### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACADVL) # 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}}" "ACADVL" "acyl-CoA dehydrogenase, very long chain" "17" "p13.1" "unknown" "NG_007975.1" "UD_132118970334" "" "https://www.LOVD.nl/ACADVL" "" "1" "92" "37" "609575" "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/ACADVL_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2017-10-28 14:04:56" "00006" "2025-12-05 13:23:08" ## 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}}" "00025236" "ACADVL" "transcript variant 1" "004" "NM_000018.3" "" "NP_000009.1" "" "" "" "-154" "2138" "1968" "7123150" "7128586" "00006" "2017-10-28 14:03:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "01626" "ACADVLD" "deficiency, very long chain acyl-CoA dehydrogenase (ACADVLD)" "AR" "201475" "" "" "autosomal recessive" "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" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACADVL" "01626" ## Individuals ## Do not remove or alter this header ## ## Count = 117 "{{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}}" "00000012" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000055" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00034633" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034634" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034635" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034636" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034637" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034638" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034639" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034640" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050400" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080847" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00121387" "" "" "" "1" "" "01873" "" "" "" "" "Argentina" "" "0" "" "" "" "BR1358" "00132613" "" "" "" "1" "" "00024" "" "" "" "" "" "" "0" "" "" "" "" "00181011" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181012" "" "" "" "1" "" "02568" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Pat2" "00181063" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00226331" "" "" "" "2" "" "02588" "{PMID:Carlus 2019:30840296}" "2-generation family, proband and affected brother (04y), unaffected carrier mother (38y) and sister (01y) were heterozygous, father (41y) had probably sudden cardiac death" "-" "yes" "Saudi Arabia" "" "0" "" "" "" "30840296-proband-fam" "00263114" "" "" "" "1" "" "03400" "" "" "F" "" "China" "" "0" "" "" "" "" "00263115" "" "" "" "1" "" "03400" "" "" "F" "?" "China" "" "0" "" "" "" "" "00263116" "" "" "" "1" "" "03400" "" "" "F" "?" "China" "" "0" "" "" "" "" "00263117" "" "" "" "1" "" "03400" "" "" "M" "" "China" "" "0" "" "" "" "" "00263118" "" "" "" "1" "" "03400" "" "" "M" "" "China" "" "0" "" "" "" "" "00265256" "" "" "" "1" "" "03426" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00291833" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291834" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291835" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291836" "" "" "" "32" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291837" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291838" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291839" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291840" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295426" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295427" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305931" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "29" "00306126" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "59" "00314021" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314022" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00402910" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00410202" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat1" "00410203" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat3" "00410204" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat4" "00410205" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat5" "00410206" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat6" "00410207" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat7" "00410208" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat8" "00410209" "" "" "" "2" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat9" "00410210" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat10" "00410211" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Spain" "" "0" "" "" "" "Pat11" "00410212" "" "" "00410209" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "sibling" "" "" "Spain" "" "0" "" "" "" "Pat12" "00410216" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat13" "00410217" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "fraternal twin (twin has no variant)" "" "" "Spain" "" "0" "" "" "" "Pat14" "00410218" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat15" "00410219" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat16" "00410220" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat17" "00410221" "" "" "" "2" "" "00006" "{PMID:Merinero 2018:28755359}" "2-generation family, identical twins" "" "" "Spain" "" "0" "" "" "" "Pat18" "00410222" "" "" "00410221" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "ywin" "" "" "Spain" "" "0" "" "" "" "Pat19" "00410223" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat20" "00410224" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat21" "00410225" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat22" "00410226" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat23" "00410227" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat24" "00410228" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat25" "00410229" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat26" "00410230" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "Spain" "" "0" "" "" "" "Pat27" "00410231" "" "" "" "1" "" "00006" "{PMID:Merinero 2018:28755359}" "" "" "" "" "" "0" "" "" "" "Pat28" "00438395" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat114" "00441564" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "3702" "00446844" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "FamMPat143" "00446881" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "FamMPat160" "00452217" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452218" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452219" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452220" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452221" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452222" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452223" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452224" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452225" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452226" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452227" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00453603" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat19" "00453604" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat20" "00453605" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat21" "00453606" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat22" "00453607" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat23" "00453682" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat98" "00453683" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat99" "00453684" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat100" "00453685" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat101" "00453686" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat102" "00453687" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat103" "00453688" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat104" "00453689" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat105" "00453690" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat106" "00453691" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat107" "00453692" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat108" "00453693" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat109" "00457558" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat1" "00457559" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat2" "00457560" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat3" "00457561" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat4" "00457562" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat5" "00457578" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat7" "00457640" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat4" "00457641" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat5" "00457642" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat6" "00457643" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat7" "00457644" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat8" "00457645" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat9" "00457646" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat10" "00457647" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat11" "00457648" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat12" "00457649" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat13" "00457650" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat14" "00457651" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat15" "00470679" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat40" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 109 "{{individualid}}" "{{diseaseid}}" "00000012" "00138" "00000012" "05378" "00050400" "00198" "00080847" "01626" "00121387" "00318" "00132613" "01626" "00181011" "01626" "00181012" "01626" "00181063" "01626" "00226331" "00352" "00263114" "01626" "00263115" "01626" "00263116" "01626" "00263117" "01626" "00263118" "01626" "00265256" "01626" "00291833" "00198" "00291834" "00198" "00291835" "00198" "00291836" "00198" "00291837" "00198" "00291838" "00198" "00291839" "00198" "00291840" "00198" "00295426" "00198" "00295427" "00198" "00305931" "01626" "00306126" "01626" "00314021" "05126" "00314022" "05126" "00402910" "01626" "00410202" "01626" "00410203" "01626" "00410204" "01626" "00410205" "01626" "00410206" "01626" "00410207" "01626" "00410208" "01626" "00410209" "01626" "00410210" "01626" "00410211" "01626" "00410212" "01626" "00410216" "01626" "00410217" "01626" "00410218" "01626" "00410219" "01626" "00410220" "01626" "00410221" "01626" "00410222" "01626" "00410223" "01626" "00410224" "01626" "00410225" "01626" "00410226" "01626" "00410227" "01626" "00410228" "01626" "00410229" "01626" "00410230" "01626" "00410231" "01626" "00438395" "04270" "00441564" "05086" "00446844" "04173" "00446881" "04173" "00452217" "00198" "00452218" "00198" "00452219" "00198" "00452220" "00198" "00452221" "00198" "00452222" "00198" "00452223" "00198" "00452224" "00198" "00452225" "00198" "00452226" "00198" "00452227" "00198" "00453603" "02554" "00453604" "02554" "00453605" "02554" "00453606" "02554" "00453607" "02554" "00453682" "02554" "00453683" "02554" "00453684" "02554" "00453685" "02554" "00453686" "02554" "00453687" "02554" "00453688" "02554" "00453689" "02554" "00453690" "02554" "00453691" "02554" "00453692" "02554" "00453693" "02554" "00457558" "00198" "00457559" "00198" "00457560" "00198" "00457561" "00198" "00457562" "00198" "00457578" "00198" "00457640" "00198" "00457641" "00198" "00457642" "00198" "00457643" "00198" "00457644" "00198" "00457645" "00198" "00457646" "00198" "00457647" "00198" "00457648" "00198" "00457649" "00198" "00457650" "00198" "00457651" "00198" "00470679" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 00318, 00352, 01626, 02554, 04173, 04270, 05086, 05126, 05378, 07210 ## Count = 87 "{{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}}" "0000037012" "00198" "00050400" "00006" "Isolated (sporadic)" "" "progressive microcephaly, deeply set eye, palpebral edema, short nose, narrow mouth, depressed nasal bridge, full cheeks, small feet, short palm, abnormality of the tragus" "" "" "" "" "" "" "" "" "" "" "" "0000060416" "01626" "00080847" "01758" "Familial, autosomal recessive" "" "VLCAD deficiency (OMIM:201475)" "" "" "" "" "" "" "" "" "" "" "" "0000105380" "01626" "00132613" "00024" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143316" "01626" "00181063" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143396" "01626" "00181011" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143397" "01626" "00181012" "02568" "Familial, autosomal recessive" "00y18m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000171452" "00352" "00226331" "02588" "Familial, autosomal recessive" "06y" "cardiomegaly (HP:0001640); left ventricular hypertrophy (HP:0001712); left ventricular dysfunction (HP:0005162); severely reduced ejection fraction (HP:0012666); mitral regurgitation (HP:0001653); congestive heart failure, severe (HP:0001635)" "03y" "" "" "" "" "" "" "" "" "" "" "0000231781" "01626" "00305931" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231970" "01626" "00306126" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000302306" "01626" "00410202" "00006" "Familial, autosomal recessive" "5y6m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302307" "01626" "00410203" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., newborn screening, metabolic decompensation, hepatopathy, myopathy, hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302308" "01626" "00410204" "00006" "Familial, autosomal recessive" "4y6m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302309" "01626" "00410205" "00006" "Familial, autosomal recessive" "14m" "see paper; ..., newborn screening, asymptomatic; 15d-infections; 14m-paroxysmal supraventricular tachycardia" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302310" "01626" "00410206" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302311" "01626" "00410207" "00006" "Familial, autosomal recessive" "5y6m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302312" "01626" "00410208" "00006" "Familial, autosomal recessive" "4y6m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302313" "01626" "00410209" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302314" "01626" "00410210" "00006" "Familial, autosomal