### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CPT1A) # 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}}" "CPT1A" "carnitine palmitoyltransferase 1A (liver)" "11" "q13.2" "unknown" "NG_011801.1" "UD_132118233293" "" "https://www.LOVD.nl/CPT1A" "" "1" "2328" "1374" "600528" "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/CPT1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2018-10-12 10:15:18" "00006" "2025-05-15 16:57:11" ## 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}}" "00000087" "CPT1A" "carnitine palmitoyltransferase 1A (liver), transcript variant 2" "002" "NM_001876.3" "" "NP_001027017.1" "" "" "" "-170" "5083" "2322" "68609399" "68522351" "00002" "2012-05-11 13:12:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01934" "MPS3B" "mucopolysaccharidosis, type IIIB (MPS-3B)" "AR" "252920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01956" "CPTD1A" "carnitine palmitoyltransferase deficiency, type IA" "AR" "255120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-14 14:49:30" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "03814" "SPG54" "paraplegia, spastic, type 54, autosomal recessive (SPG-54)" "AR" "615033" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05207" "OCA1" "albinism, oculocutaneous, type I (OCA-1)" "" "" "" "" "" "00006" "2016-12-02 17:47:10" "00006" "2021-12-11 13:56:28" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CPT1A" "01956" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00000010" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000024" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000026" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000048" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000082" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000083" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000084" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00024265" "" "" "" "61" "" "00705" "{DOI:Clemente (2014):10.1016/j.ajhg.2014.09.016}" "25 Northeast Siberian (Chukchi, Eskimo,\r\nand Koryaks) genomes with a control panel of 25 European and 11 East Asian genomes, publicly available.\r\nComplete Genomics genomes" "?" "?" "" "" "0" "" "" "Northeast Siberian" "" "00181015" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00276321" "" "" "" "2" "" "03568" "" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00290517" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290518" "" "" "" "105" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290519" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301693" "" "" "" "1" "" "03681" "" "" "M" "?" "" "" "0" "" "" "" "" "00304317" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00397805" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U37" "00397806" "" "" "" "1" "" "00006" "{PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U17" "00397807" "" "" "" "1" "" "00006" "{PMID:Zhang 2014:24801232}, {PMID:Fan 2018:29419890}" "" "" "" "China" "" "0" "" "" "" "U3" "00414706" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA03575" "00453615" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat31" "00457569" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat12" "00457579" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat8" "00465392" "" "" "" "1" "" "00006" "{PMID:Chuan 2021:32552135}" "analysis 63 cases oculocutaneous albinism" "" "" "China" "" "0" "" "" "" "Pat63" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00000024" "05378" "00024265" "00000" "00181015" "01956" "00276321" "01934" "00276321" "03814" "00290517" "00198" "00290518" "00198" "00290519" "00198" "00301693" "01956" "00304317" "00198" "00397805" "05121" "00397806" "05121" "00397807" "05121" "00414706" "04214" "00453615" "02554" "00457569" "00198" "00457579" "00198" "00465392" "05207" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01934, 01956, 02554, 03814, 04214, 05121, 05207, 05378 ## Count = 12 "{{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}}" "0000143399" "01956" "00181015" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210911" "01934" "00276321" "03568" "Familial, autosomal recessive" "02y" "HP:0001250 \r\nHP:0006834 \r\nHP:0031358\r\nHP:0002240\r\nHP:0001263 \r\nHP:0001249 \r\nHP:0000007 \r\nHP:0003676" "00y06m" "" "" "" "" "" "" "" "MPS-3B" "MPS-3B" "" "0000210912" "03814" "00276321" "03568" "Familial, autosomal