### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACAD9) # 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}}" "ACAD9" "acyl-CoA dehydrogenase family, member 9" "3" "q21.3" "unknown" "NG_017064.1" "UD_132085245407" "" "https://www.LOVD.nl/ACAD9" "" "1" "21497" "28976" "611103" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ACAD9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-04-21 17:48:31" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001936" "ACAD9" "transcript variant 1" "002" "NM_014049.4" "" "NP_054768.2" "" "" "" "-202" "2373" "1866" "128598333" "128631957" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03011" "MC1DN20" "mitochondrial complex I deficiency, nuclear type 20 (MC1DN20, acyl-CoA dehydrogenase family 9 deficiency)" "AR" "611126" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-19 07:44:35" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ACAD9" "00139" "ACAD9" "00611" "ACAD9" "03011" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00034619" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034620" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034621" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034622" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034623" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034624" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034625" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034626" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034627" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034628" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034629" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034630" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034631" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034632" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00103742" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Switzerland" "07y" "0" "" "" "Europe" "SUDS006" "00247793" "" "" "" "1" "" "03367" "" "" "M" "" "Russia" ">00y01m" "0" "" "" "" "" "00274151" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "F" "" "Poland" "" "0" "" "" "" "Pat15" "00274157" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat23" "00274181" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat53" "00293202" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293203" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293204" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293205" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293206" "" "" "" "79" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295305" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304922" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304923" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00454710" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "2-generation family, 1 affected, carrier mother" "M" "" "" "" "0" "" "" "" "NGSP23" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00103742" "05166" "00247793" "03011" "00274151" "00198" "00274157" "00198" "00274181" "00198" "00293202" "00198" "00293203" "00198" "00293204" "00198" "00293205" "00198" "00293206" "00198" "00295305" "00198" "00304922" "00198" "00304923" "00198" "00454710" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00611, 03011, 05166, 05534 ## Count = 7 "{{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}}" "0000081679" "05166" "00103742" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000187099" "03011" "00247793" "03367" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000209096" "00198" "00274151" "00006" "Familial, autosomal recessive" "" "neonatal onset; 3-MGA in urine; mitochondrial disease criteria score 4; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209102" "00198" "00274157" "00006" "Familial, autosomal recessive" "" "deceased; neonatal onset; mitochondrial disease criteria score 4; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209126" "00198" "00274181" "00006" "Familial, autosomal recessive" "" "mitochondrial disease criteria score 6; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000322143" "05166" "00103742" "01602" "Unknown" "" "SUDEP" "" "" "" "" "" "" "" "" "" "" "" "0000343338" "05534" "00454710" "00095" "Familial, autosomal recessive" "" "hypertrophic cardiomyopathy" "2y" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034689" "00034619" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034690" "00034620" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034691" "00034621" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034692" "00034622" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034693" "00034623" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034694" "00034624" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034695" "00034625" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034696" "00034626" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034697" "00034627" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034698" "00034628" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034699" "00034629" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034700" "00034630" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034701" "00034631" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034702" "00034632" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000104198" "00103742" "1" "01602" "01602" "2017-04-18 