recessive" "5y6m" "see paper; ..., newborn screening, metabolic decompensation" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302315" "01626" "00410211" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., newborn screening, asymptomatic, infections" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302316" "01626" "00410212" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "very long chain acyl-CoA dehydrogenase deficiency" "" "0000302320" "01626" "00410216" "00006" "Unknown" "4y" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302321" "01626" "00410217" "00006" "Unknown" "12m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302322" "01626" "00410218" "00006" "Unknown" "21m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302323" "01626" "00410219" "00006" "Unknown" "4y" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302324" "01626" "00410220" "00006" "Unknown" "3y" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302325" "01626" "00410221" "00006" "Unknown" "12m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302326" "01626" "00410222" "00006" "Unknown" "12m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302327" "01626" "00410223" "00006" "Unknown" "2y6m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302328" "01626" "00410224" "00006" "Unknown" "4y6m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302329" "01626" "00410225" "00006" "Unknown" "17m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302330" "01626" "00410226" "00006" "Unknown" "2y6m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302331" "01626" "00410227" "00006" "Unknown" "14m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302332" "01626" "00410228" "00006" "Unknown" "14m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302333" "01626" "00410229" "00006" "Unknown" "20m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302334" "01626" "00410230" "00006" "Unknown" "13m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000302335" "01626" "00410231" "00006" "Unknown" "21m" "see paper; ..., newborn screening, asymptomatic" "" "" "" "" "" "" "" "" "" "suspected very long chain acyl-CoA dehydrogenase deficiency" "" "0000328299" "04270" "00438395" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0000496 abnormality of eye movement; HP:0001281 tetany; HP:0001943 hypoglycemia; HP:0002151 increased serum lactate; HP:0007185 loss of consciousness" "83d" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330992" "05086" "00441564" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "simplex autosomal recessive hearing loss" "" "0000336048" "04173" "00446844" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336085" "04173" "00446881" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000340820" "00198" "00452217" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340821" "00198" "00452218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340822" "00198" "00452219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340823" "00198" "00452220" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340824" "00198" "00452221" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340825" "00198" "00452222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340826" "00198" "00452223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340827" "00198" "00452224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340828" "00198" "00452225" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340829" "00198" "00452226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000340830" "00198" "00452227" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ACADVLD" "very long chain acyl-coa dehydrogenase deficiency" "" "0000342260" "02554" "00453603" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADVLD" "inborn error of metabolism" "" "0000342261" "02554" "00453604" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADVLD" "inborn error of metabolism" "" "0000342262" "02554" "00453605" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADVLD" "inborn error of metabolism" "" "0000342263" "02554" "00453606" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADVLD" "inborn error of metabolism" "" "0000342264" "02554" "00453607" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "ACADVLD" "inborn error of metabolism" "" "0000342339" "02554" "00453682" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342340" "02554" "00453683" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342341" "02554" "00453684" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342342" "02554" "00453685" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342343" "02554" "00453686" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342344" "02554" "00453687" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342345" "02554" "00453688" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342346" "02554" "00453689" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342347" "02554" "00453690" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342348" "02554" "00453691" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342349" "02554" "00453692" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342350" "02554" "00453693" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000346022" "00198" "00457558" "00006" "Familial, autosomal recessive" "3.7y" "newborn screening; recurrent rhabdomyolysis and hypertrophic cardiomyopathy after 7 months old" "" "39d" "" "" "" "" "" "" "ACADVLD" "newborn screening" "" "0000346023" "00198" "00457559" "00006" "Familial, autosomal recessive" "5.8y" "newborn screening; recurrent rhabdomyolysis after 11 months" "" "33d" "" "" "" "" "" "" "ACADVLD" "newborn screening" "" "0000346024" "00198" "00457560" "00006" "Familial, autosomal recessive" "10m" "newborn screening; hypertrophic cardiomyopathy" "" "25d" "" "" "" "" "" "" "ACADVLD" "newborn screening" "" "0000346025" "00198" "00457561" "00006" "Familial, autosomal recessive" "3.3y" "newborn screening; 1 episode of rhabdomyolysis" "" "49d" "" "" "" "" "" "" "ACADVLD" "newborn screening" "" "0000346026" "00198" "00457562" "00006" "Unknown" "2y" "newborn screening; asymptomatic" "" "48d" "" "" "" "" "" "" "" "newborn screening" "" "0000346042" "00198" "00457578" "00006" "Familial, autosomal recessive" "3.9y" "hypertrophic cardiomyopathy, recurrent rhabdomyolysis" "" "2m" "" "" "" "" "" "" "ACADVLD" "fatty acid oxidation disorder" "" "0000346099" "00198" "00457640" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., exercise intolerance, muscle pain; abnormal muscle power during neurological exam, positive Gowers sign" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346100" "00198" "00457641" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., no muscular symptoms; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346101" "00198" "00457642" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., exercise intolerance, muscle pain; abnormal muscle power during neurological exam, limb-girdle weakness MRC grade 4" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346102" "00198" "00457643" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., exercise intolerance, muscle pain; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346103" "00198" "00457644" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., exercise intolerance, muscle pain; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346104" "00198" "00457645" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., exercise intolerance, muscle pain; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346105" "00198" "00457646" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., no muscular symptoms; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346106" "00198" "00457647" "00006" "Familial, autosomal recessive" "32y" "see paper; ..., muscle pain; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346107" "00198" "00457648" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., exercise intolerance, muscle pain; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346108" "00198" "00457649" "00006" "Familial, autosomal recessive" "36y" "see paper; ..., no muscular symptoms; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346109" "00198" "00457650" "00006" "Familial, autosomal recessive" "40y" "see paper; ..., exercise intolerance, muscle pain; normal muscle power during neurological exam" "4.7y" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000346110" "00198" "00457651" "00006" "Familial, autosomal recessive" "41y" "see paper; ..., no muscular symptoms; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "ACADVLD" "long-chain fatty acid oxidation disorder" "" "0000355573" "07210" "00470679" "00006" "Isolated (sporadic)" "11y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 117 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000012" "00000012" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000055" "00000055" "1" "00004" "" "2012-05-11 13:18:51" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000034703" "00034633" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034704" "00034634" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034705" "00034635" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034706" "00034636" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034707" "00034637" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034708" "00034638" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034709" "00034639" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034710" "00034640" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050345" "00050400" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080959" "00080847" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000121995" "00121387" "1" "01873" "01873" "2017-07-21 18:07:10" "" "" "SEQ" "DNA" "" "" "0000133446" "00132613" "1" "00024" "00024" "2017-10-27 17:34:39" "" "" "SEQ-NG" "DNA" "" "" "0000181958" "00181011" "1" "02568" "02568" "2018-09-20 17:15:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000181959" "00181012" "1" "02568" "02568" "2018-09-20 17:23:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000182011" "00181063" "1" "02568" "02568" "2018-09-21 14:58:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000227407" "00226331" "1" "02588" "02588" "2019-03-08 12:44:14" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "" "0000264220" "00263114" "1" "03400" "03400" "2019-08-22 13:42:40" "" "" "SEQ" "DNA" "" "" "0000264221" "00263116" "1" "03400" "03400" "2019-08-22 13:55:38" "" "" "SEQ" "DNA" "" "" "0000264222" "00263117" "1" "03400" "03400" "2019-08-22 13:59:28" "" "" "SEQ" "DNA" "" "" "0000264223" "00263115" "1" "03400" "03400" "2019-08-22 14:37:30" "" "" "SEQ" "DNA" "" "" "0000264224" "00263118" "1" "03400" "03400" "2019-08-22 14:43:46" "" "" "SEQ" "DNA" "" "" "0000266375" "00265256" "1" "03426" "03426" "2019-09-18 10:43:03" "" "" "SEQ-NG-IT" "DNA" "" "" "0000293001" "00291833" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293002" "00291834" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293003" "00291835" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293004" "00291836" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293005" "00291837" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293006" "00291838" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293007" "00291839" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293008" "00291840" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296594" "00295426" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296595" "00295427" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307062" "00305931" "1" "03695" "03695" "2020-07-05 19:50:15" "" "" "SEQ-NG" "DNA" "" "" "0000307257" "00306126" "1" "03695" "03695" "2020-07-08 16:52:23" "" "" "SEQ-NG" "DNA" "" "" "0000315194" "00314021" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315195" "00314022" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404151" "00402910" "1" "01741" "01741" "2022-02-14 11:33:59" "" "" "SEQ" "DNA" "" "" "0000411465" "00410202" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411466" "00410203" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411467" "00410204" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411468" "00410205" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411469" "00410206" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411470" "00410207" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411471" "00410208" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411472" "00410209" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411473" "00410210" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411474" "00410211" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411475" "00410212" "1" "00006" "00006" "2022-05-20 14:41:28" "" "" "SEQ" "DNA" "" "" "0000411479" "00410216" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411480" "00410217" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411481" "00410218" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411482" "00410219" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411483" "00410220" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411484" "00410221" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411485" "00410222" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411486" "00410223" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411487" "00410224" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411488" "00410225" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411489" "00410226" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411490" "00410227" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411491" "00410228" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411492" "00410229" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411493" "00410230" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000411494" "00410231" "1" "00006" "00006" "2022-05-20 