### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACVRL1) # 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}}" "ACVRL1" "activin A receptor type II-like 1" "12" "q13.13" "unknown" "NG_009549.1" "UD_132119122675" "" "https://www.LOVD.nl/ACVRL1" "" "1" "175" "94" "601284" "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/ACVRL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-18 12:36:59" "00000" "2025-07-29 22:10:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002053" "ACVRL1" "transcript variant 1" "001" "NM_000020.2" "" "NP_000011.2" "" "" "" "-283" "3980" "1512" "52301202" "52317145" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01575" "HHT" "telangiectasia hemorrhagic, hereditary (HHT)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-11 15:46:12" "02294" "VMCM" "venous malformations, multiple cutaneous and mucosal (VMCM)" "AD" "600195" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02301" "HHT2" "telangiectasia, hemorrhagic, hereditary, type 2 (HHT2)" "AD" "600376" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-11 15:44:29" "05328" "epidermolysis bullosa" "epidermolysis bullosa" "" "" "" "" "" "00006" "2017-09-08 17:28:42" "" "" "05522" "HHT1" "telangiectasia hemorrhagic, hereditary, type 1 (HHT1, Osler-Rendu-Weber disease)" "AD" "187300" "" "autosomal dominant" "" "00006" "2018-11-23 16:28:57" "00006" "2021-01-11 15:46:16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ACVRL1" "01575" "ACVRL1" "02301" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{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}}" "00034652" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034653" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034654" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034655" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034656" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034657" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034658" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034659" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034660" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034661" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034662" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034663" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034664" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034665" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034666" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034667" "" "" "" "1" "" "01164" "" "clinically M. Osler" "F" "?" "Germany" "" "0" "" "" "" "70046" "00034668" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00117341" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00207450" "" "" "" "11" "" "00006" "{PMID:Wooderchak-Donahue 2018:30244195}" "4-generation family, 11 affected (8F, 3M)" "F;M" "no" "United States" "" "0" "" "" "" "30244195-Fam1PatIII2" "00207502" "" "" "" "3" "" "00006" "{PMID:Wooderchak-Donahue 2018:30244195}" "3-generation family, 3 affected (2F, M)" "F" "" "United States" "" "0" "" "" "" "30244195-Fam2PatIII1" "00207503" "" "" "" "1" "" "00006" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "M" "" "United States" "" "0" "" "" "" "30244195-Pat3" "00207504" "" "" "" "1" "" "00006" "{PMID:Wooderchak-Donahue 2018:30244195}" "family history" "M" "" "United States" "" "0" "" "" "" "30244195-Pat4" "00207505" "" "" "" "1" "" "00006" "{PMID:Wooderchak-Donahue 2018:30244195}" "family history" "F" "" "United States" "" "0" "" "" "" "30244195-Pat5" "00207506" "" "" "" "1" "" "00006" "{PMID:Wooderchak-Donahue 2018:30244195}" "family history" "F" "" "United States" "" "0" "" "" "" "30244195-Pat6" "00207507" "" "" "" "1" "" "00006" "{PMID:Wooderchak-Donahue 2018:30244195}" "family history" "M" "" "United States" "" "0" "" "" "" "30244195-Pat7" "00207508" "" "" "" "1" "" "00006" "{PMID:Wooderchak-Donahue 2018:30244195}" "family history" "F" "" "United States" "" "0" "" "" "" "30244195-Pat8" "00269824" "" "" "" "1" "" "00006" "{PMID:Snellings 2019:31630786}" "" "F" "" "Canada" "" "0" "" "" "" "Pat6002-1" "00269825" "" "" "" "1" "" "00006" "{PMID:Snellings 2019:31630786}" "" "M" "" "Canada" "" "0" "" "" "" "Pat6003-1" "00269826" "" "" "" "1" "" "00006" "{PMID:Snellings 2019:31630786}" "" "M" "" "Canada" "" "0" "" "" "" "Pat6004-1" "00269827" "" "" "" "1" "" "00006" "{PMID:Snellings 2019:31630786}" "" "M" "" "Canada" "" "0" "" "" "" "Pat6005-1" "00290744" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290745" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00326433" "" "" "" "1" "" "00006" "{PMID:Wang 2018:30120215}" "" "" "" "China" "" "0" "" "" "" "AVM403" "00326434" "" "" "" "1" "" "00006" "{PMID:Wang 2018:30120215}" "" "" "" "China" "" "0" "" "" "" "AVM375" "00417648" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00419551" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8101" "00419648" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20043" "00464520" "" "" "" "1" "" "04817" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "no" "Italy" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00034667" "05328" "00117341" "02301" "00207450" "01575" "00207502" "01575" "00207503" "01575" "00207504" "01575" "00207505" "01575" "00207506" "01575" "00207507" "01575" "00207508" "01575" "00269824" "01575" "00269825" "01575" "00269826" "01575" "00269827" "01575" "00290744" "00198" "00290745" "00198" "00326433" "00198" "00326434" "00198" "00417648" "05522" "00419551" "00198" "00419648" "00198" "00464520" "02294" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01575, 02294, 02301, 05328, 05522 ## Count = 18 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000128880" "05328" "00034667" "01164" "Familial" "38y" "clinically M. Osler, epistaxis, telangiectasia" "" "" "" "" "" "" "" "" "" "31y" "" "0000155273" "01575" "00207450" "00006" "Familial, autosomal dominant" "63y" "epistaxis, pulmonary arteriovenous malformation, hepatic arteriovenous malformation" "" "" "" "" "" "" "" "" "HHT-2" "hereditary haemorrhagict elangiectasia" "" "0000155280" "01575" "00207502" "00006" "Familial, autosomal dominant" "27y" "epistaxis, telangiectasia, pulmonary arteriovenous malformation" "" "" "" "" "" "" "" "" "HHT-2" "hereditary haemorrhagict elangiectasia" "" "0000155281" "01575" "00207503" "00006" "Unknown" "41y" "epistaxis, telangiectasia, pulmonary arteriovenous malformation" "" "" "" "" "" "" "" "" "HHT-2" "hereditary haemorrhagict elangiectasia" "" "0000155282" "01575" "00207504" "00006" "Familial, autosomal dominant" "64y" "epistaxis, telangiectasia, colon arteriovenous malformation" "" "" "" "" "" "" "" "" "HHT-2" "hereditary haemorrhagict elangiectasia" "" "0000155283" "01575" "00207505" "00006" "Familial, autosomal dominant" "47y" "epistaxis, telangiectasia, pulmonary arteriovenous malformation, hepatic arteriovenous malformation" "" "" "" "" "" "" "" "" "HHT-2" "hereditary haemorrhagict elangiectasia" "" "0000155284" "01575" "00207506" "00006" "Familial, autosomal dominant" "70y" "telangiectasia, pulmonary arteriovenous malformation, hepatic arteriovenous malformation" "" "" "" "" "" "" "" "" "HHT-2" "hereditary haemorrhagict