### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CTSF) # 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}}" "CTSF" "cathepsin F" "11" "q13.2" "unknown" "NG_032973.1" "UD_132319497098" "" "https://www.LOVD.nl/CTSF" "" "1" "2531" "8722" "603539" "1" "1" "1" "1" "Alia CLN13.\r\nAn NCL gene variant database.\r\nEstablishment of this database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/CTSF_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-04-03 13:55:57" "00000" "2025-04-02 12:17:03" ## 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}}" "00005869" "CTSF" "cathepsin F" "001" "NM_003793.3" "" "NP_003784.2" "" "" "" "-90" "1924" "1455" "66336047" "66330935" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03909" "CLN13" "lipofuscinosis, ceroid, neuronal, type 13 (CLN-13, Kufs type)" "AR" "615362" "" "" "" "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}}" "CTSF" "03909" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00152531" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00290483" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307874" "" "" "" "1" "" "03765" "" "" "M" "yes" "India" "" "" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00152531" "00198" "00290483" "00198" "00307874" "03909" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03909 ## Count = 2 "{{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}}" "0000125492" "00198" "00152531" "01807" "Unknown" "" "HP:0002145 (Frontotemporal dementia)" "" "" "" "" "" "" "" "" "" "" "" "0000233298" "03909" "00307874" "03765" "Familial, autosomal recessive" "" "Urinary incontinence, Dementia, Impaired social interactions, Lethargy, Mental deterioration, Hepatic steatosis, Frontotemporal cerebral atrophy, Social and occupational deterioration, Speech apraxia, Brain atrophy, Impairment of activities of daily living" "35y" "?" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000153388" "00152531" "0" "01807" "01807" "2018-02-02 19:26:01" "" "" "SEQ" "DNA" "" "" "0000291651" "00290483" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309014" "00307874" "1" "03765" "03765" "2020-08-20 02:25:28" "" "" "SEQ" "DNA" "DBS" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000309014" "CTSF" ## 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 = 49 "{{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}}" "0000249908" "0" "10" "11" "66331458" "66331458" "subst" "0.520568" "02329" "CTSF_000004" "g.66331458A>G" "" "" "" "CTSF(NM_003793.3):c.1401T>C (p.R467=), CTSF(NM_003793.4):c.1401T>C (p.R467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66563987A>G" "" "benign" "" "0000249909" "0" "10" "11" "66335548" "66335548" "subst" "0.467143" "02329" "CTSF_000001" "g.66335548A>G" "" "" "" "CTSF(NM_003793.3):c.219T>C (p.G73=), CTSF(NM_003793.4):c.219T>C (p.G73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568077A>G" "" "benign" "" "0000250523" "0" "90" "11" "66334730" "66334730" "subst" "0" "02329" "CTSF_000014" "g.66334730A>T" "" "" "" "CTSF(NM_003793.4):c.594T>A (p.Y198*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66567259A>T" "" "pathogenic" "" "0000251031" "0" "10" "11" "66328055" "66328055" "subst" "0.159408" "02326" "CTSF_000019" "g.66328055A>G" "" "" "" "ACTN3(NM_001258371.2):c.1818A>G (p.T606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66560584A>G" "" "benign" "" "0000253132" "0" "10" "11" "66331458" "66331458" "subst" "0.520568" "01943" "CTSF_000004" "g.66331458A>G" "" "" "" "CTSF(NM_003793.3):c.1401T>C (p.R467=), CTSF(NM_003793.4):c.1401T>C (p.R467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66563987A>G" "" "benign" "" "0000253133" "0" "10" "11" "66335548" "66335548" "subst" "0.467143" "01943" "CTSF_000001" "g.66335548A>G" "" "" "" "CTSF(NM_003793.3):c.219T>C (p.G73=), CTSF(NM_003793.4):c.219T>C (p.G73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568077A>G" "" "benign" "" "0000268629" "0" "30" "11" "66332134" "66332134" "subst" "0.000188495" "02329" "CTSF_000006" "g.66332134G>A" "" "" "" "CTSF(NM_003793.4):c.1231-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66564663G>A" "" "likely benign" "" "0000268630" "0" "10" "11" "66335832" "66335832" "subst" "0.222426" "02329" "CTSF_000018" "g.66335832G>A" "" "" "" "CTSF(NM_003793.3):c.126C>T (p.P42=), CTSF(NM_003793.4):c.126C>T (p.P42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568361G>A" "" "benign" "" "0000268631" "0" "90" "11" "66335552" "66335552" "del" "0" "02329" "CTSF_000016" "g.66335552del" "" "" "" "CTSF(NM_003793.4):c.215delC (p.A72Gfs*76)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568081del" "" "pathogenic" "" "0000268632" "0" "30" "11" "66335028" "66335028" "subst" "0.00308614" "02329" "CTSF_000015" "g.66335028C>T" "" "" "" "CTSF(NM_003793.4):c.418G>A (p.A140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66567557C>T" "" "likely benign" "" "0000268633" "0" "70" "11" "66333834" "66333834" "subst" "8.12295E-6" "02329" "CTSF_000013" "g.66333834G>A" "" "" "" "CTSF(NM_003793.4):c.649C>T (p.R217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566363G>A" "" "likely pathogenic" "" "0000268634" "0" "30" "11" "66333807" "66333807" "subst" "0.00291583" "02329" "CTSF_000012" "g.66333807G>A" "" "" "" "CTSF(NM_003793.3):c.676C>T (p.R226C), CTSF(NM_003793.4):c.676C>T (p.R226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566336G>A" "" "likely benign" "" "0000268635" "0" "30" "11" "66333800" "66333800" "subst" "0.00103149" "02329" "CTSF_000011" "g.66333800G>C" "" "" "" "CTSF(NM_003793.3):c.683C>G (p.T228R), CTSF(NM_003793.4):c.683C>G (p.T228R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566329G>C" "" "likely benign" "" "0000268636" "0" "10" "11" "66333643" "66333643" "subst" "0.0881855" "02329" "CTSF_000010" "g.66333643G>A" "" "" "" "CTSF(NM_003793.4):c.722-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566172G>A" "" "benign" "" "0000268637" "0" "10" "11" "66333598" "66333598" "subst" "0.521264" "02329" "CTSF_000009" "g.66333598C>T" "" "" "" "CTSF(NM_003793.3):c.762G>A (p.R254=), CTSF(NM_003793.4):c.762G>A (p.R254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566127C>T" "" "benign" "" "0000268638" "0" "90" "11" "66333569" "66333569" "del" "0" "02329" "CTSF_000008" "g.66333569del" "" "" "" "CTSF(NM_003793.4):c.792delC (p.K265Sfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566098del" "" "pathogenic" "" "0000274603" "0" "50" "11" "66333181" "66333181" "subst" "0" "01943" "CTSF_000007" "g.66333181C>A" "" "" "" "CTSF(NM_003793.3):c.1006G>T (p.G336C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66565710C>A" "" "VUS" "" "0000274604" "0" "10" "11" "66335832" "66335832" "subst" "0.222426" "01943" "CTSF_000018" "g.66335832G>A" "" "" "" "CTSF(NM_003793.3):c.126C>T (p.P42=), CTSF(NM_003793.4):c.126C>T (p.P42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568361G>A" "" "benign" "" "0000274605" "0" "50" "11" "66331591" "66331591" "subst" "0" "01943" "CTSF_000005" "g.66331591T>C" "" "" "" "CTSF(NM_003793.3):c.1348A>G (p.K450E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66564120T>C" "" "VUS" "" "0000274606" "0" "30" "11" "66335798" "66335798" "subst" "0" "01943" "CTSF_000017" "g.66335798G>C" "" "" "" "CTSF(NM_003793.3):c.160C>G (p.R54G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568327G>C" "" "likely