### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPL5) # 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}}" "RPL5" "ribosomal protein L5" "1" "p22.1" "unknown" "LRG_1155" "UD_132085274118" "" "https://www.LOVD.nl/RPL5" "" "1" "10360" "6125" "603634" "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/RPL5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-21 08:46:23" "00000" "2026-01-20 18:57:21" ## 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}}" "00018078" "RPL5" "ribosomal protein L5" "001" "NM_000969.3" "" "NP_000960.2" "" "" "" "-78" "953" "894" "93297594" "93307481" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "03155" "DBA6" "anemia, Diamond-Blackfan, type 6 (DBA6, Aase syndrome)" "AD" "612561" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-21 08:45:54" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "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}}" "RPL5" "03155" "RPL5" "05484" ## Individuals ## Do not remove or alter this header ## ## Count = 134 "{{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}}" "00210727" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA001" "00210734" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA008" "00210743" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA017" "00210753" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA027" "00210756" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA030" "00210763" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA037" "00210774" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA048" "00210791" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA065" "00210793" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA067" "00210794" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA068" "00210798" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA072" "00210802" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA076" "00210803" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA077" "00210806" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA080" "00210829" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA103" "00210832" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA106" "00210834" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA108" "00210837" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA111" "00210840" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA114" "00210841" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA115" "00210842" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA116" "00210844" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA118" "00210845" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA119" "00210850" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA124" "00210852" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA126" "00210858" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA132" "00210859" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA133" "00210860" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA134" "00210868" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA142" "00210869" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA143" "00210882" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA156" "00210884" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA158" "00210886" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA160" "00210892" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA166" "00210919" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA193" "00210921" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA195" "00210923" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA197" "00210927" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA201" "00210944" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA218" "00210949" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA223" "00210950" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA224" "00210957" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA231" "00210961" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA235" "00210964" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA238" "00210974" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA248" "00210982" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA256" "00210985" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA259" "00210989" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA263" "00210990" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA264" "00210991" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA265" "00210996" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA270" "00211005" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA279" "00211008" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA282" "00211034" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA308" "00211041" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA315" "00211049" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA323" "00211051" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA325" "00211060" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA334" "00211084" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA358" "00211114" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel21" "00211115" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel22" "00211116" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel23" "00211117" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel24" "00211118" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel25" "00219178" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00305962" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00306195" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "93" "00362286" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00362342" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "F" "" "" "" "0" "" "" "" "Pl5_1" "00362343" "" "" "" "2" "" "00006" "{PMID:Boria 2010:20960466}" "family, affected father/daughter" "F" "" "" "" "0" "" "" "" "Pl5_2" "00362344" "" "" "00362343" "1" "" "00006" "{PMID:Boria 2010:20960466}" "father" "M" "" "" "" "0" "" "" "" "Pl5_2father" "00362345" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "M" "" "" "" "0" "" "" "" "Pl5_3" "00362346" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "F" "" "" "" "0" "" "" "" "Pl5_4" "00362347" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "M" "" "" "" "0" "" "" "" "Pl5_6" "00362348" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "F" "" "" "" "0" "" "" "" "Pl5_7" "00362349" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "F" "" "" "" "0" "" "" "" "Pl5_8" "00362350" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "M" "" "" "" "0" "" "" "" "Pl5_9" "00362351" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "M" "" "" "" "0" "" "" "" "Pl5_10" "00362352" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "M" "" "" "" "0" "" "" "" "Pl5_11" "00362353" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "F" "" "" "" "0" "" "" "" "Pl5_12" "00362358" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "" "" "0" "" "" "" "Pat1" "00362359" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00362360" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00362361" "" "" "" "2" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, carrier father" "M" "" "" "" "0" "" "" "" "Pat4" "00362362" "" "" "00362361" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "father" "" "" "" "" "0" "" "" "" "Pat4father" "00362363" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "M" "" "" "" "0" "" "" "" "Pat5" "00362364" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00362365" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "M" "" "" "" "0" "" "" "" "Pat7" "00362366" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "M" "" "" "" "0" "" "" "" "Pat8" "00362367" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "M" "" "" "" "0" "" "" "" "Pat9" "00362368" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "M" "" "" "" "0" "" "" "" "Pat10" "00362369" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "F" "" "" "" "0" "" "" "" "Pat11" "00362370" "" "" "" "2" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, carrier mother" "F" "" "" "" "0" "" "" "" "Pat12" "00362371" "" "" "00362370" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "mother" "F" "" "" "" "0" "" "" "" "Pat12mother" "00362372" "" "" "" "2" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, carrier mother" "F" "" "" "" "0" "" "" "" "Pat13" "00362373" "" "" "00362372" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "mother" "F" "" "" "" "0" "" "" "" "Pat13mother" "00362374" "" "" "" "3" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, carrier mother/sister" "F" "" "" "" "0" "" "" "" "Pat14" "00362375" "" "" "00362374" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "sister" "F" "" "" "" "0" "" "" "" "Pat14sister" "00362376" "" "" "00362374" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "mother" "F" "" "" "" "0" "" "" "" "Pat14mother" "00362377" "" "" "" "3" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, carrier brother/daughter" "M" "" "" "" "0" "" "" "" "Pat15" "00362378" "" "" "00362377" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "brother" "M" "" "" "" "0" "" "" "" "Pat15brother" "00362379" "" "" "00362377" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "daughter" "F" "" "" "" "0" "" "" "" "Pat15daughter" "00362380" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "M" "" "" "" "0" "" "" "" "Pat16" "00362381" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "M" "" "" "" "0" "" "" "" "Pat17" "00362382" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "" "M" "" "" "" "0" "" "" "" "Pat18" "00362554" "" "" "" "2" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "F" "" "Czech Republic" "" "0" "" "" "" "CZUH04mother" "00362555" "" "" "00362554" "1" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "M" "" "Czech Republic" "" "0" "" "" "" "CZUH04" "00362556" "" "" "" "1" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "F" "" "Czech Republic" "" "0" "" "" "" "CZUH32" "00362557" "" "" "" "1" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "M" "" "Czech Republic" "" "0" "" "" "" "CZUH41" "00362558" "" "" "" "1" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "F" "" "Czech Republic" "" "0" "" "" "" "CZUH26" "00362559" "" "" "" "1" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "M" "" "Czech Republic" "" "0" "" "" "" "CZUH40" "00362560" "" "" "" "2" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "F" "" "Czech Republic" "" "0" "" "" "" "CZUH24mother" "00362561" "" "" "00362560" "1" "" "00006" "{PMID:Cmejla 2009:19191325}" "" "M" "" "Czech Republic" "" "0" "" "" "" "CZUH24" "00362564" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "F" "" "Italy" "" "0" "" "" "" "RPL5-Pat1" "00362565" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "F" "" "Italy" "" "0" "" "" "" "RPL5-Pat2" "00362566" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "F" "" "Italy" "" "0" "" "" "" "RPL5-Pat3" "00362567" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Italy" "" "0" "" "" "" "RPL5-Pat4" "00362568" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "Italy" "" "0" "" "" "" "RPL5-Pat5" "00362569" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Italy" "" "0" "" "" "" "RPL5-Pat6" "00362570" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "F" "" "Italy" "" "0" "" "" "" "RPL5-Pat7" "00362571" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "M" "" "Italy" "" "0" "" "" "" "RPL5-Pat8" "00362572" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "RPL5-Pat9" "00362573" "" "" "" "2" "" "00006" "{PMID:Quarello 2010:19773262}" "2-generation family, affected