### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACADM) # 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}}" "ACADM" "acyl-CoA dehydrogenase, C-4 to C-12 straight chain" "1" "p31" "unknown" "LRG_838" "UD_132085328077" "" "https://www.LOVD.nl/ACADM" "" "1" "89" "34" "607008" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ACADM_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2018-10-12 10:34:05" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000032" "ACADM" "acyl-CoA dehydrogenase, C-4 to C-12 straight chain, transcript variant 1" "002" "NM_000016.4" "" "NP_000007.1" "" "" "" "-430" "2173" "1266" "76190043" "76229355" "00002" "2012-05-11 13:11:53" "" "" ## 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" "01624" "ACADMD" "medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)" "AR" "201450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-04 14:40:55" "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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACADM" "01624" ## Individuals ## Do not remove or alter this header ## ## Count = 81 "{{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}}" "00000005" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000006" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000007" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000008" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000009" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000010" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00181009" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181010" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181059" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181061" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181062" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00289917" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289918" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289919" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289920" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295114" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309845" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M001" "00309850" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M006" "00309852" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M008" "00309856" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M012" "00309857" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M013" "00309860" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M016" "00309861" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M017" "00335784" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "" "Chinese" "MCADD_P1" "00335785" "" "" "" "1" "" "01864" "" "" "F" "" "China" "" "" "" "" "" "ACADM-P2" "00335786" "" "" "" "1" "" "01864" "" "" "M" "" "China" "" "" "" "" "" "ACADM-P3" "00335787" "" "" "" "1" "" "01864" "" "" "M" "" "China" "" "" "" "" "" "ACADM-P4" "00335788" "" "" "" "1" "" "01864" "" "" "M" "" "China" "" "" "" "" "" "ACADM-P5" "00335789" "" "" "" "1" "" "01864" "" "" "F" "" "China" "" "" "" "" "" "ACADM-P6" "00335790" "" "" "" "1" "" "01864" "" "" "" "" "China" "" "" "" "" "" "ACADM-N1" "00335791" "" "" "" "1" "" "01864" "" "" "" "" "China" "" "" "" "" "" "ACADM-N2" "00335792" "" "" "" "1" "" "01864" "" "" "M" "" "China" "" "" "" "" "" "ACADM-N3" "00335793" "" "" "" "1" "" "01864" "" "" "F" "" "China" "" "" "" "" "" "ACADM-N4" "00335794" "" "" "" "1" "" "01864" "" "" "" "" "" "" "" "" "" "" "ACADM-N5" "00335796" "" "" "" "1" "" "01864" "" "" "M" "" "China" "" "" "" "" "" "ACADM-N7" "00335798" "" "" "" "1" "" "01864" "" "" "F" "" "" "" "" "" "" "" "ACADM-N8" "00335799" "" "" "" "1" "" "01864" "" "" "F" "" "China" "" "" "" "" "" "ACADM-N10" "00335800" "" "" "" "1" "" "01864" "" "" "F" "" "China" "" "" "" "" "" "ACADM-N11" "00335801" "" "" "" "1" "" "01864" "" "" "M" "" "China" "" "" "" "" "" "ACADM-N12" "00335802" "" "" "" "1" "" "01864" "" "" "M" "" "China" "" "" "" "" "" "ACADM-N13" "00335803" "" "" "" "1" "" "01864" "" "" "F" "" "China" "" "" "" "" "" "ACADM-N14" "00335804" "" "" "" "1" "" "01864" "" "" "M" "" "China" "" "" "" "" "" "ACADM-N15" "00335805" "" "" "" "1" "" "01864" "" "" "" "" "" "" "" "" "" "" "ACADM-N16" "00335806" "" "" "" "1" "" "01864" "" "" "F" "" "China" "" "" "" "" "" "ACADM-N17" "00335807" "" "" "" "1" "" "01864" "" "" "" "" "" "" "" "" "" "" "ACADM-N18" "00414704" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01210" "00414706" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA03575" "00451464" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Parents with consanguinity and consanguinity (not molecularly tested)" "F" "yes" "Mexico" "" "" "" "" "Mexican" "3bINP-044" "00451598" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-052" "00452234" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452235" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452236" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452237" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452238" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452239" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452240" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452241" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00453589" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat5" "00453590" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat6" "00453591" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat7" "00453592" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat8" "00453593" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat9" "00453594" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat10" "00453595" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat11" "00453596" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat12" "00453668" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat84" "00453671" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat87" "00453672" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat88" "00453673" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat89" "00453674" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat90" "00453675" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat91" "00453676" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat92" "00453677" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat93" "00453678" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat94" "00453679" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat95" "00453680" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat96" "00457563" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat6" "00457564" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat7" "00457565" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat8" "00457566" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat9" "00457567" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 75 "{{individualid}}" "{{diseaseid}}" "00181009" "01624" "00181010" "01624" "00181059" "01624" "00181061" "01624" "00181062" "01624" "00289917" "00198" "00289918" "00198" "00289919" "00198" "00289920" "00198" "00295114" "00198" "00309845" "01624" "00309850" "01624" "00309852" "01624" "00309856" "01624" "00309857" "01624" "00309860" "01624" "00309861" "01624" "00335784" "01624" "00335785" "01624" "00335786" "01624" "00335787" "01624" "00335788" "01624" "00335789" "01624" "00335790" "01624" "00335791" "01624" "00335792" "01624" "00335793" "01624" "00335794" "01624" "00335796" "01624" "00335798" "01624" "00335799" "01624" "00335800" "01624" "00335801" "01624" "00335802" "01624" "00335803" "01624" "00335804" "01624" "00335805" "01624" "00335806" "01624" "00335807" "01624" "00414704" "04214" "00414706" "04214" "00451464" "01624" "00451598" "01625" "00452234" "00198" "00452235" "00198" "00452236" "00198" "00452237" "00198" "00452238" "00198" "00452239" "00198" "00452240" "00198" "00452241" "00198" "00453589" "02554" "00453590" "02554" "00453591" "02554" "00453592" "02554" "00453593" "02554" "00453594" "02554" "00453595" "02554" "00453596" "02554" "00453668" "02554" "00453671" "02554" "00453672" "02554" "00453673" "02554" "00453674" "02554" "00453675" "02554" "00453676" "02554" "00453677" "02554" "00453678" "02554" "00453679" "02554" "00453680" "02554" "00457563" "00198" "00457564" "00198" "00457565" "00198" "00457566" "00198" "00457567" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01624, 