### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASL) # 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}}" "ASL" "argininosuccinate lyase" "7" "q11.21" "unknown" "NG_009288.1" "UD_129724882505" "" "https://www.LOVD.nl/ASL" "" "1" "746" "435" "608310" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ASL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-20 00:00:00" "00006" "2017-07-25 16:33:17" "00000" "2021-09-17 14:40:49" ## 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}}" "00002982" "ASL" "transcript variant 2" "001" "NM_000048.3" "" "NP_000039.2" "" "" "" "-111" "1826" "1395" "65540776" "65558330" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "01663" "-" "argininosuccinic aciduria" "AR" "207900" "" "autosomal recessive" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "ASL" "00139" "ASL" "01663" ## Individuals ## Do not remove or alter this header ## ## Count = 62 "{{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}}" "00080936" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00108488" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108489" "" "" "" "1" "" "00006" "" "" "M" "" "Morocco" "" "0" "" "" "" "" "00108490" "" "" "" "1" "" "00006" "" "" "" "" "Poland" "" "0" "" "" "" "" "00108491" "" "" "" "1" "" "00006" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00108492" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108493" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108494" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" "" "00108495" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108496" "" "" "" "1" "" "00006" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00108497" "" "" "" "1" "" "00006" "" "" "M" "" "Germany" "" "0" "" "" "Egyptian" "" "00108498" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108499" "" "" "" "1" "" "00006" "" "" "F" "" "" "" "0" "" "" "Arabic" "" "00108500" "" "" "" "1" "" "00006" "" "" "F" "" "" "" "0" "" "" "Arabic" "" "00108501" "" "" "" "1" "" "00006" "" "" "F" "" "" "" "0" "" "" "Arabic" "" "00108502" "" "" "" "1" "" "00006" "" "" "F" "" "Turkey" "" "0" "" "" "" "" "00108503" "" "" "" "1" "" "00006" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00108504" "" "" "" "1" "" "00006" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00108505" "" "" "" "1" "" "00006" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00108506" "" "" "" "1" "" "00006" "" "" "F" "" "Bulgaria" "" "0" "" "" "" "" "00108507" "" "" "" "1" "" "00006" "" "" "M" "" "China" "" "0" "" "" "" "" "00108508" "" "" "" "1" "" "00006" "" "" "M" "" "Czech Republic" "" "0" "" "" "" "" "00108509" "" "" "" "1" "" "00006" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00108510" "" "" "" "1" "" "00006" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00108511" "" "" "" "1" "" "00006" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00108512" "" "" "" "1" "" "00006" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00108513" "" "" "" "1" "" "00006" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00108514" "" "" "" "1" "" "00006" "" "" "M" "" "China" "" "0" "" "" "" "" "00108515" "" "" "" "1" "" "00006" "" "" "M" "" "Spain" "" "0" "" "" "Gypsy" "" "00108516" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108517" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108518" "" "" "" "1" "" "00006" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00108519" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108520" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108521" "" "" "" "3" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108522" "" "" "" "1" "" "00006" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00108523" "" "" "" "2" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108524" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" "" "00108525" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" "" "00108526" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108527" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" "" "00108528" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00108529" "" "" "" "1" "" "00006" "" "" "F" "" "Belgium" "" "0" "" "" "" "" "00108530" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108531" "" "" "" "67" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108532" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00108533" "" "" "" "1" "" "00006" "" "" "M" "" "Israel" "" "0" "" "" "Arabic" "" "00108534" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108535" "" "" "" "1" "" "00006" "" "" "M" "" "Lebanon" "" "0" "" "" "" "" "00108536" "" "" "" "1" "" "00006" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00108537" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108538" "" "" "" "2" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108539" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108540" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108541" "" "" "" "1" "" "00006" "" "" "M" "" "Israel" "" "0" "" "" "Arabic" "" "00108542" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00248293" "" "" "" "1" "" "00006" "{PMID:Häberle and Koch 2004:15164414}" "prenatal diagnosis, fetus affected" "" "" "" "" "0" "" "" "Druze" "Fam11" "00248294" "" "" "" "1" "" "00006" "{PMID:Häberle and Koch 2004:15164414}" "prenatal diagnosis, fetus not affected" "" "" "Kuwait" "" "0" "" "" "" "Fam12" "00294487" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294488" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294489" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295559" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 62 "{{individualid}}" "{{diseaseid}}" "00080936" "01663" "00108488" "01663" "00108489" "01663" "00108490" "01663" "00108491" "01663" "00108492" "01663" "00108493" "01663" "00108494" "01663" "00108495" "00198" "00108496" "01663" "00108497" "01663" "00108498" "01663" "00108499" "01663" "00108500" "01663" "00108501" "01663" "00108502" "01663" "00108503" "01663" "00108504" "01663" "00108505" "01663" "00108506" "01663" "00108507" "01663" "00108508" "01663" "00108509" "01663" "00108510" "01663" "00108511" "01663" "00108512" "01663" "00108513" "01663" "00108514" "01663" "00108515" "01663" "00108516" "00198" "00108517" "00198" "00108518" "01663" "00108519" "01663" "00108520" "00198" "00108521" "00198" "00108522" "01663" "00108523" "00198" "00108524" "01663" "00108525" "01663" "00108526" "01663" "00108527" "00198" "00108528" "01663" "00108529" "01663" "00108530" "00198" "00108531" "00198" "00108532" "01663" "00108533" "01663" "00108534" "00198" "00108535" "01663" "00108536" "01663" "00108537" "00198" "00108538" "00198" "00108539" "00198" "00108540" "00198" "00108541" "01663" "00108542" "01663" "00248293" "01663" "00248294" "01663" "00294487" "00198" "00294488" "00198" "00294489" "00198" "00295559" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01663 ## Count = 8 "{{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}}" "0000060505" "01663" "00080936" "01758" "Familial, autosomal recessive" "" "Argininosuccinic aciduria (OMIM:207900)" "" "" "" "" "" "" "" "" "" "" "" "0000086073" "01663" "00108494" "00006" "Isolated (sporadic)" "" "late-onset" "" "" "" "" "" "" "" "" "" "" "" "0000086074" "01663" "00108524" "00006" "Isolated (sporadic)" "" "neonatal-onset" "" "" "" "" "" "" "" "" "" "" "" "0000086075" "01663" "00108525" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086077" "00198" "00108527" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187302" "01663" "00248293" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "ASL deficiency" "" "0000187303" "01663" "00248294" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "ASL deficiency" "" "0000223124" "00198" "00295559" "01164" "Unknown" "" "Abnormality of central motor function (HP:0011442); Progressive cerebellar ataxia (HP:0002073)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 62 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081048" "00080936" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000108955" "00108488" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108956" "00108489" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108957" "00108490" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108958" "00108491" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108959" "00108492" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108960" "00108493" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108961" "00108494" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108962" "00108495" "1" "00006" "00006" "2009-04-04 21:25:35" "" "" "SEQ" "DNA" "" "" "0000108963" "00108496" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108964" "00108497" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108965" "00108498" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108966" "00108499" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108967" "00108500" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108968" "00108501" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108969" "00108502" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108970" "00108503" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108971" "00108504" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108972" "00108505" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108973" "00108506" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108974" "00108507" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108975" "00108508" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108976" "00108509" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108977" "00108510" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108978" "00108511" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108979" "00108512" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108980" "00108513" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108981" "00108514" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108982" "00108515" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108983" "00108516" "1" "00006" "00006" "2009-04-04 21:25:35" "" "" "SEQ" "DNA" "" "" "0000108984" "00108517" "1" "00006" "00006" "2009-04-04 21:25:35" "" "" "MCA;SEQ" "DNA" "" "" "0000108985" "00108518" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108986" "00108519" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108987" "00108520" "1" "00006" "00006" "2009-04-04 21:25:35" "" "" "SEQ" "DNA" "" "" "0000108988" "00108521" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2009-04-04 21:28:35" "MCA;SEQ" "DNA" "" "" "0000108989" "00108522" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108990" "00108523" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2009-04-04 21:26:52" "MCA;SEQ" "DNA" "" "" "0000108991" "00108524" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "SEQ" "DNA" "" "" "0000108992" "00108525" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108993" "00108526" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108994" "00108527" "1" "00006" "00006" "2009-04-04 21:25:35" "" "" "SEQ" "DNA" "" "" "0000108995" "00108528" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108996" "00108529" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000108997" "00108530" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2009-04-04 21:30:20" "SEQ" "DNA" "" "" "0000108998" "00108531" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2009-04-04 21:29:45" "MCA;SEQ" "DNA" "" "" "0000108999" "00108532" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109000" "00108533" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109001" "00108534" "1" "00006" "00006" "2009-04-04 21:25:35" "" "" "SEQ" "DNA" "" "" "0000109002" "00108535" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109003" "00108536" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109004" "00108537" "1" "00006" "00006" "2009-04-04 21:25:35" "" "" "SEQ" "DNA" "" "" "0000109005" "00108538" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2009-04-04 21:27:16" "MCA;SEQ" "DNA" "" "" "0000109006" "00108539" "1" "00006" "00006" "2009-04-04 21:25:35" "" "" "MCA;SEQ" "DNA" "" "" "0000109007" "00108540" "1" "00006" "00006" "2009-04-04 21:25:35" "" "" "MCA;SEQ" "DNA" "" "" "0000109008" "00108541" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109009" "00108542" "1" "00006" "00006" "2009-04-04 21:25:35" "00006" "2011-01-24 21:52:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000249398" "00248293" "1" "00006" "00006" "2019-07-21 09:07:39" "" "" "SEQ" "DNA" "" "" "0000249399" "00248294" "1" "00006" "00006" "2019-07-21 09:07:39" "" "" "SEQ" "DNA" "" "" "0000295655" "00294487" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295656" "00294488" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295657" "00294489" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296729" "00295559" "1" "01164" "01164" "2020-03-18 10:48:08" "" "" "SEQ-NG-S" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 58 "{{screeningid}}" "{{geneid}}" "0000081048" "ASL" "0000108955" "ASL" "0000108956" "ASL" "0000108957" "ASL" "0000108958" "ASL" "0000108959" "ASL" "0000108960" "ASL" "0000108961" "ASL" "0000108962" "ASL" "0000108963" "ASL" "0000108964" "ASL" "0000108965" "ASL" "0000108966" "ASL" "0000108967" "ASL" "0000108968" "ASL" "0000108969" "ASL" "0000108970" "ASL" "0000108971" "ASL" "0000108972" "ASL" "0000108973" "ASL" "0000108974" "ASL" "0000108975" "ASL" "0000108976" "ASL" "0000108977" "ASL" "0000108978" "ASL" "0000108979" "ASL" "0000108980" "ASL" "0000108981" "ASL" "0000108982" "ASL" "0000108983" "ASL" "0000108984" "ASL" "0000108985" "ASL" "0000108986" "ASL" "0000108987" "ASL" "0000108988" "ASL" "0000108989" "ASL" "0000108990" "ASL" "0000108991" "ASL" "0000108992" "ASL" "0000108993" "ASL" "0000108994" "ASL" "0000108995" "ASL" "0000108996" "ASL" "0000108997" "ASL" "0000108998" "ASL" "0000108999" "ASL" "0000109000" "ASL" "0000109001" "ASL" "0000109002" "ASL" "0000109003" "ASL" "0000109004" "ASL" "0000109005" "ASL" "0000109006" "ASL" "0000109007" "ASL" "0000109008" "ASL" "0000109009" "ASL" "0000249398" "ASL" "0000249399" "ASL" ## 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 = 128 "{{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}}" "0000130134" "3" "90" "7" "65554680" "65554680" "subst" "0" "01758" "ASL_000038" "g.65554680C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.66089693C>T" "" "pathogenic" "ACMG" "0000174976" "1" "10" "7" "65551762" "65551762" "subst" "0.00110848" "00006" "ASL_000001" "g.65551762C>A" "1/94" "{PMID:Mitchell 2009:18666241}" "" "Arg186Arg" "" "Germline" "" "" "0" "" "" "g.66086775C>A" "" "benign" "" "0000174977" "1" "10" "7" "65551821" "65551821" "subst" "0.051458" "00006" "ASL_000002" "g.65551821C>T" "" "" "" "" "" "Germline" "" "rs12536292" "0" "" "" "g.66086834C>T" "" "benign" "" "0000174978" "1" "10" "7" "65551821" "65551821" "subst" "0.051458" "00006" "ASL_000002" "g.65551821C>T" "3/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.66086834C>T" "" "benign" "" "0000174979" "1" "10" "7" "65552792" "65552792" "subst" "0.0226416" "00006" "ASL_000003" "g.65552792A>T" "2/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.66087805A>T" "" "benign" "" "0000174980" "1" "10" "7" "65554265" "65554265" "subst" "0" "00006" "ASL_000029" "g.65554265T>C" "" "{PMID:Stadler 2001:11486903}" "" "" "" "Germline" "" "" "0" "" "" "g.66089278T>C" "" "benign" "" "0000174981" "2" "10" "7" "65554265" "65554265" "subst" "0" "00006" "ASL_000029" "g.65554265T>C" "" "{PMID:Stadler 2001:11486903}" "" "" "" "Germline" "" "" "0" "" "" "g.66089278T>C" "" "benign" "" "0000174982" "1" "10" "7" "65554352" "65554352" "subst" "0.750801" "00006" "ASL_000004" "g.65554352C>T" "" "" "" "" "" "Germline" "" "rs160647" "0" "" "" "g.66089365C>T" "" "benign" "" "0000174983" "1" "10" "7" "65554352" "65554352" "subst" "0.750801" "00006" "ASL_000004" "g.65554352C>T" "67/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.66089365C>T" "" "benign" "" "0000174984" "1" "10" "7" "65557564" "65557564" "subst" "0.0218625" "00006" "ASL_000005" "g.65557564C>T" "2/94" "{PMID:Mitchell 2009:18666241}" "" "His388His" "" "Germline" "" "" "0" "" "" "g.66092577C>T" "" "benign" "" "0000174985" "1" "10" "7" "65557708" "65557708" "subst" "0.00465555" "00006" "ASL_000006" "g.65557708G>A" "1/94" "" "" "" "" "Germline" "" "rs2292938" "0" "" "" "g.66092721G>A" "" "benign" "" "0000174986" "1" "10" "7" "65557708" "65557708" "subst" "0.00465555" "00006" "ASL_000006" "g.65557708G>A" "1/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.66092721G>A" "" "benign" "" "0000174987" "0" "50" "7" "65547430" "65547430" "subst" "0" "00006" "ASL_000007" "g.65547430C>T" "" "" "" "" "" "Germline" "" "rs28940585" "0" "" "" "g.66082443C>T" "" "VUS" "" "0000174988" "0" "50" "7" "65551738" "65551738" "subst" "0.00030874" "00006" "ASL_000021" "g.65551738G>A" "" "" "" "" "" "Germline" "" "rs28941473" "0" "" "" "g.66086751G>A" "" "VUS" "" "0000174989" "0" "50" "7" "65554101" "65554101" "subst" "0.000121951" "00006" "ASL_000008" "g.65554101A>G" "" "" "" "" "enzyme activity below 3%; sporadic, consanguineous parents" "Germline" "" "rs28941472" "0" "" "" "g.66089114A>G" "" "VUS" "" "0000174990" "0" "50" "7" "65557065" "65557065" "subst" "0.0000614341" "00006" "ASL_000033" "g.65557065C>T" "" "" "" "" "" "Germline" "" "rs28940287" "0" "" "" "g.66092078C>T" "" "VUS" "" "0000174991" "0" "50" "7" "65557553" "65557553" "subst" "0.0000822551" "00006" "ASL_000033" "g.65557553C>T" "" "" "" "" "" "Germline" "" "rs28940286" "0" "" "" "g.66092566C>T" "" "VUS" "" "0000174992" "2" "90" "7" "0" "0" "" "0" "00006" "ASL_000000" "g.?" "" "{PMID:Barbosa 1991:01705937}" "" "" "RNA 2nd allele reduced expression" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174993" "0" "90" "7" "65546812" "65546812" "subst" "0.00118395" "00006" "ASL_000009" "g.65546812G>A" "" "{PMID:Sampaleanu 2001:11747432}" "" "" "" "Germline" "" "" "0" "" "" "g.66081825G>A" "" "pathogenic" "" "0000174994" "1" "90" "7" "65546952" "65546952" "subst" "0" "00006" "ASL_000008" "g.65546952G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66081965G>A" "" "pathogenic" "" "0000174995" "2" "90" "7" "65546952" "65546952" "subst" "0" "00006" "ASL_000008" "g.65546952G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66081965G>A" "" "pathogenic" "" "0000174996" "1" "90" "7" "65547404" "65547404" "subst" "0" "00006" "ASL_000010" "g.65547404A>C" "" "{PMID:Linnebank 2000:10896281}" "" "" "" "Germline" "" "" "0" "" "" "g.66082417A>C" "" "pathogenic" "" "0000174997" "1" "90" "7" "65547407" "65547407" "subst" "0" "00006" "ASL_000011" "g.65547407A>G" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66082420A>G" "" "pathogenic" "" "0000174998" "1" "90" "7" "65547407" "65547407" "subst" "0" "00006" "ASL_000011" "g.65547407A>G" "" "{PMID:Walker 1997:09045711}" "SfaNI+" "" "" "Germline" "" "" "0" "" "" "g.66082420A>G" "" "pathogenic" "" "0000174999" "2" "90" "7" "65547407" "65547407" "subst" "0" "00006" "ASL_000011" "g.65547407A>G" "" "{PMID:Walker 1997:09045711}" "SfaNI+" "" "" "Germline" "" "" "0" "" "" "g.66082420A>G" "" "pathogenic" "" "0000175000" "1" "90" "7" "65547407" "65547407" "subst" "0" "00006" "ASL_000011" "g.65547407A>G" "" "{PMID:Walker 1997:09045711}" "SfaNI+" "" "" "Germline" "" "" "0" "" "" "g.66082420A>G" "" "pathogenic" "" "0000175001" "1" "90" "7" "65547430" "65547430" "subst" "0" "00006" "ASL_000007" "g.65547430C>T" "" "{PMID:Walker 1990:02263616}, {OMIM608310:0001}" "" "" "enzyme activity ~1%; sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.66082443C>T" "" "pathogenic" "" "0000175002" "2" "90" "7" "65547430" "65547430" "subst" "0" "00006" "ASL_000007" "g.65547430C>T" "" "{PMID:Walker 1990:02263616}, {OMIM608310:0001}" "" "" "enzyme activity ~1%; sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.66082443C>T" "" "pathogenic" "" "0000175003" "1" "90" "7" "65547867" "65547867" "del" "0" "00006" "ASL_000012" "g.65547867del" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66082880del" "" "pathogenic" "" "0000175004" "1" "90" "7" "65547874" "65547874" "subst" "0.000134272" "00006" "ASL_000013" "g.65547874T>C" "" "{PMID:Linnenbank 