### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPL35A) # 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}}" "RPL35A" "ribosomal protein L35a" "3" "q29" "unknown" "LRG_1129" "UD_132085446622" "" "https://www.LOVD.nl/RPL35A" "" "1" "10345" "6165" "180468" "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/RPL35A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-20 17:25:52" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018134" "RPL35A" "ribosomal protein L35a" "001" "NM_000996.2" "" "NP_000987.2" "" "" "" "-73" "411" "333" "197677052" "197682722" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03147" "DBA5" "anemia, Diamond-Blackfan, type 5 (DBA-5)" "AD" "612528" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RPL35A" "03147" "RPL35A" "05484" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00210833" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA107" "00210919" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA193" "00210936" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA210" "00210954" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA228" "00210955" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA229" "00210972" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA246" "00211028" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA302" "00211029" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA303" "00211031" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA305" "00211039" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA313" "00211085" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA359" "00211110" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel17" "00211111" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel18" "00211112" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel19" "00211113" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel20" "00362277" "" "" "" "1" "" "00006" "{PMID:Farrar 2008:18535205}" "" "M" "" "United States" "" "0" "" "" "" "PatD9" "00362278" "" "" "" "1" "" "00006" "{PMID:Farrar 2008:18535205}" "" "M" "" "United States" "" "0" "" "" "" "PatE2" "00362279" "" "" "" "1" "" "00006" "{PMID:Farrar 2008:18535205}" "family" "M" "" "United States" "" "0" "" "" "" "Pat019" "00362280" "" "" "" "1" "" "00006" "{PMID:Farrar 2008:18535205}" "" "M" "" "United States" "" "0" "" "" "" "Del1" "00362281" "" "" "" "1" "" "00006" "{PMID:Farrar 2008:18535205}" "" "F" "" "United States" "" "0" "" "" "" "Del2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00210833" "05484" "00210919" "05484" "00210936" "05484" "00210954" "05484" "00210955" "05484" "00210972" "05484" "00211028" "05484" "00211029" "05484" "00211031" "05484" "00211039" "05484" "00211085" "05484" "00211110" "05484" "00211111" "05484" "00211112" "05484" "00211113" "05484" "00362277" "05484" "00362278" "05484" "00362279" "05484" "00362280" "05484" "00362281" "05484" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03147, 05484 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000159395" "05484" "00210833" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159481" "05484" "00210919" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159498" "05484" "00210936" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159516" "05484" "00210954" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159517" "05484" "00210955" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159534" "05484" "00210972" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159590" "05484" "00211028" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159591" "05484" "00211029" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159593" "05484" "00211031" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159601" "05484" "00211039" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159647" "05484" "00211085" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000257694" "05484" "00362277" "00006" "Isolated (sporadic)" "" "see paper; ..., no malformation, responsive to steroid therapy" "00y14m" "" "" "" "" "" "" "DBA5" "Diamond-Blackfan anemia" "0000257695" "05484" "00362278" "00006" "Isolated (sporadic)" "" "see paper; ..., bilateral duplicated ureters, bilateral duplicated 11th ribs; unresponsive to steroid therapy" "00y02m" "" "" "" "" "" "" "DBA5" "Diamond-Blackfan anemia" "0000257696" "05484" "00362279" "00006" "Familial, autosomal dominant" "" "see paper; ..., hypospadias, short stature; responsive to steroid therapy" "00y04m" "" "" "" "" "" "" "DBA5" "Diamond-Blackfan anemia" "0000257697" "05484" "00362280" "00006" "Isolated (sporadic)" "" "see paper; ..., hypertelorism, ventricular septal defect, hypospadias, low-set ears, developmental delay; responsive to steroid therapy" "00y02m" "" "" "" "" "" "" "DBA5" "Diamond-Blackfan anemia" "0000257698" "05484" "00362281" "00006" "Isolated (sporadic)" "" "see paper; ..., inguinal hernia, pectus excavatum; responsive to steroid therapy" "00y02m" "" "" "" "" "" "" "DBA5" "Diamond-Blackfan