### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACP5) # 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}}" "ACP5" "acid phosphatase 5, tartrate resistant" "19" "p13.2" "unknown" "NG_028127.1" "UD_132085323489" "" "https://www.LOVD.nl/ACP5" "" "1" "124" "54" "171640" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ACP5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-06-28 00:00:00" "00006" "2017-06-29 15:24:37" "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}}" "00024278" "ACP5" "transcript variant 1" "002" "NM_001111035.1" "" "NP_001104505.1" "" "" "" "-303" "1328" "978" "11689801" "11685475" "00006" "2017-06-29 15:25:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02726" "SPENCDI" "Spondyloenchondrodysplasia, with immune dysregulation (SPENCDI)" "AR" "607944" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACP5" "02726" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00117855" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "" "F" "" "France" "" "0" "" "" "" "" "00117856" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "consanguineous parents (uncle-niece)" "M" "yes" "India" "" "0" "" "" "" "" "00117857" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "brother patient 5; consanguineous parents (first cousins)" "M" "yes" "Turkey" "" "0" "" "" "" "" "00117858" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "sister patient 4; consanguineous parents (first cousins)" "F" "yes" "Turkey" "" "0" "" "" "" "" "00117859" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "twin sister patient 3" "" "" "Austria" "" "0" "" "" "" "" "00117860" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "twin brother patient 2" "M" "" "Austria" "" "0" "" "" "" "" "00117861" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "" "F" "" "Mali" "" "0" "" "" "" "" "00117862" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "consanguineous parents (first cousins)" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00117863" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "" "F" "" "Egypt" "" "0" "" "" "" "" "00117864" "" "" "" "1" "" "02083" "{PMID:Briggs 2011:21217755}" "consanguineous parents (first cousins)" "F" "yes" "Portugal" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00117855" "02726" "00117856" "02726" "00117857" "02726" "00117858" "02726" "00117859" "02726" "00117860" "02726" "00117861" "02726" "00117862" "02726" "00117863" "02726" "00117864" "02726" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02726 ## Count = 10 "{{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}}" "0000093243" "02726" "00117855" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000093244" "02726" "00117856" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000093245" "02726" "00117857" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000093246" "02726" "00117858" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000093247" "02726" "00117859" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000093248" "02726" "00117860" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000093249" "02726" "00117861" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000093250" "02726" "00117862" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000093251" "02726" "00117863" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000093252" "02726" "00117864" "02083" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000118318" "00117855" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:43:47" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118319" "00117856" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:43:47" "SEQ" "DNA" "" "" "0000118320" "00117857" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:43:47" "SEQ" "DNA" "" "" "0000118321" "00117858" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:43:47" "SEQ" "DNA" "" "" "0000118322" "00117859" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:43:47" "SEQ" "DNA" "" "" "0000118323" "00117860" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:43:47" "SEQ" "DNA" "" "" "0000118324" "00117861" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:43:47" "SEQ" "DNA" "" "" "0000118325" "00117862" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:45:04" "SEQ" "DNA" "" "" "0000118326" "00117863" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:45:31" "SEQ" "DNA" "" "" "0000118327" "00117864" "1" "02083" "00006" "2011-06-28 16:26:06" "00006" "2012-11-09 06:43:47" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000118318" "ACP5" "0000118319" "ACP5" "0000118320" "ACP5" "0000118321" "ACP5" "0000118322" "ACP5" "0000118323" "ACP5" "0000118324" "ACP5" "0000118325" "ACP5" "0000118326" "ACP5" "0000118327" "ACP5" ## 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 = 43 "{{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}}" "0000194410" "3" "90" "19" "11501240" "11770437" "" "0" "02083" "ACP5_000008" "g.(?_11501240)_(11770437_?)del" "" "{PMID:Briggs 2011:21217755}" "" "11,543,542-11,558,411del" "complete gene deletion, 35 SNPs in a 270 kb segment between rs4804628 and rs318699" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000194411" "3" "90" "19" "11685475" "11689801" "" "0" "02083" "ACP5_000009" "g.(?_11685475)_(11689801_?)del" "" "{PMID:Briggs 2011:21217755}" "" "11,543,690-11,548,656del" "full gene deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000194412" "3" "90" "19" "11687654" "11687654" "subst" "0" "02083" "ACP5_000003" "g.11687654G>A" "" "{PMID:Briggs 2011:21217755}" "" "" "" "Germline" "" "" "0" "" "" "g.11576839G>A" "" "pathogenic" "" "0000194413" "3" "90" "19" "11687654" "11687654" "subst" "0" "02083" "ACP5_000003" "g.11687654G>A" "" "{PMID:Briggs 2011:21217755}" "" "" "" "Germline" "" "" "0" "" "" "g.11576839G>A" "" "pathogenic" "" "0000194414" "1" "90" "19" "11687551" "11687551" "subst" "0" "02083" "ACP5_000001" "g.11687551G>T" "" "{PMID:Briggs 2011:21217755}" "" "" "" "Germline" "" "" "0" "" "" "g.11576736G>T" "" "pathogenic" "" "0000194415" "1" "90" "19" "11687551" "11687551" "subst" "0" "02083" "ACP5_000001" "g.11687551G>T" "" "{PMID:Briggs 2011:21217755}" "" "" "" "Germline" "" "" "0" "" "" "g.11576736G>T" "" "pathogenic" "" "0000194416" "3" "90" "19" "11687150" "11687150" "subst" "0" "02083" "ACP5_000006" "g.11687150C>T" "" "{PMID:Briggs 2011:21217755}" "" "" "" "Germline" "" "" "0" "" "" "g.11576335C>T" "" "pathogenic" "" "0000194417" "3" "90" "19" "11687126" "11687126" "subst" "0" "02083" "ACP5_000004" "g.11687126G>A" "" "{PMID:Briggs 2011:21217755}" "" "" "" "Germline" "" "" "0" "" "" "g.11576311G>A" "" "pathogenic" "" "0000194418" "2" "90" "19" "11687072" "11687072" "subst" "0" "02083" "ACP5_000002" "g.11687072C>T" "" "{PMID:Briggs 2011:21217755}" "" "" "" "Germline" "" "" "0" "" "" "g.11576257C>T" "" "pathogenic" "" "0000194419" "2" "90" "19" "11687072" "11687072" "subst" "0" "02083" "ACP5_000002" "g.11687072C>T" "" "{PMID:Briggs 2011:21217755}" "" "" "" "Germline" "" "" "0" "" "" "g.11576257C>T" "" "pathogenic" "" "0000194420" "3" "90" "19" "11686013" "11686031" "del" "0" "02083" "ACP5_000007" "g.11686013_11686031del" "" "{PMID:Briggs 2011:21217755}" "" "771_790del" "variant description corrected after contacting authors" "Germline" "" "" "0" "" "" "g.11575198_11575216del" "" "pathogenic" "" "0000194421" "3" "90" "19" "11686012" "11686012" "subst" "8.15288E-6" "02083" "ACP5_000005" "g.11686012A>T" "" "{PMID:Briggs 2011:21217755}" "" "" "" "Germline" "" "" "0" "" "" "g.11575197A>T" "" "pathogenic" "" "0000261792" "0" "30" "19" "11687192" "11687192" "subst" "0.000512215" "01943" "ACP5_000010" "g.11687192G>A" "" "" "" "ACP5(NM_001111035.2):c.601C>T (p.L201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11576377G>A" "" "likely benign" "" "0000349523" "0" "90" "19" "11688002" "11688002" "subst" "2.03079E-5" "02327" "ACP5_000011" "g.11688002G>A" "" "" "" "ACP5(NM_001611.5):c.131C>T (p.