### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPL11) # 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}}" "RPL11" "ribosomal protein L11" "1" "p36.1-p35" "unknown" "LRG_1140" "UD_132084485416" "" "https://www.LOVD.nl/RPL11" "" "1" "10301" "6135" "604175" "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/RPL11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-20 20:02:44" "00000" "2025-11-01 13:22:20" ## 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}}" "00018088" "RPL11" "transcript variant 1" "001" "NM_000975.3" "" "NP_000966.2" "" "" "" "-45" "589" "537" "24018269" "24022915" "" "0000-00-00 00:00:00" "" "" ## 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}}" "03156" "DBA7" "anemia, Diamond-Blackfan, type 7 (DBA7)" "AD" "612562" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-20 20:03:00" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "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}}" "RPL11" "03156" "RPL11" "05484" ## Individuals ## Do not remove or alter this header ## ## Count = 75 "{{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}}" "00104034" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-755A" "00210735" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA009" "00210736" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA010" "00210745" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA019" "00210757" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA031" "00210762" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA036" "00210764" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA038" "00210767" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA041" "00210779" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA053" "00210790" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA064" "00210796" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA070" "00210811" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA085" "00210819" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA093" "00210847" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA121" "00210853" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA127" "00210860" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA134" "00210866" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA140" "00210867" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA141" "00210904" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA178" "00210905" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA179" "00210978" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA252" "00210979" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA253" "00210981" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA255" "00211000" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA274" "00211017" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA291" "00211032" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA306" "00211038" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA312" "00211055" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA329" "00211058" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA332" "00211065" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA339" "00211087" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA361" "00211088" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA362" "00211089" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA363" "00211090" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA364" "00211094" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel1" "00211095" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel2" "00211096" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel3" "00211097" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel4" "00362354" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "F" "" "" "" "0" "" "" "" "Pl11_1" "00362355" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "M" "" "" "" "0" "" "" "" "Pl11_2" "00362356" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "M" "" "" "" "0" "" "" "" "Pl11_3" "00362383" "" "" "" "3" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat19" "00362384" "" "" "00362383" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, carrier mother/grandmother" "F" "" "" "" "0" "" "" "" "Pat20" "00362385" "" "" "00362383" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "mother" "F" "" "" "" "0" "" "" "" "Pat20mother" "00362386" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "grandmother" "F" "" "" "" "0" "" "" "" "Pat20grandmother" "00362387" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "F" "" "" "" "0" "" "" "" "Pat21" "00362388" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "M" "" "" "" "0" "" "" "" "Pat22" "00362389" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat23" "00362390" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat24" "00362391" "" "" "" "2" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, carrier son" "M" "" "" "" "0" "" "" "" "Pat25" "00362392" "" "" "00362391" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "son" "M" "" "" "" "0" "" "" "" "Pat25son" "00362393" "" "" "" "2" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, carrier mother" "F" "" "" "" "0" "" "" "" "Pat26" "00362394" "" "" "00362393" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "mother" "F" "" "" "" "0" "" "" "" "Pat26mother" "00362395" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat27" "00362396" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "M" "" "" "" "0" "" "" "" "Pat28" "00362397" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "M" "" "" "" "0" "" "" "" "Pat29" "00362398" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "F" "" "" "" "0" "" "" "" "Pat30" "00362399" "" "" "" "2" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, carrier mother" "M" "" "" "" "0" "" "" "" "Pat31" "00362400" "" "" "00362399" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "mother" "F" "" "" "" "0" "" "" "" "Pat31mother" "00362562" "" "" "" "1" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "F" "" "Czech Republic" "" "0" "" "" "" "CZUH09" "00362563" "" "" "" "1" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "F" "" "Czech Republic" "" "0" "" "" "" "CZUH37" "00362576" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "F" "" "Italy" "" "0" "" "" "" "RPL11-Pat1" "00362577" "" "" "" "2" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, affected