recessive" "02y" "HP:0001347\r\nHP:0001263\r\nHP:0001258\r\nHP:0001249\r\nHP:0000007\r\nHP:0007340\r\nHP:0003676" "" "" "" "" "" "" "" "" "" "" "" "0000228792" "01956" "00301693" "03681" "Familial, autosomal recessive" "" "Cirrhosis" "" "" "" "" "" "" "" "" "" "" "" "0000290932" "05121" "00397805" "00006" "Familial, autosomal recessive" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290933" "05121" "00397806" "00006" "Familial, autosomal recessive" "" "moderate-progressive Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000290934" "05121" "00397807" "00006" "Familial, autosomal recessive" "" "mild Ullrich congenital muscular dystrophy" "" "" "" "" "" "" "" "" "UCMD1" "Ullrich congenital muscular dystrophy" "" "0000306501" "04214" "00414706" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Tay-Sachs disease" "" "" "0000342272" "02554" "00453615" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "5y" "" "" "" "" "" "" "" "CPTD1A" "inborn error of metabolism" "" "0000346033" "00198" "00457569" "00006" "Familial, autosomal recessive" "5m" "newborn screening; normal development" "" "41d" "" "" "" "" "" "" "CPTD1A" "newborn screening" "" "0000346043" "00198" "00457579" "00006" "Familial, autosomal recessive" "6.8y" "recurrent hepatic failure, nephromegaly, hemolytic anemia, rhabomyolysis, developmental delay" "" "33m" "" "" "" "" "" "" "CPTD1A" "fatty acid oxidation disorder" "" "0000350944" "05207" "00465392" "00006" "Unknown" "9y" "see paper; ..., skin color white; hair color white; iris color light blue; no nystagmus" "" "" "" "" "" "" "" "" "" "oculocutaneous albinism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000010" "00000010" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000024" "00000024" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000026" "00000026" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000048" "00000048" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000067" "00000067" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000082" "00000082" "1" "00004" "" "2012-05-11 13:19:08" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000083" "00000083" "1" "00004" "" "2012-05-11 13:19:08" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000084" "00000084" "1" "00004" "" "2012-05-11 13:19:09" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000024257" "00024265" "1" "00705" "00705" "2014-11-13 14:19:16" "" "" "arraySNP" "DNA" "" "" "0000181963" "00181015" "1" "02568" "02568" "2018-09-20 17:57:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000277468" "00276321" "1" "03568" "03568" "2020-01-30 14:18:48" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000291685" "00290517" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291686" "00290518" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291687" "00290519" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302816" "00301693" "1" "03681" "03681" "2020-05-22 09:04:09" "00006" "2020-05-23 14:16:56" "SEQ-NG" "DNA" "" "" "0000305446" "00304317" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000399047" "00397805" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399048" "00397806" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000399049" "00397807" "1" "00006" "00006" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "COL6A1, COL6A2, COL6A3" "0000415987" "00414706" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000455227" "00453615" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000459189" "00457569" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "plasma" "0000459199" "00457579" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "plasma" "0000467041" "00465392" "1" "00006" "00006" "2025-05-15 16:56:51" "" "" "SEQ;MLPA" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 109 "{{screeningid}}" "{{geneid}}" "0000000010" "ACADM" "0000000010" "ATP7B" "0000000010" "BTD" "0000000010" "CLN3" "0000000010" "CPT1A" "0000000010" "DGUOK" "0000000010" "ERCC6" "0000000010" "ETFB" "0000000010" "NHLRC1" "0000000010" "PAH" "0000000024" "AGA" "0000000024" "AMPD1" "0000000024" "ATP7B" "0000000024" "CBS" "0000000024" "CPT1A" "0000000024" "CYP21A2" "0000000024" "DPYD" "0000000024" "ETFB" "0000000024" "MEFV" "0000000024" "NPHP4" "0000000024" "NPHS1" "0000000024" "SERPINA1" "0000000026" "AMPD1" "0000000026" "ATP7B" "0000000026" "CBS" "0000000026" "CPT1A" "0000000026" "ETFB" "0000000026" "GLB1" "0000000026" "GRHPR" "0000000026" "HEXB" "0000000026" "INVS" "0000000026" "MECP2" "0000000026" "MEFV" "0000000026" "NHLRC1" "0000000026" "NPHS1" "0000000026" "NTRK1" "0000000026" "SERPINA1" "0000000026" "SLC26A2" "0000000048" "ATP7B" "0000000048" "CPT1A" "0000000048" "DPYD" "0000000048" "ETFB" "0000000048" "GAA" "0000000048" "GBA" "0000000048" "GLB1" "0000000048" "IGHMBP2" "0000000048" "LAMA2" "0000000048" "MEFV" "0000000048" "NHLRC1" "0000000048" "NPHS1" "0000000048" "SERPINA1" "0000000067" "ASPA" "0000000067" "ATP7B" "0000000067" "CDH23" "0000000067" "CPT1A" "0000000067" "CYP21A2" "0000000067" "ETFB" "0000000067" "GALC" "0000000067" "GLB1" "0000000067" "MEFV" "0000000067" "MTHFR" "0000000067" "MVK" "0000000067" "NHLRC1" "0000000067" "NPHS1" "0000000067" "SERPINA1" "0000000067" "SLC26A2" "0000000067" "SMPD1" "0000000067" "WNT10A" "0000000082" "ATP7B" "0000000082" "CPT1A" "0000000082" "CYP21A2" "0000000082" "ETFB" "0000000082" "FAH" "0000000082" "GLB1" "0000000082" "MCOLN1" "0000000082" "MYO5A" "0000000082" "NHLRC1" "0000000082" "NPC2" "0000000083" "ASPA" "0000000083" "ATP7B" "0000000083" "CPT1A" "0000000083" "CYP27A1" "0000000083" "ETFB" "0000000083" "GAA" "0000000083" "NPHS1" "0000000083" "SERPINA1" "0000000084" "ADA" "0000000084" "CPT1A" "0000000084" "FKRP" "0000000084" "GAA" "0000000084" "GLB1" "0000000084" "MYO5A" "0000000084" "NHLRC1" "0000000084" "NPHS1" "0000000084" "RAG1" "0000000084" "SERPINA1" "0000000084" "SMPD1" "0000024257" "CPT1A" "0000181963" "CPT1A" "0000302816" "CPT1A" "0000399047" "COL6A2" "0000399048" "COL6A2" "0000399049" "COL6A2" "0000415987" "HEXA" "0000459189" "CPT1A" "0000459199" "CPT1A" "0000467041" "OCA2" "0000467041" "SLC45A2" "0000467041" "TYR" ## 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 = 50 "{{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}}" "0000000163" "0" "50" "11" "68562328" "68562328" "subst" "0.0632659" "00002" "CPT1A_000001" "g.68562328C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68794860C>T" "" "VUS" "" "0000000164" "0" "50" "11" "68562328" "68562328" "subst" "0.0632659" "00002" "CPT1A_000001" "g.68562328C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68794860C>T" "" "VUS" "" "0000000165" "0" "50" "11" "68562328" "68562328" "subst" "0.0632659" "00002" "CPT1A_000001" "g.68562328C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68794860C>T" "" "VUS" "" "0000000166" "0" "50" "11" "68562328" "68562328" "subst" "0.0632659" "00002" "CPT1A_000001" "g.68562328C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68794860C>T" "" "VUS" "" "0000000167" "0" "50" "11" "68562328" "68562328" "subst" "0.0632659" "00002" "CPT1A_000001" "g.68562328C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68794860C>T" "" "VUS" "" "0000000168" "0" "50" "11" "68562328" "68562328" "subst" "0.0632659" "00002" "CPT1A_000001" "g.68562328C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68794860C>T" "" "VUS" "" "0000000169" "0" "50" "11" "68562328" "68562328" "subst" "0.0632659" "00002" "CPT1A_000001" "g.68562328C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68794860C>T" "" "VUS" "" "0000000170" "0" "50" "11" "68562328" "68562328" "subst" "0.0632659" "00002" "CPT1A_000001" "g.68562328C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68794860C>T" "" "VUS" "" "0000000171" "0" "50" "11" "68562328" "68562328" "subst" "0.0632659" "00002" "CPT1A_000001" "g.68562328C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68794860C>T" "" "VUS" "" "0000046850" "3" "90" "11" "68548130" "68548130" "subst" "0" "00705" "CPT1A_000002" "g.68548130C>T" "" "{DOI:Clemente 2014:10.1016/j.ajhg.2014.09.016}" "" "1436C>T" "c.1436C>T; on reverse strand\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "yes" "rs80356779" "0" "" "" "g.68780662C>T" "" "pathogenic" "" "0000248649" "0" "10" "11" "68549340" "68549340" "subst" "0.933386" "02325" "CPT1A_000005" "g.68549340A>G" "" "" "" "CPT1A(NM_001876.4):c.1251T>C (p.F417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68781872A>G" "" "benign" "" "0000249555" "0" "30" "11" "68530090" "68530090" "subst" "2.0352E-5" "02325" "CPT1A_000004" "g.68530090A>G" "" "" "" "CPT1A(NM_001876.4):c.1875+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68762622A>G" "" "likely