2002:12384776}" "" "" "" "Germline" "" "" "0" "" "" "g.66082887T>C" "" "pathogenic" "" "0000175005" "1" "90" "7" "65547906" "65547906" "subst" "0" "00006" "ASL_000014" "g.65547906C>T" "" "{PMID:Barbosa 1991:01705937}" "FokI+" "" "" "Germline" "" "" "0" "" "" "g.66082919C>T" "" "pathogenic" "" "0000175006" "2" "90" "7" "65547906" "65547906" "subst" "0" "00006" "ASL_000014" "g.65547906C>T" "" "{PMID:Barbosa 1991:01705937}" "FokI+" "" "" "Germline" "" "" "0" "" "" "g.66082919C>T" "" "pathogenic" "" "0000175007" "2" "90" "7" "65547912" "65547912" "subst" "0.000126372" "00006" "ASL_000016" "g.65547912C>T" "" "{PMID:Linnebank 2000:10896281}" "" "" "" "Germline" "" "" "0" "" "" "g.66082925C>T" "" "pathogenic" "" "0000175008" "1" "90" "7" "65547921" "65547921" "subst" "0" "00006" "ASL_000015" "g.65547921C>T" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66082934C>T" "" "pathogenic" "" "0000175009" "2" "90" "7" "65547921" "65547921" "subst" "0" "00006" "ASL_000015" "g.65547921C>T" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66082934C>T" "" "pathogenic" "" "0000175010" "1" "90" "7" "65547921" "65547921" "subst" "0" "00006" "ASL_000015" "g.65547921C>T" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66082934C>T" "" "pathogenic" "" "0000175011" "2" "90" "7" "65547921" "65547921" "subst" "0" "00006" "ASL_000015" "g.65547921C>T" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66082934C>T" "" "pathogenic" "" "0000175012" "1" "90" "7" "65547921" "65547921" "subst" "0" "00006" "ASL_000015" "g.65547921C>T" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66082934C>T" "" "pathogenic" "" "0000175013" "2" "90" "7" "65547921" "65547921" "subst" "0" "00006" "ASL_000015" "g.65547921C>T" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66082934C>T" "" "pathogenic" "" "0000175014" "2" "90" "7" "65548107" "65548107" "subst" "0.00237015" "00006" "ASL_000017" "g.65548107C>T" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083120C>T" "" "pathogenic" "" "0000175015" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175016" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175017" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175018" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175019" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175020" "1" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175021" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175022" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175023" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175024" "1" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175025" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175026" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175027" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175028" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175029" "2" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "00006" "ASL_000018" "g.65548162G>A" "" "{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}" "" "IVS5+1G>A" "" "Germline" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000175030" "1" "90" "7" "65551586" "65551586" "subst" "0" "00006" "ASL_000019" "g.65551586T>C" "" "{PMID:Linnenbank 2002:12384776}" "" "" "" "Germline" "" "" "0" "" "" "g.66086599T>C" "" "pathogenic" "" "0000175031" "1" "90" "7" "65551601" "65551601" "subst" "0" "00006" "ASL_000020" "g.65551601C>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66086614C>A" "" "pathogenic" "" "0000175032" "1" "90" "7" "65551738" "65551738" "subst" "0.00030874" "00006" "ASL_000021" "g.65551738G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66086751G>A" "" "pathogenic" "" "0000175033" "1" "90" "7" "65551738" "65551738" "subst" "0.00030874" "00006" "ASL_000021" "g.65551738G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66086751G>A" "" "pathogenic" "" "0000175034" "1" "90" "7" "65551738" "65551738" "subst" "0.00030874" "00006" "ASL_000021" "g.65551738G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66086751G>A" "" "pathogenic" "" "0000175035" "1" "90" "7" "65551738" "65551738" "subst" "0.00030874" "00006" "ASL_000021" "g.65551738G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66086751G>A" "" "pathogenic" "" "0000175036" "1" "90" "7" "65551738" "65551738" "subst" "0.00030874" "00006" "ASL_000021" "g.65551738G>A" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0005}" "" "" "enzyme activity 8 %" "Germline" "" "" "0" "" "" "g.66086751G>A" "" "pathogenic" "" "0000175037" "2" "90" "7" "65551738" "65551738" "subst" "0.00030874" "00006" "ASL_000021" "g.65551738G>A" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0005}" "" "" "enzyme activity 8 %" "Germline" "" "" "0" "" "" "g.66086751G>A" "" "pathogenic" "" "0000175038" "1" "90" "7" "65551738" "65551738" "subst" "0.00030874" "00006" "ASL_000021" "g.65551738G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66086751G>A" "" "pathogenic" "" "0000175039" "1" "90" "7" "65551751" "65551751" "subst" "0.0000224529" "00006" "ASL_000022" "g.65551751G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66086764G>A" "" "pathogenic" "" "0000175040" "1" "90" "7" "65551781" "65551786" "dup" "0" "00006" "ASL_000023" "g.65551781_65551786dup" "" "{PMID:Linnenbank 2002:12384776}" "" "580insAGCGGA" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66086794_66086799dup" "" "pathogenic" "" "0000175041" "2" "90" "7" "65551784" "65551784" "subst" "0" "00006" "ASL_000024" "g.65551784G>A" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}" "" "" "enzyme activity 6 %" "Germline" "" "" "0" "" "" "g.66086797G>A" "" "pathogenic" "" "0000175042" "1" "90" "7" "65551784" "65551784" "subst" "0" "00006" "ASL_000024" "g.65551784G>A" "" "{PMID:Barbosa 1991:01705937}" "" "" "" "Germline" "" "" "0" "" "" "g.66086797G>A" "" "pathogenic" "" "0000175043" "1" "90" "7" "65552783" "65552783" "subst" "0" "00006" "ASL_000025" "g.65552783G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "IVS9+5G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66087796G>A" "" "pathogenic" "" "0000175044" "2" "90" "7" "65552783" "65552783" "subst" "0" "00006" "ASL_000025" "g.65552783G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "IVS9+5G>A" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66087796G>A" "" "pathogenic" "" "0000175045" "1" "90" "7" "65553837" "65553837" "subst" "0" "00006" "ASL_000026" "g.65553837C>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66088850C>A" "" "pathogenic" "" "0000175046" "1" "90" "7" "65554101" "65554101" "subst" "0.000121951" "00006" "ASL_000027" "g.65554101A>G" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}" "" "" "enzyme