11:45:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000248901" "00247793" "1" "03367" "03367" "2019-07-18 12:56:29" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000275306" "00274151" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275312" "00274157" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275336" "00274181" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294370" "00293202" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294371" "00293203" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294372" "00293204" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294373" "00293205" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294374" "00293206" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296473" "00295305" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306051" "00304922" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306052" "00304923" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000456323" "00454710" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000034689" "ACAD9" "0000034690" "ACAD9" "0000034691" "ACAD9" "0000034692" "ACAD9" "0000034693" "ACAD9" "0000034694" "ACAD9" "0000034695" "ACAD9" "0000034696" "ACAD9" "0000034697" "ACAD9" "0000034698" "ACAD9" "0000034699" "ACAD9" "0000034700" "ACAD9" "0000034701" "ACAD9" "0000034702" "ACAD9" "0000275306" "ACAD9" "0000275312" "ACAD9" "0000275336" "ACAD9" ## 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 = 102 "{{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}}" "0000061808" "1" "50" "3" "128624982" "128624982" "subst" "8.12585E-6" "01164" "ACAD9_000002" "g.128624982G>A" "" "" "" "" "Alamut: SIFT deleterious 0,02; AGVGD C0; PolyPhen benign PSIC: 0.132" "Germline" "" "" "0" "" "" "g.128906139G>A" "" "VUS" "" "0000061809" "1" "10" "3" "128627021" "128627021" "subst" "0.367871" "01164" "ACAD9_000003" "g.128627021A>G" "Frequency up to 2%" "" "" "" "" "Germline" "" "rs1683787" "0" "" "" "g.128908178A>G" "" "benign" "" "0000061810" "1" "10" "3" "128627753" "128627753" "subst" "0" "01164" "ACAD9_000004" "g.128627753T>C" "Frequency up to 2%" "" "" "" "" "Germline" "" "rs876754" "0" "" "" "g.128908910T>C" "" "benign" "" "0000061811" "1" "10" "3" "128627933" "128627933" "subst" "0.252741" "01164" "ACAD9_000005" "g.128627933C>T" "Frequency up to 58%" "" "" "" "" "Germline" "" "rs876755" "0" "" "" "g.128909090C>T" "" "benign" "" "0000061812" "1" "50" "3" "128628253" "128628253" "subst" "8.53027E-5" "01164" "ACAD9_000006" "g.128628253C>T" "" "" "" "" "" "Germline" "" "rs150283105" "0" "" "" "g.128909410C>T" "" "VUS" "" "0000061813" "1" "50" "3" "128628813" "128628813" "subst" "0.012196" "01164" "ACAD9_000007" "g.128628813G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128909970G>A" "" "VUS" "" "0000061814" "1" "50" "3" "128629044" "128629046" "del" "0" "01164" "ACAD9_000008" "g.128629044_128629046del" "" "" "" "" "Alamut: UV" "Germline" "" "" "0" "" "" "g.128910201_128910203del" "" "VUS" "" "0000061815" "1" "50" "3" "128629506" "128629509" "dup" "0" "01164" "ACAD9_000009" "g.128629506_128629509dup" "" "" "" "" "" "Germline" "" "rs71618173" "0" "" "" "g.128910663_128910666dup" "" "VUS" "" "0000061816" "1" "50" "3" "128598330" "128598330" "subst" "0.000156684" "01164" "ACAD9_000012" "g.128598330G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128879487G>C" "" "VUS" "" "0000061817" "1" "10" "3" "128614133" "128614133" "subst" "0.515343" "01164" "ACAD9_000014" "g.128614133C>T" "Frequency up to 40%" "" "" "" "" "Germline" "" "rs1683791" "0" "" "" "g.128895290C>T" "" "benign" "" "0000061818" "1" "10" "3" "128614185" "128614185" "subst" "0.383213" "01164" "ACAD9_000010" "g.128614185A>C" "Frequency up to 10%" "" "" "" "" "Germline" "" "rs1680778" "0" "" "" "g.128895342A>C" "" "benign" "" "0000061819" "1" "50" "3" "128615202" "128615202" "subst" "0" "01164" "ACAD9_000011" "g.128615202A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128896359A>T" "" "VUS" "" "0000061820" "1" "50" "3" "128598478" "128598479" "del" "0" "01164" "ACAD9_000013" "g.128598478_128598479del" "" "" "" "" "c.