01625, 02554, 04214 ## Count = 55 "{{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}}" "0000143312" "01624" "00181059" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143314" "01624" "00181061" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143315" "01624" "00181062" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143392" "01624" "00181009" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143393" "01624" "00181010" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235160" "01624" "00309845" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACADMD" "MCAD deficiency (AR)" "" "0000235165" "01624" "00309850" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACADMD" "MCAD deficiency (AR)" "" "0000235167" "01624" "00309852" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACADMD" "MCAD deficiency (AR)" "" "0000235171" "01624" "00309856" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACADMD" "MCAD deficiency" "" "0000235172" "01624" "00309857" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACADMD" "MCAD deficiency" "" "0000235175" "01624" "00309860" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACADMD" "MCAD deficiency" "" "0000235176" "01624" "00309861" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACADMD" "MCAD deficiency" "" "0000253702" "01624" "00335784" "01864" "Familial, autosomal recessive" "" "convulsion coma" "" "02y03m" "" "" "" "" "" "" "" "" "" "0000253703" "01624" "00335785" "01864" "Familial, autosomal recessive" "" "diarrhea vomiting \r\nconvulsion" "" "" "" "" "" "" "" "" "" "" "" "0000253704" "01624" "00335786" "01864" "Familial, autosomal recessive" "" "lethargy, hypoglycemia" "" "00y34m" "" "" "" "" "" "" "" "" "" "0000253705" "01624" "00335787" "01864" "Familial, autosomal recessive" "" "Vomiting diarrhea convulsion" "" "00y15m" "" "" "" "" "" "" "" "" "" "0000253706" "01624" "00335789" "01864" "Familial" "" "fever, lethargy\r\nhypoglycemia" "" "" "" "" "" "" "" "" "" "" "" "0000253707" "01624" "00335790" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253708" "01624" "00335791" "01864" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000306499" "04214" "00414704" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "galactosemia" "" "" "0000306501" "04214" "00414706" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Tay-Sachs disease" "" "" "0000340201" "01624" "00451464" "04221" "Familial, autosomal recessive" "" "" "" "00y02m23d" "" "" "" "" "" "" "Acyl-CoA dehydrogenase, medium chain, deficiency of (OMIM: 201450)" "Acyl-CoA dehydrogenase, medium chain, deficiency of" "" "0000340273" "01625" "00451598" "04221" "Familial, autosomal recessive" "" "Blue sclerae" "" "00y00m11d" "" "" "" "" "" "" "Acyl-CoA dehydrogenase, medium chain, deficiency of" "Acyl-CoA dehydrogenase, medium chain, deficiency of" "" "0000340837" "00198" "00452234" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADMD" "medium chain acyl-CoA dehydrogenase deficiency" "" "0000340838" "00198" "00452235" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADMD" "medium chain acyl-CoA dehydrogenase deficiency" "" "0000340839" "00198" "00452236" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADMD" "medium chain acyl-CoA dehydrogenase deficiency" "" "0000340840" "00198" "00452237" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADMD" "medium chain acyl-CoA dehydrogenase deficiency" "" "0000340841" "00198" "00452238" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADMD" "medium chain acyl-CoA dehydrogenase deficiency" "" "0000340842" "00198" "00452239" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADMD" "medium chain acyl-CoA dehydrogenase deficiency" "" "0000340843" "00198" "00452240" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADMD" "medium chain acyl-CoA dehydrogenase deficiency" "" "0000340844" "00198" "00452241" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADMD" "medium chain acyl-CoA dehydrogenase deficiency" "" "0000342246" "02554" "00453589" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADMD" "inborn error of metabolism" "" "0000342247" "02554" "00453590" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADMD" "inborn error of metabolism" "" "0000342248" "02554" "00453591" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADMD" "inborn error of metabolism" "" "0000342249" "02554" "00453592" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADMD" "inborn error of metabolism" "" "0000342250" "02554" "00453593" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADMD" "inborn error of metabolism" "" "0000342251" "02554" "00453594" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADMD" "inborn error of metabolism" "" "0000342252" "02554" "00453595" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADMD" "inborn error of metabolism" "" "0000342253" "02554" "00453596" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADMD" "inborn error of metabolism" "" "0000342325" "02554" "00453668" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342328" "02554" "00453671" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342329" "02554" "00453672" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342330" "02554" "00453673" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342331" "02554" "00453674" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342332" "02554" "00453675" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342333" "02554" "00453676" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342334" "02554" "00453677" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342335" "02554" "00453678" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342336" "02554" "00453679" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342337" "02554" "00453680" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000346027" "00198" "00457563" "00006" "Familial, autosomal recessive" "4.5y" "newborn screening; asymptomatic" "" "16d" "" "" "" "" "" "" "ACADMD" "newborn screening" "" "0000346028" "00198" "00457564" "00006" "Familial, autosomal recessive" "3.5y" "newborn screening; asymptomatic" "" "36d" "" "" "" "" "" "" "ACADMD" "newborn screening" "" "0000346029" "00198" "00457565" "00006" "Familial, autosomal recessive" "6.9y" "newborn screening; asymptomatic" "" "51d" "" "" "" "" "" "" "ACADMD" "newborn screening" "" "0000346030" "00198" "00457566" "00006" "Familial, autosomal recessive" "1.4y" "newborn screening; asymptomatic" "" "56d" "" "" "" "" "" "" "ACADMD" "newborn screening" "" "0000346031" "00198" "00457567" "00006" "Unknown" "1.4y" "newborn screening; asymptomatic" "" "5m" "" "" "" "" "" "" "" "newborn screening" "" ## Screenings ## Do not remove or alter this header ## ## Count = 81 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000005" "00000005" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000006" "00000006" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000007" "00000007" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000008" "00000008" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000009" "00000009" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000010" "00000010" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000181956" "00181009" "1" "02568" "02568" "2018-09-20 16:48:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000181957" "00181010" "1" "02568" "02568" "2018-09-20 