### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TGFB1) # 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}}" "TGFB1" "transforming growth factor, beta 1" "19" "q13.1" "unknown" "NG_013364.1" "UD_132119097342" "" "https://www.LOVD.nl/TGFB1" "" "1" "11766" "7040" "190180" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TGFB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-12-10 14:40:42" "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}}" "00021042" "TGFB1" "transforming growth factor, beta 1" "001" "NM_000660.4" "" "NP_000651.3" "" "" "" "-882" "1318" "1173" "41859831" "41836812" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00128" "CF" "cystic fibrosis (CF)" "AR" "219700" "" "" "" "00006" "2013-05-14 09:22:43" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01305" "CAEND;DPD1" "Camurati-Engelmann disease (CAEND, dysplasia, diaphyseal, progressive type 1 (DPD-1))" "AD" "131300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" "06431" "IBDIMDE" "Inflammatory bowel disease, immunodeficiency, and encephalopathy" "AR" "618213" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TGFB1" "00128" "TGFB1" "01305" "TGFB1" "06431" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00090843" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090844" "" "" "" "5" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090845" "" "" "" "56" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090846" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090847" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090848" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090849" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090850" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00180385" "" "" "" "40" "" "02555" "{PMID:Amirzargar 2012:21640045}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo3249?snp=rs1800471&t=1535420400}" "" "Iranian" "" "00292136" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00433075" "" "" "" "2" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "family, 2 affected" "M" "" "Norway" "" "0" "" "" "" "Pat48,1" "00449845" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00090843" "00000" "00090844" "00000" "00090845" "00091" "00090846" "00091" "00090847" "00091" "00090848" "00091" "00090849" "00091" "00090850" "00091" "00180385" "05467" "00292136" "00198" "00433075" "05292" "00449845" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00128, 00198, 01305, 05292, 05467, 06431 ## Count = 3 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000142780" "05467" "00180385" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000323601" "05292" "00433075" "00006" "Unknown" "55y" "common variable immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000338993" "00198" "00449845" "03544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "CAEND" "Camurati-Engelmann Disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000090988" "00090843" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090989" "00090844" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090990" "00090845" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090991" "00090846" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090992" "00090847" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090993" "00090848" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090994" "00090849" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090995" "00090850" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000181322" "00180385" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000293304" "00292136" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000434506" "00433075" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000451441" "00449845" "1" "03544" "03544" "2024-05-17 09:16:13" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000090988" "TGFB1" "0000090989" "TGFB1" "0000090990" "TGFB1" "0000090991" "TGFB1" "0000090992" "TGFB1" "0000090993" "TGFB1" "0000090994" "TGFB1" "0000090995" "TGFB1" "0000181322" "IL4" ## 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 = 55 "{{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}}" "0000149117" "1" "50" "19" "41838160" "41838160" "subst" "0.00043095" "01816" "TGFB1_000006" "g.41838160C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.41332255C>T" "" "VUS" "" "0000149118" "1" "50" "19" "41847860" "41847860" "subst" "0.0259585" "01816" "TGFB1_000003" "g.41847860G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.41341955G>A" "" "VUS" "" "0000149119" "1" "50" "19" "41847860" "41847860" "subst" "0.0259585" "01816" "TGFB1_000003" "g.41847860G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.41341955G>A" "" "VUS" "" "0000149120" "1" "50" "19" "41847884" "41847884" "subst" "2.43952E-5" "01816" "TGFB1_000004" "g.41847884C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.41341979C>T" "" "VUS" "" "0000149121" "1" "50" "19" "41850682" "41850682" "subst" "2.44391E-5" "01816" "TGFB1_000005" "g.41850682C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.41344777C>T" "" "VUS" "" "0000149122" "1" "50" "19" "41850733" "41850733" "subst" "0.000113186" "01816" "TGFB1_000001" "g.41850733G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.41344828G>A" "" "VUS" "" "0000149123" "1" "90" "19" "41858851" "41858851" "subst" "0" "01816" "chr19_000361" "g.41858851G>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.41352946G>T" "" "pathogenic" "" "0000149124" "1" "50" "19" "41858864" "41858864" "subst" "0.000175146" "01816" "TGFB1_000002" "g.41858864C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.41352959C>G" "" "VUS" "" "0000259224" "0" "10" "19" "41869392" "41869392" "subst" "0.643702" "02325" "B9D2_000002" "g.41869392T>C" "" "" "" "B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41363487T>C" "" "benign" "" "0000263500" "0" "30" "19" "41863821" "41863821" "subst" "0.00203085" "01943" "B9D2_000001" "g.41863821G>A" "" "" "" "B9D2(NM_030578.3):c.195C>T (p.F65=), B9D2(NM_030578.4):c.195C>T (p.F65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41357916G>A" "" "likely benign" "" "0000263501" "0" "10" "19" "41869392" "41869392" "subst" "0.643702" "01943" "B9D2_000002" "g.41869392T>C" "" "" "" "B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41363487T>C" "" "benign" "" "0000311809" "0" "10" "19" "41858921" "41858921" "subst" "0.551655" "02325" "TGFB1_000008" "g.41858921G>A" "" "" "" "TGFB1(NM_000660.7):c.29C>T (p.P10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41353016G>A" "" "benign" "" "0000326520" "0" "50" "19" "41858744" "41858744" "subst" "2.37767E-5" "01804" "TGFB1_000007" "g.41858744G>A" "" "" "" "TGFB1(NM_000660.4):c.206C>T (p.(Pro69Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41352839G>A" "" "VUS" "" "0000338060" "0" "10" "19" "41860587" "41860587" "subst" "0.0625296" "02327" "B9D2_000003" "g.41860587C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41354682C>T" "" "benign" "" "0000344319" "0" "70" "19" "41848114" "41848114" "subst" "0" "02327" "TGFB1_000009" "g.41848114A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41342209A>G" "" "likely pathogenic" "" "0000346559" "0" "10" "19" "41869392" "41869392" "subst" "0.643702" "02327" "B9D2_000002" "g.41869392T>C" "" "" "" "B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41363487T>C" "" "benign" "" "0000348133" "0" "10" "19" "41858921" "41858921" "subst" "0.551655" "02327" "TGFB1_000008" "g.41858921G>A" "" "" "" "TGFB1(NM_000660.7):c.29C>T (p.P10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41353016G>A" "" "benign" "" "0000405018" "0" "50" "19" "41858876" "41858876" "subst" "0.0562517" "02555" "TGFB1_000010" "g.41858876C>G" "40/508 cases" "{PMID:Amirzargar 2012:21640045}" "" "" "{DB:Uveo3249?snp=rs1800471&t=1535420400}" "Germline" "" "rs1800471" "0" "" "" "g.41352971C>G" "" "VUS" "" "0000567431" "0" "10" "19" "41847860" "41847860" "subst" "0.0259585" "01804" "TGFB1_000003" "g.41847860G>A" "" "" "" "TGFB1(NM_000660.4):c.788C>T (p.(Thr263Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41341955G>A" "" "benign" "" "0000567432" "0" "30" "19" "41847944" "41847944" "del" "0" "01804" "TGFB1_000011" "g.41847944del" "" "" "" "TGFB1(NM_000660.4):c.713-8delC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41342039del" "" "likely benign" "" "0000567433" "0" "90" "19" "41854250" "41854250" "subst" "0" "02329" "B9D2_000004" "g.41854250G>A" "" "" "" "TGFB1(NM_000660.7):c.466C>T (p.R156C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41348345G>A" "" "pathogenic" "" "0000567434" "0" "30" "19" "41858876" "41858876" "subst" "0.0562517" "01804" "TGFB1_000010" "g.41858876C>G" "" "" "" "TGFB1(NM_000660.4):c.74G>C (p.