### LOVD-version 3000-280 ### 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" "03840" "2022-08-02 11:28:54" ## 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 = 3 "{{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" "2016-10-22 17:54:40" "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" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" ## 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 = 48 "{{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}}" "00000003" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{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" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01624, 04214 ## Count = 21 "{{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" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000003" "00000003" "1" "00004" "" "2012-05-11 13:18:36" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "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" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 118 "{{screeningid}}" "{{geneid}}" "0000000003" "ACADM" "0000000003" "CDH23" "0000000003" "DPYD" "0000000003" "ETFB" "0000000003" "GBA" "0000000003" "GLB1" "0000000003" "HADHA" "0000000003" "HESX1" "0000000003" "IGHMBP2" "0000000003" "NHLRC1" "0000000003" "NPHS1" "0000000003" "PKHD1" "0000000003" "SERPINA1" "0000000003" "SLC26A2" "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" ## 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 = 83 "{{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}}" "0000000003" "0" "50" "1" "76199277" "76199277" "subst" "0.0266005" "00002" "ACADM_000001" "g.76199277A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75733592A>C" "" "VUS" "" "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" "0.0000690759" "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_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_001286043.1):c.1084A>G (p.K362E), ACADM(NM_001286043.2):c.1084A>G (p.K362E)" "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" "0.0000934428" "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" "76192294" "del" "0" "02568" "ACADM_000011" "g.(?_76190036)_(76190503_76194085)del" "" "" "" "-437-?_30+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000508360" "0" "50" "1" "76215215" "76215215" "subst" "0.00000812348" "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_001286043.1):c.1084A>G (p.K362E), ACADM(NM_001286043.2):c.1084A>G (p.K362E)" "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_001286043.2):c.1260A>G (p.V420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75761337A>G" "" "benign" "" "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" "0.0000324984" "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_001286043.1):c.1084A>G (p.K362E), ACADM(NM_001286043.2):c.1084A>G (p.K362E)" "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" "0.0000203105" "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" "0.00000812315" "01864" "ACADM_000041" "g.76194146C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736579" "0" "50" "1" "76226906" "76226906" "subst" "0.00000406276" "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" "0.00000812315" "01864" "ACADM_000041" "g.76194146C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000736583" "0" "50" "1" "76198367" "76198367" "subst" "0.0000324984" "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" "0.0000203105" "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" "0.0000162565" "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" "0.0000365696" "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_001286043.2):c.1260A>G (p.V420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848845" "0" "90" "1" "76198409" "76198409" "subst" "0.000495556" "02327" "ACADM_000018" "g.76198409T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "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" "" "" "" "" "" "Unknown" "" "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" "" ## 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 = 83 "{{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}}" "0000000003" "00000032" "50" "351" "0" "351" "0" "c.351A>C" "r.(=)" "p.(=)" "" "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" "31" "0" "c.(?_-437)_(30+1_31-1)del" "r.0?" "p.0?" "_1_1i" "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=)" "" "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=)" "" "0000848845" "00000032" "90" "199" "0" "199" "0" "c.199T>C" "r.(?)" "p.(Tyr67His)" "" "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=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000000003" "0000000003" "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"