15:14:42" "" "" "SEQ" "DNA" "" "" "0000439877" "00438395" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443050" "00441564" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448419" "00446844" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448456" "00446881" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000453819" "00452217" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453820" "00452218" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453821" "00452219" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453822" "00452220" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453823" "00452221" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453824" "00452222" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453825" "00452223" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453826" "00452224" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453827" "00452225" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453828" "00452226" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453829" "00452227" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455215" "00453603" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455216" "00453604" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455217" "00453605" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455218" "00453606" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455219" "00453607" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455294" "00453682" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455295" "00453683" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455296" "00453684" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455297" "00453685" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455298" "00453686" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455299" "00453687" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455300" "00453688" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455301" "00453689" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455302" "00453690" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455303" "00453691" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455304" "00453692" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455305" "00453693" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000459178" "00457558" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459179" "00457559" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459180" "00457560" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459181" "00457561" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459182" "00457562" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "plasma" "0000459198" "00457578" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459260" "00457640" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459261" "00457641" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459262" "00457642" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459263" "00457643" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459264" "00457644" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459265" "00457645" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459266" "00457646" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459267" "00457647" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459268" "00457648" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459269" "00457649" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459270" "00457650" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459271" "00457651" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000472346" "00470679" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 110 "{{screeningid}}" "{{geneid}}" "0000000012" "ACADVL" "0000000012" "ADA" "0000000012" "AGL" "0000000012" "ATP7B" "0000000012" "CYP21A2" "0000000012" "DPYD" "0000000012" "ETFB" "0000000012" "GBA" "0000000012" "HGSNAT" "0000000012" "IGHMBP2" "0000000012" "LAMA2" "0000000012" "MYO5A" "0000000012" "NHLRC1" "0000000012" "NPHS1" "0000000012" "SERPINA1" "0000000012" "SLC26A2" "0000000055" "ACADVL" "0000000055" "AGXT" "0000000055" "ATP7B" "0000000055" "DPYD" "0000000055" "ETFB" "0000000055" "GLB1" "0000000055" "HBB" "0000000055" "MYO5A" "0000000055" "NHLRC1" "0000000055" "NPHS1" "0000000055" "SERPINA1" "0000034703" "ACADVL" "0000034704" "ACADVL" "0000034705" "ACADVL" "0000034706" "ACADVL" "0000034707" "ACADVL" "0000034708" "ACADVL" "0000034709" "ACADVL" "0000034710" "ACADVL" "0000080959" "ACADVL" "0000121995" "BRCA1" "0000121995" "BRCA2" "0000133446" "ACADVL" "0000181958" "ACADVL" "0000181959" "ACADVL" "0000182011" "ACADVL" "0000227407" "ACADVL" "0000264220" "ACADVL" "0000264221" "ACADVL" "0000264222" "ACADVL" "0000264223" "ACADVL" "0000264224" "ACADVL" "0000266375" "ACADVL" "0000307062" "ACADVL" "0000307257" "ACADVL" "0000315194" "ACADVL" "0000315195" "ACADVL" "0000404151" "ACADVL" "0000411465" "ACADVL" "0000411466" "ACADVL" "0000411467" "ACADVL" "0000411468" "ACADVL" "0000411469" "ACADVL" "0000411470" "ACADVL" "0000411471" "ACADVL" "0000411472" "ACADVL" "0000411473" "ACADVL" "0000411474" "ACADVL" "0000411475" "ACADVL" "0000411479" "ACADVL" "0000411480" "ACADVL" "0000411481" "ACADVL" "0000411482" "ACADVL" "0000411483" "ACADVL" "0000411484" "ACADVL" "0000411485" "ACADVL" "0000411486" "ACADVL" "0000411487" "ACADVL" "0000411488" "ACADVL" "0000411489" "ACADVL" "0000411490" "ACADVL" "0000411491" "ACADVL" "0000411492" "ACADVL" "0000411493" "ACADVL" "0000411494" "ACADVL" "0000453819" "ACADVL" "0000453820" "ACADVL" "0000453821" "ACADVL" "0000453822" "ACADVL" "0000453823" "ACADVL" "0000453824" "ACADVL" "0000453825" "ACADVL" "0000453826" "ACADVL" "0000453827" "ACADVL" "0000453828" "ACADVL" "0000453829" "ACADVL" "0000459178" "ACADVL" "0000459179" "ACADVL" "0000459180" "ACADVL" "0000459181" "ACADVL" "0000459182" "ACADVL" "0000459198" "ACADVL" "0000459260" "ACADVL" "0000459261" "ACADVL" "0000459262" "ACADVL" "0000459263" "ACADVL" "0000459264" "ACADVL" "0000459265" "ACADVL" "0000459266" "ACADVL" "0000459267" "ACADVL" "0000459268" "ACADVL" "0000459269" "ACADVL" "0000459270" "ACADVL" "0000459271" "ACADVL" ## 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 = 258 "{{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}}" "0000000643" "0" "50" "17" "7125608" "7125608" "subst" "0.000109686" "00002" "ACADVL_000001" "g.7125608G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7222289G>A" "" "VUS" "" "0000000644" "0" "50" "17" "7127707" "7127707" "subst" "0.00194394" "00002" "ACADVL_000002" "g.7127707G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7224388G>A" "" "VUS" "" "0000061822" "1" "50" "17" "7126184" "7126184" "subst" "1.22552E-5" "01164" "ACADVL_000007" "g.7126184G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7222865G>A" "" "VUS" "" "0000061823" "1" "90" "17" "7127049" "7127049" "subst" "0" "01164" "ACADVL_000003" "g.7127049G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7223730G>C" "" "pathogenic" "" "0000061824" "1" "90" "17" "7127184" "7127184" "subst" "2.43748E-5" "01164" "ACADVL_000004" "g.7127184G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7223865G>A" "" "pathogenic" "" "0000061825" "1" "90" "17" "7127303" "7127303" "subst" "2.4374E-5" "01164" "ACADVL_000005" "g.7127303G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7223984G>A" "" "pathogenic" "" "0000061826" "1" "10" "17" "7127718" "7127718" "subst" "0.599518" "01164" "ACADVL_000006" "g.7127718T>C" "Frequency up to 60%" "" "" "" "" "Germline" "" "rs17671352" "0" "" "" "g.7224399T>C" "" "benign" "" "0000061827" "1" "50" "17" "7124093" "7124093" "subst" "0.000117764" "01164" "ACADVL_000009" "g.7124093G>A" "" "" "" "" "Alamut:Polyphen benign PSIC score 0,410" "Germline" "" "rs139427392" "0" "" "" "g.7220774G>A" "" "VUS" "" "0000061828" "1" "50" "17" "7123241" "7123255" "dup" "0" "01164" "ACADVL_000008" "g.7123241_7123255dup" "" "" "" "" "" "Germline" "" "rs6145976" "0" "" "" "g.7219922_7219936dup" "" "VUS" "" "0000061829" "1" "90" "17" "7125591" "7125591" "subst" "0.00127919" "01164" "ACADVL_000010" "g.7125591T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "pathogenic" "" "0000079325" "0" "90" "17" "6995688" "7232433" "del" "0" "00006" "ACADVL_000011" "g.6995688_7232433del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.7092369_7329114del" "" "pathogenic" "" "0000130045" "3" "70" "17" "7124325" "7124325" "subst" "0" "01758" "ACADVL_000012" "g.7124325T>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.7221006T>C" "" "likely pathogenic" "" "0000196642" "0" "10" "17" "41276247" "41276247" "subst" "0" "01873" "ACADVL_000013" "g.41276247A>G" "728/1900 cases" "" "" "-19-115T>C" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs3765640" "0" "" "" "g.40810575A>G" "" "benign" "" "0000222659" "0" "70" "17" "7124983" "7124983" "subst" "0" "00024" "ACADVL_000014" "g.7124983C>G" "" "" "" "" "this variant is not yet published" "Germline" "yes" "" "0" "" "" "g.7221664C>G" "" "likely pathogenic" "" "0000258875" "0" "10" "17" "7127718" "7127718" "subst" "0.599518" "02325" "ACADVL_000006" "g.7127718T>C" "" "" "" "ACADVL(NM_001270448.2):c.1377+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7224399T>C" "" "benign" "" "0000260480" "0" "30" "17" "7127402" "7127402" "subst" "0.00131576" "02326" "ACADVL_000017" "g.7127402T>A" "" "" "" "ACADVL(NM_001270448.1):c.1206+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7224083T>A" "" "likely benign" "" "0000260481" "0" "30" "17" "7127462" "7127462" "subst" "0" "02326" "ACADVL_000018" "g.7127462T>C" "" "" "" "ACADVL(NM_001270448.1):c.1207-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7224143T>C" "" "likely benign" "" "0000260482" "0" "30" "17" "7128292" "7128292" "subst" "0.00281655" "02326" "ACADVL_000020" "g.7128292G>A" "" "" "" "ACADVL(NM_000018.3):c.1844G>A (p.(Arg615Gln)), ACADVL(NM_001270448.1):c.1616G>A (p.R539Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7224973G>A" "" "likely benign" "" "0000260483" "0" "30" "17" "7124768" "7124768" "subst" "0" "02326" "ACADVL_000015" "g.7124768T>C" "" "" "" "ACADVL(NM_001270448.1):c.250-89T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7221449T>C" "" "likely benign" "" "0000261761" "0" "30" "17" "7120487" "7120487" "subst" "0" "01943" "ACADVL_000069" "g.7120487C>T" "" "" "" "ACADVL(NM_001270447.1):c.23C>T (p.A8V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7217168C>T" "" "likely benign" "" "0000261762" "0" "10" "17" "7125341" "7125341" "subst" "0.00188419" "01943" "ACADVL_000016" "g.7125341T>A" "" "" "" "ACADVL(NM_001270448.1):c.465T>A (p.S155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7222022T>A" "" "benign" "" "0000325141" "0" "50" "17" "7107348" "7107348" "subst" "0" "01804" "DLG4_000006" "g.7107348G>T" "" "" "" "DLG4(NM_001128827.1):c.180C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7204029G>T" "" "VUS" "" "0000325142" "0" "50" "17" "7107349" "7107349" "subst" "0" "01804" "DLG4_000007" "g.7107349T>A" "" "" "" "DLG4(NM_001128827.1):c.179A>T (p.(Tyr60Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7204030T>A" "" "VUS" "" "0000325145" "0" "50" "17" "7127568" "7127568" "subst" "0" "01804" "ACADVL_000019" "g.7127568C>T" "" "" "" "ACADVL(NM_000018.3):c.1532+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7224249C>T" "" "VUS" "" "0000338973" "0" "90" "17" "7125494" "7125494" "subst" "4.06062E-6" "02327" "ACADVL_000022" "g.7125494A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7222175A>C" "" "pathogenic" "" "0000342708" "0" "70" "17" "7100234" "7100234" "subst" "0" "02327" "DLG4_000013" "g.7100234G>A" "" "" "" "DLG4(NM_001365.3):c.1054C>T (p.(Arg352Ter)), DLG4(NM_001365.4):c.1054C>T (p.R352*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7196915G>A" "" "likely pathogenic" "" "0000342851" "0" "50" "17" "7099876" "7099876" "subst" "0" "02327" "DLG4_000012" "g.7099876G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7196557G>A" "" "VUS" "" "0000343106" "0" "30" "17" "7123473" "7123473" "subst" "7.21959E-6" "02327" "ACADVL_000021" "g.7123473G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7220154G>A" "" "likely benign" "" "0000343222" "0" "70" "17" "7096281" "7096281" "subst" "0" "02327" "DLG4_000011" "g.7096281G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7192962G>A" "" "likely pathogenic" "" "0000344566" "0" "70" "17" "7107027" "7107027" "subst" "0" "02327" "DLG4_000014" "g.7107027G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7203708G>A" "" "likely pathogenic" "" "0000405742" "11" "90" "17" "7123843" "7123843" "subst" "0" "02568" "ACADVL_000023" "g.7123843A>T" "" "" "" "Lys67Ter" "" "Germline" "yes" "" "0" "" "" "g.7220524A>T" "" "pathogenic" "" "0000405743" "21" "70" "17" "7126495" "7126495" "subst" "0" "02568" "ACADVL_000024" "g.7126495A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7223176A>C" "" "likely pathogenic" "" "0000405744" "21" "70" "17" "7126548" "7126548" "subst" "4.06065E-6" "02568" "ACADVL_000025" "g.7126548G>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7223229G>C" "" "likely pathogenic" "" "0000405745" "11" "90" "17" "7128126" "7128131" "del" "0" "02568" "ACADVL_000027" "g.7128126_7128131del" "" "{PMID:Merinero 2018:28755359}" "" "1752-2_1755del6" "" "Germline" "yes" "" "0" "" "" "g.7224807_7224812del" "" "pathogenic" "" "0000405822" "0" "50" "17" "7127184" "7127184" "subst" "4.06246E-6" "02568" "ACADVL_000026" "g.7127184G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7223865G>C" "" "VUS" "" "0000465648" "3" "70" "17" "7127303" "7127303" "subst" "2.4374E-5" "02588" "ACADVL_000005" "g.7127303G>A" "" "{PMID:Carlus 2019:30840296}" "" "(chr17:7127303; G>A)" "variant not found in 57 control subjects and 48 DCM cases" "Germline" "" "rs118204016" "0" "" "" "g.7223984G>A" "" "pathogenic (recessive)" "" "0000562912" "0" "50" "17" "7096822" "7096822" "subst" "0" "02327" "DLG4_000018" "g.7096822T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7193503T>C" "" "VUS" "" "0000562913" "0" "70" "17" "7097309" "7097309" "subst" "0" "02327" "DLG4_000019" "g.7097309G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7193990G>A" "" "likely pathogenic" "" "0000562914" "0" "70" "17" "7097312" "7097312" "subst" "0" "02327" "DLG4_000020" "g.7097312G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7193993G>A" "" "likely pathogenic" "" "0000562915" "0" "50" "17" "7097731" "7097731" "subst" "0" "02325" "DLG4_000021" "g.7097731A>T" "" "" "" "DLG4(NM_001365.4):c.1514T>A (p.V505D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7194412A>T" "" "VUS" "" "0000562916" "0" "90" "17" "7099645" "7099645" "subst" "0" "02325" "DLG4_000022" "g.7099645G>A" "" "" "" "DLG4(NM_001365.4):c.1324C>T (p.R442*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7196326G>A" "" "pathogenic" "" "0000562917" "0" "50" "17" "7100234" "7100234" "subst" "0" "01804" "DLG4_000013" "g.7100234G>A" "" "" "" "DLG4(NM_001365.3):c.1054C>T (p.