activity 6 %" "Germline" "" "" "0" "" "" "g.66089114A>G" "" "pathogenic" "" "0000175047" "1" "90" "7" "65554101" "65554101" "subst" "0.000121951" "00006" "ASL_000008" "g.65554101A>G" "" "{PMID:Walker 1997:09045711}, {OMIM608310:0002}" "" "" "enzyme activity below 3%; sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.66089114A>G" "" "pathogenic" "" "0000175048" "2" "90" "7" "65554101" "65554101" "subst" "0.000121951" "00006" "ASL_000008" "g.65554101A>G" "" "{PMID:Walker 1997:09045711}, {OMIM608310:0002}" "" "" "enzyme activity below 3%; sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.66089114A>G" "" "pathogenic" "" "0000175049" "1" "90" "7" "65554101" "65554101" "subst" "0.000121951" "00006" "ASL_000027" "g.65554101A>G" "" "{PMID:Barbosa 1991:01705937}" "HpaII+" "" "" "Germline" "" "" "0" "" "" "g.66089114A>G" "" "pathogenic" "" "0000175050" "1" "90" "7" "65554101" "65554101" "subst" "0.000121951" "00006" "ASL_000027" "g.65554101A>G" "" "{PMID:Walker 1997:09045711}" "NciI+" "" "sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.66089114A>G" "" "pathogenic" "" "0000175051" "2" "90" "7" "65554101" "65554101" "subst" "0.000121951" "00006" "ASL_000027" "g.65554101A>G" "" "{PMID:Walker 1997:09045711}" "NciI+" "" "sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.66089114A>G" "" "pathogenic" "" "0000175052" "1" "90" "7" "65554101" "65554101" "subst" "0.000121951" "00006" "ASL_000027" "g.65554101A>G" "" "{PMID:Walker 1997:09045711}" "NciI+" "" "" "Germline" "" "" "0" "" "" "g.66089114A>G" "" "pathogenic" "" "0000175053" "0" "90" "7" "65554101" "65554101" "subst" "0.000121951" "00006" "ASL_000027" "g.65554101A>G" "" "{PMID:Sampaleanu 2001:11747432}" "NciI+" "" "" "Germline" "" "" "0" "" "" "g.66089114A>G" "" "pathogenic" "" "0000175054" "1" "90" "7" "65554133" "65554133" "subst" "0" "00006" "ASL_000028" "g.65554133C>T" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66089146C>T" "" "pathogenic" "" "0000175055" "1" "90" "7" "65554269" "65554269" "subst" "0" "00006" "ASL_000030" "g.65554269G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66089282G>A" "" "pathogenic" "" "0000175056" "2" "90" "7" "65554269" "65554269" "subst" "0" "00006" "ASL_000030" "g.65554269G>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66089282G>A" "" "pathogenic" "" "0000175057" "2" "90" "7" "65554665" "65554677" "del" "0" "00006" "ASL_000031" "g.65554665_65554677del" "" "{PMID:Barbosa 1991:01705937}" "" "1044del13" "" "Germline" "" "" "0" "" "" "g.66089678_66089690del" "" "pathogenic" "" "0000175058" "2" "90" "7" "65554665" "65554677" "del" "0" "00006" "ASL_000031" "g.65554665_65554677del" "" "{PMID:Walker 1997:09045711}" "" "1044del13" "" "Germline" "" "" "0" "" "" "g.66089678_66089690del" "" "pathogenic" "" "0000175059" "1" "90" "7" "65557052" "65557052" "dup" "0" "00006" "ASL_000032" "g.65557052dup" "" "{PMID:Stadler 2001:11486903}" "" "1121insC" "" "Germline" "" "" "0" "" "" "g.66092065dup" "" "pathogenic" "" "0000175060" "2" "90" "7" "65557052" "65557052" "dup" "0" "00006" "ASL_000032" "g.65557052dup" "" "{PMID:Stadler 2001:11486903}" "" "1121insC" "" "Germline" "" "" "0" "" "" "g.66092065dup" "" "pathogenic" "" "0000175061" "1" "90" "7" "65557065" "65557065" "subst" "0.0000614341" "00006" "ASL_000033" "g.65557065C>T" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0006}" "" "" "enzyme activity 21 %" "Germline" "" "" "0" "" "" "g.66092078C>T" "" "pathogenic" "" "0000175062" "2" "90" "7" "65557065" "65557065" "subst" "0.0000614341" "00006" "ASL_000033" "g.65557065C>T" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0006}" "" "" "enzyme activity 21 %" "Germline" "" "" "0" "" "" "g.66092078C>T" "" "pathogenic" "" "0000175063" "1" "90" "7" "65557553" "65557553" "subst" "0.0000822551" "00006" "ASL_000033" "g.65557553C>T" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0004}" "" "" "enzyme activity 7 %" "Germline" "" "" "0" "" "" "g.66092566C>T" "" "pathogenic" "" "0000175064" "2" "90" "7" "65557553" "65557553" "subst" "0.0000822551" "00006" "ASL_000033" "g.65557553C>T" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0004}" "" "" "enzyme activity 7 %" "Germline" "" "" "0" "" "" "g.66092566C>T" "" "pathogenic" "" "0000175065" "1" "90" "7" "65557553" "65557553" "subst" "0.0000822551" "00006" "ASL_000033" "g.65557553C>T" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0004}" "" "" "enzyme activity 12 %" "Germline" "" "" "0" "" "" "g.66092566C>T" "" "pathogenic" "" "0000175066" "2" "90" "7" "65557553" "65557553" "subst" "0.0000822551" "00006" "ASL_000033" "g.65557553C>T" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0004}" "" "" "enzyme activity 12 %" "Germline" "" "" "0" "" "" "g.66092566C>T" "" "pathogenic" "" "0000175067" "2" "90" "7" "65557593" "65557593" "subst" "0.00000814976" "00006" "ASL_000034" "g.65557593C>A" "" "{PMID:Linnenbank 2002:12384776}" "" "" "enzyme activity below 2%" "Germline" "" "" "0" "" "" "g.66092606C>A" "" "pathogenic" "" "0000175068" "2" "90" "7" "65557593" "65557593" "subst" "0.00000814976" "00006" "ASL_000034" "g.65557593C>A" "" "{PMID:Walker 1997:09045711}" "HaeIII-" "" "" "Germline" "" "" "0" "" "" "g.66092606C>A" "" "pathogenic" "" "0000175069" "1" "90" "7" "65557779" "65557779" "subst" "0.0000081369" "00006" "ASL_000035" "g.65557779C>T" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}" "" "" "enzyme activity 21 %" "Germline" "" "" "0" "" "" "g.66092792C>T" "" "pathogenic" "" "0000175070" "2" "90" "7" "65557779" "65557779" "subst" "0.0000081369" "00006" "ASL_000035" "g.65557779C>T" "" "{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}" "" "" "enzyme activity 21 %" "Germline" "" "" "0" "" "" "g.66092792C>T" "" "pathogenic" "" "0000175071" "2" "90" "7" "65557835" "65557835" "subst" "0.00000408113" "00006" "ASL_000036" "g.65557835C>T" "" "{PMID:Linnenbank 2002:12384776}" "" "" "" "Germline" "" "" "0" "" "" "g.66092848C>T" "" "pathogenic" "" "0000175072" "1" "90" "7" "65557864" "65557864" "subst" "0" "00006" "ASL_000037" "g.65557864C>T" "" "{PMID:Barbosa 1991:01705937}" "ScrfI-" "" "" "Germline" "" "" "0" "" "" "g.66092877C>T" "" "pathogenic" "" "0000175073" "2" "90" "7" "65557864" "65557864" "subst" "0" "00006" "ASL_000037" "g.65557864C>T" "" "{PMID:Barbosa 1991:01705937}" "ScrfI-" "" "" "Germline" "" "" "0" "" "" "g.66092877C>T" "" "pathogenic" "" "0000246615" "0" "10" "7" "65552792" "65552792" "subst" "0.0226416" "02330" "ASL_000003" "g.65552792A>T" "" "" "" "ASL(NM_001024943.2):c.718+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66087805A>T" "" "benign" "" "0000258374" "0" "10" "7" "65554698" "65554698" "subst" "0.00619684" "02330" "ASL_000039" "g.65554698C>G" "" "" "" "ASL(NM_001024943.2):c.1062+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66089711C>G" "" "benign" "" "0000258375" "0" "10" "7" "65557564" "65557564" "subst" "0.0218625" "02330" "ASL_000005" "g.65557564C>T" "" "" "" "ASL(NM_001024943.2):c.1164C>T (p.H388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66092577C>T" "" "benign" "" "0000258376" "0" "90" "7" "65546812" "65546812" "subst" "0.00118395" "02330" "ASL_000009" "g.65546812G>A" "" "" "" "ASL(NM_001024943.2):c.35G>A (p.R12Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66081825G>A" "" "pathogenic" "" "0000258377" "0" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "02330" "ASL_000018" "g.65548162G>A" "" "" "" "ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000258378" "0" "90" "7" "65551738" "65551738" "subst" "0.00030874" "02330" "ASL_000021" "g.65551738G>A" "" "" "" "ASL(NM_001024943.2):c.532G>A (p.V178M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66086751G>A" "" "pathogenic" "" "0000258379" "0" "10" "7" "65551821" "65551821" "subst" "0.051458" "02330" "ASL_000002" "g.65551821C>T" "" "" "" "ASL(NM_001024943.2):c.602+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66086834C>T" "" "benign" "" "0000261123" "0" "90" "7" "65546812" "65546812" "subst" "0.00118395" "02326" "ASL_000009" "g.65546812G>A" "" "" "" "ASL(NM_001024943.2):c.35G>A (p.R12Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66081825G>A" "" "pathogenic" "" "0000261124" "0" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "02326" "ASL_000018" "g.65548162G>A" "" "" "" "ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66083175G>A" "" "pathogenic" "" "0000342051" "0" "50" "7" "65551627" "65551627" "subst" "0.00000813742" "02327" "ASL_000040" "g.65551627C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66086640C>T" "" "VUS" "" "0000532452" "0" "30" "7" "65547884" "65547884" "subst" "0.000435501" "01943" "ASL_000043" "g.65547884G>A" "" "" "" "ASL(NM_001024943.1):c.309G>A (p.T103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66082897G>A" "" "likely benign" "" "0000532453" "0" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "01943" "ASL_000018" "g.65548162G>A" "" "" "" "ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66083175G>A" "" "pathogenic" "" "0000532454" "0" "90" "7" "65551571" "65551571" "subst" "0.00000814127" "02325" "ASL_000044" "g.65551571G>A" "" "" "" "ASL(NM_001024943.2):c.447-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66086584G>A" "" "pathogenic" "" "0000532455" "0" "90" "7" "65551738" "65551738" "subst" "0.00030874" "02325" "ASL_000021" "g.65551738G>A" "" "" "" "ASL(NM_001024943.2):c.532G>A (p.V178M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66086751G>A" "" "pathogenic" "" "0000532456" "0" "10" "7" "65551762" "65551762" "subst" "0.00110848" "01943" "ASL_000001" "g.65551762C>A" "" "" "" "ASL(NM_001024943.1):c.556C>A (p.R186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66086775C>A" "" "benign" "" "0000532457" "0" "30" "7" "65552792" "65552792" "subst" "0.0226416" "02327" "ASL_000003" "g.65552792A>T" "" "" "" "ASL(NM_001024943.2):c.718+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66087805A>T" "" "likely benign" "" "0000532460" "0" "30" "7" "65557564" "65557564" "subst" "0.0218625" "02327" "ASL_000005" "g.65557564C>T" "" "" "" "ASL(NM_001024943.2):c.1164C>T (p.H388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66092577C>T" "" "likely benign" "" "0000578170" "3" "90" "7" "65547921" "65547921" "subst" "0" "00006" "ASL_000015" "g.65547921C>T" "" "{PMID:Häberle and Koch 2004:15164414}" "" "Q116X" "" "Germline" "" "" "0" "" "" "g.66082934C>T" "" "pathogenic (recessive)" "" "0000578171" "3" "90" "7" "65553796" "65553796" "subst" "0" "00006" "ASL_000041" "g.65553796G>A" "" "{PMID:Häberle and Koch 2004:15164414}" "" "E241K" "" "Germline" "" "" "0" "" "" "g.66088809G>A" "" "pathogenic (recessive)" "" "0000611172" "0" "30" "7" "65554081" "65554081" "subst" "0.0000406607" "01943" "ASL_000047" "g.65554081G>C" "" "" "" "ASL(NM_001024943.1):c.837G>C (p.T279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66089094G>C" "" "likely benign" "" "0000652344" "1" "90" "7" "65551738" "65551738" "subst" "0.00030874" "03575" "ASL_000021" "g.65551738G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28941473}" "Germline" "" "rs28941473" "0" "" "" "g.66086751G>A" "" "pathogenic" "" "0000652345" "1" "90" "7" "65554101" "65554101" "subst" "0.000121951" "03575" "ASL_000008" "g.65554101A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs28941472}" "Germline" "" "rs28941472" "0" "" "" "g.66089114A>G" "" "pathogenic" "" "0000652346" "1" "50" "7" "65557801" "65557801" "subst" "0" "03575" "ASL_000048" "g.65557801A>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796051928}" "Germline" "" "rs796051928" "0" "" "" "g.66092814A>C" "" "VUS" "" "0000653427" "0" "50" "7" "65552748" "65552748" "subst" "0.0000203094" "01164" "ASL_000049" "g.65552748A>G" "" "" "" "" "" "Germline" "" "rs143957662" "0" "" "" "g.66087761A>G" "" "VUS" "ACMG" "0000655868" "0" "90" "7" "65548162" "65548162" "subst" "0.0000490292" "02327" "ASL_000018" "g.65548162G>A" "" "" "" "ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66083175G>A" "" "pathogenic" "" "0000655869" "0" "70" "7" "65551738" "65551738" "subst" "0.00030874" "02327" "ASL_000021" "g.65551738G>A" "" "" "" "ASL(NM_001024943.2):c.532G>A (p.V178M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66086751G>A" "" "likely pathogenic" "" "0000678151" "0" "50" "7" "65546907" "65546907" "subst" "0" "02327" "ASL_000050" "g.65546907G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721520" "0" "50" "7" "65548151" "65548151" "subst" "0.0000163179" "01943" "ASL_000051" "g.65548151C>T" "" "" "" "ASL(NM_001024943.1):c.436C>T (p.R146W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803220" "0" "50" "7" "65546814" "65546814" "subst" "0.00000406802" "01943" "ASL_000052" "g.65546814T>C" "" "" "" "ASL(NM_001024943.1):c.37T>C (p.F13L)" "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 ASL ## Count = 128 "{{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}}" "0000130134" "00002982" "90" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Gln354*)" "" "0000174976" "00002982" "10" "556" "0" "556" "0" "c.556C>A" "r.(?)" "p.(=)" "8" "0000174977" "00002982" "10" "602" "13" "602" "13" "c.602+13C>T" "r.(?)" "p.(=)" "8i" "0000174978" "00002982" "10" "602" "13" "602" "13" "c.602+13C>T" "r.(?)" "p.(=)" "8i" "0000174979" "00002982" "10" "718" "14" "718" "14" "c.718+14A>T" "r.(?)" "p.(=)" "10i" "0000174980" "00002982" "10" "921" "0" "921" "0" "c.921T>C" "r.921u>c" "p.=" "13" "0000174981" "00002982" "10" "921" "0" "921" "0" "c.921T>C" "r.921u>c" "p.