### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPS10) # 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}}" "RPS10" "ribosomal protein S10" "6" "p21.31" "unknown" "NG_023200.1" "UD_132118957227" "" "https://www.LOVD.nl/RPS10" "" "1" "10383" "6204" "603632" "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/RPS10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-20 15:27:31" "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}}" "00025609" "RPS10" "transcript variant 1" "003" "NM_001203245.2" "" "NP_001190174.1" "" "" "" "-246" "550" "498" "34393818" "34385231" "00006" "2021-04-20 15:29:46" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03304" "DBA9" "anemia, Diamond-Blackfan, type 9 (DBA9)" "AD" "613308" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-20 15:28:10" "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}}" "RPS10" "03304" "RPS10" "05484" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00210742" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA016" "00210772" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA046" "00210786" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA060" "00210857" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA131" "00210875" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA149" "00210902" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA176" "00211007" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA281" "00211048" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA322" "00211119" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel26" "00211120" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel27" "00211121" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel28" "00211122" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel29" "00211123" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel30" "00211124" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel31" "00211125" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel32" "00219199" "" "" "" "1" "" "00000" "{PMID:Doherty 2010:20116044}" "" "M" "" "" "" "0" "" "" "?" "Pat1" "00219200" "" "" "" "1" "" "00000" "{PMID:Doherty 2010:20116044}" "" "F" "" "" "" "0" "" "" "?" "Pat2" "00219201" "" "" "" "1" "" "00000" "{PMID:Doherty 2010:20116044}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "?" "Pat3" "00219202" "" "" "" "1" "" "00000" "{PMID:Doherty 2010:20116044}" "" "F" "" "" "" "0" "" "" "?" "Pat4" "00219203" "" "" "" "1" "" "00000" "{PMID:Doherty 2010:20116044}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "?" "Pat5" "00294091" "" "" "" "257" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294092" "" "" "" "54" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305094" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00210742" "05484" "00210772" "05484" "00210786" "05484" "00210857" "05484" "00210875" "05484" "00210902" "05484" "00211007" "05484" "00211048" "05484" "00211119" "05484" "00211120" "05484" "00211121" "05484" "00211122" "05484" "00211123" "05484" "00211124" "05484" "00211125" "05484" "00219199" "05484" "00219200" "05484" "00219201" "05484" "00219202" "05484" "00219203" "05484" "00294091" "00198" "00294092" "00198" "00305094" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03304, 05484 ## Count = 13 "{{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}}" "0000159304" "05484" "00210742" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159334" "05484" "00210772" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159348" "05484" "00210786" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159419" "05484" "00210857" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159437" "05484" "00210875" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159464" "05484" "00210902" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159569" "05484" "00211007" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159610" "05484" "00211048" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000167738" "05484" "00219203" "00008" "Isolated (sporadic)" "" "Webbed neck unresponsive to steroid therapy, red blood cell transfusion" "" "00y00m01d" "" "" "" "" "" "" "DBA9" "Diamond-Blackfan anemia" "" "0000167739" "05484" "00219199" "00008" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167740" "05484" "00219200" "00008" "Isolated (sporadic)" "00y02m" "no malformation, responsive to steroid therapy" "" "00y02m" "" "" "" "" "" "" "" "" "" "0000167741" "05484" "00219201" "00008" "Isolated (sporadic)" "" "no malformation, responsive to steroid therapy, red blood cell transfusion" "" "00y07m" "" "" "" "" "" "" "DBA9" "Diamond-Blackfan anemia" "" "0000167742" "05484" "00219202" "00008" "Isolated (sporadic)" "" "no malformation, responsive to steroid therapy" "" "12y" "" "" "" "" "" "" "DBA9" "Diamond-Blackfan anemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211820" "00210742" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211850" "00210772" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211864" "00210786" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211935" "00210857" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211953" "00210875" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211980" "00210902" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212085" "00211007" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212126" "00211048" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212197" "00211119" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212198" "00211120" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212199" "00211121" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212200" "00211122" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212201" "00211123" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212202" "00211124" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212203" "00211125" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000220271" "00219199" "1" "00000" "00115" "2010-07-22 11:45:08" "00115" "2010-08-11 09:15:38" "SEQ" "DNA" "" "" "0000220272" "00219200" "1" "00000" "00115" "2010-07-22 11:45:08" "00115" "2010-08-11 09:15:38" "SEQ" "DNA" "" "" "0000220273" "00219201" "1" "00000" "00115" "2010-07-22 11:45:08" "00115" "2010-08-11 09:15:38" "SEQ" "DNA" "" "" "0000220274" "00219202" "1" "00000" "00115" "2010-07-22 11:45:08" "00115" "2010-08-11 09:15:38" "SEQ" "DNA" "" "" "0000220275" "00219203" "1" "00000" "00115" "2010-07-22 11:45:08" "00115" "2010-08-11 09:15:38" "SEQ" "DNA" "" "" "0000295259" "00294091" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295260" "00294092" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306223" "00305094" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000211820" "RPS10" "0000211850" "RPS10" "0000211864" "RPS10" "0000211935" "RPS10" "0000211953" "RPS10" "0000211980" "RPS10" "0000212085" "RPS10" "0000212085" "RPS19" "0000212126" "RPS10" "0000212197" "RPS10" "0000212198" "RPS10" "0000212199" "RPS10" "0000212200" "RPS10" "0000212201" "RPS10" "0000212202" "RPS10" "0000212203" "RPS10" "0000220271" "RPS10" "0000220272" "RPS10" "0000220273" "RPS10" "0000220274" "RPS10" "0000220275" "RPS10" ## 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 = 27 "{{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}}" "0000307368" "0" "30" "6" "34392537" "34392537" "subst" "0.00163222" "01943" "RPS10_000014" "g.34392537C>T" "" "" "" "RPS10(NM_001203245.2):c.231G>A (p.Q77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34424760C>T" "" "likely benign" "" "0000443450" "1" "90" "6" "34389570" "34389570" "subst" "0" "00006" "RPS10_000003" "g.34389570G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.34421793G>A" "" "pathogenic (dominant)" "" "0000443480" "1" "90" "6" "34389570" "34389570" "subst" "0" "00006" "RPS10_000003" "g.34389570G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.34421793G>A" "" "pathogenic (dominant)" "" "0000443496" "1" "90" "6" "34392512" "34392512" "del" "0" "00006" "RPS10_000011" "g.34392512del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.34392508del" "" "Germline" "" "" "0" "" "" "g.34424735del" "" "pathogenic (dominant)" "" "0000443569" "1" "90" "6" "34389570" "34389570" "subst" "0" "00006" "RPS10_000003" "g.34389570G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.34421793G>A" "" "pathogenic (dominant)" "" "0000443588" "1" "90" "6" "34392495" "34392507" "dup" "0" "00006" "RPS10_000010" "g.34392495_34392507dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.34392493_34392494insCAGGCACAATCTC" "" "Germline" "" "" "0" "" "" "g.34424718_34424730dup" "" "pathogenic (dominant)" "" "0000443615" "1" "90" "6" "34389570" "34389570" "subst" "0" "00006" "RPS10_000003" "g.34389570G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.34421793G>A" "" "pathogenic (dominant)" "" "0000443727" "1" "90" "6" "34385568" "34385568" "subst" "0" "00006" "RPS10_000004" "g.34385568T>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.34417791T>C" "" "pathogenic (dominant)" "" "0000443769" "1" "90" "6" "34392996" "34392996" "subst" "0" "00006" "RPS10_000001" "g.34392996C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.34425219C>T" "" "pathogenic (dominant)" "" "0000443840" "0" "70" "6" "34385232" "34385376" "del" "0" "00006" "RPS10_000015" "g.(?_34385232)_(34385376_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443841" "0" "70" "6" "34385281" "34385326" "del" "0" "00006" "RPS10_000016" "g.(?_34385281)_(34385326_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443842" "0" "70" "6" "34386144" "34386203" "del" "0" "00006" "RPS10_000005" "g.(?_34386144)_(34386203_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443843" "0" "70" "6" "34389456" "34389636" "del" "0" "00006" "RPS10_000006" "g.(?_34389456)_(34389636_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443844" "0" "70" "6" "34389505" "34389586" "del" "0" "00006" "RPS10_000007" "g.(?_34389505)_(34389586_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443845" "0" "70" "6" "34392444" "34392619" "del" "0" "00006" "RPS10_000009" "g.(?_34392444)_(34392619_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443846" "0" "70" "6" "34392847" "34393000" "del" "0" "00006" "RPS10_000012" "g.(?