mother/son" "M" "" "Italy" "" "0" "" "" "" "RPL5-Pat10" "00362574" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "M" "" "Italy" "" "0" "" "" "" "RPL5-Pat11" "00362575" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "F" "" "Italy" "" "0" "" "" "" "RPL5-Pat12" "00362781" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362782" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362783" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362807" "" "" "" "1" "" "00006" "{PMID:Konno 2010:20378560}" "" "F" "" "Japan" "" "0" "" "" "" "Pat10" "00362808" "" "" "" "1" "" "00006" "{PMID:Konno 2010:20378560}" "" "F" "" "Japan" "" "0" "" "" "" "Pat41" "00362809" "" "" "" "1" "" "00006" "{PMID:Konno 2010:20378560}" "" "F" "" "Japan" "" "0" "" "" "" "Pat55" "00362810" "" "" "" "1" "" "00006" "{PMID:Konno 2010:20378560}" "" "F" "" "Japan" "" "0" "" "" "" "Pat65" "00433122" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Norway" "" "0" "" "" "" "Pat99,1" "00460954" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 134 "{{individualid}}" "{{diseaseid}}" "00210727" "05484" "00210734" "05484" "00210743" "05484" "00210753" "05484" "00210756" "05484" "00210763" "05484" "00210774" "05484" "00210791" "05484" "00210793" "05484" "00210794" "05484" "00210798" "05484" "00210802" "05484" "00210803" "05484" "00210806" "05484" "00210829" "05484" "00210832" "05484" "00210834" "05484" "00210837" "05484" "00210840" "05484" "00210841" "05484" "00210842" "05484" "00210844" "05484" "00210845" "05484" "00210850" "05484" "00210852" "05484" "00210858" "05484" "00210859" "05484" "00210860" "05484" "00210868" "05484" "00210869" "05484" "00210882" "05484" "00210884" "05484" "00210886" "05484" "00210892" "05484" "00210919" "05484" "00210921" "05484" "00210923" "05484" "00210927" "05484" "00210944" "05484" "00210949" "05484" "00210950" "05484" "00210957" "05484" "00210961" "05484" "00210964" "05484" "00210974" "05484" "00210982" "05484" "00210985" "05484" "00210989" "05484" "00210990" "05484" "00210991" "05484" "00210996" "05484" "00211005" "05484" "00211008" "05484" "00211034" "05484" "00211041" "05484" "00211049" "05484" "00211051" "05484" "00211060" "05484" "00211084" "05484" "00211114" "05484" "00211115" "05484" "00211116" "05484" "00211117" "05484" "00211118" "05484" "00219178" "00198" "00305962" "00198" "00306195" "03155" "00362286" "05484" "00362342" "05484" "00362343" "05484" "00362344" "05484" "00362345" "05484" "00362346" "05484" "00362347" "05484" "00362348" "05484" "00362349" "05484" "00362350" "05484" "00362351" "05484" "00362352" "05484" "00362353" "05484" "00362358" "05484" "00362359" "05484" "00362360" "05484" "00362361" "05484" "00362362" "05484" "00362363" "05484" "00362364" "05484" "00362365" "05484" "00362366" "05484" "00362367" "05484" "00362368" "05484" "00362369" "05484" "00362370" "05484" "00362371" "05484" "00362372" "05484" "00362373" "05484" "00362374" "05484" "00362375" "05484" "00362376" "05484" "00362377" "05484" "00362378" "05484" "00362379" "05484" "00362380" "05484" "00362381" "05484" "00362382" "05484" "00362554" "05484" "00362555" "05484" "00362556" "05484" "00362557" "05484" "00362558" "05484" "00362559" "05484" "00362560" "05484" "00362561" "05484" "00362564" "05484" "00362565" "05484" "00362566" "05484" "00362567" "05484" "00362568" "05484" "00362569" "05484" "00362570" "05484" "00362571" "05484" "00362572" "05484" "00362573" "05484" "00362574" "05484" "00362575" "05484" "00362781" "00198" "00362782" "00198" "00362783" "00198" "00362807" "05484" "00362808" "05484" "00362809" "05484" "00362810" "05484" "00433122" "05292" "00460954" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03155, 05292, 05484 ## Count = 127 "{{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}}" "0000159289" "05484" "00210727" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159296" "05484" "00210734" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159305" "05484" "00210743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159315" "05484" "00210753" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159318" "05484" "00210756" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159325" "05484" "00210763" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159336" "05484" "00210774" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159353" "05484" "00210791" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159355" "05484" "00210793" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159356" "05484" "00210794" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159360" "05484" "00210798" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159364" "05484" "00210802" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159365" "05484" "00210803" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159368" "05484" "00210806" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159391" "05484" "00210829" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159394" "05484" "00210832" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159396" "05484" "00210834" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159399" "05484" "00210837" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159402" "05484" "00210840" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159403" "05484" "00210841" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159404" "05484" "00210842" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159406" "05484" "00210844" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159407" "05484" "00210845" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159412" "05484" "00210850" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159414" "05484" "00210852" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159420" "05484" "00210858" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159421" "05484" "00210859" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159422" "05484" "00210860" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159430" "05484" "00210868" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159431" "05484" "00210869" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159444" "05484" "00210882" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159446" "05484" "00210884" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159448" "05484" "00210886" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159454" "05484" "00210892" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159481" "05484" "00210919" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159483" "05484" "00210921" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159485" "05484" "00210923" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159489" "05484" "00210927" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159506" "05484" "00210944" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159511" "05484" "00210949" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159512" "05484" "00210950" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159519" "05484" "00210957" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159523" "05484" "00210961" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159526" "05484" "00210964" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159536" "05484" "00210974" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159544" "05484" "00210982" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159547" "05484" "00210985" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159551" "05484" "00210989" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159552" "05484" "00210990" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159553" "05484" "00210991" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159558" "05484" "00210996" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159567" "05484" "00211005" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159570" "05484" "00211008" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159596" "05484" "00211034" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159603" "05484" "00211041" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159611" "05484" "00211049" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159613" "05484" "00211051" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159622" "05484" "00211060" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000159646" "05484" "00211084" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000167726" "00198" "00219178" "01807" "Unknown" "" "HP:0004322 (Short stature)" "" "" "" "" "" "" "" "" "" "" "" "0000231810" "00198" "00305962" "01807" "Unknown" "" "Cardiomyopathy (HP:0001638); Cerebral atrophy (HP:0002059)" "" "" "" "" "" "" "" "" "" "" "" "0000232043" "03155" "00306195" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000257755" "05484" "00362342" "00006" "Isolated (sporadic)" "" "triphalangeal thumb" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257756" "05484" "00362343" "00006" "Familial, autosomal dominant" "" "duplicated ureter; growth retardation; responsive to steroid treatment" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257757" "05484" "00362344" "00006" "Familial, autosomal dominant" "" "heart murmur; growth retardation; responsive to steroid treatment" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257758" "05484" "00362345" "00006" "Isolated (sporadic)" "" "cleft palate, abnormal right thumb; growth retardation; responsive to steroid treatment" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257759" "05484" "00362346" "00006" "Isolated (sporadic)" "" "triphalangeal thumb" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257760" "05484" "00362347" "00006" "Isolated (sporadic)" "" "cleft lip and palate, triphalangeal thumb, short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257761" "05484" "00362348" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257762" "05484" "00362349" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257763" "05484" "00362350" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257764" "05484" "00362351" "00006" "Isolated (sporadic)" "" "dysmorphic face, ventricular septal defect, cleft soft palate, triphalangeal thumbs, reflux of the left ureter; growth retardation; responsive to steroid treatment" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257765" "05484" "00362352" "00006" "Isolated (sporadic)" "" "cleft lip, abnormality of bilateral second toe, aortic valve defect; growth retardation; unresponsive to steroid treatment" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257766" "05484" "00362353" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257771" "05484" "00362358" "00006" "Isolated (sporadic)" "" "responsive to high doses only; red blood cell transfusion" "" "1d" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257772" "05484" "00362359" "00006" "Isolated (sporadic)" "" "cleft lip, cleft palate; responsive to steroid therapy; red blood cell transfusion" "" "2m" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257773" "05484" "00362360" "00006" "Isolated (sporadic)" "" "cleft palate, atrial septal defect, hypoplastic thumb, micrognathia, tracheomalacia; initially responsive to steroid therapy; stem cell transplant" "" "10m" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257774" "05484" "00362361" "00006" "Familial, autosomal dominant" "" "no malformations; unresponsive to steroid therapy; red blood cell transfusion" "" "3m" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257775" "05484" "00362362" "00006" "Unknown" "" "no anemia" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257776" "05484" "00362363" "00006" "Isolated (sporadic)" "" "micrognathia, hypertelorism, soft cleft palate, triphalangeal right thumb, widened webbed spaced between first and second toes, hypospadias" "" "1d" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257777" "05484" "00362364" "00006" "Isolated (sporadic)" "" "small jaw, cleft palate, triphlangeal thumb, hip dysplasia, rib anomalies; responsive to steroid therapy" "" "10m" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257778" "05484" "00362365" "00006" "Isolated (sporadic)" "" "partial anomalous pulmonary venous return; unresponsive to steroid therapy; red blood cell transfusion" "" "1d" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257779" "05484" "00362366" "00006" "Isolated (sporadic)" "" "multiple congenital heart defectsa; responsive to steroid therapy; red blood cell transfusion" "" "9m" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257780" "05484" "00362367" "00006" "Isolated (sporadic)" "" "long proximal thumb phalanges bilateral, multiple congenital heart defects" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257781" "05484" "00362368" "00006" "Isolated (sporadic)" "" "small jaw, cleft palate, bronchiopharyngeal malacia, mild hydrocephalus; responsive to steroid therapy" "" "10m" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257782" "05484" "00362369" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257783" "05484" "00362370" "00006" "Familial, autosomal dominant" "" "cleft soft palate; unresponsive to steroid therapy; red blood cell transfusion" "" "11y" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257784" "05484" "00362371" "00006" "Unknown" "" "no malformations; refused steroid trial; red blood cell transfusion" "" "55y" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257785" "05484" "00362372" "00006" "Familial, autosomal dominant" "" "cleft palate, bifid uvula, hypoplastic thumb; red blood cell transfusion" "" "12m" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257786" "05484" "00362373" "00006" "Unknown" "" "no malformations; red blood cell transfusion" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257787" "05484" "00362374" "00006" "Familial, autosomal dominant" "" "mandibular hypoplasia with retrognathia, cleft palate with bifid uvula, dysplastic thumbs, atrial septal defect type II; unresponsive to steroid therapy; red blood cell transfusion" "" "12m" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257788" "05484" "00362375" "00006" "Familial, autosomal dominant" "" "mandibular hypoplasia with retrognathia, cleft palate, triphalangeal thumbs, persistent foramen ovale, atrial septal defect type II" "" "12m" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257789" "05484" "00362376" "00006" "Unknown" "" "no malformations" "" "20y" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257790" "05484" "00362377" "00006" "Familial, autosomal dominant" "" "triphalangeal thumbs, ventricular septal defect; responsive to steroid therapy" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257791" "05484" "00362378" "00006" "Familial, autosomal dominant" "" "cleft lip, triphalangeal thumbs; unresponsive to steroid therapy; red blood cell transfusion" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257792" "05484" "00362379" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257793" "05484" "00362380" "00006" "Isolated (sporadic)" "" "inability to flex right distal thumb phalanx; responsive to steroid therapy" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257794" "05484" "00362381" "00006" "Isolated (sporadic)" "" "no malformations; responsive to steroid therapy; red blood cell transfusion" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257795" "05484" "00362382" "00006" "Isolated (sporadic)" "" "no malformations; responsive to steroid therapy; red blood cell transfusion" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257967" "05484" "00362554" "00006" "Unknown" "49y" "small for gestational age; flat thenar; microphthalmia; short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257968" "05484" "00362555" "00006" "Familial, autosomal dominant" "21y" "small for gestational age; flat thenar; short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257969" "05484" "00362556" "00006" "Isolated (sporadic)" "22y" "small for gestational age; flat thenar; tetralogy of Fallot" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257970" "05484" "00362557" "00006" "Isolated (sporadic)" "8y" "small for gestational age; flat thenar; facial dysmorphism" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257971" "05484" "00362558" "00006" "Isolated (sporadic)" "19y" "19y-deceased; small for gestational age; flat thenar; bifid thumb" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257972" "05484" "00362559" "00006" "Isolated (sporadic)" "1y" "flat thenar" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257973" "05484" "00362560" "00006" "Unknown" "42y" "small for gestational age; flat thenar, short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257974" "05484" "00362561" "00006" "Familial, autosomal dominant" "20y" "small for gestational age; flat thenar, short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257977" "05484" "00362564" "00006" "Unknown" "" "no malformations" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257978" "05484" "00362565" "00006" "Unknown" "" "atrial septal defect, flat thenar eminence, short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257979" "05484" "00362566" "00006" "Isolated (sporadic)" "" "cleft lip, cleft palate, short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257980" "05484" "00362567" "00006" "Isolated (sporadic)" "" "myelomeningocele, cleft palate, facial dysmorphism" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257981" "05484" "00362568" "00006" "Isolated (sporadic)" "" "flat thenar eminence, grouped carpal bones, short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257982" "05484" "00362569" "00006" "Isolated (sporadic)" "" "micrognathia, palpebral ptosis, cleft palate, triphalangeal thumb, brachydactyly, learning difficulties, aortic valve stenosis, short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257983" "05484" "00362570" "00006" "Isolated (sporadic)" "" "cleft palate, micrognathia, triphalangeal thumb" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257984" "05484" "00362571" "00006" "Unknown" "" "facial dysmorphisms, strabism" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257985" "05484" "00362572" "00006" "Isolated (sporadic)" "" "cleft palate, persistent foramen ovale" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257986" "05484" "00362573" "00006" "Familial, autosomal dominant" "" "palpebral ptosis" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257987" "05484" "00362574" "00006" "Unknown" "" "short stature" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000257988" "05484" "00362575" "00006" "Unknown" "" "cleft palate, micrognathia, flat thenar eminence, persistent foramen ovale, facial dysmorphisms" "" "" "" "" "" "" "" "" "DBA6" "Diamond-Blackfan anemia" "" "0000258151" "00198" "00362781" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Diamond–Blackfan" "" "0000258152" "00198" "00362782" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Diamond–Blackfan" "" "0000258153" "00198" "00362783" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Diamond–Blackfan" "" "0000258177" "05484" "00362807" "00006" "Isolated (sporadic)" "" "see paper; ..." "0m" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000258178" "05484" "00362808" "00006" "Isolated (sporadic)" "" "see paper; ..." "1y" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000258179" "05484" "00362809" "00006" "Isolated (sporadic)" "" "see paper; ..." "3y" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000258180" "05484" "00362810" "00006" "Isolated (sporadic)" "" "see paper; ..." "4m" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000323648" "05292" "00433122" "00006" "Isolated (sporadic)" "25y" "neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 134 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211805" "00210727" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211812" "00210734" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211821" "00210743" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211831" "00210753" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211834" "00210756" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211841" "00210763" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211852" "00210774" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211869" "00210791" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211871" "00210793" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211872" "00210794" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211876" "00210798" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211880" "00210802" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211881" "00210803" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211884" "00210806" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211907" "00210829" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211910" "00210832" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211912" "00210834" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211915" "00210837" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211918" "00210840" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211919" "00210841" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211920" "00210842" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211922" "00210844" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211923" "00210845" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211928" "00210850" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211930" "00210852" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211936" "00210858" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211937" "00210859" "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" "0000211946" "00210868" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211947" "00210869" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211960" "00210882" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211962" "00210884" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211964" "00210886" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211970" "00210892" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211997" "00210919" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211999" "00210921" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212001" "00210923" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212005" "00210927" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212022" "00210944" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212027" "00210949" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212028" "00210950" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212035" "00210957" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212039" "00210961" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212042" "00210964" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212052" "00210974" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212060" "00210982" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212063" "00210985" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212067" "00210989" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212068" "00210990" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212069" "00210991" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212074" "00210996" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212083" "00211005" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212086" "00211008" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212112" "00211034" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212119" "00211041" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212127" "00211049" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212129" "00211051" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212138" "00211060" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212162" "00211084" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ" "DNA" "" "" "0000212192" "00211114" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212193" "00211115" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212194" "00211116" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212195" "00211117" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212196" "00211118" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000220251" "00219178" "1" "01807" "01807" "2019-02-07 