### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADAMTS13) # 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}}" "ADAMTS13" "ADAM metallopeptidase with thrombospondin type 1 motif, 13" "9" "q34" "unknown" "NG_011934.2" "UD_132084475795" "" "https://www.LOVD.nl/ADAMTS13" "" "1" "1366" "11093" "604134" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "" "-1" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2018-02-19 20:20:38" "00000" "2022-05-09 15:51:19" ## 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}}" "00000052" "ADAMTS13" "ADAM metallopeptidase with thrombospondin type 1 motif, 13, transcript variant 1" "002" "NM_139025.3" "" "NP_620594.1" "" "" "" "-444" "4490" "4284" "136287120" "136324508" "00002" "2012-05-11 13:11:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01644" "ATS2" "Alport syndrome, autosomal dominant (ATS2)" "AR" "203780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02094" "TTP" "thrombocytopenic purpura, thrombotic, congenital (TTP, Upshaw-Schulman syndrome)" "AR" "274150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ADAMTS13" "02094" ## Individuals ## Do not remove or alter this header ## ## Count = 72 "{{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}}" "00000081" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000100" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00153708" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153740" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00153756" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "Asian (Arab)" "" "00153758" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00153783" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153791" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00153802" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153859" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153888" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "Asian (Arab)" "" "00153906" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00153907" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153927" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00153960" "" "" "" "1" "" "00687" "" "" "" "" "Germany" "" "0" "" "" "Asian (Indian)" "" "00204507" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204508" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204509" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204510" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204511" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204512" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204513" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204514" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204515" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204516" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204517" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204518" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204519" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204520" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204521" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204522" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204523" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204524" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204525" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204526" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204527" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204528" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204529" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204530" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204531" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204532" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204533" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204534" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204535" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204536" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204537" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204538" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204539" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204540" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204541" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204542" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204543" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204544" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204545" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204546" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204547" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204548" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204549" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204550" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204551" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204552" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204553" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204554" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204555" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204556" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00204557" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00265339" "" "" "" "2" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Fam6PatIV1" "00294789" "" "" "" "209" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294790" "" "" "" "101" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305234" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305235" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308728" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 69 "{{individualid}}" "{{diseaseid}}" "00153708" "01644" "00153740" "01644" "00153756" "01644" "00153758" "01644" "00153783" "01644" "00153791" "01644" "00153802" "01644" "00153859" "01644" "00153888" "01644" "00153906" "01644" "00153907" "01644" "00153927" "01644" "00153960" "01644" "00204507" "02094" "00204508" "02094" "00204509" "02094" "00204510" "02094" "00204511" "02094" "00204512" "02094" "00204513" "02094" "00204514" "02094" "00204515" "02094" "00204516" "02094" "00204517" "02094" "00204518" "02094" "00204519" "02094" "00204520" "02094" "00204521" "02094" "00204522" "02094" "00204523" "02094" "00204524" "02094" "00204525" "02094" "00204526" "02094" "00204527" "02094" "00204528" "02094" "00204529" "02094" "00204530" "02094" "00204531" "02094" "00204532" "02094" "00204533" "02094" "00204534" "02094" "00204535" "02094" "00204536" "02094" "00204537" "02094" "00204538" "02094" "00204539" "02094" "00204540" "02094" "00204541" "02094" "00204542" "02094" "00204543" "02094" "00204544" "02094" "00204545" "02094" "00204546" "02094" "00204547" "02094" "00204548" "02094" "00204549" "02094" "00204550" "02094" "00204551" "02094" "00204552" "02094" "00204553" "02094" "00204554" "02094" "00204555" "02094" "00204557" "02094" "00265339" "00139" "00294789" "00198" "00294790" "00198" "00305234" "00198" "00305235" "00198" "00308728" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01644, 