mother/daughter" "F" "" "Italy" "" "0" "" "" "" "RPL11-Pat2" "00362578" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "M" "" "Italy" "" "0" "" "" "" "RPL11-Pat3" "00362579" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "M" "" "Italy" "" "0" "" "" "" "RPL11-Pat4" "00362580" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "F" "" "Italy" "" "0" "" "" "" "RPL11-Pat5" "00362581" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "F" "" "Italy" "" "0" "" "" "" "RPL11-Pat6" "00362582" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "Italy" "" "0" "" "" "" "RPL11-Pat7" "00362583" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "F" "" "Italy" "" "0" "" "" "" "RPL11-Pat8" "00362584" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Italy" "" "0" "" "" "" "RPL11-Pat9" "00362585" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "RPL11-Pat10" "00362586" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "M" "" "Italy" "" "0" "" "" "" "RPL11-Pat11" "00362587" "" "" "" "2" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, affected father/daughter" "F" "" "Italy" "" "0" "" "" "" "RPL11-Pat12" "00362811" "" "" "" "1" "" "00006" "{PMID:Konno 2010:20378560}" "" "F" "" "Japan" "" "0" "" "" "" "Pat9" "00362812" "" "" "" "1" "" "00006" "{PMID:Konno 2010:20378560}" "" "M" "" "Japan" "" "0" "" "" "" "Pat23" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 75 "{{individualid}}" "{{diseaseid}}" "00104034" "03381" "00210735" "05484" "00210736" "05484" "00210745" "05484" "00210757" "05484" "00210762" "05484" "00210764" "05484" "00210767" "05484" "00210779" "05484" "00210790" "05484" "00210796" "05484" "00210811" "05484" "00210819" "05484" "00210847" "05484" "00210853" "05484" "00210860" "05484" "00210866" "05484" "00210867" "05484" "00210904" "05484" "00210905" "05484" "00210978" "05484" "00210979" "05484" "00210981" "05484" "00211000" "05484" "00211017" "05484" "00211032" "05484" "00211038" "05484" "00211055" "05484" "00211058" "05484" "00211065" "05484" "00211087" "05484" "00211088" "05484" "00211089" "05484" "00211090" "05484" "00211094" "05484" "00211095" "05484" "00211096" "05484" "00211097" "05484" "00362354" "05484" "00362355" "05484" "00362356" "05484" "00362383" "05484" "00362384" "05484" "00362385" "05484" "00362386" "05484" "00362387" "05484" "00362388" "05484" "00362389" "05484" "00362390" "05484" "00362391" "05484" "00362392" "05484" "00362393" "05484" "00362394" "05484" "00362395" "05484" "00362396" "05484" "00362397" "05484" "00362398" "05484" "00362399" "05484" "00362400" "05484" "00362562" "05484" "00362563" "05484" "00362576" "05484" "00362577" "05484" "00362578" "05484" "00362579" "05484" "00362580" "05484" "00362581" "05484" "00362582" "05484" "00362583" "05484" "00362584" "05484" "00362585" "05484" "00362586" "05484" "00362587" "05484" "00362811" "05484" "00362812" "05484" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03156, 03381, 05484 ## Count = 71 "{{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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081968" "03381" "00104034" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000159297" "05484" "00210735" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159298" "05484" "00210736" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159307" "05484" "00210745" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159319" "05484" "00210757" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159324" "05484" "00210762" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159326" "05484" "00210764" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159329" "05484" "00210767" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159341" "05484" "00210779" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159352" "05484" "00210790" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159358" "05484" "00210796" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159373" "05484" "00210811" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159381" "05484" "00210819" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159409" "05484" "00210847" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159415" "05484" "00210853" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159422" "05484" "00210860" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159428" "05484" "00210866" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159429" "05484" "00210867" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159466" "05484" "00210904" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159467" "05484" "00210905" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159540" "05484" "00210978" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159541" "05484" "00210979" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159543" "05484" "00210981" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159562" "05484" "00211000" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159579" "05484" "00211017" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159594" "05484" "00211032" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159600" "05484" "00211038" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159617" "05484" "00211055" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159620" "05484" "00211058" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159627" "05484" "00211065" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159649" "05484" "00211087" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159650" "05484" "00211088" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159651" "05484" "00211089" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159652" "05484" "00211090" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000257767" "05484" "00362354" "00006" "Isolated (sporadic)" "" "ventricular septal defect, atrial septal defect, abnormal thumbs; no growth retardation;" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257768" "05484" "00362355" "00006" "Isolated (sporadic)" "" "no malformation; no growth retardation; responsive to steroid treatment" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257769" "05484" "00362356" "00006" "Isolated (sporadic)" "" "no malformation; growth retardation; responsive to steroid treatment" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257796" "05484" "00362383" "00006" "Isolated (sporadic)" "" "triphalangeal thumbs; responsive to steroid therapy" "" "2m" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257797" "05484" "00362384" "00006" "Familial, autosomal dominant" "" "ventricular septal defect, narrow pulmonary artery; responsive to steroid therapy; red blood cell transfusion" "" "9m" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257798" "05484" "00362385" "00006" "Familial, autosomal dominant" "" "triphalangeal thumb; red blood cell transfusion" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257799" "05484" "00362386" "00006" "Unknown" "" "triphalangeal thumb" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257800" "05484" "00362387" "00006" "Isolated (sporadic)" "" "no