### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACOT9) # 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}}" "ACOT9" "acyl-CoA thioesterase 9" "X" "p22.11" "unknown" "NC_000023.10" "UD_132085356055" "" "https://www.LOVD.nl/ACOT9" "" "1" "17152" "23597" "300862" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. 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/ACOT9_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2025-01-29 16:48:16" "00000" "2025-02-07 18:57:27" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000496" "ACOT9" "transcript variant 2" "001" "NM_001033583.2" "" "NP_001028755.2" "" "" "" "-146" "1554" "1320" "23721777" "23761407" "00000" "2012-09-13 12:23:58" "" "" "00025976" "ACOT9" "transcript variant 1" "003" "NM_001037171.1" "" "NP_001032248.1" "" "" "" "-146" "1581" "1347" "23761407" "23721777" "00006" "2025-01-29 16:44:45" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00172357" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172358" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172359" "" "" "" "36" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172360" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172361" "" "" "" "5" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00172357" "00187" "00172358" "00187" "00172359" "00187" "00172360" "00187" "00172361" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000137221" "00187" "00172357" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137222" "00187" "00172358" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137223" "00187" "00172359" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137224" "00187" "00172360" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137225" "00187" "00172361" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000173240" "00172357" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173241" "00172358" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173242" "00172359" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173243" "00172360" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173244" "00172361" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000173240" "ACOT9" "0000173241" "ACOT9" "0000173242" "ACOT9" "0000173243" "ACOT9" "0000173244" "ACOT9" ## 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 = 44 "{{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}}" "0000001830" "0" "50" "X" "23724696" "23724697" "dup" "0" "00037" "ACOT9_000006" "g.23724696_23724697dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23706579_23706580dup" "" "VUS" "" "0000001831" "0" "50" "X" "23724697" "23724697" "dup" "0" "00037" "ACOT9_000004" "g.23724697dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23706580dup" "" "VUS" "" "0000006487" "20" "50" "X" "23723261" "23723261" "subst" "0" "00037" "ACOT9_000001" "g.23723261T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23705144T>C" "" "VUS" "" "0000006488" "20" "50" "X" "23739857" "23739857" "subst" "0" "00037" "ACOT9_000009" "g.23739857A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23721740A>G" "" "VUS" "" "0000006489" "20" "50" "X" "23740537" "23740537" "subst" "0" "00037" "ACOT9_000012" "g.23740537C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23722420C>T" "" "VUS" "" "0000006490" "20" "50" "X" "23740644" "23740644" "subst" "0" "00037" "ACOT9_000014" "g.23740644A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23722527A>G" "" "VUS" "" "0000006491" "20" "50" "X" "23754507" "23754507" "subst" "0" "00037" "ACOT9_000020" "g.23754507G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23736390G>A" "" "VUS" "" "0000006492" "20" "50" "X" "23761122" "23761122" "subst" "0" "00037" "ACOT9_000022" "g.23761122A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23743005A>C" "" "VUS" "" "0000008539" "20" "50" "X" "23723261" "23723261" "subst" "0" "00037" "ACOT9_000001" "g.23723261T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23705144T>C" "" "VUS" "" "0000008540" "0" "50" "X" "23724695" "23724