### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACADS) # 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}}" "ACADS" "acyl-CoA dehydrogenase, C-2 to C-3 short chain" "12" "q24.31" "unknown" "NG_007991.1" "UD_132118467809" "" "https://www.LOVD.nl/ACADS" "" "1" "90" "35" "606885" "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/ACADS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-11 16:47:45" "00000" "2025-05-05 21:14:00" ## 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}}" "00001941" "ACADS" "acyl-CoA dehydrogenase, C-2 to C-3 short chain" "001" "NM_000017.2" "" "NP_000008.1" "" "" "" "-118" "1799" "1239" "121163571" "121177811" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01625" "ACADSD" "Acyl-CoA dehydrogenase, short-chain, deficiency of" "AR" "201470" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACADS" "01625" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00103749" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "F" "" "Switzerland" "05y" "0" "" "" "Africa" "SUDS051" "00181027" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181052" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00290611" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290613" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290614" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290615" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290616" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290617" "" "" "" "73" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290618" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290619" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290620" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304331" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314020" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00315501" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "M" "" "Switzerland" "19y" "" "" "" "Europe" "SUDS080" "00324657" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "M" "" "Switzerland" "33y" "" "" "" "Europe" "SUDS038" "00374641" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5811" "00438394" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat113" "00452168" "" "" "" "12" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452169" "" "" "" "5" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452170" "" "" "" "3" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452171" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452172" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452173" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452174" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452175" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452176" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00453597" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat13" "00453598" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat14" "00453599" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat15" "00453600" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat16" "00453601" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat17" "00453681" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat97" "00457571" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00103749" "05166" "00181027" "01625" "00181052" "01625" "00290611" "00198" "00290613" "00198" "00290614" "00198" "00290615" "00198" "00290616" "00198" "00290617" "00198" "00290618" "00198" "00290619" "00198" "00290620" "00198" "00304331" "00198" "00314020" "00198" "00315501" "05166" "00324657" "05166" "00374641" "00198" "00438394" "04270" "00452168" "00198" "00452169" "00198" "00452170" "00198" "00452171" "00198" "00452172" "00198" "00452173" "00198" "00452174" "00198" "00452175" "00198" "00452176" "00198" "00453597" "02554" "00453598" "02554" "00453599" "02554" "00453600" "02554" "00453601" "02554" "00453681" "02554" "00457571" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01625, 02554, 04270, 05166 ## Count = 24 "{{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}}" "0000081685" "05166" "00103749" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000143305" "01625" "00181052" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143394" "01625" "00181027" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238317" "00198" "00314020" "02551" "Unknown" "" "Ethylmalonic