elangiectasia" "" "0000155285" "01575" "00207507" "00006" "Familial, autosomal dominant" "49y" "epistaxis, diffuse arteriovenous malformation" "" "" "" "" "" "" "" "" "HHT-2" "hereditary haemorrhagict elangiectasia" "" "0000155286" "01575" "00207508" "00006" "Familial, autosomal dominant" "80y" "epistaxis, telangiectasia, pulmonary arteriovenous malformation" "" "" "" "" "" "" "" "" "HHT-2" "hereditary haemorrhagict elangiectasia" "" "0000207615" "01575" "00269824" "00006" "Familial, autosomal dominant" "70y" "recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history" "" "" "" "" "" "" "" "" "HHT-2" "telangiectasia" "" "0000207616" "01575" "00269825" "00006" "Familial, autosomal dominant" "66y" "recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history" "" "" "" "" "" "" "" "" "HHT-2" "telangiectasia" "" "0000207617" "01575" "00269826" "00006" "Familial, autosomal dominant" "71y" "recurrent epistaxis, telangiectasia; family history" "" "" "" "" "" "" "" "" "HHT-2" "telangiectasia" "" "0000207618" "01575" "00269827" "00006" "Familial, autosomal dominant" "68y" "recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history" "" "" "" "" "" "" "" "" "HHT-2" "telangiectasia" "" "0000244896" "00198" "00326433" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000244897" "00198" "00326434" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000310832" "00198" "00419551" "02300" "Isolated (sporadic)" "40y" "" "" "" "" "" "" "" "" "" "" "cardio and/or vascular abnormality" "" "0000310929" "00198" "00419648" "02300" "Isolated (sporadic)" "56y" "" "" "" "" "" "" "" "" "" "" "cardio and/or vascular abnormality" "" "0000350520" "02294" "00464520" "04817" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Vein of Galen aneurysmal malformation HP:0030713" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034722" "00034652" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034723" "00034653" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034724" "00034654" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034725" "00034655" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034726" "00034656" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034727" "00034657" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034728" "00034658" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034729" "00034659" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034730" "00034660" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034731" "00034661" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034732" "00034662" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034733" "00034663" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034734" "00034664" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034735" "00034665" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034736" "00034666" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034737" "00034667" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034738" "00034668" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000117809" "00117341" "1" "01741" "01741" "2017-08-18 11:39:49" "" "" "SEQ" "DNA" "" "" "0000208486" "00207450" "1" "00006" "00006" "2018-11-22 13:45:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "wgs" "0000208539" "00207502" "1" "00006" "00006" "2018-11-23 17:02:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "WGS" "0000208540" "00207503" "1" "00006" "00006" "2018-11-23 17:02:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "WGS" "0000208541" "00207504" "1" "00006" "00006" "2018-11-23 17:02:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "WGS" "0000208542" "00207505" "1" "00006" "00006" "2018-11-23 17:02:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "WGS" "0000208543" "00207506" "1" "00006" "00006" "2018-11-23 17:02:28" "00006" "2018-11-23 17:15:42" "SEQ" "DNA" "" "WGS" "0000208544" "00207507" "1" "00006" "00006" "2018-11-23 17:02:28" "00006" "2018-11-23 17:11:10" "SEQ" "DNA" "" "WGS" "0000208545" "00207508" "1" "00006" "00006" "2018-11-23 17:02:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "WGS" "0000270976" "00269824" "1" "00006" "00006" "2019-12-07 12:29:03" "" "" "SEQ" "DNA" "" "" "0000270977" "00269825" "1" "00006" "00006" "2019-12-07 12:29:03" "" "" "SEQ" "DNA" "" "" "0000270978" "00269826" "1" "00006" "00006" "2019-12-07 12:29:03" "" "" "SEQ" "DNA" "" "" "0000270979" "00269827" "1" "00006" "00006" "2019-12-07 12:29:03" "" "" "SEQ" "DNA" "" "" "0000291912" "00290744" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291913" "00290745" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000327647" "00326433" "1" "00006" "00006" "2021-01-12 13:51:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000327648" "00326434" "1" "00006" "00006" "2021-01-12 13:51:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000418941" "00417648" "1" "04384" "04384" "2022-09-21 10:55:57" "" "" "SEQ-NG" "DNA" "" "" "0000420855" "00419551" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420952" "00419648" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466158" "00464520" "1" "04817" "04817" "2025-03-20 16:23:44" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{geneid}}" "0000034722" "ACVRL1" "0000034723" "ACVRL1" "0000034724" "ACVRL1" "0000034725" "ACVRL1" "0000034726" "ACVRL1" "0000034727" "ACVRL1" "0000034728" "ACVRL1" "0000034729" "ACVRL1" "0000034730" "ACVRL1" "0000034731" "ACVRL1" "0000034732" "ACVRL1" "0000034733" "ACVRL1" "0000034734" "ACVRL1" "0000034735" "ACVRL1" "0000034736" "ACVRL1" "0000034737" "ACVRL1" "0000034738" "ACVRL1" "0000117809" "ACVRL1" "0000208486" "ACVRL1" "0000208539" "ACVRL1" "0000208540" "ACVRL1" "0000208541" "ACVRL1" "0000208542" "ACVRL1" "0000208543" "ACVRL1" "0000208544" "ACVRL1" "0000208545" "ACVRL1" "0000270976" "ACVRL1" "0000270977" "ACVRL1" "0000270978" "ACVRL1" "0000270979" "ACVRL1" "0000327647" "ACVRL1" "0000327648" "ACVRL1" "0000418941" "ACVRL1" "0000466158" "ACVRL1" ## 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 = 133 "{{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}}" "0000061841" "1" "10" "12" "52317057" "52317057" "subst" "0" "01164" "ACVRL1_000010" "g.52317057C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51923273C>G" "" "benign" "" "0000061842" "1" "10" "12" "52317075" "52317075" "subst" "0" "01164" "ACVRL1_000001" "g.52317075G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51923291G>A" "" "benign" "" "0000061843" "1" "10" "12" "52317225" "52317225" "subst" "0" "01164" "ACVRL1_000002" "g.52317225A>G" "" "" "" "" "" "Germline" "" "rs706821" "0" "" "" "g.51923441A>G" "" "benign" "" "0000061844" "1" "90" "12" "52309326" "52309326" "subst" "0" "01164" "ACVRL1_000003" "g.52309326G>A" "" "" "" "" "Alamut: no change of splice site