### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HADHB) # 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}}" "HADHB" "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit" "2" "p23" "unknown" "NG_007294.1" "UD_132118538696" "" "http://www.LOVD.nl/HADHB" "" "1" "4803" "3032" "143450" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/HADHB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-06 12:12:29" "00000" "2025-11-01 13:22:20" ## 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}}" "00009133" "HADHB" "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit" "001" "NM_000183.2" "" "NP_000174.1" "" "" "" "-251" "1937" "1425" "26467616" "26513333" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "02811" "MTPD" "mitochondrial trifunctional protein deficiency" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-12 15:39:12" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "07123" "MTPD2" "mitochondrial trifunctional protein deficiency, type 2" "AR" "620300" "" "" "" "00006" "2024-11-12 15:36:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HADHB" "02811" "HADHB" "07123" ## Individuals ## Do not remove or alter this header ## ## Count = 75 "{{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}}" "00025019" "" "" "" "1" "" "01160" "" "" "F" "no" "China" "08y05m" "0" "" "L-carnitine，adjusting the diet" "" "" "00080972" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00292676" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00427816" "" "" "" "1" "" "00006" "{PMID:Veeramah 2013:23647072}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "PatG" "00457451" "" "" "" "1" "" "00006" "{PMID:Kamijo 1994:8163672}, {PMID:Ushikubo 1996:8651282}" "" "" "" "Japan" "" "0" "" "" "" "?;Pat1" "00457453" "" "" "" "1" "" "00006" "{PMID:Ushikubo 1996:8651282}, {PMID:Spiekerkoetter 2003:12754706}, {PMID:Spiekerkoetter 2004:14694500}" "" "F" "" "United States" "" "0" "" "" "white" "Pat3;Pat7;Pat1" "00457454" "" "" "" "1" "" "00006" "{PMID:Orii 1997:9259266}, {PMID:Purevsuren 2009:19699128}, {PMID:Bo 2017:28515471}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat2;Pat5;Pat14" "00457455" "" "" "" "1" "" "00006" "{PMID:Orii 1997:9259266}, {PMID:Purevsuren 2009:19699128}, {PMID:Bo 2017:28515471}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat1;Pat4;Pat9" "00457456" "" "" "" "1" "" "00006" "{PMID:Purevsuren 2008:18693053}, {PMID:Purevsuren 2009:19699128}, {PMID:Bo 2017:28515471}" "" "F" "" "Japan" "00y00m08d" "0" "" "" "" "patient;Pat1;Pat4" "00457457" "" "" "" "1" "" "00006" "{PMID:Purevsuren 2009:19699128}, {PMID:Bo 2017:28515471}" "" "M" "yes" "Japan" "00y03m" "0" "" "" "" "Pat2;Pat7" "00457458" "" "" "" "1" "" "00006" "{PMID:Purevsuren 2009:19699128}, {PMID:Bo 2017:28515471}" "" "F" "" "Japan" "" "0" "" "" "" "Pat3;Pat8" "00457459" "" "" "" "2" "" "00006" "{PMID:Naiki 2014:24664533}, {PMID:Bo 2017:28515471}" "2-generation family, affected dizygotic twins, unaffected heterozygous carrier parents/relatives" "F" "" "Japan" "" "0" "" "" "" "FamPatIV1;Pat10" "00457460" "" "" "00457459" "1" "" "00006" "{PMID:Naiki 2014:24664533}, {PMID:Bo 2017:28515471}" "twin brother" "M" "" "Japan" "" "0" "" "" "" "FamPatIV2;Pat11" "00457461" "" "" "" "1" "" "00006" "{PMID:Labarthe 2006:16523289}" "" "F" "" "France" "" "0" "" "" "" "" "00457462" "" "" "" "1" "" "00006" "{PMID:Park 2009:19880769}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "" "0" "" "" "" "patient" "00457463" "" "" "" "2" "" "00006" "{PMID:Hong 2013:24314034}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "" "Korea" "" "0" "" "" "" "FamPatII1" "00457464" "" "" "00457463" "1" "" "00006" "{PMID:Hong 2013:24314034}" "proband" "M" "" "Korea" "" "0" "" "" "" "FamPatII2" "00457504" "" "" "" "1" "" "00006" "{PMID:Li 2021:34543737}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00457550" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat46" "00457551" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat47" "00457552" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat48" "00457553" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat49" "00457554" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat50" "00457555" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat51" "00457556" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat52" "00457572" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat1" "00457573" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat2" "00457574" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat3" "00457575" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat4" "00457577" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "9d" "0" "" "" "" "Pat6" "00457580" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}" "patient" "F" "" "Turkey" "8d" "0" "" "" "" "Pat1" "00457581" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}" "patient" "M" "" "United States" "12d" "0" "" "" "white" "Pat2" "00457582" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}" "patient" "F" "" "United States" "9d" "0" "" "" "white" "Pat3" "00457583" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}" "patient" "M" "" "United States" "14d" "0" "" "" "white" "Pat4" "00457584" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}" "patient" "M" "" "United States" "" "0" "" "" "white" "Pat5" "00457585" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}" "patient" "M" "" "United States" "" "0" "" "" "white" "Pat6" "00457586" "" "" "" "2" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}, {PMID:Spiekerkoetter 2004:14694500}" "family, 2 affected brothers" "M" "" "United States" "" "0" "" "" "Hispanic" "FamPat8;Pat2" "00457587" "" "" "00457586" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}" "brother" "M" "" "United States" "" "0" "" "" "Hispanic" "FamPat9" "00457588" "" "" "" "2" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}, {PMID:Spiekerkoetter 2004:14694500}" "family, 2 affected brothers" "M" "" "Israel" "" "0" "" "" "" "FamPat10;Pat3" "00457589" "" "" "00457588" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}, {PMID:Spiekerkoetter 2004:14694500}" "brother" "M" "" "Israel" "" "0" "" "" "" "FamPat11;Pat4" "00457590" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}, {PMID:Spiekerkoetter 2004:14694500}" "patient" "M" "" "United States" "" "0" "" "" "white" "Pat12;Pat5" "00457591" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}, {PMID:Spiekerkoetter 2004:14694500}" "patient" "M" "" "United States" "" "0" "" "" "white" "Pat13;Pat6" "00457592" "" "" "" "2" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}, {PMID:Spiekerkoetter 2004:14694500}, {PMID:Gillingham 2005:16040264}" "family, 2 affected sibs" "F" "" "United States" "" "0" "" "" "white" "Pat14;Pat7;Pat1" "00457593" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2003:12754706}, {PMID:Spiekerkoetter 2004:14694500}" "patient" "M" "" "United States" "" "0" "" "" "white" "Pat15;Pat8" "00457607" "" "" "" "1" "" "00006" "{PMID:Sperk 2010:20659813}" "" "M" "" "Germany" "" "0" "" "" "" "Pat5" "00457608" "" "" "" "1" "" "00006" "{PMID:Sperk 2010:20659813}" "" "F" "" "Germany" "" "0" "" "" "" "Pat6" "00457619" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat11" "00457630" "" "" "" "1" "" "00006" "{PMID:Choi 2007:17143551}" "" "F" "" "Korea" "" "0" "" "" "" "Pat3" "00457631" "" "" "" "1" "" "00006" "{PMID:Choi 2007:17143551}" "" "M" "" "Korea" "" "0" "" "" "" "Pat4" "00457633" "" "" "" "1" "" "00006" "{PMID:Yagi 2011:22000755}, {PMID:Bo 