benign" "" "0000267113" "0" "30" "11" "68527074" "68527074" "subst" "0.0018557" "02325" "CPT1A_000003" "g.68527074T>C" "" "" "" "CPT1A(NM_001876.4):c.2198A>G (p.N733S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68759606T>C" "" "likely benign" "" "0000267114" "0" "10" "11" "68566839" "68566839" "subst" "0.940448" "02325" "CPT1A_000008" "g.68566839G>A" "" "" "" "CPT1A(NM_001876.4):c.556-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68799371G>A" "" "benign" "" "0000267115" "0" "10" "11" "68562328" "68562328" "subst" "0.0632659" "02325" "CPT1A_000001" "g.68562328C>T" "" "" "" "CPT1A(NM_001876.4):c.823G>A (p.A275T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68794860C>T" "" "benign" "" "0000270570" "0" "30" "11" "68566839" "68566839" "del" "0" "02326" "CPT1A_000007" "g.68566839del" "" "" "" "CPT1A(NM_001876.4):c.556-12delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68799371del" "" "likely benign" "" "0000270571" "0" "10" "11" "68562328" "68562328" "subst" "0.0632659" "02326" "CPT1A_000001" "g.68562328C>T" "" "" "" "CPT1A(NM_001876.4):c.823G>A (p.A275T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68794860C>T" "" "benign" "" "0000270572" "0" "10" "11" "68560780" "68560780" "subst" "0.032445" "02326" "CPT1A_000006" "g.68560780C>T" "" "" "" "CPT1A(NM_001876.4):c.967+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68793312C>T" "" "benign" "" "0000405751" "3" "90" "11" "68552431" "68552431" "subst" "4.06405E-6" "02568" "CPT1A_000009" "g.68552431G>A" "" "" "" "Arg339Ter" "" "Germline" "" "" "0" "" "" "g.68784963G>A" "" "pathogenic" "" "0000613657" "0" "30" "11" "68525174" "68525174" "subst" "0.000430215" "02327" "CPT1A_000010" "g.68525174G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68757706G>A" "" "likely benign" "" "0000613658" "0" "30" "11" "68527685" "68527685" "subst" "0.000808475" "02327" "CPT1A_000011" "g.68527685G>A" "" "" "" "CPT1A(NM_001876.4):c.2142+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68760217G>A" "" "likely benign" "" "0000613659" "0" "30" "11" "68529072" "68529072" "subst" "2.84239E-5" "02327" "CPT1A_000012" "g.68529072G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68761604G>A" "" "likely benign" "" "0000613660" "0" "50" "11" "68540743" "68540743" "subst" "0" "02327" "CPT1A_000013" "g.68540743G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68773275G>A" "" "VUS" "" "0000613661" "0" "50" "11" "68552334" "68552334" "subst" "7.73389E-5" "02327" "CPT1A_000015" "g.68552334G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68784866G>A" "" "VUS" "" "0000613662" "0" "30" "11" "68560866" "68560866" "subst" "2.08706E-5" "02327" "CPT1A_000016" "g.68560866C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68793398C>T" "" "likely benign" "" "0000613663" "0" "10" "11" "68566839" "68566839" "subst" "0.940448" "02327" "CPT1A_000008" "g.68566839G>A" "" "" "" "CPT1A(NM_001876.4):c.556-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68799371G>A" "" "benign" "" "0000613664" "0" "30" "11" "68575001" "68575001" "subst" "1.2187E-5" "02327" "CPT1A_000017" "g.68575001C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68807533C>T" "" "likely benign" "" "0000613665" "0" "30" "11" "68580041" "68580041" "subst" "0.000171602" "02327" "CPT1A_000018" "g.68580041C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68812573C>T" "" "likely benign" "" "0000622711" "0" "30" "11" "68542863" "68542863" "subst" "7.71523E-5" "01943" "CPT1A_000014" "g.68542863G>A" "" "" "" "CPT1A(NM_001876.4):c.1496C>T (p.A499V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68775395G>A" "" "likely benign" "" "0000632328" "3" "50" "11" "68529098" "68529098" "subst" "2.84243E-5" "03568" "CPT1A_000019" "g.68529098G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68761630G>A" "" "VUS" "" "0000648374" "1" "10" "11" "68562288" "68562288" "subst" "0.00533971" "03575" "CPT1A_000020" "g.68562288C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs140958507}" "Germline" "" "rs140958507" "0" "" "" "g.68794820C>T" "" "benign" "" "0000648375" "1" "10" "11" "68562328" "68562328" "subst" "0.0632659" "03575" "CPT1A_000001" "g.68562328C>T" "105/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "105 heterozygous; {DB:CLININrs2229738}" "Germline" "" "rs2229738" "0" "" "" "g.68794860C>T" "" "benign" "" "0000648376" "1" "70" "11" "68579964" "68579964" "subst" "0" "03575" "CPT1A_000021" "g.68579964G>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs398123654}" "Germline" "" "rs398123654" "0" "" "" "g.68812496G>T" "" "likely