anemia" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211911" "00210833" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211997" "00210919" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212014" "00210936" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000212032" "00210954" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212033" "00210955" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ" "DNA" "" "" "0000212050" "00210972" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212106" "00211028" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212107" "00211029" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212109" "00211031" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000212117" "00211039" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212163" "00211085" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ" "DNA" "" "" "0000212188" "00211110" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212189" "00211111" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212190" "00211112" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212191" "00211113" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000363506" "00362277" "1" "00006" "00006" "2021-04-20 17:31:21" "00006" "2021-04-20 17:36:17" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363507" "00362278" "1" "00006" "00006" "2021-04-20 17:34:52" "00006" "2021-04-20 17:36:56" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363508" "00362279" "1" "00006" "00006" "2021-04-20 17:39:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363509" "00362280" "1" "00006" "00006" "2021-04-20 18:37:49" "00006" "2021-04-20 18:51:00" "arrayCGH;SEQ" "DNA;RNA" "" "" "0000363510" "00362281" "1" "00006" "00006" "2021-04-20 18:53:50" "" "" "arrayCGH;RT-PCRq" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000211911" "RPL35A" "0000211997" "RPL35A" "0000211997" "RPL5" "0000212014" "RPL35A" "0000212032" "RPL35A" "0000212033" "RPL35A" "0000212050" "RPL35A" "0000212106" "RPL35A" "0000212107" "RPL35A" "0000212109" "RPL35A" "0000212117" "RPL35A" "0000212163" "RPL35A" "0000212188" "RPL35A" "0000212189" "RPL35A" "0000212190" "RPL35A" "0000212191" "RPL35A" "0000363506" "RPL35A" "0000363507" "RPL35A" "0000363508" "RPL35A" "0000363509" "RPL35A" "0000363510" "RPL35A" ## 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 = 28 "{{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}}" "0000307367" "0" "30" "3" "197680967" "197680967" "subst" "8.12262E-6" "01943" "IQCG_000001" "g.197680967C>A" "" "" "" "RPL35A(NM_000996.4):c.258C>A (p.A86=, p.(Ala86=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197954096C>A" "" "likely benign" "" "0000443545" "1" "90" "3" "197677052" "197682719" "del" "0" "00006" "RPL35A_000001" "g.(?_197677052)_(197682719_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443636" "1" "90" "3" "197680936" "197680936" "subst" "0" "00006" "IQCG_000006" "g.197680936G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.197954065G>A" "" "pathogenic (dominant)" "" "0000443655" "1" "90" "3" "197677052" "197682719" "del" "0" "00006" "RPL35A_000001" "g.(?_197677052)_(197682719_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443673" "1" "90" "3" "197680920" "197680920" "subst" "0" "00006" "IQCG_000005" "g.197680920T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.197954049T>G" "" "pathogenic (dominant)" "" "0000443674" "1" "90" "3" "197680920" "197680920" "subst" "0" "00006" "IQCG_000005" "g.197680920T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.197954049T>G" "" "pathogenic (dominant)" "" "0000443692" "1" "90" "3" "197681013" "197681013" "subst" "0" "00006" "IQCG_000007" "g.197681013C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.197954142C>T" "" "pathogenic (dominant)" "" "0000443749" "1" "90" "3" "197678115" "197678115" "subst" "0" "00006" "IQCG_000003" "g.197678115G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.197951244G>A" "" "pathogenic (dominant)" "" "0000443750" "1" "90" "3" "197678115" "197678115" "subst" "0" "00006" "IQCG_000003" "g.197678115G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.197951244G>A" "" "pathogenic (dominant)" "" "0000443752" "1" "90" "3" "197678027" "197678027" "subst" "0" "00006" "IQCG_000002" "g.197678027T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.197951156T>G" "" "pathogenic (dominant)" "" "0000443760" "1" "90" "3" "197678185" "197678185" "subst" "0" "00006" "IQCG_000004" "g.197678185A>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.197951314A>T" "" "pathogenic (dominant)" "" "0000443806" "1" "90" "3" "197681013" "197681013" "subst" "0" "00006" "IQCG_000007" "g.197681013C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.197954142C>T" "" "pathogenic (dominant)" "" "0000443831" "0" "70" "3" "197677788" "197677901" "del" "0" "00006" "RPL35A_000002" "g.(?_197677788)_(197677901_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443832" "0" "70" "3" "197677837" "197677851" "del" "0" "00006" "RPL35A_000003" "g.(?_197677837)_(197677851_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443833" "0" "70" "3" "197677837" "197677851" "del" "0" "00006" "RPL35A_000003" "g.(?_197677837)_(197677851_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443834" "0" "70" "3" "197680309" "197680415" "del" "0" "00006" "RPL35A_000004" "g.(?_197680309)_(197680415_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000518923" "0" "30" "3" "197670782" "197670782" "subst" "0.000714703" "01943" "IQCG_000008" "g.197670782G>A" "" "" "" "IQCG(NM_001323027.1):c.149C>T (p.P50L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197943911G>A" "" "likely benign" "" "0000518924" "0" "30" "3" "197687102" "197687102" "subst" "0.00496961" "01804" "IQCG_000009" "g.197687102A>G" "" "" "" "LMLN(NM_001136049.2):c.10A>G (p.