(Arg352Ter)), DLG4(NM_001365.4):c.1054C>T (p.R352*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7196915G>A" "" "VUS" "" "0000562918" "0" "50" "17" "7107367" "7107367" "subst" "0.000662746" "02325" "DLG4_000008" "g.7107367G>A" "" "" "" "DLG4(NM_001365.4):c.299C>T (p.T100I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7204048G>A" "" "VUS" "" "0000562933" "0" "50" "17" "7123443" "7123443" "subst" "0.000119036" "01804" "DLG4_000023" "g.7123443C>T" "" "" "" "ACADVL(NM_000018.3):c.65C>T (p.S22L, p.(Ser22Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7220124C>T" "" "VUS" "" "0000562934" "0" "90" "17" "7123482" "7123482" "del" "0" "01804" "DLG4_000024" "g.7123482del" "" "" "" "ACADVL(NM_000018.3):c.104delC (p.P35Lfs*26), ACADVL(NM_000018.4):c.104del (p.(Pro35Leufs*26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7220163del" "" "pathogenic" "" "0000562935" "0" "50" "17" "7123781" "7123781" "subst" "0" "01943" "DLG4_000025" "g.7123781A>T" "" "" "" "ACADVL(NM_001270448.1):c.-90-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7220462A>T" "" "VUS" "" "0000562937" "0" "10" "17" "7123838" "7123838" "subst" "0.00799961" "02326" "DLG4_000026" "g.7123838C>T" "" "" "" "ACADVL(NM_000018.4):c.194C>T (p.P65L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7220519C>T" "" "benign" "" "0000562938" "0" "30" "17" "7124751" "7124751" "subst" "0" "02326" "DLG4_000027" "g.7124751T>C" "" "" "" "ACADVL(NM_001270448.1):c.250-106T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7221432T>C" "" "likely benign" "" "0000562939" "0" "30" "17" "7124859" "7124859" "subst" "4.06101E-5" "01943" "DLG4_000028" "g.7124859C>T" "" "" "" "ACADVL(NM_001270448.1):c.252C>T (p.Y84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7221540C>T" "" "likely benign" "" "0000562940" "0" "30" "17" "7124874" "7124874" "subst" "6.9035E-5" "01943" "DLG4_000029" "g.7124874G>A" "" "" "" "ACADVL(NM_001270448.1):c.267G>A (p.E89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7221555G>A" "" "likely benign" "" "0000562941" "0" "50" "17" "7125591" "7125591" "subst" "0.00127919" "01943" "ACADVL_000010" "g.7125591T>C" "" "" "" "ACADVL(NM_001270448.1):c.620T>C (p.V207A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7222272T>C" "" "VUS" "" "0000562942" "0" "90" "17" "7125591" "7125591" "subst" "0.00127919" "02327" "ACADVL_000010" "g.7125591T>C" "" "" "" "ACADVL(NM_001270448.1):c.620T>C (p.V207A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7222272T>C" "" "pathogenic" "" "0000562945" "0" "90" "17" "7127184" "7127184" "subst" "2.43748E-5" "02327" "ACADVL_000004" "g.7127184G>A" "" "" "" "ACADVL(NM_000018.4):c.1322G>A (p.(Gly441Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7223865G>A" "" "pathogenic" "" "0000562946" "0" "70" "17" "7127320" "7127320" "subst" "0" "02327" "DLG4_000032" "g.7127320C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7224001C>G" "" "likely pathogenic" "" "0000562947" "0" "10" "17" "7127718" "7127718" "subst" "0.599518" "02327" "ACADVL_000006" "g.7127718T>C" "" "" "" "ACADVL(NM_001270448.2):c.1377+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7224399T>C" "" "benign" "" "0000562948" "0" "70" "17" "7127982" "7127982" "subst" "0.000104078" "02327" "DLG4_000033" "g.7127982G>A" "" "" "" "ACADVL(NM_001270448.1):c.1472G>A (p.R491Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7224663G>A" "" "likely pathogenic" "" "0000562949" "0" "30" "17" "7128287" "7128287" "subst" "0.00053249" "01943" "DLG4_000034" "g.7128287G>A" "" "" "" "ACADVL(NM_001270448.1):c.1611G>A (p.R537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7224968G>A" "" "likely benign" "" "0000562950" "0" "30" "17" "7128292" "7128292" "subst" "0.00281655" "01943" "ACADVL_000020" "g.7128292G>A" "" "" "" "ACADVL(NM_000018.3):c.1844G>A (p.(Arg615Gln)), ACADVL(NM_001270448.1):c.1616G>A (p.R539Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7224973G>A" "" "likely benign" "" "0000562951" "0" "30" "17" "7129515" "7129515" "subst" "5.78675E-5" "01804" "DLG4_000035" "g.7129515C>T" "" "" "" "DVL2(NM_004422.2):c.1880G>A (p.(Arg627Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7226196C>T" "" "likely benign" "" "0000562952" "0" "30" "17" "7132292" "7132292" "subst" "0" "01804" "DLG4_000036" "g.7132292G>C" "" "" "" "DVL2(NM_004422.2):c.1030C>G (p.(Pro344Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7228973G>C" "" "likely benign" "" "0000562953" "0" "30" "17" "7132774" "7132774" "subst" "0.000154795" "01804" "DLG4_000037" "g.7132774G>A" "" "" "" "DVL2(NM_004422.2):c.748-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7229455G>A" "" "likely benign" "" "0000593818" "0" "90" "17" "7126002" "7126002" "subst" "0" "03400" "ACADVL_000028" "g.7126002A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7222683A>G" "" "pathogenic (recessive)" "" "0000593819" "0" "90" "17" "7127018" "7127018" "subst" "4.06065E-6" "03400" "ACADVL_000029" "g.7127018T>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.7223699T>C" "" "pathogenic (recessive)" "" "0000593820" "0" "90" "17" "7124920" "7124920" "subst" "4.06078E-6" "03400" "ACADVL_000035" "g.7124920C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7221601C>T" "" "pathogenic (recessive)" "" "0000593821" "0" "90" "17" "7126527" "7126527" "subst" "3.65456E-5" "03400" "ACADVL_000034" "g.7126527C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7223208C>T" "" "pathogenic (recessive)" "" "0000593822" "0" "90" "17" "7125606" "7125606" "subst" "8.12334E-6" "03400" "ACADVL_000036" "g.7125606T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7222287T>G" "" "pathogenic (recessive)" "" "0000593823" "0" "90" "17" "7125622" "7125622" "subst" "8.13048E-6" "03400" "ACADVL_000037" "g.7125622G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7222303G>C" "" "pathogenic (recessive)" "" "0000593824" "0" "90" "17" "7127138" "7127138" "subst" "0" "03400" "ACADVL_000030" "g.7127138G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7223819G>A" "" "pathogenic (recessive)" "" "0000593825" "0" "90" "17" "7127320" "7127320" "subst" "0" "03400" "ACADVL_000031" "g.7127320C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7224001C>T" "" "pathogenic" "" "0000593826" "0" "90" "17" "7127142" "7127142" "subst" "0" "03400" "ACADVL_000032" "g.7127142G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7223823G>A" "" "pathogenic (recessive)" "" "0000593827" "0" "90" "17" "7127535" "7127535" "subst" "0" "03400" "ACADVL_000033" "g.7127535T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7224216T>A" "" "pathogenic (recessive)" "" "0000597038" "10" "70" "17" "7127299" "7127299" "subst" "4.0625E-6" "03426" "ACADVL_000039" "g.7127299G>C" "" "" "" "" "inferred in trans with c.520G>A" "Germline" "" "" "0" "" "" "g.7223980G>C" "{CV-RCV:000077904.4}" "likely pathogenic" "" "0000597039" "20" "70" "17" "7124899" "7124899" "subst" "4.46686E-5" "03426" "ACADVL_000038" "g.7124899G>A" "" "" "" "" "inferred in trans with c.1345G>C" "Germline" "" "" "0" "" "" "g.7221580G>A" "{CV-RCV:000179696.6}" "likely pathogenic" "" "0000616788" "0" "10" "17" "7121105" "7121105" "subst" "0.0237277" "02327" "DLG4_000039" "g.7121105C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7217786C>A" "" "benign" "" "0000616789" "0" "30" "17" "7123492" "7123492" "subst" "5.47285E-5" "02327" "DLG4_000040" "g.7123492G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7220173G>C" "" "likely benign" "" "0000616790" "0" "30" "17" "7123842" "7123842" "subst" "0" "02327" "DLG4_000041" "g.7123842C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7220523C>G" "" "likely benign" "" "0000616791" "0" "30" "17" "7127673" "7127673" "subst" "3.25826E-5" "02327" "DLG4_000045" "g.7127673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7224354C>T" "" "likely benign" "" "0000616792" "0" "50" "17" "7127698" "7127698" "subst" "0.000448244" "02325" "DLG4_000046" "g.7127698C>T" "" "" "" "ACADVL(NM_000018.4):c.1591C>T (p.(Arg531Trp), p.R531W), ACADVL(NM_001270448.1):c.1363C>T (p.R455W), ACADVL(NM_001270448.2):c.1363C>T (p.R455W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7224379C>T" "" "VUS" "" "0000623755" "0" "90" "17" "7125522" "7125522" "subst" "2.03034E-5" "02325" "DLG4_000042" "g.7125522C>T" "" "" "" "ACADVL(NM_000018.4):c.779C>T (p.(Thr260Met)), ACADVL(NM_001270448.2):c.551C>T (p.T184M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7222203C>T" "" "pathogenic" "" "0000623756" "0" "30" "17" "7125567" "7125567" "subst" "0" "01943" "DLG4_000043" "g.7125567T>C" "" "" "" "ACADVL(NM_001270448.1):c.596T>C (p.V199A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7222248T>C" "" "likely benign" "" "0000623757" "0" "30" "17" "7127146" "7127146" "subst" "0.000755342" "01943" "DLG4_000044" "g.7127146G>A" "" "" "" "ACADVL(NM_001270448.1):c.1056G>A (p.K352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7223827G>A" "" "likely benign" "" "0000649690" "1" "50" "17" "7124327" "7124327" "subst" "0" "03575" "ACADVL_000041" "g.7124327G>T" "1/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727773.1}" "Germline" "" "rs794727773" "0" "" "" "g.7221008G>T" "" "VUS" "" "0000649691" "1" "50" "17" "7125285" "7125285" "subst" "8.12519E-6" "03575" "ACADVL_000042" "g.7125285G>C" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs140629318}" "Germline" "" "rs140629318" "0" "" "" "g.7221966G>C" "" "VUS" "" "0000649692" "1" "70" "17" "7125312" "7125312" "subst" "8.12255E-6" "03575" "ACADVL_000043" "g.7125312G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs398123091}" "Germline" "" "rs398123091" "0" "" "" "g.7221993G>A" "" "likely pathogenic" "" "0000649693" "1" "50" "17" "7125572" "7125574" "del" "0" "03575" "ACADVL_000044" "g.7125572_7125574del" "32/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 32 heterozygous, no homozygous; {DB:CLININrs796051913}" "Germline" "" "rs796051913" "0" "" "" "g.7222253_7222255del" "" "VUS" "" "0000649694" "1" "70" "17" "7125994" "7125995" "del" "4.07751E-6" "03575" "ACADVL_000045" "g.7125994_7125995del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs753108198}" "Germline" "" "rs753108198" "0" "" "" "g.7222675_7222676del" "" "likely pathogenic" "" "0000649695" "1" "50" "17" "7127006" "7127006" "subst" "5.68491E-5" "03575" "ACADVL_000047" "g.7127006C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs113994169}" "Germline" "" "rs113994169" "0" "" "" "g.7223687C>T" "" "VUS" "" "0000649696" "1" "70" "17" "7127330" "7127330" "subst" "2.43683E-5" "03575" "ACADVL_000048" "g.7127330G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs751995154}" "Germline" "" "rs751995154" "0" "" "" "g.7224011G>A" "" "likely pathogenic" "" "0000649697" "1" "70" "17" "7128285" "7128285" "subst" "4.47162E-5" "03575" "ACADVL_000049" "g.7128285C>T" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs118204014}" "Germline" "" "rs118204014" "0" "" "" "g.7224966C>T" "" "likely pathogenic" "" "0000653283" "1" "70" "17" "7124243" "7124243" "del" "0" "03575" "ACADVL_000040" "g.7124243del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387906249}" "Germline" "" "rs387906249" "0" "" "" "g.7220924del" "" "likely pathogenic" "" "0000653284" "1" "50" "17" "7125997" "7126005" "del" "0" "03575" "ACADVL_000046" "g.7125997_7126005del" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs387906252}" "Germline" "" "rs387906252" "0" "" "" "g.7222678_7222686del" "" "VUS" "" "0000658243" "0" "50" "17" "7127985" "7127985" "subst" "0" "02327" "DLG4_000047" "g.7127985T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7224666T>C" "" "VUS" "" "0000673602" "2" "70" "17" "7123946" "7123949" "dup" "0" "03695" "ACADVL_000050" "g.7123946_7123949dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000673603" "2" "70" "17" "7125622" "7125622" "subst" "8.13048E-6" "03695" "ACADVL_000037" "g.7125622G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673847" "0" "90" "17" "7127142" "7127142" "subst" "0" "03695" "ACADVL_000032" "g.7127142G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000673848" "0" "70" "17" "7127535" "7127535" "subst" "0" "03695" "ACADVL_000033" "g.7127535T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680999" "0" "70" "17" "7097008" "7097008" "subst" "0" "02327" "DLG4_000048" "g.7097008G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681000" "0" "30" "17" "7128292" "7128292" "subst" "0.00281655" "01804" "ACADVL_000020" "g.7128292G>A" "" "" "" "ACADVL(NM_000018.3):c.1844G>A (p.(Arg615Gln)), ACADVL(NM_001270448.1):c.1616G>A (p.R539Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692454" "0" "30" "17" "7123506" "7123506" "subst" "0.036358" "01804" "DLG4_000049" "g.7123506G>A" "" "" "" "ACADVL(NM_000018.3):c.128G>A (p.(Gly43Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692455" "0" "70" "17" "7126549" "7126549" "subst" "0" "02327" "DLG4_000050" "g.7126549T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692456" "0" "50" "17" "7127021" "7127021" "subst" "0" "02325" "DLG4_000051" "g.7127021A>C" "" "" "" "ACADVL(NM_000018.4):c.1241A>C (p.E414A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692457" "0" "50" "17" "7127024" "7127024" "subst" "0" "02327" "DLG4_000052" "g.7127024C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692458" "0" "30" "17" "7127343" "7127343" "subst" "1.21828E-5" "01943" "DLG4_000053" "g.7127343G>A" "" "" "" "ACADVL(NM_001270448.1):c.1161G>A (p.G387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697283" "0" "70" "17" "7125612" "7125612" "del" "0" "00006" "ACADVL_000051" "g.7125612del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.7222293del" "" "likely pathogenic" "" "0000697284" "0" "70" "17" "7126471" "7126471" "subst" "2.43637E-5" "00006" "ACADVL_000052" "g.7126471G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.7223152G>A" "" "likely pathogenic" "" "0000726647" "0" "90" "17" "7099828" "7099828" "subst" "0" "02325" "DLG4_000054" "g.7099828G>A" "" "" "" "DLG4(NM_001365.4):c.1279C>T (p.Q427*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726648" "0" "50" "17" "7100169" "7100169" "subst" "0" "02329" "DLG4_000038" "g.7100169G>A" "" "" "" "DLG4(NM_001321075.2):c.990C>T (p.G330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726652" "0" "50" "17" "7123945" "7123945" "subst" "8.12123E-6" "01943" "DLG4_000055" "g.7123945G>A" "" "" "" "ACADVL(NM_000018.3):c.227G>A (p.G76E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726653" "0" "50" "17" "7123990" "7123990" "subst" "0" "01804" "DLG4_000056" "g.7123990C>A" "" "" "" "ACADVL(NM_000018.3):c.272C>A (p.