-65_-64delGT; Alamut: UV" "Germline" "" "" "0" "" "" "g.128879635_128879636del" "" "VUS" "" "0000061821" "1" "50" "3" "128618360" "128618360" "subst" "0" "01164" "ACAD9_000001" "g.128618360T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128899517T>C" "" "VUS" "" "0000168855" "0" "50" "3" "128625072" "128625072" "subst" "5.28103E-5" "01602" "ACAD9_000015" "g.128625072C>T" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Unknown" "" "rs202147766" "0" "" "" "g.128906229C>T" "" "VUS" "" "0000248524" "0" "10" "3" "128614185" "128614185" "subst" "0.383213" "02325" "ACAD9_000010" "g.128614185A>C" "" "" "" "ACAD9(NM_014049.5):c.379A>C (p.R127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128895342A>C" "" "benign" "" "0000249019" "0" "10" "3" "128627021" "128627021" "subst" "0.367871" "02325" "ACAD9_000003" "g.128627021A>G" "" "" "" "ACAD9(NM_014049.5):c.1279-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128908178A>G" "" "benign" "" "0000253590" "0" "10" "3" "128622934" "128622934" "subst" "0.00211962" "01943" "ACAD9_000020" "g.128622934A>C" "" "" "" "ACAD9(NM_014049.4):c.988A>C (p.K330Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128904091A>C" "" "benign" "" "0000258870" "0" "10" "3" "128627933" "128627933" "subst" "0.252741" "02325" "ACAD9_000005" "g.128627933C>T" "" "" "" "ACAD9(NM_014049.5):c.1476C>T (p.P492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128909090C>T" "" "benign" "" "0000258871" "0" "10" "3" "128614133" "128614133" "subst" "0.515343" "02325" "ACAD9_000014" "g.128614133C>T" "" "" "" "ACAD9(NM_014049.5):c.347-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128895290C>T" "" "benign" "" "0000260478" "0" "10" "3" "128622922" "128622922" "subst" "0.0178629" "02326" "ACAD9_000019" "g.128622922G>A" "" "" "" "ACAD9(NM_014049.5):c.976G>A (p.A326T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128904079G>A" "" "benign" "" "0000261757" "0" "10" "3" "128628983" "128628983" "subst" "0.00130342" "01943" "ACAD9_000028" "g.128628983C>T" "" "" "" "ACAD9(NM_014049.4):c.1683C>T (p.H561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128910140C>T" "" "benign" "" "0000261758" "0" "50" "3" "128628984" "128628984" "subst" "4.07309E-5" "01943" "ACAD9_000029" "g.128628984G>A" "" "" "" "ACAD9(NM_014049.4):c.1684G>A (p.D562N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128910141G>A" "" "VUS" "" "0000261759" "0" "30" "3" "128621441" "128621441" "subst" "0.000710787" "01943" "ACAD9_000018" "g.128621441G>A" "" "" "" "ACAD9(NM_014049.4):c.928G>A (p.V310I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128902598G>A" "" "likely benign" "" "0000329589" "0" "50" "3" "128618135" "128618135" "subst" "0" "01804" "ACAD9_000016" "g.128618135G>C" "" "" "" "ACAD9(NM_014049.4):c.639G>C (p.(Trp213Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128899292G>C" "" "VUS" "" "0000329590" "0" "30" "3" "128620172" "128620172" "subst" "4.06055E-6" "01804" "ACAD9_000017" "g.128620172G>C" "" "" "" "ACAD9(NM_014049.4):c.862G>C (p.(Glu288Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128901329G>C" "" "likely benign" "" "0000329591" "0" "50" "3" "128627047" "128627047" "subst" "4.06157E-6" "01804" "ACAD9_000021" "g.128627047G>A" "" "" "" "ACAD9(NM_014049.4):c.1298G>A (p.(Arg433Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128908204G>A" "" "VUS" "" "0000329592" "0" "50" "3" "128627080" "128627080" "subst" "0.000609285" "01804" "ACAD9_000022" "g.128627080C>T" "" "" "" "ACAD9(NM_014049.4):c.1331C>T (p.(Ala444Val)), ACAD9(NM_014049.5):c.1331C>T (p.A444V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128908237C>T" "" "VUS" "" "0000329593" "0" "50" "3" "128627911" "128627911" "subst" "0" "01804" "ACAD9_000024" "g.128627911G>A" "" "" "" "ACAD9(NM_014049.4):c.1454G>A (p.(Gly485Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128909068G>A" "" "VUS" "" "0000329594" "0" "50" "3" "128627941" "128627941" "subst" "1.62986E-5" "01804" "ACAD9_000025" "g.128627941C>T" "" "" "" "ACAD9(NM_014049.4):c.1484C>T (p.(Ala495Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128909098C>T" "" "VUS" "" "0000329595" "0" "50" "3" "128628183" "128628183" "subst" "8.1213E-6" "01804" "ACAD9_000026" "g.128628183A>G" "" "" "" "ACAD9(NM_014049.4):c.1486-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128909340A>G" "" "VUS" "" "0000329596" "0" "90" "3" "128628895" "128628895" "subst" "8.17434E-6" "01804" "ACAD9_000027" "g.128628895G>A" "" "" "" "ACAD9(NM_014049.5):c.1595G>A (p.(Arg532Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128910052G>A" "" "pathogenic" "" "0000517792" "0" "10" "3" "128598491" "128598494" "dup" "0" "02325" "ACAD9_000030" "g.128598491_128598494dup" "" "" "" "ACAD9(NM_014049.5):c.-44_-41dupTAAG, ACAD9(NR_033426.1):n.158_159insTAAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128879648_128879651dup" "" "benign" "" "0000517793" "0" "30" "3" "128598491" "128598494" "dup" "0" "02326" "ACAD9_000030" "g.128598491_128598494dup" "" "" "" "ACAD9(NM_014049.5):c.-44_-41dupTAAG, ACAD9(NR_033426.1):n.158_159insTAAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128879648_128879651dup" "" "likely benign" "" "0000517794" "0" "30" "3" "128598580" "128598580" "subst" "4.13897E-6" "01804" "ACAD9_000031" "g.128598580G>A" "" "" "" "ACAD9(NM_014049.4):c.46G>A (p.