16:55:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000182007" "00181059" "1" "02568" "02568" "2018-09-21 14:46:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000182009" "00181061" "1" "02568" "02568" "2018-09-21 14:51:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000182010" "00181062" "1" "02568" "02568" "2018-09-21 14:54:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000291085" "00289917" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291086" "00289918" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291087" "00289919" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291088" "00289920" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296282" "00295114" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310989" "00309845" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310994" "00309850" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310996" "00309852" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000311000" "00309856" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000311001" "00309857" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000311004" "00309860" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000311005" "00309861" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000337013" "00335784" "1" "01864" "01864" "2021-03-09 01:43:56" "" "" "SEQ" "DNA" "blood" "" "0000337014" "00335785" "1" "01864" "01864" "2021-03-09 02:59:29" "" "" "SEQ" "DNA" "" "" "0000337015" "00335786" "1" "01864" "01864" "2021-03-09 03:31:20" "" "" "SEQ" "DNA" "" "" "0000337016" "00335787" "1" "01864" "01864" "2021-03-09 03:54:41" "" "" "SEQ" "DNA" "" "" "0000337017" "00335788" "1" "01864" "01864" "2021-03-09 04:09:40" "" "" "SEQ" "DNA" "" "" "0000337018" "00335789" "1" "01864" "01864" "2021-03-09 04:18:14" "" "" "SEQ" "DNA" "" "" "0000337019" "00335790" "1" "01864" "01864" "2021-03-09 04:26:14" "" "" "SEQ" "DNA" "" "" "0000337021" "00335791" "1" "01864" "01864" "2021-03-09 05:18:40" "" "" "SEQ" "DNA" "" "" "0000337022" "00335792" "1" "01864" "01864" "2021-03-09 05:26:23" "" "" "SEQ" "DNA" "" "" "0000337023" "00335793" "1" "01864" "01864" "2021-03-09 05:32:15" "" "" "SEQ" "DNA" "" "" "0000337024" "00335794" "1" "01864" "01864" "2021-03-09 05:38:40" "" "" "SEQ" "DNA" "" "" "0000337026" "00335796" "1" "01864" "01864" "2021-03-09 05:46:17" "" "" "SEQ" "DNA" "" "" "0000337028" "00335798" "1" "01864" "01864" "2021-03-09 05:57:04" "" "" "SEQ" "DNA" "" "" "0000337029" "00335799" "1" "01864" "01864" "2021-03-09 06:01:50" "" "" "SEQ" "DNA" "" "" "0000337030" "00335800" "1" "01864" "01864" "2021-03-09 06:07:06" "" "" "SEQ" "DNA" "" "" "0000337031" "00335801" "1" "01864" "01864" "2021-03-09 06:12:44" "" "" "SEQ" "DNA" "" "" "0000337032" "00335802" "1" "01864" "01864" "2021-03-09 06:16:35" "" "" "SEQ" "DNA" "" "" "0000337033" "00335803" "1" "01864" "01864" "2021-03-09 06:20:40" "" "" "SEQ" "DNA" "" "" "0000337034" "00335804" "1" "01864" "01864" "2021-03-09 06:23:24" "" "" "SEQ" "DNA" "" "" "0000337035" "00335805" "1" "01864" "01864" "2021-03-09 06:28:07" "" "" "SEQ" "DNA" "" "" "0000337036" "00335806" "1" "01864" "01864" "2021-03-09 06:40:27" "" "" "SEQ" "DNA" "" "" "0000337037" "00335807" "1" "01864" "01864" "2021-03-09 06:46:51" "" "" "SEQ" "DNA" "" "" "0000415985" "00414704" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000415987" "00414706" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000453065" "00451464" "1" "04221" "04221" "2024-06-07 00:56:15" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453199" "00451598" "1" "04221" "04221" "2024-06-12 19:26:57" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453836" "00452234" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453837" "00452235" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453838" "00452236" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453839" "00452237" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453840" "00452238" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453841" "00452239" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453842" "00452240" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453843" "00452241" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455201" "00453589" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455202" "00453590" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455203" "00453591" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455204" "00453592" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455205" "00453593" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455206" "00453594" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455207" "00453595" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455208" "00453596" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455280" "00453668" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455283" "00453671" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455284" "00453672" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455285" "00453673" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455286" "00453674" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455287" "00453675" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455288" "00453676" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455289" "00453677" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455290" "00453678" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455291" "00453679" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455292" "00453680" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000459183" "00457563" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459184" "00457564" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459185" "00457565" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459186" "00457566" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459187" "00457567" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "plasma" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 119 "{{screeningid}}" "{{geneid}}" "0000000005" "ACADM" "0000000005" "ATP7B" "0000000005" "CFTR" "0000000005" "ETFB" "0000000005" "GLB1" "0000000005" "MEFV" "0000000005" "NHLRC1" "0000000005" "PKHD1" "0000000005" "RAPSN" "0000000005" "SERPINA1" "0000000005" "SLC26A2" "0000000005" "USH2A" "0000000006" "ACADM" "0000000006" "APTX" "0000000006" "ATP7B" "0000000006" "GALC" "0000000006" "MTHFR" "0000000006" "SERPINA1" "0000000006" "SGSH" "0000000006" "SLC26A2" "0000000007" "ACADM" "0000000007" "ATP7B" "0000000007" "CDH23" "0000000007" "HESX1" "0000000007" "HGSNAT" "0000000007" "NPHS1" "0000000007" "PAH" "0000000007" "PKHD1" "0000000007" "SERPINA1" "0000000008" "ACADM" "0000000008" "ADA" "0000000008" "ATP7B" "0000000008" "CFTR" "0000000008" "ETFB" "0000000008" "FKTN" "0000000008" "HESX1" "0000000008" "HGSNAT" "0000000008" "MYO5A" "0000000008" "NPHS1" "0000000008" "SERPINA1" "0000000008" "USH2A" "0000000009" "ACADM" "0000000009" "ARSB" "0000000009" "ATP7B" "0000000009" "CFTR" "0000000009" "CLN3" "0000000009" "ETFB" "0000000009" "GAN" "0000000009" "GLB1" "0000000009" "HEXB" "0000000009" "IGHMBP2" "0000000009" "MEFV" "0000000009" "NHLRC1" "0000000009" "NPHS1" "0000000009" "NTRK1" "0000000009" "PMP22" "0000000009" "SERPINA1" "0000000009" "WNT10A" "0000000010" "ACADM" "0000000010" "ATP7B" "0000000010" "BTD" "0000000010" "CLN3" "0000000010" "CPT1A" "0000000010" "DGUOK" "0000000010" "ERCC6" "0000000010" "ETFB" "0000000010" "NHLRC1" "0000000010" "PAH" "0000181956" "ACADM" "0000181957" "ACADM" "0000182007" "ACADM" "0000182009" "ACADM" "0000182010" "ACADM" "0000310989" "ACADM" "0000310994" "ACADM" "0000310996" "ACADM" "0000311000" "ACADM" "0000311001" "ACADM" "0000311004" "ACADM" "0000311005" "ACADM" "0000337013" "ACADM" "0000337014" "ACADM" "0000337015" "ACADM" "0000337016" "ACADM" "0000337017" "ACADM" "0000337018" "ACADM" "0000337019" "ACADM" "0000337021" "ACADM" "0000337022" "ACADM" "0000337023" "ACADM" "0000337024" "ACADM" "0000337026" "ACADM" "0000337028" "ACADM" "0000337029" "ACADM" "0000337030" "ACADM" "0000337031" "ACADM" "0000337032" "ACADM" "0000337033" "ACADM" "0000337034" "ACADM" "0000337035" "ACADM" "0000337036" "ACADM" "0000337037" "ACADM" "0000415985" "GALT" "0000415987" "HEXA" "0000453065" "ACADM" "0000453199" "ACADM" "0000453836" "ACADM" "0000453837" "ACADM" "0000453838" "ACADM" "0000453839" "ACADM" "0000453840" "ACADM" "0000453841" "ACADM" "0000453842" "ACADM" "0000453843" "ACADM" "0000459183" "ACADM" "0000459184" "ACADM" "0000459185" "ACADM" "0000459186" "ACADM" "0000459187" "ACADM" ## 