2017:28515471}" "" "F" "" "Japan" "" "0" "" "" "" "patient;Pat12" "00457635" "" "" "" "1" "" "00006" "{PMID:Diekman 2013:23430487}" "" "F" "yes" "Netherlands" "10d" "0" "" "" "white" "Pat1" "00457636" "" "" "" "1" "" "00006" "{PMID:Diekman 2013:23430487}" "" "M" "yes" "Netherlands" "31d" "0" "" "" "" "Pat2" "00457671" "" "" "" "1" "" "00006" "{PMID:Kobayashi 2015:25420603}, {PMID:Bo 2017:28515471}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "00y00m40d" "0" "" "" "" "patient;Pat5" "00457672" "" "" "" "1" "" "00006" "{PMID:Ojala 2015:26070998}" "" "" "" "Finland" "" "0" "" "" "" "patient" "00457673" "" "" "" "1" "" "00006" "{PMID:Fu 2015:28649548}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00457674" "" "" "" "1" "" "00006" "{PMID:Shahrokhi 2017:28112527}" "" "" "" "Iran" "" "0" "" "" "" "patient" "00457680" "" "" "" "1" "" "00006" "{PMID:Lu 2018:29956646}" "" "M" "" "China" "" "0" "" "" "" "Pat1" "00457681" "" "" "" "1" "" "00006" "{PMID:Lu 2018:29956646}" "" "M" "" "China" "" "0" "" "" "" "Pat2" "00457683" "" "" "00457592" "1" "" "00006" "{PMID:Gillingham 2005:16040264}" "sib" "F" "" "United States" "" "0" "" "" "" "Pat3" "00457715" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat3" "00457723" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat11" "00457724" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat12" "00457728" "" "" "" "1" "" "00006" "{PMID:Bo 2017:28515471}" "" "M" "" "Japan" "13d" "0" "" "" "" "Pat3" "00457729" "" "" "" "1" "" "00006" "{PMID:Bo 2017:28515471}" "" "M" "" "Japan" "2y" "0" "" "" "" "Pat6" "00457730" "" "" "" "1" "" "00006" "{PMID:van Vliet 2018:28685493}" "" "F" "" "Netherlands" "" "0" "" "" "" "patient" "00457731" "" "" "" "1" "" "00006" "{PMID:Yamamoto 2017:28132977}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00457732" "" "" "" "1" "" "00006" "{PMID:Liu 2019:31521624}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00457738" "" "" "" "1" "" "00006" "{PMID:Vieira Neto 2024:39088276}" "" "F" "" "United States" "04y" "0" "" "" "" "patient;FB854" "00457739" "" "" "" "1" "" "00006" "{PMID:Vieira Neto 2024:39088276}" "" "M" "" "United States" "" "0" "" "" "" "FB861" "00457740" "" "" "" "1" "" "00006" "{PMID:Ishikawa 2023:37388542}" "" "F" "" "Japan" "" "0" "" "" "" "patient" "00457950" "" "" "" "1" "" "00006" "{PMID:Veenvliet 2022:35782614}" "" "F" "" "Netherlands" "" "0" "" "" "" "patient" "00457951" "" "" "" "1" "" "00006" "{PMID:Das 2006:16423905}" "2-generation family, 1 affected, unaffected heterozygous carrier father/non-carrier mother" "M" "" "Germany" "" "0" "" "" "" "patient" "00457959" "" "" "" "1" "" "00006" "{PMID:Sander 2005:15896654}" "" "" "" "Germany" "" "0" "" "" "" "Pat8" "00457961" "" "" "" "1" "" "00006" "{PMID:Sander 2005:15896654}" "" "" "" "Germany" "" "0" "" "" "" "Pat10" "00457962" "" "" "" "4" "" "00006" "{PMID:Sander 2005:15896654}" "family, affected and 3 affected sibs (1d-deceased)" "" "" "Turkey" "" "0" "" "" "" "Pat11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 75 "{{individualid}}" "{{diseaseid}}" "00025019" "02811" "00080972" "02811" "00292676" "00198" "00427816" "00344" "00457451" "02811" "00457453" "02811" "00457454" "02811" "00457455" "02811" "00457456" "02811" "00457457" "02811" "00457458" "02811" "00457459" "02811" "00457460" "02811" "00457461" "02811" "00457462" "02811" "00457463" "05113" "00457464" "05113" "00457504" "02811" "00457550" "02811" "00457551" "02811" "00457552" "02811" "00457553" "02811" "00457554" "02811" "00457555" "02811" "00457556" "02811" "00457572" "00198" "00457573" "00198" "00457574" "00198" "00457575" "00198" "00457577" "00198" "00457580" "02811" "00457581" "02811" "00457582" "02811" "00457583" "02811" "00457584" "02811" "00457585" "02811" "00457586" "02811" "00457587" "02811" "00457588" "02811" "00457589" "02811" "00457590" "02811" "00457591" "02811" "00457592" "02811" "00457593" "02811" "00457607" "00198" "00457608" "00198" "00457619" "00198" "00457630" "02811" "00457631" "02811" "00457633" "02811" "00457635" "02811" "00457636" "02811" "00457671" "02811" "00457672" "00198" "00457673" "02811" "00457674" "02811" "00457680" "05113" "00457681" "05113" "00457683" "02811" "00457715" "00198" "00457723" "00198" "00457724" "00198" "00457728" "02811" "00457729" "02811" "00457730" "02811" "00457731" "05113" "00457732" "02811" "00457738" "02811" "00457739" "02811" "00457740" "02811" "00457950" "02811" "00457951" "02811" "00457959" "00198" "00457961" "00198" "00457962" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 02811, 05113, 07123 ## Count = 72 "{{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}}" "0000021245" "02811" "00025019" "01160" "Isolated (sporadic)" "" "lower limb weakness" "" "" "" "" "" "" "" "" "" "" "" "0000060541" "02811" "00080972" "01758" "Familial, autosomal recessive" "" "Trifunctional protein deficiency (OMIM:609015)" "" "" "" "" "" "" "" "" "" "" "" "0000318790" "00344" "00427816" "00006" "Isolated (sporadic)" "18y" "birth at term, Apgar 4; infantile spasms, nonresponsive to ACTH, controlled with vigabatrin, 3y6m-complex partial seizures, 14y-recurrence of clusters of flexor spasms, now refractory; EEG 6m-hypsarrhythmia (resolved on vigabatrin), subsequently bihemispheric slowing, multifocal sharp waves; epileptic encephalopathy; mild motor delay, moderate to severe speech-language delay; 1st-grade level; movements slow with poor coordination; emotional lability, compulsive behaviors" "00y06m" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000345915" "02811" "00457451" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345917" "02811" "00457453" "00006" "Familial, autosomal recessive" "23y" "4m-hypoglycemia, hyperammonemia, mild liver dysfunction, 3 hydroxydicarboxylic aciduria; no cardiomyopathy, skeletal myopathy, neuropathy" "03y" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345918" "02811" "00457454" "00006" "Familial, autosomal recessive" "" "see paper; ..., myopathic, muscle pain, weakness; elevated CK, myoglobinuria; normal development" "15y" "" "myalgia" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345919" "02811" "00457455" "00006" "Familial, autosomal recessive" "" "see paper; ..., respiratory failure, hypotonia; liver dysfunction; delayed development" "01y01m" "" "lethargy, respiratory failure" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345920" "02811" "00457456" "00006" "Familial, autosomal recessive" "" "see paper; ..., 8d-deceased; cardiomyopathy, respiratory distress, hypoglycemia, hyperammonemia, metabolic acidosis, liver dysfunction" "00y00m00d" "" "respiratory failure" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345921" "02811" "00457457" "00006" "Familial, autosomal recessive" "" "see paper; ..., 3m-deceased; cardiomyopathy, respiratory distress; hypoglycemia, hyperammonemia" "00y00m05d" "" "cardiomyopathy" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345922" "02811" "00457458" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, coma, convulsion, developmental delay; lactic acidemia, liver dysfunction; developmental delay" "00y09m" "" "seizure, lactic acidosis" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345923" "02811" "00457459" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., 35d-hypoparathyroidism; 2y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction" "02y" "" "rhabdomyolysis" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345924" "02811" "00457460" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., 4m-hypoparathyroidism; 