### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TGFBR1) # 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}}" "TGFBR1" "transforming growth factor, beta receptor 1" "9" "q22" "unknown" "NG_007461.1" "UD_132118501372" "" "https://www.LOVD.nl/TGFBR1" "" "1" "11772" "7046" "190181" "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/TGFBR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-30 09:34:38" "00000" "2025-07-08 13:22:38" ## 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}}" "00024070" "TGFBR1" "transcript variant 1" "001" "NM_004612.2" "" "NP_004603.1" "" "" "" "-76" "6399" "1512" "101867412" "101916474" "00006" "2015-10-30 13:31:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00884" "LDS" "Loeys-Dietz syndrome (LDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01319" "MSSE" "epithelioma, squamous, multiple self healing (MSSE)" "AD" "132800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02831" "LDS1" "Loeys-Dietz syndrome, type 1 (LDS-1)" "AD" "609192" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TGFBR1" "00884" "TGFBR1" "01319" "TGFBR1" "02831" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00053069" "" "" "" "1" "" "00006" "{PMID:Carmignac 2014:23103230}, {DOI:Carmignac 2014:10.1016/j.ajhg.2012.10.002}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" ">06y" "0" "" "" "" "" "00090851" "" "" "" "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" "" "" "" "00090852" "" "" "" "2" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090853" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090854" "" "" "" "3" "" "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" "" "" "" "00104008" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-167A" "00144417" "" "" "" "3" "" "02338" "" "3 affecteds" "F" "" "Japan" "" "0" "" "David procedure" "Asian" "" "00151836" "" "" "" "1" "" "02375" "" "" "M" "" "Japan" "" "0" "" "" "Asian" "" "00181216" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00235309" "" "" "" "1" "" "02284" "{PMID:Laterza 2019:31326520}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00245208" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "M" "no" "Italy" "07y" "0" "" "" "" "F1, I" "00245211" "" "" "" "2" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "F" "no" "Italy" "31y" "0" "" "" "" "F2, I" "00245212" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "F" "no" "Italy" "29y" "0" "" "" "" "F3, I" "00245213" "" "" "" "2" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "patient has an affected brother carrying the same variant" "M" "no" "Italy" "29y" "0" "" "" "" "F4, I" "00245343" "" "" "" "2" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "M" "no" "Italy" "47y" "0" "" "" "" "F5, I" "00245345" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "F" "no" "Philippines" "17y" "0" "" "" "" "F6, I" "00245346" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "M" "no" "Italy" "23y" "0" "" "" "" "F7, I" "00245347" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "M" "no" "Italy" "17y" "0" "" "" "" "F8, I" "00245348" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "M" "no" "Italy" "43y" "0" "" "" "" "F9, I" "00294693" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295486" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296536" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00300287" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00303326" "" "" "" "2" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P41" "00373331" "" "" "" "2" "" "02284" "Ritelli et al., 2021 submited" "" "F" "no" "Italy" "" "" "" "" "" "P1" "00373332" "" "" "" "1" "" "02284" "Ritelli et al., 2021 submited" "" "F" "no" "Italy" "" "" "" "" "" "P3" "00398117" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat55" "00398118" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat56" "00398119" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat57" "00398202" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat147" "00398203" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat148" "00398204" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat149" "00418534" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatI" "00418535" "" "" "" "2" "" "00006" "{PMID:Almpani 2022:34916229}" "family, proband" "" "" "United States" "" "0" "" "" "" "FamPatIIA" "00418536" "" "" "00418535" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "offspring" "" "" "United States" "" "0" "" "" "" "FamPatIIB" "00418537" "" "" "" "2" "" "00006" "{PMID:Almpani 2022:34916229}" "family, proband" "" "" "United States" "" "0" "" "" "" "FamPatIIIA" "00418538" "" "" "00418537" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "mother" "" "" "United States" "" "0" "" "" "" "FamPatIIIB" "00418539" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatIV" "00418540" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatV" "00418541" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatVI" "00418542" "" "" "" "2" "" "00006" "{PMID:Almpani 2022:34916229}" "family, proband" "" "" "United States" "" "0" "" "" "" "FamPatVIIA" "00418543" "" "" "00418542" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "offspring" "" "" "United States" "" "0" "" "" "" "FamPatVIIB" "00418544" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatVIII" "00418545" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatIX" "00418546" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatX" "00418547" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXI" "00418548" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXII" "00462310" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "CONGE-021" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 48 "{{individualid}}" "{{diseaseid}}" "00053069" "00198" "00090851" "00091" "00090852" "00000" "00090853" "00000" "00090854" "00091" "00104008" "03381" "00144417" "02831" "00151836" "02831" "00181216" "02831" "00235309" "02831" "00245208" "02831" "00245211" "02831" "00245212" "02831" "00245213" "02831" "00245343" "02831" "00245345" "02831" "00245346" "02831" "00245347" "02831" "00245348" "02831" "00294693" "00198" "00295486" "00198" "00296536" "00198" "00300287" "00198" "00303326" "00884" "00373331" "02831" "00373332" "02831" "00398117" "00198" "00398118" "00198" "00398119" "00198" "00398202" "00198" "00398203" "00198" "00398204" "00198" "00418534" "00884" "00418535" "00884" "00418536" "00884" "00418537" "00884" "00418538" "00884" "00418539" "00884" "00418540" "00884" "00418541" "00884" "00418542" "00884" "00418543" "00884" "00418544" "00884" "00418545" "00884" "00418546" "00884" "00418547" "00884" "00418548" "00884" "00462310" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00884, 01319, 02831, 03381 ## Count = 40 "{{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}}" "0000039794" "00198" "00053069" "00006" "Isolated (sporadic)" "06y" "non-SGS Marfanoid-craniosynostosis; craniosynostosis, arachnodactyly, no pectus deformity, scoliosis, no joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, no intellectual disability, hernias, no loss of subcutaneous fat, valvular anomalies, aortic root dilatation required surgery in childhood, myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081942" "03381" "00104008" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117188" "02831" "00144417" "02338" "Familial, autosomal dominant" "" "Pectus excavatum (HP:0000767), long fingers (HP:0100807), scoliosis (HP:0002650), high palate (HP:0000218), dural ectasia (HP:0100775), ascending aortic aneurysm (HP:0002631), carotid artery tortuosity (HP:0005302), no ectopia lentis (-HP:0001083), no hypertelorism (-HP:0000316), no bifid uvula (-HP:0000193)" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124328" "02831" "00151836" "02375" "Isolated (sporadic)" "" "Pectus excavatum (HP:0000767), long fingers (HP:0100807), scoliosis (HP:0002650), dural ectasia (HP:0100775), ascending aortic aneurysm (HP:0002631), hypertelorism (HP:0000316), bifid uvula (HP:0000193), Arterial tortuosity (HP:0005116), Tall stature (HP:0000098), Mitral valve prolapse (HP:0001634), no ectopia lentis (-HP:0001083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185178" "02831" "00245208" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185180" "02831" "00245211" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185181" "02831" "00245212" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185183" "02831" "00245213" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185292" "02831" "00245343" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185294" "02831" "00245345" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185295" "02831" "00245346" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185296" "02831" "00245347" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185297" "02831" "00245348" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223943" "00198" "00296536" "01164" "Unknown" "" "Abnormality of skeletal morphology (HP:0011842); Joint hypermobility (HP:0001382); Abnormality of central retinal artery (HP:3000032); Abnormality of ophthalmic artery (HP:0410006)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227595" "00198" "00300287" "01807" "Unknown" "" "Cleft palate (HP:0000175); Microretrognathia (HP:0000308); Muscular hypotonia (HP:0001252); Feeding difficulties (HP:0011968)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230403" "00884" "00303326" "02958" "Familial, autosomal dominant" "16y" "Aortic root dilatation (HP:0002616), Mitral valve prolapse (HP: 0001634), Scoliosis (HP:0002650)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000268607" "02831" "00373331" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268608" "02831" "00373332" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000291227" "00198" "00398117" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291228" "00198" "00398118" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291229" "00198" "00398119" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291312" "00198" "00398202" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291313" "00198" "00398203" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291314" "00198" "00398204" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000309871" "00884" "00418534" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309872" "00884" "00418535" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309873" "00884" "00418536" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309874" "00884" "00418537" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309875" "00884" "00418538" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309876" "00884" "00418539" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309877" "00884" "00418540" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309878" "00884" "00418541" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309879" "00884" "00418542" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309880" "00884" "00418543" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309881" "00884" "00418544" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309882" "00884" "00418545" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309883" "00884" "00418546" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309884" "00884" "00418547" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000309885" "00884" "00418548" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS1" "Loeys-Dietz syndrome" "" "0000349809" "00198" "00462310" "00006" "Isolated (sporadic)" "" "25gw-heart defects, posterior cleft palate with microretrognathia, clubfeet" "" "" "" "" "" "" "" "" "" "" "" "" "multiple neonatal malformations" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000053017" "00053069" "1" "00006" "00006" "2015-10-30 13:38:52" "" "" "SEQ" "DNA" "" "" "0000090996" "00090851" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090997" "00090852" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090998" "00090853" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090999" "00090854" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000104479" "00104008" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000145277" "00144417" "1" "02338" "02338" "2017-12-12 08:04:44" "00006" "2017-12-15 12:05:07" "RT-PCR;SEQ" "DNA;RNA" "blood cells" "" "0000152693" "00151836" "1" "02375" "02375" "2018-01-27 06:08:52" "" "" "SEQ" "DNA" "Blood cells" "" "0000182174" "00181216" "1" "01741" "01741" "2018-10-05 11:33:35" "" "" "SEQ-NG" "DNA" "" "" "0000236413" "00235309" "1" "02284" "02284" "2019-05-20 11:00:13" "" "" "SEQ" "DNA" "" "" "0000246320" "00245208" "1" "02284" "02284" "2019-07-02 16:21:54" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246323" "00245211" "1" "02284" "02284" "2019-07-02 17:18:13" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246324" "00245212" "1" "02284" "02284" "2019-07-02 17:29:52" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246325" "00245213" "1" "02284" "02284" "2019-07-02 17:38:59" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246455" "00245343" "1" "02284" "02284" "2019-07-03 10:33:04" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246457" "00245345" "1" "02284" "02284" "2019-07-03 11:02:26" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246458" "00245346" "1" "02284" "02284" "2019-07-03 11:14:49" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246459" "00245347" "1" "02284" "02284" "2019-07-03 11:22:16" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246460" "00245348" "1" "02284" "02284" "2019-07-03 11:51:04" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000295861" "00294693" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296654" "00295486" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297646" "00296536" "1" "01164" "01164" "2020-04-08 09:46:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301406" "00300287" "1" "01807" "01807" "2020-04-28 10:13:01" "" "" "SEQ" "DNA" "" "" "0000304451" "00303326" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000374565" "00373331" "1" "02284" "02284" "2021-05-13 12:07:52" "" "" "PCR;SEQ" "protein" "Blood" "" "0000374566" "00373332" "1" "02284" "02284" "2021-05-13 12:20:23" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000399360" "00398117" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399361" "00398118" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399362" "00398119" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399445" "00398202" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399446" "00398203" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399447" "00398204" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000419829" "00418534" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419830" "00418535" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419831" "00418536" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419832" "00418537" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419833" "00418538" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419834" "00418539" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419835" "00418540" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419836" "00418541" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419837" "00418542" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419838" "00418543" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419839" "00418544" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419840" "00418545" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419841" "00418546" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419842" "00418547" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419843" "00418548" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000463942" "00462310" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 97 "{{screeningid}}" "{{geneid}}" "0000053017" "TGFBR1" "0000090996" "TGFBR1" "0000090997" "TGFBR1" "0000090998" "TGFBR1" "0000090999" "TGFBR1" "0000145277" "TGFBR1" "0000152693" "ACTA2" "0000152693" "FBN2" "0000152693" "MYH11" "0000152693" "SMAD3" "0000152693" "TGFB2" "0000152693" "TGFB3" "0000152693" "TGFBR1" "0000152693" "TGFBR2" "0000182174" "ACTA2" "0000182174" "COL3A1" "0000182174" "FBN1" "0000182174" "MYH11" "0000182174" "MYLK" "0000182174" "SMAD3" "0000182174" "TGFB2" "0000182174" "TGFBR1" "0000182174" "TGFBR2" "0000236413" "SMAD2" "0000236413" "SMAD3" "0000236413" "TGFB2" "0000236413" "TGFB3" "0000236413" "TGFBR1" "0000236413" "TGFBR2" "0000246320" "SMAD3" "0000246320" "TGFB2" "0000246320" "TGFB3" "0000246320" "TGFBR1" "0000246320" "TGFBR2" "0000246323" "SMAD3" "0000246323" "TGFB2" "0000246323" "TGFB3" "0000246323" "TGFBR1" "0000246323" "TGFBR2" "0000246324" "SMAD3" "0000246324" "TGFB2" "0000246324" "TGFB3" "0000246324" "TGFBR1" "0000246324" "TGFBR2" "0000246325" "SMAD3" "0000246325" "TGFB2" "0000246325" "TGFB3" "0000246325" "TGFBR1" "0000246325" "TGFBR2" "0000246455" "SMAD3" "0000246455" "TGFB2" "0000246455" "TGFB3" "0000246455" "TGFBR1" "0000246455" "TGFBR2" "0000246457" "SMAD3" "0000246457" "TGFB2" "0000246457" "TGFB3" "0000246457" "TGFBR1" "0000246457" "TGFBR2" "0000246458" "SMAD3" "0000246458" "TGFB2" "0000246458" "TGFB3" "0000246458" "TGFBR1" "0000246458" "TGFBR2" "0000246459" "SMAD3" "0000246459" "TGFB2" "0000246459" "TGFB3" "0000246459" "TGFBR1" "0000246459" "TGFBR2" "0000246460" "SMAD3" "0000246460" "TGFB2" "0000246460" "TGFB3" "0000246460" "TGFBR1" "0000246460" "TGFBR2" "0000374565" "TGFBR1" "0000374566" "TGFBR1" "0000399360" "TGFBR1" "0000399361" "TGFBR1" "0000399362" "TGFBR1" "0000399445" "TGFBR1" "0000399446" "TGFBR1" "0000399447" "TGFBR1" "0000419829" "TGFBR1" "0000419830" "TGFBR1" "0000419831" "TGFBR1" "0000419832" "TGFBR1" "0000419833" "TGFBR1" "0000419834" "TGFBR1" "0000419835" "TGFBR1" "0000419836" "TGFBR1" "0000419837" "TGFBR1" "0000419838" "TGFBR1" "0000419839" "TGFBR1" "0000419840" "TGFBR1" "0000419841" "TGFBR1" "0000419842" "TGFBR1" "0000419843" "TGFBR1" ## 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 = 163 "{{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}}" "0000082949" "0" "90" "9" "101900300" "101900300" "subst" "0" "00006" "TGFBR1_000001" "g.101900300A>G" "" "{PMID:Carmignac 2014:23103230}, {DOI:Carmignac 2014:10.1016/j.ajhg.2012.10.002}" "" "Glu245Gly" "" "De novo" "-" "" "0" "" "" "g.99138018A>G" "" "pathogenic" "" "0000149125" "1" "50" "9" "101894862" "101894862" "subst" "0.000252225" "01816" "TGFBR1_000002" "g.101894862A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.99132580A>G" "" "VUS" "" "0000149126" "1" "50" "9" "101894904" "101894904" "subst" "0.00103323" "01816" "TGFBR1_000003" "g.101894904G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.99132622G>A" "" "VUS" "" "0000149127" "1" "90" "9" "101908873" "101908873" "subst" "0" "01816" "TGFBR1_000004" "g.101908873C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.99146591C>T" "" "pathogenic" "" "0000149128" "1" "50" "9" "101911508" "101911508" "subst" "0.000285395" "01816" "TGFBR1_000005" "g.101911508A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.99149226A>G" "" "VUS" "" "0000169328" "0" "70" "9" "101867557" "101867565" "del" "0" "00587" "TGFBR1_000006" "g.101867557_101867565del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_004612.2(TGFBR1):c.70_78del p.