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 = 139 "{{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}}" "0000000005" "0" "50" "1" "76199277" "76199277" "subst" "0.0266005" "00002" "ACADM_000001" "g.76199277A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75733592A>C" "" "VUS" "" "0000000006" "0" "50" "1" "76199277" "76199277" "subst" "0.0266005" "00002" "ACADM_000001" "g.76199277A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75733592A>C" "" "VUS" "" "0000000007" "0" "50" "1" "76199277" "76199277" "subst" "0.0266005" "00002" "ACADM_000001" "g.76199277A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75733592A>C" "" "VUS" "" "0000000008" "0" "50" "1" "76199277" "76199277" "subst" "0.0266005" "00002" "ACADM_000001" "g.76199277A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75733592A>C" "" "VUS" "" "0000000009" "0" "50" "1" "76198571" "76198571" "subst" "6.90759E-5" "00002" "ACADM_000002" "g.76198571C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75732886C>T" "" "VUS" "" "0000000010" "0" "50" "1" "76226846" "76226846" "subst" "0.00330238" "00002" "ACADM_000003" "g.76226846A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75761161A>G" "" "VUS" "" "0000249316" "0" "30" "1" "76199277" "76199277" "subst" "0.0266005" "02325" "ACADM_000001" "g.76199277A>C" "" "" "" "ACADM(NM_000016.5):c.351A>C (p.T117=), ACADM(NM_001127328.3):c.363A>C (p.T121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75733592A>C" "" "likely benign" "" "0000249651" "0" "90" "1" "76226846" "76226846" "subst" "0.00330238" "02325" "ACADM_000003" "g.76226846A>G" "" "" "" "ACADM(NM_000016.5):c.985A>G (p.K329E), ACADM(NM_000016.6):c.985A>G (p.K329E), ACADM(NM_001127328.2):c.997A>G (p.K333E), ACADM(NM_001286043.1):c.108..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75761161A>G" "" "pathogenic" "" "0000339054" "0" "70" "1" "76215192" "76215192" "subst" "0.000296466" "02327" "ACADM_000004" "g.76215192A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75749507A>G" "" "likely pathogenic" "" "0000339112" "0" "50" "1" "76226952" "76226952" "subst" "0.000491766" "02327" "ACADM_000005" "g.76226952T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75761267T>C" "" "VUS" "" "0000405738" "11" "70" "1" "76199264" "76199264" "subst" "0" "02568" "ACADM_000006" "g.76199264C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.75733579C>A" "" "likely pathogenic" "" "0000405739" "21" "50" "1" "76216226" "76216226" "subst" "0" "02568" "ACADM_000010" "g.76216226G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75750541G>C" "" "VUS" "" "0000405740" "21" "90" "1" "76226846" "76226846" "subst" "0.00330238" "02568" "ACADM_000003" "g.76226846A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.75761161A>G" "" "pathogenic" "" "0000405741" "11" "70" "1" "76205798" "76205798" "subst" "9.34428E-5" "02568" "ACADM_000007" "g.76205798A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.75740113A>G" "" "likely pathogenic" "" "0000405817" "21" "90" "1" "76215189" "76215198" "del" "0" "02568" "ACADM_000008" "g.76215189_76215198delinsTTTAA" "" "" "" "794_803delGTGACGGAGCinsTTTAA" "" "Germline" "" "" "0" "" "" "g.75749504_75749513delinsTTTAA" "" "pathogenic" "" "0000405819" "21" "70" "1" "76215240" "76215240" "subst" "0" "02568" "ACADM_000009" "g.76215240C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75749555C>G" "" "likely pathogenic" "" "0000405821" "11" "90" "1" "76190036" "76190503" "del" "0" "02568" "ACADM_000011" "g.(?_76190036)_(76190503_76194085)del" "" "" "" "-437-?_30+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000508358" "0" "30" "1" "76198337" "76198337" "subst" "0.00213307" "01804" "ACADM_000012" "g.76198337G>A" "" "" "" "ACADM(NM_000016.6):c.127G>A (p.(Glu43Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75732652G>A" "" "likely benign" "" "0000508360" "0" "50" "1" "76215215" "76215215" "subst" "8.12348E-6" "01804" "ACADM_000014" "g.76215215A>G" "" "" "" "ACADM(NM_000016.4):c.820A>G (p.(Met274Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75749530A>G" "" "VUS" "" "0000508361" "0" "90" "1" "76226846" "76226846" "subst" "0.00330238" "02327" "ACADM_000003" "g.76226846A>G" "" "" "" "ACADM(NM_000016.5):c.985A>G (p.K329E), ACADM(NM_000016.6):c.985A>G (p.K329E), ACADM(NM_001127328.2):c.997A>G (p.K333E), ACADM(NM_001286043.1):c.108..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75761161A>G" "" "pathogenic" "" "0000508362" "0" "10" "1" "76227022" "76227022" "subst" "0.234732" "02325" "ACADM_000015" "g.76227022A>G" "" "" "" "ACADM(NM_000016.5):c.1161A>G (p.V387=), ACADM(NM_001127328.2):c.1173A>G (p.V391=), ACADM(NM_001286043.2):c.1260A>G (p.V420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75761337A>G" "" "benign" "" "0000508363" "0" "50" "1" "76227022" "76227022" "subst" "0.234732" "02326" "ACADM_000015" "g.76227022A>G" "" "" "" "ACADM(NM_000016.5):c.1161A>G (p.V387=), ACADM(NM_001127328.2):c.1173A>G (p.V391=), ACADM(NM_001286043.2):c.1260A>G (p.V420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75761337A>G" "" "VUS" "" "0000647774" "1" "50" "1" "76198337" "76198337" "subst" "0.00213307" "03575" "ACADM_000012" "g.76198337G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs147559466}" "Germline" "" "rs147559466" "0" "" "" "g.75732652G>A" "" "VUS" "" "0000647775" "1" "70" "1" "76198367" "76198367" "subst" "3.24984E-5" "03575" "ACADM_000016" "g.76198367C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123072}" "Germline" "" "rs398123072" "0" "" "" "g.75732682C>T" "" "likely pathogenic" "" "0000647776" "1" "30" "1" "76199277" "76199277" "subst" "0.0266005" "03575" "ACADM_000001" "g.76199277A>C" "31/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "31 heterozygous, no homozygous; {DB:CLININrs74090726}" "Germline" "" "rs74090726" "0" "" "" "g.75733592A>C" "" "likely benign" "" "0000647777" "1" "70" "1" "76215194" "76215194" "subst" "0.000219305" "03575" "ACADM_000017" "g.76215194G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs121434274}" "Germline" "" "rs121434274" "0" "" "" "g.75749509G>A" "" "likely pathogenic" "" "0000652971" "1" "50" "1" "76226846" "76226846" "subst" "0.00330238" "03575" "ACADM_000003" "g.76226846A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs77931234}" "Germline" "" "rs77931234" "0" "" "" "g.75761161A>G" "" "VUS" "" "0000686139" "1" "90" "1" "76215194" "76215194" "subst" "0.000219305" "00006" "ACADM_000017" "g.76215194G>A" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686144" "3" "90" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686146" "3" "90" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686150" "3" "90" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686151" "3" "90" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686154" "3" "90" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686155" "1" "90" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686168" "2" "90" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686178" "2" "90" "1" "76198409" "76198409" "subst" "0.000495556" "00006" "ACADM_000018" "g.76198409T>C" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000688245" "0" "90" "1" "76226846" "76226846" "subst" "0.00330238" "01943" "ACADM_000003" "g.76226846A>G" "" "" "" "ACADM(NM_000016.5):c.985A>G (p.K329E), ACADM(NM_000016.6):c.985A>G (p.K329E), ACADM(NM_001127328.2):c.997A>G (p.K333E), ACADM(NM_001286043.1):c.108..