usage" "Germline" "" "" "0" "" "" "g.51915542G>A" "" "pathogenic" "" "0000061845" "1" "90" "12" "52310017" "52310017" "subst" "0" "01164" "ACVRL1_000004" "g.52310017G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51916233G>A" "" "pathogenic" "" "0000061846" "1" "10" "12" "52301356" "52301356" "subst" "0" "01164" "ACVRL1_000014" "g.52301356G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51907572G>A" "" "benign" "" "0000061847" "1" "90" "12" "52312843" "52312843" "subst" "0" "01164" "ACVRL1_000005" "g.52312843G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51919059G>A" "" "pathogenic" "" "0000061848" "1" "90" "12" "52312847" "52312847" "subst" "0" "01164" "ACVRL1_000006" "g.52312847T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51919063T>C" "" "pathogenic" "" "0000061849" "1" "10" "12" "52312944" "52312944" "subst" "0.262867" "01164" "ACVRL1_000007" "g.52312944T>C" "Frequency up to 50%" "" "" "" "" "Germline" "" "rs706815" "0" "" "" "g.51919160T>C" "" "benign" "" "0000061850" "1" "10" "12" "52312964" "52312964" "subst" "0" "01164" "ACVRL1_000008" "g.52312964A>G" "Frequency up to 40%" "" "" "" "" "Germline" "" "rs706816" "0" "" "" "g.51919180A>G" "" "benign" "" "0000061851" "1" "90" "12" "52314599" "52314599" "subst" "0" "01164" "ACVRL1_000009" "g.52314599C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51920815C>T" "" "pathogenic" "" "0000061852" "1" "90" "12" "52307107" "52307107" "subst" "0" "01164" "ACVRL1_000016" "g.52307107A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51913323A>G" "" "pathogenic" "" "0000061853" "1" "10" "12" "52307145" "52307145" "subst" "0.403299" "01164" "ACVRL1_000017" "g.52307145C>T" "Frequency up to 40%" "" "" "" "" "Germline" "" "rs2071218" "0" "" "" "g.51913361C>T" "" "benign" "" "0000061854" "1" "10" "12" "52307308" "52307308" "subst" "0.404148" "01164" "ACVRL1_000011" "g.52307308A>G" "Frequency up to 39%" "" "" "" "" "Germline" "" "rs2071219" "0" "" "" "g.51913524A>G" "" "benign" "" "0000061855" "1" "10" "12" "52306221" "52306221" "subst" "0.0840781" "01164" "ACVRL1_000015" "g.52306221C>T" "Frequency up to 20%" "" "" "" "" "Germline" "" "rs2277382" "0" "" "" "g.51912437C>T" "" "benign" "" "0000061856" "0" "70" "12" "52308289" "52308291" "del" "0" "01164" "ACVRL1_000012" "g.52308289_52308291del" "" "" "" "" "positive segregation in the affected daughter (MGZ# 72382), negative segregation in the unaffected daughter. ACMG: PM2, PM4, PP4 (ENG analysed, no path variant detected) PP1; class 4" "Germline" "yes" "" "0" "" "" "g.51914505_51914507del" "" "likely pathogenic" "ACMG" "0000061857" "1" "90" "12" "52309162" "52309162" "del" "0" "01164" "ACVRL1_000013" "g.52309162del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51915378del" "" "pathogenic" "" "0000188823" "0" "70" "12" "52306958" "52306958" "subst" "0" "01741" "ACVRL1_000018" "g.52306958G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51913174G>T" "" "likely pathogenic" "" "0000251508" "0" "10" "12" "52310035" "52310035" "subst" "0" "02326" "ACVRL1_000062" "g.52310035A>C" "" "" "" "ACVRL1(NM_000020.2):c.1246+18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916251A>C" "" "benign" "" "0000251804" "0" "30" "12" "52309902" "52309902" "subst" "0.00230046" "02326" "ACVRL1_000054" "g.52309902A>G" "" "" "" "ACVRL1(NM_000020.2):c.1131A>G (p.A377=), ACVRL1(NM_000020.3):c.1131A>G (p.A377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916118A>G" "" "likely benign" "" "0000252421" "0" "70" "12" "52309239" "52309239" "subst" "0" "02326" "ACVRL1_000049" "g.52309239A>G" "" "" "" "ACVRL1(NM_000020.2):c.1003A>G (p.N335D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51915455A>G" "" "likely pathogenic" "" "0000252558" "0" "90" "12" "52309897" "52309897" "subst" "0" "02326" "ACVRL1_000052" "g.52309897A>G" "" "" "" "ACVRL1(NM_000020.2):c.1126A>G (p.M376V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916113A>G" "" "pathogenic" "" "0000252757" "0" "50" "12" "52307350" "52307350" "subst" "4.36087E-6" "02326" "ACVRL1_000027" "g.52307350A>C" "" "" "" "ACVRL1(NM_000020.2):c.321A>C (p.Q107H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913566A>C" "" "VUS" "" "0000257309" "0" "10" "12" "52314678" "52314678" "subst" "4.20574E-6" "02330" "ACVRL1_000073" "g.52314678C>G" "" "" "" "ACVRL1(NM_000020.3):c.*1C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920894C>G" "" "benign" "" "0000257310" "0" "30" "12" "52314610" "52314610" "subst" "0.00157984" "02330" "ACVRL1_000072" "g.52314610C>T" "" "" "" "ACVRL1(NM_000020.2):c.1445C>T (p.(Ala482Val), p.A482V), ACVRL1(NM_000020.3):c.1445C>T (p.A482V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920826C>T" "" "likely benign" "" "0000257311" "0" "10" "12" "52307145" "52307145" "subst" "0.403299" "02330" "ACVRL1_000017" "g.52307145C>T" "" "" "" "ACVRL1(NM_000020.2):c.313+11C>T, ACVRL1(NM_000020.3):c.313+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913361C>T" "" "benign" "" "0000257312" "0" "10" "12" "52307359" "52307359" "subst" "0.00462674" "02330" "ACVRL1_000028" "g.52307359G>A" "" "" "" "ACVRL1(NM_000020.2):c.330G>A (p.S110=), ACVRL1(NM_000020.3):c.330G>A (p.S110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913575G>A" "" "benign" "" "0000257313" "0" "10" "12" "52308344" "52308344" "subst" "0.0105881" "02330" "ACVRL1_000040" "g.52308344G>A" "" "" "" "ACVRL1(NM_000020.2):c.747G>A (p.V249=), ACVRL1(NM_000020.3):c.747G>A (p.V249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51914560G>A" "" "benign" "" "0000258724" "0" "10" "12" "52307145" "52307145" "subst" "0.403299" "02325" "ACVRL1_000017" "g.52307145C>T" "" "" "" "ACVRL1(NM_000020.2):c.313+11C>T, ACVRL1(NM_000020.3):c.313+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913361C>T" "" "benign" "" "0000259400" "0" "30" "12" "52307028" "52307028" "subst" "0.0016322" "02325" "ACVRL1_000026" "g.52307028C>T" "" "" "" "ACVRL1(NM_000020.2):c.207C>T (p.C69=), ACVRL1(NM_000020.3):c.207C>T (p.C69=, p.(Cys69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913244C>T" "" "likely benign" "" "0000259401" "0" "30" "12" "52306868" "52306868" "subst" "4.94702E-5" "02325" "ACVRL1_000019" "g.52306868C>T" "" "" "" "ACVRL1(NM_000020.3):c.62-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913084C>T" "" "likely benign" "" "0000259402" "0" "30" "12" "52306909" "52306909" "subst" "0.000263051" "02325" "ACVRL1_000021" "g.52306909C>T" "" "" "" "ACVRL1(NM_000020.3):c.88C>T (p.P30S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913125C>T" "" "likely benign" "" "0000259627" "0" "50" "12" "52307540" "52307540" "subst" "0.000127656" "02325" "ACVRL1_000033" "g.52307540G>A" "" "" "" "ACVRL1(NM_000020.3):c.511G>A (p.D171N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913756G>A" "" "VUS" "" "0000259931" "0" "30" "12" "52314610" "52314610" "subst" "0.00157984" "02329" "ACVRL1_000072" "g.52314610C>T" "" "" "" "ACVRL1(NM_000020.2):c.1445C>T (p.(Ala482Val), p.A482V), ACVRL1(NM_000020.3):c.1445C>T (p.A482V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920826C>T" "" "likely benign" "" "0000259932" "0" "10" "12" "52307028" "52307028" "subst" "0.0016322" "02329" "ACVRL1_000026" "g.52307028C>T" "" "" "" "ACVRL1(NM_000020.2):c.207C>T (p.C69=), ACVRL1(NM_000020.3):c.207C>T (p.C69=, p.