14:50:13" "" "" "SEQ" "DNA" "" "" "0000307092" "00305962" "1" "01807" "01807" "2020-07-06 11:50:01" "" "" "SEQ" "DNA" "" "" "0000307329" "00306195" "1" "03695" "03695" "2020-07-11 07:30:44" "" "" "SEQ-NG" "DNA" "" "" "0000363515" "00362286" "1" "00006" "00006" "2021-04-20 19:40:59" "" "" "SEQ" "DNA" "" "" "0000363570" "00362342" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363571" "00362343" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363572" "00362344" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363573" "00362345" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363574" "00362346" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363575" "00362347" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363576" "00362348" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363577" "00362349" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363578" "00362350" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363579" "00362351" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363580" "00362352" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363581" "00362353" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" "0000363586" "00362358" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363587" "00362359" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363588" "00362360" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363589" "00362361" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363590" "00362362" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363591" "00362363" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363592" "00362364" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363593" "00362365" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363594" "00362366" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363595" "00362367" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363596" "00362368" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363597" "00362369" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363598" "00362370" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363599" "00362371" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363600" "00362372" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363601" "00362373" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363602" "00362374" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363603" "00362375" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363604" "00362376" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363605" "00362377" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363606" "00362378" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363607" "00362379" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363608" "00362380" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363609" "00362381" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363610" "00362382" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363782" "00362554" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363783" "00362555" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363784" "00362556" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363785" "00362557" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363786" "00362558" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363787" "00362559" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363788" "00362560" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363789" "00362561" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363792" "00362564" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363793" "00362565" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363794" "00362566" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363795" "00362567" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363796" "00362568" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363797" "00362569" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363798" "00362570" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363799" "00362571" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363800" "00362572" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363801" "00362573" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363802" "00362574" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000363803" "00362575" "1" "00006" "00006" "2021-04-22 14:53:31" "" "" "SEQ" "DNA" "" "" "0000364009" "00362781" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364010" "00362782" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364011" "00362783" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364035" "00362807" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364036" "00362808" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364037" "00362809" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364038" "00362810" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000434553" "00433122" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000462586" "00460954" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 135 "{{screeningid}}" "{{geneid}}" "0000211805" "RPL5" "0000211812" "RPL5" "0000211821" "RPL5" "0000211831" "RPL5" "0000211834" "RPL5" "0000211841" "RPL5" "0000211852" "RPL5" "0000211869" "RPL5" "0000211871" "RPL5" "0000211871" "RPS19" "0000211872" "RPL5" "0000211876" "RPL5" "0000211880" "RPL5" "0000211881" "RPL5" "0000211884" "RPL5" "0000211907" "RPL5" "0000211910" "RPL5" "0000211912" "RPL5" "0000211915" "RPL5" "0000211918" "RPL5" "0000211919" "RPL5" "0000211920" "RPL5" "0000211922" "RPL5" "0000211923" "RPL5" "0000211928" "RPL5" "0000211930" "RPL5" "0000211936" "RPL5" "0000211937" "RPL5" "0000211938" "RPL11" "0000211938" "RPL5" "0000211946" "RPL5" "0000211947" "RPL5" "0000211960" "RPL5" "0000211962" "RPL5" "0000211964" "RPL5" "0000211970" "RPL5" "0000211997" "RPL35A" "0000211997" "RPL5" "0000211999" "RPL19" "0000211999" "RPL5" "0000212001" "RPL5" "0000212005" "RPL5" "0000212022" "RPL5" "0000212027" "RPL5" "0000212028" "RPL5" "0000212035" "RPL5" "0000212039" "RPL5" "0000212042" "RPL5" "0000212052" "RPL5" "0000212060" "RPL5" "0000212063" "RPL5" "0000212067" "RPL5" "0000212068" "RPL5" "0000212069" "RPL5" "0000212074" "RPL5" "0000212083" "RPL5" "0000212086" "RPL5" "0000212112" "RPL5" "0000212119" "RPL5" "0000212127" "RPL5" "0000212129" "RPL5" "0000212138" "RPL5" "0000212162" "RPL5" "0000212192" "RPL5" "0000212193" "RPL5" "0000212194" "RPL5" "0000212195" "RPL5" "0000212196" "RPL5" "0000307329" "RPL5" "0000363515" "RPS24" "0000363570" "RPL5" "0000363571" "RPL5" "0000363572" "RPL5" "0000363573" "RPL5" "0000363574" "RPL5" "0000363575" "RPL5" "0000363576" "RPL5" "0000363577" "RPL5" "0000363578" "RPL5" "0000363579" "RPL5" "0000363580" "RPL5" "0000363581" "RPL5" "0000363586" "RPL5" "0000363587" "RPL5" "0000363588" "RPL5" "0000363589" "RPL5" "0000363590" "RPL5" "0000363591" "RPL5" "0000363592" "RPL5" "0000363593" "RPL5" "0000363594" "RPL5" "0000363595" "RPL5" "0000363596" "RPL5" "0000363597" "RPL5" "0000363598" "RPL5" "0000363599" "RPL5" "0000363600" "RPL5" "0000363601" "RPL5" "0000363602" "RPL5" "0000363603" "RPL5" "0000363604" "RPL5" "0000363605" "RPL5" "0000363606" "RPL5" "0000363607" "RPL5" "0000363608" "RPL5" "0000363609" "RPL5" "0000363610" "RPL5" "0000363782" "RPL5" "0000363783" "RPL5" "0000363784" "RPL5" "0000363785" "RPL5" "0000363786" "RPL5" "0000363787" "RPL5" "0000363788" "RPL5" "0000363789" "RPL5" "0000363792" "RPL5" "0000363793" "RPL5" "0000363794" "RPL5" "0000363795" "RPL5" "0000363796" "RPL5" "0000363797" "RPL5" "0000363798" "RPL5" "0000363799" "RPL5" "0000363800" "RPL5" "0000363801" "RPL5" "0000363802" "RPL5" "0000363803" "RPL5" "0000364009" "RPL5" "0000364010" "RPL5" "0000364011" "RPL5" "0000364035" "RPL5" "0000364036" "RPL5" "0000364037" "RPL5" "0000364038" "RPL5" "0000462586" "RPL5" ## 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 = 152 "{{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}}" "0000345721" "0" "50" "1" "93301840" "93301840" "subst" "0.000109641" "02327" "RPL5_000002" "g.93301840G>A" "" "" "" "RPL5(NM_000969.3):c.418G>A (p.(Gly140Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92836283G>A" "" "VUS" "" "0000347719" "0" "70" "1" "93297672" "93297672" "subst" "0" "02327" "RPL5_000001" "g.93297672A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92832115A>G" "" "likely pathogenic" "" "0000443435" "1" "90" "1" "93303072" "93303072" "subst" "1.21912E-5" "00006" "FAM69A_000003" "g.93303072G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92837515G>A" "" "pathogenic (dominant)" "" "0000443442" "1" "90" "1" "93297674" "93297674" "subst" "0" "00006" "RPL5_000005" "g.93297674G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92832117G>A" "" "pathogenic (dominant)" "" "0000443451" "1" "90" "1" "93299197" "93299200" "del" "0" "00006" "RPL5_000021" "g.93299197_93299200del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299194_93299197del" "" "Germline" "" "" "0" "" "" "g.92833640_92833643del" "" "pathogenic (dominant)" "" "0000443461" "1" "90" "1" "93299203" "93299204" "del" "0" "00006" "RPL5_000023" "g.93299203_93299204del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299200_93299201del" "" "Germline" "" "" "0" "" "" "g.92833646_92833647del" "" "pathogenic (dominant)" "" "0000443464" "1" "90" "1" "93299009" "93299009" "subst" "0" "00006" "RPL5_000014" "g.93299009C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833452C>T" "" "pathogenic (dominant)" "" "0000443471" "1" "90" "1" "93298945" "93298945" "subst" "0" "00006" "RPL5_000009" "g.93298945G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833388G>A" "" "pathogenic (dominant)" "" "0000443482" "1" "90" "1" "93299203" "93299204" "del" "0" "00006" "RPL5_000023" "g.93299203_93299204del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299200_93299201del" "" "Germline" "" "" "0" "" "" "g.92833646_92833647del" "" "pathogenic (dominant)" "" "0000443501" "1" "90" "1" "93299169" "93299169" "dup" "0" "00006" "RPL5_000019" "g.93299169dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299166_93299167insC" "" "Germline" "" "" "0" "" "" "g.92833612dup" "" "pathogenic (dominant)" "" "0000443504" "1" "90" "1" "93299169" "93299169" "dup" "0" "00006" "RPL5_000019" "g.93299169dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299166_93299167insC" "" "Germline" "" "" "0" "" "" "g.92833612dup" "" "pathogenic (dominant)" "" "0000443505" "1" "90" "1" "93298990" "93298990" "subst" "0" "00006" "RPL5_000012" "g.93298990C>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833433C>A" "" "pathogenic (dominant)" "" "0000443509" "1" "90" "1" "93299218" "93299218" "subst" "0" "00006" "RPL5_000024" "g.93299218G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833661G>A" "" "pathogenic (dominant)" "" "0000443513" "1" "90" "1" "93301901" "93301902" "del" "0" "00006" "RPL5_000038" "g.93301901_93301902del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93301898_93301899del" "" "Germline" "" "" "0" "" "" "g.92836344_92836345del" "" "pathogenic (dominant)" "" "0000443514" "1" "90" "1" "93299197" "93299200" "del" "0" "00006" "RPL5_000021" "g.93299197_93299200del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299194_93299197del" "" "Germline" "" "" "0" "" "" "g.92833640_92833643del" "" "pathogenic (dominant)" "" "0000443517" "1" "90" "1" "93299017" "93299017" "subst" "0" "00006" "RPL5_000017" "g.93299017T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833460T>G" "" "pathogenic (dominant)" "" "0000443541" "1" "90" "1" "93301748" "93301764" "del" "0" "00006" "RPL5_000032" "g.93301748_93301764del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93301746_93301762del" "" "Germline" "" "" "0" "" "" "g.92836191_92836207del" "" "pathogenic (dominant)" "" "0000443544" "1" "90" "1" "93299218" "93299218" "subst" "0" "00006" "RPL5_000025" "g.93299218G>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833661G>T" "" "pathogenic (dominant)" "" "0000443546" "1" "90" "1" "93303016" "93303047" "del" "0" "00006" "FAM69A_000001" "g.93303016_93303047del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92837459_92837490del" "" "pathogenic (dominant)" "" "0000443549" "1" "90" "1" "93303149" "93303149" "subst" "0" "00006" "FAM69A_000005" "g.93303149C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92837592C>T" "" "pathogenic (dominant)" "" "0000443552" "1" "90" "1" "93298989" "93298989" "dup" "0" "00006" "RPL5_000011" "g.93298989dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93298988_93298989insA" "" "Germline" "" "" "0" "" "" "g.92833432dup" "" "pathogenic (dominant)" "" "0000443553" "1" "90" "1" "93297673" "93297673" "subst" "0" "00006" "RPL5_000003" "g.93297673T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92832116T>G" "" "pathogenic (dominant)" "" "0000443554" "1" "90" "1" "93297673" "93297673" "subst" "0" "00006" "RPL5_000003" "g.93297673T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92832116T>G" "" "pathogenic (dominant)" "" "0000443556" "1" "90" "1" "93306126" "93306134" "dup" "0" "00006" "FAM69A_000008" "g.93306126_93306134dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93306123_93306124insAGATGTATA" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443557" "1" "90" "1" "93298990" "93298990" "subst" "0" "00006" "RPL5_000012" "g.93298990C>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833433C>A" "" "pathogenic (dominant)" "" "0000443562" "1" "90" "1" "93301876" "93301876" "del" "0" "00006" "RPL5_000036" "g.93301876del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92836319del" "" "pathogenic (dominant)" "" "0000443564" "1" "90" "1" "93298990" "93298990" "subst" "0" "00006" "RPL5_000012" "g.93298990C>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833433C>A" "" "pathogenic (dominant)" "" "0000443570" "1" "90" "1" "93300354" "93300354" "subst" "0" "00006" "RPL5_000029" "g.93300354G>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92834797G>T" "" "pathogenic (dominant)" "" "0000443571" "1" "90" "1" "93303020" "93303020" "subst" "0" "00006" "FAM69A_000002" "g.93303020C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92837463C>T" "" "pathogenic (dominant)" "" "0000443572" "1" "90" "1" "93301763" "93301763" "del" "0" "00006" "RPL5_000033" "g.93301763del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93301762del" "" "Germline" "" "" "0" "" "" "g.92836206del" "" "pathogenic (dominant)" "" "0000443581" "1" "90" "1" "93300381" "93300381" "dup" "0" "00006" "RPL5_000030" "g.93300381dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93300380_93300381insT" "" "Germline" "" "" "0" "" "" "g.92834824dup" "" "pathogenic (dominant)" "" "0000443582" "1" "90" "1" "93300381" "93300381" "dup" "0" "00006" "RPL5_000030" "g.93300381dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93300380_93300381insT" "" "Germline" "" "" "0" "" "" "g.92834824dup" "" "pathogenic (dominant)" "" "0000443595" "1" "90" "1" "93300324" "93300337" "del" "0" "00006" "RPL5_000027" "g.93300324_93300337del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93300323_93300336del" "" "Germline" "" "" "0" "" "" "g.92834767_92834780del" "" "pathogenic (dominant)" "" "0000443597" "1" "90" "1" "93306120" "93306120" "subst" "0" "00006" "FAM69A_000007" "g.93306120T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92840563T>G" "" "pathogenic (dominant)" "" "0000443599" "1" "90" "1" "93299197" "93299200" "del" "0" "00006" "RPL5_000021" "g.93299197_93299200del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299194_93299197del" "" "Germline" "" "" "0" "" "" "g.92833640_92833643del" "" "pathogenic (dominant)" "" "0000443605" "1" "90" "1" "93299009" "93299009" "subst" "0" "00006" "RPL5_000014" "g.93299009C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833452C>T" "" "pathogenic (dominant)" "" "0000443635" "1" "90" "1" "93299197" "93299200" "del" "0" "00006" "RPL5_000021" "g.93299197_93299200del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299194_93299197del" "" "Germline" "" "" "0" "" "" "g.92833640_92833643del" "" "pathogenic (dominant)" "" "0000443639" "1" "90" "1" "93297675" "93297675" "subst" "0" "00006" "RPL5_000006" "g.93297675G>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92832118G>T" "" "pathogenic (dominant)" "" "0000443641" "1" "90" "1" "93297675" "93297675" "subst" "0" "00006" "RPL5_000006" "g.93297675G>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92832118G>T" "" "pathogenic (dominant)" "" "0000443646" "1" "90" "1" "93299219" "93299219" "dup" "0" "00006" "RPL5_000026" "g.93299219dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299218_93299219insT" "" "Germline" "" "" "0" "" "" "g.92833662dup" "" "pathogenic (dominant)" "" "0000443663" "1" "90" "1" "93301896" "93301896" "dup" "0" "00006" "RPL5_000037" "g.93301896dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93301893_93301894insA" "" "Germline" "" "" "0" "" "" "g.92836339dup" "" "pathogenic (dominant)" "" "0000443668" "1" "90" "1" "93303192" "93303192" "subst" "0" "00006" "FAM69A_000006" "g.93303192T>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92837635T>C" "" "pathogenic (dominant)" "" "0000443669" "1" "90" "1" "93301857" "93301857" "subst" "0" "00006" "RPL5_000035" "g.93301857T>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92836300T>A" "" "pathogenic (dominant)" "" "0000443676" "1" "90" "1" "93298989" "93298989" "dup" "0" "00006" "RPL5_000011" "g.93298989dup" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93298988_93298989insA" "" "Germline" "" "" "0" "" "" "g.92833432dup" "" "pathogenic (dominant)" "" "0000443680" "1" "90" "1" "93297673" "93297673" "subst" "0" "00006" "RPL5_000004" "g.93297673T>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92832116T>C" "" "pathogenic (dominant)" "" "0000443683" "1" "90" "1" "93299203" "93299204" "del" "0" "00006" "RPL5_000023" "g.93299203_93299204del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299200_93299201del" "" "Germline" "" "" "0" "" "" "g.92833646_92833647del" "" "pathogenic (dominant)" "" "0000443694" "1" "90" "1" "93298982" "93298983" "del" "0" "00006" "RPL5_000010" "g.93298982_93298983del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833425_92833426del" "" "pathogenic (dominant)" "" "0000443702" "1" "90" "1" "93303122" "93303122" "subst" "0" "00006" "FAM69A_000004" "g.93303122G>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92837565G>T" "" "pathogenic (dominant)" "" "0000443705" "1" "90" "1" "93299015" "93299015" "subst" "0" "00006" "RPL5_000015" "g.93299015G>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833458G>T" "" "pathogenic (dominant)" "" "0000443709" "1" "90" "1" "93299009" "93299009" "subst" "0" "00006" "RPL5_000014" "g.93299009C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833452C>T" "" "pathogenic (dominant)" "" "0000443710" "1" "90" "1" "93299117" "93299118" "del" "0" "00006" "RPL5_000018" "g.93299117_93299118del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299116_93299117del" "" "Germline" "" "" "0" "" "" "g.92833560_92833561del" "" "pathogenic (dominant)" "" "0000443711" "1" "90" "1" "93300471" "93300471" "subst" "0" "00006" "RPL5_000031" "g.93300471G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92834914G>A" "" "pathogenic (dominant)" "" "0000443716" "1" "90" "1" "93299015" "93299015" "subst" "0" "00006" "RPL5_000016" "g.93299015G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833458G>A" "" "pathogenic (dominant)" "" "0000443725" "1" "90" "1" "93298991" "93298991" "subst" "0" "00006" "RPL5_000013" "g.93298991C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833434C>T" "" "pathogenic (dominant)" "" "0000443729" "1" "90" "1" "93297674" "93297674" "subst" "0" "00006" "RPL5_000005" "g.93297674G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92832117G>A" "" "pathogenic (dominant)" "" "0000443755" "1" "90" "1" "93301920" "93301924" "delins" "0" "00006" "RPL5_000039" "g.93301920_93301924delinsN[39]" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443762" "1" "90" "1" "93299184" "93299187" "del" "0" "00006" "RPL5_000020" "g.93299184_93299187del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93299183_93299186del" "" "Germline" "" "" "0" "" "" "g.92833627_92833630del" "" "pathogenic (dominant)" "" "0000443770" "1" "90" "1" "93301766" "93301769" "del" "0" "00006" "RPL5_000034" "g.93301766_93301769del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.93301765_93301768del" "" "Germline" "" "" "0" "" "" "g.92836209_92836212del" "" "pathogenic (dominant)" "" "0000443772" "1" "90" "1" "93301920" "93301924" "delins" "0" "00006" "RPL5_000039" "g.93301920_93301924delinsN[39]" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443781" "1" "90" "1" "93299201" "93299201" "del" "0" "00006" "RPL5_000022" "g.93299201del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.92833644del" "" "pathogenic (dominant)" "" "0000443805" "1" "90" "1" "93301920" "93301924" "delins" "0" "00006" "RPL5_000039" "g.93301920_93301924delinsN[39]" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443835" "0" "70" "1" "93298527" "93298641" "del" "0" "00006" "RPL5_000007" "g.(?_93298527)_(93298641_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443836" "0" "70" "1" "93298527" "93298641" "del" "0" "00006" "RPL5_000007" "g.(?_93298527)_(93298641_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443837" "0" "70" "1" "93298944" "93299017" "del" "0" "00006" "RPL5_000008" "g.(?_93298944)_(93299017_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443838" "0" "70" "1" "93300334" "93300472" "del" "0" "00006" "RPL5_000028" "g.(?_93300334)_(93300472_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443839" "0" "70" "1" "93306106" "93306198" "del" "0" "00006" "RPL5_000040" "g.(?