(Arg25Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41352971C>G" "" "likely benign" "" "0000649993" "1" "10" "19" "41847860" "41847860" "subst" "0.0259585" "03575" "TGFB1_000003" "g.41847860G>A" "39/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "39 heterozygous, no homozygous; {DB:CLININrs1800472}" "Germline" "" "rs1800472" "0" "" "" "g.41341955G>A" "" "benign" "" "0000658576" "0" "30" "19" "41838160" "41838160" "subst" "0.00043095" "01804" "TGFB1_000006" "g.41838160C>T" "" "" "" "TGFB1(NM_000660.4):c.887G>A (p.(Arg296Gln)), TGFB1(NM_000660.7):c.887G>A (p.R296Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41332255C>T" "" "likely benign" "" "0000658577" "0" "30" "19" "41858602" "41858602" "subst" "0.00289376" "01943" "B9D2_000005" "g.41858602G>A" "" "" "" "TGFB1(NM_000660.6):c.348C>T (p.T116=), TGFB1(NM_000660.7):c.348C>T (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41352697G>A" "" "likely benign" "" "0000692796" "0" "50" "19" "41838160" "41838160" "subst" "0.00043095" "02325" "TGFB1_000006" "g.41838160C>T" "" "" "" "TGFB1(NM_000660.4):c.887G>A (p.(Arg296Gln)), TGFB1(NM_000660.7):c.887G>A (p.R296Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727377" "0" "30" "19" "41858602" "41858602" "subst" "0.00289376" "02326" "B9D2_000005" "g.41858602G>A" "" "" "" "TGFB1(NM_000660.6):c.348C>T (p.T116=), TGFB1(NM_000660.7):c.348C>T (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808881" "0" "50" "19" "41854294" "41854294" "subst" "5.68606E-5" "01943" "B9D2_000010" "g.41854294C>T" "" "" "" "TGFB1(NM_000660.6):c.422G>A (p.R141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808882" "0" "30" "19" "41858590" "41858590" "subst" "0.00213124" "01804" "B9D2_000011" "g.41858590C>T" "" "" "" "TGFB1(NM_000660.4):c.355+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808883" "0" "50" "19" "41860649" "41860649" "subst" "5.69643E-5" "01943" "B9D2_000012" "g.41860649C>A" "" "" "" "B9D2(NM_030578.3):c.484G>T (p.G162C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808884" "0" "50" "19" "41860760" "41860760" "subst" "1.63775E-5" "01943" "B9D2_000013" "g.41860760G>A" "" "" "" "B9D2(NM_030578.3):c.373C>T (p.R125W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808885" "0" "30" "19" "41863821" "41863821" "subst" "0.00203085" "02326" "B9D2_000001" "g.41863821G>A" "" "" "" "B9D2(NM_030578.3):c.195C>T (p.F65=), B9D2(NM_030578.4):c.195C>T (p.F65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855594" "0" "30" "19" "41863937" "41863937" "subst" "1.62843E-5" "01943" "B9D2_000015" "g.41863937G>A" "" "" "" "B9D2(NM_030578.3):c.89-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866137" "0" "30" "19" "41860701" "41860701" "subst" "3.25722E-5" "02326" "B9D2_000014" "g.41860701G>A" "" "" "" "B9D2(NM_030578.4):c.432C>T (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895006" "0" "30" "19" "41838075" "41838075" "subst" "0.000231515" "02326" "TGFB1_000012" "g.41838075C>T" "" "" "" "TGFB1(NM_000660.7):c.972G>A (p.G324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895007" "0" "30" "19" "41838174" "41838174" "subst" "0.00231549" "02326" "TGFB1_000013" "g.41838174C>T" "" "" "" "TGFB1(NM_000660.7):c.873G>A (p.K291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895008" "0" "50" "19" "41858864" "41858864" "subst" "0.000308257" "01804" "B9D2_000016" "g.41858864C>T" "" "" "" "TGFB1(NM_000660.4):c.86G>A (p.(Gly29Glu)), TGFB1(NM_000660.7):c.86G>A (p.G29E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895009" "0" "30" "19" "41858892" "41858892" "subst" "1.51442E-5" "01804" "B9D2_000017" "g.41858892C>G" "" "" "" "TGFB1(NM_000660.4):c.58G>C (p.