(Ala16Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128879737G>A" "" "likely benign" "" "0000517795" "0" "50" "3" "128598625" "128598625" "subst" "5.77129E-5" "01943" "ACAD9_000032" "g.128598625C>T" "" "" "" "ACAD9(NM_014049.4):c.91C>T (p.R31C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128879782C>T" "" "VUS" "" "0000517796" "0" "50" "3" "128603497" "128603497" "subst" "0.000227729" "01943" "ACAD9_000033" "g.128603497A>T" "" "" "" "ACAD9(NM_014049.4):c.152A>T (p.K51I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128884654A>T" "" "VUS" "" "0000517797" "0" "50" "3" "128603551" "128603551" "subst" "1.62451E-5" "01943" "ACAD9_000034" "g.128603551A>G" "" "" "" "ACAD9(NM_014049.4):c.206A>G (p.Q69R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128884708A>G" "" "VUS" "" "0000517798" "0" "30" "3" "128614228" "128614228" "subst" "7.03026E-5" "01943" "ACAD9_000035" "g.128614228C>T" "" "" "" "ACAD9(NM_014049.4):c.422C>T (p.T141I), ACAD9(NM_014049.5):c.422C>T (p.(Thr141Ile), p.T141I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128895385C>T" "" "likely benign" "" "0000517799" "0" "30" "3" "128615338" "128615338" "subst" "6.90383E-5" "02325" "ACAD9_000036" "g.128615338C>T" "" "" "" "ACAD9(NM_014049.5):c.513C>T (p.S171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128896495C>T" "" "likely benign" "" "0000517800" "0" "50" "3" "128622902" "128622902" "subst" "0" "01943" "ACAD9_000038" "g.128622902C>G" "" "" "" "ACAD9(NM_014049.4):c.959-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128904059C>G" "" "VUS" "" "0000517802" "0" "10" "3" "128622922" "128622922" "subst" "0.0178629" "02325" "ACAD9_000019" "g.128622922G>A" "" "" "" "ACAD9(NM_014049.5):c.976G>A (p.A326T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128904079G>A" "" "benign" "" "0000517803" "0" "30" "3" "128623358" "128623358" "subst" "4.08463E-6" "01943" "ACAD9_000039" "g.128623358G>A" "" "" "" "ACAD9(NM_014049.4):c.1149+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128904515G>A" "" "likely benign" "" "0000517804" "0" "30" "3" "128625035" "128625035" "subst" "0.000178701" "01943" "ACAD9_000040" "g.128625035A>G" "" "" "" "ACAD9(NM_014049.4):c.1221A>G (p.T407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128906192A>G" "" "likely benign" "" "0000517805" "0" "30" "3" "128627057" "128627057" "subst" "4.87377E-5" "01943" "ACAD9_000041" "g.128627057C>T" "" "" "" "ACAD9(NM_014049.4):c.1308C>T (p.I436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128908214C>T" "" "likely benign" "" "0000517808" "0" "30" "3" "128629597" "128629597" "subst" "2.43639E-5" "01804" "ACAD9_000044" "g.128629597A>G" "" "" "" "ACAD9(NM_014049.4):c.1706A>G (p.(Asn569Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128910754A>G" "" "likely benign" "" "0000577927" "3" "70" "3" "128618155" "128618155" "subst" "0" "03367" "ACAD9_000037" "g.128618155C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128899312C>T" "" "likely pathogenic (recessive)" "" "0000608294" "0" "30" "3" "128598549" "128598549" "subst" "2.46318E-5" "01943" "ACAD9_000045" "g.128598549G>T" "" "" "" "ACAD9(NM_014049.4):c.15G>T (p.G5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128879706G>T" "" "likely benign" "" "0000608295" "0" "30" "3" "128603546" "128603546" "subst" "0" "01943" "ACAD9_000046" "g.128603546C>A" "" "" "" "ACAD9(NM_014049.4):c.201C>A (p.I67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128884703C>A" "" "likely benign" "" "0000608296" "0" "50" "3" "128614151" "128614151" "subst" "0" "02327" "ACAD9_000047" "g.128614151A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128895308A>G" "" "VUS" "" "0000608297" "0" "70" "3" "128614248" "128614248" "subst" "0.000157851" "02327" "ACAD9_000048" "g.128614248A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128895405A>G" "" "likely pathogenic" "" "0000608298" "0" "30" "3" "128618171" "128618171" "subst" "3.24855E-5" "01943" "ACAD9_000051" "g.128618171G>A" "" "" "" "ACAD9(NM_014049.4):c.675G>A (p.V225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128899328G>A" "" "likely benign" "" "0000608299" "0" "30" "3" "128618324" "128618324" "subst" "0.000543407" "02327" "ACAD9_000052" "g.128618324G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128899481G>A" "" "likely benign" "" "0000608300" "0" "30" "3" "128621425" "128621425" "subst" "4.06108E-6" "01943" "ACAD9_000053" "g.128621425G>A" "" "" "" "ACAD9(NM_014049.4):c.912G>A (p.R304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128902582G>A" "" "likely benign" "" "0000608301" "0" "30" "3" "128623278" "128623278" "subst" "0" "02327" "ACAD9_000055" "g.128623278C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128904435C>G" "" "likely benign" "" "0000608302" "0" "50" "3" "128623296" "128623296" "subst" "4.06111E-6" "02327" "ACAD9_000056" "g.128623296T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128904453T>C" "" "VUS" "" "0000608303" "0" "50" "3" "128623330" "128623330" "subst" "0" "02327" "ACAD9_000057" "g.128623330C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128904487C>G" "" "VUS" "" "0000608304" "0" "30" "3" "128625035" "128625035" "subst" "0.000178701" "02327" "ACAD9_000040" "g.128625035A>G" "" "" "" "ACAD9(NM_014049.4):c.1221A>G (p.T407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128906192A>G" "" "likely benign" "" "0000608305" "0" "50" "3" "128627061" "128627061" "subst" "0" "02327" "ACAD9_000058" "g.128627061C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128908218C>G" "" "VUS" "" "0000608306" "0" "50" "3" "128627086" "128627086" "subst" "6.9063E-5" "01943" "ACAD9_000059" "g.128627086G>A" "" "" "" "ACAD9(NM_014049.4):c.1337G>A (p.R446H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128908243G>A" "" "VUS" "" "0000608307" "0" "30" "3" "128627848" "128627848" "subst" "0" "02327" "ACAD9_000060" "g.128627848T>C" "" "" "" "ACAD9(NM_014049.5):c.1391T>C (p.(Met464Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128909005T>C" "" "likely benign" "" "0000608308" "0" "50" "3" "128627931" "128627931" "subst" "4.06914E-6" "02325" "ACAD9_000061" "g.128627931C>T" "" "" "" "ACAD9(NM_014049.5):c.1474C>T (p.P492S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128909088C>T" "" "VUS" "" "0000608309" "0" "30" "3" "128628896" "128628896" "subst" "2.04267E-5" "02327" "ACAD9_000062" "g.128628896G>C" "" "" "" "ACAD9(NM_014049.4):c.1596G>C (p.R532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128910053G>C" "" "likely benign" "" "0000608310" "0" "30" "3" "128628975" "128628975" "subst" "0.000659738" "01943" "ACAD9_000063" "g.128628975C>A" "" "" "" "ACAD9(NM_014049.4):c.1675C>A (p.R559S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128910132C>A" "" "likely benign" "" "0000621168" "0" "50" "3" "128616475" "128616475" "subst" "8.98524E-5" "01943" "ACAD9_000049" "g.128616475T>G" "" "" "" "ACAD9(NM_014049.4):c.555T>G (p.S185R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128897632T>G" "" "VUS" "" "0000621169" "0" "30" "3" "128616481" "128616481" "subst" "3.67278E-5" "01943" "ACAD9_000050" "g.128616481C>T" "" "" "" "ACAD9(NM_014049.4):c.561C>T (p.S187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128897638C>T" "" "likely benign" "" "0000621170" "0" "50" "3" "128621432" "128621432" "subst" "3.65506E-5" "01943" "ACAD9_000054" "g.128621432A>G" "" "" "" "ACAD9(NM_014049.4):c.919A>G (p.M307V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128902589A>G" "" "VUS" "" "0000629270" "21" "90" "3" "128615339" "128615339" "subst" "8.12275E-6" "00006" "ACAD9_000064" "g.128615339G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.128896496G>A" "" "pathogenic" "" "0000629276" "21" "90" "3" "128628253" "128628253" "subst" "8.53027E-5" "00006" "ACAD9_000006" "g.128628253C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.128909410C>T" "" "pathogenic" "" "0000629300" "0" "90" "3" "128618224" "128618224" "subst" "8.12143E-6" "00006" "ACAD9_000065" "g.128618224C>G" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128899381C>G" "" "pathogenic" "" "0000629337" "11" "90" "3" "128618299" "128618299" "subst" "8.12387E-6" "00006" "ACAD9_000066" "g.128618299C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.128899456C>T" "" "pathogenic" "" "0000629340" "11" "90" "3" "128628254" "128628254" "subst" "8.12539E-6" "00006" "ACAD9_000067" "g.128628254G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.128909411G>A" "" "pathogenic" "" "0000629348" "21" "90" "3" "128628253" "128628253" "subst" "8.53027E-5" "00006" "ACAD9_000006" "g.128628253C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.128909410C>T" "" "pathogenic" "" "0000651059" "1" "50" "3" "128622922" "128622922" "subst" "0.0178629" "03575" "ACAD9_000019" "g.128622922G>A" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 20 heterozygous; {DB:CLININrs115532916.1}" "Germline" "" "rs115532916" "0" "" "" "g.128904079G>A" "" "VUS" "" "0000651060" "1" "30" "3" "128622934" "128622934" "subst" "0.00211962" "03575" "ACAD9_000020" "g.128622934A>C" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs79530903}" "Germline" "" "rs79530903" "0" "" "" "g.128904091A>C" "" "likely benign" "" "0000651061" "1" "70" "3" "128625051" "128625051" "subst" "1.62464E-5" "03575" "ACAD9_000069" "g.128625051G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs149753643}" "Germline" "" "rs149753643" "0" "" "" "g.128906208G>A" "" "likely pathogenic" "" "0000651062" "1" "30" "3" "128627887" "128627887" "subst" "0.012994" "03575" "ACAD9_000042" "g.128627887G>A" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous; {DB:CLININrs4494951}" "Germline" "" "rs4494951" "0" "" "" "g.128909044G>A" "" "likely benign" "" "0000651063" "1" "10" "3" "128631481" "128631481" "subst" "0.032691" "03575" "ACAD9_000070" "g.128631481G>A" "79/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "79 heterozygous, no