(Thr44Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11577187G>A" "" "pathogenic" "" "0000566032" "0" "30" "19" "11685989" "11685989" "subst" "0.00311564" "01943" "ACP5_000012" "g.11685989G>A" "" "" "" "ACP5(NM_001111034.1):c.814C>T (p.(Arg272Cys)), ACP5(NM_001111035.2):c.814C>T (p.R272C), ACP5(NM_001611.5):c.814C>T (p.R272C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11575174G>A" "" "likely benign" "" "0000566033" "0" "30" "19" "11685989" "11685989" "subst" "0.00311564" "01804" "ACP5_000012" "g.11685989G>A" "" "" "" "ACP5(NM_001111034.1):c.814C>T (p.(Arg272Cys)), ACP5(NM_001111035.2):c.814C>T (p.R272C), ACP5(NM_001611.5):c.814C>T (p.R272C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11575174G>A" "" "likely benign" "" "0000566034" "0" "30" "19" "11685989" "11685989" "subst" "0.00311564" "02326" "ACP5_000012" "g.11685989G>A" "" "" "" "ACP5(NM_001111034.1):c.814C>T (p.(Arg272Cys)), ACP5(NM_001111035.2):c.814C>T (p.R272C), ACP5(NM_001611.5):c.814C>T (p.R272C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11575174G>A" "" "likely benign" "" "0000566035" "0" "50" "19" "11685998" "11685998" "subst" "0.000232111" "01943" "ACP5_000013" "g.11685998G>A" "" "" "" "ACP5(NM_001111035.2):c.805C>T (p.R269W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11575183G>A" "" "VUS" "" "0000566036" "0" "10" "19" "11687132" "11687132" "subst" "0.00905611" "02326" "ACP5_000014" "g.11687132C>T" "" "" "" "ACP5(NM_001111034.1):c.661G>A (p.(Val221Ile)), ACP5(NM_001111035.3):c.661G>A (p.V221I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11576317C>T" "" "benign" "" "0000566037" "0" "50" "19" "11687380" "11687382" "del" "0" "01943" "ACP5_000015" "g.11687380_11687382del" "" "" "" "ACP5(NM_001111035.2):c.413_415delGCC (p.R138del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11576565_11576567del" "" "VUS" "" "0000566038" "0" "50" "19" "11687534" "11687534" "subst" "5.2788E-5" "01943" "ACP5_000016" "g.11687534C>T" "" "" "" "ACP5(NM_001111035.2):c.386G>A (p.R129H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11576719C>T" "" "VUS" "" "0000617350" "0" "30" "19" "11688118" "11688118" "subst" "2.03955E-5" "01943" "ACP5_000017" "g.11688118C>T" "" "" "" "ACP5(NM_001111035.2):c.15G>A (p.T5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11577303C>T" "" "likely benign" "" "0000658478" "0" "10" "19" "11666091" "11666092" "del" "0" "02330" "CNN1_000002" "g.11666091_11666092del" "" "" "" "ELOF1(NM_001363675.2):c.-11-29_-11-28delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11555276_11555277del" "" "benign" "" "0000658479" "0" "30" "19" "11687073" "11687073" "subst" "6.22216E-5" "01943" "ACP5_000018" "g.11687073G>A" "" "" "" "ACP5(NM_001111035.2):c.720C>T (p.H240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11576258G>A" "" "likely benign" "" "0000658480" "0" "30" "19" "11687298" "11687298" "subst" "0" "01943" "ACP5_000019" "g.11687298A>C" "" "" "" "ACP5(NM_001111035.2):c.495T>G (p.D165E), ACP5(NM_001111035.3):c.495T>G (p.D165E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11576483A>C" "" "likely benign" "" "0000727119" "0" "10" "19" "11685942" "11685942" "subst" "0.00251387" "02326" "ACP5_000020" "g.11685942G>A" "" "" "" "ACP5(NM_001111035.3):c.861C>T (p.D287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727120" "0" "30" "19" "11685943" "11685943" "subst" "0.000406124" "01943" "ACP5_000021" "g.11685943T>G" "" "" "" "ACP5(NM_001111035.2):c.860A>C (p.D287A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727121" "0" "50" "19" "11687604" "11687604" "subst" "0.00020709" "01943" "ACP5_000022" "g.11687604C>T" "" "" "" "ACP5(NM_001111035.2):c.316G>A (p.V106M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808659" "0" "30" "19" "11687132" "11687132" "subst" "0.00905611" "01804" "ACP5_000014" "g.11687132C>T" "" "" "" "ACP5(NM_001111034.1):c.661G>A (p.