_34392847)_(34393000_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000455224" "1" "90" "6" "34392996" "34392996" "subst" "0" "00000" "RPS10_000001" "g.34392996C>T" "" "{PMID:Doherty 2010:20116044}" "" "Met1Ile" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.34425219C>T" "" "pathogenic (dominant)" "" "0000455225" "0" "90" "6" "34392512" "34392512" "dup" "0" "00000" "RPS10_000002" "g.34392512dup" "" "{PMID:Doherty 2010:20116044}" "" "c.260_261insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.34424735dup" "" "pathogenic (dominant)" "" "0000455226" "0" "90" "6" "34389570" "34389570" "subst" "0" "00000" "RPS10_000003" "g.34389570G>A" "" "{PMID:Doherty 2010:20116044}" "" "Arg113stop" "" "De novo" "" "" "0" "" "" "g.34421793G>A" "" "pathogenic (dominant)" "" "0000455227" "0" "75" "6" "34389570" "34389570" "subst" "0" "00000" "RPS10_000003" "g.34389570G>A" "" "{PMID:Doherty 2010:20116044}" "" "Arg113stop" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.34421793G>A" "" "pathogenic (dominant)" "" "0000455228" "0" "75" "6" "34389570" "34389570" "subst" "0" "00000" "RPS10_000003" "g.34389570G>A" "" "{PMID:Doherty 2010:20116044}" "" "Arg113stop" "" "De novo" "" "" "0" "" "" "g.34421793G>A" "" "likely pathogenic" "" "0000528735" "0" "30" "6" "34386194" "34386194" "subst" "0.00217264" "01943" "NUDT3_000001" "g.34386194G>A" "" "" "" "RPS10(NM_001203245.2):c.408C>T (p.A136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34418417G>A" "" "likely benign" "" "0000651948" "1" "10" "6" "34386219" "34386219" "subst" "0.0292314" "03575" "RPS10_000017" "g.34386219G>A" "257/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "257 heterozygous; {DB:CLININrs41269040}" "Germline" "" "rs41269040" "0" "" "" "g.34418442G>A" "" "benign" "" "0000651949" "1" "30" "6" "34393837" "34393837" "subst" "0" "03575" "RPS10_000018" "g.34393837G>A" "54/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "54 heterozygous, no homozygous; {DB:CLININrs140822093}" "Germline" "" "rs140822093" "0" "" "" "g.34426060G>A" "" "likely benign" "" "0000669911" "3" "10" "6" "34386219" "34386219" "subst" "0.0292314" "03575" "RPS10_000017" "g.34386219G>A" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 homozygous; {DB:CLININrs41269040}" "Germline" "" "rs41269040" "0" "" "" "g.34418442G>A" "" "benign" "" "0000977209" "0" "30" "6" "34392993" "34392993" "subst" "0.000826815" "01804" "NUDT3_000002" "g.34392993C>T" "" "" "" "RPS10(NM_001014.5):c.6G>A (p.(Leu2=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014214" "0" "30" "6" "34385676" "34385676" "subst" "0" "02327" "NUDT3_000003" "g.34385676T>C" "" "" "" "" "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 RPS10 ## Count = 27 "{{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}}" "0000307368" "00025609" "30" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Gln77=)" "" "0000443450" "00025609" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "" "0000443480" "00025609" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "" "0000443496" "00025609" "90" "256" "0" "256" "0" "c.256del" "r.(?)" "p.(Pro87Argfs*97)" "" "0000443569" "00025609" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "" "0000443588" "00025609" "90" "262" "0" "274" "0" "c.262_274dup" "r.(?)" "p.(Ala92Glyfs*10)" "" "0000443615" "00025609" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "" "0000443727" "00025609" "90" "457" "-244" "457" "-244" "c.457-244A>G" "r.(=)" "p.(=)" "" "0000443769" "00025609" "90" "3" "0" "3" "0" "c.3G>A" "r.?" "p.?" "" "0000443840" "00025609" "70" "457" "-52" "549" "0" "c.(?_457-52)_(*51_?)del" "r.?" "p.?" "" "0000443841" "00025609" "70" "457" "-2" "500" "0" "c.(?_457-2)_(*2_?)del" "r.?" "p.?" "" "0000443842" "00025609" "70" "401" "-2" "456" "2" "c.(?_401-2)_(456+2_?)del" "r.?" "p.?" "" "0000443843" "00025609" "70" "323" "-52" "400" "51" "c.(?_323-52)_(400+51_?)del" "r.?" "p.?" "" "0000443844" "00025609" "70" "323" "-2" "400" "2" "c.(?_323-2)_(400+2_?)del" "r.?" "p.?" "" "0000443845" "00025609" "70" "151" "-2" "322" "2" "c.(?_151-2)_(322+2_?)del" "r.?" "p.?" "" "0000443846" "00025609" "70" "1" "-2" "150" "2" "c.(?_1-2)_(150+2_?)del" "r.?" "p.0?" "" "0000455224" "00025609" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000455225" "00025609" "90" "260" "0" "260" "0" "c.260dup" "r.(?)" "p.Glu88Glyfs*10" "" "0000455226" "00025609" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "" "0000455227" "00025609" "75" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "" "0000455228" "00025609" "75" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "" "0000528735" "00025609" "30" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Ala136=)" "" "0000651948" "00025609" "10" "401" "-18" "401" "-18" "c.401-18C>T" "r.(=)" "p.(=)" "" "0000651949" "00025609" "30" "-29" "0" "-29" "0" "c.-29C>T" "r.(?)" "p.(=)" "" "0000669911" "00025609" "10" "401" "-18" "401" "-18" "c.401-18C>T" "r.(=)" "p.(=)" "" "0000977209" "00025609" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(=)" "" "0001014214" "00025609" "30" "457" "-352" "457" "-352" "c.457-352A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000211820" "0000443450" "0000211850" "0000443480" "0000211864" "0000443496" "0000211935" "0000443569" "0000211953" "0000443588" "0000211980" "0000443615" "0000212085" "0000443727" "0000212126" "0000443769" "0000212197" "0000443840" "0000212198" "0000443841" "0000212199" "0000443842" "0000212200" "0000443843" "0000212201" "0000443844" "0000212202" "0000443845" "0000212203" "0000443846" "0000220271" "0000455224" "0000220272" "0000455225" "0000220273" "0000455226" "0000220274" "0000455227" "0000220275" "0000455228" "0000295259" "0000651948" "0000295260" "0000651949" "0000306223" "0000669911"