homozygous; {DB:CLININrs9830739}" "Germline" "" "rs9830739" "0" "" "" "g.128912638G>A" "" "benign" "" "0000653162" "1" "90" "3" "128623228" "128623228" "subst" "4.06131E-6" "03575" "ACAD9_000068" "g.128623228G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs773586510}" "Germline" "" "rs773586510" "0" "" "" "g.128904385G>T" "" "pathogenic" "" "0000654794" "0" "30" "3" "128624978" "128624978" "subst" "0.000154402" "01943" "ACAD9_000072" "g.128624978G>A" "" "" "" "ACAD9(NM_014049.4):c.1164G>A (p.E388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128906135G>A" "" "likely benign" "" "0000669739" "3" "50" "3" "128622922" "128622922" "subst" "0.0178629" "03575" "ACAD9_000019" "g.128622922G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs115532916.1}" "Germline" "" "rs115532916" "0" "" "" "g.128904079G>A" "" "VUS" "" "0000669740" "3" "30" "3" "128627887" "128627887" "subst" "0.012994" "03575" "ACAD9_000042" "g.128627887G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs4494951}" "Germline" "" "rs4494951" "0" "" "" "g.128909044G>A" "" "likely benign" "" "0000676809" "0" "30" "3" "128622902" "128622902" "subst" "0" "02325" "ACAD9_000073" "g.128622902C>T" "" "" "" "ACAD9(NM_014049.5):c.959-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688923" "0" "50" "3" "128616510" "128616510" "subst" "4.06775E-6" "01943" "ACAD9_000074" "g.128616510C>T" "" "" "" "ACAD9(NM_014049.4):c.590C>T (p.T197I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688924" "0" "90" "3" "128618223" "128618223" "del" "0" "02325" "ACAD9_000075" "g.128618223del" "" "" "" "ACAD9(NM_014049.5):c.727delA (p.T243Qfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688925" "0" "30" "3" "128628896" "128628896" "subst" "2.04267E-5" "01943" "ACAD9_000062" "g.128628896G>C" "" "" "" "ACAD9(NM_014049.4):c.1596G>C (p.R532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688926" "0" "30" "3" "128628932" "128628932" "subst" "6.9381E-5" "01943" "ACAD9_000076" "g.128628932G>A" "" "" "" "ACAD9(NM_014049.4):c.1632G>A (p.T544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719175" "0" "30" "3" "128614267" "128614267" "subst" "0.00109591" "01943" "ACAD9_000077" "g.128614267A>G" "" "" "" "ACAD9(NM_014049.4):c.453+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800957" "0" "50" "3" "128614228" "128614228" "subst" "7.03026E-5" "02325" "ACAD9_000035" "g.128614228C>T" "" "" "" "ACAD9(NM_014049.4):c.422C>T (p.T141I), ACAD9(NM_014049.5):c.422C>T (p.(Thr141Ile), p.T141I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800958" "0" "30" "3" "128614238" "128614238" "subst" "0.000104779" "01943" "ACAD9_000078" "g.128614238G>A" "" "" "" "ACAD9(NM_014049.4):c.432G>A (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800959" "0" "30" "3" "128615335" "128615335" "subst" "0.000402044" "01943" "ACAD9_000079" "g.128615335G>A" "" "" "" "ACAD9(NM_014049.4):c.510G>A (p.A170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850126" "0" "30" "3" "128628964" "128628964" "subst" "0" "01943" "ACAD9_000080" "g.128628964G>T" "" "" "" "ACAD9(NM_014049.4):c.1664G>T (p.R555L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885540" "0" "70" "3" "128615364" "128615364" "subst" "0" "02327" "ACAD9_000081" "g.128615364T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885541" "0" "90" "3" "128622922" "128622922" "subst" "5.27889E-5" "02327" "ACAD9_000082" "g.128622922G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885543" "0" "50" "3" "128629623" "128629623" "subst" "0" "02329" "ACAD9_000083" "g.128629623C>G" "" "" "" "ACAD9(NM_014049.5):c.1732C>G (p.Q578E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911825" "0" "30" "3" "128627080" "128627080" "subst" "0.000609285" "02325" "ACAD9_000022" "g.128627080C>T" "" "" "" "ACAD9(NM_014049.4):c.1331C>T (p.(Ala444Val)), ACAD9(NM_014049.5):c.1331C>T (p.A444V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911826" "0" "10" "3" "128631481" "128631481" "subst" "0.032691" "02325" "ACAD9_000070" "g.128631481G>A" "" "" "" "ACAD9(NM_014049.5):c.*31G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975557" "0" "50" "3" "128614228" "128614228" "subst" "7.03026E-5" "01804" "ACAD9_000035" "g.128614228C>T" "" "" "" "ACAD9(NM_014049.4):c.422C>T (p.T141I), ACAD9(NM_014049.5):c.422C>T (p.(Thr141Ile), p.T141I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975558" "0" "50" "3" "128627848" "128627848" "subst" "0" "01804" "ACAD9_000060" "g.128627848T>C" "" "" "" "ACAD9(NM_014049.5):c.1391T>C (p.(Met464Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975559" "0" "50" "3" "128628931" "128628931" "subst" "9.7976E-5" "01804" "ACAD9_000084" "g.128628931C>T" "" "" "" "ACAD9(NM_014049.5):c.1631C>T (p.(Thr544Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008569" "3" "90" "3" "128625054" "128625054" "subst" "1.21851E-5" "00095" "ACAD9_000085" "g.128625054C>T" "" "{PMID:Legati 2016:26968897}" "" "R414C" "" "Germline" "" "" "0" "" "" "g.128906211C>T" "" "pathogenic" "" "0001033659" "0" "50" "3" "128614245" "128614245" "subst" "8.46038E-6" "01804" "ACAD9_000086" "g.128614245G>A" "" "" "" "ACAD9(NM_014049.5):c.439G>A (p.