(Ala24_Ala26del)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.99105275_99105283del" "" "likely pathogenic" "" "0000236376" "20" "90" "9" "101904986" "101904986" "subst" "0" "02338" "TGFBR1_000007" "g.101904986G>A" "" "" "" "42575G>A" "" "Germline" "yes" "" "0" "" "" "g.99142704G>A" "" "pathogenic" "" "0000250220" "0" "10" "9" "101911656" "101911656" "subst" "0" "02329" "TGFBR1_000033" "g.101911656A>G" "" "" "" "TGFBR1(NM_004612.4):c.*69A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99149374A>G" "" "benign" "" "0000250294" "0" "30" "9" "101911572" "101911572" "subst" "3.25428E-5" "02329" "TGFBR1_000031" "g.101911572A>G" "" "" "" "TGFBR1(NM_001306210.1):c.1509A>G (p.E503=), TGFBR1(NM_004612.4):c.1497A>G (p.E499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99149290A>G" "" "likely benign" "" "0000250498" "0" "70" "9" "101907052" "101907052" "subst" "0" "02329" "TGFBR1_000037" "g.101907052A>G" "" "" "" "TGFBR1(NM_004612.4):c.1012A>G (p.N338D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99144770A>G" "" "likely pathogenic" "" "0000250845" "0" "30" "9" "101911508" "101911508" "subst" "0.000285395" "02326" "TGFBR1_000005" "g.101911508A>G" "" "" "" "TGFBR1(NM_001130916.1):c.1202A>G (p.(Asn401Ser)), TGFBR1(NM_001306210.2):c.1445A>G (p.N482S), TGFBR1(NM_004612.3):c.1433A>G (p.N478S), TGFBR1(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99149226A>G" "" "likely benign" "" "0000255000" "0" "30" "9" "101907048" "101907048" "subst" "0" "01943" "TGFBR1_000036" "g.101907048A>C" "" "" "" "TGFBR1(NM_004612.3):c.1008A>C (p.S336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99144766A>C" "" "likely benign" "" "0000255086" "0" "30" "9" "101907165" "101907165" "subst" "0.00397032" "01943" "TGFBR1_000024" "g.101907165A>C" "" "" "" "TGFBR1(NM_001130916.1):c.894A>C (p.(Thr298=)), TGFBR1(NM_004612.3):c.1125A>C (p.T375=), TGFBR1(NM_004612.4):c.1125A>C (p.T375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99144883A>C" "" "likely benign" "" "0000255787" "0" "50" "9" "101911508" "101911508" "subst" "0.000285395" "01943" "TGFBR1_000005" "g.101911508A>G" "" "" "" "TGFBR1(NM_001130916.1):c.1202A>G (p.(Asn401Ser)), TGFBR1(NM_001306210.2):c.1445A>G (p.N482S), TGFBR1(NM_004612.3):c.1433A>G (p.N478S), TGFBR1(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99149226A>G" "" "VUS" "" "0000256112" "0" "50" "9" "101891253" "101891253" "subst" "0.000211657" "01943" "TGFBR1_000014" "g.101891253A>T" "" "" "" "TGFBR1(NM_001130916.1):c.214A>T (p.(Ile72Leu)), TGFBR1(NM_001306210.1):c.214A>T (p.I72L), TGFBR1(NM_004612.3):c.214A>T (p.I72L), TGFBR1(NM_004612....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99128971A>T" "" "VUS" "" "0000311814" "0" "30" "9" "101867498" "101867498" "subst" "0" "02325" "TGFBR1_000008" "g.101867498C>T" "" "" "" "TGFBR1(NM_004612.4):c.11C>T (p.A4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99105216C>T" "" "likely benign" "" "0000313296" "0" "90" "9" "101907091" "101907091" "subst" "0" "02329" "TGFBR1_000022" "g.101907091G>T" "" "" "" "TGFBR1(NM_004612.4):c.1051G>T (p.D351Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99144809G>T" "" "pathogenic" "" "0000313297" "0" "90" "9" "101907153" "101907154" "del" "0" "02329" "TGFBR1_000023" "g.101907153_101907154del" "" "" "" "TGFBR1(NM_004612.4):c.1113_1114delCA (p.H371Qfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99144871_99144872del" "" "pathogenic" "" "0000313298" "0" "10" "9" "101908915" "101908915" "subst" "0.2194" "02329" "TGFBR1_000028" "g.101908915G>A" "" "" "" "TGFBR1(NM_004612.3):c.1255+24G>A, TGFBR1(NM_004612.4):c.1255+24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99146633G>A" "" "benign" "" "0000313299" "0" "30" "9" "101894904" "101894904" "subst" "0.00103323" "02329" "TGFBR1_000003" "g.101894904G>A" "" "" "" "TGFBR1(NM_004612.3):c.457G>A (p.V153I), TGFBR1(NM_004612.4):c.457G>A (p.V153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99132622G>A" "" "likely benign" "" "0000313300" "0" "30" "9" "101894975" "101894975" "subst" "0.000199427" "02329" "TGFBR1_000016" "g.101894975G>A" "" "" "" "TGFBR1(NM_001306210.1):c.540G>A (p.T180=), TGFBR1(NM_004612.4):c.528G>A (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99132693G>A" "" "likely benign" "" "0000313301" "0" "70" "9" "101900214" "101900214" "subst" "0" "02329" "TGFBR1_000019" "g.101900214T>G" "" "" "" "TGFBR1(NM_004612.4):c.648T>G (p.F216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99137932T>G" "" "likely pathogenic" "" "0000313302" "0" "10" "9" "101867557" "101867565" "del" "0" "02329" "TGFBR1_000010" "g.101867557_101867565del" "" "" "" "TGFBR1(NM_001130916.1):c.51_59del (p.(Ala24_Ala26del)), TGFBR1(NM_004612.4):c.70_78delGCGGCGGCG (p.A24_A26del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99105275_99105283del" "" "benign" "" "0000314509" "0" "30" "9" "101894975" "101894975" "subst" "0.000199427" "02326" "TGFBR1_000016" "g.101894975G>A" "" "" "" "TGFBR1(NM_001306210.1):c.540G>A (p.T180=), TGFBR1(NM_004612.4):c.528G>A (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99132693G>A" "" "likely benign" "" "0000314510" "0" "70" "9" "101900171" "101900171" "subst" "0" "02326" "TGFBR1_000018" "g.101900171C>T" "" "" "" "TGFBR1(NM_004612.4):c.605C>T (p.A202V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99137889C>T" "" "likely pathogenic" "" "0000316518" "0" "30" "9" "101908788" "101908788" "subst" "0.000642344" "01943" "TGFBR1_000025" "g.101908788C>T" "" "" "" "TGFBR1(NM_004612.3):c.1152C>T (p.L384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99146506C>T" "" "likely benign" "" "0000316519" "0" "90" "9" "101908876" "101908876" "subst" "0" "01943" "TGFBR1_000027" "g.101908876C>T" "" "" "" "TGFBR1(NM_004612.3):c.1240C>T (p.R414*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99146594C>T" "" "pathogenic" "" "0000316520" "0" "10" "9" "101908915" "101908915" "subst" "0.2194" "01943" "TGFBR1_000028" "g.101908915G>A" "" "" "" "TGFBR1(NM_004612.3):c.1255+24G>A, TGFBR1(NM_004612.4):c.1255+24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99146633G>A" "" "benign" "" "0000316522" "0" "10" "9" "101910156" "101910160" "del" "0" "01943" "TGFBR1_000030" "g.101910156_101910160del" "" "" "" "TGFBR1(NM_004612.3):c.1386+90_1386+94delTCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99147874_99147878del" "" "benign" "" "0000316523" "0" "50" "9" "101891182" "101891182" "subst" "0" "01943" "TGFBR1_000013" "g.101891182G>A" "" "" "" "TGFBR1(NM_001306210.1):c.143G>A (p.C48Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99128900G>A" "" "VUS" "" "0000316524" "0" "30" "9" "101911583" "101911583" "subst" "0" "01943" "TGFBR1_000032" "g.101911583T>C" "" "" "" "TGFBR1(NM_004612.3):c.1508T>C (p.M503T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99149301T>C" "" "likely benign" "" "0000316525" "0" "30" "9" "101867502" "101867502" "subst" "0" "01943" "TGFBR1_000009" "g.101867502C>T" "" "" "" "TGFBR1(NM_004612.3):c.15C>T (p.V5=), TGFBR1(NM_004612.4):c.15C>T (p.V5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99105220C>T" "" "likely benign" "" "0000316526" "0" "90" "9" "101891383" "101891383" "subst" "4.0838E-6" "01943" "TGFBR1_000015" "g.101891383G>A" "" "" "" "TGFBR1(NM_004612.3):c.343+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99129101G>A" "" "pathogenic" "" "0000316527" "0" "30" "9" "101894904" "101894904" "subst" "0.00103323" "01943" "TGFBR1_000003" "g.101894904G>A" "" "" "" "TGFBR1(NM_004612.3):c.457G>A (p.V153I), TGFBR1(NM_004612.4):c.457G>A (p.V153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99132622G>A" "" "likely benign" "" "0000316528" "0" "30" "9" "101904795" "101904795" "subst" "1.62633E-5" "01943" "TGFBR1_000020" "g.101904795G>A" "" "" "" "TGFBR1(NM_004612.3):c.806-23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99142513G>A" "" "likely benign" "" "0000316529" "0" "30" "9" "101904939" "101904939" "subst" "0" "01943" "TGFBR1_000021" "g.101904939G>C" "" "" "" "TGFBR1(NM_004612.3):c.927G>C (p.T309=), TGFBR1(NM_004612.4):c.927G>C (p.T309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99142657G>C" "" "likely benign" "" "0000316530" "0" "10" "9" "101891071" "101891071" "subst" "0" "01943" "TGFBR1_000012" "g.101891071T>C" "" "" "" "TGFBR1(NM_004612.3):c.98-66T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99128789T>C" "" "benign" "" "0000332715" "0" "50" "9" "101867557" "101867565" "del" "0" "01804" "TGFBR1_000010" "g.101867557_101867565del" "" "" "" "TGFBR1(NM_001130916.1):c.51_59del (p.