3y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction" "03y" "" "rhabdomyolysis" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345925" "02811" "00457461" "00006" "Familial, autosomal recessive" "" "see paper; ..., admitted for lethargy, hypotonia, hypomobility due to muscular pains, areflexia; mild hypoglycaemia; peripheral neuropathy, decreased sensitive nerve conduction velocity; 4m-hypoparathyroidism; 1y3m-rhabdomyolysis; 4m-peripheral polyneuropathy; hypotonia; liver dysfunction; hypoparathyroidism" "" "00y04m" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345926" "02811" "00457462" "00006" "Familial, autosomal recessive" "" "see paper; ..., 36w-birth, weight 2600 g (25-50th), length 48.5 cm (50-75th ), OFC 33 cm (50th); 1d-chest retractions with grunting sound, severe metabolic acidosis; hypotension, oliguric renal failure" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000345927" "05113" "00457463" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 6y-distal limb weakness, gait disability; 15y-uses walker; 23y-operation bilateral feet due to walking difficulties; 37y-muscle weakness, atrophies of bilateral distal muscles upper/lower limbs, loss of sensory/tendon reflexes" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000345928" "05113" "00457464" "00006" "Familial, autosomal recessive" "34y" "see paper; ..., 5y-lower leg weakness,bilateral foot drop, gait disturbance; 12y-uses walker; 34y-muscle weakness/atrophy began, distal part lower limbs prominently involved, toe/heel gait defects" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000345968" "02811" "00457504" "00006" "Familial, autosomal recessive" "01y09m" "see paper; ..., early milestones slightly delayed; 14m-recurrent afebrile convulsion, limbs/trunk hypotonia" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346014" "02811" "00457550" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346015" "02811" "00457551" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346016" "02811" "00457552" "00006" "Familial, autosomal recessive" "" "severe neonatal form; abnormalities third trimester pregnancy ; died" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346017" "02811" "00457553" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346018" "02811" "00457554" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346019" "02811" "00457555" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346020" "02811" "00457556" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346036" "00198" "00457572" "00006" "Familial, autosomal recessive" "11.3y" "recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running and climbing stairs" "" "2y9m" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346037" "00198" "00457573" "00006" "Familial, autosomal recessive" "11.9y" "recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running, positive Gowers’ sign" "" "2y1m" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346038" "00198" "00457574" "00006" "Familial, autosomal recessive" "6.8y" "recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running" "" "4y11m" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346039" "00198" "00457575" "00006" "Familial, autosomal recessive" "23.3y" "recurrent rhabdomyolysis, sensorimotor polyneuropathy, walk with assistance" "" "10y8m" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346041" "00198" "00457577" "00006" "Familial, autosomal recessive" "" "9d-deceased (cardiomyopathy); 5d-tachypnea, metabolic acidosis" "" "5d" "" "" "" "" "" "" "MTPD1" "fatty acid oxidation disorder" "" "0000346044" "02811" "00457580" "00006" "Familial, autosomal recessive" "8d" "8d-deceased; hypoglycemia, cardiomyopathy, no skeletal myopathy, no neuropathy" "5d" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346045" "02811" "00457581" "00006" "Unknown" "12d" "12d-deceased; hypoglycemia, cardiomyopathy, no skeletal myopathy, no neuropathy" "1d" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346046" "02811" "00457582" "00006" "Unknown" "9d" "9d-deceased; hypoglycemia, cardiomyopathy, no skeletal myopathy, no neuropathy" "2d" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346047" "02811" "00457583" "00006" "Unknown" "14d" "14d-deceased; hypoglycemia, cardiomyopathy, no skeletal myopathy, no neuropathy" "4d" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346048" "02811" "00457584" "00006" "Familial, autosomal recessive" "1y5m" "hypoglycemia, lethargy, no skeletal myopathy, no neuropathy" "5m" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346049" "02811" "00457585" "00006" "Familial, autosomal recessive" "2y2m" "hypoglycemia, lethargy, no skeletal myopathy, no neuropathy" "2d" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346050" "02811" "00457586" "00006" "Familial, autosomal recessive" "4y" "no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy" "1y" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346051" "02811" "00457587" "00006" "Familial, autosomal recessive" "1y7m" "no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy" "1y" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346052" "02811" "00457588" "00006" "Unknown" "15y" "no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy" "<2y" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346053" "02811" "00457589" "00006" "Familial, autosomal recessive" "12y" "no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy" "<2y" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346054" "02811" "00457590" "00006" "Unknown" "10y" "no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy (axonal/myelin degeneration)" "6y" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346055" "02811" "00457591" "00006" "Familial, autosomal recessive" "25y" "no hypoglycemia, cardiomyopathy during metabolic decompensation, skeletal myopathy, peripheral neuropathy (axonal/myelin degeneration)" "3y" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346056" "02811" "00457592" "00006" "Unknown" "11y" "no hypoglycemia, no cardiomyopathy, skeletal myopathy" "3y" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346057" "02811" "00457593" "00006" "Familial, autosomal recessive" "3y4m" "no hypoglycemia, no cardiomyopathy, skeletal myopathy" "<2y" "" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346067" "00198" "00457607" "00006" "Familial, autosomal recessive" "" "neonatal onset; cardiomyopathy, myopathy; no neuropathy; no retinopathy; hypoglycemia" "3d" "" "" "" "" "" "" "" "MTPD2" "newborn screening,suspected disorder TFP complex" "" "0000346068" "00198" "00457608" "00006" "Familial, autosomal recessive" "" "neonatal onset; cardiomyopathy, no myopathy; no neuropathy; no retinopathy; hypoglycemia" "2d" "" "" "" "" "" "" "" "MTPD2" "newborn screening,suspected disorder TFP complex" "" "0000346079" "00198" "00457619" "00006" "Familial, autosomal recessive" "4y" "newborn screening; no motor neuropathy, no sensory neuropathy; walk independently" "" "" "" "" "" "" "" "" "MTPD2" "newborn screening" "" "0000346090" "02811" "00457630" "00006" "Familial, autosomal recessive" "12y" "see paper; ..." "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346091" "02811" "00457631" "00006" "Familial, autosomal recessive" "2y1m" "see paper; ..." "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346093" "02811" "00457633" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., fatigued easily on long walk, myalgia, 9y-rhabdomyolysis; no hypoparathyroidism; peripheral neuropathy; maternal pregnancy no complications" "" "" "3y" "fatigued easily on long