aciduria (HP:0003219)" "" "" "" "" "" "" "" "" "" "" "" "0000269851" "00198" "00374641" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000322111" "05166" "00315501" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000322114" "05166" "00324657" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000328298" "04270" "00438394" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0001281 tetany; HP:0032245 abnormal metabolism; HP:0002917 hypomagnesemia; HP:0002148 hypophosphatemia; HP:0001396 cholestasis; HP:0002902 hyponatremia; HP:0001903 anemia; HP:0001942 metabolic acidosis" "24d" "" "" "" "" "" "" "" "" "epilepsy" "" "0000340771" "00198" "00452168" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADSD" "short chain acyl-coa dehydrogenase deficiency" "" "0000340772" "00198" "00452169" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADSD" "short chain acyl-coa dehydrogenase deficiency" "" "0000340773" "00198" "00452170" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADSD" "short chain acyl-coa dehydrogenase deficiency" "" "0000340774" "00198" "00452171" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADSD" "short chain acyl-coa dehydrogenase deficiency" "" "0000340775" "00198" "00452172" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADSD" "short chain acyl-coa dehydrogenase deficiency" "" "0000340776" "00198" "00452173" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADSD" "short chain acyl-coa dehydrogenase deficiency" "" "0000340777" "00198" "00452174" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADSD" "short chain acyl-coa dehydrogenase deficiency" "" "0000340778" "00198" "00452175" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADSD" "short chain acyl-coa dehydrogenase deficiency" "" "0000340779" "00198" "00452176" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADSD" "short chain acyl-coa dehydrogenase deficiency" "" "0000342254" "02554" "00453597" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADSD" "inborn error of metabolism" "" "0000342255" "02554" "00453598" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADSD" "inborn error of metabolism" "" "0000342256" "02554" "00453599" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADSD" "inborn error of metabolism" "" "0000342257" "02554" "00453600" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADSD" "inborn error of metabolism" "" "0000342258" "02554" "00453601" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADSD" "inborn error of metabolism" "" "0000342338" "02554" "00453681" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000346035" "00198" "00457571" "00006" "Familial, autosomal recessive" "5m" "newborn screening; asymptomatic" "" "4m20d" "" "" "" "" "" "" "ACADSD" "newborn screening" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181975" "00181027" "1" "02568" "02568" "2018-09-21 10:59:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000181999" "00181052" "1" "02568" "02568" "2018-09-21 13:18:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000291779" "00290611" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291781" "00290613" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291782" "00290614" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291783" "00290615" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291784" "00290616" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291785" "00290617" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291786" "00290618" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291787" "00290619" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291788" "00290620" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305460" "00304331" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315193" "00314020" "1" "02551" "02551" "2020-10-12 12:17:01" "" "" "SEQ" "DNA" "" "" "0000316679" "00315501" "1" "01602" "01602" "2020-10-27 16:27:32" "01602" "2023-02-15 09:47:46" "SEQ-NG" "DNA" "" "" "0000325856" "00103749" "1" "01602" "01602" "2020-12-21 14:01:48" "01602" "2023-02-15 09:44:46" "SEQ-NG-I" "DNA" "" "" "0000325865" "00324657" "1" "01602" "01602" "2020-12-21 