02094 ## Count = 14 "{{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}}" "0000126385" "01644" "00153708" "00687" "Unknown" "49y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126417" "01644" "00153740" "00687" "Unknown" "42y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126433" "01644" "00153756" "00687" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126435" "01644" "00153758" "00687" "Unknown" "55y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126460" "01644" "00153783" "00687" "Unknown" "54y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126468" "01644" "00153791" "00687" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126479" "01644" "00153802" "00687" "Unknown" "54y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126536" "01644" "00153859" "00687" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126565" "01644" "00153888" "00687" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126583" "01644" "00153906" "00687" "Unknown" "24y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126584" "01644" "00153907" "00687" "Unknown" "44y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126604" "01644" "00153927" "00687" "Unknown" "24y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126637" "01644" "00153960" "00687" "Unknown" "40y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000203136" "00139" "00265339" "03427" "Familial, autosomal recessive" "11y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; no self-injury/hand-biting; bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 72 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000081" "00000081" "1" "00004" "" "2012-05-11 13:19:05" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000100" "00000100" "1" "00004" "" "2012-05-11 13:19:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000154569" "00153708" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154601" "00153740" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154617" "00153756" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154619" "00153758" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154644" "00153783" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154652" "00153791" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154663" "00153802" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154720" "00153859" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154749" "00153888" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154767" "00153906" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154768" "00153907" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154788" "00153927" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154821" "00153960" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000205536" "00204507" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205537" "00204508" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205538" "00204509" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205539" "00204510" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205540" "00204511" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205541" "00204512" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205542" "00204513" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205543" "00204514" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205544" "00204515" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205545" "00204516" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205546" "00204517" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205547" "00204518" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205548" "00204519" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205549" "00204520" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205550" "00204521" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205551" "00204522" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205552" "00204523" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205553" "00204524" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205554" "00204525" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205555" "00204526" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205556" "00204527" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205557" "00204528" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205558" "00204529" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205559" "00204530" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205560" "00204531" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205561" "00204532" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205562" "00204533" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205563" "00204534" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205564" "00204535" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205565" "00204536" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205566" "00204537" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205567" "00204538" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205568" "00204539" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205569" "00204540" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205570" "00204541" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205571" "00204542" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205572" "00204543" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205573" "00204544" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205574" "00204545" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205575" "00204546" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205576" "00204547" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205577" "00204548" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205578" "00204549" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205579" "00204550" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205580" "00204551" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205581" "00204552" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205582" "00204553" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205583" "00204554" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205584" "00204555" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205585" "00204556" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000205586" "00204557" "1" "00233" "00233" "2012-05-21 09:43:12" "" "" "SEQ" "DNA" "" "" "0000266458" "00265339" "1" "03427" "03427" "2019-09-20 21:48:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000295957" "00294789" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295958" "00294790" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306363" "00305234" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306364" "00305235" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309873" "00308728" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 87 "{{screeningid}}" "{{geneid}}" "0000000081" "ADAMTS13" "0000000081" "ATP7B" "0000000081" "CDH23" "0000000081" "ETFB" "0000000081" "FKTN" "0000000081" "GLB1" "0000000081" "HEXB" "0000000081" "NPHS1" "0000000081" "SERPINA1" "0000000081" "SMPD1" "0000000100" "ADAMTS13" "0000000100" "ATP7B" "0000000100" "CFTR" "0000000100" "ETFB" "0000000100" "HADHA" "0000000100" "HESX1" "0000000100" "HGSNAT" "0000000100" "LAMA2" "0000000100" "NHLRC1" "0000000100" "NPHS1" "0000000100" "PKHD1" "0000000100" "SERPINA1" "0000154569" "COL4A3" "0000154601" "COL4A3" "0000154617" "COL4A3" "0000154619" "COL4A3" "0000154644" "COL4A3" "0000154652" "COL4A3" "0000154663" "COL4A3" "0000154720" "COL4A4" "0000154749" "COL4A4" "0000154767" "COL4A4" "0000154768" "COL4A4" "0000154788" "COL4A4" "0000154821" "COL4A4" "0000205536" "ADAMTS13" "0000205537" "ADAMTS13" "0000205538" "ADAMTS13" "0000205539" "ADAMTS13" "0000205540" "ADAMTS13" "0000205541" "ADAMTS13" "0000205542" "ADAMTS13" "0000205543" "ADAMTS13" "0000205544" "ADAMTS13" "0000205545" "ADAMTS13" "0000205546" "ADAMTS13" "0000205547" "ADAMTS13" "0000205548" "ADAMTS13" "0000205549" "ADAMTS13" "0000205550" "ADAMTS13" "0000205551" "ADAMTS13" "0000205552" "ADAMTS13" "0000205553" "ADAMTS13" "0000205554" "ADAMTS13" "0000205555" "ADAMTS13" "0000205556" "ADAMTS13" "0000205557" "ADAMTS13" "0000205558" "ADAMTS13" "0000205559" "ADAMTS13" "0000205560" "ADAMTS13" "0000205561" "ADAMTS13" "0000205562" "ADAMTS13" "0000205563" "ADAMTS13" "0000205564" "ADAMTS13" "0000205565" "ADAMTS13" "0000205566" "ADAMTS13" "0000205567" "ADAMTS13" "0000205568" "ADAMTS13" "0000205569" "ADAMTS13" "0000205570" "ADAMTS13" "0000205571" "ADAMTS13" "0000205572" "ADAMTS13" "0000205573" "ADAMTS13" "0000205574" "ADAMTS13" "0000205575" "ADAMTS13" "0000205576" "ADAMTS13" "0000205577" "ADAMTS13" "0000205578" "ADAMTS13" "0000205579" "ADAMTS13" "0000205580" "ADAMTS13" "0000205581" "ADAMTS13" "0000205582" "ADAMTS13" "0000205583" "ADAMTS13" "0000205584" "ADAMTS13" "0000205585" "ADAMTS13" "0000205586" "ADAMTS13" "0000309873" "ADAMTS13" ## 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 = 119 "{{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}}" "0000001266" "0" "50" "9" "136319562" "136319562" "subst" "0.0000325706" "00002" "ADAMTS13_000035" "g.136319562T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.133454440T>G" "" "VUS" "" "0000001267" "0" "50" "9" "136302010" "136302010" "subst" "0.00227946" "00002" "ADAMTS13_000045" "g.136302010C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.133436890C>T" "" "VUS" "" "0000248615" "0" "10" "9" "136304497" "136304497" "subst" "0.475411" "02325" "ADAMTS13_000053" "g.136304497A>G" "" "" "" "ADAMTS13(NM_139025.4):c.1716A>G (p.T572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133439376A>G" "" "benign" "" "0000249129" "0" "10" "9" "136295290" "136295290" "subst" "0" "02325" "ADAMTS13_000050" "g.136295290A>C" "" "" "" "ADAMTS13(NM_139025.4):c.987+69A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133430170A>C" "" "benign" "" "0000258926" "0" "10" "9" "136305530" "136305530" "subst" "0.0607848" "02325" "ADAMTS13_000054" "g.136305530C>G" "" "" "" "ADAMTS13(NM_139025.4):c.1852C>G (p.P618A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133440409C>G" "" "benign" "" "0000258927" "0" "10" "9" "136308542" "136308542" "subst" "0.467562" "02325" "ADAMTS13_000056" "g.136308542C>T" "" "" "" "ADAMTS13(NM_139025.4):c.2280C>T (p.G760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133443421C>T" "" "benign" "" "0000258928" "0" "10" "9" "136291063" "136291063" "subst" "0.550539" "02325" "ADAMTS13_000047" "g.136291063C>T" "" "" "" "ADAMTS13(NM_139025.4):c.420C>T (p.A140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133425943C>T" "" "benign" "" "0000260601" "0" "10" "9" "136301982" "136301982" "subst" "0.380484" "02326" "ADAMTS13_000052" "g.136301982C>G" "" "" "" "ADAMTS13(NM_139025.4):c.1342C>G (p.Q448E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133436862C>G" "" "benign" "" "0000260602" "0" "10" "9" "136305552" "136305552" "subst" "0.00513469" "02326" "ADAMTS13_000055" "g.136305552G>A" "" "" "" "ADAMTS13(NM_139025.4):c.1874G>A (p.R625H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133440431G>A" "" "benign" "" "0000260603" "0" "10" "9" "136313924" "136313924" "subst" "0" "02326" "ADAMTS13_000057" "g.136313924G>A" "" "" "" "ADAMTS13(NM_139025.4):c.2861+75G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133448803G>A" "" "benign" "" "0000260604" "0" "10" "9" "136319496" "136319496" "subst" "0.032398" "02326" "ADAMTS13_000059" "g.136319496G>A" "" "" "" "ADAMTS13(NM_139025.4):c.3045-41G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133454374G>A" "" "benign" "" "0000260605" "0" "10" "9" "136319489" "136319489" "subst" "0.0323987" "02326" "ADAMTS13_000058" "g.136319489T>C" "" "" "" "ADAMTS13(NM_139025.4):c.3045-48T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133454367T>C" "" "benign" "" "0000260606" "0" "10" "9" "136294889" "136294889" "subst" "0" "02326" "ADAMTS13_000049" "g.136294889T>C" "" "" "" "ADAMTS13(NM_139025.4):c.825-170T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133429769T>C" "" "benign" "" "0000260608" "0" "10" "9" "136297633" "136297633" "subst" "0" "02326" "ADAMTS13_000051" "g.136297633G>A" "" "" "" "ADAMTS13(NM_139025.4):c.988-76G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133432512G>A" "" "benign" "" "0000341575" "0" "30" "9" "136307825" "136307825" "subst" "0.00987105" "02327" "ADAMTS13_000060" "g.136307825C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133442704C>T" "" "likely benign" "" "0000354818" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354827" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354834" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354835" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354844" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354848" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354851" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354863" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354870" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354878" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354879" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354886" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000354893" "0" "00" "9" "136287582" "136287582" "subst" "0" "00687" "ADAMTS13_000046" "g.136287582C>K" "" "" "" "rs34024143" "" "Germline" "" "" "0" "" "" "g.133422462C>K" "" "VUS" "" "0000434922" "0" "95" "9" "136289505" "136289505" "subst" "0" "00233" "ADAMTS13_000022" "g.136289505C>G" "" "{PMID:Veyradier et al (2004):15009458}" "" "" "submitted through SIB; {EXP:067770}" "Unknown" "" "" "0" "" "" "g.133424385C>G" "" "pathogenic" "" "0000434923" "0" "95" "9" "136289530" "136289530" "subst" "0" "00233" "ADAMTS13_000027" "g.136289530G>A" "" "{PMID:Peyvandi et al (2006):16453338}" "" "" "submitted through SIB; {EXP:027110}; The mutation results in reduced protein secretion and proteolytic