### 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" "00006" "2026-03-07 15:19:40" ## 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 = 4 "{{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" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "07240" "HMNR7" "neuronopathy, distal hereditary motor, autosomal recessive, type 7" "AR" "611901" "" "" "" "00006" "2026-03-06 17:39:17" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "VWA1" "05113" "VWA1" "07240" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00303431" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam2" "00303432" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam3" "00303433" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected heterozygous carriermother" "M" "" "? (unknown);United Kingdom (Great Britain)" "" "0" "" "" "white;Afro-Carribbean" "Fam4" "00303434" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam5" "00303435" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "white" "Fam6" "00303436" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam7" "00303437" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam8" "00303438" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam9" "00303439" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "England;Italy;Scotland" "" "0" "" "" "" "Fam10" "00303440" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "5-generation family, affected boy/paternal uncle, unaffected parents" "M" "" "Afghanistan" "" "0" "" "" "" "Fam13Pat14/15" "00303441" "" "" "" "2" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "" "" "0" "" "" "white" "Fam12Pat12/13" "00303442" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam14Pat16" "00303443" "" "" "" "1" "" "00006" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam15Pat17" "00473994" "" "" "" "1" "" "00006" "{PMID:Pagnamenta 2021:33559681}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany;Ireland;Italy;Netherlands;Scotland" "" "0" "" "" "" "Fam11" "00473995" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "3-generation family, 4 affected (2F, 2M), unaffected first cousin heterozygous carrier mother" "M" "yes" "Germany" "" "0" "" "" "Roma" "Fam1PatII2" "00473996" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "sister" "F" "yes" "Germany" "" "0" "" "" "Roma" "Fam1PatII4" "00473997" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "sister" "F" "yes" "Germany" "" "0" "" "" "Roma" "Fam1PatII5" "00473998" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "brother" "M" "yes" "Germany" "" "0" "" "" "Roma" "Fam1PatII6" "00473999" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "3-generation family, 1 affected, unaffected first cousin parents" "M" "no" "Germany" "" "0" "" "" "" "Fam2PatII1" "00474000" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "3-generation family, 4 affected (3F, 2M), unaffected first cousin heterozygous carrier parents" "F" "yes" "Germany" "" "0" "" "" "Arab" "Fam3PatII3" "00474001" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "brother" "M" "yes" "Germany" "" "0" "" "" "Arab" "Fam3PatII4" "00474002" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "niece" "F" "yes" "Germany" "" "0" "" "" "Arab" "Fam3PatII5" "00474003" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "cousin" "M" "yes" "Germany" "" "0" "" "" "Arab" "Fam3PatII7" "00474004" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "niece" "F" "yes" "Germany" "" "0" "" "" "Arab" "Fam3PatII9" "00474005" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "Fam4PatII1" "00474006" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "sister" "F" "no" "Germany" "" "0" "" "" "" "Fam4PatII2" "00474007" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "" "Fam5PatII1" "00474008" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "brother" "M" "no" "Germany" "" "0" "" "" "" "Fam5PatII2" "00474009" "" "" "" "1" "" "00006" "{PMID:Deschauer 2021: 33459760}" "3-generation family, 1 affected, unaffected parents" "M" "no" "Germany" "" "0" "" "" "" "Fam6PatII1" "00474010" "" "" "" "1" "" "00006" "{PMID:Wang 2020:33015062}" "5-generation family, 8 affected (3F, 5M), 1 asymptomatic carrier" "F;M" "no" "China" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{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" "00473994" "05113" "00473995" "05618" "00473996" "05618" "00473997" "05618" "00473998" "05618" "00473999" "05618" "00474000" "05618" "00474001" "05618" "00474002" "05618" "00474003" "05618" "00474004" "05618" "00474005" "05618" "00474006" "05618" "00474007" "05618" "00474008" "05618" "00474009" "05618" "00474010" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05113, 05618, 07240 ## Count = 31 "{{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}}" "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" "" "0000358789" "05113" "00473994" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "recessive hereditary motor neuropathy" "" "0000358790" "05618" "00473995" "00006" "Familial, autosomal recessive" "64y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358791" "05618" "00473996" "00006" "Familial, autosomal recessive" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358792" "05618" "00473997" "00006" "Familial, autosomal recessive" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358793" "05618" "00473998" "00006" "Familial, autosomal recessive" "46y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358794" "05618" "00473999" "00006" "Familial, autosomal recessive" "46y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358795" "05618" "00474000" "00006" "Familial, autosomal recessive" "11y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358796" "05618" "00474001" "00006" "Familial, autosomal recessive" "9y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358797" "05618" "00474002" "00006" "Familial, autosomal