_93306106)_(93306198_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000455204" "0" "90" "1" "93299171" "93299174" "del" "0" "01807" "RPL5_000041" "g.93299171_93299174del" "" "" "" "143_146delAATA" "" "Unknown" "" "" "0" "" "" "g.92833614_92833617del" "" "pathogenic" "" "0000508595" "0" "30" "1" "93297677" "93297677" "subst" "0.00246619" "01804" "FAM69A_000009" "g.93297677G>C" "" "" "" "RPL5(NM_000969.3):c.3+3G>C (p.?), RPL5(NM_000969.5):c.3+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92832120G>C" "" "likely benign" "" "0000508596" "0" "30" "1" "93306215" "93306215" "dup" "0" "01943" "FAM69A_000010" "g.93306215dup" "" "" "" "RPL5(NM_000969.5):c.794+19dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92840658dup" "" "likely benign" "" "0000606006" "0" "30" "1" "93301755" "93301755" "subst" "4.06438E-6" "01943" "FAM69A_000011" "g.93301755T>C" "" "" "" "RPL5(NM_000969.5):c.333T>C (p.N111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92836198T>C" "" "likely benign" "" "0000673657" "0" "90" "1" "93301824" "93301824" "dup" "0" "01807" "RPL5_000043" "g.93301824dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000673948" "0" "70" "1" "93299123" "93299123" "subst" "0" "03695" "RPL5_000042" "g.93299123C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675955" "0" "30" "1" "93297677" "93297677" "subst" "0.00246619" "02326" "FAM69A_000009" "g.93297677G>C" "" "" "" "RPL5(NM_000969.3):c.3+3G>C (p.?), RPL5(NM_000969.5):c.3+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717733" "0" "30" "1" "93297677" "93297677" "subst" "0.00246619" "01943" "FAM69A_000009" "g.93297677G>C" "" "" "" "RPL5(NM_000969.3):c.3+3G>C (p.?), RPL5(NM_000969.5):c.3+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717734" "0" "50" "1" "93301743" "93301743" "subst" "0.000670955" "01943" "FAM69A_000012" "g.93301743A>G" "" "" "" "RPL5(NM_000969.5):c.325-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000764213" "0" "90" "1" "93299162" "93299166" "del" "0" "00006" "RPL5_000044" "g.93299162_93299166del" "" "" "" "134_138delACACA" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764269" "0" "90" "1" "93297672" "93297672" "subst" "0" "00006" "RPL5_000001" "g.93297672A>G" "" "{PMID:Boria 2010:20960466}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92832115A>G" "" "pathogenic (dominant)" "" "0000764270" "11" "90" "1" "93297673" "93297673" "subst" "0" "00006" "RPL5_000003" "g.93297673T>G" "" "{PMID:Boria 2010:20960466}" "" "" "" "Germline" "" "" "0" "" "" "g.92832116T>G" "" "pathogenic (dominant)" "" "0000764271" "1" "90" "1" "93297673" "93297673" "subst" "0" "00006" "RPL5_000003" "g.93297673T>G" "" "{PMID:Boria 2010:20960466}" "" "" "" "Germline" "" "" "0" "" "" "g.92832116T>G" "" "pathogenic (dominant)" "" "0000764272" "0" "90" "1" "93298990" "93298990" "subst" "0" "00006" "RPL5_000012" "g.93298990C>A" "" "{PMID:Boria 2010:20960466}" "" "" "" "De novo" "" "" "0" "" "" "g.92833433C>A" "" "pathogenic (dominant)" "" "0000764273" "0" "90" "1" "93299119" "93299119" "del" "0" "00006" "RPL5_000053" "g.93299119del" "" "{PMID:Boria 2010:20960466}" "" "91delT" "" "De novo" "" "" "0" "" "" "g.92833562del" "" "pathogenic (dominant)" "" "0000764274" "0" "90" "1" "93299200" "93299200" "dup" "0" "00006" "RPL5_000055" "g.93299200dup" "" "{PMID:Boria 2010:20960466}" "" "172_173insA" "" "De novo" "" "" "0" "" "" "g.92833643dup" "" "pathogenic (dominant)" "" "0000764275" "0" "90" "1" "93300337" "93300350" "dup" "0" "00006" "RPL5_000045" "g.93300337_93300350dup" "" "{PMID:Boria 2010:20960466}" "" "191_204ins14 (Ile64LeufsX10)" "" "De novo" "" "" "0" "" "" "g.92834780_92834793dup" "" "pathogenic (dominant)" "" "0000764276" "0" "90" "1" "93300354" "93300354" "subst" "0" "00006" "RPL5_000029" "g.93300354G>T" "" "{PMID:Boria 2010:20960466}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92834797G>T" "" "pathogenic (dominant)" "" "0000764277" "0" "90" "1" "93300429" "93300429" "del" "0" "00006" "RPL5_000058" "g.93300429del" "" "{PMID:Boria 2010:20960466}" "" "283delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92834872del" "" "pathogenic (dominant)" "" "0000764278" "0" "90" "1" "93301876" "93301876" "del" "0" "00006" "RPL5_000036" "g.93301876del" "" "{PMID:Boria 2010:20960466}" "" "454delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92836319del" "" "pathogenic (dominant)" "" "0000764279" "0" "90" "1" "93303020" "93303020" "subst" "0" "00006" "FAM69A_000002" "g.93303020C>T" "" "{PMID:Boria 2010:20960466}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92837463C>T" "" "pathogenic (dominant)" "" "0000764280" "0" "90" "1" "93303020" "93303020" "subst" "0" "00006" "FAM69A_000002" "g.93303020C>T" "" "{PMID:Boria 2010:20960466}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92837463C>T" "" "pathogenic (dominant)" "" "0000764285" "0" "90" "1" "93298990" "93298990" "subst" "0" "00006" "RPL5_000050" "g.93298990C>G" "" "{PMID:Gazda 2008:19061985}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833433C>G" "" "pathogenic (dominant)" "" "0000764286" "0" "90" "1" "93299009" "93299009" "subst" "0" "00006" "RPL5_000014" "g.93299009C>T" "" "{PMID:Gazda 2008:19061985}" "" "" "" "De novo" "" "" "0" "" "" "g.92833452C>T" "" "pathogenic (dominant)" "" "0000764287" "0" "90" "1" "93300374" "93300374" "subst" "0" "00006" "RPL5_000057" "g.93300374C>A" "" "{PMID:Gazda 2008:19061985}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92834817C>A" "" "pathogenic (dominant)" "" "0000764288" "11" "90" "1" "93301840" "93301840" "subst" "0.000109641" "00006" "RPL5_000002" "g.93301840G>A" "" "{PMID:Gazda 2008:19061985}" "" "" "" "Germline" "" "" "0" "" "" "g.92836283G>A" "" "pathogenic (dominant)" "" "0000764289" "0" "90" "1" "93301840" "93301840" "subst" "0.000109641" "00006" "RPL5_000002" "g.93301840G>A" "" "{PMID:Gazda 2008:19061985}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92836283G>A" "" "pathogenic (dominant)" "" "0000764290" "0" "90" "1" "93298989" "93298989" "dup" "0" "00006" "RPL5_000011" "g.93298989dup" "" "{PMID:Gazda 2008:19061985}" "" "46_47 insA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833432dup" "" "pathogenic (dominant)" "" "0000764291" "0" "90" "1" "93299184" "93299187" "del" "0" "00006" "RPL5_000020" "g.93299184_93299187del" "" "{PMID:Gazda 2008:19061985}" "" "156_159 delAGTT" "" "De novo" "" "" "0" "" "" "g.92833627_92833630del" "" "pathogenic (dominant)" "" "0000764292" "0" "90" "1" "93299197" "93299200" "del" "0" "00006" "RPL5_000021" "g.93299197_93299200del" "" "{PMID:Gazda 2008:19061985}" "" "169_172 delAACA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833640_92833643del" "" "pathogenic (dominant)" "" "0000764293" "0" "90" "1" "93299201" "93299201" "del" "0" "00006" "RPL5_000022" "g.93299201del" "" "{PMID:Gazda 2008:19061985}" "" "173 delG" "" "De novo" "" "" "0" "" "" "g.92833644del" "" "pathogenic (dominant)" "" "0000764294" "0" "90" "1" "93299203" "93299204" "del" "0" "00006" "RPL5_000023" "g.93299203_93299204del" "" "{PMID:Gazda 2008:19061985}" "" "173_4 delGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833646_92833647del" "" "pathogenic (dominant)" "" "0000764295" "0" "90" "1" "93299203" "93299204" "del" "0" "00006" "RPL5_000023" "g.93299203_93299204del" "" "{PMID:Gazda 2008:19061985}" "" "173_4 delGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833646_92833647del" "" "pathogenic (dominant)" "" "0000764296" "0" "90" "1" "93299203" "93299204" "del" "0" "00006" "RPL5_000023" "g.93299203_93299204del" "" "{PMID:Gazda 2008:19061985}" "" "173_4 delGA" "" "De novo" "" "" "0" "" "" "g.92833646_92833647del" "" "pathogenic (dominant)" "" "0000764297" "21" "90" "1" "93300381" "93300381" "dup" "0" "00006" "RPL5_000030" "g.93300381dup" "" "{PMID:Gazda 2008:19061985}" "" "235_236 insT" "" "Germline" "" "" "0" "" "" "g.92834824dup" "" "pathogenic (dominant)" "" "0000764298" "0" "90" "1" "93300381" "93300381" "dup" "0" "00006" "RPL5_000030" "g.93300381dup" "" "{PMID:Gazda 2008:19061985}" "" "235_236 insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92834824dup" "" "pathogenic (dominant)" "" "0000764299" "21" "90" "1" "93300381" "93300381" "dup" "0" "00006" "RPL5_000030" "g.93300381dup" "" "{PMID:Gazda 2008:19061985}" "" "235_236 insT" "" "Germline" "" "" "0" "" "" "g.92834824dup" "" "pathogenic (dominant)" "" "0000764300" "0" "90" "1" "93300381" "93300381" "dup" "0" "00006" "RPL5_000030" "g.93300381dup" "" "{PMID:Gazda 2008:19061985}" "" "235_236 insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92834824dup" "" "pathogenic (dominant)" "" "0000764301" "21" "90" "1" "93301766" "93301769" "dup" "0" "00006" "RPL5_000062" "g.93301766_93301769dup" "" "{PMID:Gazda 2008:19061985}" "" "348_351 insTGGA" "" "Germline" "" "" "0" "" "" "g.92836209_92836212dup" "" "pathogenic (dominant)" "" "0000764302" "21" "90" "1" "93301920" "93301924" "delins" "0" "00006" "RPL5_000039" "g.93301920_93301924delinsN[39]" "" "{PMID:Gazda 2008:19061985}" "" "498_502 delTGTGG and 39bp ins" "" "Germline" "" "" "0" "" "" "g.92836363_92836367delinsN[39]" "" "pathogenic (dominant)" "" "0000764303" "0" "90" "1" "93301766" "93301769" "dup" "0" "00006" "RPL5_000062" "g.93301766_93301769dup" "" "{PMID:Gazda 2008:19061985}" "" "348_351 insTGGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92836209_92836212dup" "" "pathogenic (dominant)" "" "0000764304" "1" "90" "1" "93301920" "93301924" "delins" "0" "00006" "RPL5_000039" "g.93301920_93301924delinsN[39]" "" "{PMID:Gazda 2008:19061985}" "" "498_502 delTGTGG and 39bp ins" "" "Germline" "" "" "0" "" "" "g.92836363_92836367delinsN[39]" "" "pathogenic (dominant)" "" "0000764305" "1" "90" "1" "93301920" "93301924" "delins" "0" "00006" "RPL5_000039" "g.93301920_93301924delinsN[39]" "" "{PMID:Gazda 2008:19061985}" "" "498_502 delTGTGG and 39bp ins" "" "Germline" "" "" "0" "" "" "g.92836363_92836367delinsN[39]" "" "pathogenic (dominant)" "" "0000764306" "11" "90" "1" "93301920" "93301924" "delins" "0" "00006" "RPL5_000039" "g.93301920_93301924delinsN[39]" "" "{PMID:Gazda 2008:19061985}" "" "498_502 delTGTGG and 39bp ins" "" "Germline" "" "" "0" "" "" "g.92836363_92836367delinsN[39]" "" "pathogenic (dominant)" "" "0000764307" "0" "90" "1" "93303059" "93303059" "dup" "0" "00006" "RPL5_000065" "g.93303059dup" "" "{PMID:Gazda 2008:19061985}" "" "573_574 insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92837502dup" "" "pathogenic (dominant)" "" "0000764308" "0" "90" "1" "93299017" "93299017" "subst" "0" "00006" "RPL5_000017" "g.93299017T>G" "" "{PMID:Gazda 2008:19061985}" "" "IVS2 +2t>g" "" "De novo" "" "" "0" "" "" "g.92833460T>G" "" "pathogenic (dominant)" "" "0000764309" "0" "90" "1" "93299218" "93299218" "subst" "0" "00006" "RPL5_000025" "g.93299218G>T" "" "{PMID:Gazda 2008:19061985}" "" "IVS3 +1g>t" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833661G>T" "" "pathogenic (dominant)" "" "0000764481" "0" "90" "1" "93299101" "93299101" "subst" "0" "00006" "RPL5_000051" "g.93299101G>A" "" "{PMID:Cmejla 2009:19191325}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833544G>A" "" "pathogenic (dominant)" "" "0000764482" "21" "90" "1" "93299101" "93299101" "subst" "0" "00006" "RPL5_000051" "g.93299101G>A" "" "{PMID:Cmejla 2009:19191325}" "" "" "" "Germline" "" "" "0" "" "" "g.92833544G>A" "" "pathogenic (dominant)" "" "0000764483" "0" "90" "1" "93299173" "93299173" "dup" "0" "00006" "RPL5_000054" "g.93299173dup" "" "{PMID:Cmejla 2009:19191325}" "" "145dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833616dup" "" "pathogenic (dominant)" "" "0000764484" "0" "90" "1" "93299197" "93299200" "del" "0" "00006" "RPL5_000021" "g.93299197_93299200del" "" "{PMID:Cmejla 2009:19191325}" "" "169_172delAACA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833640_92833643del" "" "pathogenic (dominant)" "" "0000764485" "0" "90" "1" "93299203" "93299204" "del" "0" "00006" "RPL5_000023" "g.93299203_93299204del" "" "{PMID:Cmejla 2009:19191325}" "" "175_176delGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833646_92833647del" "" "pathogenic (dominant)" "" "0000764486" "0" "90" "1" "93303050" "93303050" "del" "0" "00006" "RPL5_000064" "g.93303050del" "" "{PMID:Cmejla 2009:19191325}" "" "565delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92837493del" "" "pathogenic (dominant)" "" "0000764487" "0" "90" "1" "93307382" "93307382" "subst" "0" "00006" "RPL5_000067" "g.93307382C>T" "" "{PMID:Cmejla 2009:19191325}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92841825C>T" "" "pathogenic (dominant)" "" "0000764488" "21" "90" "1" "93307382" "93307382" "subst" "0" "00006" "RPL5_000067" "g.93307382C>T" "" "{PMID:Cmejla 2009:19191325}" "" "" "" "Germline" "" "" "0" "" "" "g.92841825C>T" "" "pathogenic (dominant)" "" "0000764491" "0" "90" "1" "93297674" "93297674" "subst" "0" "00006" "RPL5_000047" "g.93297674G>C" "" "{PMID:Quarello 2010:19773262}" "" "" "" "Unknown" "" "" "0" "" "" "g.92832117G>C" "" "pathogenic (dominant)" "" "0000764492" "0" "90" "1" "93303163" "93303165" "delins" "0" "00006" "RPL5_000046" "g.93303163_93303165delinsAAG" "" "{PMID:Quarello 