activity" "Unknown" "" "" "0" "" "" "g.133424410G>A" "" "pathogenic" "" "0000434924" "0" "95" "9" "136289554" "136289554" "subst" "0" "00233" "ADAMTS13_000029" "g.136289554C>G" "" "{PMID:Levy et al (2001):11586351}" "" "" "submitted through SIB; {EXP:027111}" "Unknown" "" "" "0" "" "" "g.133424434C>G" "" "pathogenic" "" "0000434925" "0" "95" "9" "136289572" "136289572" "subst" "0.00000814876" "00233" "ADAMTS13_000030" "g.136289572C>T" "" "{PMID:Levy et al (2001):11586351}" "" "" "submitted through SIB; {EXP:027112}" "Unknown" "" "" "0" "" "" "g.133424452C>T" "" "pathogenic" "" "0000434926" "0" "95" "9" "136290674" "136290674" "subst" "0" "00233" "ADAMTS13_000015" "g.136290674C>T" "" "{PMID:Meyer et al (2008):18443791}" "" "" "submitted through SIB; {EXP:067771}" "Unknown" "" "" "0" "" "" "g.133425554C>T" "" "pathogenic" "" "0000434927" "0" "95" "9" "136291176" "136291176" "subst" "0" "00233" "ADAMTS13_000013" "g.136291176T>C" "" "{PMID:Fujimura et al (2009):19055667}" "" "" "submitted through SIB; {EXP:067772}" "Unknown" "" "" "0" "" "" "g.133426056T>C" "" "pathogenic" "" "0000434928" "0" "95" "9" "136291356" "136291356" "subst" "0.00000813941" "00233" "ADAMTS13_000011" "g.136291356C>T" "" "{PMID:Fujimura et al (2009):19055667}" "" "" "submitted through SIB; {EXP:027113}; The mutation results in reduced protein secretion and proteolytic activity" "Unknown" "" "" "0" "" "" "g.133426236C>T" "" "pathogenic" "" "0000434929" "0" "95" "9" "136291356" "136291356" "subst" "0.00000813941" "00233" "ADAMTS13_000011" "g.136291356C>T" "" "{PMID:Matsumoto et al (2004):14563640}" "" "" "submitted through SIB; {EXP:027113}; The mutation results in reduced protein secretion and proteolytic activity" "Unknown" "" "" "0" "" "" "g.133426236C>T" "" "pathogenic" "" "0000434930" "0" "95" "9" "136291366" "136291366" "subst" "0.0000122165" "00233" "ADAMTS13_000021" "g.136291366C>T" "" "{PMID:Schneppenheim et al (2006):16807643}" "" "" "submitted through SIB; {EXP:027114}; Corresponds to rs121908470 in dbSNP" "Unknown" "" "" "0" "" "" "g.133426246C>T" "" "pathogenic" "" "0000434931" "0" "95" "9" "136291366" "136291366" "subst" "0.0000122165" "00233" "ADAMTS13_000021" "g.136291366C>T" "" "{PMID:Levy et al (2001):11586351}" "" "" "submitted through SIB; {EXP:027114}; Corresponds to rs121908470 in dbSNP" "Unknown" "" "" "0" "" "" "g.133426246C>T" "" "pathogenic" "" "0000434932" "0" "95" "9" "136291386" "136291386" "subst" "0" "00233" "ADAMTS13_000023" "g.136291386T>C" "" "{PMID:Veyradier et al (2004):15009458}" "" "" "submitted through SIB; {EXP:067773}" "Unknown" "" "" "0" "" "" "g.133426266T>C" "" "pathogenic" "" "0000434933" "0" "95" "9" "136293762" "136293762" "subst" "0" "00233" "ADAMTS13_000016" "g.136293762T>A" "" "{PMID:Schneppenheim et al (2003):12393505}" "" "" "submitted through SIB; {EXP:067774}" "Unknown" "" "" "0" "" "" "g.133428642T>A" "" "pathogenic" "" "0000434934" "0" "95" "9" "136293769" "136293769" "subst" "0" "00233" "ADAMTS13_000037" "g.136293769C>A" "" "{PMID:Shibagaki et al (2006):16449289}" "" "" "submitted through SIB; {EXP:027115}" "Unknown" "" "" "0" "" "" "g.133428649C>A" "" "pathogenic" "" "0000434935" "0" "95" "9" "136293770" "136293770" "subst" "0" "00233" "ADAMTS13_000004" "g.136293770G>C" "" "{PMID:Assink et al (2003):12753286}" "" "" "submitted through SIB; {EXP:067775}" "Unknown" "" "" "0" "" "" "g.133428650G>C" "" "pathogenic" "" "0000434936" "0" "95" "9" "136293816" "136293816" "subst" "0" "00233" "ADAMTS13_000038" "g.136293816C>T" "" "{PMID:Uchida et al (2004):15126318}" "" "" "submitted through SIB; {EXP:027116}; The mutation results in strong reduction of proteolytic activity" "Unknown" "" "" "0" "" "" "g.133428696C>T" "" "pathogenic" "" "0000434937" "0" "95" "9" "136293855" "136293855" "subst" "0" "00233" "ADAMTS13_000017" "g.136293855C>G" "" "{PMID:Schneppenheim et al (2003):12393505}" "" "" "submitted through SIB; {EXP:067776}" "Unknown" "" "" "0" "" "" "g.133428735C>G" "" "pathogenic" "" "0000434938" "0" "95" "9" "136293870" "136293870" "subst" "0" "00233" "ADAMTS13_000039" "g.136293870G>C" "" "{PMID:Kokame et al (2002):12181489}" "" "" "submitted through SIB; {EXP:027117}; The mutation results in lack of protein secretion and loss of proteolytic activity" "Unknown" "" "" "0" "" "" "g.133428750G>C" "" "pathogenic" "" "0000434939" "0" "95" "9" "136295145" "136295145" "subst" "0.0000047164" "00233" "ADAMTS13_000009" "g.136295145A>G" "" "{PMID:Fujimura et al (2009):19055667}" "" "" "submitted through SIB; {EXP:067777}" "Unknown" "" "" "0" "" "" "g.133430025A>G" "" "pathogenic" "" "0000434940" "0" "95" "9" "136295166" "136295166" "subst" "0" "00233" "ADAMTS13_000003" "g.136295166G>A" "" "{PMID:Assink et al (2003):12753286}" "" "" "submitted through SIB; {EXP:067778}" "Unknown" "" "" "0" "" "" "g.133430046G>A" "" "pathogenic" "" "0000434941" "0" "95" "9" "136297760" "136297760" "subst" "0" "00233" "ADAMTS13_000018" "g.136297760T>A" "" "{PMID:Schneppenheim et al (2006):16807643}" "" "" "submitted through SIB; {EXP:067780}" "Unknown" "" "" "0" "" "" "g.133432639T>A" "" "pathogenic" "" "0000434942" "0" "95" "9" "136297766" "136297766" "subst" "0" "00233" "ADAMTS13_000012" "g.136297766C>T" "" "{PMID:Fujimura et al (2009):19055667}" "" "" "submitted through SIB; {EXP:067781}" "Unknown" "" "" "0" "" "" "g.133432645C>T" "" "pathogenic" "" "0000434943" "0" "95" "9" "136297779" "136297779" "subst" "0" "00233" "ADAMTS13_000005" "g.136297779C>T" "" "{PMID:Assink et al (2003):12753286}" "" "" "submitted through SIB; {EXP:067782}" "Unknown" "" "" "0" "" "" "g.133432658C>T" "" "pathogenic" "" "0000434944" "0" "95" "9" "136297779" "136297779" "subst" "0" "00233" "ADAMTS13_000005" "g.136297779C>T" "" "{PMID:Schneppenheim et al (2003):12393505}" "" "" "submitted through SIB; {EXP:067782}" "Unknown" "" "" "0" "" "" "g.133432658C>T" "" "pathogenic" "" "0000434945" "0" "95" "9" "136298575" "136298575" "subst" "0.00000814094" "00233" "ADAMTS13_000041" "g.136298575G>C" "" "{PMID:Licht et al (2004):15327386}" "" "" "submitted through SIB; {EXP:027118}" "Unknown" "" "" "0" "" "" "g.133433455G>C" "" "pathogenic" "" "0000434946" "0" "95" "9" "136298598" "136298598" "subst" "0" "00233" "ADAMTS13_000031" "g.136298598G>A" "" "{PMID:Levy et al (2001):11586351}" "" "" "submitted through SIB; {EXP:027119}" "Unknown" "" "" "0" "" "" "g.133433478G>A" "" "pathogenic" "" "0000434947" "0" "95" "9" "136302953" "136302953" "subst" "0.0000203211" "00233" "ADAMTS13_000020" "g.136302953G>A" "" "{PMID:Schneppenheim et al (2006):16807643}" "" "" "submitted through SIB; {EXP:067783}" "Unknown" "" "" "0" "" "" "g.133437833G>A" "" "pathogenic" "" "0000434948" "0" "95" "9" "136302953" "136302953" "subst" "0.0000203211" "00233" "ADAMTS13_000020" "g.136302953G>A" "" "{PMID:Veyradier et al (2004):15009458}" "" "" "submitted through SIB; {EXP:067783}" "Unknown" "" "" "0" "" "" "g.133437833G>A" "" "pathogenic" "" "0000434949" "0" "95" "9" "136302956" "136302956" "subst" "0.00000406415" "00233" "ADAMTS13_000040" "g.136302956G>A" "" "{PMID:Kokame et al (2002):12181489}" "" "" "submitted