14:22:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000375835" "00374641" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000439876" "00438394" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453770" "00452168" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453771" "00452169" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453772" "00452170" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453773" "00452171" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453774" "00452172" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453775" "00452173" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453776" "00452174" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453777" "00452175" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453778" "00452176" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455209" "00453597" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455210" "00453598" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455211" "00453599" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455212" "00453600" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455213" "00453601" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455293" "00453681" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000459191" "00457571" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "plasma" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000181975" "ACADS" "0000181999" "ACADS" "0000375835" "ACADS" "0000453770" "ACADS" "0000453771" "ACADS" "0000453772" "ACADS" "0000453773" "ACADS" "0000453774" "ACADS" "0000453775" "ACADS" "0000453776" "ACADS" "0000453777" "ACADS" "0000453778" "ACADS" "0000459191" "ACADS" ## 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 = 62 "{{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}}" "0000258872" "0" "10" "12" "121174899" "121174899" "subst" "0.520789" "02325" "ACADS_000001" "g.121174899T>C" "" "" "" "ACADS(NM_000017.4):c.321T>C (p.R107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120737096T>C" "" "benign" "" "0000258873" "0" "10" "12" "121175984" "121175984" "subst" "0" "02325" "ACADS_000002" "g.121175984T>C" "" "" "" "ACADS(NM_000017.4):c.625-99T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120738181T>C" "" "benign" "" "0000258874" "0" "10" "12" "121176679" "121176679" "subst" "0.538936" "02325" "ACADS_000003" "g.121176679C>T" "" "" "" "ACADS(NM_000017.4):c.990C>T (p.R330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120738876C>T" "" "benign" "" "0000340683" "0" "10" "12" "121176679" "121176679" "subst" "0.538936" "02327" "ACADS_000003" "g.121176679C>T" "" "" "" "ACADS(NM_000017.4):c.990C>T (p.R330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120738876C>T" "" "benign" "" "0000348959" "0" "90" "12" "121176971" "121176971" "subst" "0.000202635" "02327" "ACADS_000004" "g.121176971C>T" "" "" "" "ACADS(NM_000017.4):c.1058C>T (p.S353L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120739168C>T" "" "pathogenic" "" "0000405800" "11" "90" "12" "121174888" "121174890" "del" "0" "02568" "ACADS_000006" "g.121174888_121174890del" "" "" "" "310_312delGAG" "" "Germline" "yes" "" "0" "" "" "g.120737085_120737087del" "" "pathogenic" "" "0000405803" "21" "90" "12" "121177150" "121177150" "subst" "9.44869E-5" "02568" "ACADS_000008" "g.121177150C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.120739347C>T" "" "pathogenic" "" "0000405804" "21" "70" "12" "121175648" "121175648" "subst" "0" "02568" "ACADS_000007" "g.121175648A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.120737845A>C" "" "likely pathogenic" "" "0000405805" "11" "70" "12" "121174883" "121174883" "subst" "0" "02568" "ACADS_000005" "g.121174883T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.120737080T>G" "" "likely pathogenic" "" "0000546823" "0" "30" "12" "121175678" "121175678" "subst" "0.0311738" "02326" "ACADS_000009" "g.121175678C>T" "" "" "" "ACADS(NM_000017.2):c.511C>T (p.(Arg171Trp)), ACADS(NM_000017.3):c.511C>T (p.R171W), ACADS(NM_000017.4):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120737875C>T" "" "likely benign" "" "0000546824" "0" "10" "12" "121176083" "121176083" "subst" "0.265755" "02326" "ACADS_000010" "g.121176083G>A" "" "" "" "ACADS(NM_000017.4):c.625G>A (p.G209S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120738280G>A" "" "benign" "" "0000613908" "0" "70" "12" "121174897" "121174897" "subst" "0.000999384" "02327" "ACADS_000011" "g.121174897C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120737094C>T" "" "likely pathogenic" "" "0000613909" "0" "50" "12" "121175678" "121175678" "subst" "0.0311738" "02327" "ACADS_000009" "g.121175678C>T" "" "" "" "ACADS(NM_000017.2):c.511C>T (p.