2010:19773262}" "" "[678C>A;680T>G]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764493" "0" "90" "1" "93299162" "93299166" "del" "0" "00006" "RPL5_000044" "g.93299162_93299166del" "" "{PMID:Quarello 2010:19773262}" "" "134_138delACACA" "" "De novo" "" "" "0" "" "" "g.92833605_92833609del" "" "pathogenic (dominant)" "" "0000764494" "0" "90" "1" "93299197" "93299200" "del" "0" "00006" "RPL5_000021" "g.93299197_93299200del" "" "{PMID:Quarello 2010:19773262}" "" "169_172delAACA" "" "De novo" "" "" "0" "" "" "g.92833640_92833643del" "" "pathogenic (dominant)" "" "0000764495" "0" "90" "1" "93299197" "93299200" "del" "0" "00006" "RPL5_000021" "g.93299197_93299200del" "" "{PMID:Quarello 2010:19773262}" "" "169_172delAACA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833640_92833643del" "" "pathogenic (dominant)" "" "0000764496" "0" "90" "1" "93299211" "93299212" "del" "0" "00006" "RPL5_000056" "g.93299211_93299212del" "" "{PMID:Quarello 2010:19773262}" "" "183_184delTT" "" "De novo" "" "" "0" "" "" "g.92833654_92833655del" "" "pathogenic (dominant)" "" "0000764497" "0" "90" "1" "93301758" "93301758" "del" "0" "00006" "RPL5_000060" "g.93301758del" "" "{PMID:Quarello 2010:19773262}" "" "336delG" "" "De novo" "" "" "0" "" "" "g.92836201del" "" "pathogenic (dominant)" "" "0000764498" "0" "90" "1" "93298981" "93298981" "dup" "0" "00006" "RPL5_000049" "g.93298981dup" "" "{PMID:Quarello 2010:19773262}" "" "39_40insT" "" "Unknown" "" "" "0" "" "" "g.92833424dup" "" "pathogenic (dominant)" "" "0000764499" "0" "90" "1" "93303177" "93303177" "dup" "0" "00006" "RPL5_000066" "g.93303177dup" "" "{PMID:Quarello 2010:19773262}" "" "692_693insT" "" "De novo" "" "" "0" "" "" "g.92837620dup" "" "pathogenic (dominant)" "" "0000764500" "21" "90" "1" "93297677" "93297677" "subst" "0.00246619" "00006" "FAM69A_000009" "g.93297677G>C" "" "{PMID:Quarello 2010:19773262}" "" "" "" "Germline" "" "" "0" "" "" "g.92832120G>C" "" "pathogenic (dominant)" "" "0000764501" "0" "90" "1" "93299218" "93299218" "subst" "0" "00006" "RPL5_000024" "g.93299218G>A" "" "{PMID:Quarello 2010:19773262}" "" "" "" "Unknown" "" "" "0" "" "" "g.92833661G>A" "" "pathogenic (dominant)" "" "0000764502" "0" "90" "1" "93300475" "93300475" "subst" "0" "00006" "RPL5_000059" "g.93300475G>T" "" "{PMID:Quarello 2010:19773262}" "" "" "" "Unknown" "" "" "0" "" "" "g.92834918G>T" "" "pathogenic (dominant)" "" "0000764719" "0" "70" "1" "93301758" "93301758" "delins" "0" "00006" "RPL5_000061" "g.93301758delinsCTA" "" "{PMID:Tsangaris 2011:21659346}" "" "336delGinsCTA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92836201delinsCTA" "" "likely pathogenic (recessive)" "" "0000764720" "0" "70" "1" "93299111" "93299114" "delins" "0" "00006" "RPL5_000052" "g.93299111_93299114delinsTGG" "" "{PMID:Tsangaris 2011:21659346}" "" "83_86delCTGAinsTGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833554_92833557delinsTGG" "" "likely pathogenic (recessive)" "" "0000764721" "0" "70" "1" "93299203" "93299204" "del" "0" "00006" "RPL5_000023" "g.93299203_93299204del" "" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833646_92833647del" "" "likely pathogenic (recessive)" "" "0000764745" "0" "90" "1" "93301895" "93301896" "del" "0" "00006" "RPL5_000063" "g.93301895_93301896del" "" "{PMID:Konno 2010:20378560}" "" "473_474delAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92836338_92836339del" "" "pathogenic (dominant)" "" "0000764746" "0" "90" "1" "93297674" "93297674" "subst" "0" "00006" "RPL5_000048" "g.93297674G>T" "" "{PMID:Konno 2010:20378560}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92832117G>T" "" "pathogenic (dominant)" "" "0000764747" "0" "90" "1" "93297674" "93297674" "subst" "0" "00006" "RPL5_000005" "g.93297674G>A" "" "{PMID:Konno 2010:20378560}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92832117G>A" "" "pathogenic (dominant)" "" "0000764748" "0" "90" "1" "93298981" "93298981" "dup" "0" "00006" "RPL5_000049" "g.93298981dup" "" "{PMID:Konno 2010:20378560}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92833424dup" "" "pathogenic (dominant)" "" "0000920306" "0" "90" "1" "93298990" "93298990" "subst" "0" "00006" "RPL5_000012" "g.93298990C>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.92833433C>A" "" "pathogenic" "ACMG" "0000974152" "0" "50" "1" "93300390" "93300390" "subst" "0" "01804" "FAM69A_000013" "g.93300390G>A" "" "" "" "RPL5(NM_000969.5):c.244G>A (p.(Glu82Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974153" "0" "30" "1" "93303114" "93303114" "subst" "0.00477075" "01804" "FAM69A_000014" "g.93303114A>G" "" "" "" "RPL5(NM_000969.5):c.629A>G (p.(Tyr210Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991483" "0" "50" "1" "93301840" "93301840" "subst" "0.000109641" "01804" "RPL5_000002" "g.93301840G>A" "" "" "" "RPL5(NM_000969.3):c.418G>A (p.(Gly140Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991484" "0" "30" "1" "93301939" "93301939" "subst" "3.65551E-5" "01804" "FAM69A_000015" "g.93301939A>G" "" "" "" "RPL5(NM_000969.3):c.517A>G (p.(Ile173Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013353" "0" "90" "1" "93300404" "93300404" "subst" "0" "02325" "FAM69A_000016" "g.93300404T>A" "" "" "" "RPL5(NM_000969.5):c.258T>A (p.Y86*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001022113" "0" "30" "1" "93301755" "93301755" "subst" "4.06438E-6" "04796" "FAM69A_000011" "g.93301755T>C" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.92836198T>C" "" "likely benign" "" "0001032231" "0" "10" "1" "93299193" "93299193" "subst" "0.00556445" "01804" "FAM69A_000017" "g.93299193G>A" "" "" "" "RPL5(NM_000969.5):c.165G>A (p.(Val55=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032232" "0" "50" "1" "93300465" "93300465" "subst" "4.24196E-6" "01804" "FAM69A_000018" "g.93300465C>T" "" "" "" "RPL5(NM_000969.5):c.319C>T (p.(Arg107Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032233" "0" "50" "1" "93301813" "93301813" "subst" "0" "01804" "FAM69A_000019" "g.93301813A>G" "" "" "" "RPL5(NM_000969.5):c.391A>G (p.(Asn131Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057722" "0" "90" "1" "93301367" "93301367" "subst" "0" "03779" "RPL5_000068" "g.93301367A>G" "" "" "" "" "" "Unknown" "" "rs953679013" "0" "" "" "" "" "pathogenic" "" "0001063102" "0" "50" "1" "93303065" "93303065" "subst" "0" "02325" "FAM69A_000020" "g.93303065G>A" "" "" "" "" "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 RPL5 ## Count = 152 "{{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}}" "0000345721" "00018078" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Ser)" "" "0000347719" "00018078" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000443435" "00018078" "90" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "" "0000443442" "00018078" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "" "0000443451" "00018078" "90" "169" "0" "172" "0" "c.169_172del" "r.(?)" "p.(Asn57Glufs*12)" "" "0000443461" "00018078" "90" "175" "0" "176" "0" "c.175_176del" "r.(?)" "p.(Asp59Tyrfs*53)" "" "0000443464" "00018078" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" "0000443471" "00018078" "90" "4" "-1" "4" "-1" "c.4-1G>A" "r.spl" "p.?" "" "0000443482" "00018078" "90" "175" "0" "176" "0" "c.175_176del" "r.(?)" "p.(Asp59Tyrfs*53)" "" "0000443501" "00018078" "90" "141" "0" "141" "0" "c.141dup" "r.(?)" "p.(Lys48Glnfs*65)" "" "0000443504" "00018078" "90" "141" "0" "141" "0" "c.141dup" "r.(?)" "p.(Lys48Glnfs*65)" "" "0000443505" "00018078" "90" "48" "0" "48" "0" "c.48C>A" "r.(?)" "p.(Tyr16*)" "" "0000443509" "00018078" "90" "189" "1" "189" "1" "c.189+1G>A" "r.spl" "p.?" "" "0000443513" "00018078" "90" "479" "0" "480" "0" "c.479_480del" "r.(?)" "p.(Phe160Trpfs*24)" "" "0000443514" "00018078" "90" "169" "0" "172" "0" "c.169_172del" "r.(?)" "p.(Asn57Glufs*12)" "" "0000443517" "00018078" "90" "73" "2" "73" "2" "c.73+2T>G" "r.spl" "p.?" "" "0000443541" "00018078" "90" "326" "0" "342" "0" "c.326_342del" "r.(?)" "p.(Leu109HisfsTer6)" "" "0000443544" "00018078" "90" "189" "1" "189" "1" "c.189+1G>T" "r.spl" "p.?" "" "0000443546" "00018078" "90" "531" "0" "562" "0" "c.531_562del" "r.(?)" "p.(Lys178Glyfs*3)" "" "0000443549" "00018078" "90" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Gln222*)" "" "0000443552" "00018078" "90" "47" "0" "47" "0" "c.47dup" "r.(?)" "p.(Tyr16*)" "" "0000443553" "00018078" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "" "0000443554" "00018078" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "" "0000443556" "00018078" "90" "716" "0" "724" "0" "c.716_724dup" "r.(?)" "p.(Met239_Lys241dup)" "" "0000443557" "00018078" "90" "48" "0" "48" "0" "c.48C>A" "r.(?)" "p.(Tyr16*)" "" "0000443562" "00018078" "90" "454" "0" "454" "0" "c.454del" "r.(?)" "p.(Arg152Glufs*12)" "" "0000443564" "00018078" "90" "48" "0" "48" "0" "c.48C>A" "r.(?)" "p.(Tyr16*)" "" "0000443570" "00018078" "90" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Glu70*)" "" "0000443571" "00018078" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "" "0000443572" "00018078" "90" "341" "0" "341" "0" "c.341del" "r.(?)" "p.(Gly114Alafs*12)" "" "0000443581" "00018078" "90" "235" "0" "235" "0" "c.235dup" "r.(?)" "p.(Tyr79Leufs*34)" "" "0000443582" "00018078" "90" "235" "0" "235" "0" "c.235dup" "r.(?)" "p.(Tyr79Leufs*34)" "" "0000443595" "00018078" "90" "190" "-12" "191" "0" "c.190-12_191del" "r.spl" "p.?" "" "0000443597" "00018078" "90" "718" "0" "718" "0" "c.718T>G" "r.(?)" "p.(Tyr240Asp)" "" "0000443599" "00018078" "90" "169" "0" "172" "0" "c.169_172del" "r.(?)" "p.(Asn57Glufs*12)" "" "0000443605" "00018078" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" "0000443635" "00018078" "90" "169" "0" "172" "0" "c.169_172del" "r.(?)" "p.(Asn57Glufs*12)" "" "0000443639" "00018078" "90" "3" "1" "3" "1" "c.3+1G>T" "r.spl" "p.?" "" "0000443641" "00018078" "90" "3" "1" "3" "1" "c.3+1G>T" "r.spl" "p.?" "" "0000443646" "00018078" "90" "189" "2" "189" "2" "c.189+2dup" "r.spl" "p.?" "" "0000443663" "00018078" "90" "474" "0" "474" "0" "c.474dup" "r.(?)" "p.(Val159Serfs*26)" "" "0000443668" "00018078" "90" "705" "2" "705" "2" "c.705+2T>C" "r.spl" "p.?" "" "0000443669" "00018078" "90" "435" "0" "435" "0" "c.435T>A" "r.(?)" "p.(Tyr145*)" "" "0000443676" "00018078" "90" "47" "0" "47" "0" "c.47dup" "r.(?)" "p.(Tyr16*)" "" "0000443680" "00018078" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "" "0000443683" "00018078" "90" "175" "0" "176" "0" "c.175_176del" "r.(?)" "p.(Asp59Tyrfs*53)" "" "0000443694" "00018078" "90" "40" "0" "41" "0" "c.40_41del" "r.(?)" "p.(Lys14Glufs*7)" "" "0000443702" "00018078" "90" "637" "0" "637" "0" "c.637G>T" "r.(?)" "p.(Glu213*)" "" "0000443705" "00018078" "90" "73" "0" "73" "0" "c.73G>T" "r.(?)" "p.(Glu25*)" "" "0000443709" "00018078" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" "0000443710" "00018078" "90" "89" "0" "90" "0" "c.89_90del" "r.(?)" "p.(Tyr30Leufs*11)" "" "0000443711" "00018078" "90" "324" "1" "324" "1" "c.324+1G>A" "r.spl" "p.?" "" "0000443716" "00018078" "90" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Glu25Lys)" "" "0000443725" "00018078" "90" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Gln17*)" "" "0000443729" "00018078" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "" "0000443755" "00018078" "90" "498" "0" "502" "0" "c.498_502delinsN[39]" "r.?" "p.?" "" "0000443762" "00018078" "90" "156" "0" "159" "0" "c.156_159del" "r.(?)" "p.(Arg54*)" "" "0000443770" "00018078" "90" "344" "0" "347" "0" "c.344_347del" "r.(?)" "p.(Met115Thrfs*10)" "" "0000443772" "00018078" "90" "498" "0" "502" "0" "c.498_502delinsN[39]" "r.?" "p.?" "" "0000443781" "00018078" "90" "173" "0" "173" "0" "c.173del" "r.(?)" "p.(Arg58Lysfs*12)" "" "0000443805" "00018078" "90" "498" "0" "502" "0" "c.498_502delinsN[39]" "r.?" "p.?" "" "0000443835" "00018078" "70" "4" "-419" "4" "-305" "c.