malformations; responsive to steroid therapy" "" "1m" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257801" "05484" "00362388" "00006" "Isolated (sporadic)" "" "abnormal thumbs; responsive to steroid therapy; red blood cell transfusion" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257802" "05484" "00362389" "00006" "Isolated (sporadic)" "" "short neck; unresponsive to steroid therapy; stem cell transplant" "" "1m" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257803" "05484" "00362390" "00006" "Isolated (sporadic)" "" "horseshoe kidney; responsive to steroid therapy" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257804" "05484" "00362391" "00006" "Unknown" "" "no malformations; responsive to steroid therapy" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257805" "05484" "00362392" "00006" "Familial, autosomal dominant" "" "small extra thumbs" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257806" "05484" "00362393" "00006" "Familial, autosomal dominant" "" "no malformations; responsive to high doses; red blood cell transfusion" "" "2m" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257807" "05484" "00362394" "00006" "Unknown" "" "no malformations" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257808" "05484" "00362395" "00006" "Isolated (sporadic)" "" "no malformations; unresponsive to steroid therapy; red blood cell transfusion" "" "3m" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257809" "05484" "00362396" "00006" "Isolated (sporadic)" "" "flat thenar muscle, small jaw; responsive to steroid therapy" "" "3m" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257810" "05484" "00362397" "00006" "Isolated (sporadic)" "" "Tetralogy of Fallot, bilateral grade 3 vesicoureteral reflex; responsive to steroid therapy" "" "2y" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257811" "05484" "00362398" "00006" "Isolated (sporadic)" "" "hypoplastic thumb, flat thenar muscle; responsive/ stopped due to growth retardation; red blood cell transfusion" "" "2m15d" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257812" "05484" "00362399" "00006" "Familial, autosomal dominant" "" "small extra thumbs, Tetralogy of Fallot; responsive to steroid therapy" "" "12m" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257813" "05484" "00362400" "00006" "Unknown" "" "left thumb: additional short phalanx; red blood cell transfusion (2x/y)" "" "21y" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257975" "05484" "00362562" "00006" "Isolated (sporadic)" "31y" "small for gestational age; flat thenar; atypical thumb" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257976" "05484" "00362563" "00006" "Isolated (sporadic)" "20y" "small for gestational age; flat thenar; bifid thumb" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257989" "05484" "00362576" "00006" "Unknown" "" "cleft palate, flat thenar eminence" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257990" "05484" "00362577" "00006" "Familial, autosomal dominant" "" "short stature" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257991" "05484" "00362578" "00006" "Isolated (sporadic)" "" "hypospadias, renal ectopy, café au lait spots" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257992" "05484" "00362579" "00006" "Unknown" "" "no malformations" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257993" "05484" "00362580" "00006" "Unknown" "" "hypoplastic thumb, ventricular septal defect" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257994" "05484" "00362581" "00006" "Isolated (sporadic)" "" "bilateral triphalangeal thumbs, persistent foramen ovale" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257995" "05484" "00362582" "00006" "Isolated (sporadic)" "" "Cathie\'s facies, flat thenar eminence, short stature" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257996" "05484" "00362583" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257997" "05484" "00362584" "00006" "Isolated (sporadic)" "" "flat thenar eminence, tetralogy of Fallot, short stature" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257998" "05484" "00362585" "00006" "Isolated (sporadic)" "" "septal atrial defect, flat thenar eminence, short staure" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000257999" "05484" "00362586" "00006" "Isolated (sporadic)" "" "bilateral triphalangeal thumbs, cleft palate, micrognathia, short staure" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000258000" "05484" "00362587" "00006" "Familial, autosomal dominant" "" "short stature" "" "" "" "" "" "" "" "DBA7" "Diamond-Blackfan anemia" "" "0000258181" "05484" "00362811" "00006" "Isolated (sporadic)" "" "see paper; ..." "1y10m" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000258182" "05484" "00362812" "00006" "Isolated (sporadic)" "" "see paper; ..." "1y6m" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 75 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104505" "00104034" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000211813" "00210735" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211814" "00210736" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211823" "00210745" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211835" "00210757" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211840" "00210762" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211842" "00210764" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211845" "00210767" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211857" "00210779" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211868" "00210790" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211874" "00210796" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211889" "00210811" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211897" "00210819" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211925" "00210847" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211931" "00210853" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211938" "00210860" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211944" "00210866" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211945" "00210867" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211982" "00210904" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211983" "00210905" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212056" "00210978" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000212057" "00210979" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212059" "00210981" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212078" "00211000" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212095" "00211017" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212110" "00211032" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212116" "00211038" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212133" "00211055" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212136" "00211058" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212143" "00211065" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212165" "00211087" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ" "DNA" "" "" "0000212166" "00211088" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ" "DNA" "" "" "0000212167" "00211089" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ" "DNA" "" "" "0000212168" "00211090" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ" "DNA" "" "" "0000212172" "00211094" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212173" "00211095" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212174" "00211096" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212175" "00211097" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000363582" "00362354" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363583" "00362355" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363584" "00362356" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363611" "00362383" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363612" "00362384" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363613" "00362385" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363614" "00362386" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363615" "00362387" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363616" "00362388" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363617" "00362389" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363618" "00362390" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363619" "00362391" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363620" "00362392" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363621" "00362393" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363622" "00362394" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363623" "00362395" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363624" "00362396" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363625" "00362397" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363626" "00362398" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363627" "00362399" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363628" "00362400" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363790" "00362562" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363791" "00362563" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363804" "00362576" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363805" "00362577" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363806" "00362578" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363807" "00362579" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363808" "00362580" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363809" "00362581" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363810" "00362582" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363811" "00362583" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363812" "00362584" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363813" "00362585" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363814" "00362586" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363815" "00362587" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000364039" "00362811" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364040" "00362812" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 75 "{{screeningid}}" "{{geneid}}" "0000211813" "RPL11" "0000211814" "RPL11" "0000211823" "RPL11" "0000211835" "RPL11" "0000211840" "RPL11" "0000211842" "RPL11" "0000211845" "RPL11" "0000211857" "RPL11" "0000211868" "RPL11" "0000211874" "RPL11" "0000211889" "RPL11" "0000211897" "RPL11" "0000211925" "RPL11" "0000211931" "RPL11" "0000211938" "RPL11" "0000211938" "RPL5" "0000211944" "RPL11" "0000211945" "RPL11" "0000211982" "RPL11" "0000211983" "RPL11" "0000211983" "RPL18" "0000212056" "RPL11" "0000212057" "RPL11" "0000212059" "RPL11" "0000212078" "RPL11" "0000212095" "RPL11" "0000212110" "RPL11" "0000212116" "RPL11" "0000212133" "RPL11" "0000212136" "RPL11" "0000212143" "RPL11" "0000212165" "RPL11" "0000212166" "RPL11" "0000212167" "RPL11" "0000212168" "RPL11" "0000212173" "RPL11" "0000212174" "RPL11" "0000212175" "RPL11" "0000363582" "RPL11" "0000363583" "RPL11" "0000363584" "RPL11" "0000363611" "RPL11" "0000363612" "RPL11" "0000363613" "RPL11" "0000363614" "RPL11" "0000363615" "RPL11" "0000363616" "RPL11" "0000363617" "RPL11" "0000363618" "RPL11" "0000363619" "RPL11" "0000363620" "RPL11" "0000363621" "RPL11" "0000363622" "RPL11" "0000363623" "RPL11" "0000363624" "RPL11" "0000363625" "RPL11" "0000363626" "RPL11" "0000363627" "RPL11" "0000363628" "RPL11" "0000363790" "RPL11" "0000363791" "RPL11" "0000363804" "RPL11" "0000363805" "RPL11" "0000363806" "RPL11" "0000363807" "RPL11" "0000363808" "RPL11" "0000363809" "RPL11" "0000363810" "RPL11" "0000363811" "RPL11" "0000363812" "RPL11" "0000363813" "RPL11" "0000363814" "RPL11" "0000363815" "RPL11" "0000364039" "RPL11" "0000364040" "RPL11" ## 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 = 85 "{{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}}" "0000169420" "0" "70" "1" "24022328" "24022328" "subst" "0" "00587" "RPL11_000001" "g.24022328G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000975.3(RPL11):c.437G>A p.(Arg146His)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.23695838G>A" "" "likely pathogenic" "" "0000443443" "1" "90" "1" "24018321" "24018321" "subst" "0" "00006" "RPL11_000005" "g.24018321T>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23691831T>C" "" "pathogenic (dominant)" "" "0000443444" "1" "90" "1" "24019186" "24019186" "subst" "0" "00006" "RPL11_000009" "g.24019186A>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23692696A>T" "" "pathogenic (dominant)" "" "0000443453" "1" "90" "1" "24022358" "24022359" "del" "0" "00006" "RPL11_000028" "g.24022358_24022359del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24022357_24022358del" "" "Germline" "" "" "0" "" "" "g.23695868_23695869del" "" "pathogenic (dominant)" "" "0000443465" "1" "90" "1" "24018269" "24022915" "del" "0" "00006" "RPL11_000003" "g.(?