(Cys69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913244C>T" "" "benign" "" "0000259933" "0" "10" "12" "52307359" "52307359" "subst" "0.00462674" "02329" "ACVRL1_000028" "g.52307359G>A" "" "" "" "ACVRL1(NM_000020.2):c.330G>A (p.S110=), ACVRL1(NM_000020.3):c.330G>A (p.S110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913575G>A" "" "benign" "" "0000259934" "0" "10" "12" "52308344" "52308344" "subst" "0.0105881" "02329" "ACVRL1_000040" "g.52308344G>A" "" "" "" "ACVRL1(NM_000020.2):c.747G>A (p.V249=), ACVRL1(NM_000020.3):c.747G>A (p.V249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51914560G>A" "" "benign" "" "0000259935" "0" "30" "12" "52306908" "52306908" "subst" "2.15478E-5" "02329" "ACVRL1_000020" "g.52306908C>T" "" "" "" "ACVRL1(NM_000020.3):c.87C>T (p.G29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913124C>T" "" "likely benign" "" "0000260546" "0" "90" "12" "52306927" "52306927" "subst" "0" "02326" "ACVRL1_000022" "g.52306927T>C" "" "" "" "ACVRL1(NM_000020.2):c.106T>C (p.C36R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913143T>C" "" "pathogenic" "" "0000260547" "0" "50" "12" "52309883" "52309883" "subst" "0" "02326" "ACVRL1_000050" "g.52309883G>A" "" "" "" "ACVRL1(NM_000020.2):c.1112G>A (p.G371D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916099G>A" "" "VUS" "" "0000260548" "0" "90" "12" "52309892" "52309892" "subst" "0" "02326" "ACVRL1_000051" "g.52309892G>A" "" "" "" "ACVRL1(NM_000020.2):c.1121G>A (p.R374Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916108G>A" "" "pathogenic" "" "0000260549" "0" "50" "12" "52309898" "52309898" "subst" "0" "02326" "ACVRL1_000053" "g.52309898T>C" "" "" "" "ACVRL1(NM_000020.2):c.1127T>C (p.M376T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916114T>C" "" "VUS" "" "0000260550" "0" "90" "12" "52309906" "52309906" "subst" "8.12843E-6" "02326" "ACVRL1_000055" "g.52309906G>A" "" "" "" "ACVRL1(NM_000020.2):c.1135G>A (p.E379K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916122G>A" "" "pathogenic" "" "0000260551" "0" "50" "12" "52309953" "52309953" "subst" "0" "02326" "ACVRL1_000056" "g.52309953G>C" "" "" "" "ACVRL1(NM_000020.2):c.1182G>C (p.K394N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916169G>C" "" "VUS" "" "0000260552" "0" "50" "12" "52309959" "52309959" "subst" "0" "02326" "ACVRL1_000057" "g.52309959T>A" "" "" "" "ACVRL1(NM_000020.2):c.1188T>A (p.T396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916175T>A" "" "VUS" "" "0000260553" "0" "90" "12" "52309960" "52309960" "subst" "0" "02326" "ACVRL1_000058" "g.52309960G>A" "" "" "" "ACVRL1(NM_000020.2):c.1189G>A (p.D397N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916176G>A" "" "pathogenic" "" "0000260554" "0" "90" "12" "52310002" "52310002" "subst" "0" "02326" "ACVRL1_000059" "g.52310002C>T" "" "" "" "ACVRL1(NM_000020.2):c.1231C>T (p.R411W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916218C>T" "" "pathogenic" "" "0000260555" "0" "90" "12" "52310003" "52310003" "subst" "8.14617E-6" "02326" "ACVRL1_000060" "g.52310003G>A" "" "" "" "ACVRL1(NM_000020.2):c.1232G>A (p.R411Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916219G>A" "" "pathogenic" "" "0000260556" "0" "10" "12" "52310036" "52310036" "subst" "0.00223082" "02326" "ACVRL1_000063" "g.52310036C>T" "" "" "" "ACVRL1(NM_000020.2):c.1246+19C>T, ACVRL1(NM_000020.3):c.1246+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916252C>T" "" "benign" "" "0000260557" "0" "10" "12" "52310026" "52310026" "subst" "0.00228145" "02326" "ACVRL1_000061" "g.52310026C>T" "" "" "" "ACVRL1(NM_000020.2):c.1246+9C>T, ACVRL1(NM_000020.3):c.1246+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51916242C>T" "" "benign" "" "0000260558" "0" "50" "12" "52312795" "52312795" "subst" "0" "02326" "ACVRL1_000064" "g.52312795T>G" "" "" "" "ACVRL1(NM_000020.2):c.1273T>G (p.F425V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51919011T>G" "" "VUS" "" "0000260559" "0" "90" "12" "52312835" "52312835" "subst" "0" "02326" "ACVRL1_000065" "g.52312835T>C" "" "" "" "ACVRL1(NM_000020.2):c.1313T>C (p.M438T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51919051T>C" "" "pathogenic" "" "0000260560" "0" "50" "12" "52306957" "52306957" "subst" "0" "02326" "ACVRL1_000023" "g.52306957T>G" "" "" "" "ACVRL1(NM_000020.2):c.136T>G (p.C46G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913173T>G" "" "VUS" "" "0000260561" "0" "50" "12" "52314570" "52314570" "subst" "1.21856E-5" "02326" "ACVRL1_000066" "g.52314570C>A" "" "" "" "ACVRL1(NM_000020.2):c.1405C>A (p.R469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920786C>A" "" "VUS" "" "0000260562" "0" "90" "12" "52314573" "52314573" "subst" "0" "02326" "ACVRL1_000067" "g.52314573G>T" "" "" "" "ACVRL1(NM_000020.2):c.1408G>T (p.E470*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920789G>T" "" "pathogenic" "" "0000260563" "0" "50" "12" "52314576" "52314576" "subst" "0" "02326" "ACVRL1_000068" "g.52314576T>C" "" "" "" "ACVRL1(NM_000020.2):c.1411T>C (p.C471R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920792T>C" "" "VUS" "" "0000260564" "0" "70" "12" "52314579" "52314579" "subst" "0" "02326" "ACVRL1_000069" "g.52314579T>C" "" "" "" "ACVRL1(NM_000020.2):c.1414T>C (p.W472R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920795T>C" "" "likely pathogenic" "" "0000260565" "0" "90" "12" "52314580" "52314580" "subst" "0" "02326" "ACVRL1_000070" "g.52314580G>A" "" "" "" "ACVRL1(NM_000020.2):c.1415G>A (p.W472*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920796G>A" "" "pathogenic" "" "0000260566" "0" "50" "12" "52306963" "52306963" "subst" "0" "02326" "ACVRL1_000024" "g.52306963G>A" "" "" "" "ACVRL1(NM_000020.2):c.142G>A (p.G48R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913179G>A" "" "VUS" "" "0000260567" "0" "90" "12" "52314600" "52314600" "subst" "4.06151E-6" "02326" "ACVRL1_000071" "g.52314600C>T" "" "" "" "ACVRL1(NM_000020.2):c.1435C>T (p.R479*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920816C>T" "" "pathogenic" "" "0000260568" "0" "10" "12" "52314610" "52314610" "subst" "0.00157984" "02326" "ACVRL1_000072" "g.52314610C>T" "" "" "" "ACVRL1(NM_000020.2):c.1445C>T (p.(Ala482Val), p.A482V), ACVRL1(NM_000020.3):c.1445C>T (p.A482V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51920826C>T" "" "benign" "" "0000260569" "0" "90" "12" "52307020" "52307020" "subst" "0" "02326" "ACVRL1_000025" "g.52307020C>T" "" "" "" "ACVRL1(NM_000020.2):c.199C>T (p.R67W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913236C>T" "" "pathogenic" "" "0000260570" "0" "10" "12" "52307145" "52307145" "subst" "0.403299" "02326" "ACVRL1_000017" "g.52307145C>T" "" "" "" "ACVRL1(NM_000020.2):c.313+11C>T, ACVRL1(NM_000020.3):c.313+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913361C>T" "" "benign" "" "0000260571" "0" "90" "12" "52307369" "52307369" "subst" "0" "02326" "ACVRL1_000029" "g.52307369G>T" "" "" "" "ACVRL1(NM_000020.2):c.340G>T (p.G114*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913585G>T" "" "pathogenic" "" "0000260572" "0" "90" "12" "52307381" "52307381" "subst" "0" "02326" "ACVRL1_000030" "g.52307381C>T" "" "" "" "ACVRL1(NM_000020.2):c.352C>T (p.Q118*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913597C>T" "" "pathogenic" "" "0000260573" "0" "90" "12" "52307459" "52307459" "subst" "0" "02326" "ACVRL1_000031" "g.52307459C>T" "" "" "" "ACVRL1(NM_000020.2):c.430C>T (p.R144*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913675C>T" "" "pathogenic" "" "0000260574" "0" "90" "12" "52307468" "52307468" "subst" "0" "02326" "ACVRL1_000032" "g.52307468C>T" "" "" "" "ACVRL1(NM_000020.2):c.439C>T (p.Q147*), ACVRL1(NM_000020.3):c.439C>T (p.Q147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913684C>T" "" "pathogenic" "" "0000260575" "0" "50" "12" "52307745" "52307745" "subst" "0" "02326" "ACVRL1_000034" "g.52307745T>A" "" "" "" "ACVRL1(NM_000020.2):c.526-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51913961T>A" "" "VUS" "" "0000260576" "0" "50" "12" "52307831" "52307831" "subst" "0" "02326" "ACVRL1_000035" "g.52307831G>A" "" "" "" "ACVRL1(NM_000020.2):c.599G>A (p.R200Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51914047G>A" "" "VUS" "" "0000260577" "0" "90" "12" "52308220" "52308220" "subst" "0" "02326" "ACVRL1_000036" "g.52308220C>G" "" "" "" "ACVRL1(NM_000020.2):c.626-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51914436C>G" "" "pathogenic" "" "0000260578" "0" "50" "12" "52308240" "52308240" "subst" "4.06726E-6" "02326" "ACVRL1_000037" "g.52308240G>A" "" "" "" "ACVRL1(NM_000020.2):c.643G>A (p.E215K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51914456G>A" "" "VUS" "" "0000260579" "0" "50" "12" "52308252" "52308252" "subst" "0" "02326" "ACVRL1_000038" "g.52308252G>C" "" "" "" "ACVRL1(NM_000020.2):c.655G>C (p.G219R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51914468G>C" "" "VUS" "" "0000260580" "0" "50" "12" "52308263" "52308263" "subst" "0.000154863" "02326" "ACVRL1_000039" "g.52308263C>T" "" "" "" "ACVRL1(NM_000020.2):c.666C>T (p.H222=), ACVRL1(NM_000020.3):c.666C>T (p.H222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51914479C>T" "" "VUS" "" "0000260581" "0" "10" "12" "52308344" "52308344" "subst" "0.0105881" "02326" "ACVRL1_000040" "g.52308344G>A" "" "" "" "ACVRL1(NM_000020.2):c.747G>A (p.V249=), ACVRL1(NM_000020.3):c.747G>A (p.V249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51914560G>A" "" "benign" "" "0000260582" "0" "90" "12" "52309054" "52309054" "subst" "0" "02326" "ACVRL1_000041" "g.52309054T>C" "" "" "" "ACVRL1(NM_000020.2):c.818T>C (p.L273P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51915270T>C" "" "pathogenic" "" "0000260583" "0" "90" "12" "52309094" "52309094" "subst" "0" "02326" "ACVRL1_000042" "g.52309094C>A" "" "" "" "ACVRL1(NM_000020.2):c.858C>A (p.Y286*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51915310C>A" "" "pathogenic" "" "0000260584" "0" "50" "12" "52309162" "52309162" "subst" "0" "02326" "ACVRL1_000043" "g.52309162G>T" "" "" "" "ACVRL1(NM_000020.2):c.926G>T (p.G309V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51915378G>T" "" "VUS" "" "0000260585" "0" "70" "12" "52309174" "52309174" "subst" "0" "02326" "ACVRL1_000045" "g.52309174T>A" "" "" "" "ACVRL1(NM_000020.2):c.938T>A (p.L313Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51915390T>A" "" "likely pathogenic" "" "0000260586" "0" "70" "12" "52309186" "52309186" "subst" "0" "02326" "ACVRL1_000046" "g.52309186T>G" "" "" "" "ACVRL1(NM_000020.2):c.950T>G (p.I317S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51915402T>G" "" "likely pathogenic" "" "0000260587" "0" "90" "12" "52309224" "52309224" "subst" "0" "02326" "ACVRL1_000047" "g.52309224G>A" "" "" "" "ACVRL1(NM_000020.2):c.988G>A (p.D330N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51915440G>A" "" "pathogenic" "" "0000260588" "0" "70" "12" "52309224" "52309224" "subst" "0" "02326" "ACVRL1_000048" "g.52309224G>T" "" "" "" "ACVRL1(NM_000020.2):c.988G>T (p.D330Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51915440G>T" "" "likely pathogenic" "" "0000438412" "21" "90" "12" "52314327" "52314327" "subst" "0" "00006" "ACVRL1_000074" "g.52314327C>G" "" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51920543C>G" "" "pathogenic (dominant)" "" "0000438413" "0" "30" "12" "52314327" "52314327" "subst" "0" "00006" "ACVRL1_000075" "g.52314327C>T" "" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "" "" "Germline" "" "rs111710113" "0" "" "" "g.51920543C>T" "" "likely benign" "" "0000438417" "21" "90" "12" "0" "0" "" "0" "00006" "ACVRL1_000081" "g.52312101_qterdelins[G;NC_000003.11:pter_48252146inv]" "" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "" "other translocation not described" "Germline" "" "" "0" "" "t(12,3)(q13,p21)" "" "" "pathogenic (dominant)" "" "0000438418" "0" "90" "12" "52314269" "52314269" "subst" "0" "00006" "ACVRL1_000076" "g.52314269C>G" "" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "" "" "Germline" "" "" "0" "" "" "g.51920485C>G" "" "pathogenic (dominant)" "" "0000438419" "1" "90" "12" "52314387" "52314388" "inv" "0" "00006" "ACVRL1_000080" "g.52314387_52314388inv" "" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "" "" "Germline" "" "" "0" "" "" "g.51920603_51920604inv" "" "pathogenic (dominant)" "" "0000438420" "1" "90" "12" "52314412" "52314412" "subst" "0" "00006" "ACVRL1_000079" "g.52314412C>G" "" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "" "" "Germline" "" "" "0" "" "" "g.51920628C>G" "" "pathogenic (dominant)" "" "0000438421" "1" "90" "12" "52314465" "52314465" "subst" "0" "00006" "ACVRL1_000078" "g.52314465T>G" "" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "" "" "Germline" "" "" "0" "" "" "g.51920681T>G" "" "pathogenic (dominant)" "" "0000438422" "1" "90" "12" "52314474" "52314474" "subst" "0" "00006" "ACVRL1_000077" "g.52314474C>A" "" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "" "" "Germline" "" "" "0" "" "" "g.51920690C>A" "" "pathogenic (dominant)" "" "0000438423" "1" "90" "12" "52314474" "52314474" "subst" "0" "00006" "ACVRL1_000077" "g.52314474C>A" "" "{PMID:Wooderchak-Donahue 2018:30244195}" "" "" "" "Germline" "" "" "0" "" "" "g.51920690C>A" "" "pathogenic (dominant)" "" "0000548523" "0" "50" "12" "52306991" "52306991" "subst" "2.52174E-5" "02330" "ACVRL1_000083" "g.52306991G>A" "" "" "" "ACVRL1(NM_000020.2):c.170G>A (p.R57Q), ACVRL1(NM_000020.3):c.170G>A (p.R57Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51913207G>A" "" "VUS" "" "0000548524" "0" "30" "12" "52306991" "52306991" "subst" "2.52174E-5" "02329" "ACVRL1_000083" "g.52306991G>A" "" "" "" "ACVRL1(NM_000020.2):c.170G>A (p.R57Q), ACVRL1(NM_000020.3):c.170G>A (p.R57Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51913207G>A" "" "likely benign" "" "0000548525" "0" "90" "12" "52307135" "52307135" "subst" "0" "02326" "ACVRL1_000084" "g.52307135G>A" "" "" "" "ACVRL1(NM_000020.2):c.313+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51913351G>A" "" "pathogenic" "" "0000548526" "0" "30" "12" "52307405" "52307405" "subst" "0.000106173" "02325" "ACVRL1_000085" "g.52307405G>A" "" "" "" "ACVRL1(NM_000020.3):c.376G>A (p.V126M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51913621G>A" "" "likely benign" "" "0000548527" "0" "70" "12" "52307857" "52307857" "subst" "0" "02327" "ACVRL1_000086" "g.52307857G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51914073G>C" "" "likely pathogenic" "" "0000548528" "0" "50" "12" "52309891" "52309891" "subst" "0" "02326" "ACVRL1_000087" "g.52309891C>T" "" "" "" "ACVRL1(NM_000020.2):c.1120C>T (p.R374W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51916107C>T" "" "VUS" "" "0000548529" "0" "50" "12" "52309918" "52309918" "subst" "0" "02326" "ACVRL1_000088" "g.52309918G>T" "" "" "" "ACVRL1(NM_000020.2):c.1147G>T (p.E383*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51916134G>T" "" "VUS" "" "0000614283" "0" "30" "12" "52309902" "52309902" "subst" "0.00230046" "02330" "ACVRL1_000054" "g.52309902A>G" "" "" "" "ACVRL1(NM_000020.2):c.1131A>G (p.A377=), ACVRL1(NM_000020.3):c.1131A>G (p.A377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51916118A>G" "" "likely benign" "" "0000614284" "0" "10" "12" "52310026" "52310026" "subst" "0.00228145" "02330" "ACVRL1_000061" "g.52310026C>T" "" "" "" "ACVRL1(NM_000020.2):c.1246+9C>T, ACVRL1(NM_000020.3):c.1246+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51916242C>T" "" "benign" "" "0000614285" "0" "10" "12" "52310036" "52310036" "subst" "0.00223082" "02330" "ACVRL1_000063" "g.52310036C>T" "" "" "" "ACVRL1(NM_000020.2):c.1246+19C>T, ACVRL1(NM_000020.3):c.1246+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51916252C>T" "" "benign" "" "0000624805" "1" "90" "12" "52314616" "52314616" "subst" "0" "00006" "ACVRL1_000090" "g.52314616G>A" "" "{PMID:Snellings 2019:31630786}" "" "" "2/2 telangiectasias have somatic ACVRL1 variant" "Germline" "" "" "0" "" "" "g.51920832G>A" "" "pathogenic (dominant)" "" "0000624806" "1" "90" "12" "52307503" "52307503" "subst" "0" "00006" "ACVRL1_000089" "g.52307503A>T" "" "{PMID:Snellings 2019:31630786}" "" "" "telangiectasia has somatic ACVRL1 variant" "Germline" "" "" "0" "" "" "g.51913719A>T" "" "pathogenic (dominant)" "" "0000624807" "1" "90" "12" "52310003" "52310003" "subst" "8.14617E-6" "00006" "ACVRL1_000060" "g.52310003G>A" "" "{PMID:Snellings 2019:31630786}" "" "" "2/2 telangiectasias do not have somatic ACVRL1 variant" "Germline" "" "" "0" "" "" "g.51916219G>A" "" "pathogenic (dominant)" "" "0000624808" "1" "90" "12" "52310003" "52310003" "subst" "8.14617E-6" "00006" "ACVRL1_000060" "g.52310003G>A" "" "{PMID:Snellings 2019:31630786}" "" "" "telangiectasia has somatic ACVRL1 variant" "Germline" "" "" "0" "" "" "g.51916219G>A" "" "pathogenic (dominant)" "" "0000648601" "1" "70" "12" "52309222" "52309222" "subst" "0" "03575" "ACVRL1_000091" "g.52309222G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863223412}" "Germline" "" "rs863223412" "0" "" "" "g.51915438G>A" "" "likely pathogenic" "" "0000648602" "1" "90" "12" "52310002" "52310002" "subst" "0" "03575" "ACVRL1_000059" "g.52310002C>T" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121909287}" "Germline" "" "rs121909287" "0" "" "" "g.51916218C>T" "" "pathogenic" "" "0000657147" "0" "30" "12" "52314610" "52314610" "subst" "0.00157984" "01804" "ACVRL1_000072" "g.52314610C>T" "" "" "" "ACVRL1(NM_000020.2):c.1445C>T (p.(Ala482Val), p.A482V), ACVRL1(NM_000020.3):c.1445C>T (p.A482V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51920826C>T" "" "likely benign" "" "0000679579" "0" "30" "12" "52306908" "52306908" "subst" "2.15478E-5" "02330" "ACVRL1_000020" "g.52306908C>T" "" "" "" "ACVRL1(NM_000020.3):c.87C>T (p.G29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679580" "0" "30" "12" "52308266" "52308266" "subst" "0" "02330" "ACVRL1_000092" "g.52308266T>G" "" "" "" "ACVRL1(NM_000020.3):c.669T>G (p.G223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679581" "0" "10" "12" "52309229" "52309229" "subst" "0.000424195" "02330" "ACVRL1_000093" "g.52309229C>T" "" "" "" "ACVRL1(NM_000020.3):c.993C>T (p.F331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000711430" "21" "50" "12" "52308249" "52308249" "subst" "0.000354723" "00006" "ACVRL1_000094" "g.52308249C>T" "" "{PMID:Wang 2018:30120215}" "" "" "" "Germline" "" "" "0" "" "" "g.51914465C>T" "" "VUS" "" "0000711431" "21" "50" "12" "52309874" "52309874" "subst" "8.13756E-6" "00006" "ACVRL1_000095" "g.52309874C>T" "" "{PMID:Wang 2018:30120215}" "" "" "" "Germline" "" "" "0" "" "" "g.51916090C>T" "" "VUS" "" "0000724128" "0" "50" "12" "52306991" "52306991" "subst" "2.52174E-5" "02325" "ACVRL1_000083" "g.52306991G>A" "" "" "" "ACVRL1(NM_000020.2):c.170G>A (p.R57Q), ACVRL1(NM_000020.3):c.170G>A (p.R57Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805820" "0" "10" "12" "52308164" "52308164" "subst" "0" "02369" "ACVRL1_000096" "g.52308164G>T" "" "" "" "ACVRL1(NM_000020.2):c.626-59G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805821" "0" "10" "12" "52308164" "52308164" "del" "0" "02369" "ACVRL1_000097" "g.52308164del" "" "" "" "ACVRL1(NM_000020.2):c.626-59delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805822" "0" "30" "12" "52308204" "52308204" "subst" "1.22495E-5" "02369" "ACVRL1_000098" "g.52308204C>T" "" "" "" "ACVRL1(NM_000020.2):c.626-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805823" "0" "30" "12" "52308263" "52308263" "subst" "0.000154863" "02330" "ACVRL1_000039" "g.52308263C>T" "" "" "" "ACVRL1(NM_000020.2):c.666C>T (p.H222=), ACVRL1(NM_000020.3):c.666C>T (p.H222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863043" "0" "90" "12" "52307468" "52307468" "subst" "0" "02330" "ACVRL1_000032" "g.52307468C>T" "" "" "" "ACVRL1(NM_000020.2):c.439C>T (p.Q147*), ACVRL1(NM_000020.3):c.439C>T (p.Q147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000878856" "0" "90" "12" "52307862" "52307862" "subst" "0" "04384" "ACVRL1_000099" "g.52307862G>C" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000881214" "0" "90" "12" "52310003" "52310003" "subst" "8.14617E-6" "02300" "ACVRL1_000060" "g.52310003G>A" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001077401.1:c.1232G>A (Arg411Gln)" "ACMG PM1, PM5, PP2, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs121909284" "0" "" "" "g.51916219G>A" "" "pathogenic (dominant)" "ACMG" "0000881311" "0" "70" "12" "52309969" "52309969" "subst" "0" "02300" "ACVRL1_000100" "g.52309969G>C" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001077401.2:c.1198G>C (Ala400Pro)" "ACMG PM1, PM2, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.51916185G>C" "" "likely pathogenic (dominant)" "ACMG" "0000890668" "0" "50" "12" "52308244" "52308244" "subst" "0" "02325" "ACVRL1_000101" "g.52308244T>C" "" "" "" "ACVRL1(NM_000020.3):c.647T>C (p.V216A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913883" "0" "50" "12" "52309258" "52309258" "subst" "1.23168E-5" "02325" "ACVRL1_000102" "g.52309258A>G" "" "" "" "ACVRL1(NM_000020.3):c.1022A>G (p.N341S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949988" "0" "30" "12" "52310010" "52310010" "subst" "1.63086E-5" "02326" "ACVRL1_000103" "g.52310010C>T" "" "" "" "ACVRL1(NM_000020.2):c.1239C>T (p.I413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966971" "0" "10" "12" "52307028" "52307028" "subst" "0.0016322" "02330" "ACVRL1_000026" "g.52307028C>T" "" "" "" "ACVRL1(NM_000020.2):c.207C>T (p.C69=), ACVRL1(NM_000020.3):c.207C>T (p.C69=, p.(Cys69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980353" "0" "10" "12" "52307028" "52307028" "subst" "0.0016322" "02326" "ACVRL1_000026" "g.52307028C>T" "" "" "" "ACVRL1(NM_000020.2):c.207C>T (p.C69=), ACVRL1(NM_000020.3):c.207C>T (p.C69=, p.