(Ala24_Ala26del)), TGFBR1(NM_004612.4):c.70_78delGCGGCGGCG (p.A24_A26del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99105275_99105283del" "" "VUS" "" "0000332716" "0" "50" "9" "101895003" "101895003" "subst" "0" "01804" "TGFBR1_000017" "g.101895003A>G" "" "" "" "TGFBR1(NM_001130916.1):c.343+3621A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99132721A>G" "" "VUS" "" "0000332717" "0" "50" "9" "101908841" "101908841" "subst" "8.13213E-6" "01804" "TGFBR1_000026" "g.101908841A>G" "" "" "" "TGFBR1(NM_001130916.1):c.974A>G (p.(Tyr325Cys)), TGFBR1(NM_001306210.1):c.1217A>G (p.Y406C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99146559A>G" "" "VUS" "" "0000342015" "0" "90" "9" "101894916" "101894916" "subst" "0" "02327" "TGFBR1_000034" "g.101894916C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99132634C>T" "" "pathogenic" "" "0000351528" "0" "90" "9" "101907166" "101907166" "subst" "0" "02375" "TGFBR1_000035" "g.101907166A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.99144884A>G" "" "pathogenic" "" "0000406051" "0" "50" "9" "101900354" "101900354" "subst" "0" "01741" "TGFBR1_000038" "g.101900354T>C" "" "" "" "" "this variant has pathogenic tendency" "Germline/De novo (untested)" "" "" "0" "" "" "g.99138072T>C" "" "VUS" "" "0000480117" "0" "90" "9" "101908861" "101908861" "subst" "0" "02284" "TGFBR1_000039" "g.101908861T>G" "" "{PMID:Laterza 2019:31326520}" "" "" "" "Germline" "?" "" "0" "" "" "g.99146579T>G" "" "likely pathogenic" "ACMG" "0000498906" "0" "90" "9" "101908835" "101908835" "subst" "0" "02284" "TGFBR1_000040" "g.101908835A>G" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "This is a sporadic patient (de novo mutation verified)." "De novo" "" "rs121918711" "0" "" "" "g.99146553A>G" "{CV-RCV:000013346.24}" "pathogenic (dominant)" "ACMG" "0000498909" "0" "90" "9" "101907160" "101907160" "subst" "0" "02284" "TGFBR1_000041" "g.101907160G>A" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "The patient has an affected sister carrying the same variant." "Germline" "yes" "" "0" "" "" "g.99144878G>A" "" "pathogenic (dominant)" "ACMG" "0000498911" "0" "90" "9" "101907092" "101907092" "subst" "0" "02284" "TGFBR1_000046" "g.101907092A>T" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "This is a sporadic patient (de novo mutation verified)" "De novo" "?" "" "0" "" "" "g.99144810A>T" "" "pathogenic (dominant)" "ACMG" "0000498912" "0" "90" "9" "101904824" "101904824" "subst" "0" "02284" "TGFBR1_000045" "g.101904824G>A" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "yes" "" "0" "" "" "g.99142542G>A" "" "pathogenic (dominant)" "ACMG" "0000499180" "0" "90" "9" "101900271" "101900273" "del" "0" "02284" "TGFBR1_000044" "g.101900271_101900273del" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "This patient has an affected daugther carrying the same variant." "Germline" "yes" "rs863223830" "0" "" "" "g.99137989_99137991del" "{CV-RCV:000618279.1}" "pathogenic (dominant)" "ACMG" "0000499182" "0" "90" "9" "101900216" "101900216" "subst" "0" "02284" "TGFBR1_000042" "g.101900216G>T" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "" "" "0" "" "" "g.99137934G>T" "" "pathogenic (dominant)" "ACMG" "0000499183" "0" "90" "9" "101907097" "101907097" "subst" "0" "02284" "TGFBR1_000048" "g.101907097G>C" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "This is a sporadic patient (de novo mutation verified)." "De novo" "" "" "0" "" "" "g.99144815G>C" "" "pathogenic (dominant)" "ACMG" "0000499184" "0" "90" "9" "101911535" "101911535" "subst" "0" "02284" "TGFBR1_000047" "g.101911535G>A" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "This is a sporadic patient (de novo mutation verified)." "De novo" "" "rs113605875" "0" "" "" "g.99149253G>A" "{CV-RCV:000013351.27}" "pathogenic (dominant)" "ACMG" "0000499185" "0" "90" "9" "101900259" "101900265" "del" "0" "02284" "TGFBR1_000043" "g.101900259_101900265delinsC" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "" "" "0" "" "" "g.99137977_99137983delinsC" "" "pathogenic (dominant)" "ACMG" "0000535593" "0" "10" "9" "101867563" "101867565" "del" "0" "02329" "TGFBR1_000050" "g.101867563_101867565del" "" "" "" "TGFBR1(NM_001130916.1):c.57_59del (p.(Ala26del)), TGFBR1(NM_004612.4):c.76_78delGCG (p.A26del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99105281_99105283del" "" "benign" "" "0000535594" "0" "30" "9" "101867563" "101867565" "dup" "0" "02329" "TGFBR1_000051" "g.101867563_101867565dup" "" "" "" "TGFBR1(NM_004612.4):c.76_78dupGCG (p.A26dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99105281_99105283dup" "" "likely benign" "" "0000535595" "0" "30" "9" "101867579" "101867579" "subst" "0" "01804" "TGFBR1_000052" "g.101867579C>A" "" "" "" "TGFBR1(NM_001130916.1):c.92C>A (p.(Ala31Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99105297C>A" "" "likely benign" "" "0000535596" "0" "50" "9" "101891070" "101891070" "dup" "0" "01943" "TGFBR1_000053" "g.101891070dup" "" "" "" "TGFBR1(NM_004612.3):c.98-67dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99128788dup" "" "VUS" "" "0000535597" "0" "30" "9" "101891159" "101891159" "subst" "9.35903E-5" "01943" "TGFBR1_000054" "g.101891159C>T" "" "" "" "TGFBR1(NM_001306210.1):c.120C>T (p.L40=), TGFBR1(NM_004612.4):c.120C>T (p.L40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99128877C>T" "" "likely benign" "" "0000535598" "0" "50" "9" "101891160" "101891160" "subst" "0" "01943" "TGFBR1_000055" "g.101891160T>A" "" "" "" "TGFBR1(NM_001306210.1):c.121T>A (p.C41S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99128878T>A" "" "VUS" "" "0000535599" "0" "50" "9" "101891173" "101891173" "subst" "8.13802E-6" "02329" "TGFBR1_000056" "g.101891173A>G" "" "" "" "TGFBR1(NM_004612.4):c.134A>G (p.N45S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99128891A>G" "" "VUS" "" "0000535600" "0" "50" "9" "101891246" "101891246" "subst" "0.000175043" "01943" "TGFBR1_000057" "g.101891246C>T" "" "" "" "TGFBR1(NM_004612.3):c.207C>T (p.S69=), TGFBR1(NM_004612.4):c.207C>T (p.S69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99128964C>T" "" "VUS" "" "0000535601" "0" "30" "9" "101891246" "101891246" "subst" "0.000175043" "02329" "TGFBR1_000057" "g.101891246C>T" "" "" "" "TGFBR1(NM_004612.3):c.207C>T (p.S69=), TGFBR1(NM_004612.4):c.207C>T (p.S69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99128964C>T" "" "likely benign" "" "0000535602" "0" "30" "9" "101891253" "101891253" "subst" "0.000211657" "01804" "TGFBR1_000014" "g.101891253A>T" "" "" "" "TGFBR1(NM_001130916.1):c.214A>T (p.(Ile72Leu)), TGFBR1(NM_001306210.1):c.214A>T (p.I72L), TGFBR1(NM_004612.3):c.214A>T (p.I72L), TGFBR1(NM_004612....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99128971A>T" "" "likely benign" "" "0000535603" "0" "50" "9" "101894898" "101894898" "subst" "0" "01943" "TGFBR1_000058" "g.101894898C>T" "" "" "" "TGFBR1(NM_001306210.1):c.463C>T (p.R155C), TGFBR1(NM_004612.4):c.451C>T (p.(Arg151Cys), p.R151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99132616C>T" "" "VUS" "" "0000535604" "0" "50" "9" "101894955" "101894955" "subst" "0" "02329" "TGFBR1_000059" "g.101894955T>G" "" "" "" "TGFBR1(NM_004612.4):c.508T>G (p.F170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99132673T>G" "" "VUS" "" "0000535605" "0" "30" "9" "101894975" "101894975" "subst" "0.000199427" "01943" "TGFBR1_000016" "g.101894975G>A" "" "" "" "TGFBR1(NM_001306210.1):c.540G>A (p.T180=), TGFBR1(NM_004612.4):c.528G>A (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99132693G>A" "" "likely benign" "" "0000535606" "0" "70" "9" "101900288" "101900288" "subst" "0" "02326" "TGFBR1_000060" "g.101900288C>T" "" "" "" "TGFBR1(NM_004612.4):c.722C>T (p.S241L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99138006C>T" "" "likely pathogenic" "" "0000535607" "0" "50" "9" "101900356" "101900356" "subst" "0" "02329" "TGFBR1_000061" "g.101900356G>A" "" "" "" "TGFBR1(NM_004612.4):c.790G>A (p.A264T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99138074G>A" "" "VUS" "" "0000535608" "0" "30" "9" "101904822" "101904822" "subst" "5.28391E-5" "02326" "TGFBR1_000062" "g.101904822T>C" "" "" "" "TGFBR1(NM_004612.4):c.810T>C (p.N270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99142540T>C" "" "likely benign" "" "0000535609" "0" "50" "9" "101904918" "101904918" "subst" "0" "01804" "TGFBR1_000063" "g.101904918G>C" "" "" "" "TGFBR1(NM_001130916.1):c.675G>C (p.