_24018269)_(24022915_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443470" "1" "90" "1" "24021175" "24021175" "dup" "0" "00006" "RPL11_000019" "g.24021175dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24021169_24021170insA" "" "Germline" "" "" "0" "" "" "g.23694685dup" "" "pathogenic (dominant)" "" "0000443472" "1" "90" "1" "24021282" "24021282" "subst" "0" "00006" "RPL11_000024" "g.24021282G>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23694792G>T" "" "pathogenic (dominant)" "" "0000443475" "1" "90" "1" "24022825" "24022829" "del" "0" "00006" "RPL11_000002" "g.24022825_24022829del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24022819_24022823del" "" "Germline" "" "" "0" "" "" "g.23696335_23696339del" "" "pathogenic (dominant)" "" "0000443487" "1" "90" "1" "24019216" "24019216" "subst" "0" "00006" "RPL11_000012" "g.24019216C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23692726C>T" "" "pathogenic (dominant)" "" "0000443500" "1" "90" "1" "24022373" "24022375" "del" "0" "00006" "RPL11_000031" "g.24022373_24022375del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24022369_24022371del" "" "Germline" "" "" "0" "" "" "g.23695883_23695885del" "" "pathogenic (dominant)" "" "0000443507" "1" "90" "1" "24019154" "24019155" "del" "0" "00006" "RPL11_000008" "g.24019154_24019155del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24019153_24019154del" "" "Germline" "" "" "0" "" "" "g.23692664_23692665del" "" "pathogenic (dominant)" "" "0000443522" "1" "90" "1" "24020299" "24020299" "dup" "0" "00006" "RPL11_000015" "g.24020299dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24020298_24020299insA" "" "Germline" "" "" "0" "" "" "g.23693809dup" "" "pathogenic (dominant)" "" "0000443530" "1" "90" "1" "24018321" "24018321" "subst" "0" "00006" "RPL11_000005" "g.24018321T>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23691831T>C" "" "pathogenic (dominant)" "" "0000443559" "1" "90" "1" "24022356" "24022366" "dup" "0" "00006" "RPL11_000029" "g.24022356_24022366dup" "" "{PMID:Ulirsch 2018:30503522}" "" "24022353_24022354insCACAGAATCAG" "" "Germline" "" "" "0" "" "" "g.23695866_23695876dup" "" "pathogenic (dominant)" "" "0000443565" "1" "90" "1" "24020295" "24020295" "subst" "0" "00006" "RPL11_000013" "g.24020295A>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23693805A>C" "" "pathogenic (dominant)" "" "0000443573" "1" "90" "1" "24021280" "24021280" "subst" "1.21847E-5" "00006" "RPL11_000023" "g.24021280T>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23694790T>C" "" "pathogenic (dominant)" "" "0000443579" "1" "90" "1" "24021282" "24021282" "subst" "0" "00006" "RPL11_000025" "g.24021282G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23694792G>A" "" "pathogenic (dominant)" "" "0000443580" "1" "90" "1" "24021282" "24021282" "subst" "0" "00006" "RPL11_000025" "g.24021282G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23694792G>A" "" "pathogenic (dominant)" "" "0000443617" "1" "90" "1" "24018322" "24018322" "subst" "0" "00006" "RPL11_000006" "g.24018322G>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23691832G>C" "" "pathogenic (dominant)" "" "0000443618" "1" "90" "1" "24020357" "24020357" "subst" "0" "00006" "RPL11_000017" "g.24020357C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23693867C>T" "" "pathogenic (dominant)" "" "0000443698" "1" "90" "1" "24021284" "24021284" "subst" "0" "00006" "RPL11_000026" "g.24021284A>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23694794A>G" "" "pathogenic (dominant)" "" "0000443699" "1" "90" "1" "24022368" "24022368" "del" "0" "00006" "RPL11_000030" "g.24022368del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24022366del" "" "Germline" "" "" "0" "" "" "g.23695878del" "" "pathogenic (dominant)" "" "0000443701" "1" "90" "1" "24020303" "24020303" "dup" "0" "00006" "RPL11_000016" "g.24020303dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24020302_24020303insA" "" "Germline" "" "" "0" "" "" "g.23693813dup" "" "pathogenic (dominant)" "" "0000443720" "1" "90" "1" "24022831" "24022831" "subst" "0" "00006" "RPL11_000032" "g.24022831C>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23696341C>A" "" "pathogenic (dominant)" "" "0000443738" "1" "90" "1" "24022825" "24022829" "del" "0" "00006" "RPL11_000002" "g.24022825_24022829del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24022819_24022823del" "" "Germline" "" "" "0" "" "" "g.23696335_23696339del" "" "pathogenic (dominant)" "" "0000443753" "1" "90" "1" "24021199" "24021200" "del" "0" "00006" "RPL11_000022" "g.24021199_24021200del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24021198_24021199del" "" "Germline" "" "" "0" "" "" "g.23694709_23694710del" "" "pathogenic (dominant)" "" "0000443759" "1" "90" "1" "24019186" "24019189" "del" "0" "00006" "RPL11_000010" "g.24019186_24019189del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24019182_24019185del" "" "Germline" "" "" "0" "" "" "g.23692696_23692699del" "" "pathogenic (dominant)" "" "0000443776" "1" "90" "1" "24020362" "24020362" "subst" "0" "00006" "RPL11_000018" "g.24020362C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23693872C>T" "" "pathogenic (dominant)" "" "0000443779" "1" "90" "1" "24020296" "24020296" "subst" "0" "00006" "RPL11_000014" "g.24020296G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23693806G>A" "" "pathogenic (dominant)" "" "0000443786" "1" "90" "1" "24020296" "24020296" "subst" "0" "00006" "RPL11_000014" "g.24020296G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23693806G>A" "" "pathogenic (dominant)" "" "0000443808" "1" "90" "1" "24021178" "24021178" "del" "0" "00006" "RPL11_000021" "g.24021178del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24021177del" "" "Germline" "" "" "0" "" "" "g.23694688del" "" "pathogenic (dominant)" "" "0000443809" "1" "90" "1" "24021175" "24021175" "del" "0" "00006" "RPL11_000020" "g.24021175del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23694685del" "" "pathogenic (dominant)" "" "0000443810" "1" "90" "1" "24019192" "24019192" "dup" "0" "00006" "RPL11_000011" "g.24019192dup" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.23692702dup" "" "pathogenic (dominant)" "" "0000443811" "1" "90" "1" "24021199" "24021200" "del" "0" "00006" "RPL11_000022" "g.24021199_24021200del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.24021198_24021199del" "" "Germline" "" "" "0" "" "" "g.23694709_23694710del" "" "pathogenic (dominant)" "" "0000443815" "0" "70" "1" "24018312" "24018321" "del" "0" "00006" "RPL11_000004" "g.(?_24018312)_(24018321_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443816" "0" "70" "1" "24019097" "24019251" "del" "0" "00006" "RPL11_000007" "g.(?_24019097)_(24019251_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443817" "0" "70" "1" "24019097" "24019251" "del" "0" "00006" "RPL11_000007" "g.(?_24019097)_(24019251_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443818" "0" "70" "1" "24022286" "24022400" "del" "0" "00006" "RPL11_000027" "g.(?