697" "dup" "0" "00037" "ACOT9_000007" "g.23724695_23724697dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23706578_23706580dup" "" "VUS" "" "0000008541" "0" "50" "X" "23724697" "23724697" "dup" "0" "00037" "ACOT9_000004" "g.23724697dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23706580dup" "" "VUS" "" "0000008542" "20" "50" "X" "23739857" "23739857" "subst" "0" "00037" "ACOT9_000009" "g.23739857A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23721740A>G" "" "VUS" "" "0000008543" "20" "50" "X" "23740644" "23740644" "subst" "0" "00037" "ACOT9_000014" "g.23740644A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23722527A>G" "" "VUS" "" "0000008544" "0" "50" "X" "23740695" "23740695" "dup" "0" "00037" "ACOT9_000017" "g.23740695dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23722578dup" "" "VUS" "" "0000008545" "20" "50" "X" "23748389" "23748389" "subst" "0" "00037" "ACOT9_000018" "g.23748389T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23730272T>C" "" "VUS" "" "0000014450" "20" "50" "X" "23739761" "23739761" "subst" "0" "00037" "ACOT9_000008" "g.23739761A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23721644A>G" "" "VUS" "" "0000014452" "20" "50" "X" "23740537" "23740537" "subst" "0" "00037" "ACOT9_000012" "g.23740537C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23722420C>T" "" "VUS" "" "0000014455" "20" "50" "X" "23754507" "23754507" "subst" "0" "00037" "ACOT9_000020" "g.23754507G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23736390G>A" "" "VUS" "" "0000256300" "0" "50" "X" "23740098" "23740098" "subst" "0" "01943" "ACOT9_000028" "g.23740098A>G" "" "" "" "ACOT9(NM_001037171.1):c.488T>C (p.M163T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23721981A>G" "" "VUS" "" "0000260491" "0" "30" "X" "23754111" "23754111" "subst" "0" "02326" "ACOT9_000030" "g.23754111G>A" "" "" "" "ACOT9(NM_001037171.2):c.43C>T (p.Q15*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23735994G>A" "" "likely benign" "" "0000260492" "0" "30" "X" "23731321" "23731321" "subst" "0.00298408" "02326" "ACOT9_000026" "g.23731321T>C" "" "" "" "ACOT9(NM_001033583.2):c.566A>G (p.(His189Arg)), ACOT9(NM_001037171.2):c.593A>G (p.H198R), ACOT9(NM_001330259.1):c.386A>G (p.H129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23713204T>C" "" "likely benign" "" "0000261785" "0" "50" "X" "23724823" "23724823" "del" "5.73608E-6" "01943" "ACOT9_000025" "g.23724823del" "" "" "" "ACOT9(NM_001330259.1):c.557delC (p.T186Sfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23706706del" "" "VUS" "" "0000261786" "0" "50" "X" "23723893" "23723893" "subst" "2.23989E-5" "01943" "ACOT9_000023" "g.23723893G>C" "" "" "" "ACOT9(NM_001037171.1):c.925C>G (p.H309D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23705776G>C" "" "VUS" "" "0000333436" "0" "50" "X" "23723956" "23723956" "subst" "1.11948E-5" "01804" "ACOT9_000024" "g.23723956G>A" "" "" "" "ACOT9(NM_001033583.2):c.835C>T (p.(Arg279Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23705839G>A" "" "VUS" "" "0000333437" "0" "50" "X" "23740077" "23740077" "subst" "0" "01804" "ACOT9_000027" "g.23740077G>C" "" "" "" "ACOT9(NM_001033583.2):c.482C>G (p.(Pro161Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23721960G>C" "" "VUS" "" "0000333439" "0" "50" "X" "23754116" "23754116" "subst" "0.00119573" "01804" "ACOT9_000031" "g.23754116T>C" "" "" "" "ACOT9(NM_001033583.2):c.38A>G (p.