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000736563" "21" "50" "1" "76200549" "76200549" "subst" "0" "01864" "ACADM_000028" "g.76200549T>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000736564" "11" "50" "1" "76211559" "76211559" "subst" "2.03105E-5" "01864" "ACADM_000031" "g.76211559T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000736565" "21" "50" "1" "76199234" "76199234" "subst" "0" "01864" "ACADM_000019" "g.76199234T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000736566" "11" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000736567" "11" "50" "1" "76226901" "76226901" "subst" "0" "01864" "ACADM_000021" "g.76226901G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736568" "11" "50" "1" "76199264" "76199267" "del" "0" "01864" "ACADM_000023" "g.76199264_76199267del" "" "" "" "338_341delCTTA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736569" "21" "50" "1" "76205750" "76205782" "del" "0" "01864" "ACADM_000022" "g.76205750_76205782del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736570" "21" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000736571" "11" "50" "1" "76199234" "76199234" "subst" "0" "01864" "ACADM_000019" "g.76199234T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736572" "3" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736573" "11" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736574" "21" "50" "1" "76215104" "76215104" "subst" "0" "01864" "ACADM_000024" "g.76215104G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000736575" "21" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "g.75734852_75734855del" "" "pathogenic (recessive)" "" "0000736576" "11" "50" "1" "76216233" "76216233" "subst" "0" "01864" "ACADM_000039" "g.76216233T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000736577" "11" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736578" "0" "50" "1" "76194146" "76194146" "subst" "8.12315E-6" "01864" "ACADM_000041" "g.76194146C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736579" "0" "50" "1" "76226906" "76226906" "subst" "4.06276E-6" "01864" "ACADM_000043" "g.76226906C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000736580" "0" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736581" "0" "50" "1" "76226831" "76226832" "delins" "0" "01864" "ACADM_000042" "g.76226831_76226832delinsAT" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736582" "0" "50" "1" "76194146" "76194146" "subst" "8.12315E-6" "01864" "ACADM_000041" "g.76194146C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736583" "0" "50" "1" "76198367" "76198367" "subst" "3.24984E-5" "01864" "ACADM_000016" "g.76198367C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736587" "0" "50" "1" "76199311" "76199311" "subst" "0" "01864" "ACADM_000025" "g.76199311G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000736588" "0" "50" "1" "76211559" "76211559" "subst" "2.03105E-5" "01864" "ACADM_000031" "g.76211559T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000736589" "0" "50" "1" "76199314" "76199314" "del" "0" "01864" "ACADM_000040" "g.76199314del" "" "" "" "387+1delG" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736590" "0" "50" "1" "76205783" "76205783" "subst" "0" "01864" "ACADM_000029" "g.76205783G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000736591" "3" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736592" "3" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736593" "0" "50" "1" "76216191" "76216191" "subst" "0" "01864" "ACADM_000035" "g.76216191A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000736594" "0" "50" "1" "76226949" "76226949" "subst" "0" "01864" "ACADM_000037" "g.76226949A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000736595" "0" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736596" "0" "50" "1" "76199314" "76199314" "del" "0" "01864" "ACADM_000040" "g.76199314del" "" "" "" "387+1delG" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736597" "0" "50" "1" "76215164" "76215164" "subst" "0" "01864" "ACADM_000034" "g.76215164G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000736598" "0" "50" "1" "76228411" "76228411" "subst" "0" "01864" "ACADM_000038" "g.76228411T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000736599" "3" "70" "1" "76200537" "76200540" "del" "0" "01864" "ACADM_000020" "g.76200537_76200540del" "" "" "" "449_452 delCTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736600" "0" "50" "1" "76211515" "76211515" "del" "0" "01864" "ACADM_000030" "g.76211515del" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000736601" "0" "50" "1" "76226946" "76226946" "subst" "1.62565E-5" "01864" "ACADM_000036" "g.76226946G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000799522" "0" "10" "1" "76194054" "76194054" "subst" "0.247461" "02327" "ACADM_000044" "g.76194054C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799523" "0" "10" "1" "76198436" "76198436" "subst" "0.276452" "02327" "ACADM_000045" "g.76198436T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799524" "0" "10" "1" "76198785" "76198785" "subst" "0" "02327" "ACADM_000046" "g.76198785G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799525" "0" "30" "1" "76199203" "76199203" "subst" "3.65696E-5" "01943" "ACADM_000047" "g.76199203G>C" "" "" "" "ACADM(NM_001286043.1):c.386-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799526" "0" "10" "1" "76227022" "76227022" "subst" "0.234732" "02327" "ACADM_000015" "g.76227022A>G" "" "" "" "ACADM(NM_000016.5):c.1161A>G (p.V387=), ACADM(NM_001127328.2):c.1173A>G (p.V391=), ACADM(NM_001286043.2):c.1260A>G (p.V420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848846" "0" "70" "1" "76200559" "76200559" "subst" "0" "02327" "ACADM_000048" "g.76200559G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857605" "0" "90" "1" "76205671" "76205671" "del" "0" "02326" "ACADM_000049" "g.76205671del" "" "" "" "ACADM(NM_000016.5):c.475delT (p.C159Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000868448" "0" "70" "1" "76211574" "76211574" "subst" "0.000296594" "03779" "ACADM_000050" "g.76211574C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs149678400" "0" "" "" "" "" "likely pathogenic" "" "0000873897" "0" "10" "1" "76199277" "76199277" "subst" "0.0266005" "00000" "ACADM_000001" "g.76199277A>C" "" "{PMID:Bell 2011:21228398}" "" "ACADM 1:75971865 (hg18) het CM066527 6.7%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.75733592A>C" "" "benign" "" "0000873923" "0" "10" "1" "76199277" "76199277" "subst" "0.0266005" "00000" "ACADM_000001" "g.76199277A>C" "" "{PMID:Bell 2011:21228398}" "" "ACADM 1:75971865 (hg18) het CM066527 6.7%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.75733592A>C" "" "benign" "" "0000883596" "0" "90" "1" "76199288" "76199288" "subst" "1.2184E-5" "02327" "ACADM_000051" "g.76199288C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911132" "0" "90" "1" "76198554" "76198554" "subst" "2.43789E-5" "02325" "ACADM_000052" "g.76198554T>C" "" "" "" "ACADM(NM_000016.6):c.233T>C (p.I78T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923240" "0" "90" "1" "76198409" "76198409" "subst" "0.000495556" "02325" "ACADM_000018" "g.76198409T>C" "" "" "" "ACADM(NM_000016.5):c.199T>C (p.Y67H), ACADM(NM_000016.6):c.199T>C (p.Y67H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923241" "0" "50" "1" "76199277" "76199277" "subst" "0.0266005" "02327" "ACADM_000001" "g.76199277A>C" "" "" "" "ACADM(NM_000016.5):c.351A>C (p.T117=), ACADM(NM_001127328.3):c.363A>C (p.T121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928213" "0" "90" "1" "76198409" "76198409" "subst" "0.000495556" "02326" "ACADM_000018" "g.76198409T>C" "" "" "" "ACADM(NM_000016.5):c.199T>C (p.Y67H), ACADM(NM_000016.6):c.199T>C (p.Y67H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961152" "0" "50" "1" "76226846" "76226846" "subst" "0.00330238" "02326" "ACADM_000003" "g.76226846A>G" "" "" "" "ACADM(NM_000016.5):c.985A>G (p.K329E), ACADM(NM_000016.6):c.985A>G (p.K329E), ACADM(NM_001127328.2):c.997A>G (p.K333E), ACADM(NM_001286043.1):c.108..