_24022286)_(24022400_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000506569" "0" "30" "1" "24019122" "24019122" "subst" "0.000710625" "01943" "RPL11_000033" "g.24019122C>T" "" "" "" "RPL11(NM_000975.5):c.30C>T (p.N10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23692632C>T" "" "likely benign" "" "0000605571" "0" "30" "1" "24021224" "24021224" "subst" "0.0245502" "01804" "RPL11_000034" "g.24021224C>T" "" "" "" "RPL11(NM_000975.3):c.339C>T (p.(Ile113=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23694734C>T" "" "likely benign" "" "0000717353" "0" "30" "1" "24019079" "24019079" "subst" "0.00211207" "02326" "RPL11_000035" "g.24019079G>T" "" "" "" "RPL11(NM_000975.5):c.7-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000764281" "0" "90" "1" "24019192" "24019192" "dup" "0" "00006" "RPL11_000011" "g.24019192dup" "" "{PMID:Boria 2010:20960466}" "" "100_101dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23692702dup" "" "pathogenic (dominant)" "" "0000764282" "0" "90" "1" "24022356" "24022366" "dup" "0" "00006" "RPL11_000029" "g.24022356_24022366dup" "" "{PMID:Boria 2010:20960466}" "" "475_476ins10" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23695866_23695876dup" "" "pathogenic (dominant)" "" "0000764283" "0" "90" "1" "24020295" "24020295" "subst" "0" "00006" "RPL11_000013" "g.24020295A>C" "" "{PMID:Boria 2010:20960466}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23693805A>C" "" "pathogenic (dominant)" "" "0000764310" "0" "90" "1" "24020362" "24020362" "subst" "0" "00006" "RPL11_000018" "g.24020362C>T" "" "{PMID:Gazda 2008:19061985}" "" "" "" "De novo" "" "" "0" "" "" "g.23693872C>T" "" "pathogenic (dominant)" "" "0000764311" "21" "90" "1" "24019152" "24019153" "del" "0" "00006" "RPL11_000037" "g.24019152_24019153del" "" "{PMID:Gazda 2008:19061985}" "" "60_61 delCT" "" "Germline" "" "" "0" "" "" "g.23692662_23692663del" "" "pathogenic (dominant)" "" "0000764312" "21" "90" "1" "24019152" "24019153" "del" "0" "00006" "RPL11_000037" "g.24019152_24019153del" "" "{PMID:Gazda 2008:19061985}" "" "60_61 delCT" "" "Germline" "" "" "0" "" "" "g.23692662_23692663del" "" "pathogenic (dominant)" "" "0000764313" "0" "90" "1" "24019152" "24019153" "del" "0" "00006" "RPL11_000037" "g.24019152_24019153del" "" "{PMID:Gazda 2008:19061985}" "" "60_61 delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23692662_23692663del" "" "pathogenic (dominant)" "" "0000764314" "0" "90" "1" "24019186" "24019189" "del" "0" "00006" "RPL11_000010" "g.24019186_24019189del" "" "{PMID:Gazda 2008:19061985}" "" "94_97 delAGAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23692696_23692699del" "" "pathogenic (dominant)" "" "0000764315" "0" "90" "1" "24020299" "24020299" "dup" "0" "00006" "RPL11_000015" "g.24020299dup" "" "{PMID:Gazda 2008:19061985}" "" "160_161 insA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23693809dup" "" "pathogenic (dominant)" "" "0000764316" "0" "90" "1" "24021175" "24021175" "del" "0" "00006" "RPL11_000020" "g.24021175del" "" "{PMID:Gazda 2008:19061985}" "" "290 delA" "" "De novo" "" "" "0" "" "" "g.23694685del" "" "pathogenic (dominant)" "" "0000764317" "0" "90" "1" "24021178" "24021178" "dup" "0" "00006" "RPL11_000044" "g.24021178dup" "" "{PMID:Gazda 2008:19061985}" "" "291_292 insA" "" "De novo" "" "" "0" "" "" "g.23694688dup" "" "pathogenic (dominant)" "" "0000764318" "0" "90" "1" "24021199" "24021200" "del" "0" "00006" "RPL11_000022" "g.24021199_24021200del" "" "{PMID:Gazda 2008:19061985}" "" "314_315 delTT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23694709_23694710del" "" "pathogenic (dominant)" "" "0000764319" "11" "90" "1" "24021199" "24021200" "del" "0" "00006" "RPL11_000022" "g.24021199_24021200del" "" "{PMID:Gazda 2008:19061985}" "" "314_315 delTT" "" "Germline" "" "" "0" "" "" "g.23694709_23694710del" "" "pathogenic (dominant)" "" "0000764320" "21" "90" "1" "24022373" "24022375" "del" "0" "00006" "RPL11_000031" "g.24022373_24022375del" "" "{PMID:Gazda 2008:19061985}" "" "482_484 delAGG" "" "Germline" "" "" "0" "" "" "g.23695883_23695885del" "" "pathogenic (dominant)" "" "0000764321" "0" "90" "1" "24022373" "24022375" "del" "0" "00006" "RPL11_000031" "g.24022373_24022375del" "" "{PMID:Gazda 2008:19061985}" "" "482_484 delAGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23695883_23695885del" "" "pathogenic (dominant)" "" "0000764322" "0" "90" "1" "24018321" "24018321" "subst" "0" "00006" "RPL11_000005" "g.24018321T>C" "" "{PMID:Gazda 2008:19061985}" "" "IVS1 +2t>c" "" "De novo" "" "" "0" "" "" "g.23691831T>C" "" "pathogenic (dominant)" "" "0000764323" "0" "90" "1" "24020296" "24020296" "subst" "0" "00006" "RPL11_000014" "g.24020296G>A" "" "{PMID:Gazda 2008:19061985}" "" "IVS2 -1g>a" "" "De novo" "" "" "0" "" "" "g.23693806G>A" "" "pathogenic (dominant)" "" "0000764324" "0" "90" "1" "24020296" "24020296" "subst" "0" "00006" "RPL11_000014" "g.24020296G>A" "" "{PMID:Gazda 2008:19061985}" "" "IVS2 -1g>a" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23693806G>A" "" "pathogenic (dominant)" "" "0000764325" "0" "90" "1" "24021282" "24021282" "subst" "0" "00006" "RPL11_000025" "g.24021282G>A" "" "{PMID:Gazda 2008:19061985}" "" "IVS4 +1g>" "" "De novo" "" "" "0" "" "" "g.23694792G>A" "" "pathogenic (dominant)" "" "0000764326" "21" "90" "1" "24021282" "24021282" "subst" "0" "00006" "RPL11_000024" "g.24021282G>T" "" "{PMID:Gazda 2008:19061985}" "" "IVS4 +1g>" "" "Germline" "" "" "0" "" "" "g.23694792G>T" "" "pathogenic (dominant)" "" "0000764327" "0" "90" "1" "24021282" "24021282" "subst" "0" "00006" "RPL11_000025" "g.24021282G>A" "" "{PMID:Gazda 2008:19061985}" "" "IVS4 +1g>" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23694792G>A" "" "pathogenic (dominant)" "" "0000764489" "0" "90" "1" "24019151" "24019151" "subst" "0" "00006" "RPL11_000036" "g.24019151T>A" "" "{PMID:Cmejla 2009:19191325}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23692661T>A" "" "pathogenic (dominant)" "" "0000764490" "0" "90" "1" "24021242" "24021242" "subst" "0" "00006" "RPL11_000045" "g.24021242T>G" "" "{PMID:Cmejla 2009:19191325}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23694752T>G" "" "pathogenic (dominant)" "" "0000764503" "0" "90" "1" "24019152" "24019153" "del" "0" "00006" "RPL11_000037" "g.24019152_24019153del" "" "{PMID:Quarello 2010:19773262}" "" "60_61delCT" "" "Unknown" "" "" "0" "" "" "g.23692662_23692663del" "" "pathogenic (dominant)" "" "0000764504" "21" "90" "1" "24019152" "24019153" "del" "0" "00006" "RPL11_000037" "g.24019152_24019153del" "" "{PMID:Quarello 2010:19773262}" "" "60_61delCT" "" "Germline" "" "" "0" "" "" "g.23692662_23692663del" "" "pathogenic (dominant)" "" "0000764505" "0" "90" "1" "24019166" "24019166" "del" "0" "00006" "RPL11_000038" "g.24019166del" "" "{PMID:Quarello 2010:19773262}" "" "74delG" "" "De novo" "" "" "0" "" "" "g.23692676del" "" "pathogenic (dominant)" "" "0000764506" "0" "90" "1" "24019187" "24019188" "del" "0" "00006" "RPL11_000039" "g.24019187_24019188del" "" "{PMID:Quarello 2010:19773262}" "" "95_96delGA" "" "Unknown" "" "" "0" "" "" "g.23692697_23692698del" "" "pathogenic (dominant)" "" "0000764507" "0" "90" "1" "24019235" "24019281" "del" "0" "00006" "RPL11_000040" "g.24019235_24019281del" "" "{PMID:Quarello 2010:19773262}" "" "" "" "Unknown" "" "" "0" "" "" "g.23692745_23692791del" "" "pathogenic (dominant)" "" "0000764508" "0" "90" "1" "24019250" "24019265" "del" "0" "00006" "RPL11_000041" "g.24019250_24019265del" "" "{PMID:Quarello 2010:19773262}" "" "" "" "De novo" "" "" "0" "" "" "g.23692760_23692775del" "" "pathogenic (dominant)" "" "0000764509" "0" "90" "1" "24020337" "24020341" "del" "0" "00006" "RPL11_000042" "g.24020337_24020341del" "" "{PMID:Quarello 2010:19773262}" "" "198_202delAAAGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23693847_23693851del" "" "pathogenic (dominant)" "" "0000764510" "0" "90" "1" "24021176" "24021187" "del" "0" "00006" "RPL11_000043" "g.24021176_24021187del" "" "{PMID:Quarello 2010:19773262}" "" "" "" "De novo" "" "" "0" "" "" "g.23694686_23694697del" "" "pathogenic (dominant)" "" "0000764511" "0" "90" "1" "24021199" "24021200" "del" "0" "00006" "RPL11_000022" "g.24021199_24021200del" "" "{PMID:Quarello 2010:19773262}" "" "314_315delTT" "" "De novo" "" "" "0" "" "" "g.23694709_23694710del" "" "pathogenic (dominant)" "" "0000764512" "0" "90" "1" "24022356" "24022357" "del" "0" "00006" "RPL11_000047" "g.24022356_24022357del" "" "{PMID:Quarello 2010:19773262}" "" "465_466delCA" "" "De novo" "" "" "0" "" "" "g.23695866_23695867del" "" "pathogenic (dominant)" "" "0000764513" "0" "90" "1" "24022360" "24022360" "del" "0" "00006" "RPL11_000048" "g.24022360del" "" "{PMID:Quarello 2010:19773262}" "" "469delA" "" "De novo" "" "" "0" "" "" "g.23695870del" "" "pathogenic (dominant)" "" "0000764514" "11" "90" "1" "24022832" "24022832" "subst" "0" "00006" "RPL11_000049" "g.24022832A>G" "" "{PMID:Quarello 2010:19773262}" "" "" "" "Germline" "" "" "0" "" "" "g.23696342A>G" "" "pathogenic (dominant)" "" "0000764749" "0" "90" "1" "24019152" "24019153" "del" "0" "00006" "RPL11_000037" "g.24019152_24019153del" "" "{PMID:Konno 2010:20378560}" "" "58_59delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23692662_23692663del" "" "pathogenic (dominant)" "" "0000764750" "0" "90" "1" "24022353" "24022353" "del" "0" "00006" "RPL11_000046" "g.24022353del" "" "{PMID:Konno 2010:20378560}" "" "460delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23695863del" "" "pathogenic (dominant)" "" "0000883322" "0" "30" "1" "24018333" "24018333" "subst" "4.06114E-6" "02326" "RPL11_000050" "g.24018333A>G" "" "" "" "RPL11(NM_000975.5):c.6+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911010" "0" "30" "1" "24020279" "24020279" "subst" "0.000877357" "02326" "RPL11_000051" "g.24020279G>C" "" "" "" "RPL11(NM_000975.5):c.158-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960942" "0" "30" "1" "24019122" "24019122" "subst" "0.000710625" "02326" "RPL11_000033" "g.24019122C>T" "" "" "" "RPL11(NM_000975.5):c.30C>T (p.N10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973814" "0" "30" "1" "24019245" "24019245" "subst" "0.000625589" "01804" "RPL11_000052" "g.24019245C>T" "" "" "" "RPL11(NM_000975.5):c.153C>T (p.(Ser51=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991033" "0" "50" "1" "24022825" "24022829" "del" "0" "01804" "RPL11_000002" "g.24022825_24022829del" "" "" "" "RPL11(NM_000975.3):c.508-9_508-5delCTCTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027797" "0" "70" "1" "24021175" "24021175" "del" "0" "03779" "RPL11_000020" "g.24021175del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001050006" "0" "50" "1" "24022328" "24022328" "subst" "0" "01804" "RPL11_000001" "g.24022328G>A" "" "" "" "RPL11(NM_000975.5):c.437G>A (p.(Arg146His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 RPL11 ## Count = 85 "{{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}}" "0000169420" "00018088" "00" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "0000443443" "00018088" "90" "6" "2" "6" "2" "c.6+2T>C" "r.spl" "p.?" "" "0000443444" "00018088" "90" "94" "0" "94" "0" "c.94A>T" "r.(?)" "p.(Arg32*)" "" "0000443453" "00018088" "90" "467" "0" "468" "0" "c.467_468del" "r.(?)" "p.(Arg156Asnfs*15)" "" "0000443465" "00018088" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443470" "00018088" "90" "290" "0" "290" "0" "c.290dup" "r.(?)" "p.(Asn97Lysfs*24)" "" "0000443472" "00018088" "90" "396" "1" "396" "1" "c.396+1G>T" "r.spl" "p.?" "" "0000443475" "00018088" "90" "508" "-9" "508" "-5" "c.508-9_508-5del" "r.spl" "p.?" "" "0000443487" "00018088" "90" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Gln42*)" "" "0000443500" "00018088" "90" "482" "0" "484" "0" "c.482_484del" "r.(?)" "p.(Glu161del)" "" "0000443507" "00018088" "90" "62" "0" "63" "0" "c.62_63del" "r.(?)" "p.(Cys21Serfs*33)" "" "0000443522" "00018088" "90" "160" "0" "160" "0" "c.160dup" "r.(?)" "p.(Arg54Lysfs*13)" "" "0000443530" "00018088" "90" "6" "2" "6" "2" "c.6+2T>C" "r.spl" "p.?" "" "0000443559" "00018088" "90" "465" "0" "475" "0" "c.465_475dup" "r.(?)" "p.(Lys159Thrfs*39)" "" "0000443565" "00018088" "90" "158" "-2" "158" "-2" "c.158-2A>C" "r.spl" "p.?" "" "0000443573" "00018088" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Val132Ala)" "" "0000443579" "00018088" "90" "396" "1" "396" "1" "c.396+1G>A" "r.spl" "p.?" "" "0000443580" "00018088" "90" "396" "1" "396" "1" "c.396+1G>A" "r.spl" "p.?" "" "0000443617" "00018088" "90" "6" "3" "6" "3" "c.6+3G>C" "r.spl" "p.?" "" "0000443618" "00018088" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "" "0000443698" "00018088" "90" "396" "3" "396" "3" "c.396+3A>G" "r.spl" "p.?" "" "0000443699" "00018088" "90" "477" "0" "477" "0" "c.477del" "r.(?)" "p.(Glu160Argfs*?)" "" "0000443701" "00018088" "90" "164" "0" "164" "0" "c.164dup" "r.(?)" "p.(Tyr55*)" "" "0000443720" "00018088" "90" "508" "-3" "508" "-3" "c.508-3C>A" "r.spl" "p.?" "" "0000443738" "00018088" "90" "508" "-9" "508" "-5" "c.508-9_508-5del" "r.spl" "p.?" "" "0000443753" "00018088" "90" "314" "0" "315" "0" "c.314_315del" "r.(?)" "p.(Phe105Trpfs*15)" "" "0000443759" "00018088" "90" "94" "0" "97" "0" "c.94_97del" "r.(?)" "p.(Arg32*)" "" "0000443776" "00018088" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "" "0000443779" "00018088" "90" "158" "-1" "158" "-1" "c.158-1G>A" "r.spl" "p.?" "" "0000443786" "00018088" "90" "158" "-1" "158" "-1" "c.158-1G>A" "r.spl" "p.?" "" "0000443808" "00018088" "90" "293" "0" "293" "0" "c.293del" "r.(?)" "p.(Asn98Thrfs*?)" "" "0000443809" "00018088" "90" "290" "0" "290" "0" "c.290del" "r.(?)" "p.