(Pro91Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726654" "0" "30" "17" "7124931" "7124931" "subst" "2.84264E-5" "01943" "DLG4_000057" "g.7124931C>T" "" "" "" "ACADVL(NM_001270448.1):c.324C>T (p.I108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726655" "0" "30" "17" "7127503" "7127503" "subst" "0.000536062" "01943" "DLG4_000058" "g.7127503A>G" "" "" "" "ACADVL(NM_001270448.1):c.1245A>G (p.L415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726656" "0" "50" "17" "7127641" "7127641" "subst" "4.88751E-5" "01943" "DLG4_000059" "g.7127641C>T" "" "" "" "ACADVL(NM_000018.4):c.1534C>T (p.(Arg512Trp)), ACADVL(NM_001270448.1):c.1306C>T (p.R436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726657" "0" "50" "17" "7127698" "7127698" "subst" "0.000448244" "02329" "DLG4_000046" "g.7127698C>T" "" "" "" "ACADVL(NM_000018.4):c.1591C>T (p.(Arg531Trp), p.R531W), ACADVL(NM_001270448.1):c.1363C>T (p.R455W), ACADVL(NM_001270448.2):c.1363C>T (p.R455W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808241" "0" "90" "17" "7123482" "7123482" "del" "0" "01943" "DLG4_000024" "g.7123482del" "" "" "" "ACADVL(NM_000018.3):c.104delC (p.P35Lfs*26), ACADVL(NM_000018.4):c.104del (p.(Pro35Leufs*26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808242" "0" "50" "17" "7127982" "7127982" "subst" "0.000104078" "01943" "DLG4_000033" "g.7127982G>A" "" "" "" "ACADVL(NM_001270448.1):c.1472G>A (p.R491Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808243" "0" "30" "17" "7128200" "7128200" "subst" "0.0013323" "01943" "DLG4_000060" "g.7128200C>T" "" "" "" "ACADVL(NM_001270448.1):c.1596C>T (p.I532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000839769" "0" "50" "17" "7127705" "7127705" "subst" "0" "01741" "ACADVL_000053" "g.7127705G>A" "" "" "" "" "detected with another heterozygous (likely pathogenic) variant" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000855080" "0" "30" "17" "7125523" "7125523" "subst" "0.000312685" "01943" "DLG4_000063" "g.7125523G>A" "" "" "" "ACADVL(NM_001270448.1):c.552G>A (p.T184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865479" "0" "50" "17" "7099875" "7099875" "subst" "0" "02325" "DLG4_000062" "g.7099875C>T" "" "" "" "DLG4(NM_001365.4):c.1232G>A (p.R411Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865482" "0" "30" "17" "7123443" "7123443" "subst" "0.000119036" "01943" "DLG4_000023" "g.7123443C>T" "" "" "" "ACADVL(NM_000018.3):c.65C>T (p.S22L, p.(Ser22Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868592" "3" "90" "17" "7125504" "7125504" "subst" "0" "00006" "ACADVL_000065" "g.7125504G>A" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222185G>A" "" "pathogenic" "" "0000868593" "3" "90" "17" "7125291" "7125291" "subst" "0" "00006" "ACADVL_000023" "g.7125291T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7221972T>C" "" "pathogenic" "" "0000868594" "11" "90" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "pathogenic" "" "0000868595" "3" "50" "17" "7126471" "7126471" "subst" "2.43637E-5" "00006" "ACADVL_000052" "g.7126471G>A" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7223152G>A" "" "VUS" "" "0000868596" "3" "90" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "pathogenic" "" "0000868597" "11" "90" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "pathogenic" "" "0000868598" "1" "90" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "pathogenic" "" "0000868599" "11" "90" "17" "7127000" "7127000" "subst" "8.12117E-6" "00006" "ACADVL_000068" "g.7127000G>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7223681G>C" "" "pathogenic" "" "0000868600" "11" "90" "17" "7124899" "7124899" "subst" "4.46686E-5" "00006" "ACADVL_000038" "g.7124899G>A" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7221580G>A" "" "pathogenic" "" "0000868601" "11" "90" "17" "7126527" "7126527" "subst" "3.65456E-5" "00006" "ACADVL_000034" "g.7126527C>T" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7223208C>T" "" "pathogenic" "" "0000868602" "11" "90" "17" "7127000" "7127000" "subst" "8.12117E-6" "00006" "ACADVL_000068" "g.7127000G>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7223681G>C" "" "pathogenic" "" "0000868603" "21" "90" "17" "7126103" "7126103" "del" "0" "00006" "ACADVL_000066" "g.7126103del" "" "{PMID:Merinero 2018:28755359}" "" "996delT" "" "Germline" "" "" "0" "" "" "g.7222784del" "" "pathogenic" "" "0000868604" "3" "50" "17" "7128292" "7128292" "subst" "0.00281655" "00006" "ACADVL_000020" "g.7128292G>A" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7224973G>A" "" "VUS" "" "0000868605" "21" "90" "17" "7125333" "7125333" "subst" "4.06081E-6" "00006" "ACADVL_000064" "g.7125333C>T" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222014C>T" "" "pathogenic" "" "0000868606" "2" "90" "17" "7125333" "7125333" "subst" "4.06081E-6" "00006" "ACADVL_000064" "g.7125333C>T" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222014C>T" "" "pathogenic" "" "0000868607" "21" "90" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "pathogenic" "" "0000868608" "21" "50" "17" "7126471" "7126471" "subst" "2.43637E-5" "00006" "ACADVL_000052" "g.7126471G>A" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7223152G>A" "" "VUS" "" "0000868609" "21" "50" "17" "7128292" "7128292" "subst" "0.00281655" "00006" "ACADVL_000020" "g.7128292G>A" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7224973G>A" "" "VUS" "" "0000868610" "21" "90" "17" "7126501" "7126501" "subst" "1.21817E-5" "00006" "ACADVL_000067" "g.7126501T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7223182T>C" "" "pathogenic" "" "0000868611" "21" "90" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "pathogenic" "" "0000868615" "0" "90" "17" "7126097" "7126101" "del" "0" "00006" "ACADVL_000063" "g.7126097_7126101del" "" "{PMID:Merinero 2018:28755359}" "" "c.990_994delCAAGC" "" "Germline" "" "" "0" "" "" "g.7222778_7222782del" "" "pathogenic" "" "0000868616" "0" "90" "17" "7123843" "7123843" "subst" "0" "00006" "ACADVL_000023" "g.7123843A>T" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7220524A>T" "" "pathogenic" "" "0000868617" "0" "50" "17" "7126003" "7126005" "del" "0" "00006" "ACADVL_000060" "g.7126003_7126005del" "" "{PMID:Merinero 2018:28755359}" "" "c.896_898delAGA" "" "Germline" "" "" "0" "" "" "g.7222684_7222686del" "" "VUS" "" "0000868618" "0" "90" "17" "7126476" "7126477" "del" "0" "00006" "ACADVL_000062" "g.7126476_7126477del" "" "{PMID:Merinero 2018:28755359}" "" "c.1102_1103delCA" "" "Germline" "" "" "0" "" "" "g.7223157_7223158del" "" "pathogenic" "" "0000868619" "0" "90" "17" "7124101" "7124104" "del" "0" "00006" "ACADVL_000061" "g.7124101_7124104del" "" "{PMID:Merinero 2018:28755359}" "" "c.294_297delGACA" "" "Germline" "" "" "0" "" "" "g.7220782_7220785del" "" "pathogenic" "" "0000868620" "0" "50" "17" "7126003" "7126005" "del" "0" "00006" "ACADVL_000060" "g.7126003_7126005del" "" "{PMID:Merinero 2018:28755359}" "" "c.896_898delAGA" "" "Germline" "" "" "0" "" "" "g.7222684_7222686del" "" "VUS" "" "0000868621" "0" "50" "17" "7126003" "7126005" "del" "0" "00006" "ACADVL_000060" "g.7126003_7126005del" "" "{PMID:Merinero 2018:28755359}" "" "c.896_898delAGA" "" "Germline" "" "" "0" "" "" "g.7222684_7222686del" "" "VUS" "" "0000868622" "0" "50" "17" "7126003" "7126005" "del" "0" "00006" "ACADVL_000060" "g.7126003_7126005del" "" "{PMID:Merinero 2018:28755359}" "" "c.896_898delAGA" "" "Germline" "" "" "0" "" "" "g.7222684_7222686del" "" "VUS" "" "0000868623" "0" "10" "17" "7124894" "7124894" "subst" "0" "00006" "ACADVL_000059" "g.7124894T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7221575T>C" "" "benign" "" "0000868624" "0" "50" "17" "7125291" "7125291" "subst" "0" "00006" "ACADVL_000023" "g.7125291T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7221972T>C" "" "VUS" "" "0000868625" "0" "50" "17" "7127820" "7127820" "subst" "0" "00006" "ACADVL_000058" "g.7127820T>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7224501T>C" "" "VUS" "" "0000868626" "0" "50" "17" "7124860" "7124860" "subst" "4.4674E-5" "00006" "ACADVL_000057" "g.7124860G>A" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7221541G>A" "" "VUS" "" "0000868627" "0" "50" "17" "7125342" "7125342" "subst" "4.06065E-6" "00006" "ACADVL_000056" "g.7125342G>A" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222023G>A" "" "VUS" "" "0000868628" "0" "90" "17" "7126144" "7126144" "subst" "1.21953E-5" "00006" "ACADVL_000055" "g.7126144C>T" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7222825C>T" "" "pathogenic" "" "0000868629" "0" "70" "17" "7127184" "7127184" "subst" "4.06246E-6" "00006" "ACADVL_000026" "g.7127184G>C" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7223865G>C" "" "likely pathogenic" "" "0000868630" "0" "50" "17" "7123990" "7123990" "subst" "0" "00006" "ACADVL_000054" "g.7123990C>T" "" "{PMID:Merinero 2018:28755359}" "" "" "" "Germline" "" "" "0" "" "" "g.7220671C>T" "" "VUS" "" "0000894229" "0" "70" "17" "7094120" "7094120" "dup" "0" "02329" "DLG4_000009" "g.7094120dup" "" "" "" "DLG4(NM_001321075.3):c.2082dupT (p.D695*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000894230" "0" "90" "17" "7099531" "7099547" "del" "0" "02329" "ACADVL_000070" "g.7099531_7099547del" "" "" "" "DLG4(NM_001365.4):c.1424_1430+10delACATCAGGTCAGAGGCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894234" "0" "30" "17" "7125284" "7125284" "subst" "0.00137318" "02327" "DVL2_000001" "g.7125284C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894235" "0" "50" "17" "7125506" "7125506" "subst" "0" "02327" "DVL2_000002" "g.7125506C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894236" "0" "90" "17" "7125608" "7125608" "subst" "0.000109686" "02326" "ACADVL_000001" "g.7125608G>A" "" "" "" "ACADVL(NM_000018.4):c.865G>A (p.G289R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894237" "0" "50" "17" "7128287" "7128287" "subst" "0.00053249" "02327" "DLG4_000034" "g.7128287G>A" "" "" "" "ACADVL(NM_001270448.1):c.1611G>A (p.R537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926633" "0" "50" "17" "7127674" "7127674" "subst" "0.000415384" "01804" "DVL2_000003" "g.7127674G>A" "" "" "" "ACADVL(NM_000018.3):c.1567G>A (p.(Gly523Arg)), ACADVL(NM_000018.4):c.1567G>A (p.G523R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927671" "0" "90" "17" "7125591" "7125591" "subst" "0.00127919" "03779" "ACADVL_000010" "g.7125591T>C" "" "" "" "" "" "Unknown" "" "rs113994167" "0" "" "" "" "" "pathogenic" "" "0000930880" "0" "50" "17" "7097695" "7097695" "subst" "1.23296E-5" "02327" "ACADVL_000071" "g.7097695C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936006" "1" "90" "17" "7124105" "7124106" "del" "0" "00006" "ACADVL_000072" "g.7124105_7124106del" "" "{PMID:Chuan 2022:35571021}" "" "NM_001270447.1:c.298_299delCA" "" "Germline" "" "" "0" "" "" "g.7220786_7220787del" "" "pathogenic" "" "0000936041" "2" "90" "17" "7124892" "7124892" "subst" "0" "00006" "ACADVL_000073" "g.7124892C>A" "" "{PMID:Chuan 2022:35571021}" "" "NM_001270447.1:c.513C>A" "" "Germline" "" "" "0" "" "" "g.7221573C>A" "" "pathogenic" "" "0000944409" "0" "90" "17" "7126144" "7126144" "subst" "1.21953E-5" "00006" "ACADVL_000055" "g.7126144C>T" "" "{PMID:Boucher 2020:33229591}" "" "NM_001270447:c.1106C>T" "" "Germline" "" "" "0" "" "" "g.7222825C>T" "" "VUS" "" "0000951029" "0" "30" "17" "7123221" "7123221" "subst" "1.42704E-5" "01804" "ACADVL_000074" "g.7123221G>C" "" "" "" "DLG4(NM_001128827.1):c.-2755C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951030" "0" "30" "17" "7129898" "7129898" "subst" "0.0143975" "01804" "DVL2_000004" "g.7129898G>A" "" "" "" "DVL2(NM_004422.2):c.1604C>T (p.(Thr535Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957826" "0" "50" "17" "7128342" "7128342" "subst" "0.000300622" "00006" "ACADVL_000075" "g.7128342C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7225023C>T" "" "VUS" "" "0000957863" "0" "50" "17" "7128342" "7128342" "subst" "0.000300622" "00006" "ACADVL_000075" "g.7128342C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7225023C>T" "" "VUS" "" "0000969212" "0" "30" "17" "7127894" "7127894" "subst" "0.00159147" "02326" "DVL2_000005" "g.7127894C>T" "" "" "" "ACADVL(NM_000018.4):c.1678+23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982754" "0" "30" "17" "7106320" "7106320" "subst" "0" "01804" "ACADVL_000076" "g.7106320G>A" "" "" "" "DLG4(NM_001321075.3):c.689C>T (p.(Ala230Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982755" "0" "30" "17" "7111487" "7111487" "subst" "4.09876E-5" "01804" "ACADVL_000077" "g.7111487G>T" "" "" "" "DLG4(NM_001321075.3):c.96+6C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982762" "0" "50" "17" "7120475" "7120475" "subst" "0" "01804" "ACADVL_000078" "g.7120475G>A" "" "" "" "ACADVL(NM_001270447.2):c.11G>A (p.(Gly4Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982763" "0" "50" "17" "7120478" "7120478" "subst" "0.0011959" "01804" "ACADVL_000079" "g.7120478T>C" "" "" "" "ACADVL(NM_001270447.2):c.14T>C (p.(Leu5Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982764" "0" "50" "17" "7121041" "7121041" "subst" "0.000316086" "01804" "ACADVL_000080" "g.7121041G>A" "" "" "" "ACADVL(NM_001270447.2):c.35G>A (p.(Arg12Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982765" "0" "50" "17" "7124093" "7124093" "subst" "0.000117764" "01804" "ACADVL_000009" "g.7124093G>A" "" "" "" "ACADVL(NM_000018.4):c.286G>A (p.(Glu96Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982766" "0" "30" "17" "7124115" "7124115" "subst" "0.0014012" "01804" "DVL2_000006" "g.7124115A>G" "" "" "" "ACADVL(NM_000018.4):c.308A>G (p.(Lys103Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982767" "0" "30" "17" "7125263" "7125263" "subst" "0.00194262" "02326" "DVL2_000007" "g.7125263C>T" "" "" "" "ACADVL(NM_000018.4):c.623-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982768" "0" "50" "17" "7125561" "7125561" "subst" "0.00027207" "01804" "DVL2_000008" "g.7125561G>C" "" "" "" "ACADVL(NM_000018.4):c.818G>C (p.