(Arg171Trp)), ACADS(NM_000017.3):c.511C>T (p.R171W), ACADS(NM_000017.4):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120737875C>T" "" "VUS" "" "0000648468" "1" "70" "12" "121164918" "121164918" "subst" "0.000162422" "03575" "ACADS_000012" "g.121164918C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs121908003}" "Germline" "" "rs121908003" "0" "" "" "g.120727115C>T" "" "likely pathogenic" "" "0000648470" "1" "70" "12" "121176352" "121176352" "subst" "1.23635E-5" "03575" "ACADS_000013" "g.121176352G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796051902}" "Germline" "" "rs796051902" "0" "" "" "g.120738549G>T" "" "likely pathogenic" "" "0000648471" "1" "50" "12" "121176366" "121176366" "subst" "2.05204E-5" "03575" "ACADS_000014" "g.121176366G>A" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199717731}" "Germline" "" "rs199717731" "0" "" "" "g.120738563G>A" "" "VUS" "" "0000648472" "1" "50" "12" "121176662" "121176662" "subst" "2.03287E-5" "03575" "ACADS_000015" "g.121176662C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs121908006}" "Germline" "" "rs121908006" "0" "" "" "g.120738859C>T" "" "VUS" "" "0000648473" "1" "50" "12" "121177117" "121177117" "subst" "2.47027E-5" "03575" "ACADS_000016" "g.121177117G>A" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs145466253}" "Germline" "" "rs145466253" "0" "" "" "g.120739314G>A" "" "VUS" "" "0000648474" "1" "50" "12" "121177120" "121177120" "subst" "0.00187103" "03575" "ACADS_000017" "g.121177120A>G" "73/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "73 heterozygous; {DB:CLININrs566325901}" "Germline" "" "rs566325901" "0" "" "" "g.120739317A>G" "" "VUS" "" "0000648475" "1" "50" "12" "121177142" "121177142" "subst" "6.57841E-5" "03575" "ACADS_000018" "g.121177142C>T" "2/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs183161718}" "Germline" "" "rs183161718" "0" "" "" "g.120739339C>T" "" "VUS" "" "0000648476" "1" "70" "12" "121177150" "121177150" "subst" "9.44869E-5" "03575" "ACADS_000008" "g.121177150C>T" "3/2759 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs28940875}" "Germline" "" "rs28940875" "0" "" "" "g.120739347C>T" "" "likely pathogenic" "" "0000648477" "1" "70" "12" "121177159" "121177159" "subst" "9.86177E-5" "03575" "ACADS_000019" "g.121177159C>T" "1/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28940872}" "Germline" "" "rs28940872" "0" "" "" "g.120739356C>T" "" "likely pathogenic" "" "0000669148" "3" "50" "12" "121177120" "121177120" "subst" "0.00187103" "03575" "ACADS_000017" "g.121177120A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs566325901}" "Germline" "" "rs566325901" "0" "" "" "g.120739317A>G" "" "VUS" "" "0000697282" "0" "70" "12" "121176429" "121176429" "subst" "8.15162E-6" "02551" "ACADS_000020" "g.121176429C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000698841" "0" "50" "12" "121175763" "121175763" "subst" "2.43776E-5" "01602" "ACADS_000021" "g.121175763C>T" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000709010" "0" "70" "12" "121176354" "121176354" "subst" "2.8822E-5" "01602" "ACADS_000023" "g.121176354C>T" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000709019" "0" "70" "12" "121174898" "121174898" "subst" "0" "01602" "ACADS_000022" "g.121174898G>A" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723874" "0" "70" "12" "121164918" "121164918" "subst" "0.000162422" "01943" "ACADS_000012" "g.121164918C>T" "" "" "" "ACADS(NM_000017.3):c.136C>T (p.R46W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000787186" "3" "50" "12" "121176236" "121176236" "subst" "2.05683E-5" "00006" "ACADS_000024" "g.121176236G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs759856061" "0" "" "" "g.120738433G>T" "" "VUS" "" "0000805560" "0" "30" "12" "121164829" "121164829" "subst" "5.68657E-5" "01943" "ACADS_000025" "g.121164829C>T" "" "" "" "ACADS(NM_000017.3):c.47C>T (p.A16V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890314" "0" "10" "12" "121175678" "121175678" "subst" "0.0311738" "01943" "ACADS_000009" "g.121175678C>T" "" "" "" "ACADS(NM_000017.2):c.511C>T (p.