(Asn97Thrfs*?)" "" "0000443810" "00018088" "90" "100" "0" "100" "0" "c.100dup" "r.(?)" "p.(Thr34Asnfs*21)" "" "0000443811" "00018088" "90" "314" "0" "315" "0" "c.314_315del" "r.(?)" "p.(Phe105Trpfs*15)" "" "0000443815" "00018088" "70" "-2" "0" "6" "2" "c.(?_-2)_(6+2_?)del" "r.?" "p.0?" "" "0000443816" "00018088" "70" "7" "-2" "157" "2" "c.(?_7-2)_(157+2_?)del" "r.?" "p.?" "" "0000443817" "00018088" "70" "7" "-2" "157" "2" "c.(?_7-2)_(157+2_?)del" "r.?" "p.?" "" "0000443818" "00018088" "70" "397" "-2" "507" "2" "c.(?_397-2)_(507+2_?)del" "r.?" "p.?" "" "0000506569" "00018088" "30" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.(Asn10=)" "" "0000605571" "00018088" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(Ile113=)" "" "0000717353" "00018088" "30" "7" "-20" "7" "-20" "c.7-20G>T" "r.(=)" "p.(=)" "" "0000764281" "00018088" "90" "100" "0" "100" "0" "c.100dup" "r.(?)" "p.(Thr34AsnfsTer21)" "2" "0000764282" "00018088" "90" "465" "0" "475" "0" "c.465_475dup" "r.(?)" "p.(Lys159ThrfsTer39)" "5" "0000764283" "00018088" "90" "158" "-2" "158" "-2" "c.158-2A>C" "r.spl" "p.0?" "2i" "0000764310" "00018088" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Ter)" "3" "0000764311" "00018088" "90" "60" "0" "61" "0" "c.60_61del" "r.(?)" "p.(Cys21SerfsTer33)" "2" "0000764312" "00018088" "90" "60" "0" "61" "0" "c.60_61del" "r.(?)" "p.(Cys21SerfsTer33)" "2" "0000764313" "00018088" "90" "60" "0" "61" "0" "c.60_61del" "r.(?)" "p.(Cys21SerfsTer33)" "2" "0000764314" "00018088" "90" "94" "0" "97" "0" "c.94_97del" "r.(?)" "p.(Arg32Ter)" "2" "0000764315" "00018088" "90" "160" "0" "160" "0" "c.160dup" "r.(?)" "p.(Arg54LysfsTer13)" "3" "0000764316" "00018088" "90" "290" "0" "290" "0" "c.290del" "r.(?)" "p.(Asn97ThrfsTer97)" "4" "0000764317" "00018088" "90" "293" "0" "293" "0" "c.293dup" "r.(?)" "p.(Asn98LysfsTer23)" "4" "0000764318" "00018088" "90" "314" "0" "315" "0" "c.314_315del" "r.(?)" "p.(Phe105TrpfsTer15)" "4" "0000764319" "00018088" "90" "314" "0" "315" "0" "c.314_315del" "r.(?)" "p.(Phe105TrpfsTer15)" "4" "0000764320" "00018088" "90" "482" "0" "484" "0" "c.482_484del" "r.(?)" "p.(Glu161del)" "5" "0000764321" "00018088" "90" "482" "0" "484" "0" "c.482_484del" "r.(?)" "p.(Glu161del)" "5" "0000764322" "00018088" "90" "6" "2" "6" "2" "c.6+2T>C" "r.spl" "p.?" "1i" "0000764323" "00018088" "90" "158" "-1" "158" "-1" "c.158-1G>A" "r.spl" "p.?" "2i" "0000764324" "00018088" "90" "158" "-1" "158" "-1" "c.158-1G>A" "r.spl" "p.?" "2i" "0000764325" "00018088" "90" "396" "1" "396" "1" "c.396+1G>A" "r.spl" "p.?" "4i" "0000764326" "00018088" "90" "396" "1" "396" "1" "c.396+1G>T" "r.spl" "p.?" "4i" "0000764327" "00018088" "90" "396" "1" "396" "1" "c.396+1G>A" "r.spl" "p.?" "4i" "0000764489" "00018088" "90" "59" "0" "59" "0" "c.59T>A" "r.59u>a" "p.(Leu20His)" "2" "0000764490" "00018088" "90" "357" "0" "357" "0" "c.357T>G" "r.(?)" "p.(Tyr119Ter)" "4" "0000764503" "00018088" "90" "60" "0" "61" "0" "c.60_61del" "r.(?)" "p.(Cys21SerfsTer33)" "2" "0000764504" "00018088" "90" "60" "0" "61" "0" "c.60_61del" "r.(?)" "p.(Cys21SerfsTer33)" "2" "0000764505" "00018088" "90" "74" "0" "74" "0" "c.74del" "r.(?)" "p.(Cys25LeufsTer9)" "2" "0000764506" "00018088" "90" "95" "0" "96" "0" "c.95_96del" "r.(?)" "p.(Arg32ThrfsTer22)" "2" "0000764507" "00018088" "90" "143" "0" "157" "32" "c.143_157+32del" "r.7_157del" "p.?" "2_2i" "0000764508" "00018088" "90" "157" "1" "157" "16" "c.157+1_157+16del" "r.7_157del" "p.?" "2i" "0000764509" "00018088" "90" "198" "0" "202" "0" "c.198_202del" "r.(?)" "p.(Glu66AspfsTer26)" "3" "0000764510" "00018088" "90" "291" "0" "302" "0" "c.291_302del" "r.(?)" "p.(Asn98_Asp101del)" "4" "0000764511" "00018088" "90" "314" "0" "315" "0" "c.314_315del" "r.(?)" "p.(Phe105TrpfsTer15)" "4" "0000764512" "00018088" "90" "465" "0" "466" "0" "c.465_466del" "r.(?)" "p.(His155GlnfsTer16)" "5" "0000764513" "00018088" "90" "469" "0" "469" "0" "c.469del" "r.(?)" "p.(Ile157SerfsTer37)" "5" "0000764514" "00018088" "90" "508" "-2" "508" "-2" "c.508-2A>G" "r.spl" "p.?" "5i" "0000764749" "00018088" "90" "58" "0" "59" "0" "c.58_59del" "r.(?)" "p.(Cys21SerfsTer33)" "2" "0000764750" "00018088" "90" "460" "0" "460" "0" "c.460del" "r.(?)" "p.(Lys154AsnfsTer40)" "5" "0000883322" "00018088" "30" "6" "14" "6" "14" "c.6+14A>G" "r.(=)" "p.(=)" "" "0000911010" "00018088" "30" "158" "-18" "158" "-18" "c.158-18G>C" "r.(=)" "p.(=)" "" "0000960942" "00018088" "30" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.(Asn10=)" "" "0000973814" "00018088" "30" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(=)" "" "0000991033" "00018088" "50" "508" "-9" "508" "-5" "c.508-9_508-5del" "r.spl?" "p.?" "" "0001027797" "00018088" "70" "290" "0" "290" "0" "c.290del" "r.(?)" "p.(Asn97ThrfsTer97)" "" "0001050006" "00018088" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 75 "{{screeningid}}" "{{variantid}}" "0000104505" "0000169420" "0000211813" "0000443443" "0000211814" "0000443444" "0000211823" "0000443453" "0000211835" "0000443465" "0000211840" "0000443470" "0000211842" "0000443472" "0000211845" "0000443475" "0000211857" "0000443487" "0000211868" "0000443500" "0000211874" "0000443507" "0000211889" "0000443522" "0000211897" "0000443530" "0000211925" "0000443559" "0000211931" "0000443565" "0000211938" "0000443573" "0000211944" "0000443579" "0000211945" "0000443580" "0000211982" "0000443617" "0000211983" "0000443618" "0000212056" "0000443698" "0000212057" "0000443699" "0000212059" "0000443701" "0000212078" "0000443720" "0000212095" "0000443738" "0000212110" "0000443753" "0000212116" "0000443759" "0000212133" "0000443776" "0000212136" "0000443779" "0000212143" "0000443786" "0000212165" "0000443808" "0000212166" "0000443809" "0000212167" "0000443810" "0000212168" "0000443811" "0000212172" "0000443815" "0000212173" "0000443816" "0000212174" "0000443817" "0000212175" "0000443818" "0000363582" "0000764281" "0000363583" "0000764282" "0000363584" "0000764283" "0000363611" "0000764310" "0000363612" "0000764311" "0000363613" "0000764312" "0000363614" "0000764313" "0000363615" "0000764314" "0000363616" "0000764315" "0000363617" "0000764316" "0000363618" "0000764317" "0000363619" "0000764318" "0000363620" "0000764319" "0000363621" "0000764320" "0000363622" "0000764321" "0000363623" "0000764322" "0000363624" "0000764323" "0000363625" "0000764324" "0000363626" "0000764325" "0000363627" "0000764326" "0000363628" "0000764327" "0000363790" "0000764489" "0000363791" "0000764490" "0000363804" "0000764503" "0000363805" "0000764504" "0000363806" "0000764505" "0000363807" "0000764506" "0000363808" "0000764507" "0000363809" "0000764508" "0000363810" "0000764509" "0000363811" "0000764510" "0000363812" "0000764511" "0000363813" "0000764512" "0000363814" "0000764513" "0000363815" "0000764514" "0000364039" "0000764749" "0000364040" "0000764750"