(Gly273Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982769" "0" "90" "17" "7127184" "7127184" "subst" "2.43748E-5" "01804" "ACADVL_000004" "g.7127184G>A" "" "" "" "ACADVL(NM_000018.4):c.1322G>A (p.(Gly441Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982770" "0" "50" "17" "7127308" "7127308" "subst" "0" "01804" "DVL2_000009" "g.7127308C>T" "" "" "" "ACADVL(NM_000018.4):c.1354C>T (p.(Leu452Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982771" "0" "50" "17" "7127641" "7127641" "subst" "4.88751E-5" "01804" "DLG4_000059" "g.7127641C>T" "" "" "" "ACADVL(NM_000018.4):c.1534C>T (p.(Arg512Trp)), ACADVL(NM_001270448.1):c.1306C>T (p.R436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982772" "0" "90" "17" "7127698" "7127698" "subst" "0.000448244" "01804" "DLG4_000046" "g.7127698C>T" "" "" "" "ACADVL(NM_000018.4):c.1591C>T (p.(Arg531Trp), p.R531W), ACADVL(NM_001270448.1):c.1363C>T (p.R455W), ACADVL(NM_001270448.2):c.1363C>T (p.R455W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982773" "0" "30" "17" "7127707" "7127707" "subst" "0.00194394" "02326" "ACADVL_000002" "g.7127707G>A" "" "" "" "ACADVL(NM_000018.4):c.1600G>A (p.E534K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000988581" "0" "70" "17" "7125994" "7125995" "del" "4.07751E-6" "00006" "ACADVL_000045" "g.7125994_7125995del" "2/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "887_888delCT" "" "Germline" "" "" "0" "" "" "g.7222675_7222676del" "" "likely pathogenic" "" "0000988582" "0" "70" "17" "7127303" "7127303" "subst" "2.4374E-5" "00006" "ACADVL_000005" "g.7127303G>A" "2/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.7223984G>A" "" "likely pathogenic" "" "0000988583" "0" "50" "17" "7124054" "7124067" "del" "0" "00006" "ACADVL_000081" "g.7124054_7124067del" "1/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.7220735_7220748del" "" "VUS" "" "0000988584" "0" "70" "17" "7124932" "7124932" "subst" "8.12183E-6" "00006" "ACADVL_000082" "g.7124932G>A" "1/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.7221613G>A" "" "likely pathogenic" "" "0000988585" "0" "70" "17" "7125290" "7125291" "del" "0" "00006" "ACADVL_000083" "g.7125290_7125291del" "1/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "642_643delCT" "" "Germline" "" "" "0" "" "" "g.7221971_7221972del" "" "likely pathogenic" "" "0000988586" "0" "50" "17" "7125581" "7125581" "subst" "0" "00006" "ACADVL_000084" "g.7125581A>G" "1/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.7222262A>G" "" "VUS" "" "0000988587" "0" "50" "17" "7125655" "7125655" "subst" "3.29275E-5" "00006" "ACADVL_000085" "g.7125655G>A" "1/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.7222336G>A" "" "VUS" "" "0000988588" "0" "50" "17" "7126002" "7126002" "subst" "0" "00006" "ACADVL_000028" "g.7126002A>G" "1/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.7222683A>G" "" "VUS" "" "0000988589" "0" "50" "17" "7126184" "7126184" "subst" "1.22552E-5" "00006" "ACADVL_000007" "g.7126184G>A" "1/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.7222865G>A" "" "VUS" "" "0000988590" "0" "70" "17" "7127142" "7127142" "subst" "0" "00006" "ACADVL_000032" "g.7127142G>A" "1/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.7223823G>A" "" "likely pathogenic" "" "0000988591" "0" "50" "17" "7127299" "7127299" "subst" "4.0625E-6" "00006" "ACADVL_000039" "g.7127299G>C" "1/13 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.7223980G>C" "" "VUS" "" "0001003630" "0" "50" "17" "7096796" "7096796" "subst" "1.14457E-5" "01804" "ACADVL_000086" "g.7096796A>G" "" "" "" "DLG4(NM_001365.3):c.1822+6T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003631" "0" "30" "17" "7097021" "7097021" "subst" "2.81881E-5" "01804" "ACADVL_000087" "g.7097021G>A" "" "" "" "DLG4(NM_001365.3):c.1685C>T (p.(Ser562Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003632" "0" "90" "17" "7100234" "7100234" "subst" "0" "02329" "DLG4_000013" "g.7100234G>A" "" "" "" "DLG4(NM_001365.3):c.1054C>T (p.(Arg352Ter)), DLG4(NM_001365.4):c.1054C>T (p.R352*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003633" "0" "30" "17" "7106339" "7106339" "subst" "1.21901E-5" "01804" "ACADVL_000088" "g.7106339T>C" "" "" "" "DLG4(NM_001365.3):c.799A>G (p.(Met267Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003634" "0" "30" "17" "7106622" "7106622" "subst" "0" "01804" "ACADVL_000089" "g.7106622C>G" "" "" "" "DLG4(NM_001365.3):c.661G>C (p.(Val221Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007248" "1" "90" "17" "7123843" "7123843" "subst" "0" "00006" "ACADVL_000023" "g.7123843A>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7220524A>T" "" "pathogenic" "" "0001007249" "3" "70" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "likely pathogenic" "" "0001007250" "3" "70" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "likely pathogenic" "" "0001007251" "1" "70" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "likely pathogenic" "" "0001007252" "1" "70" "17" "7126548" "7126548" "subst" "4.06065E-6" "00006" "ACADVL_000025" "g.7126548G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "rs746806439" "0" "" "" "g.7223229G>C" "" "likely pathogenic" "" "0001007327" "1" "70" "17" "7123843" "7123843" "subst" "0" "00006" "ACADVL_000023" "g.7123843A>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7220524A>T" "" "likely pathogenic" "" "0001007328" "1" "70" "17" "7123990" "7123990" "subst" "0" "00006" "ACADVL_000054" "g.7123990C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7220671C>T" "" "likely pathogenic" "" "0001007329" "1" "70" "17" "7124860" "7124860" "subst" "4.4674E-5" "00006" "ACADVL_000057" "g.7124860G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7221541G>A" "" "likely pathogenic" "" "0001007330" "1" "70" "17" "7125291" "7125291" "subst" "0" "00006" "ACADVL_000023" "g.7125291T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7221972T>C" "" "likely pathogenic" "" "0001007331" "1" "70" "17" "7125342" "7125342" "subst" "4.06065E-6" "00006" "ACADVL_000056" "g.7125342G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7222023G>A" "" "likely pathogenic" "" "0001007332" "1" "70" "17" "7126003" "7126005" "del" "0" "00006" "ACADVL_000060" "g.7126003_7126005del" "" "{PMID:Navarrete 2019:30626930}" "" "896_898delAGA" "" "Germline" "" "" "0" "" "" "g.7222684_7222686del" "" "likely pathogenic" "" "0001007333" "1" "70" "17" "7126003" "7126005" "del" "0" "00006" "ACADVL_000060" "g.7126003_7126005del" "" "{PMID:Navarrete 2019:30626930}" "" "896_898delAGA" "" "Germline" "" "" "0" "" "" "g.7222684_7222686del" "" "likely pathogenic" "" "0001007334" "1" "70" "17" "7126003" "7126005" "del" "0" "00006" "ACADVL_000060" "g.7126003_7126005del" "" "{PMID:Navarrete 2019:30626930}" "" "896_898delAGA" "" "Germline" "" "" "0" "" "" "g.7222684_7222686del" "" "likely pathogenic" "" "0001007335" "1" "50" "17" "7127184" "7127184" "subst" "4.06246E-6" "00006" "ACADVL_000026" "g.7127184G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7223865G>C" "" "VUS" "" "0001007336" "1" "70" "17" "7127359" "7127359" "subst" "2.84264E-5" "00006" "ACADVL_000091" "g.7127359C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7224040C>T" "" "likely pathogenic" "" "0001007337" "1" "70" "17" "7127982" "7127982" "subst" "0.000104078" "00006" "DLG4_000033" "g.7127982G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7224663G>A" "" "likely pathogenic" "" "0001007338" "1" "70" "17" "7128030" "7128030" "subst" "0" "00006" "ACADVL_000092" "g.7128030C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7224711C>T" "" "likely pathogenic" "" "0001007374" "2" "70" "17" "7126495" "7126495" "subst" "0" "00006" "ACADVL_000024" "g.7126495A>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7223176A>C" "" "likely pathogenic" "" "0001007375" "2" "90" "17" "7126533" "7126533" "subst" "0" "00006" "ACADVL_000090" "g.7126533G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.7223214G>A" "" "pathogenic" "" "0001007376" "2" "90" "17" "7128126" "7128131" "del" "0" "00006" "ACADVL_000027" "g.7128126_7128131del" "" "{PMID:Navarrete 2019:30626930}" "" "1752-2_1755del6" "" "Germline" "" "" "0" "" "" "g.7224807_7224812del" "" "pathogenic" "" "0001017100" "1" "90" "17" "7123482" "7123483" "ins" "0" "00006" "ACADVL_000094" "g.7123482_7123483insN[10]" "" "{PMID:Kang 2018:29519241}" "" "104_105ins10" "" "Germline" "" "" "0" "" "" "g.7220163_7220164insN[10]" "" "pathogenic (recessive)" "" "0001017101" "3" "90" "17" "7127303" "7127303" "subst" "2.4374E-5" "00006" "ACADVL_000005" "g.7127303G>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.7223984G>A" "" "pathogenic (recessive)" "" "0001017102" "1" "90" "17" "7123481" "7123490" "dup" "0" "00006" "ACADVL_000093" "g.7123481_7123490dup" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.7220162_7220171dup" "" "pathogenic (recessive)" "" "0001017103" "1" "90" "17" "7126103" "7126103" "dup" "0" "00006" "ACADVL_000099" "g.7126103dup" "" "{PMID:Kang 2018:29519241}" "" "996_997ins(T)" "" "Germline" "" "" "0" "" "" "g.7222784dup" "" "pathogenic (recessive)" "" "0001017104" "1" "90" "17" "7127303" "7127303" "subst" "2.4374E-5" "00006" "ACADVL_000005" "g.7127303G>A" "" "{PMID:Kang 2018:29519241}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.7223984G>A" "" "pathogenic (recessive)" "" "0001017120" "1" "90" "17" "7126104" "7126105" "ins" "0" "00006" "ACADVL_000100" "g.7126104_7126105insT" "" "{PMID:Kang 2018:29519241}" "" "997_998ins(T) (A333*)" "" "Germline" "" "" "0" "" "" "g.7222785_7222786insT" "" "pathogenic (recessive)" "" "0001017122" "2" "90" "17" "7123482" "7123483" "ins" "0" "00006" "ACADVL_000095" "g.7123482_7123483insN[105]" "" "{PMID:Kang 2018:29519241}" "" "104_105ins5" "" "Germline" "" "" "0" "" "" "g.7220163_7220164insN[5]" "" "pathogenic (recessive)" "" "0001017123" "2" "90" "17" "7127562" "7127562" "subst" "4.06726E-6" "00006" "ACADVL_000106" "g.7127562G>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.7224243G>A" "" "pathogenic (recessive)" "" "0001017124" "2" "90" "17" "7124931" "7124931" "subst" "0" "00006" "ACADVL_000096" "g.7124931C>G" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.7221612C>G" "" "pathogenic (recessive)" "" "0001017137" "2" "90" "17" "7128146" "7128149" "del" "0" "00006" "ACADVL_000107" "g.7128146_7128149del" "" "{PMID:Kang 2018:29519241}" "" "(S590*)" "" "Germline" "" "" "0" "" "" "g.7224827_7224830del" "" "pathogenic (recessive)" "" "0001017226" "3" "90" "17" "7127184" "7127184" "subst" "2.43748E-5" "00006" "ACADVL_000004" "g.7127184G>A" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.7223865G>A" "" "pathogenic (recessive)" "" "0001017227" "3" "90" "17" "7124956" "7124956" "subst" "4.06118E-6" "00006" "ACADVL_000097" "g.7124956G>C" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.7221637G>C" "" "pathogenic (recessive)" "" "0001017228" "3" "90" "17" "7125291" "7125291" "subst" "0" "00006" "ACADVL_000023" "g.7125291T>C" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.7221972T>C" "" "pathogenic (recessive)" "" "0001017229" "3" "90" "17" "7123482" "7123482" "del" "0" "00006" "DLG4_000024" "g.7123482del" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.7220163del" "" "pathogenic (recessive)" "" "0001017230" "3" "90" "17" "7123482" "7123482" "del" "0" "00006" "DLG4_000024" "g.7123482del" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.7220163del" "" "pathogenic (recessive)" "" "0001017231" "3" "90" "17" "7126515" "7126517" "del" "0" "00006" "ACADVL_000101" "g.7126515_7126517del" "" "{PMID:Diekman 2014:24305961}" "" "1141-43delGAG" "" "Germline" "" "" "0" "" "" "g.7223196_7223198del" "" "pathogenic (recessive)" "" "0001017232" "3" "90" "17" "7127365" "7127365" "subst" "8.12183E-6" "00006" "ACADVL_000103" "g.7127365T>C" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.7224046T>C" "" "pathogenic (recessive)" "" "0001017233" "3" "90" "17" "7127360" "7127360" "subst" "0" "00006" "ACADVL_000102" "g.7127360G>A" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.7224041G>A" "" "pathogenic (recessive)" "" "0001017234" "3" "90" "17" "7127184" "7127184" "subst" "2.43748E-5" "00006" "ACADVL_000004" "g.7127184G>A" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.7223865G>A" "" "pathogenic (recessive)" "" "0001017235" "1" "90" "17" "7127474" "7127478" "del" "0" "00006" "ACADVL_000104" "g.7127474_7127478del" "" "{PMID:Diekman 2014:24305961}" "" "1444_1448delAAGGA" "" "Germline" "" "" "0" "" "" "g.7224155_7224159del" "" "pathogenic (recessive)" "" "0001017236" "3" "90" "17" "7125576" "7125578" "del" "0" "00006" "ACADVL_000098" "g.7125576_7125578del" "" "{PMID:Diekman 2014:24305961}" "" "833_835delAAG" "" "Germline" "" "" "0" "" "" "g.7222257_7222259del" "" "pathogenic (recessive)" "" "0001017237" "1" "90" "17" "7125591" "7125591" "subst" "0.00127919" "00006" "ACADVL_000010" "g.7125591T>C" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.7222272T>C" "" "pathogenic (recessive)" "" "0001017244" "2" "90" "17" "7127541" "7127546" "del" "0" "00006" "ACADVL_000105" "g.7127541_7127546del" "" "{PMID:Diekman 2014:24305961}" "" "1511_1516delAGAGG" "" "Germline" "" "" "0" "" "" "g.7224222_7224227del" "" "pathogenic (recessive)" "" "0001017245" "0" "90" "17" "7127474" "7127478" "del" "0" "00006" "ACADVL_000104" "g.7127474_7127478del" "" "{PMID:Diekman 2014:24305961}" "" "1444_1448delAAGGA" "" "Germline" "" "" "0" "" "" "g.7224155_7224159del" "" "pathogenic (recessive)" "" "0001017249" "0" "90" "17" "7127541" "7127546" "del" "0" "00006" "ACADVL_000105" "g.7127541_7127546del" "" "{PMID:Diekman 2014:24305961}" "" "1509_1514delAGAGGC" "" "Germline" "" "" "0" "" "" "g.7224222_7224227del" "" "pathogenic (recessive)" "" "0001027052" "0" "50" "17" "7127674" "7127674" "subst" "0.000415384" "02325" "DVL2_000003" "g.7127674G>A" "" "" "" "ACADVL(NM_000018.3):c.1567G>A (p.(Gly523Arg)), ACADVL(NM_000018.4):c.1567G>A (p.G523R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042144" "0" "50" "17" "7106812" "7106812" "subst" "0" "01804" "ACADVL_000108" "g.7106812G>C" "" "" "" "DLG4(NM_001321075.3):c.436C>G (p.(Leu146Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042149" "0" "50" "17" "7123499" "7123499" "subst" "2.38626E-5" "01804" "ACADVL_000109" "g.7123499G>A" "" "" "" "ACADVL(NM_000018.4):c.121G>A (p.