through SIB; {EXP:027122}; The mutation results in lack of protein secretion and loss of proteolytic activity" "Unknown" "" "" "0" "" "" "g.133437836G>A" "" "pathogenic" "" "0000434950" "0" "95" "9" "136303007" "136303007" "subst" "0" "00233" "ADAMTS13_000010" "g.136303007G>A" "" "{PMID:Fujimura et al (2009):19055667}" "" "" "submitted through SIB; {EXP:067784}" "Unknown" "" "" "0" "" "" "g.133437887G>A" "" "pathogenic" "" "0000434951" "0" "95" "9" "136303015" "136303015" "subst" "0.00000406779" "00233" "ADAMTS13_000032" "g.136303015A>G" "" "{PMID:Levy et al (2001):11586351}" "" "" "submitted through SIB; {EXP:027123}" "Unknown" "" "" "0" "" "" "g.133437895A>G" "" "pathogenic" "" "0000434952" "0" "95" "9" "136305465" "136305465" "subst" "0.0000121936" "00233" "ADAMTS13_000024" "g.136305465C>T" "" "{PMID:Veyradier et al (2004):15009458}" "" "" "submitted through SIB; {EXP:067785}" "Unknown" "" "" "0" "" "" "g.133440344C>T" "" "pathogenic" "" "0000434953" "0" "95" "9" "136305494" "136305494" "subst" "0.00000406296" "00233" "ADAMTS13_000014" "g.136305494G>C" "" "{PMID:Fujimura et al (2009):19055667}" "" "" "submitted through SIB; {EXP:067786}" "Unknown" "" "" "0" "" "" "g.133440373G>C" "" "pathogenic" "" "0000434954" "0" "95" "9" "136307524" "136307524" "subst" "0" "00233" "ADAMTS13_000001" "g.136307524A>G" "" "{PMID:Lee et al (2011):22075512}" "" "" "submitted through SIB; {EXP:067787}" "Unknown" "" "" "0" "" "" "g.133442403A>G" "" "pathogenic" "" "0000434955" "0" "95" "9" "136307563" "136307563" "subst" "0.00000406223" "00233" "ADAMTS13_000019" "g.136307563C>T" "" "{PMID:Schneppenheim et al (2006):16807643}" "" "" "submitted through SIB; {EXP:067788}" "Unknown" "" "" "0" "" "" "g.133442442C>T" "" "pathogenic" "" "0000434956" "0" "95" "9" "136307568" "136307568" "subst" "0.00000406213" "00233" "ADAMTS13_000042" "g.136307568A>T" "" "{PMID:Matsumoto et al (2004):14563640}" "" "" "submitted through SIB; {EXP:027126}; The mutation results in lack of protein secretion" "Unknown" "" "" "0" "" "" "g.133442447A>T" "" "pathogenic" "" "0000434957" "0" "95" "9" "136307625" "136307625" "subst" "0.00000406398" "00233" "ADAMTS13_000033" "g.136307625C>T" "" "{PMID:Levy et al (2001):11586351}" "" "" "submitted through SIB; {EXP:027127}" "Unknown" "" "" "0" "" "" "g.133442504C>T" "" "pathogenic" "" "0000434958" "0" "95" "9" "136308534" "136308534" "subst" "0" "00233" "ADAMTS13_000025" "g.136308534T>C" "" "{PMID:Veyradier et al (2004):15009458}" "" "" "submitted through SIB; {EXP:067789}" "Unknown" "" "" "0" "" "" "g.133443413T>C" "" "pathogenic" "" "0000434959" "0" "95" "9" "136310932" "136310932" "subst" "0.0000043387" "00233" "ADAMTS13_000043" "g.136310932G>A" "" "{PMID:Matsumoto et al (2004):14563640}" "" "" "submitted through SIB; {EXP:027131}; The mutation results in lack of protein secretion" "Unknown" "" "" "0" "" "" "g.133445811G>A" "" "pathogenic" "" "0000434960" "0" "95" "9" "136310932" "136310932" "subst" "0" "00233" "ADAMTS13_000026" "g.136310932G>C" "" "{PMID:Veyradier et al (2004):15009458}" "" "" "submitted through SIB; {EXP:067790}" "Unknown" "" "" "0" "" "" "g.133445811G>C" "" "pathogenic" "" "0000434961" "0" "95" "9" "136313839" "136313839" "subst" "0" "00233" "ADAMTS13_000034" "g.136313839T>G" "" "{PMID:Levy et al (2001):11586351}" "" "" "submitted through SIB; {EXP:027132}" "Unknown" "" "" "0" "" "" "g.133448718T>G" "" "pathogenic" "" "0000434962" "0" "95" "9" "136319562" "136319562" "subst" "0.0000325706" "00233" "ADAMTS13_000035" "g.136319562T>G" "" "{PMID:Levy et al (2001):11586351}" "" "" "submitted through SIB; {EXP:027133}" "Unknown" "" "" "0" "" "" "g.133454440T>G" "" "pathogenic" "" "0000434963" "0" "95" "9" "136319670" "136319670" "subst" "0.000830792" "00233" "ADAMTS13_000008" "g.136319670C>T" "" "{PMID:Donadelli et al (2006):17003922}" "" "" "submitted through SIB; {EXP:067792}; The mutation results in reduced protein secretion and proteolytic activity. Corresponds to rs142572218 in dbSNP" "Unknown" "" "" "0" "" "" "g.133454548C>T" "" "pathogenic" "" "0000434964" "0" "95" "9" "136319670" "136319670" "subst" "0.000830792" "00233" "ADAMTS13_000008" "g.136319670C>T" "" "{PMID:Schneppenheim et al (2006):16807643}" "" "" "submitted through SIB; {EXP:067792}; The mutation results in reduced protein secretion and proteolytic activity. Corresponds to rs142572218 in dbSNP" "Unknown" "" "" "0" "" "" "g.133454548C>T" "" "pathogenic" "" "0000434965" "0" "95" "9" "136319670" "136319670" "subst" "0.000830792" "00233" "ADAMTS13_000008" "g.136319670C>T" "" "{PMID:Tao et al (2006):16796708}" "" "" "submitted through SIB; {EXP:067792}; The mutation results in reduced protein secretion and proteolytic activity. Corresponds to rs142572218 in dbSNP" "Unknown" "" "" "0" "" "" "g.133454548C>T" "" "pathogenic" "" "0000434966" "0" "95" "9" "136320524" "136320524" "subst" "0" "00233" "ADAMTS13_000007" "g.136320524C>T" "" "{PMID:Donadelli et al (2006):17003922}" "" "" "submitted through SIB; {EXP:027136}; The mutation results in reduced protein secretion and proteolytic activity" "Unknown" "" "" "0" "" "" "g.133455402C>T" "" "pathogenic" "" "0000434967" "0" "95" "9" "136320524" "136320524" "subst" "0" "00233" "ADAMTS13_000007" "g.136320524C>T" "" "{PMID:Matsumoto et al (2004):14563640}" "" "" "submitted through SIB; {EXP:027136}; The mutation results in reduced protein secretion and proteolytic activity" "Unknown" "" "" "0" "" "" "g.133455402C>T" "" "pathogenic" "" "0000434968" "0" "95" "9" "136321260" "136321260" "subst" "0" "00233" "ADAMTS13_000036" "g.136321260G>A" "" "{PMID:Levy et al (2001):11586351}" "" "" "submitted through SIB; {EXP:027137}" "Unknown" "" "" "0" "" "" "g.133456138G>A" "" "pathogenic" "" "0000434969" "0" "95" "9" "136321277" "136321277" "subst" "0.00000406527" "00233" "ADAMTS13_000006" "g.136321277C>T" "" "{PMID:Donadelli et al (2006):17003922}" "" "" "submitted through SIB; {EXP:067793}; The mutation results in reduced protein secretion and proteolytic activity" "Unknown" "" "" "0" "" "" "g.133456155C>T" "" "pathogenic" "" "0000434970" "0" "95" "9" "136321665" "136321665" "subst" "0" "00233" "ADAMTS13_000028" "g.136321665G>T" "" "{PMID:Peyvandi et al (2006):16453338}" "" "" "submitted through SIB; {EXP:027138}; The mutation results in reduced protein secretion and proteolytic activity" "Unknown" "" "" "0" "" "" "g.133456543G>T" "" "pathogenic" "" "0000434971" "0" "95" "9" "136323080" "136323080" "subst" "0.000373789" "00233" "ADAMTS13_000002" "g.136323080C>T" "" "{PMID:Choi et al (2011):21488199}" "" "" "submitted through SIB; {EXP:067794}; Found in a patient with hemolytic uremic syndrome" "Unknown" "" "" "0" "" "" "g.133457958C>T" "" "pathogenic" "" "0000434972" "0" "95" "9" "136323145" "136323145" "subst" "0.0000122059" "00233" "ADAMTS13_000044" "g.136323145C>T" "" "{PMID:Antoine et al (2003):12614216}" "" "" "submitted through SIB; {EXP:027139}; The mutation results in reduced protein secretion and proteolytic