(Thr4Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197960231A>G" "" "likely benign" "" "0000689010" "0" "90" "3" "197678143" "197678143" "subst" "0" "01804" "IQCG_000010" "g.197678143A>G" "" "" "" "RPL35A(NM_000996.2):c.125A>G (p.(Tyr42Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000764203" "0" "90" "3" "197678100" "197678102" "del" "0" "00006" "RPL35A_000005" "g.197678100_197678102del" "" "{PMID:Farrar 2008:18535205}" "" "del82–84CTT" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764204" "0" "90" "3" "197681013" "197681013" "subst" "0" "00006" "IQCG_000007" "g.197681013C>T" "" "{PMID:Farrar 2008:18535205}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764205" "1" "90" "3" "197678115" "197678115" "subst" "0" "00006" "IQCG_000003" "g.197678115G>A" "" "{PMID:Farrar 2008:18535205}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764206" "0" "90" "3" "0" "0" "" "0" "00006" "RPL35A_000006" "g.188456180_(192300001_qter)del" "" "{PMID:Farrar 2008:18535205}" "" "" "10 Mb deletion from centromere to LPP intron 7; transcript level 0.5" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764207" "0" "90" "3" "0" "0" "" "0" "00006" "RPL35A_000006" "g.(193857000_194050000)_(198000001_qter)" "" "{PMID:Farrar 2008:18535205}" "" "" "4Mb deletion; transcript level 0.5" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000801135" "0" "90" "3" "197678100" "197678102" "del" "0" "01804" "RPL35A_000005" "g.197678100_197678102del" "" "" "" "RPL35A(NM_000996.2):c.82_84del (p.(Leu28del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858936" "0" "10" "3" "197677108" "197677108" "subst" "0" "02326" "IQCG_000011" "g.197677108G>C" "" "" "" "RPL35A(NM_000996.4):c.-33+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000993547" "0" "90" "3" "197678143" "197678143" "subst" "0" "02327" "IQCG_000010" "g.197678143A>G" "" "" "" "RPL35A(NM_000996.2):c.125A>G (p.(Tyr42Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033877" "0" "30" "3" "197680967" "197680967" "subst" "8.12262E-6" "01804" "IQCG_000001" "g.197680967C>A" "" "" "" "RPL35A(NM_000996.4):c.258C>A (p.A86=, p.(Ala86=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RPL35A ## Count = 28 "{{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}}" "0000307367" "00018134" "30" "258" "0" "258" "0" "c.258C>A" "r.(?)" "p.(Ala86=)" "" "0000443545" "00018134" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443636" "00018134" "90" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76Gln)" "" "0000443655" "00018134" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443673" "00018134" "90" "211" "0" "211" "0" "c.211T>G" "r.(?)" "p.(Trp71Gly)" "" "0000443674" "00018134" "90" "211" "0" "211" "0" "c.211T>G" "r.(?)" "p.(Trp71Gly)" "" "0000443692" "00018134" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "" "0000443749" "00018134" "90" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Val33Ile)" "" "0000443750" "00018134" "90" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Val33Ile)" "" "0000443752" "00018134" "90" "12" "-3" "12" "-3" "c.12-3T>G" "r.[12_164del,=]" "p.?" "" "0000443760" "00018134" "90" "164" "3" "164" "3" "c.164+3A>T" "r.spl" "p.?" "" "0000443806" "00018134" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "" "0000443831" "00018134" "70" "-32" "-19" "11" "52" "c.(?_-32-19)_(11+52_?)del" "r.?" "p.0?" "" "0000443832" "00018134" "70" "-2" "0" "11" "2" "c.(?_-2)_(11+2_?)del" "r.?" "p.0?" "" "0000443833" "00018134" "70" "-2" "0" "11" "2" "c.(?_-2)_(11+2_?)del" "r.?" "p.0?" "" "0000443834" "00018134" "70" "165" "-565" "165" "-459" "c.(?_165-565)_(165-459_?)del" "r.?" "p.?" "" "0000518923" "00018134" "30" "-6343" "0" "-6343" "0" "c.-6343G>A" "r.(?)" "p.(=)" "" "0000518924" "00018134" "30" "4791" "0" "4791" "0" "c.*4458A>G" "r.(=)" "p.(=)" "" "0000689010" "00018134" "90" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(Tyr42Cys)" "" "0000764203" "00018134" "90" "82" "0" "84" "0" "c.82_84del" "r.82_84del" "p.Leu28del" "3" "0000764204" "00018134" "90" "304" "0" "304" "0" "c.304C>T" "r.304c>u" "p.Arg102*" "4" "0000764205" "00018134" "90" "97" "0" "97" "0" "c.97G>A" "r.95_164del" "p.Gly92fs" "3" "0000764206" "00018134" "90" "0" "0" "0" "0" "c.-73_*78{0}" "r.0" "p.0" "_1_5_" "0000764207" "00018134" "90" "0" "0" "0" "0" "c.-73_*78{0}" "r.0" "p.0" "_1_5_" "0000801135" "00018134" "90" "82" "0" "84" "0" "c.82_84del" "r.(?)" "p.(Leu28del)" "" "0000858936" "00018134" "10" "-33" "16" "-33" "16" "c.-33+16G>C" "r.(=)" "p.(=)" "" "0000993547" "00018134" "90" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(Tyr42Cys)" "" "0001033877" "00018134" "30" "258" "0" "258" "0" "c.258C>A" "r.(?)" "p.(Ala86=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000211911" "0000443545" "0000211997" "0000443636" "0000212014" "0000443655" "0000212032" "0000443673" "0000212033" "0000443674" "0000212050" "0000443692" "0000212106" "0000443749" "0000212107" "0000443750" "0000212109" "0000443752" "0000212117" "0000443760" "0000212163" "0000443806" "0000212188" "0000443831" "0000212189" "0000443832" "0000212190" "0000443833" "0000212191" "0000443834" "0000363506" "0000764203" "0000363507" "0000764204" "0000363508" "0000764205" "0000363509" "0000764206" "0000363510" "0000764207"