(Cys69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014993" "0" "10" "12" "52308261" "52308261" "subst" "9.78897E-5" "02330" "ACVRL1_000104" "g.52308261C>T" "" "" "" "ACVRL1(NM_000020.3):c.664C>T (p.H222Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026204" "0" "90" "12" "52309278" "52309278" "del" "0" "02330" "ACVRL1_000105" "g.52309278del" "" "" "" "ACVRL1(NM_000020.3):c.1042delG (p.D348Tfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001030010" "0" "70" "12" "52309009" "52309009" "subst" "0" "04817" "ACVRL1_000106" "g.52309009G>A" "" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "" "Germline" "" "" "0" "" "" "g.51915225G>A" "No" "likely pathogenic" "ACMG" "0001039321" "0" "30" "12" "52307028" "52307028" "subst" "0.0016322" "01804" "ACVRL1_000026" "g.52307028C>T" "" "" "" "ACVRL1(NM_000020.2):c.207C>T (p.C69=), ACVRL1(NM_000020.3):c.207C>T (p.C69=, p.(Cys69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039322" "0" "50" "12" "52309077" "52309077" "subst" "0" "01804" "ACVRL1_000107" "g.52309077G>C" "" "" "" "ACVRL1(NM_000020.3):c.841G>C (p.(Glu281Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046387" "0" "50" "12" "52308279" "52308279" "subst" "4.06633E-6" "02325" "ACVRL1_000108" "g.52308279G>A" "" "" "" "ACVRL1(NM_000020.3):c.682G>A (p.V228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047032" "0" "90" "12" "52314577" "52314577" "subst" "0" "03779" "ACVRL1_000109" "g.52314577G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 ACVRL1 ## Count = 133 "{{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}}" "0000061841" "00002053" "10" "3892" "0" "3892" "0" "c.*2380C>G" "r.(=)" "p.(=)" "" "0000061842" "00002053" "10" "3910" "0" "3910" "0" "c.*2398G>A" "r.(=)" "p.(=)" "" "0000061843" "00002053" "10" "4060" "0" "4060" "0" "c.*2548A>G" "r.(=)" "p.(=)" "" "0000061844" "00002053" "90" "1048" "42" "1048" "42" "c.1048+42G>A" "r.(=)" "p.(=)" "" "0000061845" "00002053" "90" "1246" "0" "1246" "0" "c.1246G>A" "r.(?)" "p.(Gly416Ser)" "" "0000061846" "00002053" "10" "-129" "0" "-129" "0" "c.-129G>A" "r.(=)" "p.(=)" "" "0000061847" "00002053" "90" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Val441Met)" "" "0000061848" "00002053" "90" "1325" "0" "1325" "0" "c.1325T>C" "r.(?)" "p.(Val442Ala)" "" "0000061849" "00002053" "10" "1377" "45" "1377" "45" "c.1377+45T>C" "r.(=)" "p.(=)" "" "0000061850" "00002053" "10" "1377" "65" "1377" "65" "c.1377+65A>G" "r.(=)" "p.(=)" "" "0000061851" "00002053" "90" "1434" "0" "1434" "0" "c.1434C>T" "r.(=)" "p.(=)" "" "0000061852" "00002053" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "" "0000061853" "00002053" "10" "313" "11" "313" "11" "c.313+11C>T" "r.(=)" "p.(=)" "" "0000061854" "00002053" "10" "314" "-35" "314" "-35" "c.314-35A>G" "r.(=)" "p.(=)" "" "0000061855" "00002053" "10" "-5" "-33" "-5" "-33" "c.-5-33C>T" "r.(=)" "p.(=)" "" "0000061856" "00002053" "70" "692" "0" "694" "0" "c.692_694del" "r.(?)" "p.(Phe231del)" "6" "0000061857" "00002053" "90" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Gly309Alafs*45)" "" "0000188823" "00002053" "70" "137" "0" "137" "0" "c.137G>T" "r.(?)" "p.(Cys46Phe)" "3" "0000251508" "00002053" "10" "1246" "18" "1246" "18" "c.1246+18A>C" "r.(=)" "p.(=)" "" "0000251804" "00002053" "30" "1131" "0" "1131" "0" "c.1131A>G" "r.(?)" "p.(Ala377=)" "" "0000252421" "00002053" "70" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Asn335Asp)" "" "0000252558" "00002053" "90" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Met376Val)" "" "0000252757" "00002053" "50" "321" "0" "321" "0" "c.321A>C" "r.(?)" "p.(Gln107His)" "" "0000257309" "00002053" "10" "1513" "0" "1513" "0" "c.*1C>G" "r.(=)" "p.(=)" "" "0000257310" "00002053" "30" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Ala482Val)" "" "0000257311" "00002053" "10" "313" "11" "313" "11" "c.313+11C>T" "r.(=)" "p.(=)" "" "0000257312" "00002053" "10" "330" "0" "330" "0" "c.330G>A" "r.(?)" "p.(Ser110=)" "" "0000257313" "00002053" "10" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Val249=)" "" "0000258724" "00002053" "10" "313" "11" "313" "11" "c.313+11C>T" "r.(=)" "p.(=)" "" "0000259400" "00002053" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Cys69=)" "" "0000259401" "00002053" "30" "62" "-15" "62" "-15" "c.62-15C>T" "r.(=)" "p.(=)" "" "0000259402" "00002053" "30" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Pro30Ser)" "" "0000259627" "00002053" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Asp171Asn)" "" "0000259931" "00002053" "30" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Ala482Val)" "" "0000259932" "00002053" "10" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Cys69=)" "" "0000259933" "00002053" "10" "330" "0" "330" "0" "c.330G>A" "r.(?)" "p.(Ser110=)" "" "0000259934" "00002053" "10" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Val249=)" "" "0000259935" "00002053" "30" "87" "0" "87" "0" "c.87C>T" "r.(?)" "p.(Gly29=)" "" "0000260546" "00002053" "90" "106" "0" "106" "0" "c.106T>C" "r.(?)" "p.(Cys36Arg)" "" "0000260547" "00002053" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Gly371Asp)" "" "0000260548" "00002053" "90" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Arg374Gln)" "" "0000260549" "00002053" "50" "1127" "0" "1127" "0" "c.1127T>C" "r.(?)" "p.(Met376Thr)" "" "0000260550" "00002053" "90" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Glu379Lys)" "" "0000260551" "00002053" "50" "1182" "0" "1182" "0" "c.1182G>C" "r.(?)" "p.(Lys394Asn)" "" "0000260552" "00002053" "50" "1188" "0" "1188" "0" "c.1188T>A" "r.(?)" "p.(Thr396=)" "" "0000260553" "00002053" "90" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Asp397Asn)" "" "0000260554" "00002053" "90" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Arg411Trp)" "" "0000260555" "00002053" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411Gln)" "" "0000260556" "00002053" "10" "1246" "19" "1246" "19" "c.1246+19C>T" "r.(=)" "p.(=)" "" "0000260557" "00002053" "10" "1246" "9" "1246" "9" "c.1246+9C>T" "r.(=)" "p.(=)" "" "0000260558" "00002053" "50" "1273" "0" "1273" "0" "c.1273T>G" "r.(?)" "p.(Phe425Val)" "" "0000260559" "00002053" "90" "1313" "0" "1313" "0" "c.1313T>C" "r.(?)" "p.(Met438Thr)" "" "0000260560" "00002053" "50" "136" "0" "136" "0" "c.136T>G" "r.(?)" "p.(Cys46Gly)" "" "0000260561" "00002053" "50" "1405" "0" "1405" "0" "c.1405C>A" "r.(?)" "p.(Arg469=)" "" "0000260562" "00002053" "90" "1408" "0" "1408" "0" "c.1408G>T" "r.(?)" "p.(Glu470Ter)" "" "0000260563" "00002053" "50" "1411" "0" "1411" "0" "c.1411T>C" "r.(?)" "p.(Cys471Arg)" "" "0000260564" "00002053" "70" "1414" "0" "1414" "0" "c.1414T>C" "r.(?)" "p.(Trp472Arg)" "" "0000260565" "00002053" "90" "1415" "0" "1415" "0" "c.1415G>A" "r.(?)" "p.(Trp472Ter)" "" "0000260566" "00002053" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Gly48Arg)" "" "0000260567" "00002053" "90" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479Ter)" "" "0000260568" "00002053" "10" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Ala482Val)" "" "0000260569" "00002053" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Trp)" "" "0000260570" "00002053" "10" "313" "11" "313" "11" "c.313+11C>T" "r.(=)" "p.(=)" "" "0000260571" "00002053" "90" "340" "0" "340" "0" "c.340G>T" "r.(?)" "p.