(Arg171Trp)), ACADS(NM_000017.3):c.511C>T (p.R171W), ACADS(NM_000017.4):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000936005" "0" "90" "12" "121176083" "121176083" "subst" "0.265755" "00006" "ACADS_000010" "g.121176083G>A" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline" "" "" "0" "" "" "g.120738280G>A" "" "pathogenic" "" "0000966747" "0" "70" "12" "121176971" "121176971" "subst" "0.000202635" "02329" "ACADS_000004" "g.121176971C>T" "" "" "" "ACADS(NM_000017.4):c.1058C>T (p.S353L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980072" "0" "90" "12" "121175696" "121175696" "subst" "0.000463008" "01804" "ACADS_000026" "g.121175696T>C" "" "" "" "ACADS(NM_000017.4):c.529T>C (p.(Trp177Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000988532" "0" "70" "12" "121176944" "121176944" "subst" "9.90459E-5" "00006" "ACADS_000031" "g.121176944A>G" "12/28 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.120739141A>G" "" "likely pathogenic" "" "0000988533" "0" "70" "12" "121164946" "121164946" "subst" "3.6545E-5" "00006" "ACADS_000028" "g.121164946C>T" "5/28 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.120727143C>T" "" "likely pathogenic" "" "0000988534" "0" "50" "12" "121177142" "121177142" "subst" "6.57841E-5" "00006" "ACADS_000018" "g.121177142C>T" "3/28 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.120739339C>T" "" "VUS" "" "0000988535" "0" "70" "12" "121174900" "121174900" "subst" "0" "00006" "ACADS_000029" "g.121174900G>A" "2/28 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.120737097G>A" "" "likely pathogenic" "" "0000988536" "0" "50" "12" "121176195" "121176195" "subst" "0" "00006" "ACADS_000030" "g.121176195G>A" "2/28 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.120738392G>A" "" "VUS" "" "0000988537" "0" "50" "12" "121164859" "121164859" "subst" "0" "00006" "ACADS_000027" "g.121164859A>G" "1/28 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.120727056A>G" "" "VUS" "" "0000988538" "0" "50" "12" "121176662" "121176662" "subst" "2.03287E-5" "00006" "ACADS_000015" "g.121176662C>T" "1/28 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.120738859C>T" "" "VUS" "" "0000988539" "0" "50" "12" "121176967" "121176967" "subst" "2.48055E-5" "00006" "ACADS_000032" "g.121176967G>A" "1/28 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.120739164G>A" "" "VUS" "" "0000988540" "0" "50" "12" "121176968" "121176968" "subst" "0" "00006" "ACADS_000033" "g.121176968C>T" "1/28 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.120739165C>T" "" "VUS" "" "0000999744" "0" "30" "12" "121175678" "121175678" "subst" "0.0311738" "01804" "ACADS_000009" "g.121175678C>T" "" "" "" "ACADS(NM_000017.2):c.511C>T (p.(Arg171Trp)), ACADS(NM_000017.3):c.511C>T (p.R171W), ACADS(NM_000017.4):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999745" "0" "50" "12" "121176105" "121176105" "subst" "0" "01804" "ACADS_000034" "g.121176105C>G" "" "" "" "ACADS(NM_000017.2):c.647C>G (p.(Pro216Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999746" "0" "50" "12" "121176976" "121176976" "subst" "0" "01804" "ACADS_000035" "g.121176976G>A" "" "" "" "ACADS(NM_000017.2):c.1063G>A (p.(Ala355Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007242" "1" "70" "12" "121174888" "121174890" "del" "0" "00006" "ACADS_000006" "g.121174888_121174890del" "" "{PMID:Navarrete 2019:30626930}" "" "310_312delGAG" "" "Germline" "" "" "0" "" "" "g.120737085_120737087del" "" "likely pathogenic" "" "0001007243" "1" "70" "12" "121174888" "121174890" "del" "0" "00006" "ACADS_000006" "g.121174888_121174890del" "" "{PMID:Navarrete 2019:30626930}" "" "310_312delGAG" "" "Germline" "" "" "0" "" "" "g.120737085_120737087del" "" "likely pathogenic" "" "0001007244" "1" "70" "12" "121177150" "121177150" "subst" "9.44869E-5" "00006" "ACADS_000008" "g.121177150C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.120739347C>T" "" "likely pathogenic" "" "0001007245" "1" "70" "12" "121177150" "121177150" "subst" "9.44869E-5" "00006" "ACADS_000008" "g.121177150C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.120739347C>T" "" "likely pathogenic" "" "0001007246" "3" "70" "12" "121177150" "121177150" "subst" "9.44869E-5" "00006" "ACADS_000008" "g.121177150C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.120739347C>T" "" "likely pathogenic" "" "0001007326" "1" "70" "12" "121176083" "121176083" "subst" "0.265755" "00006" "ACADS_000010" "g.121176083G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.120738280G>A" "" "likely