(Lys13Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23735999T>C" "" "VUS" "" "0000393097" "1" "50" "X" "23723153" "23723153" "subst" "0" "00124" "ACOT9_000032" "g.23723153T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.23705036T>C" "" "VUS" "" "0000393098" "1" "50" "X" "23722846" "23722846" "subst" "1.68111E-5" "00124" "ACOT9_000002" "g.23722846T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.23704729T>C" "" "VUS" "" "0000393099" "1" "50" "X" "23722835" "23722835" "subst" "0.139521" "00124" "ACOT9_000003" "g.23722835A>G" "36/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L403L" "recurrent, found 36 times" "Germline" "" "" "0" "" "" "g.23704718A>G" "" "VUS" "" "0000393100" "1" "50" "X" "23731321" "23731321" "subst" "0.00298408" "00124" "ACOT9_000026" "g.23731321T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.23713204T>C" "" "VUS" "" "0000393101" "1" "50" "X" "23723711" "23723711" "subst" "0.0215814" "00124" "ACOT9_000005" "g.23723711C>G" "5/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 5 times" "Germline" "" "" "0" "" "" "g.23705594C>G" "" "VUS" "" "0000575324" "0" "50" "X" "23723695" "23723695" "subst" "5.63841E-6" "01943" "ACOT9_000033" "g.23723695T>C" "" "" "" "ACOT9(NM_001330259.1):c.743A>G (p.N248S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23705578T>C" "" "VUS" "" "0000575325" "0" "30" "X" "23731321" "23731321" "subst" "0.00298408" "01943" "ACOT9_000026" "g.23731321T>C" "" "" "" "ACOT9(NM_001033583.2):c.566A>G (p.(His189Arg)), ACOT9(NM_001037171.2):c.593A>G (p.H198R), ACOT9(NM_001330259.1):c.386A>G (p.H129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23713204T>C" "" "likely benign" "" "0000575326" "0" "30" "X" "23731321" "23731321" "subst" "0.00298408" "01804" "ACOT9_000026" "g.23731321T>C" "" "" "" "ACOT9(NM_001033583.2):c.566A>G (p.(His189Arg)), ACOT9(NM_001037171.2):c.593A>G (p.H198R), ACOT9(NM_001330259.1):c.386A>G (p.H129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23713204T>C" "" "likely benign" "" "0000624564" "0" "50" "X" "23748966" "23748966" "subst" "4.02091E-5" "01943" "ACOT9_000035" "g.23748966C>T" "" "" "" "ACOT9(NM_001330259.1):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23730849C>T" "" "VUS" "" "0000682349" "0" "30" "X" "23740112" "23740113" "del" "0" "01943" "ACOT9_000036" "g.23740112_23740113del" "" "" "" "ACOT9(NM_001330259.1):c.278-11_278-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682350" "0" "30" "X" "23748972" "23748972" "subst" "0.000707791" "01943" "ACOT9_000037" "g.23748972T>C" "" "" "" "ACOT9(NM_001330259.1):c.116A>G (p.E39G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728781" "0" "30" "X" "23723962" "23723962" "subst" "0.000106394" "01943" "ACOT9_000038" "g.23723962G>A" "" "" "" "ACOT9(NM_001330259.1):c.649C>T (p.R217W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810241" "0" "30" "X" "23722902" "23722902" "subst" "0.000722264" "01943" "ACOT9_000039" "g.23722902C>A" "" "" "" "ACOT9(NM_001330259.1):c.960G>T (p.L320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810242" "0" "30" "X" "23724828" "23724828" "subst" "0.000599493" "01943" "ACOT9_000040" "g.23724828G>A" "" "" "" "ACOT9(NM_001330259.1):c.552C>T (p.S184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810243" "0" "30" "X" "23752471" "23752471" "subst" "3.62891E-5" "01943" "ACOT9_000041" "g.23752471T>C" "" "" "" "ACOT9(NM_001037171.1):c.132A>G (p.I44M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810244" "0" "30" "X" "23754078" "23754078" "subst" "1.12898E-5" "01943" "ACOT9_000042" "g.23754078G>A" "" "" "" "ACOT9(NM_001037171.1):c.76C>T (p.P26S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984611" "0" "50" "X" "23731271" "23731271" "subst" "1.13536E-5" "01804" "ACOT9_000043" "g.23731271G>A" "" "" "" "ACOT9(NM_001037171.2):c.643C>T (p.(Arg215Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006658" "0" "30" "X" "23752461" "23752461" "subst" "0" "01804" "ACOT9_000044" "g.23752461G>C" "" "" "" "ACOT9(NM_001037171.1):c.142C>G (p.(His48Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ACOT9 ## Count = 88 "{{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}}" "0000001830" "00025976" "50" "842" "48" "842" "49" "c.842+48_842+49dup" "r.(=)" "p.(=)" "" "0000001830" "00000496" "50" "815" "68" "815" "69" "c.815+68_815+69dup" "r.(=)" "p.(=)" "" "0000001831" "00025976" "50" "842" "48" "842" "48" "c.842+48dup" "r.(=)" "p.(=)" "" "0000001831" "00000496" "50" "815" "69" "815" "69" "c.815+69dup" "r.(=)" "p.(=)" "" "0000006487" "00025976" "50" "1020" "-64" "1020" "-64" "c.1020-64A>G" "r.(=)" "p.