(Val20Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915233" "0" "30" "19" "41863833" "41863833" "subst" "0.000349287" "02326" "B9D2_000018" "g.41863833G>A" "" "" "" "B9D2(NM_030578.4):c.183C>T (p.I61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915234" "0" "50" "19" "41893466" "41893466" "subst" "6.90751E-5" "02325" "B9D2_000019" "g.41893466G>A" "" "" "" "EXOSC5(NM_020158.4):c.568C>T (p.R190W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920261" "1" "50" "19" "41838037" "41838037" "subst" "4.06309E-6" "00006" "TGFB1_000014" "g.41838037C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "variant in both affecteds" "Germline" "" "" "0" "" "" "g.41332132C>T" "" "VUS" "ACMG" "0000931060" "0" "50" "19" "41848103" "41848103" "subst" "0" "02329" "TGFB1_000015" "g.41848103C>A" "" "" "" "TGFB1(NM_000660.7):c.684G>T (p.R228S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931061" "0" "50" "19" "41858864" "41858864" "subst" "0.000308257" "02325" "B9D2_000016" "g.41858864C>T" "" "" "" "TGFB1(NM_000660.4):c.86G>A (p.(Gly29Glu)), TGFB1(NM_000660.7):c.86G>A (p.G29E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951298" "0" "30" "19" "41860934" "41860934" "subst" "0.00295199" "02326" "B9D2_000020" "g.41860934G>C" "" "" "" "B9D2(NM_030578.4):c.215-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951299" "0" "30" "19" "41889499" "41889499" "subst" "6.09375E-5" "01804" "B9D2_000021" "g.41889499G>A" "" "" "" "TMEM91(NM_001042595.2):c.394G>A (p.(Val132Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985329" "21" "70" "19" "30689286" "30689286" "subst" "0" "03544" "TGFB1_000016" "g.30689286C>A" "" "" "" "" "identified also in asymptomatic patient\'s mother and brother (incomplete penetrance!)" "Germline" "-" "rs104894720" "0" "" "" "g.41342229C>T" "{CV:12529}" "pathogenic (!)" "ACMG" "0001004792" "0" "50" "19" "41838184" "41838184" "subst" "0" "01804" "TGFB1_000017" "g.41838184G>A" "" "" "" "TGFB1(NM_000660.4):c.863C>T (p.(Ser288Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004793" "0" "30" "19" "41847933" "41847933" "subst" "2.44047E-5" "01804" "TGFB1_000018" "g.41847933A>T" "" "" "" "TGFB1(NM_000660.4):c.715T>A (p.(Phe239Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004794" "0" "30" "19" "41848126" "41848126" "subst" "0" "01804" "TGFB1_000019" "g.41848126C>T" "" "" "" "TGFB1(NM_000660.4):c.661G>A (p.(Ala221Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004795" "0" "30" "19" "41854317" "41854317" "subst" "6.90473E-5" "01804" "B9D2_000022" "g.41854317C>T" "" "" "" "TGFB1(NM_000660.4):c.399G>A (p.(Met133Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004796" "0" "70" "19" "41892591" "41892591" "del" "0" "01804" "B9D2_000023" "g.41892591del" "" "" "" "EXOSC5(NM_020158.3):c.655delC (p.(His219fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042978" "0" "30" "19" "41847884" "41847884" "subst" "2.43952E-5" "01804" "TGFB1_000004" "g.41847884C>T" "" "" "" "TGFB1(NM_000660.7):c.764G>A (p.(Arg255Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042979" "0" "50" "19" "41847918" "41847918" "subst" "4.06653E-6" "02325" "TGFB1_000020" "g.41847918G>A" "" "" "" "TGFB1(NM_000660.7):c.730C>T (p.R244*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042980" "0" "50" "19" "41858694" "41858694" "subst" "2.53188E-5" "01804" "B9D2_000024" "g.41858694C>A" "" "" "" "TGFB1(NM_000660.7):c.256G>T (p.(Asp86Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042981" "0" "50" "19" "41858865" "41858865" "subst" "4.99793E-5" "01804" "B9D2_000025" "g.41858865C>T" "" "" "" "TGFB1(NM_000660.7):c.85G>A (p.(Gly29Arg))" "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 TGFB1 ## Count = 55 "{{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}}" "0000149117" "00021042" "00" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296Gln)" "" "0000149118" "00021042" "00" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Ile)" "" "0000149119" "00021042" "00" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Ile)" "" "0000149120" "00021042" "00" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" "" "0000149121" "00021042" "00" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Arg)" "" "0000149122" "00021042" "00" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Trp)" "" "0000149123" "00021042" "90" "99" "0" "99" "0" "c.99C>A" "r.(?)" "p.(Cys33*)" "" "0000149124" "00021042" "00" "86" "0" "86" "0" "c.86G>C" "r.(?)" "p.(Gly29Ala)" "" "0000259224" "00021042" "10" "-10443" "0" "-10443" "0" "c.-10443A>G" "r.(?)" "p.(=)" "" "0000263500" "00021042" "30" "-4872" "0" "-4872" "0" "c.-4872C>T" "r.(?)" "p.(=)" "" "0000263501" "00021042" "10" "-10443" "0" "-10443" "0" "c.-10443A>G" "r.(?)" "p.