(Met225Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99142636G>C" "" "VUS" "" "0000535610" "0" "50" "9" "101904935" "101904935" "subst" "0" "02329" "TGFBR1_000064" "g.101904935C>T" "" "" "" "TGFBR1(NM_004612.4):c.923C>T (p.S308F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99142653C>T" "" "VUS" "" "0000535611" "0" "30" "9" "101904939" "101904939" "subst" "0" "02326" "TGFBR1_000021" "g.101904939G>C" "" "" "" "TGFBR1(NM_004612.3):c.927G>C (p.T309=), TGFBR1(NM_004612.4):c.927G>C (p.T309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99142657G>C" "" "likely benign" "" "0000535612" "0" "50" "9" "101904970" "101904970" "subst" "0" "02329" "TGFBR1_000065" "g.101904970A>G" "" "" "" "TGFBR1(NM_004612.4):c.958A>G (p.I320V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99142688A>G" "" "VUS" "" "0000535613" "0" "50" "9" "101904973" "101904973" "subst" "0" "02325" "TGFBR1_000066" "g.101904973G>A" "" "" "" "TGFBR1(NM_004612.4):c.961G>A (p.V321I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99142691G>A" "" "VUS" "" "0000535614" "0" "50" "9" "101907062" "101907062" "subst" "0" "01943" "TGFBR1_000067" "g.101907062T>C" "" "" "" "TGFBR1(NM_001306210.1):c.1034T>C (p.V345A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99144780T>C" "" "VUS" "" "0000535616" "0" "70" "9" "101908893" "101908893" "subst" "0" "02329" "TGFBR1_000068" "g.101908893T>C" "" "" "" "TGFBR1(NM_004612.4):c.1255+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99146611T>C" "" "likely pathogenic" "" "0000535617" "0" "10" "9" "101909827" "101909827" "dup" "0" "01943" "TGFBR1_000069" "g.101909827dup" "" "" "" "TGFBR1(NM_004612.3):c.1256-109dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99147545dup" "" "benign" "" "0000535619" "0" "30" "9" "101911448" "101911448" "dup" "0" "02329" "TGFBR1_000071" "g.101911448dup" "" "" "" "TGFBR1(NM_004612.4):c.1387-14dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99149166dup" "" "likely benign" "" "0000535620" "0" "50" "9" "101911508" "101911508" "subst" "0.000285395" "01804" "TGFBR1_000005" "g.101911508A>G" "" "" "" "TGFBR1(NM_001130916.1):c.1202A>G (p.(Asn401Ser)), TGFBR1(NM_001306210.2):c.1445A>G (p.N482S), TGFBR1(NM_004612.3):c.1433A>G (p.N478S), TGFBR1(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99149226A>G" "" "VUS" "" "0000535621" "0" "30" "9" "101911508" "101911508" "subst" "0.000285395" "02329" "TGFBR1_000005" "g.101911508A>G" "" "" "" "TGFBR1(NM_001130916.1):c.1202A>G (p.(Asn401Ser)), TGFBR1(NM_001306210.2):c.1445A>G (p.N482S), TGFBR1(NM_004612.3):c.1433A>G (p.N478S), TGFBR1(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99149226A>G" "" "likely benign" "" "0000535622" "0" "90" "9" "101911535" "101911535" "subst" "0" "02329" "TGFBR1_000047" "g.101911535G>A" "" "" "" "TGFBR1(NM_004612.4):c.1460G>A (p.R487Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99149253G>A" "" "pathogenic" "" "0000535623" "0" "30" "9" "101911572" "101911572" "subst" "3.25428E-5" "01943" "TGFBR1_000031" "g.101911572A>G" "" "" "" "TGFBR1(NM_001306210.1):c.1509A>G (p.E503=), TGFBR1(NM_004612.4):c.1497A>G (p.E499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99149290A>G" "" "likely benign" "" "0000611743" "0" "30" "9" "101891159" "101891159" "subst" "9.35903E-5" "02327" "TGFBR1_000054" "g.101891159C>T" "" "" "" "TGFBR1(NM_001306210.1):c.120C>T (p.L40=), TGFBR1(NM_004612.4):c.120C>T (p.L40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99128877C>T" "" "likely benign" "" "0000611745" "0" "30" "9" "101907165" "101907165" "subst" "0.00397032" "01804" "TGFBR1_000024" "g.101907165A>C" "" "" "" "TGFBR1(NM_001130916.1):c.894A>C (p.(Thr298=)), TGFBR1(NM_004612.3):c.1125A>C (p.T375=), TGFBR1(NM_004612.4):c.1125A>C (p.T375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99144883A>C" "" "likely benign" "" "0000611746" "0" "50" "9" "101908774" "101908774" "subst" "8.13015E-6" "02325" "TGFBR1_000073" "g.101908774G>C" "" "" "" "TGFBR1(NM_001306210.2):c.1150G>C (p.A384P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99146492G>C" "" "VUS" "" "0000611747" "0" "70" "9" "101911523" "101911523" "subst" "0" "02327" "TGFBR1_000074" "g.101911523T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99149241T>C" "" "likely pathogenic" "" "0000652550" "1" "90" "9" "101894968" "101894968" "subst" "1.22088E-5" "03575" "TGFBR1_000075" "g.101894968G>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918713}" "Germline" "" "rs121918713" "0" "" "" "g.99132686G>T" "" "pathogenic" "" "0000653343" "1" "50" "9" "101900268" "101900273" "del" "0" "03575" "TGFBR1_000076" "g.101900268_101900273del" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863223830}" "Germline" "" "rs863223830" "0" "" "" "g.99137986_99137991del" "" "VUS" "" "0000656165" "0" "30" "9" "101867502" "101867502" "subst" "0" "02329" "TGFBR1_000009" "g.101867502C>T" "" "" "" "TGFBR1(NM_004612.3):c.15C>T (p.V5=), TGFBR1(NM_004612.4):c.15C>T (p.V5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99105220C>T" "" "likely benign" "" "0000656166" "0" "30" "9" "101909955" "101909955" "subst" "1.62971E-5" "02329" "TGFBR1_000077" "g.101909955A>G" "" "" "" "TGFBR1(NM_004612.4):c.1275A>G (p.Q425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99147673A>G" "" "likely benign" "" "0000660252" "0" "50" "9" "101894884" "101894884" "subst" "0" "01164" "TGFBR1_000078" "g.101894884A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.99132602A>G" "" "VUS" "" "0000664339" "0" "70" "9" "101900237" "101900237" "subst" "0" "01807" "TGFBR1_000079" "g.101900237G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.99137955G>T" "" "likely pathogenic" "" "0000667894" "11" "70" "9" "101900239" "101900239" "subst" "4.07644E-6" "02958" "TGFBR1_000080" "g.101900239C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.99137957C>T" "" "likely pathogenic (dominant)" "" "0000678468" "0" "50" "9" "101908841" "101908841" "subst" "8.13213E-6" "01943" "TGFBR1_000026" "g.101908841A>G" "" "" "" "TGFBR1(NM_001130916.1):c.974A>G (p.(Tyr325Cys)), TGFBR1(NM_001306210.1):c.1217A>G (p.Y406C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678469" "0" "50" "9" "101911508" "101911508" "subst" "0.000285395" "02325" "TGFBR1_000005" "g.101911508A>G" "" "" "" "TGFBR1(NM_001130916.1):c.1202A>G (p.(Asn401Ser)), TGFBR1(NM_001306210.2):c.1445A>G (p.N482S), TGFBR1(NM_004612.3):c.1433A>G (p.N478S), TGFBR1(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690339" "0" "30" "9" "101904712" "101904712" "subst" "0" "02329" "TGFBR1_000081" "g.101904712A>G" "" "" "" "TGFBR1(NM_004612.4):c.806-106A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722133" "0" "30" "9" "101904560" "101904560" "subst" "0" "02329" "TGFBR1_000082" "g.101904560T>G" "" "" "" "TGFBR1(NM_004612.4):c.806-258T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722134" "0" "30" "9" "101904957" "101904957" "subst" "4.06752E-6" "01943" "TGFBR1_000083" "g.101904957T>C" "" "" "" "TGFBR1(NM_001306210.1):c.957T>C (p.H319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000785357" "11" "90" "9" "101910022" "101910022" "dup" "0" "02284" "TGFBR1_000085" "g.101910022dup" "" "" "" "" "patient has an affected father carrying the same variant" "Germline" "yes" "" "0" "" "" "g.99147740dup" "RCV001209677.2" "likely pathogenic (dominant)" "ACMG" "0000785358" "0" "90" "9" "101910015" "101910018" "del" "0" "02284" "TGFBR1_000084" "g.101910015_101910018del" "" "" "" "" "variant absent in the father, while it was not possible to obtain DNA from her biological mother to verify de novo occurrence" "Germline/De novo (untested)" "?" "" "0" "" "" "g.99147733_99147736del" "" "likely pathogenic (dominant)" "ACMG" "0000803787" "0" "30" "9" "101867529" "101867529" "subst" "0" "02326" "TGFBR1_000086" "g.101867529C>T" "" "" "" "TGFBR1(NM_004612.4):c.42C>T (p.L14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803788" "0" "30" "9" "101891159" "101891159" "subst" "9.35903E-5" "02329" "TGFBR1_000054" "g.101891159C>T" "" "" "" "TGFBR1(NM_001306210.1):c.120C>T (p.L40=), TGFBR1(NM_004612.4):c.120C>T (p.L40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803789" "0" "30" "9" "101900244" "101900244" "subst" "0" "02329" "TGFBR1_000087" "g.101900244A>G" "" "" "" "TGFBR1(NM_004612.4):c.678A>G (p.G226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803790" "0" "50" "9" "101900305" "101900305" "subst" "0" "01943" "TGFBR1_000088" "g.101900305G>A" "" "" "" "TGFBR1(NM_001306210.1):c.751G>A (p.E251K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803791" "0" "50" "9" "101904851" "101904851" "subst" "0" "01943" "TGFBR1_000089" "g.101904851C>T" "" "" "" "TGFBR1(NM_001306210.1):c.851C>T (p.S284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803792" "0" "90" "9" "101907083" "101907083" "subst" "0" "01804" "TGFBR1_000090" "g.101907083G>A" "" "" "" "TGFBR1(NM_004612.2):c.1043G>A (p.