(Ala147Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ACAD9 ## Count = 102 "{{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}}" "0000061808" "00001936" "50" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Ala390Thr)" "" "0000061809" "00001936" "10" "1279" "-7" "1279" "-7" "c.1279-7A>G" "r.(=)" "p.(=)" "" "0000061810" "00001936" "10" "1359" "-63" "1359" "-63" "c.1359-63T>C" "r.(=)" "p.(=)" "" "0000061811" "00001936" "10" "1476" "0" "1476" "0" "c.1476C>T" "r.(=)" "p.(=)" "" "0000061812" "00001936" "50" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Cys)" "" "0000061813" "00001936" "50" "1564" "-51" "1564" "-51" "c.1564-51G>A" "r.(=)" "p.(=)" "" "0000061814" "00001936" "50" "1692" "52" "1692" "54" "c.1692+52_1692+54del" "r.(=)" "p.(=)" "" "0000061815" "00001936" "50" "1693" "-78" "1693" "-75" "c.1693-78_1693-75dup" "r.(=)" "p.(=)" "" "0000061816" "00001936" "50" "-205" "0" "-205" "0" "c.-205G>C" "r.spl?" "p.(=)" "" "0000061817" "00001936" "10" "347" "-20" "347" "-20" "c.347-20C>T" "r.(=)" "p.(=)" "" "0000061818" "00001936" "10" "379" "0" "379" "0" "c.379A>C" "r.(=)" "p.(=)" "" "0000061819" "00001936" "50" "454" "-77" "454" "-77" "c.454-77A>T" "r.(=)" "p.(=)" "" "0000061820" "00001936" "50" "-57" "0" "-56" "0" "c.-57_-56del" "r.(=)" "p.(=)" "" "0000061821" "00001936" "50" "808" "56" "808" "56" "c.808+56T>C" "r.(=)" "p.(=)" "" "0000168855" "00001936" "50" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Cys)" "12" "0000248524" "00001936" "10" "379" "0" "379" "0" "c.379A>C" "r.(?)" "p.(Arg127=)" "" "0000249019" "00001936" "10" "1279" "-7" "1279" "-7" "c.1279-7A>G" "r.(=)" "p.(=)" "" "0000253590" "00001936" "10" "988" "0" "988" "0" "c.988A>C" "r.(?)" "p.(Lys330Gln)" "" "0000258870" "00001936" "10" "1476" "0" "1476" "0" "c.1476C>T" "r.(?)" "p.(Pro492=)" "" "0000258871" "00001936" "10" "347" "-20" "347" "-20" "c.347-20C>T" "r.(=)" "p.(=)" "" "0000260478" "00001936" "10" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "" "0000261757" "00001936" "10" "1683" "0" "1683" "0" "c.1683C>T" "r.(?)" "p.(His561=)" "" "0000261758" "00001936" "50" "1684" "0" "1684" "0" "c.1684G>A" "r.(?)" "p.(Asp562Asn)" "" "0000261759" "00001936" "30" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Val310Ile)" "" "0000329589" "00001936" "50" "639" "0" "639" "0" "c.639G>C" "r.(?)" "p.(Trp213Cys)" "" "0000329590" "00001936" "30" "862" "0" "862" "0" "c.862G>C" "r.(?)" "p.(Glu288Gln)" "" "0000329591" "00001936" "50" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433Gln)" "" "0000329592" "00001936" "50" "1331" "0" "1331" "0" "c.1331C>T" "r.(?)" "p.(Ala444Val)" "" "0000329593" "00001936" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Gly485Asp)" "" "0000329594" "00001936" "50" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "" "0000329595" "00001936" "50" "1486" "-4" "1486" "-4" "c.1486-4A>G" "r.spl?" "p.?" "" "0000329596" "00001936" "90" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532Gln)" "" "0000517792" "00001936" "10" "-44" "0" "-41" "0" "c.-44_-41dup" "r.(?)" "p.(=)" "" "0000517793" "00001936" "30" "-44" "0" "-41" "0" "c.-44_-41dup" "r.(?)" "p.(=)" "" "0000517794" "00001936" "30" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Ala16Thr)" "" "0000517795" "00001936" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Cys)" "" "0000517796" "00001936" "50" "152" "0" "152" "0" "c.152A>T" "r.(?)" "p.(Lys51Ile)" "" "0000517797" "00001936" "50" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(Gln69Arg)" "" "0000517798" "00001936" "30" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Ile)" "" "0000517799" "00001936" "30" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Ser171=)" "" "0000517800" "00001936" "50" "959" "-3" "959" "-3" "c.959-3C>G" "r.spl?" "p.?" "" "0000517802" "00001936" "10" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "" "0000517803" "00001936" "30" "1149" "10" "1149" "10" "c.1149+10G>A" "r.(=)" "p.(=)" "" "0000517804" "00001936" "30" "1221" "0" "1221" "0" "c.1221A>G" "r.(?)" "p.(Thr407=)" "" "0000517805" "00001936" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(Ile436=)" "" "0000517808" "00001936" "30" "1706" "0" "1706" "0" "c.1706A>G" "r.(?)" "p.(Asn569Ser)" "" "0000577927" "00001936" "70" "659" "0" "659" "0" "c.659C>T" "r.(?)" "p.(Ala220Val)" "7" "0000608294" "00001936" "30" "15" "0" "15" "0" "c.15G>T" "r.(?)" "p.(Gly5=)" "" "0000608295" "00001936" "30" "201" "0" "201" "0" "c.201C>A" "r.(?)" "p.(Ile67=)" "" "0000608296" "00001936" "50" "347" "-2" "347" "-2" "c.347-2A>G" "r.spl?" "p.?" "" "0000608297" "00001936" "70" "442" "0" "442" "0" "c.442A>G" "r.(?)" "p.(Ile148Val)" "" "0000608298" "00001936" "30" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Val225=)" "" "0000608299" "00001936" "30" "808" "20" "808" "20" "c.808+20G>A" "r.(=)" "p.(=)" "" "0000608300" "00001936" "30" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Arg304=)" "" "0000608301" "00001936" "30" "1079" "0" "1079" "0" "c.1079C>G" "r.(?)" "p.(Thr360Ser)" "" "0000608302" "00001936" "50" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Met366Thr)" "" "0000608303" "00001936" "50" "1131" "0" "1131" "0" "c.1131C>G" "r.