### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VWA1) # 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}}" "VWA1" "von Willebrand factor A domain containing 1" "1" "p36.33" "unknown" "NC_000001.10" "UD_132438175327" "" "https://www.LOVD.nl/VWA1" "" "1" "30910" "64856" "611901" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/VWA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-12 15:02:33" "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}}" "00022689" "VWA1" "transcript variant 1" "001" "NM_022834.4" "" "NP_073745.2" "" "" "" "-226" "4433" "1338" "1370903" "1378262" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VWA1" "05113" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00303430" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam1" "00303431" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam2" "00303432" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam3" "00303433" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected heterozygous carriermother" "M" "" "" "" "0" "" "" "" "Fam4" "00303434" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam5" "00303435" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam6" "00303436" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam7" "00303437" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam8" "00303438" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam9" "00303439" "" "" "" "2" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam10" "00303440" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "5-generation family, 2 affected (2M), unaffected parents" "M" "" "" "" "0" "" "" "" "Fam" "00303441" "" "" "" "2" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam" "00303442" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, affected male twins, unaffected parents" "M" "" "Netherlands" "" "0" "" "" "" "Fam" "00303443" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00303430" "05113" "00303431" "05113" "00303432" "05113" "00303433" "05113" "00303434" "05113" "00303435" "05113" "00303436" "05113" "00303437" "05113" "00303438" "05113" "00303439" "05113" "00303440" "05113" "00303441" "05113" "00303442" "05113" "00303443" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05113 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000230510" "05113" "00303430" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230511" "05113" "00303431" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230512" "05113" "00303432" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230513" "05113" "00303433" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230514" "05113" "00303434" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230515" "05113" "00303435" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230516" "05113" "00303436" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230517" "05113" "00303437" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230518" "05113" "00303438" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230519" "05113" "00303439" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230520" "05113" "00303440" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230521" "05113" "00303441" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230522" "05113" "00303442" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" "0000230523" "05113" "00303443" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304559" "00303430" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304560" "00303431" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304561" "00303432" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304562" "00303433" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304563" "00303434" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304564" "00303435" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304565" "00303436" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304566" "00303437" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304567" "00303438" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304568" "00303439" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304569" "00303440" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304570" "00303441" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304571" "00303442" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304572" "00303443" "1" "00006" "00006" "2020-06-12 15:09:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000304559" "VWA1" "0000304560" "VWA1" "0000304561" "VWA1" "0000304562" "VWA1" "0000304563" "VWA1" "0000304564" "VWA1" "0000304565" "VWA1" "0000304566" "VWA1" "0000304567" "VWA1" "0000304568" "VWA1" "0000304569" "VWA1" "0000304570" "VWA1" "0000304571" "VWA1" "0000304572" "VWA1" ## 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 = 36 "{{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}}" "0000320428" "0" "50" "1" "1374728" "1374728" "subst" "0" "01804" "VWA1_000001" "g.1374728G>A" "" "" "" "VWA1(NM_022834.4):c.899G>A (p.(Arg300His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1439348G>A" "" "VUS" "" "0000320429" "0" "50" "1" "1374961" "1374961" "subst" "0.0150917" "01804" "VWA1_000002" "g.1374961C>T" "" "" "" "VWA1(NM_022834.4):c.1132C>T (p.(Arg378Trp)), VWA1(NM_022834.5):c.1132C>T (p.R378W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1439581C>T" "" "VUS" "" "0000320430" "0" "50" "1" "1375141" "1375141" "subst" "0" "01804" "VWA1_000003" "g.1375141C>A" "" "" "" "VWA1(NM_022834.4):c.1312C>A (p.(Pro438Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1439761C>A" "" "VUS" "" "0000502919" "0" "50" "1" "1407281" "1407281" "subst" "0.000206961" "01943" "ATAD3B_000008" "g.1407281G>A" "" "" "" "ATAD3B(NM_031921.5):c.17G>A (p.G6D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1471901G>A" "" "VUS" "" "0000668028" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668029" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668030" "1" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668031" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668032" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668033" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668034" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668035" "1" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668036" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668037" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668038" "3" "90" "1" "1372696" "1372696" "del" "0" "00006" "VWA1_000007" "g.1372696del" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1437316del" "" "pathogenic (recessive)" "" "0000668039" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668040" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668041" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0000668042" "2" "90" "1" "1372453" "1372453" "subst" "0" "00006" "VWA1_000005" "g.1372453A>C^1372455T>R" "" "Pagnamenta ESHG2020 C20.1" "" "S74R" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000668043" "2" "90" "1" "1374928" "1374928" "subst" "0" "00006" "VWA1_000006" "g.1374928C>T" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.1439548C>T" "" "pathogenic (recessive)" "" "0000687847" "0" "30" "1" "1407283" "1407283" "subst" "0.000212774" "01943" "ATAD3B_000001" "g.1407283G>A" "" "" "" "ATAD3B(NM_031921.5):c.19G>A (p.V7I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882745" "0" "50" "1" "1375124" "1375130" "del" "0" "02329" "ATAD3C_000002" "g.1375124_1375130del" "" "" "" "VWA1(NM_022834.5):c.1295_1301delTGCCCCG (p.V432Afs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922936" "0" "10" "1" "1374961" "1374961" "subst" "0.0150917" "02330" "VWA1_000002" "g.1374961C>T" "" "" "" "VWA1(NM_022834.4):c.1132C>T (p.