(Cys348Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803793" "0" "50" "9" "101910051" "101910051" "subst" "0" "01943" "TGFBR1_000091" "g.101910051A>C" "" "" "" "TGFBR1(NM_001306210.1):c.1383A>C (p.R461S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831721" "1" "70" "9" "101900356" "101900356" "subst" "0" "00006" "TGFBR1_000061" "g.101900356G>A" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "incomplete penetrance" "Germline" "yes" "" "0" "" "" "g.99138074G>A" "" "likely pathogenic (!)" "" "0000831722" "1" "70" "9" "101908893" "101908893" "subst" "0" "00006" "TGFBR1_000068" "g.101908893T>C" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.99146611T>C" "" "likely pathogenic" "" "0000831723" "0" "90" "9" "101911535" "101911535" "subst" "0" "00006" "TGFBR1_000047" "g.101911535G>A" "2/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "De novo" "" "" "0" "" "" "g.99149253G>A" "" "pathogenic" "" "0000831806" "0" "50" "9" "101891173" "101891173" "subst" "8.13802E-6" "00006" "TGFBR1_000056" "g.101891173A>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.99128891A>G" "" "VUS" "" "0000831807" "0" "50" "9" "101904935" "101904935" "subst" "0" "00006" "TGFBR1_000064" "g.101904935C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "De novo" "" "" "0" "" "" "g.99142653C>T" "" "VUS" "" "0000831808" "1" "50" "9" "101904970" "101904970" "subst" "0" "00006" "TGFBR1_000065" "g.101904970A>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.99142688A>G" "" "VUS" "" "0000852038" "0" "30" "9" "101867563" "101867565" "del" "0" "01804" "TGFBR1_000050" "g.101867563_101867565del" "" "" "" "TGFBR1(NM_001130916.1):c.57_59del (p.(Ala26del)), TGFBR1(NM_004612.4):c.76_78delGCG (p.A26del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852039" "0" "50" "9" "101908777" "101908777" "subst" "5.69129E-5" "01943" "TGFBR1_000093" "g.101908777C>T" "" "" "" "TGFBR1(NM_001306210.1):c.1153C>T (p.P385S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861318" "0" "50" "9" "101894844" "101894844" "subst" "4.06901E-6" "02329" "TGFBR1_000092" "g.101894844C>T" "" "" "" "TGFBR1(NM_004612.4):c.397C>T (p.P133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000880001" "0" "70" "9" "101900299" "101900299" "subst" "0" "00006" "TGFBR1_000095" "g.101900299G>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99138017G>A" "" "likely pathogenic" "" "0000880002" "0" "90" "9" "101908835" "101908835" "subst" "0" "00006" "TGFBR1_000040" "g.101908835A>G" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99146553A>G" "" "pathogenic" "" "0000880003" "1" "90" "9" "101908835" "101908835" "subst" "0" "00006" "TGFBR1_000040" "g.101908835A>G" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline" "yes" "" "0" "" "" "g.99146553A>G" "" "pathogenic" "" "0000880004" "21" "90" "9" "101900249" "101900251" "del" "0" "00006" "TGFBR1_000094" "g.101900249_101900251del" "" "{PMID:Almpani 2022:34916229}" "" "683_685delAAG" "" "Germline" "yes" "" "0" "" "" "g.99137967_99137969del" "" "pathogenic" "" "0000880005" "0" "90" "9" "101900249" "101900251" "del" "0" "00006" "TGFBR1_000094" "g.101900249_101900251del" "" "{PMID:Almpani 2022:34916229}" "" "683_685delAAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99137967_99137969del" "" "pathogenic" "" "0000880006" "0" "70" "9" "101909959" "101909959" "subst" "0" "00006" "TGFBR1_000100" "g.101909959C>G" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99147677C>G" "" "likely pathogenic" "" "0000880007" "0" "70" "9" "101907101" "101907101" "subst" "0" "00006" "TGFBR1_000097" "g.101907101T>G" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99144819T>G" "" "likely pathogenic" "" "0000880008" "0" "90" "9" "101900288" "101900288" "subst" "0" "00006" "TGFBR1_000060" "g.101900288C>T" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99138006C>T" "" "pathogenic" "" "0000880009" "0" "90" "9" "101911534" "101911534" "subst" "0" "00006" "TGFBR1_000101" "g.101911534C>T" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99149252C>T" "" "pathogenic" "" "0000880010" "1" "90" "9" "101911534" "101911534" "subst" "0" "00006" "TGFBR1_000101" "g.101911534C>T" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline" "yes" "" "0" "" "" "g.99149252C>T" "" "pathogenic" "" "0000880011" "0" "70" "9" "101907037" "101907037" "subst" "0" "00006" "TGFBR1_000096" "g.101907037G>C" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99144755G>C" "" "likely pathogenic" "" "0000880012" "0" "70" "9" "101908835" "101908835" "subst" "0" "00006" "TGFBR1_000099" "g.101908835A>T" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99146553A>T" "" "likely pathogenic" "" "0000880013" "0" "70" "9" "101907101" "101907101" "subst" "0" "00006" "TGFBR1_000097" "g.101907101T>G" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99144819T>G" "" "likely pathogenic" "" "0000880014" "0" "90" "9" "101900288" "101900288" "subst" "0" "00006" "TGFBR1_000060" "g.101900288C>T" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99138006C>T" "" "pathogenic" "" "0000880015" "0" "70" "9" "101907107" "101907107" "subst" "0" "00006" "TGFBR1_000098" "g.101907107T>G" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.99144825T>G" "" "likely pathogenic" "" "0000888496" "0" "30" "9" "101867607" "101867610" "dup" "0" "02329" "TGFBR1_000102" "g.101867607_101867610dup" "" "" "" "TGFBR1(NM_004612.4):c.97+24_97+27dupGCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888497" "0" "30" "9" "101900253" "101900253" "subst" "0" "02326" "TGFBR1_000103" "g.101900253T>G" "" "" "" "TGFBR1(NM_004612.4):c.687T>G (p.V229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888498" "0" "90" "9" "101900281" "101900281" "subst" "0" "02327" "TGFBR1_000104" "g.101900281G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888499" "0" "30" "9" "101904822" "101904822" "subst" "5.28391E-5" "02329" "TGFBR1_000062" "g.101904822T>C" "" "" "" "TGFBR1(NM_004612.4):c.810T>C (p.N270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924914" "0" "50" "9" "101867461" "101867461" "subst" "0" "02325" "TGFBR1_000105" "g.101867461C>T" "" "" "" "TGFBR1(NM_004612.4):c.-27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924915" "0" "50" "9" "101894856" "101894856" "subst" "2.44111E-5" "02329" "TGFBR1_000106" "g.101894856G>A" "" "" "" "TGFBR1(NM_004612.4):c.409G>A (p.V137I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924916" "0" "50" "9" "101904832" "101904832" "subst" "0" "02329" "TGFBR1_000107" "g.101904832A>G" "" "" "" "TGFBR1(NM_004612.4):c.820A>G (p.T274A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949131" "0" "30" "9" "101867757" "101867757" "subst" "0" "02329" "TGFBR1_000108" "g.101867757C>T" "" "" "" "TGFBR1(NM_004612.4):c.97+173C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949132" "0" "30" "9" "101904742" "101904742" "subst" "0" "02329" "TGFBR1_000109" "g.101904742T>A" "" "" "" "TGFBR1(NM_004612.4):c.806-76T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965092" "0" "30" "9" "101890871" "101890871" "subst" "0" "02329" "TGFBR1_000110" "g.101890871T>G" "" "" "" "TGFBR1(NM_004612.4):c.98-266T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965093" "0" "30" "9" "101900461" "101900461" "subst" "0" "02329" "TGFBR1_000111" "g.101900461T>C" "" "" "" "TGFBR1(NM_004612.4):c.805+90T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965094" "0" "30" "9" "101905004" "101905004" "subst" "2.03527E-5" "02329" "TGFBR1_000112" "g.101905004C>A" "" "" "" "TGFBR1(NM_004612.4):c.973+19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965095" "0" "30" "9" "101907165" "101907165" "subst" "0.00397032" "02329" "TGFBR1_000024" "g.101907165A>C" "" "" "" "TGFBR1(NM_001130916.1):c.894A>C (p.(Thr298=)), TGFBR1(NM_004612.3):c.1125A>C (p.T375=), TGFBR1(NM_004612.4):c.1125A>C (p.T375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965096" "0" "30" "9" "101909899" "101909899" "subst" "0.000349374" "02329" "TGFBR1_000113" "g.101909899A>C" "" "" "" "TGFBR1(NM_004612.4):c.1256-37A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965097" "0" "90" "9" "101911534" "101911534" "subst" "0" "02327" "TGFBR1_000101" "g.101911534C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978319" "0" "50" "9" "101891320" "101891320" "subst" "4.06994E-6" "01804" "TGFBR1_000114" "g.101891320C>T" "" "" "" "TGFBR1(NM_004612.4):c.281C>T (p.(Ser94Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997395" "0" "30" "9" "101867554" "101867565" "del" "0" "02329" "TGFBR1_000115" "g.101867554_101867565del" "" "" "" "TGFBR1(NM_004612.4):c.67_78delGCGGCGGCGGCG (p.A23_A26del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997396" "0" "30" "9" "101890898" "101890898" "subst" "0" "02329" "TGFBR1_000116" "g.101890898A>G" "" "" "" "TGFBR1(NM_004612.4):c.98-239A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997397" "0" "50" "9" "101891253" "101891253" "subst" "0.000211657" "02325" "TGFBR1_000014" "g.101891253A>T" "" "" "" "TGFBR1(NM_001130916.1):c.214A>T (p.(Ile72Leu)), TGFBR1(NM_001306210.1):c.214A>T (p.I72L), TGFBR1(NM_004612.3):c.214A>T (p.I72L), TGFBR1(NM_004612....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997398" "0" "30" "9" "101891370" "101891370" "subst" "0" "01804" "TGFBR1_000117" "g.101891370C>T" "" "" "" "TGFBR1(NM_004612.2):c.331C>T (p.