(Ala41Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042150" "0" "30" "17" "7123516" "7123516" "subst" "3.2174E-5" "01804" "ACADVL_000110" "g.7123516G>A" "" "" "" "ACADVL(NM_001270448.2):c.-91G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042151" "0" "70" "17" "7125522" "7125522" "subst" "2.03034E-5" "01804" "DLG4_000042" "g.7125522C>T" "" "" "" "ACADVL(NM_000018.4):c.779C>T (p.(Thr260Met)), ACADVL(NM_001270448.2):c.551C>T (p.T184M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046668" "0" "30" "17" "7125469" "7125469" "subst" "0.00164861" "02326" "DVL2_000010" "g.7125469C>T" "" "" "" "ACADVL(NM_000018.4):c.753-27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055798" "0" "70" "17" "7099807" "7099807" "subst" "0" "01804" "ACADVL_000111" "g.7099807G>A" "" "" "" "DLG4(NM_001321075.3):c.1171C>T (p.(Gln391*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055799" "0" "30" "17" "7107519" "7107519" "subst" "1.24097E-5" "01804" "ACADVL_000112" "g.7107519T>A" "" "" "" "DLG4(NM_001321075.3):c.149A>T (p.(Tyr50Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055800" "0" "50" "17" "7121040" "7121040" "subst" "8.10478E-6" "01804" "ACADVL_000113" "g.7121040C>T" "" "" "" "ACADVL(NM_001270447.2):c.34C>T (p.(Arg12Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060836" "0" "90" "17" "7127982" "7127982" "subst" "0.000104078" "00006" "DLG4_000033" "g.7127982G>A" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PM3, PS3, PM2, PP3, PP2, PP5; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.7224663G>A" "" "pathogenic" "ACMG" ## 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 ACADVL ## Count = 258 "{{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}}" "0000000643" "00025236" "00" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Gly289Arg)" "" "0000000644" "00025236" "00" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Glu534Lys)" "" "0000061822" "00025236" "50" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(=)" "" "0000061823" "00025236" "90" "1269" "0" "1269" "0" "c.1269G>C" "r.(?)" "p.(=)" "" "0000061824" "00025236" "90" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Gly441Asp)" "" "0000061825" "00025236" "90" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0000061826" "00025236" "10" "1605" "6" "1605" "6" "c.1605+6T>C" "r.spl?" "p.(=)" "" "0000061827" "00025236" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "" "0000061828" "00025236" "50" "-63" "0" "-49" "0" "c.-63_-49dup" "r.(?)" "p.(=)" "" "0000061829" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000079325" "00025236" "00" "-127617" "0" "105984" "0" "c.-127617_*104016del" "r.0?" "p.0?" "" "0000130045" "00025236" "00" "425" "0" "425" "0" "c.425T>C" "r.(?)" "p.(Phe142Ser)" "" "0000196642" "00025236" "10" "-19" "-115" "-19" "-115" "c.-19-115T>C" "r.(?)" "p.(=)" "1i" "0000222659" "00025236" "70" "604" "0" "604" "0" "c.604C>G" "r.(604c>g)" "p.(Leu202Val)" "7" "0000258875" "00025236" "10" "1605" "6" "1605" "6" "c.1605+6T>C" "r.(=)" "p.(=)" "" "0000260480" "00025236" "30" "1434" "14" "1434" "14" "c.1434+14T>A" "r.(=)" "p.(=)" "" "0000260481" "00025236" "30" "1435" "-3" "1435" "-3" "c.1435-3T>C" "r.spl?" "p.?" "" "0000260482" "00025236" "30" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Arg615Gln)" "" "0000260483" "00025236" "30" "478" "-89" "478" "-89" "c.478-89T>C" "r.(=)" "p.(=)" "" "0000261761" "00025236" "30" "-2817" "0" "-2817" "0" "c.-2817C>T" "r.(?)" "p.(=)" "" "0000261762" "00025236" "10" "693" "0" "693" "0" "c.693T>A" "r.(?)" "p.(Ser231=)" "" "0000325141" "00025236" "50" "-15956" "0" "-15956" "0" "c.-15956G>T" "r.(?)" "p.(=)" "" "0000325142" "00025236" "50" "-15955" "0" "-15955" "0" "c.-15955T>A" "r.(?)" "p.(=)" "" "0000325145" "00025236" "50" "1532" "6" "1532" "6" "c.1532+6C>T" "r.(=)" "p.(=)" "" "0000338973" "00025236" "90" "753" "-2" "753" "-2" "c.753-2A>C" "r.spl?" "p.?" "" "0000342708" "00025236" "70" "-23070" "0" "-23070" "0" "c.-23070G>A" "r.(?)" "p.(=)" "" "0000342851" "00025236" "50" "-23428" "0" "-23428" "0" "c.-23428G>A" "r.(?)" "p.(=)" "" "0000343106" "00025236" "30" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32Gln)" "" "0000343222" "00025236" "70" "-27023" "0" "-27023" "0" "c.-27023G>A" "r.(?)" "p.(=)" "" "0000344566" "00025236" "70" "-16277" "0" "-16277" "0" "c.-16277G>A" "r.(?)" "p.(=)" "" "0000405742" "00025236" "90" "199" "0" "199" "0" "c.199A>T" "r.(?)" "p.(Lys67*)" "" "0000405743" "00025236" "70" "1121" "0" "1121" "0" "c.1121A>C" "r.(?)" "p.(His374Pro)" "" "0000405744" "00025236" "70" "1174" "0" "1174" "0" "c.1174G>C" "r.(?)" "p.(Val392Leu)" "" "0000405745" "00025236" "90" "1752" "-2" "1755" "0" "c.1752-2_1755del" "r.spl" "p.?" "" "0000405822" "00025236" "50" "1322" "0" "1322" "0" "c.1322G>C" "r.(?)" "p.(Gly441Ala)" "" "0000465648" "00025236" "70" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "15" "0000562912" "00025236" "50" "-26482" "0" "-26482" "0" "c.-26482T>C" "r.(?)" "p.(=)" "" "0000562913" "00025236" "70" "-25995" "0" "-25995" "0" "c.-25995G>A" "r.(?)" "p.(=)" "" "0000562914" "00025236" "70" "-25992" "0" "-25992" "0" "c.-25992G>A" "r.(?)" "p.(=)" "" "0000562915" "00025236" "50" "-25573" "0" "-25573" "0" "c.-25573A>T" "r.(?)" "p.(=)" "" "0000562916" "00025236" "90" "-23659" "0" "-23659" "0" "c.-23659G>A" "r.(?)" "p.(=)" "" "0000562917" "00025236" "50" "-23070" "0" "-23070" "0" "c.-23070G>A" "r.(?)" "p.(=)" "" "0000562918" "00025236" "50" "-15937" "0" "-15937" "0" "c.-15937G>A" "r.(?)" "p.(=)" "" "0000562933" "00025236" "50" "65" "0" "65" "0" "c.65C>T" "r.(?)" "p.(Ser22Leu)" "" "0000562934" "00025236" "90" "104" "0" "104" "0" "c.104del" "r.(?)" "p.(Pro35LeufsTer26)" "" "0000562935" "00025236" "50" "139" "-2" "139" "-2" "c.139-2A>T" "r.spl?" "p.?" "" "0000562937" "00025236" "10" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Pro65Leu)" "" "0000562938" "00025236" "30" "478" "-106" "478" "-106" "c.478-106T>C" "r.(=)" "p.(=)" "" "0000562939" "00025236" "30" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Tyr160=)" "" "0000562940" "00025236" "30" "495" "0" "495" "0" "c.495G>A" "r.(?)" "p.(Glu165=)" "" "0000562941" "00025236" "50" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000562942" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000562945" "00025236" "90" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Gly441Asp)" "" "0000562946" "00025236" "70" "1366" "0" "1366" "0" "c.1366C>G" "r.(?)" "p.(Arg456Gly)" "" "0000562947" "00025236" "10" "1605" "6" "1605" "6" "c.1605+6T>C" "r.(=)" "p.(=)" "" "0000562948" "00025236" "70" "1700" "0" "1700" "0" "c.1700G>A" "r.(?)" "p.(Arg567Gln)" "" "0000562949" "00025236" "30" "1839" "0" "1839" "0" "c.1839G>A" "r.(?)" "p.(Arg613=)" "" "0000562950" "00025236" "30" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Arg615Gln)" "" "0000562951" "00025236" "30" "3067" "0" "3067" "0" "c.*1099C>T" "r.(=)" "p.(=)" "" "0000562952" "00025236" "30" "5844" "0" "5844" "0" "c.*3876G>C" "r.(=)" "p.(=)" "" "0000562953" "00025236" "30" "6326" "0" "6326" "0" "c.*4358G>A" "r.(=)" "p.(=)" "" "0000593818" "00025236" "90" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Lys299Glu)" "10" "0000593819" "00025236" "90" "1238" "0" "1238" "0" "c.1238T>C" "r.(?)" "p.(Ile413Thr)" "12" "0000593820" "00025236" "90" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(His181Tyr)" "7" "0000593821" "00025236" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Trp)" "11" "0000593822" "00025236" "90" "863" "0" "863" "0" "c.863T>G" "r.(?)" "p.(Phe288Cys)" "9" "0000593823" "00025236" "90" "878" "1" "878" "1" "c.878+1G>C" "r.spl" "p.?" "" "0000593824" "00025236" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "13" "0000593825" "00025236" "90" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Arg456Cys)" "" "0000593826" "00025236" "90" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Trp427*)" "" "0000593827" "00025236" "90" "1505" "0" "1505" "0" "c.1505T>A" "r.(?)" "p.(Leu502Gln)" "15" "0000597038" "00025236" "70" "1345" "0" "1345" "0" "c.1345G>C" "r.(?)" "p.(Glu449Gln)" "" "0000597039" "00025236" "70" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Val174Met)" "" "0000616788" "00025236" "10" "-2199" "0" "-2199" "0" "c.-2199C>A" "r.(?)" "p.(=)" "" "0000616789" "00025236" "30" "114" "0" "114" "0" "c.114G>C" "r.(?)" "p.(Arg38=)" "" "0000616790" "00025236" "30" "198" "0" "198" "0" "c.198C>G" "r.(?)" "p.(Ala66=)" "" "0000616791" "00025236" "30" "1566" "0" "1566" "0" "c.1566C>T" "r.(?)" "p.(Ser522=)" "" "0000616792" "00025236" "50" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Trp)" "" "0000623755" "00025236" "90" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Met)" "" "0000623756" "00025236" "30" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Val275Ala)" "" "0000623757" "00025236" "30" "1284" "0" "1284" "0" "c.1284G>A" "r.(?)" "p.(Lys428=)" "" "0000649690" "00025236" "50" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Gly143Cys)" "" "0000649691" "00025236" "50" "637" "0" "637" "0" "c.637G>C" "r.(?)" "p.(Ala213Pro)" "" "0000649692" "00025236" "70" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Gly222Arg)" "" "0000649693" "00025236" "50" "829" "0" "831" "0" "c.829_831del" "r.(?)" "p.(Glu277del)" "" "0000649694" "00025236" "70" "887" "0" "888" "0" "c.887_888del" "r.(?)" "p.(Pro296Argfs*17)" "" "0000649695" "00025236" "50" "1226" "0" "1226" "0" "c.1226C>T" "r.(?)" "p.(Thr409Met)" "" "0000649696" "00025236" "70" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459Gln)" "" "0000649697" "00025236" "70" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Trp)" "" "0000653283" "00025236" "70" "343" "0" "343" "0" "c.343del" "r.(?)" "p.(Glu115LysfsTer2)" "" "0000653284" "00025236" "50" "890" "0" "898" "0" "c.890_898del" "r.(?)" "p.(Glu297_Met300delinsVal)" "" "0000658243" "00025236" "50" "1703" "0" "1703" "0" "c.1703T>C" "r.(?)" "p.(Leu568Pro)" "" "0000673602" "00025236" "70" "228" "0" "231" "0" "c.228_231dup" "r.(?)" "p.(Phe78Asnfs*27)" "" "0000673603" "00025236" "70" "878" "1" "878" "1" "c.878+1G>C" "r.spl?" "p.?" "" "0000673847" "00025236" "90" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Trp427*)" "" "0000673848" "00025236" "70" "1505" "0" "1505" "0" "c.1505T>A" "r.(?)" "p.(Leu502Gln)" "" "0000680999" "00025236" "70" "-26296" "0" "-26296" "0" "c.-26296G>C" "r.(?)" "p.(=)" "" "0000681000" "00025236" "30" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Arg615Gln)" "" "0000692454" "00025236" "30" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Gly43Asp)" "" "0000692455" "00025236" "70" "1175" "0" "1175" "0" "c.1175T>C" "r.(?)" "p.(Val392Ala)" "" "0000692456" "00025236" "50" "1241" "0" "1241" "0" "c.1241A>C" "r.(?)" "p.(Glu414Ala)" "" "0000692457" "00025236" "50" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Ala415Val)" "" "0000692458" "00025236" "30" "1389" "0" "1389" "0" "c.1389G>A" "r.(?)" "p.(Gly463=)" "" "0000697283" "00025236" "70" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Gly290Alafs*63)" "" "0000697284" "00025236" "70" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Arg366His)" "" "0000726647" "00025236" "90" "-23476" "0" "-23476" "0" "c.-23476G>A" "r.(?)" "p.(=)" "" "0000726648" "00025236" "50" "-23135" "0" "-23135" "0" "c.-23135G>A" "r.(?)" "p.(=)" "" "0000726652" "00025236" "50" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Gly76Glu)" "" "0000726653" "00025236" "50" "272" "0" "272" "0" "c.272C>A" "r.(?)" "p.(Pro91Gln)" "" "0000726654" "00025236" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ile184=)" "" "0000726655" "00025236" "30" "1473" "0" "1473" "0" "c.1473A>G" "r.(?)" "p.(Leu491=)" "" "0000726656" "00025236" "50" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Trp)" "" "0000726657" "00025236" "50" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Trp)" "" "0000808241" "00025236" "90" "104" "0" "104" "0" "c.104del" "r.(?)" "p.(Pro35LeufsTer26)" "" "0000808242" "00025236" "50" "1700" "0" "1700" "0" "c.1700G>A" "r.(?)" "p.(Arg567Gln)" "" "0000808243" "00025236" "30" "1824" "0" "1824" "0" "c.1824C>T" "r.(?)" "p.(Ile608=)" "" "0000839769" "00025236" "50" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000855080" "00025236" "30" "780" "0" "780" "0" "c.780G>A" "r.(?)" "p.(Thr260=)" "" "0000865479" "00025236" "50" "-23429" "0" "-23429" "0" "c.-23429C>T" "r.(?)" "p.(=)" "" "0000865482" "00025236" "30" "65" "0" "65" "0" "c.65C>T" "r.(?)" "p.(Ser22Leu)" "" "0000868592" "00025236" "90" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Gly254Asp)" "" "0000868593" "00025236" "90" "643" "0" "643" "0" "c.643T>C" "r.(?)" "p.(Cys215Arg)" "" "0000868594" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000868595" "00025236" "50" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Arg366His)" "" "0000868596" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000868597" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000868598" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000868599" "00025236" "90" "1220" "0" "1220" "0" "c.1220G>C" "r.(?)" "p.(Gly407Ala)" "" "0000868600" "00025236" "90" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Val174Met)" "" "0000868601" "00025236" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Trp)" "" "0000868602" "00025236" "90" "1220" "0" "1220" "0" "c.1220G>C" "r.(?)" "p.(Gly407Ala)" "" "0000868603" "00025236" "90" "996" "0" "996" "0" "c.996del" "r.(?)" "p.(Ala333ProfsTer20)" "" "0000868604" "00025236" "50" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Arg615Gln)" "" "0000868605" "00025236" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Ter)" "" "0000868606" "00025236" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Ter)" "" "0000868607" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000868608" "00025236" "50" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Arg366His)" "" "0000868609" "00025236" "50" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Arg615Gln)" "" "0000868610" "00025236" "90" "1127" "0" "1127" "0" "c.1127T>C" "r.(?)" "p.(Phe376Ser)" "" "0000868611" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000868615" "00025236" "90" "990" "0" "994" "0" "c.990_994del" "r.(?)" "p.(Lys331Cysfs*26)" "" "0000868616" "00025236" "90" "199" "0" "199" "0" "c.199A>T" "r.(?)" "p.(Lys67Ter)" "" "0000868617" "00025236" "50" "896" "0" "898" "0" "c.896_898del" "r.