(=)" "" "0000006487" "00000496" "50" "993" "-64" "993" "-64" "c.993-64A>G" "r.(=)" "p.(=)" "" "0000006488" "00025976" "50" "588" "141" "588" "141" "c.588+141T>C" "r.(=)" "p.(=)" "" "0000006488" "00000496" "50" "561" "141" "561" "141" "c.561+141T>C" "r.(=)" "p.(=)" "" "0000006489" "00025976" "50" "484" "250" "484" "250" "c.484+250G>A" "r.(=)" "p.(=)" "" "0000006489" "00000496" "50" "457" "250" "457" "250" "c.457+250G>A" "r.(=)" "p.(=)" "" "0000006490" "00025976" "50" "484" "143" "484" "143" "c.484+143T>C" "r.(=)" "p.(=)" "" "0000006490" "00000496" "50" "457" "143" "457" "143" "c.457+143T>C" "r.(=)" "p.(=)" "" "0000006491" "00025976" "50" "21" "-374" "21" "-374" "c.21-374C>T" "r.(=)" "p.(=)" "" "0000006491" "00000496" "50" "21" "-374" "21" "-374" "c.21-374C>T" "r.(=)" "p.(=)" "" "0000006492" "00025976" "50" "20" "120" "20" "120" "c.20+120T>G" "r.(=)" "p.(=)" "" "0000006492" "00000496" "50" "20" "120" "20" "120" "c.20+120T>G" "r.(=)" "p.(=)" "" "0000008539" "00025976" "50" "1020" "-64" "1020" "-64" "c.1020-64A>G" "r.(=)" "p.(=)" "" "0000008539" "00000496" "50" "993" "-64" "993" "-64" "c.993-64A>G" "r.(=)" "p.(=)" "" "0000008540" "00025976" "50" "842" "48" "842" "50" "c.842+48_842+50dup" "r.(=)" "p.(=)" "" "0000008540" "00000496" "50" "815" "67" "815" "69" "c.815+67_815+69dup" "r.(=)" "p.(=)" "" "0000008541" "00025976" "50" "842" "48" "842" "48" "c.842+48dup" "r.(=)" "p.(=)" "" "0000008541" "00000496" "50" "815" "69" "815" "69" "c.815+69dup" "r.(=)" "p.(=)" "" "0000008542" "00025976" "50" "588" "141" "588" "141" "c.588+141T>C" "r.(=)" "p.(=)" "" "0000008542" "00000496" "50" "561" "141" "561" "141" "c.561+141T>C" "r.(=)" "p.(=)" "" "0000008543" "00025976" "50" "484" "143" "484" "143" "c.484+143T>C" "r.(=)" "p.(=)" "" "0000008543" "00000496" "50" "457" "143" "457" "143" "c.457+143T>C" "r.(=)" "p.(=)" "" "0000008544" "00025976" "50" "484" "92" "484" "92" "c.484+92dup" "r.(=)" "p.(=)" "" "0000008544" "00000496" "50" "457" "105" "457" "105" "c.457+105dup" "r.(=)" "p.(=)" "" "0000008545" "00025976" "50" "400" "255" "400" "255" "c.400+255A>G" "r.(=)" "p.(=)" "" "0000008545" "00000496" "50" "373" "255" "373" "255" "c.373+255A>G" "r.(=)" "p.(=)" "" "0000014450" "00025976" "50" "588" "237" "588" "237" "c.588+237T>C" "r.(=)" "p.(=)" "" "0000014450" "00000496" "50" "561" "237" "561" "237" "c.561+237T>C" "r.(=)" "p.(=)" "" "0000014452" "00025976" "50" "484" "250" "484" "250" "c.484+250G>A" "r.(=)" "p.(=)" "" "0000014452" "00000496" "50" "457" "250" "457" "250" "c.457+250G>A" "r.(=)" "p.(=)" "" "0000014455" "00025976" "50" "21" "-374" "21" "-374" "c.21-374C>T" "r.(=)" "p.(=)" "" "0000014455" "00000496" "50" "21" "-374" "21" "-374" "c.21-374C>T" "r.(=)" "p.(=)" "" "0000256300" "00025976" "50" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Met163Thr)" "" "0000256300" "00000496" "50" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Met154Thr)" "" "0000260491" "00025976" "30" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Gln15Ter)" "" "0000260491" "00000496" "30" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Gln15Ter)" "" "0000260492" "00025976" "30" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(His198Arg)" "" "0000260492" "00000496" "30" "566" "0" "566" "0" "c.566A>G" "r.(?)" "p.(His189Arg)" "" "0000261785" "00025976" "50" "764" "0" "764" "0" "c.764del" "r.(?)" "p.(Thr255SerfsTer4)" "" "0000261785" "00000496" "50" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Thr246SerfsTer4)" "" "0000261786" "00025976" "50" "925" "0" "925" "0" "c.925C>G" "r.(?)" "p.(His309Asp)" "" "0000261786" "00000496" "50" "898" "0" "898" "0" "c.898C>G" "r.(?)" "p.(His300Asp)" "" "0000333436" "00025976" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Ter)" "" "0000333436" "00000496" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000333437" "00025976" "50" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Pro170Arg)" "" "0000333437" "00000496" "50" "482" "0" "482" "0" "c.482C>G" "r.(?)" "p.(Pro161Arg)" "" "0000333439" "00025976" "50" "38" "0" "38" "0" "c.38A>G" "r.