(=)" "" "0000311809" "00021042" "10" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000326520" "00021042" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "0000338060" "00021042" "10" "-1638" "0" "-1638" "0" "c.-1638G>A" "r.(?)" "p.(=)" "" "0000344319" "00021042" "70" "673" "0" "673" "0" "c.673T>C" "r.(?)" "p.(Cys225Arg)" "" "0000346559" "00021042" "10" "-10443" "0" "-10443" "0" "c.-10443A>G" "r.(?)" "p.(=)" "" "0000348133" "00021042" "10" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000405018" "00021042" "00" "74" "0" "74" "0" "c.74G>C" "r.(?)" "p.(Arg25Pro)" "" "0000567431" "00021042" "10" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Ile)" "" "0000567432" "00021042" "30" "713" "-8" "713" "-8" "c.713-8del" "r.(=)" "p.(=)" "" "0000567433" "00021042" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Cys)" "" "0000567434" "00021042" "30" "74" "0" "74" "0" "c.74G>C" "r.(?)" "p.(Arg25Pro)" "" "0000649993" "00021042" "10" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Ile)" "" "0000658576" "00021042" "30" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296Gln)" "" "0000658577" "00021042" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Thr116=)" "" "0000692796" "00021042" "50" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296Gln)" "" "0000727377" "00021042" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Thr116=)" "" "0000808881" "00021042" "50" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "" "0000808882" "00021042" "30" "355" "5" "355" "5" "c.355+5G>A" "r.spl?" "p.?" "" "0000808883" "00021042" "50" "-1700" "0" "-1700" "0" "c.-1700G>T" "r.(?)" "p.(=)" "" "0000808884" "00021042" "50" "-1811" "0" "-1811" "0" "c.-1811C>T" "r.(?)" "p.(=)" "" "0000808885" "00021042" "30" "-4872" "0" "-4872" "0" "c.-4872C>T" "r.(?)" "p.(=)" "" "0000855594" "00021042" "30" "-4988" "0" "-4988" "0" "c.-4988C>T" "r.(?)" "p.(=)" "" "0000866137" "00021042" "30" "-1752" "0" "-1752" "0" "c.-1752C>T" "r.(?)" "p.(=)" "" "0000895006" "00021042" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Gly324=)" "" "0000895007" "00021042" "30" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Lys291=)" "" "0000895008" "00021042" "50" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Gly29Glu)" "" "0000895009" "00021042" "30" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.(Val20Leu)" "" "0000915233" "00021042" "30" "-4884" "0" "-4884" "0" "c.-4884C>T" "r.(?)" "p.(=)" "" "0000915234" "00021042" "50" "-34517" "0" "-34517" "0" "c.-34517C>T" "r.(?)" "p.(=)" "" "0000920261" "00021042" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Ser337Asn)" "6" "0000931060" "00021042" "50" "684" "0" "684" "0" "c.684G>T" "r.(?)" "p.(Arg228Ser)" "" "0000931061" "00021042" "50" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Gly29Glu)" "" "0000951298" "00021042" "30" "-1985" "0" "-1985" "0" "c.-1985C>G" "r.(?)" "p.(=)" "" "0000951299" "00021042" "30" "-30550" "0" "-30550" "0" "c.-30550C>T" "r.(?)" "p.(=)" "" "0000985329" "00021042" "70" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Tyr494*)" "4" "0001004792" "00021042" "50" "863" "0" "863" "0" "c.863C>T" "r.(?)" "p.(Ser288Phe)" "" "0001004793" "00021042" "30" "715" "0" "715" "0" "c.715T>A" "r.(?)" "p.(Phe239Ile)" "" "0001004794" "00021042" "30" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Ala221Thr)" "" "0001004795" "00021042" "30" "399" "0" "399" "0" "c.399G>A" "r.(?)" "p.(Met133Ile)" "" "0001004796" "00021042" "70" "-33642" "0" "-33642" "0" "c.-33642del" "r.(?)" "p.(=)" "" "0001042978" "00021042" "30" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" "" "0001042979" "00021042" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244*)" "" "0001042980" "00021042" "50" "256" "0" "256" "0" "c.256G>T" "r.(?)" "p.(Asp86Tyr)" "" "0001042981" "00021042" "50" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Gly29Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000090988" "0000149117" "0000090989" "0000149118" "0000090990" "0000149119" "0000090991" "0000149120" "0000090992" "0000149121" "0000090993" "0000149122" "0000090994" "0000149123" "0000090995" "0000149124" "0000181322" "0000405018" "0000293304" "0000649993" "0000434506" "0000920261" "0000451441" "0000985329"

AltStyle によって変換されたページ (->オリジナル) /