(Leu111Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997399" "0" "90" "9" "101900360" "101900362" "del" "0" "02329" "TGFBR1_000118" "g.101900360_101900362del" "" "" "" "TGFBR1(NM_004612.4):c.794_796delCAG (p.A265del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997400" "0" "30" "9" "101909964" "101909964" "subst" "0" "02329" "TGFBR1_000119" "g.101909964T>C" "" "" "" "TGFBR1(NM_004612.4):c.1284T>C (p.Y428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997401" "0" "30" "9" "101911391" "101911391" "subst" "0" "02329" "TGFBR1_000120" "g.101911391C>T" "" "" "" "TGFBR1(NM_004612.4):c.1387-71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025555" "0" "30" "9" "101867558" "101867558" "subst" "0" "02329" "TGFBR1_000121" "g.101867558C>T" "" "" "" "TGFBR1(NM_004612.4):c.71C>T (p.A24V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025556" "0" "50" "9" "101894898" "101894898" "subst" "0" "02329" "TGFBR1_000058" "g.101894898C>T" "" "" "" "TGFBR1(NM_001306210.1):c.463C>T (p.R155C), TGFBR1(NM_004612.4):c.451C>T (p.(Arg151Cys), p.R151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025557" "0" "50" "9" "101911507" "101911507" "subst" "0" "02327" "TGFBR1_000123" "g.101911507A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027562" "0" "70" "9" "101900173" "101900184" "dup" "0" "00006" "TGFBR1_000122" "g.101900173_101900184dup" "" "{PMID:Boissel 2017:29261186}" "" "605_606insGAGAACTATTGT" "" "De novo" "" "" "0" "" "" "g.99137891_99137902dup" "" "likely pathogenic (dominant)" "" "0001030226" "0" "70" "9" "101894859" "101894859" "subst" "0" "03779" "TGFBR1_000124" "g.101894859T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001037110" "0" "10" "9" "101867563" "101867565" "del" "0" "02326" "TGFBR1_000050" "g.101867563_101867565del" "" "" "" "TGFBR1(NM_001130916.1):c.57_59del (p.(Ala26del)), TGFBR1(NM_004612.4):c.76_78delGCG (p.A26del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037111" "0" "50" "9" "101894898" "101894898" "subst" "0" "01804" "TGFBR1_000058" "g.101894898C>T" "" "" "" "TGFBR1(NM_001306210.1):c.463C>T (p.R155C), TGFBR1(NM_004612.4):c.451C>T (p.(Arg151Cys), p.R151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037112" "0" "70" "9" "101900330" "101900330" "subst" "0" "01804" "TGFBR1_000125" "g.101900330G>A" "" "" "" "TGFBR1(NM_004612.4):c.764G>A (p.(Arg255His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037113" "0" "70" "9" "101904859" "101904859" "subst" "0" "01804" "TGFBR1_000126" "g.101904859C>T" "" "" "" "TGFBR1(NM_004612.4):c.847C>T (p.(His283Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 TGFBR1 ## Count = 163 "{{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}}" "0000082949" "00024070" "90" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Glu245Gly)" "" "0000149125" "00024070" "00" "415" "0" "415" "0" "c.415A>G" "r.(?)" "p.(Ile139Val)" "" "0000149126" "00024070" "00" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000149127" "00024070" "00" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413*)" "" "0000149128" "00024070" "00" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Asn478Ser)" "" "0000169328" "00024070" "00" "70" "0" "78" "0" "c.70_78del" "r.(?)" "p.(Ala24_Ala26del)" "" "0000236376" "00024070" "90" "973" "1" "973" "1" "c.973+1G>A" "r.[806_973del, 965_974del]" "p.[Asp269_Gln324del, Thr323_Gly325del]" "5i" "0000250220" "00024070" "10" "1581" "0" "1581" "0" "c.*69A>G" "r.(=)" "p.(=)" "" "0000250294" "00024070" "30" "1497" "0" "1497" "0" "c.1497A>G" "r.(?)" "p.(Glu499=)" "" "0000250498" "00024070" "70" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Asn338Asp)" "" "0000250845" "00024070" "30" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Asn478Ser)" "" "0000255000" "00024070" "30" "1008" "0" "1008" "0" "c.1008A>C" "r.(?)" "p.(Ser336=)" "" "0000255086" "00024070" "30" "1125" "0" "1125" "0" "c.1125A>C" "r.(?)" "p.(Thr375=)" "" "0000255787" "00024070" "50" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Asn478Ser)" "" "0000256112" "00024070" "50" "214" "0" "214" "0" "c.214A>T" "r.(?)" "p.(Ile72Leu)" "" "0000311814" "00024070" "30" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ala4Val)" "" "0000313296" "00024070" "90" "1051" "0" "1051" "0" "c.1051G>T" "r.(?)" "p.(Asp351Tyr)" "" "0000313297" "00024070" "90" "1113" "0" "1114" "0" "c.1113_1114del" "r.(?)" "p.(His371GlnfsTer11)" "" "0000313298" "00024070" "10" "1255" "24" "1255" "24" "c.1255+24G>A" "r.(=)" "p.(=)" "" "0000313299" "00024070" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000313300" "00024070" "30" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(Thr176=)" "" "0000313301" "00024070" "70" "648" "0" "648" "0" "c.648T>G" "r.(?)" "p.(Phe216Leu)" "" "0000313302" "00024070" "10" "70" "0" "78" "0" "c.70_78del" "r.(?)" "p.(Ala24_Ala26del)" "" "0000314509" "00024070" "30" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(Thr176=)" "" "0000314510" "00024070" "70" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "" "0000316518" "00024070" "30" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Leu384=)" "" "0000316519" "00024070" "90" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Arg414Ter)" "" "0000316520" "00024070" "10" "1255" "24" "1255" "24" "c.1255+24G>A" "r.(=)" "p.(=)" "" "0000316522" "00024070" "10" "1386" "90" "1386" "94" "c.1386+90_1386+94del" "r.(=)" "p.(=)" "" "0000316523" "00024070" "50" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Cys48Tyr)" "" "0000316524" "00024070" "30" "1508" "0" "1508" "0" "c.1508T>C" "r.(?)" "p.(Met503Thr)" "" "0000316525" "00024070" "30" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Val5=)" "" "0000316526" "00024070" "90" "343" "1" "343" "1" "c.343+1G>A" "r.spl?" "p.?" "" "0000316527" "00024070" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000316528" "00024070" "30" "806" "-23" "806" "-23" "c.806-23G>A" "r.(=)" "p.(=)" "" "0000316529" "00024070" "30" "927" "0" "927" "0" "c.927G>C" "r.(?)" "p.(Thr309=)" "" "0000316530" "00024070" "10" "98" "-66" "98" "-66" "c.98-66T>C" "r.(=)" "p.(=)" "" "0000332715" "00024070" "50" "70" "0" "78" "0" "c.70_78del" "r.(?)" "p.(Ala24_Ala26del)" "" "0000332716" "00024070" "50" "556" "0" "556" "0" "c.556A>G" "r.(?)" "p.(Thr186Ala)" "" "0000332717" "00024070" "50" "1205" "0" "1205" "0" "c.1205A>G" "r.(?)" "p.(Tyr402Cys)" "" "0000342015" "00024070" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "" "0000351528" "00024070" "90" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Lys376Glu)" "6" "0000406051" "00024070" "50" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Ile263Thr)" "" "0000480117" "00024070" "90" "1225" "0" "1225" "0" "c.1225T>G" "r.(?)" "p.(Trp409Gly)" "7" "0000498906" "00024070" "90" "1199" "0" "1199" "0" "c.1199A>G" "r.(1199a>g)" "p.(Asp400Gly)" "7" "0000498909" "00024070" "90" "1120" "0" "1120" "0" "c.1120G>A" "r.(1120g>a)" "p.(Gly374Arg)" "6" "0000498911" "00024070" "90" "1052" "0" "1052" "0" "c.1052A>T" "r.(1052a>u)" "p.(Asp351Val)" "6" "0000498912" "00024070" "90" "812" "0" "812" "0" "c.812G>A" "r.(812g>a)" "p.(Gly271Asp)" "5" "0000499180" "00024070" "90" "705" "0" "707" "0" "c.705_707del" "r.(705_707del)" "p.(Ser236del)" "4" "0000499182" "00024070" "90" "650" "0" "650" "0" "c.650G>T" "r.(650g>u)" "p.(Gly217Val)" "4" "0000499183" "00024070" "90" "1057" "0" "1057" "0" "c.1057G>C" "r.(1057g>c)" "p.(Gly353Arg)" "6" "0000499184" "00024070" "90" "1460" "0" "1460" "0" "c.1460G>A" "r.(1460g>a)" "p.(Arg487Gln)" "9" "0000499185" "00024070" "90" "693" "0" "699" "0" "c.693_699delinsC" "r.(693_699delinsc)" "p.(Lys232_Ile233del)" "4" "0000535593" "00024070" "10" "76" "0" "78" "0" "c.76_78del" "r.(?)" "p.(Ala26del)" "" "0000535594" "00024070" "30" "76" "0" "78" "0" "c.76_78dup" "r.(?)" "p.(Ala26dup)" "" "0000535595" "00024070" "30" "92" "0" "92" "0" "c.92C>A" "r.(?)" "p.(Ala31Glu)" "" "0000535596" "00024070" "50" "98" "-67" "98" "-67" "c.98-67dup" "r.(=)" "p.(=)" "" "0000535597" "00024070" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Leu40=)" "" "0000535598" "00024070" "50" "121" "0" "121" "0" "c.121T>A" "r.(?)" "p.(Cys41Ser)" "" "0000535599" "00024070" "50" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Asn45Ser)" "" "0000535600" "00024070" "50" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Ser69=)" "" "0000535601" "00024070" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Ser69=)" "" "0000535602" "00024070" "30" "214" "0" "214" "0" "c.214A>T" "r.(?)" "p.(Ile72Leu)" "" "0000535603" "00024070" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "" "0000535604" "00024070" "50" "508" "0" "508" "0" "c.508T>G" "r.(?)" "p.(Phe170Val)" "" "0000535605" "00024070" "30" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(Thr176=)" "" "0000535606" "00024070" "70" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Ser241Leu)" "" "0000535607" "00024070" "50" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Ala264Thr)" "" "0000535608" "00024070" "30" "810" "0" "810" "0" "c.810T>C" "r.(?)" "p.(Asn270=)" "" "0000535609" "00024070" "50" "906" "0" "906" "0" "c.906G>C" "r.(?)" "p.(Met302Ile)" "" "0000535610" "00024070" "50" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Ser308Phe)" "" "0000535611" "00024070" "30" "927" "0" "927" "0" "c.927G>C" "r.(?)" "p.(Thr309=)" "" "0000535612" "00024070" "50" "958" "0" "958" "0" "c.958A>G" "r.(?)" "p.(Ile320Val)" "" "0000535613" "00024070" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Val321Ile)" "" "0000535614" "00024070" "50" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Val341Ala)" "" "0000535616" "00024070" "70" "1255" "2" "1255" "2" "c.1255+2T>C" "r.spl?" "p.?" "" "0000535617" "00024070" "10" "1256" "-109" "1256" "-109" "c.1256-109dup" "r.