(Val221Ile)), ACP5(NM_001111035.3):c.661G>A (p.V221I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855432" "0" "30" "19" "11685945" "11685945" "subst" "0" "01943" "ACP5_000023" "g.11685945T>C" "" "" "" "ACP5(NM_001111035.2):c.858A>G (p.E286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855433" "0" "30" "19" "11686037" "11686037" "subst" "0.000603161" "01943" "ACP5_000024" "g.11686037C>G" "" "" "" "ACP5(NM_001111035.2):c.766G>C (p.V256L), ACP5(NM_001111035.3):c.766G>C (p.V256L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865849" "0" "30" "19" "11687621" "11687621" "subst" "0.00115728" "01943" "ACP5_000025" "g.11687621C>T" "" "" "" "ACP5(NM_001111035.2):c.299G>A (p.R100H), ACP5(NM_001611.3):c.299G>A (p.(Arg100His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865850" "0" "30" "19" "11687630" "11687630" "subst" "7.30911E-5" "02326" "ACP5_000026" "g.11687630C>T" "" "" "" "ACP5(NM_001111035.3):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894769" "0" "30" "19" "11686037" "11686037" "subst" "0.000603161" "02326" "ACP5_000024" "g.11686037C>G" "" "" "" "ACP5(NM_001111035.2):c.766G>C (p.V256L), ACP5(NM_001111035.3):c.766G>C (p.V256L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894770" "0" "30" "19" "11687298" "11687298" "subst" "0" "02326" "ACP5_000019" "g.11687298A>C" "" "" "" "ACP5(NM_001111035.2):c.495T>G (p.D165E), ACP5(NM_001111035.3):c.495T>G (p.D165E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894771" "0" "30" "19" "11687644" "11687644" "subst" "0.00125475" "02326" "ACP5_000027" "g.11687644G>A" "" "" "" "ACP5(NM_001111035.3):c.276C>T (p.D92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915119" "0" "30" "19" "11687250" "11687250" "subst" "0.000207893" "02326" "ACP5_000028" "g.11687250G>T" "" "" "" "ACP5(NM_001111035.3):c.543C>A (p.A181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969547" "0" "10" "19" "11666091" "11666092" "del" "0" "02329" "CNN1_000002" "g.11666091_11666092del" "" "" "" "ELOF1(NM_001363675.4):c.-74-29_-74-28delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001004345" "0" "30" "19" "11687621" "11687621" "subst" "0.00115728" "01804" "ACP5_000025" "g.11687621C>T" "" "" "" "ACP5(NM_001111035.2):c.299G>A (p.R100H), ACP5(NM_001611.3):c.299G>A (p.(Arg100His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027168" "0" "30" "19" "11666090" "11666092" "del" "0" "02325" "CNN1_000003" "g.11666090_11666092del" "" "" "" "ELOF1(NM_001363675.4):c.-74-30_-74-28delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027169" "0" "50" "19" "11686045" "11686045" "subst" "1.23469E-5" "02325" "ACP5_000029" "g.11686045A>G" "" "" "" "ACP5(NM_001111035.3):c.758T>C (p.V253A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042603" "0" "50" "19" "11686070" "11686070" "subst" "4.17045E-6" "01804" "ACP5_000030" "g.11686070G>A" "" "" "" "ACP5(NM_001611.5):c.736-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042604" "0" "50" "19" "11688002" "11688002" "subst" "2.03079E-5" "01804" "ACP5_000011" "g.11688002G>A" "" "" "" "ACP5(NM_001611.5):c.131C>T (p.(Thr44Met))" "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 ACP5 ## Count = 43 "{{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}}" "0000194410" "00024278" "90" "-303" "0" "1328" "0" "c.(?_-303)_(*350_?)del" "r.0" "p.0" "_1_7_" "0000194411" "00024278" "90" "-303" "0" "1328" "0" "c.(?_-303)_(*350_?)del" "r.spl?" "p.?" "_1_7_" "0000194412" "00024278" "90" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Thr89Ile)" "5" "0000194413" "00024278" "90" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Thr89Ile)" "5" "0000194414" "00024278" "90" "369" "0" "369" "0" "c.369C>A" "r.