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974105" "0" "10" "1" "76199277" "76199277" "subst" "0.0266005" "02326" "ACADM_000001" "g.76199277A>C" "" "" "" "ACADM(NM_000016.5):c.351A>C (p.T117=), ACADM(NM_001127328.3):c.363A>C (p.T121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974106" "0" "50" "1" "76211505" "76211505" "subst" "0" "01804" "ACADM_000053" "g.76211505C>T" "" "" "" "ACADM(NM_000016.6):c.614C>T (p.(Ala205Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974107" "0" "50" "1" "76211557" "76211557" "subst" "8.53014E-5" "01804" "ACADM_000054" "g.76211557C>A" "" "" "" "ACADM(NM_000016.6):c.666C>A (p.(Phe222Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974108" "0" "50" "1" "76211571" "76211571" "subst" "0" "01804" "ACADM_000055" "g.76211571A>G" "" "" "" "ACADM(NM_000016.6):c.680A>G (p.(Asp227Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987575" "1" "90" "1" "76215194" "76215194" "subst" "0.000219305" "04221" "ACADM_000017" "g.76215194G>A" "" "" "" "" "Roman 2020:32853555, Gramer 2015:25940036, Koster 2014:24966162" "Germline" "yes" "rs121434274" "0" "" "" "g.75749509G>A" "{CV:3588}" "pathogenic (recessive)" "ACMG" "0000987576" "2" "90" "1" "76226820" "76226820" "subst" "0" "04221" "ACADM_000056" "g.76226820C>A" "" "Smith 2010:20434380, Tolwani 2005:16121256" "" "" "" "Germline" "yes" "rs1057516485" "0" "" "" "g.75761135C>A" "{CV:370434}" "pathogenic (recessive)" "ACMG" "0000987723" "0" "90" "1" "76226846" "76226846" "subst" "0.00330238" "04221" "ACADM_000003" "g.76226846A>G" "" "" "" "" "Only one pathogenic variant was identified in autosomal recessive Acyl-CoA dehydrogenase, medium chain, deficiency of. Candidate to Microarray test or/and whole genome sequencing; Orlov 2022:35026467, Lotta 2021:33414548" "Germline" "yes" "rs77931234" "0" "" "" "g.75761161A>G" "{CV:3586}" "pathogenic (recessive)" "ACMG" "0000988598" "0" "70" "1" "76200537" "76200540" "del" "0" "00006" "ACADM_000020" "g.76200537_76200540del" "2/10 case chromosomes" "{PMID:Wang 2019:31737040}" "" "449_452delCTGA" "" "Germline" "" "" "0" "" "" "g.75734852_75734855del" "" "likely pathogenic" "" "0000988599" "0" "50" "1" "76205785" "76205785" "subst" "4.06223E-6" "00006" "ACADM_000057" "g.76205785A>G" "1/10 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.75740100A>G" "" "VUS" "" "0000988600" "0" "50" "1" "0" "0" "" "" "00006" "NPHS2_000000" "g.?" "1/10 case chromosomes" "{PMID:Wang 2019:31737040}" "" "790G>T (G264C)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000988601" "0" "50" "1" "76226831" "76226831" "subst" "0" "00006" "ACADM_000058" "g.76226831G>A" "1/10 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.75761146G>A" "" "VUS" "" "0000988602" "0" "50" "1" "76227032" "76227032" "subst" "0" "00006" "ACADM_000059" "g.76227032A>G" "1/10 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.75761347A>G" "" "VUS" "" "0000988603" "0" "50" "1" "76228420" "76228420" "subst" "2.03769E-5" "00006" "ACADM_000060" "g.76228420G>A" "1/10 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.75762735G>A" "" "VUS" "" "0000988604" "0" "50" "1" "76228429" "76228429" "subst" "2.04075E-5" "00006" "ACADM_000061" "g.76228429T>C" "1/10 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.75762744T>C" "" "VUS" "" "0000988605" "0" "50" "1" "76228430" "76228430" "subst" "0" "00006" "ACADM_000062" "g.76228430T>G" "1/10 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.75762745T>G" "" "VUS" "" "0001007234" "1" "70" "1" "76199264" "76199264" "subst" "0" "00006" "ACADM_000006" "g.76199264C>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75733579C>A" "" "likely pathogenic" "" "0001007235" "3" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007236" "3" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007237" "3" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007238" "1" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007239" "1" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007240" "1" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007241" "1" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007313" "11" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007316" "1" "70" "1" "76198428" "76198428" "subst" "0" "00006" "ACADM_000064" "g.76198428T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75732743T>C" "" "likely pathogenic" "" "0001007317" "1" "70" "1" "76205699" "76205699" "subst" "8.12645E-6" "00006" "ACADM_000065" "g.76205699A>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75740014A>C" "" "likely pathogenic" "" "0001007318" "1" "90" "1" "76215189" "76215198" "delins" "0" "00006" "ACADM_000008" "g.76215189_76215198delinsTTTAA" "" "{PMID:Navarrete 2019:30626930}" "" "c.794_803delGTGACGGAGCinsTTTAA" "" "Germline" "" "" "0" "" "" "g.75749504_75749513delinsTTTAA" "" "pathogenic" "" "0001007319" "1" "70" "1" "76215240" "76215240" "subst" "0" "00006" "ACADM_000009" "g.76215240C>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75749555C>G" "" "likely pathogenic" "" "0001007320" "1" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007321" "1" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007322" "1" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007323" "1" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007324" "1" "70" "1" "76226846" "76226846" "subst" "0.00330238" "00006" "ACADM_000003" "g.76226846A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75761161A>G" "" "likely pathogenic" "" "0001007325" "1" "90" "1" "76190043" "76190503" "del" "0" "00006" "ACADM_000063" "g.(?_76190043)_(76190503_76194085)del" "" "{PMID:Navarrete 2019:30626930}" "" "-437-?_30+?del del ex1" "" "Germline" "" "" "0" "" "" "g.(?_75724358)_(75724818_75728400)del" "" "pathogenic" "" "0001007364" "2" "50" "1" "76216226" "76216226" "subst" "0" "00006" "ACADM_000010" "g.76216226G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75750541G>C" "" "VUS" "" "0001007365" "2" "70" "1" "76198337" "76198337" "subst" "0.00213307" "00006" "ACADM_000012" "g.76198337G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75732652G>A" "" "likely pathogenic" "" "0001007366" "2" "70" "1" "76205798" "76205798" "subst" "9.34428E-5" "00006" "ACADM_000007" "g.76205798A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "rs375921211" "0" "" "" "g.75740113A>G" "" "likely pathogenic" "" "0001007367" "2" "70" "1" "76211473" "76211473" "subst" "0.000260086" "00006" "ACADM_000066" "g.76211473G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75745788G>A" "" "likely pathogenic" "" "0001007368" "2" "70" "1" "76211574" "76211574" "subst" "0.000296594" "00006" "ACADM_000050" "g.76211574C>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.75745889C>A" "" "likely pathogenic" "" "0001017105" "1" "90" "1" "76211508" "76211508" "subst" "2.43728E-5" "00006" "ACADM_000067" "g.76211508G>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.75745823G>A" "" "pathogenic (recessive)" "" "0001017106" "1" "90" "1" "76226946" "76226946" "subst" "1.62565E-5" "00006" "ACADM_000036" "g.76226946G>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.75761261G>A" "" "pathogenic (recessive)" "" "0001017107" "1" "90" "1" "76200537" "76200540" "del" "0" "00006" "ACADM_000020" "g.76200537_76200540del" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.75734852_75734855del" "" "pathogenic (recessive)" "" "0001017108" "1" "90" "1" "76200537" "76200540" "del" "0" "00006" "ACADM_000020" "g.76200537_76200540del" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.75734852_75734855del" "" "pathogenic (recessive)" "" "0001017109" "1" "90" "1" "76227050" "76227050" "subst" "3.67695E-5" "00006" "ACADM_000068" "g.76227050T>A" "" "{PMID:Kang 2018:29519241}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.75761365T>A" "" "pathogenic (recessive)" "" "0001017125" "2" "90" "1" "76227050" "76227050" "subst" "3.67695E-5" "00006" "ACADM_000068" "g.76227050T>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.75761365T>A" "" "pathogenic (recessive)" "" "0001017126" "2" "90" "1" "76227050" "76227050" "subst" "3.67695E-5" "00006" "ACADM_000068" "g.76227050T>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.75761365T>A" "" "pathogenic (recessive)" "" "0001017127" "2" "90" "1" "76227050" "76227050" "subst" "3.67695E-5" "00006" "ACADM_000068" "g.76227050T>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.75761365T>A" "" "pathogenic (recessive)" "" "0001017128" "2" "90" "1" "76226946" "76226946" "subst" "1.62565E-5" "00006" "ACADM_000036" "g.76226946G>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.75761261G>A" "" "pathogenic (recessive)" "" "0001032176" "0" "90" "1" "76194146" "76194146" "subst" "8.12315E-6" "01804" "ACADM_000041" "g.76194146C>T" "" "" "" "ACADM(NM_000016.6):c.91C>T (p.