(?)" "p.(Ile377Met)" "" "0000608304" "00001936" "30" "1221" "0" "1221" "0" "c.1221A>G" "r.(?)" "p.(Thr407=)" "" "0000608305" "00001936" "50" "1312" "0" "1312" "0" "c.1312C>G" "r.(?)" "p.(Leu438Val)" "" "0000608306" "00001936" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446His)" "" "0000608307" "00001936" "30" "1391" "0" "1391" "0" "c.1391T>C" "r.(?)" "p.(Met464Thr)" "" "0000608308" "00001936" "50" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Pro492Ser)" "" "0000608309" "00001936" "30" "1596" "0" "1596" "0" "c.1596G>C" "r.(?)" "p.(Arg532=)" "" "0000608310" "00001936" "30" "1675" "0" "1675" "0" "c.1675C>A" "r.(?)" "p.(Arg559Ser)" "" "0000621168" "00001936" "50" "555" "0" "555" "0" "c.555T>G" "r.(?)" "p.(Ser185Arg)" "" "0000621169" "00001936" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Ser187=)" "" "0000621170" "00001936" "50" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Met307Val)" "" "0000629270" "00001936" "90" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Arg)" "" "0000629276" "00001936" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Cys)" "" "0000629300" "00001936" "90" "728" "0" "728" "0" "c.728C>G" "r.(?)" "p.(Thr243Arg)" "" "0000629337" "00001936" "90" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Ser268Phe)" "" "0000629340" "00001936" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "" "0000629348" "00001936" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Cys)" "" "0000651059" "00001936" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "" "0000651060" "00001936" "30" "988" "0" "988" "0" "c.988A>C" "r.(?)" "p.(Lys330Gln)" "" "0000651061" "00001936" "70" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Glu413Lys)" "" "0000651062" "00001936" "30" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Arg477Gln)" "" "0000651063" "00001936" "10" "1897" "0" "1897" "0" "c.*31G>A" "r.(=)" "p.(=)" "" "0000653162" "00001936" "90" "1030" "-1" "1030" "-1" "c.1030-1G>T" "r.spl?" "p.?" "" "0000654794" "00001936" "30" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Glu388=)" "" "0000669739" "00001936" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "" "0000669740" "00001936" "30" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Arg477Gln)" "" "0000676809" "00001936" "30" "959" "-3" "959" "-3" "c.959-3C>T" "r.spl?" "p.?" "" "0000688923" "00001936" "50" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Thr197Ile)" "" "0000688924" "00001936" "90" "727" "0" "727" "0" "c.727del" "r.(?)" "p.(Thr243GlnfsTer4)" "" "0000688925" "00001936" "30" "1596" "0" "1596" "0" "c.1596G>C" "r.(?)" "p.(Arg532=)" "" "0000688926" "00001936" "30" "1632" "0" "1632" "0" "c.1632G>A" "r.(?)" "p.(Thr544=)" "" "0000719175" "00001936" "30" "453" "8" "453" "8" "c.453+8A>G" "r.(=)" "p.(=)" "" "0000800957" "00001936" "50" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Ile)" "" "0000800958" "00001936" "30" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Ala144=)" "" "0000800959" "00001936" "30" "510" "0" "510" "0" "c.510G>A" "r.(?)" "p.(Ala170=)" "" "0000850126" "00001936" "30" "1664" "0" "1664" "0" "c.1664G>T" "r.(?)" "p.(Arg555Leu)" "" "0000885540" "00001936" "70" "539" "0" "539" "0" "c.539T>G" "r.(?)" "p.(Leu180Arg)" "" "0000885541" "00001936" "90" "976" "0" "976" "0" "c.976G>C" "r.(?)" "p.(Ala326Pro)" "" "0000885543" "00001936" "50" "1732" "0" "1732" "0" "c.1732C>G" "r.(?)" "p.(Gln578Glu)" "" "0000911825" "00001936" "30" "1331" "0" "1331" "0" "c.1331C>T" "r.(?)" "p.(Ala444Val)" "" "0000911826" "00001936" "10" "1897" "0" "1897" "0" "c.*31G>A" "r.(=)" "p.(=)" "" "0000975557" "00001936" "50" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Ile)" "" "0000975558" "00001936" "50" "1391" "0" "1391" "0" "c.1391T>C" "r.(?)" "p.(Met464Thr)" "" "0000975559" "00001936" "50" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Thr544Met)" "" "0001008569" "00001936" "90" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Arg414Cys)" "" "0001033659" "00001936" "50" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Ala147Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000034689" "0000061808" "0000034690" "0000061809" "0000034691" "0000061810" "0000034692" "0000061811" "0000034693" "0000061812" "0000034694" "0000061813" "0000034695" "0000061814" "0000034696" "0000061815" "0000034697" "0000061816" "0000034698" "0000061817" "0000034699" "0000061818" "0000034700" "0000061819" "0000034701" "0000061820" "0000034702" "0000061821" "0000104198" "0000168855" "0000248901" "0000577927" "0000275306" "0000629270" "0000275306" "0000629337" "0000275312" "0000629276" "0000275312" "0000629340" "0000275336" "0000629300" "0000275336" "0000629348" "0000294370" "0000651059" "0000294371" "0000651060" "0000294372" "0000651061" "0000294373" "0000651062" "0000294374" "0000651063" "0000296473" "0000653162" "0000306051" "0000669739" "0000306052" "0000669740" "0000456323" "0001008569"