walk" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346094" "02811" "00457635" "00006" "Familial, autosomal recessive" "" "see paper; ..., 10d-deceased (severe necrotizing enterocolitis, cardiomyopathy, multiorgan failure); newborn screening newborn screening LCHAD deficiency" "" "" "" "" "" "" "" "" "MTPD2" "newborn screening LCHAD deficiency" "" "0000346095" "02811" "00457636" "00006" "Familial, autosomal recessive" "" "see paper; ..., 31d-deceased (severe infant respiratory distress syndrome, hypertrophic cardiomyopathy); newborn screening newborn screening LCHAD deficiency" "" "" "" "" "" "" "" "" "MTPD2" "newborn screening LCHAD deficiency" "" "0000346130" "02811" "00457671" "00006" "Familial, autosomal recessive" "" "see paper; ..., 40d-deceased; severe metabolic acidosis; no hypoparathyroidism; no peripheral neuropathy; maternal 33w pregnancy AFLP,genital bleeding, abdominal pain" "00y00m00d" "" "cardiomyopathy" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346131" "00198" "00457672" "00006" "Familial, autosomal recessive" "" "see paper; ..., 32w-birth severely asphyxiated" "" "" "" "" "" "" "" "" "MTPD2" "" "" "0000346132" "02811" "00457673" "00006" "Familial, autosomal recessive" "" "see paper; ..., lower limb weakness" "08y" "" "lower limb weakness" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346133" "02811" "00457674" "00006" "Familial, autosomal recessive" "" "see paper; ..., myocardiopathy, impaired liver function, hypoglycemia" "" "" "" "" "" "" "" "" "MTPD2" "newborn screening" "" "0000346139" "05113" "00457680" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., infantile axonal Charcot-Marie-Tooth disease; delayed motor development, slowly-progressing distal muscle weakness with areflexia, foot deformities" "" "" "" "" "" "" "" "" "MTPD2" "infantile axonal Charcot-Marie-Tooth disease" "" "0000346140" "05113" "00457681" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., infantile axonal Charcot-Marie-Tooth disease; delayed motor development,slowly-progressing distal muscle weakness with areflexia, foot deformities" "" "" "" "" "" "" "" "" "MTPD2" "infantile axonal Charcot-Marie-Tooth disease" "" "0000346142" "02811" "00457683" "00006" "Familial, autosomal recessive" "05y" "see paper; ... (long-term follow-up)" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346173" "00198" "00457715" "00006" "Familial, autosomal recessive" "" "see paper; ..., neuropathy (axonal, sensorimotor), distal muscle atrophy, elevated creatine kinase (max. 2473 U/l), left rebnal dyplasia, small stature" "" "13y" "" "" "" "" "" "" "LCHADD" "neuropathy" "" "0000346177" "02811" "00457728" "00006" "Familial, autosomal recessive" "" "see paper; ..., 13d-deceased; no hypoparathyroidism; no peripheral neuropathy; maternal pregnancy HELLP syndrome" "8d" "" "cardiac failure" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346178" "02811" "00457729" "00006" "Familial, autosomal recessive" "" "see paper; ..., 2y-deceased rhabdomyolysis; hypoparathyroidism; no peripheral neuropathy; maternal pregnancy no complications" "2d" "" "cardiopulmonary arrest" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346179" "02811" "00457730" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., progressive dyspnoea, difficulty swallowing preceede 6d by fever, abdominal pain, vomiting, diarrhoea, increased muscle weakness" "" "" "progressive dyspnoea, difficulty swallowing" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346180" "05113" "00457731" "00006" "Familial, autosomal recessive" "55y" "see paper; ..., slowly progressive muscle weakness, sensory disturbances his lower limbs; multiple episodes exercise-induced severe muscle fatigue, brown urine childhood (disappeared by20y); peripheral axonal neuropathy; 55y-severe rhabdomyolysis" "" "" "45y" "" "" "" "" "" "MTPD2" "Charcot-Marie-Tooth disease" "" "0000346181" "02811" "00457732" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., neuromyopathic form; recurrent rhabdomyolysis; 7y-mild periodic muscle weakness, myalgia; subacute fatigue, exercise intolerance, pain in lower limbs triggered by cold/exercise" "" "" "" "" "" "" "" "" "MTPD2" "recurrent rhabdomyolysis" "" "0000346187" "02811" "00457738" "00006" "Familial, autosomal recessive" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346188" "02811" "00457739" "00006" "Familial, autosomal recessive" "20y" "see paper; ..." "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346189" "02811" "00457740" "00006" "Familial, autosomal recessive" "44y" "see paper; ..., 3y-gait disturbance, hereditary neuropathy" "" "" "" "" "" "" "" "" "MTPD2" "gait disturbance" "" "0000346400" "02811" "00457950" "00006" "Familial, autosomal recessive" "01y01m" "see paper; ..., neonatal-onset cardiomyopathy, rhabdomyolysis, hypoglycemia, lactic acidosis, \r\ntachypnea, tachycardia, hypothermia, transient hypotonia, epilepsy, delayed gross motor skills; very extensive phenotype follow-up" "" "" "" "" "" "" "" "" "MTPD2" "LCKAT deficiency" "" "0000346401" "02811" "00457951" "00006" "Familial, autosomal recessive" "00y00m42d" "see paper; ..., 42d-deceased (acute heart failure); newborn lactic acidosis, pulmonary edema, cardiomyopathy" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346409" "00198" "00457959" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 35w, Cesarean sectionweight 1900g (3 perc.); pathological CTG, placenta insufficiency" "" "" "" "" "" "" "" "" "MTPD2" "newborn screening" "" "0000346411" "00198" "00457961" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 40w, Spontaneousweight 3730g (75 perc.); pregnancy no complications" "" "" "" "" "" "" "" "" "MTPD2" "newborn screening" "" "0000346412" "00198" "00457962" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 33w, Cesarean sectionweight 1300g (3 perc.); HELLP syndrome" "" "" "" "" "" "" "" "" "MTPD2" "newborn screening" "" ## Screenings ## Do not remove or alter this header ## ## Count = 75 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025020" "00025019" "1" "01160" "01160" "2014-12-03 12:22:17" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000081084" "00080972" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293844" "00292676" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000429139" "00427816" "1" "00006" "00006" "2022-12-13 13:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000459072" "00457451" "1" "00006" "00006" "2024-11-12 16:19:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459074" "00457453" "1" "00006" "00006" "2024-11-12 16:32:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459075" "00457454" "1" "00006" "00006" "2024-11-12 16:44:26" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459076" "00457455" "1" "00006" "00006" "2024-11-12 16:48:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459077" "00457456" "1" "00006" "00006" "2024-11-12 21:26:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459078" "00457457" "1" "00006" "00006" "2024-11-12 21:26:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459079" "00457458" "1" "00006" "00006" "2024-11-12 21:26:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459080" "00457459" "1" "00006" "00006" "2024-11-12 22:21:16" "" "" "SEQ" "DNA" "" "" "0000459081" "00457460" "1" "00006" "00006" "2024-11-12 22:25:38" "" "" "SEQ" "DNA" "" "" "0000459082" "00457461" "1" "00006" "00006" "2024-11-12 22:33:12" "" "" "SEQ" "DNA" "" "" "0000459083" "00457462" "1" "00006" "00006" "2024-11-13 09:42:04" "" "" "SEQ" "DNA" "" "" "0000459084" "00457463" "1" "00006" "00006" "2024-11-13 