benign" "" "0000274607" "0" "10" "11" "66333598" "66333598" "subst" "0.521264" "01943" "CTSF_000009" "g.66333598C>T" "" "" "" "CTSF(NM_003793.3):c.762G>A (p.R254=), CTSF(NM_003793.4):c.762G>A (p.R254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566127C>T" "" "benign" "" "0000352487" "3" "90" "11" "66335548" "66335548" "del" "0" "01807" "CTSF_000003" "g.66335548delinsCAGGG" "" "" "" "219delTinsCCCTG" "" "Unknown" "" "" "0" "" "" "g.66568077delinsCAGGG" "" "pathogenic" "" "0000545138" "0" "30" "11" "66331571" "66331571" "subst" "0.00175269" "02329" "CTSF_000020" "g.66331571G>A" "" "" "" "CTSF(NM_003793.4):c.1368C>T (p.D456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66564100G>A" "" "likely benign" "" "0000545139" "0" "30" "11" "66332132" "66332132" "subst" "0.000734166" "02329" "CTSF_000021" "g.66332132A>G" "" "" "" "CTSF(NM_003793.4):c.1231-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66564661A>G" "" "likely benign" "" "0000545140" "0" "30" "11" "66333327" "66333327" "subst" "0.00175929" "02329" "CTSF_000022" "g.66333327C>T" "" "" "" "CTSF(NM_003793.4):c.939G>A (p.G313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66565856C>T" "" "likely benign" "" "0000545142" "0" "50" "11" "66333800" "66333800" "subst" "0.00103149" "01943" "CTSF_000011" "g.66333800G>C" "" "" "" "CTSF(NM_003793.3):c.683C>G (p.T228R), CTSF(NM_003793.4):c.683C>G (p.T228R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566329G>C" "" "VUS" "" "0000545143" "0" "30" "11" "66333807" "66333807" "subst" "0.00291583" "01943" "CTSF_000012" "g.66333807G>A" "" "" "" "CTSF(NM_003793.3):c.676C>T (p.R226C), CTSF(NM_003793.4):c.676C>T (p.R226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566336G>A" "" "likely benign" "" "0000545144" "0" "30" "11" "66333855" "66333855" "subst" "6.5001E-5" "02329" "CTSF_000023" "g.66333855C>T" "" "" "" "CTSF(NM_003793.4):c.628G>A (p.V210I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566384C>T" "" "likely benign" "" "0000545145" "0" "30" "11" "66334727" "66334727" "subst" "0.000207102" "02329" "CTSF_000024" "g.66334727C>T" "" "" "" "CTSF(NM_003793.4):c.597G>A (p.E199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66567256C>T" "" "likely benign" "" "0000545146" "0" "30" "11" "66335094" "66335094" "subst" "4.06653E-6" "02329" "CTSF_000025" "g.66335094C>T" "" "" "" "CTSF(NM_003793.4):c.352G>A (p.V118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66567623C>T" "" "likely benign" "" "0000613590" "0" "50" "11" "66333798" "66333798" "subst" "0" "01943" "CTSF_000027" "g.66333798C>G" "" "" "" "CTSF(NM_003793.3):c.685G>C (p.A229P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566327C>G" "" "VUS" "" "0000613591" "0" "30" "11" "66335927" "66335927" "subst" "0" "01943" "CTSF_000028" "g.66335927G>A" "" "" "" "CTSF(NM_003793.3):c.31C>T (p.L11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66568456G>A" "" "likely benign" "" "0000622685" "0" "30" "11" "66332128" "66332128" "subst" "0" "01943" "CTSF_000026" "g.66332128G>A" "" "" "" "CTSF(NM_003793.3):c.1231-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66564657G>A" "" "likely benign" "" "0000648340" "1" "30" "11" "66333807" "66333807" "subst" "0.00291583" "03575" "CTSF_000012" "g.66333807G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs143313688}" "Germline" "" "rs143313688" "0" "" "" "g.66566336G>A" "" "likely benign" "" "0000656866" "0" "70" "11" "66331443" "66331443" "subst" "0" "02329" "CTSF_000029" "g.66331443A>C" "" "" "" "CTSF(NM_003793.4):c.1416T>G (p.C472W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66563972A>C" "" "likely