activity" "Unknown" "" "" "0" "" "" "g.133458023C>T" "" "pathogenic" "" "0000536965" "0" "10" "9" "136287582" "136287582" "subst" "0.0909413" "02327" "ADAMTS13_000062" "g.136287582C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133422462C>T" "" "benign" "" "0000536966" "0" "10" "9" "136291361" "136291361" "subst" "0.0580992" "02327" "ADAMTS13_000063" "g.136291361C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133426241C>T" "" "benign" "" "0000536967" "0" "10" "9" "136291469" "136291469" "subst" "0.0582957" "02327" "ADAMTS13_000064" "g.136291469T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133426349T>G" "" "benign" "" "0000536968" "0" "10" "9" "136294730" "136294730" "dup" "0" "02326" "ADAMTS13_000065" "g.136294730dup" "" "" "" "ADAMTS13(NM_139025.4):c.825-329dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133429610dup" "" "benign" "" "0000536969" "0" "10" "9" "136295232" "136295232" "subst" "0.0853657" "02327" "ADAMTS13_000066" "g.136295232C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133430112C>T" "" "benign" "" "0000536970" "0" "10" "9" "136301982" "136301982" "subst" "0.380484" "02327" "ADAMTS13_000052" "g.136301982C>G" "" "" "" "ADAMTS13(NM_139025.4):c.1342C>G (p.Q448E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133436862C>G" "" "benign" "" "0000536971" "0" "50" "9" "136305530" "136305530" "subst" "0.0607848" "02327" "ADAMTS13_000054" "g.136305530C>G" "" "" "" "ADAMTS13(NM_139025.4):c.1852C>G (p.P618A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133440409C>G" "" "VUS" "" "0000536972" "0" "50" "9" "136305552" "136305552" "subst" "0.00513469" "02327" "ADAMTS13_000055" "g.136305552G>A" "" "" "" "ADAMTS13(NM_139025.4):c.1874G>A (p.R625H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133440431G>A" "" "VUS" "" "0000536973" "0" "10" "9" "136310917" "136310917" "subst" "0.00339707" "02326" "ADAMTS13_000067" "g.136310917C>T" "" "" "" "ADAMTS13(NM_139025.4):c.2708C>T (p.S903L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133445796C>T" "" "benign" "" "0000536974" "0" "10" "9" "136314952" "136314952" "subst" "0.0316552" "02327" "ADAMTS13_000068" "g.136314952C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133449831C>T" "" "benign" "" "0000536975" "0" "90" "9" "136319539" "136319539" "subst" "0" "02327" "ADAMTS13_000069" "g.136319539G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133454417G>A" "" "pathogenic" "" "0000536976" "0" "30" "9" "136319589" "136319589" "subst" "0.0311154" "02327" "ADAMTS13_000070" "g.136319589G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133454467G>A" "" "likely benign" "" "0000536977" "0" "10" "9" "136319600" "136319600" "subst" "0.032706" "02327" "ADAMTS13_000071" "g.136319600G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133454478G>A" "" "benign" "" "0000536978" "0" "10" "9" "136324239" "136324239" "subst" "0.312719" "02327" "CACFD1_000001" "g.136324239C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133459117C>A" "" "benign" "" "0000611951" "0" "50" "9" "136303453" "136303453" "subst" "0.0000528301" "01943" "ADAMTS13_000074" "g.136303453C>T" "" "" "" "ADAMTS13(NM_139025.4):c.1672C>T (p.R558W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133438333C>T" "" "VUS" "" "0000611952" "0" "50" "9" "136308556" "136308556" "subst" "0" "01943" "ADAMTS13_000075" "g.136308556G>A" "" "" "" "ADAMTS13(NM_139025.4):c.2294G>A (p.R765Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133443435G>A" "" "VUS" "" "0000624801" "3" "30" "9" "136314957" "136314957" "subst" "0.000402852" "00006" "ADAMTS13_000073" "g.136314957G>A" "" "{PMID:Dias 2019:31668703}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133449836G>A" "" "likely benign" "" "0000652646" "1" "30" "9" "136287582" "136287582" "subst" "0.0909413" "03575" "ADAMTS13_000062" "g.136287582C>T" "209/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "209 heterozygous; {DB:CLININrs34024143}" "Germline" "" "rs34024143" "0" "" "" "g.133422462C>T" "" "likely benign" "" "0000652647" "1" "30" "9" "136319589" "136319589" "subst" "0.0311154" "03575" "ADAMTS13_000070" "g.136319589G>A" "101/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "101 heterozygous; {DB:CLININrs28503257}" "Germline" "" "rs28503257" "0" "" "" "g.133454467G>A" "" "likely benign" "" "0000656267" "0" "90" "9" "136320698" "136320698" "subst" "0.00184239" "01804" "CACFD1_000003" "g.136320698G>A" "" "" "" "ADAMTS13(NM_139025.3):c.3541G>A (p.(Gly1181Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133455576G>A" "" "pathogenic" "" "0000670051" "3" "30" "9" "136287582" "136287582" "subst" "0.0909413" "03575" "ADAMTS13_000062" "g.136287582C>T" "8/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs34024143}" "Germline" "" "rs34024143" "0" "" "" "g.133422462C>T" "" "likely benign" "" "0000670052" "3" "30" "9" "136319589" "136319589" "subst" "0.0311154" "03575" "ADAMTS13_000070" "g.136319589G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs28503257}" "Germline" "" "rs28503257" "0" "" "" "g.133454467G>A" "" "likely benign" "" "0000678580" "0" "30" "9" "136298561" "136298561" "subst" "0.000020355" "01943" "ADAMTS13_000076" "g.136298561C>A" "" "" "" "ADAMTS13(NM_139025.4):c.1156C>A (p.R386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678581" "0" "30" "9" "136298562" "136298562" "subst" "0.000305375" "01943" "ADAMTS13_000077" "g.136298562G>A" "" "" "" "ADAMTS13(NM_139025.4):c.1157G>A (p.R386H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678582" "0" "30" "9" "136320580" "136320580" "subst" "0.000170247" "01943" "ADAMTS13_000078" "g.136320580C>T" "" "" "" "ADAMTS13(NM_139025.4):c.3423C>T (p.H1141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684775" "0" "30" "9" "136310917" "136310917" "subst" "0.00339707" "00004" "ADAMTS13_000067" "g.136310917C>T" "frequency 0.022" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.133445796C>T" "" "likely benign" "" "0000690451" "0" "30" "9" "136293869" "136293869" "subst" "0" "01943" "ADAMTS13_000079" "g.136293869C>A" "" "" "" "ADAMTS13(NM_139025.4):c.802C>A (p.R268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722349" "0" "30" "9" "136298758" "136298758" "subst" "0.000942944" "01943" "ADAMTS13_000080" "g.136298758C>T" "" "" "" "ADAMTS13(NM_139025.4):c.1245-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722350" "0" "50" "9" "136302010" "136302010" "subst" "0.00227946" "01943" "ADAMTS13_000045" "g.136302010C>T" "" "" "" "ADAMTS13(NM_139025.4):c.1370C>T (p.P457L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722351" "0" "50" "9" "136307527" "136307527" "subst" "0.000146234" "01943" "ADAMTS13_000081" "g.136307527G>A" "" "" "" "ADAMTS13(NM_139025.4):c.1976G>A (p.R659K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803937" "0" "30" "9" "136293836" "136293836" "subst" "0" "01943" "ADAMTS13_000082" "g.136293836C>A" "" "" "" "ADAMTS13(NM_139025.4):c.769C>A (p.R257S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803938" "0" "30" "9" "136319663" "136319663" "subst" "0.000641455" "01943" "ADAMTS13_000083" "g.136319663G>A" "" "" "" "ADAMTS13(NM_139025.4):c.3171G>A (p.A1057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852163" "0" "30" "9" "136290675" "136290675" "subst" "0.00308078" "02327" "ADAMTS13_000084" "g.136290675C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861537" "0" "30" "9" "136293898" "136293898" "subst" "0" "01943" "ADAMTS13_000085" "g.136293898G>A" "" "" "" "ADAMTS13(NM_139025.4):c.824+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861538" "0" "30" "9" "136295170" "136295170" "subst" "0.00338379" "02326" "ADAMTS13_000086" "g.136295170C>T" "" "" "" "ADAMTS13(NM_139025.4):c.936C>T (p.R312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861539" "0" "70" "9" "136297779" "136297779" "subst" "0" "02327" "ADAMTS13_000005" "g.136297779C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861540" "0" "30" "9" "136298841" "136298841" "subst" "0.00105694" "02326" "ADAMTS13_000087" "g.136298841G>T" "" "" "" "ADAMTS13(NM_139025.4):c.1308+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861541" "0" "30" "9" "136305458" "136305458" "subst" "0.00103239" "02326" "ADAMTS13_000088" "g.136305458C>T" "" "" "" "ADAMTS13(NM_139025.4):c.1787-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861542" "0" "30" "9" "136313700" "136313700" "subst" "0.000951808" "02326" "ADAMTS13_000089" "g.136313700T>G" "" "" "" "ADAMTS13(NM_139025.4):c.2732-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861543" "0" "50" "9" "136320698" "136320698" "subst" "0.00184239" "02327" "CACFD1_000003" "g.136320698G>A" "" "" "" "ADAMTS13(NM_139025.3):c.3541G>A (p.(Gly1181Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ADAMTS13 ## Count = 119 "{{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}}" "0000001266" "00000052" "50" "3070" "0" "3070" "0" "c.3070T>G" "r.(?)" "p.(Cys1024Gly)" "" "0000001267" "00000052" "50" "1370" "0" "1370" "0" "c.1370C>T" "r.(?)" "p.(Pro457Leu)" "" "0000248615" "00000052" "10" "1716" "0" "1716" "0" "c.1716A>G" "r.(?)" "p.(Thr572=)" "" "0000249129" "00000052" "10" "987" "69" "987" "69" "c.987+69A>C" "r.(=)" "p.(=)" "" "0000258926" "00000052" "10" "1852" "0" "1852" "0" "c.1852C>G" "r.(?)" "p.(Pro618Ala)" "" "0000258927" "00000052" "10" "2280" "0" "2280" "0" "c.2280C>T" "r.(?)" "p.(Gly760=)" "" "0000258928" "00000052" "10" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(Ala140=)" "" "0000260601" "00000052" "10" "1342" "0" "1342" "0" "c.1342C>G" "r.(?)" "p.(Gln448Glu)" "" "0000260602" "00000052" "10" "1874" "0" "1874" "0" "c.1874G>A" "r.(?)" "p.(Arg625His)" "" "0000260603" "00000052" "10" "2861" "75" "2861" "75" "c.2861+75G>A" "r.(=)" "p.(=)" "" "0000260604" "00000052" "10" "3045" "-41" "3045" "-41" "c.3045-41G>A" "r.(=)" "p.(=)" "" "0000260605" "00000052" "10" "3045" "-48" "3045" "-48" "c.3045-48T>C" "r.(=)" "p.(=)" "" "0000260606" "00000052" "10" "825" "-170" "825" "-170" "c.825-170T>C" "r.(=)" "p.(=)" "" "0000260608" "00000052" "10" "988" "-76" "988" "-76" "c.988-76G>A" "r.(=)" "p.(=)" "" "0000341575" "00000052" "30" "2195" "0" "2195" "0" "c.2195C>T" "r.(?)" "p.(Ala732Val)" "" "0000354818" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354827" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354834" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354835" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354844" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354848" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354851" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354863" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354870" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354878" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354879" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354886" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000354893" "00000052" "00" "19" "0" "19" "0" "c.19C>K" "r.(?)" "p.(Arg7GlyˆTrp)" "" "0000434922" "00000052" "95" "237" "0" "237" "0" "c.237C>G" "r.(?)" "p.(Ile79Met)" "?" "0000434923" "00000052" "95" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Met)" "?" "0000434924" "00000052" "95" "286" "0" "286" "0" "c.286C>G" "r.(?)" "p.(His96Asp)" "?" "0000434925" "00000052" "95" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Cys)" "?" "0000434926" "00000052" "95" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Ser119Phe)" "?" "0000434927" "00000052" "95" "533" "0" "533" "0" "c.533T>C" "r.(?)" "p.(Ile178Thr)" "?" "0000434928" "00000052" "95" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Trp)" "?" "0000434929" "00000052" "95" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Trp)" "?" "0000434930" "00000052" "95" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Ile)" "?" "0000434931" "00000052" "95" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Ile)" "?" "0000434932" "00000052" "95" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Ser203Pro)" "?" "0000434933" "00000052" "95" "695" "0" "695" "0" "c.695T>A" "r.(?)" "p.(Leu232Gln)" "?" "0000434934" "00000052" "95" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(His234Gln)" "?" "0000434935" "00000052" "95" "703" "0" "703" "0" "c.703G>C" "r.(?)" "p.(Asp235His)" "?" "0000434936" "00000052" "95" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Ala250Val)" "?" "0000434937" "00000052" "95" "788" "0" "788" "0" "c.788C>G" "r.(?)" "p.(Ser263Cys)" "?" "0000434938" "00000052" "95" "803" "0" "803" "0" "c.803G>C" "r.(?)" "p.(Arg268Pro)" "?" "0000434939" "00000052" "95" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Tyr304Cys)" "?" "0000434940" "00000052" "95" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Cys311Tyr)" "?" "0000434941" "00000052" "95" "1039" "0" "1039" "0" "c.1039T>A" "r.(?)" "p.(Cys347Ser)" "?" "0000434942" "00000052" "95" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Arg349Cys)" "?" "0000434943" "00000052" "95" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Pro353Leu)" "?" "0000434944" "00000052" "95" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Pro353Leu)" "?" "0000434945" "00000052" "95" "1170" "0" "1170" "0" "c.1170G>C" "r.(?)" "p.(Trp390Cys)" "?" "0000434946" "00000052" "95" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Arg398His)" "?" "0000434947" "00000052" "95" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Arg507Gln)" "?" "0000434948" "00000052" "95" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Arg507Gln)" "?" "0000434949" "00000052" "95" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Cys508Tyr)" "?" "0000434950" "00000052" "95" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Gly525Asp)" "?" "0000434951" "00000052" "95" "1582" "0" "1582" "0" "c.1582A>G" "r.(?)" "p.(Arg528Gly)" "?" "0000434952" "00000052" "95" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ala596Val)" "?" "0000434953" "00000052" "95" "1816" "0" "1816" "0" "c.1816G>C" "r.(?)" "p.(Ala606Pro)" "?" "0000434954" "00000052" "95" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Tyr658Cys)" "?" "0000434955" "00000052" "95" "2012" "0" "2012" "0" "c.2012C>T" "r.(?)" "p.(Pro671Leu)" "?" "0000434956" "00000052" "95" "2017" "0" "2017" "0" "c.2017A>T" "r.