09:52:36" "00006" "2024-11-13 10:00:32" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000459085" "00457464" "1" "00006" "00006" "2024-11-13 09:52:36" "00006" "2024-11-13 10:00:32" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000459124" "00457504" "1" "00006" "00006" "2024-11-13 19:17:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459170" "00457550" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459171" "00457551" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459172" "00457552" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459173" "00457553" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459174" "00457554" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459175" "00457555" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459176" "00457556" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459192" "00457572" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459193" "00457573" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459194" "00457574" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459195" "00457575" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459197" "00457577" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459200" "00457580" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459201" "00457581" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459202" "00457582" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459203" "00457583" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459204" "00457584" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459205" "00457585" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459206" "00457586" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459207" "00457587" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459208" "00457588" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459209" "00457589" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459210" "00457590" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459211" "00457591" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459212" "00457592" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459213" "00457593" "1" "00006" "00006" "2024-11-14 19:45:20" "" "" "SEQ" "DNA" "" "" "0000459227" "00457607" "1" "00006" "00006" "2024-11-15 09:52:47" "" "" "SEQ" "DNA" "" "" "0000459228" "00457608" "1" "00006" "00006" "2024-11-15 09:52:47" "" "" "SEQ" "DNA" "" "" "0000459239" "00457619" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459250" "00457630" "1" "00006" "00006" "2024-11-15 12:05:35" "" "" "SEQ" "DNA" "" "" "0000459251" "00457631" "1" "00006" "00006" "2024-11-15 12:05:35" "" "" "SEQ" "DNA" "" "" "0000459253" "00457633" "1" "00006" "00006" "2024-11-15 12:18:32" "" "" "SEQ" "DNA" "" "" "0000459255" "00457635" "1" "00006" "00006" "2024-11-15 13:11:45" "" "" "SEQ" "DNA" "" "" "0000459256" "00457636" "1" "00006" "00006" "2024-11-15 13:11:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459291" "00457671" "1" "00006" "00006" "2024-11-15 19:37:16" "" "" "SEQ" "DNA" "" "" "0000459292" "00457672" "1" "00006" "00006" "2024-11-15 19:45:24" "" "" "SEQ" "DNA" "" "" "0000459293" "00457673" "1" "00006" "00006" "2024-11-15 20:10:57" "" "" "SEQ" "DNA" "" "" "0000459294" "00457674" "1" "00006" "00006" "2024-11-15 20:59:00" "" "" "SEQ" "DNA" "" "" "0000459300" "00457680" "1" "00006" "00006" "2024-11-16 09:20:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000459301" "00457681" "1" "00006" "00006" "2024-11-16 09:24:54" "" "" "SEQ-NG" "DNA" "" "" "0000459303" "00457683" "1" "00006" "00006" "2024-11-16 10:12:52" "" "" "SEQ" "DNA" "" "" "0000459335" "00457715" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459343" "00457723" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459344" "00457724" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459348" "00457728" "1" "00006" "00006" "2024-11-16 17:08:42" "" "" "SEQ" "DNA" "" "" "0000459349" "00457729" "1" "00006" "00006" "2024-11-16 17:08:42" "" "" "SEQ" "DNA" "" "" "0000459350" "00457730" "1" "00006" "00006" "2024-11-16 17:28:19" "" "" "SEQ" "DNA" "" "" "0000459351" "00457731" "1" "00006" "00006" "2024-11-16 18:24:42" "" "" "SEQ-NG" "DNA" "" "WES" "0000459352" "00457732" "1" "00006" "00006" "2024-11-16 19:16:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000459358" "00457738" "1" "00006" "00006" "2024-11-16 19:53:05" "" "" "SEQ" "DNA" "" "" "0000459359" "00457739" "1" "00006" "00006" "2024-11-16 19:53:05" "" "" "SEQ" "DNA" "" "" "0000459360" "00457740" "1" "00006" "00006" "2024-11-16 19:58:40" "" "" "SEQ" "DNA" "" "" "0000459570" "00457950" "1" "00006" "00006" "2024-11-22 13:14:18" "00006" "2024-11-22 13:22:06" "SEQ" "DNA" "" "" "0000459571" "00457951" "1" "00006" "00006" "2024-11-22 13:26:02" "" "" "SEQ" "DNA" "" "" "0000459579" "00457959" "1" "00006" "00006" "2024-11-22 14:42:36" "" "" "SEQ" "DNA" "" "" "0000459581" "00457961" "1" "00006" "00006" "2024-11-22 14:42:36" "" "" "SEQ" "DNA" "" "" "0000459582" "00457962" "1" "00006" "00006" "2024-11-22 14:42:36" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 69 "{{screeningid}}" "{{geneid}}" "0000025020" "HADHB" "0000081084" "HADHB" "0000459072" "HADHB" "0000459074" "HADHB" "0000459075" "HADHB" "0000459076" "HADHB" "0000459077" "HADHB" "0000459078" "HADHB" "0000459079" "HADHB" "0000459080" "HADHB" "0000459081" "HADHB" "0000459082" "HADHB" "0000459083" "HADHB" "0000459084" "HADHB" "0000459085" "HADHB" "0000459170" "HADHB" "0000459171" "HADHB" "0000459172" "HADHB" "0000459173" "HADHB" "0000459174" "HADHB" "0000459175" "HADHB" "0000459176" "HADHB" "0000459192" "HADHB" "0000459193" "HADHB" "0000459194" "HADHB" "0000459195" "HADHB" "0000459197" "HADHB" "0000459200" "HADHB" "0000459201" "HADHB" "0000459202" "HADHB" "0000459203" "HADHB" "0000459204" "HADHB" "0000459205" "HADHB" "0000459206" "HADHB" "0000459207" "HADHB" "0000459208" "HADHB" "0000459209" "HADHB" "0000459210" "HADHB" "0000459211" "HADHB" "0000459212" "HADHB" "0000459213" "HADHB" "0000459227" "HADHB" "0000459228" "HADHB" "0000459239" "HADHB" "0000459250" "HADHB" "0000459251" "HADHB" "0000459253" "HADHB" "0000459255" "HADHB" "0000459256" "HADHB" "0000459291" "HADHB" "0000459292" "HADHB" "0000459293" "HADHB" "0000459294" "HADHB" "0000459303" "HADHB" "0000459335" "HADHB" "0000459343" "HADHB" "0000459344" "HADHB" "0000459348" "HADHA" "0000459348" "HADHB" "0000459349" "HADHB" "0000459350" "HADHB" "0000459358" "HADHB" "0000459359" "HADHB" "0000459360" "HADHB" "0000459570" "HADHB" "0000459571" "HADHB" "0000459579" "HADHB" "0000459581" "HADHA" "0000459582" "HADHA" ## 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 = 168 "{{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}}" "0000047880" "3" "90" "2" "26502111" "26502111" "subst" "8.12473E-6" "01160" "HADHB_000001" "g.26502111C>T" "" "" "" "g.34496C>T" "" "Germline" "yes" "" "0" "" "" "g.26279243C>T" "" "pathogenic" "" "0000130170" "3" "70" "2" "26502002" "26502002" "subst" "0" "01758" "HADHB_000002" "g.26502002G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.26279134G>A" "" "likely pathogenic" "ACMG" "0000281223" "0" "30" "2" "26467465" "26467465" "subst" "0.00250065" "02325" "HADHA_000003" "g.26467465C>A" "" "" "" "HADHA(NM_000182.5):c.