pathogenic" "" "0000656895" "0" "30" "11" "68542776" "68542776" "subst" "0.00104852" "01943" "CPT1A_000022" "g.68542776G>A" "" "" "" "CPT1A(NM_001876.4):c.1575+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68775308G>A" "" "likely benign" "" "0000656896" "0" "30" "11" "68549447" "68549447" "subst" "1.21946E-5" "02327" "CPT1A_000023" "g.68549447C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68781979C>T" "" "likely benign" "" "0000666174" "3" "70" "11" "68548172" "68548172" "subst" "0" "03681" "CPT1A_000024" "g.68548172C>T" "" "" "" "" "" "Germline" "" "rs761944958" "0" "" "" "g.68780704C>T" "373240" "likely pathogenic (recessive)" "" "0000669134" "3" "10" "11" "68562328" "68562328" "subst" "0.0632659" "03575" "CPT1A_000001" "g.68562328C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs2229738}" "Germline" "" "rs2229738" "0" "" "" "g.68794860C>T" "" "benign" "" "0000723677" "0" "30" "11" "68527685" "68527685" "subst" "0.000808475" "01943" "CPT1A_000011" "g.68527685G>A" "" "" "" "CPT1A(NM_001876.4):c.2142+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723678" "0" "10" "11" "68560787" "68560787" "subst" "0.0927333" "02327" "CPT1A_000025" "g.68560787C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805369" "0" "90" "11" "68552334" "68552337" "del" "0" "01943" "CPT1A_000026" "g.68552334_68552337del" "" "" "" "CPT1A(NM_001876.4):c.1109_1112delCCTC (p.T370Rfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000873927" "0" "10" "11" "68562328" "68562328" "subst" "0.0632659" "00000" "CPT1A_000001" "g.68562328C>T" "" "{PMID:Bell 2011:21228398}" "" "CPT1A 11:68318904 (hg18) het CM033597 8.7%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.68794860C>T" "" "benign" "" "0000979831" "0" "30" "11" "68542776" "68542776" "subst" "0.00104852" "01804" "CPT1A_000022" "g.68542776G>A" "" "" "" "CPT1A(NM_001876.4):c.1575+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979832" "0" "30" "11" "68571505" "68571505" "subst" "0.00190158" "01804" "CPT1A_000027" "g.68571505C>T" "" "" "" "CPT1A(NM_001876.4):c.518G>A (p.(Arg173His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999422" "0" "30" "11" "68548217" "68548217" "subst" "7.30923E-5" "02325" "CPT1A_000028" "g.68548217C>T" "" "" "" "CPT1A(NM_001876.4):c.1353-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007260" "3" "90" "11" "68552431" "68552431" "subst" "4.06405E-6" "00006" "CPT1A_000009" "g.68552431G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.68784963G>A" "" "pathogenic" "" "0001017111" "1" "90" "11" "68564347" "68564347" "subst" "1.62697E-5" "00006" "CPT1A_000031" "g.68564347C>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.68796879C>A" "" "pathogenic (recessive)" "" "0001017121" "1" "90" "11" "68562313" "68562314" "ins" "0" "00006" "CPT1A_000030" "g.68562313_68562314insA" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.68794845_68794846insA" "" "pathogenic (recessive)" "" "0001017130" "2" "90" "11" "68552431" "68552431" "subst" "4.06405E-6" "00006" "CPT1A_000009" "g.68552431G>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.68784963G>A" "" "pathogenic (recessive)" "" "0001017138" "2" "90" "11" "68560803" "68560803" "subst" "0" "00006" "CPT1A_000029" "g.68560803C>T" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.68793335C>T" "" "pathogenic (recessive)" "" "0001038706" "0" "30" "11" "68517932" "68517932" "subst" "0.000549974" "01804" "CPT1A_000032" "g.68517932G>C" "" "" "" "TESMIN(NM_004923.3):c.197C>G (p.(Ala66Gly))" "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 CPT1A ## Count = 50 "{{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}}" "0000000163" "00000087" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000000164" "00000087" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000000165" "00000087" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000000166" "00000087" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000000167" "00000087" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000000168" "00000087" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000000169" "00000087" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000000170" "00000087" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000000171" "00000087" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000046850" "00000087" "70" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479Gln)" "12" "0000248649" "00000087" "10" "1251" "0" "1251" "0" "c.1251=" "r.