recessive" "34y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358798" "05618" "00474003" "00006" "Familial, autosomal recessive" "30y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358799" "05618" "00474004" "00006" "Familial, autosomal recessive" "25y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358800" "05618" "00474005" "00006" "Familial, autosomal recessive" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358801" "05618" "00474006" "00006" "Familial, autosomal recessive" "13y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358802" "05618" "00474007" "00006" "Familial, autosomal recessive" "45y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358803" "05618" "00474008" "00006" "Familial, autosomal recessive" "44y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358804" "05618" "00474009" "00006" "Familial, autosomal recessive" "44y" "see paper; ..." "" "" "" "" "" "" "" "" "HMNR7" "neuromuscular disorder" "" "0000358805" "00198" "00474010" "00006" "Familial, autosomal dominant" "" "see paper; ..., hemifacial microsomia; mandibular hypoplasia, moderate to severe conductive hearing loss; ear deformities (some memebrs)" "" "" "" "" "" "" "" "" "" "hemifacial microsomia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{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" "0000475664" "00473994" "1" "00006" "00006" "2026-03-07 13:59:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475665" "00473995" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000475666" "00473996" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475667" "00473997" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475668" "00473998" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475669" "00473999" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475670" "00474000" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475671" "00474001" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475672" "00474002" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475673" "00474003" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475674" "00474004" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475675" "00474005" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475676" "00474006" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475677" "00474007" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475678" "00474008" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000475679" "00474009" "1" "00006" "00006" "2026-03-07 15:03:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475680" "00474010" "1" "00006" "00006" "2026-03-07 15:17:47" "" "" "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 = 58 "{{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, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668029" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668030" "1" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668031" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668032" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668033" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668034" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668035" "1" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668036" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668037" "11" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668038" "3" "90" "1" "1372695" "1372695" "del" "0" "00006" "VWA1_000014" "g.1372695del" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "456delC" "ACMG PM2, PP3, PP1, PVS1" "Germline" "yes" "" "0" "" "" "g.1437316del" "" "pathogenic (recessive)" "ACMG" "0000668039" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668040" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668041" "11" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0000668042" "2" "50" "1" "1372455" "1372455" "subst" "3.30915E-5" "00006" "VWA1_000005" "g.1372455T>G" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "ACMG PM2, PP3, PM3" "Germline" "" "" "0" "" "" "g.1437075T>G" "" "VUS" "ACMG" "0000668043" "2" "90" "1" "1374928" "1374928" "subst" "0" "00006" "VWA1_000006" "g.1374928C>T" "" "Pagnamenta ESHG2020 C20.1, {PMID:Pagnamenta 2021:33559681}" "" "" "ACMG PM2, PP3, PM3, PVS1" "Germline" "" "" "0" "" "" "g.1439548C>T" "" "pathogenic (recessive)" "ACMG" "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" "" "0001070169" "21" "50" "1" "1374919" "1374919" "subst" "0" "00006" "VWA1_000015" "g.1374919T>A" "" "{PMID:Pagnamenta 2021:33559681}" "" "" "ACMG PM2, PP3, PM3" "Germline" "" "" "0" "" "" "g.1439539T>A" "" "VUS" "ACMG" "0001070170" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "{PMID:Pagnamenta 2021:33559681}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "ACMG" "0001070171" "21" "90" "1" "1374708" "1374708" "del" "0" "00006" "VWA1_000016" "g.1374708del" "" "{PMID:Pagnamenta 2021:33559681}" "" "879delG" "ACMG PM2, PP3, PP1, PVS1" "Germline" "" "" "0" "" "" "g.1439328del" "" "pathogenic (recessive)" "ACMG" "0001070172" "3" "90" "1" "1372485" "1372485" "del" "0" "00006" "VWA1_000021" "g.1372485del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1437105del" "" "pathogenic (recessive)" "" "0001070173" "3" "90" "1" "1372485" "1372485" "del" "0" "00006" "VWA1_000021" "g.1372485del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1437105del" "" "pathogenic (recessive)" "" "0001070174" "3" "90" "1" "1372485" "1372485" "del" "0" "00006" "VWA1_000021" "g.1372485del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1437105del" "" "pathogenic (recessive)" "" "0001070175" "3" "90" "1" "1372485" "1372485" "del" "0" "00006" "VWA1_000021" "g.1372485del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1437105del" "" "pathogenic (recessive)" "" "0001070176" "1" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0001070177" "3" "90" "1" "1371190" "1371199" "del" "0" "00006" "VWA1_000018" "g.1371190_1371199del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819del" "" "pathogenic (recessive)" "" "0001070178" "3" "90" "1" "1371190" "1371199" "del" "0" "00006" "VWA1_000018" "g.1371190_1371199del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819del" "" "pathogenic (recessive)" "" "0001070179" "3" "90" "1" "1371190" "1371199" "del" "0" "00006" "VWA1_000018" "g.1371190_1371199del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819del" "" "pathogenic (recessive)" "" "0001070180" "3" "90" "1" "1371190" "1371199" "del" "0" "00006" "VWA1_000018" "g.1371190_1371199del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819del" "" "pathogenic (recessive)" "" "0001070181" "3" "90" "1" "1371190" "1371199" "del" "0" "00006" "VWA1_000018" "g.1371190_1371199del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819del" "" "pathogenic (recessive)" "" "0001070182" "21" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0001070183" "21" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0001070184" "3" "90" "1" "1372419" "1372442" "del" "0" "00006" "VWA1_000020" "g.1372419_1372442del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1437039_1437062del" "" "pathogenic (recessive)" "" "0001070185" "3" "90" "1" "1372419" "1372442" "del" "0" "00006" "VWA1_000020" "g.1372419_1372442del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1437039_1437062del" "" "pathogenic (recessive)" "" "0001070186" "3" "90" "1" "1371190" "1371199" "dup" "0" "00006" "VWA1_000004" "g.1371190_1371199dup" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1435810_1435819dup" "" "pathogenic (recessive)" "" "0001070187" "2" "90" "1" "1372327" "1372327" "subst" "4.15445E-5" "00006" "VWA1_000019" "g.1372327C>T" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1436947C>T" "" "pathogenic (recessive)" "" "0001070188" "11" "90" "1" "1374708" "1374708" "del" "0" "00006" "VWA1_000016" "g.1374708del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1439328del" "" "pathogenic (recessive)" "" "0001070189" "11" "90" "1" "1374708" "1374708" "del" "0" "00006" "VWA1_000016" "g.1374708del" "" "{PMID:Deschauer 2021: 33459760}" "" "" "" "Germline" "" "" "0" "" "" "g.1439328del" "" "pathogenic (recessive)" "" "0001070190" "1" "90" "1" "1374734" "1374734" "subst" "9.40557E-5" "00006" "VWA1_000017" "g.1374734G>A" "" "{PMID:Wang 2020:33015062}" "" "G905A" "1 asymptomatic carrier" "Germline" "yes" "" "0" "" "" "g.1439354G>A" "" "VUS (!)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes VWA1 ## Count = 58 "{{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" "462" "0" "462" "0" "c.462del" "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" "50" "222" "0" "222" "0" "c.222T>G" "r.(?)" "p.(Ser74Arg)" "" "0000668043" "00022689" "90" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Gln367Ter)" "" "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.(=)" "" "0001070169" "00022689" "50" "1090" "0" "1090" "0" "c.1090T>A" "r.(?)" "p.(Tyr364Asn)" "" "0001070170" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25Argfs*74)" "" "0001070171" "00022689" "90" "879" "0" "879" "0" "c.879del" "r.(?)" "p.(Arg293Serfs*58)" "" "0001070172" "00022689" "90" "252" "0" "252" "0" "c.252del" "r.0" "p.0" "" "0001070173" "00022689" "90" "252" "0" "252" "0" "c.252del" "r.(?)" "p.(Glu85SerfsTer58)" "" "0001070174" "00022689" "90" "252" "0" "252" "0" "c.252del" "r.(?)" "p.(Glu85SerfsTer58)" "" "0001070175" "00022689" "90" "252" "0" "252" "0" "c.252del" "r.(?)" "p.(Glu85SerfsTer58)" "" "0001070176" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25ArgfsTer74)" "" "0001070177" "00022689" "90" "62" "0" "71" "0" "c.62_71del" "r.(?)" "p.(Gly21AlafsTer12)" "" "0001070178" "00022689" "90" "62" "0" "71" "0" "c.62_71del" "r.(?)" "p.(Gly21AlafsTer12)" "" "0001070179" "00022689" "90" "62" "0" "71" "0" "c.62_71del" "r.(?)" "p.(Gly21AlafsTer12)" "" "0001070180" "00022689" "90" "62" "0" "71" "0" "c.62_71del" "r.(?)" "p.(Gly21AlafsTer12)" "" "0001070181" "00022689" "90" "62" "0" "71" "0" "c.62_71del" "r.(?)" "p.(Gly21AlafsTer12)" "" "0001070182" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25ArgfsTer74)" "" "0001070183" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25ArgfsTer74)" "" "0001070184" "00022689" "90" "186" "0" "209" "0" "c.186_209del" "r.189_209del" "p.Pro63_Ala70del" "" "0001070185" "00022689" "90" "186" "0" "209" "0" "c.186_209del" "r.(?)" "p.(Pro63_Ala70del)" "" "0001070186" "00022689" "90" "62" "0" "71" "0" "c.62_71dup" "r.(?)" "p.(Gly25ArgfsTer74)" "" "0001070187" "00022689" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Ter)" "" "0001070188" "00022689" "90" "879" "0" "879" "0" "c.879del" "r.(?)" "p.(Arg293SerfsTer58)" "" "0001070189" "00022689" "90" "879" "0" "879" "0" "c.879del" "r.(?)" "p.(Arg293SerfsTer58)" "" "0001070190" "00022689" "90" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Arg302Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{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" "0000304568" "0001070169" "0000304569" "0000668038" "0000304570" "0000668039" "0000304571" "0000668040" "0000304572" "0000668041" "0000304572" "0001070171" "0000475664" "0001070170" "0000475665" "0001070172" "0000475666" "0001070173" "0000475667" "0001070174" "0000475668" "0001070175" "0000475669" "0001070176" "0000475669" "0001070187" "0000475670" "0001070177" "0000475671" "0001070178" "0000475672" "0001070179" "0000475673" "0001070180" "0000475674" "0001070181" "0000475675" "0001070182" "0000475675" "0001070188" "0000475676" "0001070183" "0000475676" "0001070189" "0000475677" "0001070184" "0000475678" "0001070185" "0000475679" "0001070186" "0000475680" "0001070190"