(?_4-419)_(4-305_?)del" "r.?" "p.?" "" "0000443836" "00018078" "70" "4" "-419" "4" "-305" "c.(?_4-419)_(4-305_?)del" "r.?" "p.?" "" "0000443837" "00018078" "70" "4" "-2" "73" "2" "c.(?_4-2)_(73+2_?)del" "r.?" "p.?" "" "0000443838" "00018078" "70" "190" "-2" "324" "2" "c.(?_190-2)_(324+2_?)del" "r.?" "p.?" "" "0000443839" "00018078" "70" "706" "-2" "794" "2" "c.(?_706-2)_(794+2_?)del" "r.?" "p.?" "" "0000455204" "00018078" "90" "143" "0" "146" "0" "c.143_146del" "r.(?)" "p.(Lys48Thrfs*3)" "" "0000508595" "00018078" "30" "3" "3" "3" "3" "c.3+3G>C" "r.spl?" "p.?" "" "0000508596" "00018078" "30" "794" "19" "794" "19" "c.794+19dup" "r.(=)" "p.(=)" "" "0000606006" "00018078" "30" "333" "0" "333" "0" "c.333T>C" "r.(?)" "p.(Asn111=)" "" "0000673657" "00018078" "90" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Ile135HisfsTer2)" "" "0000673948" "00018078" "70" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Ala32Val)" "" "0000675955" "00018078" "30" "3" "3" "3" "3" "c.3+3G>C" "r.spl?" "p.?" "" "0000717733" "00018078" "30" "3" "3" "3" "3" "c.3+3G>C" "r.spl?" "p.?" "" "0000717734" "00018078" "50" "325" "-4" "325" "-4" "c.325-4A>G" "r.spl?" "p.?" "" "0000764213" "00018078" "90" "134" "0" "138" "0" "c.134_138del" "r.(?)" "p.(Asn45Thrfs*66)" "" "0000764269" "00018078" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000764270" "00018078" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "1" "0000764271" "00018078" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "1" "0000764272" "00018078" "90" "48" "0" "48" "0" "c.48C>A" "r.(?)" "p.(Tyr16Ter)" "2" "0000764273" "00018078" "90" "91" "0" "91" "0" "c.91del" "r.(?)" "p.(Tyr31MetfsTer7)" "3" "0000764274" "00018078" "90" "172" "0" "172" "0" "c.172dup" "r.(?)" "p.(Arg58LysfsTer55)" "3" "0000764275" "00018078" "90" "191" "0" "204" "0" "c.191_204dup" "r.(?)" "p.(Ile69LeufsTer6)" "4" "0000764276" "00018078" "90" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Glu70Ter)" "4" "0000764277" "00018078" "90" "283" "0" "283" "0" "c.283del" "r.(?)" "p.(Tyr95MetfsTer31)" "4" "0000764278" "00018078" "90" "454" "0" "454" "0" "c.454del" "r.(?)" "p.(Arg152GlufsTer12)" "5" "0000764279" "00018078" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Ter)" "6" "0000764280" "00018078" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Ter)" "6" "0000764285" "00018078" "90" "48" "0" "48" "0" "c.48C>G" "r.(?)" "p.(Tyr16Ter)" "2" "0000764286" "00018078" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000764287" "00018078" "90" "228" "0" "228" "0" "c.228C>A" "r.(?)" "p.(Cys76Ter)" "4" "0000764288" "00018078" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Ser)" "5" "0000764289" "00018078" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Ser)" "5" "0000764290" "00018078" "90" "47" "0" "47" "0" "c.47dup" "r.(?)" "p.(Tyr16Ter)" "2" "0000764291" "00018078" "90" "156" "0" "159" "0" "c.156_159del" "r.(?)" "p.(Arg54Ter)" "3" "0000764292" "00018078" "90" "169" "0" "172" "0" "c.169_172del" "r.(?)" "p.(Asn57GlufsTer12)" "3" "0000764293" "00018078" "90" "173" "0" "173" "0" "c.173del" "r.(?)" "p.(Arg58LysfsTer12)" "3" "0000764294" "00018078" "90" "175" "0" "176" "0" "c.175_176del" "r.(?)" "p.(Asp59TyrfsTer53)" "3" "0000764295" "00018078" "90" "175" "0" "176" "0" "c.175_176del" "r.(?)" "p.(Asp59TyrfsTer53)" "3" "0000764296" "00018078" "90" "175" "0" "176" "0" "c.175_176del" "r.(?)" "p.(Asp59TyrfsTer53)" "3" "0000764297" "00018078" "90" "235" "0" "235" "0" "c.235dup" "r.(?)" "p.(Tyr79LeufsTer34)" "4" "0000764298" "00018078" "90" "235" "0" "235" "0" "c.235dup" "r.(?)" "p.(Tyr79LeufsTer34)" "4" "0000764299" "00018078" "90" "235" "0" "235" "0" "c.235dup" "r.(?)" "p.(Tyr79LeufsTer34)" "4" "0000764300" "00018078" "90" "235" "0" "235" "0" "c.235dup" "r.(?)" "p.(Tyr79LeufsTer34)" "4" "0000764301" "00018078" "90" "344" "0" "347" "0" "c.344_347dup" "r.(?)" "p.(Lys117GlyfsTer5)" "5" "0000764302" "00018078" "90" "498" "0" "502" "0" "c.498_502delinsN[39]" "r.(?)" "p.?" "5" "0000764303" "00018078" "90" "344" "0" "347" "0" "c.344_347dup" "r.(?)" "p.(Lys117GlyfsTer5)" "5" "0000764304" "00018078" "90" "498" "0" "502" "0" "c.498_502delinsN[39]" "r.(?)" "p.?" "5" "0000764305" "00018078" "90" "498" "0" "502" "0" "c.498_502delinsN[39]" "r.(?)" "p.?" "5" "0000764306" "00018078" "90" "498" "0" "502" "0" "c.498_502delinsN[39]" "r.(?)" "p.?" "5" "0000764307" "00018078" "90" "574" "0" "574" "0" "c.574dup" "r.(?)" "p.(Ala192GlyfsTer25)" "6" "0000764308" "00018078" "90" "73" "2" "73" "2" "c.73+2T>G" "r.spl" "p.?" "2i" "0000764309" "00018078" "90" "189" "1" "189" "1" "c.189+1G>T" "r.spl" "p.?" "3i" "0000764481" "00018078" "90" "74" "-1" "74" "-1" "c.74-1G>A" "r.spl" "p.?" "2i" "0000764482" "00018078" "90" "74" "-1" "74" "-1" "c.74-1G>A" "r.spl" "p.(Glu25Glyfs*2)" "2i" "0000764483" "00018078" "90" "145" "0" "145" "0" "c.145dup" "r.(?)" "p.(Tyr49LeufsTer64)" "3" "0000764484" "00018078" "90" "169" "0" "172" "0" "c.169_172del" "r.(?)" "p.(Asn57GlufsTer12)" "3" "0000764485" "00018078" "90" "175" "0" "176" "0" "c.175_176del" "r.(?)" "p.(Asp59TyrfsTer53)" "3" "0000764486" "00018078" "90" "565" "0" "565" "0" "c.565del" "r.(?)" "p.(Glu189AsnfsTer23)" "6" "0000764487" "00018078" "90" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Ala285Val)" "8" "0000764488" "00018078" "90" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Ala285Val)" "8" "0000764491" "00018078" "90" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "1" "0000764492" "00018078" "90" "678" "0" "680" "0" "c.678_680delinsAAG" "r.(?)" "p.(Tyr226*)" "6" "0000764493" "00018078" "90" "134" "0" "138" "0" "c.134_138del" "r.(?)" "p.(Asn45ThrfsTer66)" "3" "0000764494" "00018078" "90" "169" "0" "172" "0" "c.169_172del" "r.(?)" "p.(Asn57GlufsTer12)" "3" "0000764495" "00018078" "90" "169" "0" "172" "0" "c.169_172del" "r.(?)" "p.(Asn57GlufsTer12)" "3" "0000764496" "00018078" "90" "183" "0" "184" "0" "c.183_184del" "r.(?)" "p.(Ile61MetfsTer51)" "3" "0000764497" "00018078" "90" "336" "0" "336" "0" "c.336del" "r.(?)" "p.(Arg112SerfsTer14)" "5" "0000764498" "00018078" "90" "39" "0" "39" "0" "c.39dup" "r.(?)" "p.(Lys14Ter)" "2" "0000764499" "00018078" "90" "692" "0" "692" "0" "c.692dup" "r.(?)" "p.(Thr232AsnfsTer10)" "6" "0000764500" "00018078" "90" "3" "3" "3" "3" "c.3+3G>C" "r.spl" "p.?" "1i" "0000764501" "00018078" "90" "189" "1" "189" "1" "c.189+1G>A" "r.74_189del" "p.?" "3i" "0000764502" "00018078" "90" "324" "5" "324" "5" "c.324+5G>T" "r.190_324del" "p.Ile64_Arg108del" "4i" "0000764719" "00018078" "70" "336" "0" "336" "0" "c.336delinsCTA" "r.(?)" "p.(Arg112SerfsTer15)" "" "0000764720" "00018078" "70" "83" "0" "86" "0" "c.83_86delinsTGG" "r.(?)" "p.(Thr28Metfs*10)" "" "0000764721" "00018078" "70" "175" "0" "176" "0" "c.175_176delGA" "r.(?)" "p.(Asp59TyrfsTer53)" "" "0000764745" "00018078" "90" "473" "0" "474" "0" "c.473_474del" "r.(?)" "p.(Lys158SerfsTer26)" "5" "0000764746" "00018078" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "1" "0000764747" "00018078" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "1" "0000764748" "00018078" "90" "39" "0" "39" "0" "c.39dup" "r.(?)" "p.(Lys14Ter)" "2" "0000920306" "00018078" "90" "48" "0" "48" "0" "c.48C>A" "r.(?)" "p.(Tyr16Ter)" "2" "0000974152" "00018078" "50" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Glu82Lys)" "" "0000974153" "00018078" "30" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(Tyr210Cys)" "" "0000991483" "00018078" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Ser)" "" "0000991484" "00018078" "30" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Ile173Val)" "" "0001013353" "00018078" "90" "258" "0" "258" "0" "c.258T>A" "r.(?)" "p.(Tyr86*)" "" "0001022113" "00018078" "30" "333" "0" "333" "0" "c.333T>C" "r.333T>C" "p.Asn111=" "5" "0001032231" "00018078" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(=)" "" "0001032232" "00018078" "50" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Cys)" "" "0001032233" "00018078" "50" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Asn131Asp)" "" "0001057722" "00018078" "90" "325" "-380" "325" "-380" "c.325-380A>G" "r.(?)" "p.(?)" "" "0001063102" "00018078" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Val194Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 134 "{{screeningid}}" "{{variantid}}" "0000211805" "0000443435" "0000211812" "0000443442" "0000211821" "0000443451" "0000211831" "0000443461" "0000211834" "0000443464" "0000211841" "0000443471" "0000211852" "0000443482" "0000211869" "0000443501" "0000211871" "0000443504" "0000211872" "0000443505" "0000211876" "0000443509" "0000211880" "0000443513" "0000211881" "0000443514" "0000211884" "0000443517" "0000211907" "0000443541" "0000211910" "0000443544" "0000211912" "0000443546" "0000211915" "0000443549" "0000211918" "0000443552" "0000211919" "0000443553" "0000211920" "0000443554" "0000211922" "0000443556" "0000211923" "0000443557" "0000211928" "0000443562" "0000211930" "0000443564" "0000211936" "0000443570" "0000211937" "0000443571" "0000211938" "0000443572" "0000211946" "0000443581" "0000211947" "0000443582" "0000211960" "0000443595" "0000211962" "0000443597" "0000211964" "0000443599" "0000211970" "0000443605" "0000211997" "0000443635" "0000211999" "0000443639" "0000212001" "0000443641" "0000212005" "0000443646" "0000212022" "0000443663" "0000212027" "0000443668" "0000212028" "0000443669" "0000212035" "0000443676" "0000212039" "0000443680" "0000212042" "0000443683" "0000212052" "0000443694" "0000212060" "0000443702" "0000212063" "0000443705" "0000212067" "0000443709" "0000212068" "0000443710" "0000212069" "0000443711" "0000212074" "0000443716" "0000212083" "0000443725" "0000212086" "0000443729" "0000212112" "0000443755" "0000212119" "0000443762" "0000212127" "0000443770" "0000212129" "0000443772" "0000212138" "0000443781" "0000212162" "0000443805" "0000212192" "0000443835" "0000212193" "0000443836" "0000212194" "0000443837" "0000212195" "0000443838" "0000212196" "0000443839" "0000220251" "0000455204" "0000307092" "0000673657" "0000307329" "0000673948" "0000363515" "0000764213" "0000363570" "0000764269" "0000363571" "0000764270" "0000363572" "0000764271" "0000363573" "0000764272" "0000363574" "0000764273" "0000363575" "0000764274" "0000363576" "0000764275" "0000363577" "0000764276" "0000363578" "0000764277" "0000363579" "0000764278" "0000363580" "0000764279" "0000363581" "0000764280" "0000363586" "0000764285" "0000363587" "0000764286" "0000363588" "0000764287" "0000363589" "0000764288" "0000363590" "0000764289" "0000363591" "0000764290" "0000363592" "0000764291" "0000363593" "0000764292" "0000363594" "0000764293" "0000363595" "0000764294" "0000363596" "0000764295" "0000363597" "0000764296" "0000363598" "0000764297" "0000363599" "0000764298" "0000363600" "0000764299" "0000363601" "0000764300" "0000363602" "0000764301" "0000363603" "0000764302" "0000363604" "0000764303" "0000363605" "0000764304" "0000363606" "0000764305" "0000363607" "0000764306" "0000363608" "0000764307" "0000363609" "0000764308" "0000363610" "0000764309" "0000363782" "0000764481" "0000363783" "0000764482" "0000363784" "0000764483" "0000363785" "0000764484" "0000363786" "0000764485" "0000363787" "0000764486" "0000363788" "0000764487" "0000363789" "0000764488" "0000363792" "0000764491" "0000363793" "0000764492" "0000363794" "0000764493" "0000363795" "0000764494" "0000363796" "0000764495" "0000363797" "0000764496" "0000363798" "0000764497" "0000363799" "0000764498" "0000363800" "0000764499" "0000363801" "0000764500" "0000363802" "0000764501" "0000363803" "0000764502" "0000364009" "0000764719" "0000364010" "0000764720" "0000364011" "0000764721" "0000364035" "0000764745" "0000364036" "0000764746" "0000364037" "0000764747" "0000364038" "0000764748" "0000434553" "0000920306" "0000462586" "0001022113"