=" "13" "0000174982" "00002982" "10" "978" "30" "978" "30" "c.978+30C>T" "r.(?)" "p.(=)" "13i" "0000174983" "00002982" "10" "978" "30" "978" "30" "c.978+30C>T" "r.(?)" "p.(=)" "13i" "0000174984" "00002982" "10" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(=)" "16" "0000174985" "00002982" "10" "1251" "-47" "1251" "-47" "c.1251-47G>A" "r.(?)" "p.(=)" "16i" "0000174986" "00002982" "10" "1251" "-47" "1251" "-47" "c.1251-47G>A" "r.(?)" "p.(=)" "16i" "0000174987" "00002982" "50" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Cys)" "4" "0000174988" "00002982" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "8" "0000174989" "00002982" "50" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(Gln286Arg)" "12" "0000174990" "00002982" "50" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379Cys)" "15" "0000174991" "00002982" "50" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Cys)" "16" "0000174992" "00002982" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1_17" "0000174993" "00002982" "90" "35" "0" "35" "0" "c.35G>A" "r.35g>a" "p.Arg12Gln" "3" "0000174994" "00002982" "90" "175" "0" "175" "0" "c.175G>A" "r.175g>a" "p.Glu59Lys" "3" "0000174995" "00002982" "90" "175" "0" "175" "0" "c.175G>A" "r.175g>a" "p.Glu59Lys" "3" "0000174996" "00002982" "90" "257" "0" "257" "0" "c.257A>C" "r.257a>c" "p.Glu86Ala" "4" "0000174997" "00002982" "90" "260" "0" "260" "0" "c.260A>G" "r.260a>g" "p.Asp87Gly" "4" "0000174998" "00002982" "90" "260" "0" "260" "0" "c.260A>G" "r.260a>g" "p.Asp87Gly" "4" "0000174999" "00002982" "90" "260" "0" "260" "0" "c.260A>G" "r.260a>g" "p.Asp87Gly" "4" "0000175000" "00002982" "90" "260" "0" "260" "0" "c.260A>G" "r.260a>g" "p.Asp87Gly" "4" "0000175001" "00002982" "90" "283" "0" "283" "0" "c.283C>T" "r.283c>u" "p.Arg95Cys" "4" "0000175002" "00002982" "90" "283" "0" "283" "0" "c.283C>T" "r.283c>u" "p.Arg95Cys" "4" "0000175003" "00002982" "90" "292" "0" "292" "0" "c.292del" "r.[292_348del, 29del]" "p.[del19, fs*]" "5" "0000175004" "00002982" "90" "299" "0" "299" "0" "c.299T>C" "r.299del" "p.Ile100Thr" "5" "0000175005" "00002982" "90" "331" "0" "331" "0" "c.331C>T" "r.331c>u" "p.Arg111Trp" "5" "0000175006" "00002982" "90" "331" "0" "331" "0" "c.331C>T" "r.331c>u" "p.Arg111Trp" "5" "0000175007" "00002982" "90" "337" "0" "337" "0" "c.337C>T" "r.337c>u" "p.Arg113Trp" "5" "0000175008" "00002982" "90" "346" "0" "346" "0" "c.346C>T" "r.292_348del" "p.[Gln116*, del]" "5" "0000175009" "00002982" "90" "346" "0" "346" "0" "c.346C>T" "r.292_348del" "p.[Gln116*, del]" "5" "0000175010" "00002982" "90" "346" "0" "346" "0" "c.346C>T" "r.292_348del" "p.[Gln116*, del]" "5" "0000175011" "00002982" "90" "346" "0" "346" "0" "c.346C>T" "r.292_348del" "p.[Gln116*, del]" "5" "0000175012" "00002982" "90" "346" "0" "346" "0" "c.346C>T" "r.292_348del" "p.[Gln116*, del]" "5" "0000175013" "00002982" "90" "346" "0" "346" "0" "c.346C>T" "r.292_348del" "p.[Gln116*, del]" "5" "0000175014" "00002982" "90" "392" "0" "392" "0" "c.392C>T" "r.392c>u" "p.Thr131Met" "6" "0000175015" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175016" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175017" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175018" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175019" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175020" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175021" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175022" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175023" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175024" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175025" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175026" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175027" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175028" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175029" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.349_446del" "p.del21" "6i" "0000175030" "00002982" "90" "461" "0" "461" "0" "c.461T>C" "r.461u>c" "p.Leu154Pro" "7" "0000175031" "00002982" "90" "476" "0" "476" "0" "c.476C>A" "r.476c>a" "p.Thr159Asn" "7" "0000175032" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.532g>a" "p.Val178Met" "8" "0000175033" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.532g>a" "p.Val178Met" "8" "0000175034" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.532g>a" "p.Val178Met" "8" "0000175035" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.532g>a" "p.Val178Met" "8" "0000175036" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.532g>a" "p.Val178Met" "8" "0000175037" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.532g>a" "p.Val178Met" "8" "0000175038" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.532g>a" "p.Val178Met" "8" "0000175039" "00002982" "90" "545" "0" "545" "0" "c.545G>A" "r.545g>a" "p.Arg182Gln" "8" "0000175040" "00002982" "90" "575" "0" "580" "0" "c.575_580dup" "r.575_580dup" "p.ins2" "8" "0000175041" "00002982" "90" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.Arg193Gln" "8" "0000175042" "00002982" "90" "578" "0" "578" "0" "c.578G>A" "r.578g>a" "p.Arg193Gln" "8" "0000175043" "00002982" "90" "718" "5" "718" "5" "c.718+5G>A" "r.656_718del" "p.del19" "10i" "0000175044" "00002982" "90" "718" "5" "718" "5" "c.718+5G>A" "r.656_718del" "p.del19" "10i" "0000175045" "00002982" "90" "762" "0" "762" "0" "c.762C>A" "r.(?)" "p.Ser254Arg" "11" "0000175046" "00002982" "90" "857" "0" "857" "0" "c.857A>G" "r.857a>g" "p.Gln286Arg" "12" "0000175047" "00002982" "90" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(Gln286Arg)" "12" "0000175048" "00002982" "90" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(Gln286Arg)" "12" "0000175049" "00002982" "90" "857" "0" "857" "0" "c.857A>G" "r.857a>g" "p.Gln286Arg" "12" "0000175050" "00002982" "90" "857" "0" "857" "0" "c.857A>G" "r.857a>g" "p.Gln286Arg" "12" "0000175051" "00002982" "90" "857" "0" "857" "0" "c.857A>G" "r.857a>g" "p.Gln286Arg" "12" "0000175052" "00002982" "90" "857" "0" "857" "0" "c.857A>G" "r.857a>g" "p.Gln286Arg" "12" "0000175053" "00002982" "90" "857" "0" "857" "0" "c.857A>G" "r.857a>g" "p.Gln286Arg" "12" "0000175054" "00002982" "90" "889" "0" "889" "0" "c.889C>T" "r.889c>u" "p.Arg297Trp" "12" "0000175055" "00002982" "90" "925" "0" "925" "0" "c.925G>A" "r.925g>a" "p.Gly309Arg" "13" "0000175056" "00002982" "90" "925" "0" "925" "0" "c.925G>A" "r.925g>a" "p.Gly309Arg" "13" "0000175057" "00002982" "90" "1045" "0" "1057" "0" "c.1045_1057del" "r.[979_1062del, 1045_1057del]" "p.[del28, fs*]" "14" "0000175058" "00002982" "90" "1045" "0" "1057" "0" "c.1045_1057del" "r.979_1062del" "p.