pathogenic" "" "0000656867" "0" "30" "11" "66333869" "66333869" "subst" "0.000134197" "02329" "CTSF_000030" "g.66333869C>T" "" "" "" "CTSF(NM_003793.4):c.614G>A (p.R205Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566398C>T" "" "likely benign" "" "0000683460" "3" "70" "11" "66333183" "66333189" "delins" "0" "03765" "CTSF_000031" "g.66333183_66333189delinsAGT" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000691134" "0" "50" "11" "66327763" "66327763" "subst" "0" "01943" "CTSF_000032" "g.66327763A>G" "" "" "" "ACTN3(NM_001258371.2):c.1787A>G (p.H596R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691135" "0" "30" "11" "66329099" "66329099" "subst" "0" "01943" "CTSF_000033" "g.66329099C>T" "" "" "" "ACTN3(NM_001258371.2):c.2295C>T (p.Y765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723609" "0" "70" "11" "66332107" "66332107" "subst" "8.00978E-5" "01943" "CTSF_000034" "g.66332107C>T" "" "" "" "CTSF(NM_003793.3):c.1243G>A (p.G415R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723610" "0" "30" "11" "66335503" "66335503" "subst" "4.26741E-6" "02329" "CTSF_000035" "g.66335503G>C" "" "" "" "CTSF(NM_003793.4):c.264C>G (p.P88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805292" "0" "30" "11" "66334711" "66334711" "subst" "0" "01943" "CTSF_000036" "g.66334711C>T" "" "" "" "CTSF(NM_003793.3):c.607+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805293" "0" "30" "11" "66335781" "66335781" "subst" "0.000560538" "01943" "CTSF_000037" "g.66335781C>T" "" "" "" "CTSF(NM_003793.3):c.177G>A (p.R59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890093" "0" "70" "11" "66333223" "66333223" "subst" "4.06167E-6" "02329" "CTSF_000038" "g.66333223C>T" "" "" "" "CTSF(NM_003793.4):c.965-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999331" "0" "50" "11" "66331468" "66331468" "subst" "0" "01804" "CTSF_000039" "g.66331468T>C" "" "" "" "CTSF(NM_003793.3):c.1391A>G (p.(Tyr464Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999332" "0" "50" "11" "66335783" "66335783" "subst" "0" "01804" "CTSF_000040" "g.66335783G>A" "" "" "" "CTSF(NM_003793.3):c.175C>T (p.(Arg59Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014860" "0" "50" "11" "66332035" "66332035" "subst" "0" "02329" "CTSF_000041" "g.66332035C>G" "" "" "" "CTSF(NM_003793.4):c.1315G>C (p.G439R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014861" "0" "50" "11" "66334914" "66334914" "subst" "0" "02329" "CTSF_000042" "g.66334914C>G" "" "" "" "CTSF(NM_003793.4):c.531+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030176" "0" "50" "11" "66331605" "66331605" "subst" "7.0373E-5" "03779" "CTSF_000043" "g.66331605G>A" "" "" "" "" "" "Unknown" "" "rs142523550" "0" "" "" "" "" "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 CTSF ## Count = 49 "{{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}}" "0000249908" "00005869" "10" "1401" "0" "1401" "0" "c.1401T>C" "r.(?)" "p.(Arg467=)" "" "0000249909" "00005869" "10" "219" "0" "219" "0" "c.219T>C" "r.(?)" "p.(Gly73=)" "" "0000250523" "00005869" "90" "594" "0" "594" "0" "c.594T>A" "r.(?)" "p.(Tyr198Ter)" "" "0000251031" "00005869" "10" "4804" "0" "4804" "0" "c.*3349T>C" "r.(=)" "p.(=)" "" "0000253132" "00005869" "10" "1401" "0" "1401" "0" "c.1401T>C" "r.(?)" "p.(Arg467=)" "" "0000253133" "00005869" "10" "219" "0" "219" "0" "c.219T>C" "r.(?)" "p.(Gly73=)" "" "0000268629" "00005869" "30" "1231" "-15" "1231" "-15" "c.1231-15C>T" "r.(=)" "p.(=)" "" "0000268630" "00005869" "10" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Pro42=)" "" "0000268631" "00005869" "90" "215" "0" "215" "0" "c.215del" "r.(?)" "p.