(Arg31Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045694" "0" "90" "1" "76198554" "76198554" "subst" "2.43789E-5" "02327" "ACADM_000052" "g.76198554T>C" "" "" "" "ACADM(NM_000016.6):c.233T>C (p.I78T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 ACADM ## Count = 139 "{{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}}" "0000000005" "00000032" "50" "351" "0" "351" "0" "c.351A>C" "r.(=)" "p.(=)" "" "0000000006" "00000032" "50" "351" "0" "351" "0" "c.351A>C" "r.(=)" "p.(=)" "" "0000000007" "00000032" "50" "351" "0" "351" "0" "c.351A>C" "r.(=)" "p.(=)" "" "0000000008" "00000032" "50" "351" "0" "351" "0" "c.351A>C" "r.(=)" "p.(=)" "" "0000000009" "00000032" "50" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Leu84Phe)" "" "0000000010" "00000032" "50" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000249316" "00000032" "30" "351" "0" "351" "0" "c.351A>C" "r.(?)" "p.(Thr117=)" "" "0000249651" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000339054" "00000032" "70" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Asp266Gly)" "" "0000339112" "00000032" "50" "1091" "0" "1091" "0" "c.1091T>C" "r.(?)" "p.(Ile364Thr)" "" "0000405738" "00000032" "70" "338" "0" "338" "0" "c.338C>A" "r.(?)" "p.(Ala113Asp)" "" "0000405739" "00000032" "50" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Val314Leu)" "" "0000405740" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000405741" "00000032" "70" "599" "3" "599" "3" "c.599+3A>G" "r.spl?" "p.?" "" "0000405817" "00000032" "90" "794" "0" "803" "0" "c.794_803delinsTTTAA" "r.(?)" "p.(Gly265Valfs*2)" "" "0000405819" "00000032" "70" "845" "0" "845" "0" "c.845C>G" "r.(?)" "p.(Pro282Arg)" "" "0000405821" "00000032" "90" "-437" "0" "30" "1" "c.(?_-437)_(30+1_31-1)del" "r.0?" "p.0?" "_1_1i" "0000508358" "00000032" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Glu43Lys)" "" "0000508360" "00000032" "50" "820" "0" "820" "0" "c.820A>G" "r.(?)" "p.(Met274Val)" "" "0000508361" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000508362" "00000032" "10" "1161" "0" "1161" "0" "c.1161A>G" "r.(?)" "p.(Val387=)" "" "0000508363" "00000032" "50" "1161" "0" "1161" "0" "c.1161A>G" "r.(?)" "p.(Val387=)" "" "0000647774" "00000032" "50" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Glu43Lys)" "" "0000647775" "00000032" "70" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Cys)" "" "0000647776" "00000032" "30" "351" "0" "351" "0" "c.351A>C" "r.(=)" "p.(=)" "" "0000647777" "00000032" "70" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Arg)" "" "0000652971" "00000032" "50" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000686139" "00000032" "90" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Arg)" "" "0000686144" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000686146" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000686150" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000686151" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000686154" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000686155" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000686168" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000686178" "00000032" "90" "199" "0" "199" "0" "c.199T>C" "r.(?)" "p.(Tyr67His)" "" "0000688245" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000736563" "00000032" "50" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "6" "0000736564" "00000032" "50" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Ile223Thr)" "8" "0000736565" "00000032" "50" "308" "0" "308" "0" "c.308T>A" "r.(?)" "p.(Phe103Tyr)" "" "0000736566" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736567" "00000032" "50" "1040" "0" "1040" "0" "c.1040G>T" "r.(?)" "p.(Gly347Val)" "" "0000736568" "00000032" "50" "338" "0" "341" "0" "c.338_341del" "r.(?)" "p.(Ala113Valfs*36)" "" "0000736569" "00000032" "50" "554" "0" "586" "0" "c.554_586del" "r.(?)" "p.(Ile185_Gly196delinsArg)" "" "0000736570" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736571" "00000032" "50" "308" "0" "308" "0" "c.308T>A" "r.(?)" "p.(Phe103Tyr)" "" "0000736572" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736573" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736574" "00000032" "50" "709" "0" "709" "0" "c.709G>C" "r.(?)" "p.(Glu237Gln)" "" "0000736575" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736576" "00000032" "50" "945" "2" "945" "2" "c.945+2T>G" "r.spl" "p.?" "" "0000736577" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736578" "00000032" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Cys)" "" "0000736579" "00000032" "50" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Arg349*)" "" "0000736580" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736581" "00000032" "50" "970" "0" "971" "0" "c.970_971delinsAT" "r.(?)" "p.(Ala324Ile)" "" "0000736582" "00000032" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Cys)" "" "0000736583" "00000032" "50" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Cys)" "" "0000736587" "00000032" "50" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Arg)" "" "0000736588" "00000032" "50" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Ile223Thr)" "" "0000736589" "00000032" "50" "387" "1" "387" "1" "c.387+1del" "r.spl" "p.?" "" "0000736590" "00000032" "50" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Gly196Glu)" "" "0000736591" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736592" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736593" "00000032" "50" "905" "0" "905" "0" "c.905A>G" "r.(?)" "p.(Tyr302Cys)" "" "0000736594" "00000032" "50" "1088" "0" "1088" "0" "c.1088A>G" "r.(?)" "p.(Asp363Gly)" "" "0000736595" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736596" "00000032" "50" "387" "1" "387" "1" "c.387+1del" "r.spl" "p.?" "" "0000736597" "00000032" "50" "769" "0" "769" "0" "c.769G>A" "r.(?)" "p.(Val257Met)" "" "0000736598" "00000032" "50" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" "" "0000736599" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150Argfs*4)" "" "0000736600" "00000032" "50" "624" "0" "624" "0" "c.624del" "r.(?)" "p.(Pro209Glnfs*30)" "" "0000736601" "00000032" "50" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Gly362Glu)" "" "0000799522" "00000032" "10" "31" "-32" "31" "-32" "c.31-32C>G" "r.(=)" "p.(=)" "" "0000799523" "00000032" "10" "216" "10" "216" "10" "c.216+10T>C" "r.(=)" "p.(=)" "" "0000799524" "00000032" "10" "286" "178" "286" "178" "c.286+178G>A" "r.(=)" "p.(=)" "" "0000799525" "00000032" "30" "287" "-10" "287" "-10" "c.287-10G>C" "r.(=)" "p.(=)" "" "0000799526" "00000032" "10" "1161" "0" "1161" "0" "c.1161A>G" "r.(?)" "p.(Val387=)" "" "0000848846" "00000032" "70" "468" "3" "468" "3" "c.468+3G>C" "r.spl?" "p.?" "" "0000857605" "00000032" "90" "475" "0" "475" "0" "c.475del" "r.