(=)" "p.(Phe417=)" "" "0000249555" "00000087" "30" "1875" "5" "1875" "5" "c.1875+5T>C" "r.spl?" "p.?" "" "0000267113" "00000087" "30" "2198" "0" "2198" "0" "c.2198A>G" "r.(?)" "p.(Asn733Ser)" "" "0000267114" "00000087" "10" "556" "-16" "556" "-16" "c.556-16C>T" "r.(=)" "p.(=)" "" "0000267115" "00000087" "10" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000270570" "00000087" "30" "556" "-12" "556" "-12" "c.556-12del" "r.(=)" "p.(=)" "" "0000270571" "00000087" "10" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000270572" "00000087" "10" "967" "3" "967" "3" "c.967+3G>A" "r.spl?" "p.?" "" "0000405751" "00000087" "90" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339*)" "" "0000613657" "00000087" "30" "2260" "0" "2260" "0" "c.2260C>T" "r.(?)" "p.(Leu754=)" "" "0000613658" "00000087" "30" "2142" "8" "2142" "8" "c.2142+8C>T" "r.(=)" "p.(=)" "" "0000613659" "00000087" "30" "1959" "0" "1959" "0" "c.1959C>T" "r.(?)" "p.(Ile653=)" "" "0000613660" "00000087" "50" "1730" "0" "1730" "0" "c.1730C>T" "r.(?)" "p.(Ala577Val)" "" "0000613661" "00000087" "50" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Ser371Leu)" "" "0000613662" "00000087" "30" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Arg295His)" "" "0000613663" "00000087" "10" "556" "-16" "556" "-16" "c.556-16C>T" "r.(=)" "p.(=)" "" "0000613664" "00000087" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Leu129=)" "" "0000613665" "00000087" "30" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Gly49Ser)" "" "0000622711" "00000087" "30" "1496" "0" "1496" "0" "c.1496C>T" "r.(?)" "p.(Ala499Val)" "" "0000632328" "00000087" "50" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Arg645Cys)" "16" "0000648374" "00000087" "10" "863" "0" "863" "0" "c.863G>A" "r.(?)" "p.(Arg288Gln)" "" "0000648375" "00000087" "10" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000648376" "00000087" "70" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Tyr74*)" "" "0000656895" "00000087" "30" "1575" "8" "1575" "8" "c.1575+8C>T" "r.(=)" "p.(=)" "" "0000656896" "00000087" "30" "1164" "-20" "1164" "-20" "c.1164-20G>A" "r.(=)" "p.(=)" "" "0000666174" "00000087" "70" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Gly465Glu)" "12" "0000669134" "00000087" "10" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000723677" "00000087" "30" "2142" "8" "2142" "8" "c.2142+8C>T" "r.(=)" "p.(=)" "" "0000723678" "00000087" "10" "963" "0" "963" "0" "c.963G>A" "r.(?)" "p.(Glu321=)" "" "0000805369" "00000087" "90" "1109" "0" "1112" "0" "c.1109_1112del" "r.(?)" "p.(Thr370Argfs*48)" "" "0000873927" "00000087" "10" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000979831" "00000087" "30" "1575" "8" "1575" "8" "c.1575+8C>T" "r.(=)" "p.(=)" "" "0000979832" "00000087" "30" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173His)" "" "0000999422" "00000087" "30" "1353" "-4" "1353" "-4" "c.1353-4G>A" "r.spl?" "p.?" "" "0001007260" "00000087" "90" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Ter)" "10" "0001017111" "00000087" "90" "748" "0" "748" "0" "c.748G>T" "r.(?)" "p.(Val250Leu)" "" "0001017121" "00000087" "90" "837" "0" "838" "0" "c.837_838insT" "r.(?)" "p.(Leu280SerfsTer34)" "" "0001017130" "00000087" "90" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Ter)" "" "0001017138" "00000087" "90" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Arg316Gln)" "" "0001038706" "00000087" "30" "9502" "0" "9502" "0" "c.*7180C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000000010" "0000000163" "0000000024" "0000000166" "0000000026" "0000000171" "0000000048" "0000000165" "0000000067" "0000000164" "0000000082" "0000000167" "0000000083" "0000000169" "0000000084" "0000000170" "0000024257" "0000046850" "0000181963" "0000405751" "0000277468" "0000632328" "0000291685" "0000648374" "0000291686" "0000648375" "0000291687" "0000648376" "0000302816" "0000666174" "0000305446" "0000669134" "0000399047" "0000000165" "0000399048" "0000000168" "0000399049" "0000000171" "0000415987" "0000873927" "0000455227" "0001007260" "0000459189" "0001017111" "0000459189" "0001017130" "0000459199" "0001017121" "0000459199" "0001017138" "0000467041" "0000000163"