(?)" "p.(Tyr123*)" "5" "0000194415" "00024278" "90" "369" "0" "369" "0" "c.369C>A" "r.(?)" "p.(Tyr123*)" "5" "0000194416" "00024278" "90" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Gly215Arg)" "6" "0000194417" "00024278" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223*)" "6" "0000194418" "00024278" "90" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Asp241Asn)" "6" "0000194419" "00024278" "90" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Asp241Asn)" "6" "0000194420" "00024278" "90" "772" "0" "790" "0" "c.772_790del" "r.(?)" "p.(Ser258Trpfs*39)" "7" "0000194421" "00024278" "90" "791" "0" "791" "0" "c.791T>A" "r.(?)" "p.(Met264Lys)" "7" "0000261792" "00024278" "30" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Leu201=)" "" "0000349523" "00024278" "90" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Thr44Met)" "" "0000566032" "00024278" "30" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000566033" "00024278" "30" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000566034" "00024278" "30" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000566035" "00024278" "50" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Trp)" "" "0000566036" "00024278" "10" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Val221Ile)" "" "0000566037" "00024278" "50" "413" "0" "415" "0" "c.413_415del" "r.(?)" "p.(Arg138del)" "" "0000566038" "00024278" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129His)" "" "0000617350" "00024278" "30" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(Thr5=)" "" "0000658478" "00024278" "10" "20730" "0" "20731" "0" "c.*19752_*19753del" "r.(=)" "p.(=)" "" "0000658479" "00024278" "30" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(His240=)" "" "0000658480" "00024278" "30" "495" "0" "495" "0" "c.495T>G" "r.(?)" "p.(Asp165Glu)" "" "0000727119" "00024278" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Asp287=)" "" "0000727120" "00024278" "30" "860" "0" "860" "0" "c.860A>C" "r.(?)" "p.(Asp287Ala)" "" "0000727121" "00024278" "50" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Val106Met)" "" "0000808659" "00024278" "30" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Val221Ile)" "" "0000855432" "00024278" "30" "858" "0" "858" "0" "c.858A>G" "r.(?)" "p.(Glu286=)" "" "0000855433" "00024278" "30" "766" "0" "766" "0" "c.766G>C" "r.(?)" "p.(Val256Leu)" "" "0000865849" "00024278" "30" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "" "0000865850" "00024278" "30" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97His)" "" "0000894769" "00024278" "30" "766" "0" "766" "0" "c.766G>C" "r.(?)" "p.(Val256Leu)" "" "0000894770" "00024278" "30" "495" "0" "495" "0" "c.495T>G" "r.(?)" "p.(Asp165Glu)" "" "0000894771" "00024278" "30" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Asp92=)" "" "0000915119" "00024278" "30" "543" "0" "543" "0" "c.543C>A" "r.(?)" "p.(Ala181=)" "" "0000969547" "00024278" "10" "20730" "0" "20731" "0" "c.*19752_*19753del" "r.(=)" "p.(=)" "" "0001004345" "00024278" "30" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "" "0001027168" "00024278" "30" "20729" "0" "20731" "0" "c.*19751_*19753del" "r.(=)" "p.(=)" "" "0001027169" "00024278" "50" "758" "0" "758" "0" "c.758T>C" "r.(?)" "p.(Val253Ala)" "" "0001042603" "00024278" "50" "736" "-3" "736" "-3" "c.736-3C>T" "r.spl?" "p.?" "" "0001042604" "00024278" "50" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Thr44Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000118318" "0000194410" "0000118319" "0000194411" "0000118320" "0000194412" "0000118321" "0000194413" "0000118322" "0000194414" "0000118322" "0000194418" "0000118323" "0000194415" "0000118323" "0000194419" "0000118324" "0000194416" "0000118325" "0000194417" "0000118326" "0000194420" "0000118327" "0000194421"