pathogenic" "" "0001007369" "2" "70" "12" "121175648" "121175648" "subst" "0" "00006" "ACADS_000007" "g.121175648A>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.120737845A>C" "" "likely pathogenic" "" "0001007370" "2" "70" "12" "121176083" "121176083" "subst" "0.265755" "00006" "ACADS_000010" "g.121176083G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.120738280G>A" "" "likely pathogenic" "" "0001007371" "2" "70" "12" "121176083" "121176083" "subst" "0.265755" "00006" "ACADS_000010" "g.121176083G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.120738280G>A" "" "likely pathogenic" "" "0001007372" "2" "70" "12" "121174883" "121174883" "subst" "0" "00006" "ACADS_000005" "g.121174883T>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.120737080T>G" "" "likely pathogenic" "" "0001017113" "1" "90" "12" "121164946" "121164946" "subst" "3.6545E-5" "00006" "ACADS_000028" "g.121164946C>T" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.120727143C>T" "" "pathogenic (recessive)" "" "0001017131" "2" "90" "12" "121176944" "121176944" "subst" "9.90459E-5" "00006" "ACADS_000031" "g.121176944A>G" "" "{PMID:Kang 2018:29519241}" "" "1041A>G (E344G)" "" "Germline" "" "" "0" "" "" "g.120739141A>G" "" "pathogenic (recessive)" "" "0001029992" "0" "50" "12" "121176429" "121176429" "subst" "8.15162E-6" "03779" "ACADS_000020" "g.121176429C>T" "" "" "" "" "" "Unknown" "" "rs747512252" "0" "" "" "" "" "VUS" "" "0001039000" "0" "50" "12" "121174794" "121174794" "subst" "0" "01804" "ACADS_000036" "g.121174794G>C" "" "" "" "ACADS(NM_000017.4):c.216G>C (p.(Lys72Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039001" "0" "70" "12" "121177124" "121177124" "subst" "0" "01804" "ACADS_000037" "g.121177124G>T" "" "" "" "ACADS(NM_000017.4):c.1112G>T (p.(Gly371Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039002" "0" "50" "12" "121177244" "121177244" "subst" "3.81582E-5" "01804" "ACADS_000038" "g.121177244G>A" "" "" "" "ACADS(NM_000017.4):c.1232G>A (p.(Arg411Gln))" "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 ACADS ## Count = 62 "{{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}}" "0000258872" "00001941" "10" "321" "0" "321" "0" "c.321T>C" "r.(?)" "p.(Arg107=)" "" "0000258873" "00001941" "10" "625" "-99" "625" "-99" "c.625-99T>C" "r.(=)" "p.(=)" "" "0000258874" "00001941" "10" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Arg330=)" "" "0000340683" "00001941" "10" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Arg330=)" "" "0000348959" "00001941" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ser353Leu)" "" "0000405800" "00001941" "90" "310" "0" "312" "0" "c.310_312del" "r.(?)" "p.(Glu104del)" "" "0000405803" "00001941" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Trp)" "" "0000405804" "00001941" "70" "481" "0" "481" "0" "c.481A>C" "r.(?)" "p.(Ser161Arg)" "" "0000405805" "00001941" "70" "305" "0" "305" "0" "c.305T>G" "r.(?)" "p.(Met102Arg)" "" "0000546823" "00001941" "30" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0000546824" "00001941" "10" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Gly209Ser)" "" "0000613908" "00001941" "70" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Cys)" "" "0000613909" "00001941" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0000648468" "00001941" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Trp)" "" "0000648470" "00001941" "70" "812" "0" "812" "0" "c.812G>T" "r.(?)" "p.(Gly271Val)" "" "0000648471" "00001941" "50" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Ala276Thr)" "" "0000648472" "00001941" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Trp)" "" "0000648473" "00001941" "50" "1105" "0" "1105" "0" "c.1105G>A" "r.(?)" "p.(Gly369Ser)" "" "0000648474" "00001941" "50" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Met370Val)" "" "0000648475" "00001941" "50" "1130" "0" "1130" "0" "c.1130C>T" "r.(?)" "p.(Pro377Leu)" "" "0000648476" "00001941" "70" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Trp)" "" "0000648477" "00001941" "70" "1147" "0" "1147" "0" "c.1147C>T" "r.(?)" "p.