(?)" "p.(Ile673Phe)" "?" "0000434957" "00000052" "95" "2074" "0" "2074" "0" "c.2074C>T" "r.(?)" "p.(Arg692Cys)" "?" "0000434958" "00000052" "95" "2272" "0" "2272" "0" "c.2272T>C" "r.(?)" "p.(Cys758Arg)" "?" "0000434959" "00000052" "95" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Cys908Tyr)" "?" "0000434960" "00000052" "95" "2723" "0" "2723" "0" "c.2723G>C" "r.(?)" "p.(Cys908Ser)" "?" "0000434961" "00000052" "95" "2851" "0" "2851" "0" "c.2851T>G" "r.(?)" "p.(Cys951Gly)" "?" "0000434962" "00000052" "95" "3070" "0" "3070" "0" "c.3070T>G" "r.(?)" "p.(Cys1024Gly)" "?" "0000434963" "00000052" "95" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "?" "0000434964" "00000052" "95" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "?" "0000434965" "00000052" "95" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "?" "0000434966" "00000052" "95" "3367" "0" "3367" "0" "c.3367C>T" "r.(?)" "p.(Arg1123Cys)" "?" "0000434967" "00000052" "95" "3367" "0" "3367" "0" "c.3367C>T" "r.(?)" "p.(Arg1123Cys)" "?" "0000434968" "00000052" "95" "3638" "0" "3638" "0" "c.3638G>A" "r.(?)" "p.(Cys1213Tyr)" "?" "0000434969" "00000052" "95" "3655" "0" "3655" "0" "c.3655C>T" "r.(?)" "p.(Arg1219Trp)" "?" "0000434970" "00000052" "95" "3716" "0" "3716" "0" "c.3716G>T" "r.(?)" "p.(Gly1239Val)" "?" "0000434971" "00000052" "95" "3941" "0" "3941" "0" "c.3941C>T" "r.(?)" "p.(Ser1314Leu)" "?" "0000434972" "00000052" "95" "4006" "0" "4006" "0" "c.4006C>T" "r.(?)" "p.(Arg1336Trp)" "?" "0000536965" "00000052" "10" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7Trp)" "" "0000536966" "00000052" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Gly194=)" "" "0000536967" "00000052" "10" "686" "4" "686" "4" "c.686+4T>G" "r.spl?" "p.?" "" "0000536968" "00000052" "10" "825" "-329" "825" "-329" "c.825-329dup" "r.(=)" "p.(=)" "" "0000536969" "00000052" "10" "987" "11" "987" "11" "c.987+11C>T" "r.(=)" "p.(=)" "" "0000536970" "00000052" "10" "1342" "0" "1342" "0" "c.1342C>G" "r.(?)" "p.(Gln448Glu)" "" "0000536971" "00000052" "50" "1852" "0" "1852" "0" "c.1852C>G" "r.(?)" "p.(Pro618Ala)" "" "0000536972" "00000052" "50" "1874" "0" "1874" "0" "c.1874G>A" "r.(?)" "p.(Arg625His)" "" "0000536973" "00000052" "10" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Ser903Leu)" "" "0000536974" "00000052" "10" "2910" "0" "2910" "0" "c.2910C>T" "r.(?)" "p.(Val970=)" "" "0000536975" "00000052" "90" "3047" "0" "3047" "0" "c.3047G>A" "r.(?)" "p.(Trp1016Ter)" "" "0000536976" "00000052" "30" "3097" "0" "3097" "0" "c.3097G>A" "r.(?)" "p.(Ala1033Thr)" "" "0000536977" "00000052" "10" "3108" "0" "3108" "0" "c.3108G>A" "r.(?)" "p.(Ser1036=)" "" "0000536978" "00000052" "10" "4221" "0" "4221" "0" "c.4221C>A" "r.(?)" "p.(Thr1407=)" "" "0000611951" "00000052" "50" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0000611952" "00000052" "50" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Arg765Gln)" "" "0000624801" "00000052" "30" "2915" "0" "2915" "0" "c.2915G>A" "r.(?)" "p.(Arg972Gln)" "" "0000652646" "00000052" "30" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7Trp)" "" "0000652647" "00000052" "30" "3097" "0" "3097" "0" "c.3097G>A" "r.(?)" "p.(Ala1033Thr)" "" "0000656267" "00000052" "90" "3541" "0" "3541" "0" "c.3541G>A" "r.(?)" "p.(Gly1181Arg)" "" "0000670051" "00000052" "30" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7Trp)" "" "0000670052" "00000052" "30" "3097" "0" "3097" "0" "c.3097G>A" "r.(?)" "p.(Ala1033Thr)" "" "0000678580" "00000052" "30" "1156" "0" "1156" "0" "c.1156C>A" "r.(?)" "p.(Arg386Ser)" "" "0000678581" "00000052" "30" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386His)" "" "0000678582" "00000052" "30" "3423" "0" "3423" "0" "c.3423C>T" "r.(?)" "p.(His1141=)" "" "0000684775" "00000052" "30" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Ser903Leu)" "" "0000690451" "00000052" "30" "802" "0" "802" "0" "c.802C>A" "r.(?)" "p.(Arg268=)" "" "0000722349" "00000052" "30" "1245" "-3" "1245" "-3" "c.1245-3C>T" "r.spl?" "p.?" "" "0000722350" "00000052" "50" "1370" "0" "1370" "0" "c.1370C>T" "r.(?)" "p.(Pro457Leu)" "" "0000722351" "00000052" "50" "1976" "0" "1976" "0" "c.1976G>A" "r.(?)" "p.(Arg659Lys)" "" "0000803937" "00000052" "30" "769" "0" "769" "0" "c.769C>A" "r.(?)" "p.(Arg257Ser)" "" "0000803938" "00000052" "30" "3171" "0" "3171" "0" "c.3171G>A" "r.(?)" "p.(Ala1057=)" "" "0000852163" "00000052" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Ser119=)" "" "0000861537" "00000052" "30" "824" "7" "824" "7" "c.824+7G>A" "r.(=)" "p.(=)" "" "0000861538" "00000052" "30" "936" "0" "936" "0" "c.936C>T" "r.(?)" "p.(Arg312=)" "" "0000861539" "00000052" "70" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Pro353Leu)" "" "0000861540" "00000052" "30" "1308" "17" "1308" "17" "c.1308+17G>T" "r.(=)" "p.(=)" "" "0000861541" "00000052" "30" "1787" "-7" "1787" "-7" "c.1787-7C>T" "r.(=)" "p.(=)" "" "0000861542" "00000052" "30" "2732" "-20" "2732" "-20" "c.2732-20T>G" "r.(=)" "p.(=)" "" "0000861543" "00000052" "50" "3541" "0" "3541" "0" "c.3541G>A" "r.(?)" "p.(Gly1181Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 72 "{{screeningid}}" "{{variantid}}" "0000000081" "0000001267" "0000000100" "0000001266" "0000154569" "0000354818" "0000154601" "0000354827" "0000154617" "0000354834" "0000154619" "0000354835" "0000154644" "0000354844" "0000154652" "0000354848" "0000154663" "0000354851" "0000154720" "0000354863" "0000154749" "0000354870" "0000154767" "0000354878" "0000154768" "0000354879" "0000154788" "0000354886" "0000154821" "0000354893" "0000205536" "0000434922" "0000205537" "0000434923" "0000205538" "0000434924" "0000205539" "0000434925" "0000205540" "0000434926" "0000205541" "0000434927" "0000205542" "0000434928" "0000205543" "0000434929" "0000205544" "0000434930" "0000205545" "0000434931" "0000205546" "0000434932" "0000205547" "0000434933" "0000205548" "0000434934" "0000205549" "0000434935" "0000205550" "0000434936" "0000205551" "0000434937" "0000205552" "0000434938" "0000205553" "0000434939" "0000205554" "0000434940" "0000205555" "0000434941" "0000205556" "0000434942" "0000205557" "0000434943" "0000205558" "0000434944" "0000205559" "0000434945" "0000205560" "0000434946" "0000205561" "0000434947" "0000205562" "0000434948" "0000205563" "0000434949" "0000205564" "0000434950" "0000205565" "0000434951" "0000205566" "0000434952" "0000205567" "0000434953" "0000205568" "0000434954" "0000205569" "0000434955" "0000205570" "0000434956" "0000205571" "0000434957" "0000205572" "0000434958" "0000205573" "0000434959" "0000205574" "0000434960" "0000205575" "0000434961" "0000205576" "0000434962" "0000205577" "0000434963" "0000205578" "0000434964" "0000205579" "0000434965" "0000205580" "0000434966" "0000205581" "0000434967" "0000205582" "0000434968" "0000205583" "0000434969" "0000205584" "0000434970" "0000205585" "0000434971" "0000205586" "0000434972" "0000266458" "0000624801" "0000295957" "0000652646" "0000295958" "0000652647" "0000306363" "0000670051" "0000306364" "0000670052" "0000309873" "0000684775"