(=)" "p.(=)" "" "0000535619" "00024070" "30" "1387" "-14" "1387" "-14" "c.1387-14dup" "r.(=)" "p.(=)" "" "0000535620" "00024070" "50" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Asn478Ser)" "" "0000535621" "00024070" "30" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Asn478Ser)" "" "0000535622" "00024070" "90" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" "" "0000535623" "00024070" "30" "1497" "0" "1497" "0" "c.1497A>G" "r.(?)" "p.(Glu499=)" "" "0000611743" "00024070" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Leu40=)" "" "0000611745" "00024070" "30" "1125" "0" "1125" "0" "c.1125A>C" "r.(?)" "p.(Thr375=)" "" "0000611746" "00024070" "50" "1138" "0" "1138" "0" "c.1138G>C" "r.(?)" "p.(Ala380Pro)" "" "0000611747" "00024070" "70" "1448" "0" "1448" "0" "c.1448T>C" "r.(?)" "p.(Leu483Pro)" "" "0000652550" "00024070" "90" "521" "0" "521" "0" "c.521G>T" "r.(?)" "p.(Gly174Val)" "" "0000653343" "00024070" "50" "702" "0" "707" "0" "c.702_707del" "r.(?)" "p.(Ser235_Ser236del)" "" "0000656165" "00024070" "30" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Val5=)" "" "0000656166" "00024070" "30" "1275" "0" "1275" "0" "c.1275A>G" "r.(?)" "p.(Gln425=)" "" "0000660252" "00024070" "50" "437" "0" "437" "0" "c.437A>G" "r.(?)" "p.(Tyr146Cys)" "" "0000664339" "00024070" "70" "671" "0" "671" "0" "c.671G>T" "r.(?)" "p.(Trp224Leu)" "" "0000667894" "00024070" "70" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Trp)" "4" "0000678468" "00024070" "50" "1205" "0" "1205" "0" "c.1205A>G" "r.(?)" "p.(Tyr402Cys)" "" "0000678469" "00024070" "50" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Asn478Ser)" "" "0000690339" "00024070" "30" "806" "-106" "806" "-106" "c.806-106A>G" "r.(=)" "p.(=)" "" "0000722133" "00024070" "30" "806" "-258" "806" "-258" "c.806-258T>G" "r.(=)" "p.(=)" "" "0000722134" "00024070" "30" "945" "0" "945" "0" "c.945T>C" "r.(?)" "p.(His315=)" "" "0000785357" "00024070" "90" "1342" "0" "1342" "0" "c.1342dup" "r.(?)" "p.(Gln448Profs*15)" "8" "0000785358" "00024070" "90" "1335" "0" "1338" "0" "c.1335_1338del" "r.(?)" "p.(Cys446Asnfs*4)" "8" "0000803787" "00024070" "30" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Leu14=)" "" "0000803788" "00024070" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Leu40=)" "" "0000803789" "00024070" "30" "678" "0" "678" "0" "c.678A>G" "r.(?)" "p.(Gly226=)" "" "0000803790" "00024070" "50" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Glu247Lys)" "" "0000803791" "00024070" "50" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Ser280Leu)" "" "0000803792" "00024070" "90" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Cys348Tyr)" "" "0000803793" "00024070" "50" "1371" "0" "1371" "0" "c.1371A>C" "r.(?)" "p.(Arg457Ser)" "" "0000831721" "00024070" "70" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Ala264Thr)" "" "0000831722" "00024070" "70" "1255" "2" "1255" "2" "c.1255+2T>C" "r,spl" "p.[Tyr378Asnfs*3,0]" "" "0000831723" "00024070" "90" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" "" "0000831806" "00024070" "50" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Asn45Ser)" "" "0000831807" "00024070" "50" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Ser308Phe)" "" "0000831808" "00024070" "50" "958" "0" "958" "0" "c.958A>G" "r.(?)" "p.(Ile320Val)" "" "0000852038" "00024070" "30" "76" "0" "78" "0" "c.76_78del" "r.(?)" "p.(Ala26del)" "" "0000852039" "00024070" "50" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Pro381Ser)" "" "0000861318" "00024070" "50" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Pro133Ser)" "" "0000880001" "00024070" "70" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Glu245Lys)" "" "0000880002" "00024070" "90" "1199" "0" "1199" "0" "c.1199A>G" "r.(?)" "p.(Asp400Gly)" "" "0000880003" "00024070" "90" "1199" "0" "1199" "0" "c.1199A>G" "r.(?)" "p.(Asp400Gly)" "" "0000880004" "00024070" "90" "683" "0" "685" "0" "c.683_685del" "r.(?)" "p.(Glu228del)" "" "0000880005" "00024070" "90" "683" "0" "685" "0" "c.683_685del" "r.(?)" "p.(Glu228del)" "" "0000880006" "00024070" "70" "1279" "0" "1279" "0" "c.1279C>G" "r.(?)" "p.(Pro427Ala)" "" "0000880007" "00024070" "70" "1061" "0" "1061" "0" "c.1061T>G" "r.(?)" "p.(Leu354Arg)" "" "0000880008" "00024070" "90" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Ser241Leu)" "" "0000880009" "00024070" "90" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487Trp)" "" "0000880010" "00024070" "90" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487Trp)" "" "0000880011" "00024070" "70" "997" "0" "997" "0" "c.997G>C" "r.(?)" "p.(Asp333His)" "" "0000880012" "00024070" "70" "1199" "0" "1199" "0" "c.1199A>T" "r.(?)" "p.(Asp400Val)" "" "0000880013" "00024070" "70" "1061" "0" "1061" "0" "c.1061T>G" "r.(?)" "p.(Leu354Arg)" "" "0000880014" "00024070" "90" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Ser241Leu)" "" "0000880015" "00024070" "70" "1067" "0" "1067" "0" "c.1067T>G" "r.(?)" "p.(Val356Gly)" "" "0000888496" "00024070" "30" "97" "23" "97" "26" "c.97+23_97+26dup" "r.(=)" "p.(=)" "" "0000888497" "00024070" "30" "687" "0" "687" "0" "c.687T>G" "r.(?)" "p.(Val229=)" "" "0000888498" "00024070" "90" "715" "0" "715" "0" "c.715G>T" "r.(?)" "p.(Glu239*)" "" "0000888499" "00024070" "30" "810" "0" "810" "0" "c.810T>C" "r.(?)" "p.(Asn270=)" "" "0000924914" "00024070" "50" "-27" "0" "-27" "0" "c.-27C>T" "r.(?)" "p.(=)" "" "0000924915" "00024070" "50" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Val137Ile)" "" "0000924916" "00024070" "50" "820" "0" "820" "0" "c.820A>G" "r.(?)" "p.(Thr274Ala)" "" "0000949131" "00024070" "30" "97" "173" "97" "173" "c.97+173C>T" "r.(=)" "p.(=)" "" "0000949132" "00024070" "30" "806" "-76" "806" "-76" "c.806-76T>A" "r.(=)" "p.(=)" "" "0000965092" "00024070" "30" "98" "-266" "98" "-266" "c.98-266T>G" "r.(=)" "p.(=)" "" "0000965093" "00024070" "30" "805" "90" "805" "90" "c.805+90T>C" "r.(=)" "p.(=)" "" "0000965094" "00024070" "30" "973" "19" "973" "19" "c.973+19C>A" "r.(=)" "p.(=)" "" "0000965095" "00024070" "30" "1125" "0" "1125" "0" "c.1125A>C" "r.(?)" "p.(Thr375=)" "" "0000965096" "00024070" "30" "1256" "-37" "1256" "-37" "c.1256-37A>C" "r.(=)" "p.(=)" "" "0000965097" "00024070" "90" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487Trp)" "" "0000978319" "00024070" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Ser94Phe)" "" "0000997395" "00024070" "30" "67" "0" "78" "0" "c.67_78del" "r.(?)" "p.(Ala23_Ala26del)" "" "0000997396" "00024070" "30" "98" "-239" "98" "-239" "c.98-239A>G" "r.(=)" "p.(=)" "" "0000997397" "00024070" "50" "214" "0" "214" "0" "c.214A>T" "r.(?)" "p.(Ile72Leu)" "" "0000997398" "00024070" "30" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Leu111Phe)" "" "0000997399" "00024070" "90" "794" "0" "796" "0" "c.794_796del" "r.(?)" "p.(Ala265del)" "" "0000997400" "00024070" "30" "1284" "0" "1284" "0" "c.1284T>C" "r.(?)" "p.(=)" "" "0000997401" "00024070" "30" "1387" "-71" "1387" "-71" "c.1387-71C>T" "r.(=)" "p.(=)" "" "0001025555" "00024070" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Ala24Val)" "" "0001025556" "00024070" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "" "0001025557" "00024070" "50" "1432" "0" "1432" "0" "c.1432A>T" "r.(?)" "p.(Asn478Tyr)" "" "0001027562" "00024070" "70" "607" "0" "618" "0" "c.607_618dup" "r.(?)" "p.(Arg203_Val206dup)" "" "0001030226" "00024070" "70" "412" "0" "412" "0" "c.412T>C" "r.(?)" "p.(Cys138Arg)" "" "0001037110" "00024070" "10" "76" "0" "78" "0" "c.76_78del" "r.(?)" "p.(Ala26del)" "" "0001037111" "00024070" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "" "0001037112" "00024070" "70" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255His)" "" "0001037113" "00024070" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(His283Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000053017" "0000082949" "0000090996" "0000149125" "0000090997" "0000149126" "0000090998" "0000149127" "0000090999" "0000149128" "0000104479" "0000169328" "0000145277" "0000236376" "0000152693" "0000351528" "0000182174" "0000406051" "0000236413" "0000480117" "0000246320" "0000498906" "0000246323" "0000498909" "0000246324" "0000498911" "0000246325" "0000498912" "0000246455" "0000499180" "0000246457" "0000499182" "0000246458" "0000499183" "0000246459" "0000499184" "0000246460" "0000499185" "0000295861" "0000652550" "0000296654" "0000653343" "0000297646" "0000660252" "0000301406" "0000664339" "0000304451" "0000667894" "0000374565" "0000785357" "0000374566" "0000785358" "0000399360" "0000831721" "0000399361" "0000831722" "0000399362" "0000831723" "0000399445" "0000831806" "0000399446" "0000831807" "0000399447" "0000831808" "0000419829" "0000880001" "0000419830" "0000880002" "0000419831" "0000880003" "0000419832" "0000880004" "0000419833" "0000880005" "0000419834" "0000880006" "0000419835" "0000880007" "0000419836" "0000880008" "0000419837" "0000880009" "0000419838" "0000880010" "0000419839" "0000880011" "0000419840" "0000880012" "0000419841" "0000880013" "0000419842" "0000880014" "0000419843" "0000880015" "0000463942" "0001027562"