-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26244597C>A" "" "likely benign" "" "0000281225" "0" "10" "2" "26477127" "26477129" "dup" "0" "02325" "HADHB_000004" "g.26477127_26477129dup" "" "" "" "HADHB(NM_000183.3):c.5_7dupCTA (p.T2dup), HADHB(NM_000183.3):c.8delTinsCTAT (p.T2dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26254259_26254261dup" "" "benign" "" "0000288928" "0" "30" "2" "26507807" "26507807" "subst" "0.000901977" "01943" "HADHB_000011" "g.26507807C>T" "" "" "" "HADHB(NM_001281513.1):c.1140C>T (p.Y380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26284939C>T" "" "likely benign" "" "0000288929" "0" "70" "2" "26486319" "26486319" "subst" "1.62423E-5" "01943" "HADHB_000006" "g.26486319C>T" "" "" "" "HADHB(NM_001281513.1):c.115C>T (p.R39C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26263451C>T" "" "likely pathogenic" "" "0000288930" "0" "50" "2" "26508330" "26508330" "subst" "1.62488E-5" "01943" "HADHB_000012" "g.26508330G>A" "" "" "" "HADHB(NM_001281513.1):c.1214G>A (p.G405E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26285462G>A" "" "VUS" "" "0000288931" "0" "30" "2" "26483897" "26483897" "subst" "0.00209795" "01943" "HADHB_000005" "g.26483897G>T" "" "" "" "HADHB(NM_001281513.1):c.9G>T (p.L3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26261029G>T" "" "likely benign" "" "0000515464" "0" "30" "2" "26410302" "26410302" "subst" "4.83947E-5" "01804" "HADHA_000007" "g.26410302G>A" "" "" "" "GAREML(NM_001168241.1):c.1801G>A (p.(Ala601Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26187433G>A" "" "likely benign" "" "0000515466" "0" "50" "2" "26410998" "26410998" "subst" "0" "01804" "HADHA_000009" "g.26410998C>T" "" "" "" "GAREML(NM_001168241.1):c.2497C>T (p.(Arg833Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26188129C>T" "" "VUS" "" "0000515467" "0" "50" "2" "26414235" "26414235" "subst" "1.2183E-5" "02325" "HADHA_000010" "g.26414235C>T" "" "" "" "HADHA(NM_000182.5):c.2176G>A (p.A726T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26191366C>T" "" "VUS" "" "0000515468" "0" "50" "2" "26414378" "26414378" "subst" "0" "01804" "HADHA_000011" "g.26414378C>A" "" "" "" "HADHA(NM_000182.4):c.2120G>T (p.(Gly707Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26191509C>A" "" "VUS" "" "0000515469" "0" "30" "2" "26414386" "26414386" "subst" "6.50354E-5" "02325" "HADHA_000012" "g.26414386G>A" "" "" "" "HADHA(NM_000182.5):c.2112C>T (p.A704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26191517G>A" "" "likely benign" "" "0000515470" "0" "30" "2" "26415198" "26415198" "subst" "0.00414609" "01943" "HADHA_000013" "g.26415198G>A" "" "" "" "HADHA(NM_000182.4):c.1981C>T (p.L661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26192329G>A" "" "likely benign" "" "0000515471" "0" "30" "2" "26415218" "26415218" "subst" "0" "01804" "HADHA_000014" "g.26415218C>T" "" "" "" "HADHA(NM_000182.4):c.1961G>A (p.(Ser654Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26192349C>T" "" "likely benign" "" "0000515473" "0" "30" "2" "26426977" "26426977" "subst" "3.24863E-5" "01804" "HADHA_000015" "g.26426977C>T" "" "" "" "HADHA(NM_000182.4):c.1174G>A (p.(Ala392Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26204108C>T" "" "likely benign" "" "0000515474" "0" "50" "2" "26457222" "26457222" "subst" "1.62506E-5" "02325" "HADHA_000016" "g.26457222T>C" "" "" "" "HADHA(NM_000182.5):c.316A>G (p.(Met106Val), p.M106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26234354T>C" "" "VUS" "" "0000607862" "0" "30" "2" "26415267" "26415267" "subst" "3.24855E-5" "02327" "HADHA_000017" "g.26415267T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26192398T>C" "" "likely benign" "" "0000607863" "0" "30" "2" "26424010" "26424010" "subst" "0" "02327" "HADHA_000019" "g.26424010T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26201141T>G" "" "likely benign" "" "0000607864" "0" "30" "2" "26426939" "26426939" "subst" "0.000479172" "02327" "HADHA_000020" "g.26426939C>G" "" "" "" "HADHA(NM_000182.4):c.1212G>C (p.V404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26204070C>G" "" "likely benign" "" "0000607865" "0" "50" "2" "26453084" "26453084" "subst" "0.000856797" "02327" "HADHA_000022" "g.26453084C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26230216C>G" "" "VUS" "" "0000607866" "0" "30" "2" "26502152" "26502152" "subst" "0.00237207" "02327" "HADHB_000013" "g.26502152C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26279284C>T" "" "likely benign" "" "0000607867" "0" "30" "2" "26502857" "26502857" "subst" "0.00236377" "02327" "HADHB_000014" "g.26502857A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26279989A>T" "" "likely benign" "" "0000607868" "0" "30" "2" "26502880" "26502880" "subst" "0.00238087" "02327" "HADHB_000015" "g.26502880A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26280012A>G" "" "likely benign" "" "0000607869" "0" "30" "2" "26502941" "26502941" "subst" "0.00236391" "02327" "HADHB_000016" "g.26502941C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26280073C>T" "" "likely benign" "" "0000607870" "0" "30" "2" "26507807" "26507807" "subst" "0.000901977" "02327" "HADHB_000011" "g.26507807C>T" "" "" "" "HADHB(NM_001281513.1):c.1140C>T (p.Y380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26284939C>T" "" "likely benign" "" "0000607871" "0" "30" "2" "26507830" "26507830" "subst" "0.000618168" "02327" "HADHB_000017" "g.26507830G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26284962G>A" "" "likely benign" "" "0000621011" "0" "30" "2" "26417952" "26417952" "subst" "2.03061E-5" "01943" "HADHA_000018" "g.26417952G>C" "" "" "" "HADHA(NM_000182.4):c.1620+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26195083G>C" "" "likely benign" "" "0000621012" "0" "50" "2" "26427022" "26427022" "subst" "2.03074E-5" "01943" "HADHA_000021" "g.26427022C>T" "" "" "" "HADHA(NM_000182.4):c.1129G>A (p.A377T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26204153C>T" "" "VUS" "" "0000650533" "1" "70" "2" "26486320" "26486320" "subst" "6.09088E-5" "03575" "HADHB_000018" "g.26486320G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121913132}" "Germline" "" "rs121913132" "0" "" "" "g.26263452G>A" "" "likely pathogenic" "" "0000676599" "0" "50" "2" "26424067" "26424067" "subst" "4.0621E-6" "02325" "HADHA_000025" "g.26424067A>G" "" "" "" "HADHA(NM_000182.5):c.1343T>C (p.V448A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718704" "0" "30" "2" "26426939" "26426939" "subst" "0.000479172" "01943" "HADHA_000020" "g.26426939C>G" "" "" "" "HADHA(NM_000182.4):c.1212G>C (p.V404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718705" "0" "50" "2" "26438044" "26438044" "subst" "4.06626E-6" "02325" "HADHA_000026" "g.26438044C>T" "" "" "" "HADHA(NM_000182.5):c.677G>A (p.G226E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718706" "0" "70" "2" "26492866" "26492866" "subst" "4.06128E-6" "01943" "HADHB_000019" "g.26492866G>A" "" "" "" "HADHB(NM_001281513.1):c.188+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800543" "0" "50" "2" "26424085" "26424085" "subst" "8.12486E-6" "02325" "HADHA_000029" "g.26424085T>A" "" "" "" "HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849835" "0" "30" "2" "26462021" "26462021" "subst" "0.0010166" "02326" "HADHA_000031" "g.26462021A>C" "" "" "" "HADHA(NM_000182.5):c.68-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849836" "0" "70" "2" "26502057" "26502057" "subst" "8.12691E-6" "01943" "HADHB_000020" "g.26502057C>T" "" "" "" "HADHB(NM_000183.2):c.685C>T (p.R229*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858469" "0" "50" "2" "26424085" "26424085" "subst" "8.12486E-6" "01943" "HADHA_000029" "g.26424085T>A" "" "" "" "HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885106" "0" "90" "2" "26417450" "26417450" "subst" "2.03051E-5" "02327" "HADHA_000032" "g.26417450G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000908565" "0" "90" "2" "26507067" "26507070" "dup" "0" "00006" "HADHB_000021" "g.26507067_26507070dup" "" "{PMID:Veeramah 