(Arg378Trp)), VWA1(NM_022834.5):c.1132C>T (p.R378W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000922937" "0" "10" "1" "1375185" "1375185" "subst" "0.11157" "02330" "ATAD3C_000003" "g.1375185G>C" "" "" "" "VWA1(NM_022834.5):c.*18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928001" "0" "30" "1" "1372485" "1372485" "subst" "2.50179E-5" "02330" "VWA1_000008" "g.1372485C>T" "" "" "" "VWA1(NM_022834.5):c.252C>T (p.T84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946955" "0" "10" "1" "1372773" "1372773" "subst" "0.00236965" "02330" "VWA1_000009" "g.1372773C>T" "" "" "" "VWA1(NM_022834.5):c.540C>T (p.A180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000946956" "0" "10" "1" "1374762" "1374762" "subst" "0.00122097" "02330" "ATAD3C_000005" "g.1374762G>A" "" "" "" "VWA1(NM_022834.5):c.933G>A (p.S311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000946957" "0" "30" "1" "1375171" "1375171" "subst" "0" "02330" "ATAD3C_000006" "g.1375171G>A" "" "" "" "VWA1(NM_022834.5):c.*4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960441" "0" "30" "1" "1371188" "1371188" "subst" "0" "02330" "VWA1_000010" "g.1371188C>T" "" "" "" "VWA1(NM_022834.5):c.60C>T (p.S20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960442" "0" "10" "1" "1371459" "1371459" "subst" "0" "02330" "VWA1_000011" "g.1371459A>G" "" "" "" "VWA1(NM_022834.5):c.73+258A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960445" "0" "10" "1" "1374834" "1374834" "subst" "0.313202" "02330" "ATAD3C_000007" "g.1374834A>G" "" "" "" "VWA1(NM_022834.5):c.1005A>G (p.P335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000990219" "0" "90" "1" "1372688" "1372688" "del" "0" "02326" "VWA1_000012" "g.1372688del" "" "" "" "VWA1(NM_022834.5):c.455delG (p.G152Afs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990220" "0" "10" "1" "1374909" "1374909" "subst" "0.0003582" "02330" "ATAD3C_000008" "g.1374909G>A" "" "" "" "VWA1(NM_022834.5):c.1080G>A (p.A360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031165" "0" "30" "1" "1390906" "1390906" "subst" "3.2668E-5" "01804" "ATAD3C_000009" "g.1390906C>T" "" "" "" "ATAD3C(NM_001039211.3):c.438+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031166" "0" "50" "1" "1403801" "1403801" "subst" "8.1596E-6" "01804" "ATAD3B_000041" "g.1403801A>C" "" "" "" "ATAD3C(NM_001039211.3):c.1127A>C (p.(Glu376Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045589" "0" "30" "1" "1372554" "1372554" "subst" "0.000755293" "02326" "VWA1_000013" "g.1372554C>T" "" "" "" "VWA1(NM_022834.5):c.321C>T (p.R107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 VWA1 ## Count = 36 "{{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}}" "0000320428" "00022689" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300His)" "" "0000320429" "00022689" "50" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Arg378Trp)" "" "0000320430" "00022689" "50" "1312" "0" "1312" "0" "c.1312C>A" "r.(?)" "p.(Pro438Thr)" "" "0000502919" "00022689" "50" "33452" "0" "33452" "0" "c.*32114G>A" "r.(=)" "p.(=)" "" "0000668028" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668029" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668030" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668031" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668032" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668033" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668034" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668035" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668036" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668037" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668038" "00022689" "90" "463" "0" "463" "0" "c.463del" "r.(?)" "p.(Met155Cysfs*51)" "" "0000668039" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668040" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668041" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0000668042" "00022689" "90" "220" "0" "220" "0" "c.220A>C^222T>R" "r.(?)" "p.(Ser74del)" "" "0000668043" "00022689" "90" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Gln367*)" "" "0000687847" "00022689" "30" "33454" "0" "33454" "0" "c.*32116G>A" "r.(=)" "p.(=)" "" "0000882745" "00022689" "50" "1295" "0" "1301" "0" "c.1295_1301del" "r.(?)" "p.(Val432Alafs*105)" "" "0000922936" "00022689" "10" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Arg378Trp)" "" "0000922937" "00022689" "10" "1356" "0" "1356" "0" "c.*18G>C" "r.(=)" "p.(=)" "" "0000928001" "00022689" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(=)" "" "0000946955" "00022689" "10" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(=)" "" "0000946956" "00022689" "10" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(=)" "" "0000946957" "00022689" "30" "1342" "0" "1342" "0" "c.*4G>A" "r.(=)" "p.(=)" "" "0000960441" "00022689" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(=)" "" "0000960442" "00022689" "10" "73" "258" "73" "258" "c.73+258A>G" "r.(=)" "p.(=)" "" "0000960445" "00022689" "10" "1005" "0" "1005" "0" "c.1005A>G" "r.(?)" "p.(=)" "" "0000990219" "00022689" "90" "455" "0" "455" "0" "c.455del" "r.(?)" "p.(Gly152Alafs*54)" "" "0000990220" "00022689" "10" "1080" "0" "1080" "0" "c.1080G>A" "r.(?)" "p.(=)" "" "0001031165" "00022689" "30" "17077" "0" "17077" "0" "c.*15739C>T" "r.(=)" "p.(=)" "" "0001031166" "00022689" "50" "29972" "0" "29972" "0" "c.*28634A>C" "r.(=)" "p.(=)" "" "0001045589" "00022689" "30" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000304559" "0000668028" "0000304560" "0000668029" "0000304561" "0000668030" "0000304561" "0000668042" "0000304562" "0000668031" "0000304563" "0000668032" "0000304564" "0000668033" "0000304565" "0000668034" "0000304566" "0000668035" "0000304566" "0000668043" "0000304567" "0000668036" "0000304568" "0000668037" "0000304569" "0000668038" "0000304570" "0000668039" "0000304571" "0000668040" "0000304572" "0000668041"