(?)" "p.(Lys13Arg)" "" "0000333439" "00000496" "50" "38" "0" "38" "0" "c.38A>G" "r.(?)" "p.(Lys13Arg)" "" "0000393097" "00025976" "50" "1064" "0" "1064" "0" "c.1064A>G" "r.(?)" "p.(Gln355Arg)" "" "0000393097" "00000496" "50" "1037" "0" "1037" "0" "c.1037A>G" "r.(?)" "p.(Gln346Arg)" "" "0000393098" "00025976" "50" "1223" "0" "1223" "0" "c.1223A>G" "r.(?)" "p.(Lys408Arg)" "" "0000393098" "00000496" "50" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Lys399Arg)" "" "0000393099" "00025976" "50" "1234" "0" "1234" "0" "c.1234T>C" "r.(=)" "p.(=)" "" "0000393099" "00000496" "50" "1207" "0" "1207" "0" "c.1207T>C" "r.(=)" "p.(=)" "" "0000393100" "00025976" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(His198Arg)" "" "0000393100" "00000496" "50" "566" "0" "566" "0" "c.566A>G" "r.(?)" "p.(His189Arg)" "" "0000393101" "00025976" "50" "934" "0" "934" "0" "c.934G>C" "r.(?)" "p.(Glu312Gln)" "" "0000393101" "00000496" "50" "907" "0" "907" "0" "c.907G>C" "r.(?)" "p.(Glu303Gln)" "" "0000575324" "00025976" "50" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.(Asn317Ser)" "" "0000575324" "00000496" "50" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asn308Ser)" "" "0000575325" "00025976" "30" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(His198Arg)" "" "0000575325" "00000496" "30" "566" "0" "566" "0" "c.566A>G" "r.(?)" "p.(His189Arg)" "" "0000575326" "00025976" "30" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(His198Arg)" "" "0000575326" "00000496" "30" "566" "0" "566" "0" "c.566A>G" "r.(?)" "p.(His189Arg)" "" "0000624564" "00025976" "50" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110Gln)" "" "0000624564" "00000496" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101Gln)" "" "0000682349" "00025976" "30" "485" "-11" "485" "-10" "c.485-11_485-10del" "r.(=)" "p.(=)" "" "0000682349" "00000496" "30" "458" "-11" "458" "-10" "c.458-11_458-10del" "r.(=)" "p.(=)" "" "0000682350" "00025976" "30" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Glu108Gly)" "" "0000682350" "00000496" "30" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Glu99Gly)" "" "0000728781" "00025976" "30" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Trp)" "" "0000728781" "00000496" "30" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Trp)" "" "0000810241" "00025976" "30" "1167" "0" "1167" "0" "c.1167G>T" "r.(?)" "p.(Leu389=)" "" "0000810241" "00000496" "30" "1140" "0" "1140" "0" "c.1140G>T" "r.(?)" "p.(Leu380=)" "" "0000810242" "00025976" "30" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Ser253=)" "" "0000810242" "00000496" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(Ser244=)" "" "0000810243" "00025976" "30" "132" "0" "132" "0" "c.132A>G" "r.(?)" "p.(Ile44Met)" "" "0000810243" "00000496" "30" "119" "-1137" "119" "-1137" "c.119-1137A>G" "r.(=)" "p.(=)" "" "0000810244" "00025976" "30" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Pro26Ser)" "" "0000810244" "00000496" "30" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Pro26Ser)" "" "0000984611" "00025976" "50" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Cys)" "" "0000984611" "00000496" "50" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Cys)" "" "0001006658" "00025976" "30" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(His48Asp)" "" "0001006658" "00000496" "30" "119" "-1127" "119" "-1127" "c.119-1127C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001830" "0000000209" "0000001831" "0000000209" "0000006487" "0000000209" "0000006488" "0000000209" "0000006489" "0000000209" "0000006490" "0000000209" "0000006491" "0000000209" "0000006492" "0000000210" "0000008539" "0000000210" "0000008540" "0000000210" "0000008541" "0000000210" "0000008542" "0000000210" "0000008543" "0000000210" "0000008544" "0000000210" "0000008545" "0000000210" "0000014450" "0000000210" "0000014452" "0000000210" "0000014455" "0000173240" "0000393097" "0000173241" "0000393098" "0000173242" "0000393099" "0000173243" "0000393100" "0000173244" "0000393101"