2013:23647072}" "" "1142insCTTT (A381fs)" "" "De novo" "" "" "0" "" "" "g.26284199_26284202dup" "" "VUS" "" "0000911667" "0" "10" "2" "26414336" "26414336" "subst" "0.00489363" "02326" "HADHA_000033" "g.26414336A>G" "" "" "" "HADHA(NM_000182.5):c.2146+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911668" "0" "30" "2" "26416647" "26416647" "subst" "0.000966592" "02325" "HADHA_000034" "g.26416647C>T" "" "" "" "HADHA(NM_000182.5):c.1690-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911669" "0" "10" "2" "26417950" "26417950" "subst" "0.00462561" "02325" "HADHA_000035" "g.26417950C>G" "" "" "" "HADHA(NM_000182.5):c.1620+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911670" "0" "10" "2" "26502875" "26502875" "subst" "0.210924" "02325" "HADHB_000022" "g.26502875T>C" "" "" "" "HADHB(NM_000183.3):c.825T>C (p.V275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911671" "0" "10" "2" "26505858" "26505858" "subst" "0.210397" "02325" "HADHB_000023" "g.26505858A>G" "" "" "" "HADHB(NM_000183.3):c.1014-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975175" "0" "50" "2" "26414465" "26414465" "subst" "4.06345E-5" "01804" "HADHA_000036" "g.26414465A>G" "" "" "" "HADHA(NM_000182.5):c.2033T>C (p.(Val678Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975176" "0" "30" "2" "26461966" "26461966" "subst" "0" "01804" "HADHA_000037" "g.26461966T>G" "" "" "" "HADHA(NM_000182.5):c.109+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013711" "0" "90" "2" "26502057" "26502057" "subst" "8.12691E-6" "02327" "HADHB_000020" "g.26502057C>T" "" "" "" "HADHB(NM_000183.2):c.685C>T (p.R229*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013712" "0" "50" "2" "26502182" "26502182" "subst" "4.06299E-6" "02327" "HADHB_000025" "g.26502182A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016797" "3" "90" "2" "26502160" "26502160" "subst" "0" "00006" "HADHB_000026" "g.26502160A>G" "" "{PMID:Ushikubo 1996:8651282}" "" "" "" "Germline" "" "" "0" "" "" "g.26279292A>G" "" "pathogenic (recessive)" "" "0001016798" "3" "10" "2" "26477127" "26477129" "dup" "0" "00006" "HADHB_000004" "g.26477127_26477129dup" "" "{PMID:Ushikubo 1996:8651282}" "" "6insACT" "" "Germline" "" "" "0" "" "" "g.26254259_26254261dup" "" "benign" "" "0001016801" "1" "90" "2" "26486320" "26486320" "subst" "6.09088E-5" "00006" "HADHB_000018" "g.26486320G>A" "" "{PMID:Ushikubo 1996:8651282}, {PMID:Spiekerkoetter 2003:12754706}" "" "" "" "Germline" "" "" "0" "" "" "g.26263452G>A" "" "pathogenic (recessive)" "" "0001016802" "2" "90" "2" "26502112" "26502112" "subst" "1.21866E-5" "00006" "HADHB_000027" "g.26502112G>A" "" "{PMID:Ushikubo 1996:8651282}, {PMID:Spiekerkoetter 2003:12754706}" "" "" "" "Germline" "" "" "0" "" "" "g.26279244G>A" "" "pathogenic (recessive)" "" "0001016803" "3" "90" "2" "26508381" "26508381" "subst" "0" "00006" "HADHB_000028" "g.26508381G>A" "" "{PMID:Orii 1997:9259266}" "" "G1331A" "" "Germline" "" "" "0" "" "" "g.26285513G>A" "" "pathogenic (recessive)" "" "0001016804" "11" "90" "2" "26508381" "26508381" "subst" "0" "00006" "HADHB_000028" "g.26508381G>A" "" "{PMID:Orii 1997:9259266}" "" "R411K" "" "Germline" "" "" "0" "" "" "g.26285513G>A" "" "pathogenic (recessive)" "" "0001016805" "21" "90" "2" "26502148" "26502149" "ins" "0" "00006" "HADHB_000029" "g.26502148_26502149insT" "" "{PMID:Orii 1997:9259266}" "" "777insT" "" "Germline" "" "" "0" "" "" "g.26279280_26279281insT" "" "pathogenic (recessive)" "" "0001016806" "21" "10" "2" "26502875" "26502875" "subst" "0.210924" "00006" "HADHB_000022" "g.26502875T>C" "" "{PMID:Orii 1997:9259266}" "" "T825C" "" "Germline" "" "" "0" "" "" "g.26280007T>C" "" "benign" "" "0001016808" "21" "90" "2" "26507059" "26507059" "subst" "8.12216E-6" "00006" "HADHB_000030" "g.26507059A>G" "" "{PMID:Purevsuren 2008:18693053}, {PMID:Purevsuren 2009:19699128}" "" "(H346R)" "" "Germline" "yes" "" "0" "" "" "g.26284191A>G" "" "pathogenic (recessive)" "" "0001016809" "11" "90" "2" "26500642" "26500642" "subst" "0" "00006" "HADHB_000031" "g.26500642A>G" "" "{PMID:Purevsuren 2008:18693053}, {PMID:Purevsuren 2009:19699128}" "" "" "g.33627A>G or IVS7+614A>G" "Germline" "" "" "0" "" "" "g.26277774A>G" "" "pathogenic (recessive)" "" "0001016810" "3" "90" "2" "26508414" "26508414" "subst" "4.0625E-6" "00006" "HADHB_000032" "g.26508414T>G" "" "{PMID:Purevsuren 2009:19699128}" "" "(V422G)" "" "Germline" "" "" "0" "" "" "g.26285546T>G" "" "pathogenic (recessive)" "" "0001016811" "11" "90" "2" "26502111" "26502111" "subst" "8.12473E-6" "00006" "HADHB_000001" "g.26502111C>T" "" "{PMID:Purevsuren 2009:19699128}" "" "R214C" "" "Germline" "" "" "0" "" "" "g.26279243C>T" "" "pathogenic (recessive)" "" "0001016812" "21" "90" "2" "26502867" "26502867" "del" "0" "00006" "HADHB_000033" "g.26502867del" "" "{PMID:Purevsuren 2009:19699128}" "" "817delG" "" "Germline" "" "" "0" "" "" "g.26279999del" "" "pathogenic (recessive)" "" "0001016813" "0" "90" "2" "26507059" "26507059" "subst" "8.12216E-6" "00006" "HADHB_000030" "g.26507059A>G" "" "{PMID:Purevsuren 2009:19699128}" "" "(H346R)" "cDNA expression cloning no apparent residual enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.26284191A>G" "" "NA" "" "0001016814" "0" "90" "2" "26508414" "26508414" "subst" "4.0625E-6" "00006" "HADHB_000032" "g.26508414T>G" "" "{PMID:Purevsuren 2009:19699128}" "" "(V422G)" "cDNA expression cloning no apparent residual enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.26285546T>G" "" "NA" "" "0001016815" "0" "90" "2" "26502111" "26502111" "subst" "8.12473E-6" "00006" "HADHB_000001" "g.26502111C>T" "" "{PMID:Purevsuren 2009:19699128}" "" "(R214C)" "cDNA expression cloning 0.05 enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.26279243C>T" "" "NA" "" "0001016816" "0" "90" "2" "26508381" "26508381" "subst" "0" "00006" "HADHB_000028" "g.26508381G>A" "" "" "" "(R411K)" "cDNA expression cloning 0.14 enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.26285513G>A" "" "NA" "" "0001016817" "3" "90" "2" "26507776" "26507776" "subst" "0" "00006" "HADHB_000034" "g.26507776C>T" "" "{PMID:Naiki 2014:24664533}" "" "" "LCKT activity lymphoblastoid cells 0.05" "Germline" "yes" "" "0" "" "" "g.26284908C>T" "" "pathogenic (recessive)" "" "0001016818" "3" "90" "2" "26507776" "26507776" "subst" "0" "00006" "HADHB_000034" "g.26507776C>T" "" "{PMID:Naiki 2014:24664533}" "" "" "LCKT activity lymphoblastoid cells 0.14" "Germline" "" "" "0" "" "" "g.26284908C>T" "" "pathogenic (recessive)" "" "0001016819" "3" "90" "2" "26507766" "26507766" "subst" "0" "00006" "HADHB_000035" "g.26507766A>G" "" "{PMID:Labarthe 2006:16523289}" "" "" "" "Germline" "" "" "0" "" "" "g.26284898A>G" "" "pathogenic (recessive)" "" "0001016820" "11" "90" "2" "26499943" "26499943" "dup" "0" "00006" "HADHB_000036" "g.26499943dup" "" "{PMID:Park 2009:19880769}" "" "358dupT" "" "Germline" "" "" "0" "" "" "g.26277075dup" "" "pathogenic (recessive)" "" "0001016821" "21" "90" "2" "26508414" "26508414" "subst" "4.0625E-6" "00006" "HADHB_000032" "g.26508414T>G" "" "{PMID:Park 2009:19880769}" "" "" "" "Germline" "" "" "0" "" "" "g.26285546T>G" "" "pathogenic (recessive)" "" "0001016822" "11" "90" "2" "26502058" "26502058" "subst" "0" "00006" "HADHB_000037" "g.26502058G>T" "" "{PMID:Hong 2013:24314034}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26279190G>T" "" "pathogenic (recessive)" "" "0001016823" "21" "90" "2" "26492820" "26492820" "subst" "0" "00006" "HADHB_000038" "g.26492820G>C" "" "{PMID:Hong 