(del28)" "14" "0000175059" "00002982" "90" "1122" "0" "1122" "0" "c.1122dup" "r.1122dup" "p.(Tyr375LeufsTer99)" "15" "0000175060" "00002982" "90" "1122" "0" "1122" "0" "c.1122dup" "r.1122dup" "p.(Tyr375LeufsTer99)" "15" "0000175061" "00002982" "90" "1135" "0" "1135" "0" "c.1135C>T" "r.1135c>u" "p.Arg379Cys" "15" "0000175062" "00002982" "90" "1135" "0" "1135" "0" "c.1135C>T" "r.1135c>u" "p.Arg379Cys" "15" "0000175063" "00002982" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.1153c>u" "p.Arg385Cys" "16" "0000175064" "00002982" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.1153c>u" "p.Arg385Cys" "16" "0000175065" "00002982" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.1153c>u" "p.Arg385Cys" "16" "0000175066" "00002982" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.1153c>u" "p.Arg385Cys" "16" "0000175067" "00002982" "90" "1193" "0" "1193" "0" "c.1193C>A" "r.1193c>a" "p.Ala398Asp" "16" "0000175068" "00002982" "90" "1193" "0" "1193" "0" "c.1193C>A" "r.1193c>a" "p.Ala398Asp" "16" "0000175069" "00002982" "90" "1275" "0" "1275" "0" "c.1275C>T" "r.1275c>u" "p.=" "17" "0000175070" "00002982" "90" "1275" "0" "1275" "0" "c.1275C>T" "r.1275c>u" "p.=" "17" "0000175071" "00002982" "90" "1331" "0" "1331" "0" "c.1331C>T" "r.1331c>u" "p.Ala444Val" "17" "0000175072" "00002982" "90" "1360" "0" "1360" "0" "c.1360C>T" "r.1360c>u" "p.Gln454*" "17" "0000175073" "00002982" "90" "1360" "0" "1360" "0" "c.1360C>T" "r.1360c>u" "p.Gln454*" "17" "0000246615" "00002982" "10" "718" "14" "718" "14" "c.718+14A>T" "r.(=)" "p.(=)" "" "0000258374" "00002982" "10" "1062" "16" "1062" "16" "c.1062+16C>G" "r.(=)" "p.(=)" "" "0000258375" "00002982" "10" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(His388=)" "" "0000258376" "00002982" "90" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Arg12Gln)" "" "0000258377" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.spl?" "p.?" "" "0000258378" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "" "0000258379" "00002982" "10" "602" "13" "602" "13" "c.602+13C>T" "r.(=)" "p.(=)" "" "0000261123" "00002982" "90" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Arg12Gln)" "" "0000261124" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.spl?" "p.?" "" "0000342051" "00002982" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000532452" "00002982" "30" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Thr103=)" "" "0000532453" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.spl?" "p.?" "" "0000532454" "00002982" "90" "447" "-1" "447" "-1" "c.447-1G>A" "r.spl?" "p.?" "" "0000532455" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "" "0000532456" "00002982" "10" "556" "0" "556" "0" "c.556C>A" "r.(?)" "p.(Arg186=)" "" "0000532457" "00002982" "30" "718" "14" "718" "14" "c.718+14A>T" "r.(=)" "p.(=)" "" "0000532460" "00002982" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(His388=)" "" "0000578170" "00002982" "90" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Gln116*)" "" "0000578171" "00002982" "90" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Glu241Lys)" "" "0000611172" "00002982" "30" "837" "0" "837" "0" "c.837G>C" "r.(?)" "p.(Thr279=)" "" "0000652344" "00002982" "90" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "" "0000652345" "00002982" "90" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(Gln286Arg)" "" "0000652346" "00002982" "50" "1297" "0" "1297" "0" "c.1297A>C" "r.(?)" "p.(Ser433Arg)" "" "0000653427" "00002982" "50" "688" "0" "688" "0" "c.688A>G" "r.(?)" "p.(Met230Val)" "" "0000655868" "00002982" "90" "446" "1" "446" "1" "c.446+1G>A" "r.spl?" "p.?" "" "0000655869" "00002982" "70" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "" "0000678151" "00002982" "50" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Ala44Thr)" "" "0000721520" "00002982" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146Trp)" "" "0000803220" "00002982" "50" "37" "0" "37" "0" "c.37T>C" "r.(?)" "p.(Phe13Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 103 "{{screeningid}}" "{{variantid}}" "0000081048" "0000130134" "0000108955" "0000174992" "0000108955" "0000175049" "0000108956" "0000174994" "0000108956" "0000174995" "0000108957" "0000174996" "0000108957" "0000175007" "0000108958" "0000174997" "0000108958" "0000175067" "0000108959" "0000174998" "0000108959" "0000174999" "0000108960" "0000175000" "0000108960" "0000175068" "0000108961" "0000175001" "0000108961" "0000175002" "0000108962" "0000174987" "0000108963" "0000175003" "0000108963" "0000175018" "0000108964" "0000175004" "0000108964" "0000175029" "0000108965" "0000175005" "0000108965" "0000175006" "0000108966" "0000175008" "0000108966" "0000175009" "0000108967" "0000175010" "0000108967" "0000175011" "0000108968" "0000175012" "0000108968" "0000175013" "0000108969" "0000175014" "0000108969" "0000175054" "0000108970" "0000175015" "0000108970" "0000175039" "0000108971" "0000175016" "0000108971" "0000175032" "0000108972" "0000175017" "0000108972" "0000175040" "0000108973" "0000175019" "0000108973" "0000175033" "0000108974" "0000175020" "0000108974" "0000175021" "0000108975" "0000175022" "0000108975" "0000175034" "0000108976" "0000175023" "0000108976" "0000175031" "0000108977" "0000175024" "0000108977" "0000175025" "0000108978" "0000175026" "0000108978" "0000175045" "0000108979" "0000175027" "0000108979" "0000175035" "0000108980" "0000175028" "0000108980" "0000175038" "0000108981" "0000175030" "0000108981" "0000175071" "0000108982" "0000175036" "0000108982" "0000175037" "0000108983" "0000174988" "0000108984" "0000174976" "0000108985" "0000175041" "0000108985" "0000175046" "0000108986" "0000175042" "0000108986" "0000175057" "0000108987" "0000174977" "0000108988" "0000174978" "0000108989" "0000175043" "0000108989" "0000175044" "0000108990" "0000174979" "0000108991" "0000175047" "0000108991" "0000175048" "0000108992" "0000175050" "0000108992" "0000175051" "0000108993" "0000175052" "0000108993" "0000175058" "0000108994" "0000174989" "0000108995" "0000174980" "0000108995" "0000174981" "0000108996" "0000175055" "0000108996" "0000175056" "0000108997" "0000174982" "0000108998" "0000174983" "0000108999" "0000175059" "0000108999" "0000175060" "0000109000" "0000175061" "0000109000" "0000175062" "0000109001" "0000174990" "0000109002" "0000175063" "0000109002" "0000175064" "0000109003" "0000175065" "0000109003" "0000175066" "0000109004" "0000174991" "0000109005" "0000174984" "0000109006" "0000174985" "0000109007" "0000174986" "0000109008" "0000175069" "0000109008" "0000175070" "0000109009" "0000175072" "0000109009" "0000175073" "0000249398" "0000578170" "0000249399" "0000578171" "0000295655" "0000652344" "0000295656" "0000652345" "0000295657" "0000652346" "0000296729" "0000653427"