(Gly114Ter)" "" "0000260572" "00002053" "90" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Gln118Ter)" "" "0000260573" "00002053" "90" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144Ter)" "" "0000260574" "00002053" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147Ter)" "" "0000260575" "00002053" "50" "526" "-13" "526" "-13" "c.526-13T>A" "r.(=)" "p.(=)" "" "0000260576" "00002053" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200Gln)" "" "0000260577" "00002053" "90" "626" "-3" "626" "-3" "c.626-3C>G" "r.spl?" "p.?" "" "0000260578" "00002053" "50" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Glu215Lys)" "" "0000260579" "00002053" "50" "655" "0" "655" "0" "c.655G>C" "r.(?)" "p.(Gly219Arg)" "" "0000260580" "00002053" "50" "666" "0" "666" "0" "c.666C>T" "r.(?)" "p.(His222=)" "" "0000260581" "00002053" "10" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Val249=)" "" "0000260582" "00002053" "90" "818" "0" "818" "0" "c.818T>C" "r.(?)" "p.(Leu273Pro)" "" "0000260583" "00002053" "90" "858" "0" "858" "0" "c.858C>A" "r.(?)" "p.(Tyr286Ter)" "" "0000260584" "00002053" "50" "926" "0" "926" "0" "c.926G>T" "r.(?)" "p.(Gly309Val)" "" "0000260585" "00002053" "70" "938" "0" "938" "0" "c.938T>A" "r.(?)" "p.(Leu313Gln)" "" "0000260586" "00002053" "70" "950" "0" "950" "0" "c.950T>G" "r.(?)" "p.(Ile317Ser)" "" "0000260587" "00002053" "90" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Asp330Asn)" "" "0000260588" "00002053" "70" "988" "0" "988" "0" "c.988G>T" "r.(?)" "p.(Asp330Tyr)" "" "0000438412" "00002053" "90" "1378" "-216" "1378" "-216" "c.1378-216C>G" "r.1377_1378ins1378-215_1378-1" "p.(=)" "9i" "0000438413" "00002053" "30" "1378" "-216" "1378" "-216" "c.1378-216C>T" "r.(?)" "p.(=)" "9i" "0000438417" "00002053" "90" "0" "" "0" "" "c.1348-769::?" "r.?" "p.?" "9i" "0000438418" "00002053" "90" "1378" "-274" "1378" "-274" "c.1378-274C>G" "r.1377_1378ins1378-273_1378-1" "p.(=)" "9i" "0000438419" "00002053" "90" "1378" "-156" "1378" "-155" "c.1378-156_1378-155inv" "r.1377_1378ins1378-154_1378-1" "p.(=)" "9i" "0000438420" "00002053" "90" "1378" "-131" "1378" "-131" "c.1378-131C>G" "r.1377_1378ins1378-130_1378-1" "p.(=)" "9i" "0000438421" "00002053" "90" "1378" "-78" "1378" "-78" "c.1378-78T>G" "r.(1377_1378ins1378-77_1378-1)" "p.(=)" "9i" "0000438422" "00002053" "90" "1378" "-69" "1378" "-69" "c.1378-69C>A" "r.1377_1378ins1378-67_1378-1" "p.(=)" "9i" "0000438423" "00002053" "90" "1378" "-69" "1378" "-69" "c.1378-69C>A" "r.1377_1378ins1378-67_1378-1" "p.(=)" "9i" "0000548523" "00002053" "50" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Arg57Gln)" "" "0000548524" "00002053" "30" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Arg57Gln)" "" "0000548525" "00002053" "90" "313" "1" "313" "1" "c.313+1G>A" "r.spl?" "p.?" "" "0000548526" "00002053" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000548527" "00002053" "70" "625" "0" "625" "0" "c.625G>C" "r.(?)" "p.(Gly209Arg)" "" "0000548528" "00002053" "50" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Trp)" "" "0000548529" "00002053" "50" "1147" "0" "1147" "0" "c.1147G>T" "r.(?)" "p.(Glu383Ter)" "" "0000614283" "00002053" "30" "1131" "0" "1131" "0" "c.1131A>G" "r.(?)" "p.(Ala377=)" "" "0000614284" "00002053" "10" "1246" "9" "1246" "9" "c.1246+9C>T" "r.(=)" "p.(=)" "" "0000614285" "00002053" "10" "1246" "19" "1246" "19" "c.1246+19C>T" "r.(=)" "p.(=)" "" "0000624805" "00002053" "90" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Gln)" "" "0000624806" "00002053" "90" "474" "0" "474" "0" "c.474A>T" "r.spl" "p.(Gly158=)" "" "0000624807" "00002053" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411Gln)" "" "0000624808" "00002053" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411Gln)" "" "0000648601" "00002053" "70" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000648602" "00002053" "90" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Arg411Trp)" "" "0000657147" "00002053" "30" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Ala482Val)" "" "0000679579" "00002053" "30" "87" "0" "87" "0" "c.87C>T" "r.(?)" "p.(Gly29=)" "" "0000679580" "00002053" "30" "669" "0" "669" "0" "c.669T>G" "r.(?)" "p.(Gly223=)" "" "0000679581" "00002053" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Phe331=)" "" "0000711430" "00002053" "50" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "" "0000711431" "00002053" "50" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Pro368Leu)" "" "0000724128" "00002053" "50" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Arg57Gln)" "" "0000805820" "00002053" "10" "626" "-59" "626" "-59" "c.626-59G>T" "r.(=)" "p.(=)" "" "0000805821" "00002053" "10" "626" "-59" "626" "-59" "c.626-59del" "r.(=)" "p.(=)" "" "0000805822" "00002053" "30" "626" "-19" "626" "-19" "c.626-19C>T" "r.(=)" "p.(=)" "" "0000805823" "00002053" "30" "666" "0" "666" "0" "c.666C>T" "r.(?)" "p.(His222=)" "" "0000863043" "00002053" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147Ter)" "" "0000878856" "00002053" "90" "625" "5" "625" "5" "c.625+5G>C" "r.spl?" "p.?" "5i" "0000881214" "00002053" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411Gln)" "" "0000881311" "00002053" "70" "1198" "0" "1198" "0" "c.1198G>C" "r.(?)" "p.(Ala400Pro)" "" "0000890668" "00002053" "50" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Val216Ala)" "" "0000913883" "00002053" "50" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Asn341Ser)" "" "0000949988" "00002053" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(=)" "" "0000966971" "00002053" "10" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Cys69=)" "" "0000980353" "00002053" "10" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Cys69=)" "" "0001014993" "00002053" "10" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(His222Tyr)" "" "0001026204" "00002053" "90" "1042" "0" "1042" "0" "c.1042del" "r.(?)" "p.(Asp348Thrfs*6)" "" "0001030010" "00002053" "70" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Asp)" "" "0001039321" "00002053" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Cys69=)" "" "0001039322" "00002053" "50" "841" "0" "841" "0" "c.841G>C" "r.(?)" "p.(Glu281Gln)" "" "0001046387" "00002053" "50" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Val228Ile)" "" "0001047032" "00002053" "90" "1412" "0" "1412" "0" "c.1412G>T" "r.(?)" "p.(Cys471Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000034722" "0000061841" "0000034723" "0000061842" "0000034724" "0000061843" "0000034725" "0000061844" "0000034726" "0000061845" "0000034727" "0000061846" "0000034728" "0000061847" "0000034729" "0000061848" "0000034730" "0000061849" "0000034731" "0000061850" "0000034732" "0000061851" "0000034733" "0000061852" "0000034734" "0000061853" "0000034735" "0000061854" "0000034736" "0000061855" "0000034737" "0000061856" "0000034738" "0000061857" "0000117809" "0000188823" "0000208486" "0000438412" "0000208539" "0000438417" "0000208540" "0000438418" "0000208541" "0000438419" "0000208542" "0000438420" "0000208543" "0000438421" "0000208544" "0000438422" "0000208545" "0000438423" "0000270976" "0000624805" "0000270977" "0000624806" "0000270978" "0000624807" "0000270979" "0000624808" "0000291912" "0000648601" "0000291913" "0000648602" "0000327647" "0000711430" "0000327648" "0000711431" "0000418941" "0000878856" "0000420855" "0000881214" "0000420952" "0000881311" "0000466158" "0001030010"