(Ala72GlyfsTer76)" "" "0000268632" "00005869" "30" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Ala140Thr)" "" "0000268633" "00005869" "70" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Ter)" "" "0000268634" "00005869" "30" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Cys)" "" "0000268635" "00005869" "30" "683" "0" "683" "0" "c.683C>G" "r.(?)" "p.(Thr228Arg)" "" "0000268636" "00005869" "10" "722" "-5" "722" "-5" "c.722-5C>T" "r.spl?" "p.?" "" "0000268637" "00005869" "10" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Arg254=)" "" "0000268638" "00005869" "90" "792" "0" "792" "0" "c.792del" "r.(?)" "p.(Lys265SerfsTer81)" "" "0000274603" "00005869" "50" "1006" "0" "1006" "0" "c.1006G>T" "r.(?)" "p.(Gly336Cys)" "" "0000274604" "00005869" "10" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Pro42=)" "" "0000274605" "00005869" "50" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Lys450Glu)" "" "0000274606" "00005869" "30" "160" "0" "160" "0" "c.160C>G" "r.(?)" "p.(Arg54Gly)" "" "0000274607" "00005869" "10" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Arg254=)" "" "0000352487" "00005869" "90" "219" "0" "219" "0" "c.219delinsCCCTG" "r.(?)" "p.(Gln74Profs*41)" "2" "0000545138" "00005869" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Asp456=)" "" "0000545139" "00005869" "30" "1231" "-13" "1231" "-13" "c.1231-13T>C" "r.(=)" "p.(=)" "" "0000545140" "00005869" "30" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(Gly313=)" "" "0000545142" "00005869" "50" "683" "0" "683" "0" "c.683C>G" "r.(?)" "p.(Thr228Arg)" "" "0000545143" "00005869" "30" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Cys)" "" "0000545144" "00005869" "30" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Val210Ile)" "" "0000545145" "00005869" "30" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Glu199=)" "" "0000545146" "00005869" "30" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Met)" "" "0000613590" "00005869" "50" "685" "0" "685" "0" "c.685G>C" "r.(?)" "p.(Ala229Pro)" "" "0000613591" "00005869" "30" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Leu11=)" "" "0000622685" "00005869" "30" "1231" "-9" "1231" "-9" "c.1231-9C>T" "r.(=)" "p.(=)" "" "0000648340" "00005869" "30" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Cys)" "" "0000656866" "00005869" "70" "1416" "0" "1416" "0" "c.1416T>G" "r.(?)" "p.(Cys472Trp)" "" "0000656867" "00005869" "30" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "" "0000683460" "00005869" "70" "998" "0" "1004" "0" "c.998_1004delinsACT" "r.(?)" "p.(Cys333Tyrfs*12)" "8" "0000691134" "00005869" "50" "5096" "0" "5096" "0" "c.*3641T>C" "r.(=)" "p.(=)" "" "0000691135" "00005869" "30" "3760" "0" "3760" "0" "c.*2305G>A" "r.(=)" "p.(=)" "" "0000723609" "00005869" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Gly415Arg)" "" "0000723610" "00005869" "30" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Pro88=)" "" "0000805292" "00005869" "30" "607" "6" "607" "6" "c.607+6G>A" "r.(=)" "p.(=)" "" "0000805293" "00005869" "30" "177" "0" "177" "0" "c.177G>A" "r.(?)" "p.(Arg59=)" "" "0000890093" "00005869" "70" "965" "-1" "965" "-1" "c.965-1G>A" "r.spl?" "p.?" "" "0000999331" "00005869" "50" "1391" "0" "1391" "0" "c.1391A>G" "r.(?)" "p.(Tyr464Cys)" "" "0000999332" "00005869" "50" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Arg59Trp)" "" "0001014860" "00005869" "50" "1315" "0" "1315" "0" "c.1315G>C" "r.(?)" "p.(Gly439Arg)" "" "0001014861" "00005869" "50" "531" "1" "531" "1" "c.531+1G>C" "r.spl?" "p.?" "" "0001030176" "00005869" "50" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Pro445Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000153388" "0000352487" "0000291651" "0000648340" "0000309014" "0000683460"