(?)" "p.(Lys299del)" "" "0000868618" "00025236" "90" "1102" "0" "1103" "0" "c.1102_1103del" "r.(?)" "p.(Gln368Valfs*26)" "" "0000868619" "00025236" "90" "294" "0" "297" "0" "c.294_297del" "r.(?)" "p.(Gln98Hisfs*18)" "" "0000868620" "00025236" "50" "896" "0" "898" "0" "c.896_898del" "r.(?)" "p.(Lys299del)" "" "0000868621" "00025236" "50" "896" "0" "898" "0" "c.896_898del" "r.(?)" "p.(Lys299del)" "" "0000868622" "00025236" "50" "896" "0" "898" "0" "c.896_898del" "r.(?)" "p.(Lys299del)" "" "0000868623" "00025236" "10" "515" "0" "515" "0" "c.515T>C" "r.(?)" "p.(Leu172Pro)" "" "0000868624" "00025236" "50" "643" "0" "643" "0" "c.643T>C" "r.(?)" "p.(Cys215Arg)" "" "0000868625" "00025236" "50" "1627" "0" "1627" "0" "c.1627T>C" "r.(?)" "p.(Phe543Leu)" "" "0000868626" "00025236" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Ala161Thr)" "" "0000868627" "00025236" "50" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Ala232Thr)" "" "0000868628" "00025236" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" "" "0000868629" "00025236" "70" "1322" "0" "1322" "0" "c.1322G>C" "r.(?)" "p.(Gly441Ala)" "" "0000868630" "00025236" "50" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Pro91Leu)" "" "0000894229" "00025236" "70" "-29184" "0" "-29184" "0" "c.-29184dup" "r.(?)" "p.(=)" "" "0000894230" "00025236" "90" "-23773" "0" "-23757" "0" "c.-23773_-23757del" "r.(?)" "p.(=)" "" "0000894234" "00025236" "30" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Ala212=)" "" "0000894235" "00025236" "50" "763" "0" "763" "0" "c.763C>G" "r.(?)" "p.(Leu255Val)" "" "0000894236" "00025236" "90" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Gly289Arg)" "" "0000894237" "00025236" "50" "1839" "0" "1839" "0" "c.1839G>A" "r.(?)" "p.(Arg613=)" "" "0000926633" "00025236" "50" "1567" "0" "1567" "0" "c.1567G>A" "r.(?)" "p.(Gly523Arg)" "" "0000927671" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000930880" "00025236" "50" "-25609" "0" "-25609" "0" "c.-25609C>T" "r.(?)" "p.(=)" "" "0000936006" "00025236" "90" "298" "0" "299" "0" "c.298_299del" "r.(?)" "p.(Gln100Valfs*3)" "" "0000936041" "00025236" "90" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(Asp171Glu)" "" "0000944409" "00025236" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" "" "0000951029" "00025236" "30" "-83" "0" "-83" "0" "c.-83G>C" "r.(?)" "p.(=)" "" "0000951030" "00025236" "30" "3450" "0" "3450" "0" "c.*1482G>A" "r.(=)" "p.(=)" "" "0000957826" "00025236" "50" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632Cys)" "" "0000957863" "00025236" "50" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632Cys)" "" "0000969212" "00025236" "30" "1678" "23" "1678" "23" "c.1678+23C>T" "r.(=)" "p.(=)" "" "0000982754" "00025236" "30" "-16984" "0" "-16984" "0" "c.-16984G>A" "r.(?)" "p.(=)" "" "0000982755" "00025236" "30" "-11817" "0" "-11817" "0" "c.-11817G>T" "r.(?)" "p.(=)" "" "0000982762" "00025236" "50" "-2829" "0" "-2829" "0" "c.-2829G>A" "r.(?)" "p.(=)" "" "0000982763" "00025236" "50" "-2826" "0" "-2826" "0" "c.-2826T>C" "r.(?)" "p.(=)" "" "0000982764" "00025236" "50" "-2263" "0" "-2263" "0" "c.-2263G>A" "r.(?)" "p.(=)" "" "0000982765" "00025236" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "" "0000982766" "00025236" "30" "308" "0" "308" "0" "c.308A>G" "r.(?)" "p.(Lys103Arg)" "" "0000982767" "00025236" "30" "623" "-8" "623" "-8" "c.623-8C>T" "r.(=)" "p.(=)" "" "0000982768" "00025236" "50" "818" "0" "818" "0" "c.818G>C" "r.(?)" "p.(Gly273Ala)" "" "0000982769" "00025236" "90" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Gly441Asp)" "" "0000982770" "00025236" "50" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Leu452Phe)" "" "0000982771" "00025236" "50" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Trp)" "" "0000982772" "00025236" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Trp)" "" "0000982773" "00025236" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Glu534Lys)" "" "0000988581" "00025236" "70" "887" "0" "888" "0" "c.887_888del" "r.(?)" "p.(Pro296ArgfsTer17)" "" "0000988582" "00025236" "70" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0000988583" "00025236" "50" "278" "-31" "278" "-18" "c.278-31_278-18del" "r.spl" "p.?" "" "0000988584" "00025236" "70" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Gly185Ser)" "" "0000988585" "00025236" "70" "642" "0" "643" "0" "c.642_643del" "r.(?)" "p.(Phe214LeufsTer38)" "" "0000988586" "00025236" "50" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Thr280Ala)" "" "0000988587" "00025236" "50" "878" "34" "878" "34" "c.878+34G>A" "r.spl" "p.?" "" "0000988588" "00025236" "50" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Lys299Glu)" "" "0000988589" "00025236" "50" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Ala359=)" "" "0000988590" "00025236" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Trp427Ter)" "" "0000988591" "00025236" "50" "1345" "0" "1345" "0" "c.1345G>C" "r.(?)" "p.(Glu449Gln)" "" "0001003630" "00025236" "50" "-26508" "0" "-26508" "0" "c.-26508A>G" "r.(?)" "p.(=)" "" "0001003631" "00025236" "30" "-26283" "0" "-26283" "0" "c.-26283G>A" "r.(?)" "p.(=)" "" "0001003632" "00025236" "90" "-23070" "0" "-23070" "0" "c.-23070G>A" "r.(?)" "p.(=)" "" "0001003633" "00025236" "30" "-16965" "0" "-16965" "0" "c.-16965T>C" "r.(?)" "p.(=)" "" "0001003634" "00025236" "30" "-16682" "0" "-16682" "0" "c.-16682C>G" "r.(?)" "p.(=)" "" "0001007248" "00025236" "90" "199" "0" "199" "0" "c.199A>T" "r.(?)" "p.(Lys67Ter)" "" "0001007249" "00025236" "70" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0001007250" "00025236" "70" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0001007251" "00025236" "70" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0001007252" "00025236" "70" "1174" "0" "1174" "0" "c.1174G>C" "r.(?)" "p.(Val392Leu)" "11" "0001007327" "00025236" "70" "199" "0" "199" "0" "c.199A>T" "r.(?)" "p.(Lys67Ter)" "" "0001007328" "00025236" "70" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Pro91Leu)" "" "0001007329" "00025236" "70" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Ala161Thr)" "" "0001007330" "00025236" "70" "643" "0" "643" "0" "c.643T>C" "r.(?)" "p.(Cys215Arg)" "" "0001007331" "00025236" "70" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Ala232Thr)" "" "0001007332" "00025236" "70" "896" "0" "898" "0" "c.896_898del" "r.(?)" "p.(Lys299del)" "" "0001007333" "00025236" "70" "896" "0" "898" "0" "c.896_898del" "r.(?)" "p.(Lys299del)" "" "0001007334" "00025236" "70" "896" "0" "898" "0" "c.896_898del" "r.(?)" "p.(Lys299del)" "" "0001007335" "00025236" "50" "1322" "0" "1322" "0" "c.1322G>C" "r.(?)" "p.(Gly441Ala)" "13" "0001007336" "00025236" "70" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" "0001007337" "00025236" "70" "1700" "0" "1700" "0" "c.1700G>A" "r.(?)" "p.(Arg567Gln)" "" "0001007338" "00025236" "70" "1748" "0" "1748" "0" "c.1748C>T" "r.(?)" "p.(Ser583Leu)" "" "0001007374" "00025236" "70" "1121" "0" "1121" "0" "c.1121A>C" "r.(?)" "p.(His374Pro)" "11" "0001007375" "00025236" "90" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Val387Ile)" "" "0001007376" "00025236" "90" "1752" "-2" "1755" "0" "c.1752-2_1755del" "r.?" "p.?" "18i_19" "0001017100" "00025236" "90" "104" "0" "105" "0" "c.104_105insN[10]" "r.(?)" "p.(Pro35fsTer27)" "" "0001017101" "00025236" "90" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0001017102" "00025236" "90" "103" "0" "112" "0" "c.103_112dup" "r.(?)" "p.(Arg38ProfsTer24)" "" "0001017103" "00025236" "90" "996" "0" "996" "0" "c.996dup" "r.(?)" "p.(Ala333CysfsTer26)" "" "0001017104" "00025236" "90" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0001017120" "00025236" "90" "997" "0" "998" "0" "c.997_998insT" "r.(?)" "p.(Ala333ValfsTer26)" "" "0001017122" "00025236" "90" "104" "0" "105" "0" "c.104_105insN[5]" "r.(?)" "p.(Pro35fsTer25)" "" "0001017123" "00025236" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0001017124" "00025236" "90" "552" "0" "552" "0" "c.552C>G" "r.(?)" "p.(Ile184Met)" "" "0001017137" "00025236" "90" "1770" "0" "1773" "0" "c.1770_1773del" "r.(?)" "p.(Ser590ArgfsTer89)" "" "0001017226" "00025236" "90" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Gly441Asp)" "" "0001017227" "00025236" "90" "577" "0" "577" "0" "c.577G>C" "r.(?)" "p.(Gly193Arg)" "" "0001017228" "00025236" "90" "643" "0" "643" "0" "c.643T>C" "r.(?)" "p.(Cys215Arg)" "" "0001017229" "00025236" "90" "104" "0" "104" "0" "c.104delC" "r.(?)" "p.(Pro35LeufsTer26)" "" "0001017230" "00025236" "90" "104" "0" "104" "0" "c.104delC" "r.(?)" "p.(Pro35LeufsTer26)" "" "0001017231" "00025236" "90" "1141" "0" "1143" "0" "c.1141_1143del" "r.(?)" "p.(Glu381del)" "" "0001017232" "00025236" "90" "1411" "0" "1411" "0" "c.1411T>C" "r.(?)" "p.(Phe471Leu)" "" "0001017233" "00025236" "90" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Arg469Gln)" "" "0001017234" "00025236" "90" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Gly441Asp)" "" "0001017235" "00025236" "90" "1444" "0" "1448" "0" "c.1444_1448del" "r.(?)" "p.(Lys482AlafsTer78)" "" "0001017236" "00025236" "90" "833" "0" "835" "0" "c.833_835del" "r.(?)" "p.(Lys278del)" "" "0001017237" "00025236" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0001017244" "00025236" "90" "1511" "0" "1514" "0" "c.1511_1514del" "r.(?)" "p.(Glu504_Ala505del)" "" "0001017245" "00025236" "90" "1444" "0" "1448" "0" "c.1444_1448del" "r.(?)" "p.(Lys482AlafsTer78)" "" "0001017249" "00025236" "90" "1511" "0" "1514" "0" "c.1511_1514del" "r.(?)" "p.(Glu504_Ala505del)" "" "0001027052" "00025236" "50" "1567" "0" "1567" "0" "c.1567G>A" "r.(?)" "p.(Gly523Arg)" "" "0001042144" "00025236" "50" "-16492" "0" "-16492" "0" "c.-16492G>C" "r.(?)" "p.(=)" "" "0001042149" "00025236" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Ala41Thr)" "" "0001042150" "00025236" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(=)" "" "0001042151" "00025236" "70" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Thr260Met)" "" "0001046668" "00025236" "30" "753" "-27" "753" "-27" "c.753-27C>T" "r.(=)" "p.(=)" "" "0001055798" "00025236" "70" "-23497" "0" "-23497" "0" "c.-23497G>A" "r.(?)" "p.(=)" "" "0001055799" "00025236" "30" "-15785" "0" "-15785" "0" "c.-15785T>A" "r.(?)" "p.(=)" "" "0001055800" "00025236" "50" "-2264" "0" "-2264" "0" "c.-2264C>T" "r.(?)" "p.(=)" "" "0001060836" "00025236" "90" "1700" "0" "1700" "0" "c.1700G>A" "r.(?)" "p.(Arg567Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 147 "{{screeningid}}" "{{variantid}}" "0000000012" "0000000644" "0000000055" "0000000643" "0000034703" "0000061822" "0000034704" "0000061823" "0000034705" "0000061824" "0000034706" "0000061825" "0000034707" "0000061826" "0000034708" "0000061827" "0000034709" "0000061828" "0000034710" "0000061829" "0000050345" "0000079325" "0000080959" "0000130045" "0000121995" "0000196642" "0000133446" "0000222659" "0000181958" "0000405742" "0000181958" "0000405743" "0000181959" "0000405744" "0000181959" "0000405745" "0000182011" "0000405822" "0000227407" "0000465648" "0000264220" "0000593818" "0000264220" "0000593819" "0000264221" "0000593820" "0000264221" "0000593821" "0000264222" "0000593822" "0000264222" "0000593823" "0000264223" "0000593824" "0000264223" "0000593825" "0000264224" "0000593826" "0000264224" "0000593827" "0000266375" "0000597038" "0000266375" "0000597039" "0000293001" "0000649690" "0000293002" "0000649691" "0000293003" "0000649692" "0000293004" "0000649693" "0000293005" "0000649694" "0000293006" "0000649695" "0000293007" "0000649696" "0000293008" "0000649697" "0000296594" "0000653283" "0000296595" "0000653284" "0000307062" "0000673602" "0000307062" "0000673603" "0000307257" "0000673847" "0000307257" "0000673848" "0000315194" "0000697283" "0000315195" "0000697284" "0000404151" "0000839769" "0000411465" "0000868592" "0000411466" "0000868593" "0000411467" "0000868594" "0000411467" "0000868603" "0000411468" "0000868595" "0000411468" "0000868604" "0000411469" "0000868596" "0000411470" "0000868597" "0000411470" "0000868605" "0000411471" "0000868598" "0000411471" "0000868606" "0000411472" "0000868599" "0000411472" "0000868607" "0000411473" "0000868600" "0000411473" "0000868608" "0000411473" "0000868609" "0000411474" "0000868601" "0000411474" "0000868610" "0000411475" "0000868602" "0000411475" "0000868611" "0000411479" "0000868615" "0000411480" "0000868616" "0000411481" "0000868617" "0000411482" "0000868618" "0000411483" "0000868619" "0000411484" "0000868620" "0000411485" "0000868621" "0000411486" "0000868622" "0000411487" "0000868623" "0000411488" "0000868624" "0000411489" "0000868625" "0000411490" "0000868626" "0000411491" "0000868627" "0000411492" "0000868628" "0000411493" "0000868629" "0000411494" "0000868630" "0000439877" "0000936006" "0000439877" "0000936041" "0000443050" "0000944409" "0000448419" "0000957826" "0000448456" "0000957863" "0000453819" "0000988581" "0000453820" "0000988582" "0000453821" "0000988583" "0000453822" "0000988584" "0000453823" "0000988585" "0000453824" "0000988586" "0000453825" "0000988587" "0000453826" "0000988588" "0000453827" "0000988589" "0000453828" "0000988590" "0000453829" "0000988591" "0000455215" "0001007248" "0000455215" "0001007374" "0000455216" "0001007249" "0000455217" "0001007250" "0000455218" "0001007251" "0000455218" "0001007375" "0000455219" "0001007252" "0000455219" "0001007376" "0000455294" "0001007327" "0000455295" "0001007328" "0000455296" "0001007329" "0000455297" "0001007330" "0000455298" "0001007331" "0000455299" "0001007332" "0000455300" "0001007333" "0000455301" "0001007334" "0000455302" "0001007335" "0000455303" "0001007336" "0000455304" "0001007337" "0000455305" "0001007338" "0000459178" "0001017100" "0000459178" "0001017122" "0000459179" "0001017101" "0000459180" "0001017102" "0000459180" "0001017123" "0000459181" "0001017103" "0000459181" "0001017124" "0000459182" "0001017104" "0000459198" "0001017120" "0000459198" "0001017137" "0000459260" "0001017226" "0000459261" "0001017227" "0000459262" "0001017228" "0000459263" "0001017229" "0000459264" "0001017230" "0000459265" "0001017231" "0000459266" "0001017232" "0000459267" "0001017233" "0000459268" "0001017234" "0000459269" "0001017235" "0000459269" "0001017244" "0000459270" "0001017236" "0000459271" "0001017237" "0000459271" "0001017245" "0000459271" "0001017249" "0000472346" "0001060836"