(Arg383Cys)" "" "0000669148" "00001941" "50" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Met370Val)" "" "0000697282" "00001941" "70" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297Cys)" "" "0000698841" "00001941" "50" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ala199Val)" "" "0000709010" "00001941" "70" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000709019" "00001941" "70" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107His)" "" "0000723874" "00001941" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Trp)" "" "0000787186" "00001941" "50" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Gly260Cys)" "6" "0000805560" "00001941" "30" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Ala16Val)" "" "0000890314" "00001941" "10" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0000936005" "00001941" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Gly209Ser)" "" "0000966747" "00001941" "70" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ser353Leu)" "" "0000980072" "00001941" "90" "529" "0" "529" "0" "c.529T>C" "r.(?)" "p.(Trp177Arg)" "" "0000988532" "00001941" "70" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Glu344Gly)" "" "0000988533" "00001941" "70" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Pro55Leu)" "" "0000988534" "00001941" "50" "1130" "0" "1130" "0" "c.1130C>T" "r.(?)" "p.(Pro377Leu)" "" "0000988535" "00001941" "70" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Gly108Ser)" "" "0000988536" "00001941" "50" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Cys246Tyr)" "" "0000988537" "00001941" "50" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(His26Arg)" "" "0000988538" "00001941" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Trp)" "" "0000988539" "00001941" "50" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Ala352Thr)" "" "0000988540" "00001941" "50" "1055" "0" "1055" "0" "c.1055C>T" "r.(?)" "p.(Ala352Val)" "" "0000999744" "00001941" "30" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0000999745" "00001941" "50" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Pro216Arg)" "" "0000999746" "00001941" "50" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Ala355Thr)" "" "0001007242" "00001941" "70" "310" "0" "312" "0" "c.310_312del" "r.(?)" "p.(Glu104del)" "" "0001007243" "00001941" "70" "310" "0" "312" "0" "c.310_312del" "r.(?)" "p.(Glu104del)" "" "0001007244" "00001941" "70" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Trp)" "" "0001007245" "00001941" "70" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Trp)" "" "0001007246" "00001941" "70" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Trp)" "" "0001007326" "00001941" "70" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Gly209Ser)" "" "0001007369" "00001941" "70" "481" "0" "481" "0" "c.481A>C" "r.(?)" "p.(Ser161Arg)" "5" "0001007370" "00001941" "70" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Gly209Ser)" "" "0001007371" "00001941" "70" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Gly209Ser)" "" "0001007372" "00001941" "70" "305" "0" "305" "0" "c.305T>G" "r.(?)" "p.(Met102Arg)" "3" "0001017113" "00001941" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Pro55Leu)" "" "0001017131" "00001941" "90" "1041" "0" "1041" "0" "c.1041A>G" "r.(?)" "p.(Glu344Gly)" "" "0001029992" "00001941" "50" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297Cys)" "" "0001039000" "00001941" "50" "216" "0" "216" "0" "c.216G>C" "r.(?)" "p.(Lys72Asn)" "" "0001039001" "00001941" "70" "1112" "0" "1112" "0" "c.1112G>T" "r.(?)" "p.(Gly371Val)" "" "0001039002" "00001941" "50" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000181975" "0000405800" "0000181975" "0000405804" "0000181999" "0000405803" "0000181999" "0000405805" "0000291779" "0000648468" "0000291781" "0000648470" "0000291782" "0000648471" "0000291783" "0000648472" "0000291784" "0000648473" "0000291785" "0000648474" "0000291786" "0000648475" "0000291787" "0000648476" "0000291788" "0000648477" "0000305460" "0000669148" "0000315193" "0000697282" "0000316679" "0000698841" "0000325856" "0000709010" "0000325865" "0000709019" "0000375835" "0000787186" "0000439876" "0000936005" "0000453770" "0000988532" "0000453771" "0000988533" "0000453772" "0000988534" "0000453773" "0000988535" "0000453774" "0000988536" "0000453775" "0000988537" "0000453776" "0000988538" "0000453777" "0000988539" "0000453778" "0000988540" "0000455209" "0001007242" "0000455209" "0001007369" "0000455210" "0001007243" "0000455210" "0001007370" "0000455211" "0001007244" "0000455211" "0001007371" "0000455212" "0001007245" "0000455212" "0001007372" "0000455213" "0001007246" "0000455293" "0001007326" "0000459191" "0001017113" "0000459191" "0001017131"