(?)" "p.(Cys159Valfs*2)" "" "0000868448" "00000032" "70" "683" "0" "683" "0" "c.683C>A" "r.(?)" "p.(Thr228Asn)" "" "0000873897" "00000032" "10" "351" "0" "351" "0" "c.351A>C" "r.(?)" "p.(Thr117=)" "" "0000873923" "00000032" "10" "351" "0" "351" "0" "c.351A>C" "r.(?)" "p.(Thr117=)" "" "0000883596" "00000032" "90" "362" "0" "362" "0" "c.362C>T" "r.(?)" "p.(Thr121Ile)" "" "0000911132" "00000032" "90" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Ile78Thr)" "" "0000923240" "00000032" "90" "199" "0" "199" "0" "c.199T>C" "r.(?)" "p.(Tyr67His)" "" "0000923241" "00000032" "50" "351" "0" "351" "0" "c.351A>C" "r.(?)" "p.(Thr117=)" "" "0000928213" "00000032" "90" "199" "0" "199" "0" "c.199T>C" "r.(?)" "p.(Tyr67His)" "" "0000961152" "00000032" "50" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000974105" "00000032" "10" "351" "0" "351" "0" "c.351A>C" "r.(?)" "p.(Thr117=)" "" "0000974106" "00000032" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ala205Val)" "" "0000974107" "00000032" "50" "666" "0" "666" "0" "c.666C>A" "r.(?)" "p.(Phe222Leu)" "" "0000974108" "00000032" "50" "680" "0" "680" "0" "c.680A>G" "r.(?)" "p.(Asp227Gly)" "" "0000987575" "00000032" "90" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Arg)" "9" "0000987576" "00000032" "90" "959" "0" "959" "0" "c.959C>A" "r.(?)" "p.(Ser320*)" "11" "0000987723" "00000032" "90" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "11" "0000988598" "00000032" "70" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150ArgfsTer4)" "" "0000988599" "00000032" "50" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "" "0000988600" "00000032" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000988601" "00000032" "50" "970" "0" "970" "0" "c.970G>A" "r.(?)" "c.970G>A" "" "0000988602" "00000032" "50" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "c.1171A>G" "" "0000988603" "00000032" "50" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "c.1238G>A" "" "0000988604" "00000032" "50" "1247" "0" "1247" "0" "c.1247T>C" "r.(?)" "c.1247T>C" "" "0000988605" "00000032" "50" "1248" "0" "1248" "0" "c.1248T>G" "r.(?)" "c.1248T>G" "" "0001007234" "00000032" "70" "338" "0" "338" "0" "c.338C>A" "r.(?)" "p.(Ala113Asp)" "5" "0001007235" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007236" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007237" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007238" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007239" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007240" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007241" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007313" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007316" "00000032" "70" "216" "2" "216" "2" "c.216+2T>C" "r.spl" "p.?" "" "0001007317" "00000032" "70" "503" "0" "503" "0" "c.503A>C" "r.(?)" "p.(Asp168Ala)" "" "0001007318" "00000032" "90" "794" "0" "803" "0" "c.794_803delinsTTTAA" "r.(?)" "p.(Gly265ValfsTer2)" "9" "0001007319" "00000032" "70" "845" "0" "845" "0" "c.845C>G" "r.(?)" "p.(Pro282Arg)" "9" "0001007320" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007321" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007322" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007323" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007324" "00000032" "70" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0001007325" "00000032" "90" "" "0" "" "0" "c.-430_(30+1_31-1){0}" "r.0?" "p.0?" "_1_1i" "0001007364" "00000032" "50" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Val314Leu)" "10" "0001007365" "00000032" "70" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Glu43Lys)" "" "0001007366" "00000032" "70" "599" "3" "599" "3" "c.599+3A>G" "r.spl" "p.?" "" "0001007367" "00000032" "70" "600" "-18" "600" "-18" "c.600-18G>A" "r.spl" "p.?" "" "0001007368" "00000032" "70" "683" "0" "683" "0" "c.683C>A" "r.(?)" "p.(Thr228Asn)" "" "0001017105" "00000032" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0001017106" "00000032" "90" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Gly362Glu)" "" "0001017107" "00000032" "90" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150ArgfsTer4)" "" "0001017108" "00000032" "90" "449" "0" "452" "0" "c.449_452del" "r.(?)" "p.(Thr150ArgfsTer4)" "" "0001017109" "00000032" "90" "1189" "0" "1189" "0" "c.1189T>A" "r.(?)" "p.(Tyr397Asn)" "" "0001017125" "00000032" "90" "1189" "0" "1189" "0" "c.1189T>A" "r.(?)" "p.(Tyr397Asn)" "" "0001017126" "00000032" "90" "1189" "0" "1189" "0" "c.1189T>A" "r.(?)" "p.(Tyr397Asn)" "" "0001017127" "00000032" "90" "1189" "0" "1189" "0" "c.1189T>A" "r.(?)" "p.(Tyr397Asn)" "" "0001017128" "00000032" "90" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Gly362Glu)" "" "0001032176" "00000032" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Cys)" "" "0001045694" "00000032" "90" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Ile78Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 109 "{{screeningid}}" "{{variantid}}" "0000000005" "0000000005" "0000000006" "0000000006" "0000000007" "0000000007" "0000000008" "0000000008" "0000000009" "0000000009" "0000000010" "0000000010" "0000181956" "0000405738" "0000181956" "0000405739" "0000181957" "0000405740" "0000181957" "0000405741" "0000182007" "0000405817" "0000182009" "0000405819" "0000182010" "0000405821" "0000291085" "0000647774" "0000291086" "0000647775" "0000291087" "0000647776" "0000291088" "0000647777" "0000296282" "0000652971" "0000310989" "0000686139" "0000310989" "0000686168" "0000310994" "0000686144" "0000310996" "0000686146" "0000311000" "0000686150" "0000311001" "0000686151" "0000311004" "0000686154" "0000311005" "0000686155" "0000311005" "0000686178" "0000337013" "0000736563" "0000337013" "0000736564" "0000337014" "0000736565" "0000337014" "0000736566" "0000337015" "0000736567" "0000337016" "0000736568" "0000337016" "0000736569" "0000337017" "0000736570" "0000337017" "0000736571" "0000337018" "0000736572" "0000337019" "0000736573" "0000337019" "0000736574" "0000337021" "0000736575" "0000337021" "0000736576" "0000337022" "0000736577" "0000337023" "0000736578" "0000337023" "0000736579" "0000337024" "0000736580" "0000337024" "0000736581" "0000337026" "0000736582" "0000337026" "0000736583" "0000337028" "0000736587" "0000337028" "0000736588" "0000337029" "0000736589" "0000337029" "0000736590" "0000337030" "0000736591" "0000337031" "0000736592" "0000337032" "0000736593" "0000337032" "0000736594" "0000337033" "0000736595" "0000337034" "0000736596" "0000337035" "0000736597" "0000337035" "0000736598" "0000337036" "0000736599" "0000337037" "0000736600" "0000337037" "0000736601" "0000415985" "0000873897" "0000415987" "0000873923" "0000453065" "0000987575" "0000453065" "0000987576" "0000453199" "0000987723" "0000453836" "0000988598" "0000453837" "0000988599" "0000453838" "0000988600" "0000453839" "0000988601" "0000453840" "0000988602" "0000453841" "0000988603" "0000453842" "0000988604" "0000453843" "0000988605" "0000455201" "0001007234" "0000455201" "0001007364" "0000455202" "0001007235" "0000455203" "0001007236" "0000455204" "0001007237" "0000455205" "0001007238" "0000455205" "0001007365" "0000455206" "0001007239" "0000455206" "0001007366" "0000455207" "0001007240" "0000455207" "0001007367" "0000455208" "0001007241" "0000455208" "0001007368" "0000455280" "0001007313" "0000455283" "0001007316" "0000455284" "0001007317" "0000455285" "0001007318" "0000455286" "0001007319" "0000455287" "0001007320" "0000455288" "0001007321" "0000455289" "0001007322" "0000455290" "0001007323" "0000455291" "0001007324" "0000455292" "0001007325" "0000459183" "0001017105" "0000459183" "0001017125" "0000459184" "0001017106" "0000459184" "0001017126" "0000459185" "0001017107" "0000459185" "0001017127" "0000459186" "0001017108" "0000459186" "0001017128" "0000459187" "0001017109"