2013:24314034}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26269952G>C" "" "pathogenic (recessive)" "" "0001016830" "11" "90" "2" "26502058" "26502058" "subst" "0" "00006" "HADHB_000037" "g.26502058G>T" "" "{PMID:Hong 2013:24314034}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26279190G>T" "" "pathogenic (recessive)" "" "0001016831" "21" "90" "2" "26492820" "26492820" "subst" "0" "00006" "HADHB_000038" "g.26492820G>C" "" "{PMID:Hong 2013:24314034}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26269952G>C" "" "pathogenic (recessive)" "" "0001016883" "11" "90" "2" "26486347" "26486347" "subst" "4.06075E-6" "00006" "HADHB_000039" "g.26486347C>G" "" "{PMID:Li 2021:34543737}" "" "" "" "Germline" "" "" "0" "" "" "g.26263479C>G" "" "pathogenic (recessive)" "" "0001016884" "21" "90" "2" "26508444" "26508444" "subst" "8.14001E-6" "00006" "HADHB_000040" "g.26508444G>A" "" "{PMID:Li 2021:34543737}" "" "" "" "Germline" "" "" "0" "" "" "g.26285576G>A" "" "pathogenic (recessive)" "" "0001016930" "1" "90" "2" "26474335" "26480266" "del" "0" "00006" "HADHB_000051" "g.26474335_26480266del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26251467_26257398del" "" "pathogenic (recessive)" "" "0001016931" "3" "90" "2" "26486308" "26486310" "del" "0" "00006" "HADHB_000054" "g.26486308_26486310del" "" "{PMID:Boutron 2011:21549624}" "" "169_171del" "" "Germline" "" "" "0" "" "" "g.26263440_26263442del" "" "pathogenic (recessive)" "" "0001016932" "3" "90" "2" "26486348" "26486348" "subst" "0" "00006" "HADHB_000007" "g.26486348G>C" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26263480G>C" "" "pathogenic (recessive)" "" "0001016933" "3" "90" "2" "26502160" "26502160" "subst" "0" "00006" "HADHB_000026" "g.26502160A>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26279292A>G" "" "pathogenic (recessive)" "" "0001016934" "1" "90" "2" "26507060" "26507060" "del" "4.06108E-6" "00006" "HADHB_000070" "g.26507060del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26284192del" "" "pathogenic (recessive)" "" "0001016935" "3" "90" "2" "26507766" "26507766" "subst" "0" "00006" "HADHB_000035" "g.26507766A>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26284898A>G" "" "pathogenic (recessive)" "" "0001016936" "3" "90" "2" "26507776" "26507778" "del" "0" "00006" "HADHB_000072" "g.26507776_26507778del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26284908_26284910del" "" "pathogenic (recessive)" "" "0001017114" "1" "90" "2" "26496604" "26496604" "subst" "1.21864E-5" "00006" "HADHB_000045" "g.26496604A>G" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26273736A>G" "" "pathogenic (recessive)" "" "0001017115" "1" "90" "2" "26496604" "26496604" "subst" "1.21864E-5" "00006" "HADHB_000045" "g.26496604A>G" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26273736A>G" "" "pathogenic (recessive)" "" "0001017116" "1" "90" "2" "26496604" "26496604" "subst" "1.21864E-5" "00006" "HADHB_000045" "g.26496604A>G" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26273736A>G" "" "pathogenic (recessive)" "" "0001017117" "1" "90" "2" "26502969" "26502969" "subst" "1.21856E-5" "00006" "HADHB_000069" "g.26502969A>G" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26280101A>G" "" "pathogenic (recessive)" "" "0001017119" "1" "90" "2" "26507059" "26507059" "subst" "8.12216E-6" "00006" "HADHB_000030" "g.26507059A>G" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26284191A>G" "" "pathogenic (recessive)" "" "0001017132" "2" "90" "2" "26502111" "26502111" "subst" "8.12473E-6" "00006" "HADHB_000001" "g.26502111C>T" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26279243C>T" "" "pathogenic (recessive)" "" "0001017133" "2" "90" "2" "26502969" "26502969" "subst" "1.21856E-5" "00006" "HADHB_000069" "g.26502969A>G" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26280101A>G" "" "pathogenic (recessive)" "" "0001017134" "2" "90" "2" "26507071" "26507071" "subst" "4.06187E-6" "00006" "HADHB_000071" "g.26507071C>T" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26284203C>T" "" "pathogenic (recessive)" "" "0001017135" "2" "90" "2" "26507766" "26507766" "subst" "0" "00006" "HADHB_000035" "g.26507766A>G" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26284898A>G" "" "pathogenic (recessive)" "" "0001017136" "2" "90" "2" "26507812" "26507812" "dup" "0" "00006" "HADHB_000073" "g.26507812dup" "" "{PMID:Kang 2018:29519241}" "" "(G404fs*2)" "" "Germline" "" "" "0" "" "" "g.26284944dup" "" "pathogenic (recessive)" "" "0001017140" "3" "90" "2" "26486319" "26486319" "subst" "1.62423E-5" "00006" "HADHB_000006" "g.26486319C>T" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(R28C)" "" "Germline" "" "" "0" "" "" "g.26263451C>T" "" "pathogenic (recessive)" "" "0001017141" "1" "90" "2" "26502057" "26502057" "subst" "8.12691E-6" "00006" "HADHB_000020" "g.26502057C>T" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(R196X)" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26279189C>T" "" "pathogenic (recessive)" "" "0001017142" "1" "90" "2" "26486320" "26486320" "subst" "6.09088E-5" "00006" "HADHB_000018" "g.26486320G>A" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(R28H)" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26263452G>A" "" "pathogenic (recessive)" "" "0001017143" "1" "90" "2" "26501566" "26501566" "subst" "0" "00006" "HADHB_000060" "g.26501566C>G" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(S143X)" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26278698C>G" "" "pathogenic (recessive)" "" "0001017144" "1" "90" "2" "26502065" "26502065" "del" "0" "00006" "HADHB_000063" "g.26502065del" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(198FS)" "" "Germline" "" "" "0" "" "" "g.26279197del" "" "pathogenic (recessive)" "" "0001017145" "1" "90" "2" "26502097" "26502097" "subst" "0" "00006" "HADHB_000065" "g.26502097A>G" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(D209G)" "" "Germline" "" "" "0" "" "" "g.26279229A>G" "" "pathogenic (recessive)" "" "0001017146" "1" "90" "2" "26486319" "26486319" "subst" "1.62423E-5" "00006" "HADHB_000006" "g.26486319C>T" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(R28C)" "" "Germline" "" "" "0" "" "" "g.26263451C>T" "" "pathogenic (recessive)" "" "0001017147" "1" "90" "2" "26486319" "26486319" "subst" "1.62423E-5" "00006" "HADHB_000006" "g.26486319C>T" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(R28C)" "" "Germline" "" "" "0" "" "" "g.26263451C>T" "" "pathogenic (recessive)" "" "0001017148" "1" "90" "2" "26501646" "26501646" "subst" "2.03062E-5" "00006" "HADHB_000062" "g.26501646C>T" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(R170X)" "" "Germline" "" "" "0" "" "" "g.26278778C>T" "" "pathogenic (recessive)" "" "0001017149" "1" "90" "2" "26501646" "26501646" "subst" "2.03062E-5" "00006" "HADHB_000062" "g.26501646C>T" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(R170X)" "" "Germline" "" "" "0" "" "" "g.26278778C>T" "" "pathogenic (recessive)" "" "0001017150" "1" "90" "2" "26499948" "26499948" "subst" "8.12222E-6" "00006" "HADHB_000058" "g.26499948T>C" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(L88P)" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26277080T>C" "" "pathogenic (recessive)" "" "0001017151" "1" "90" "2" "26486314" "26486314" "subst" "0" "00006" "HADHB_000055" "g.26486314G>A" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(G26D)" "" "Germline" "" "" "0" "" "" "g.26263446G>A" "" "pathogenic (recessive)" "" "0001017152" "1" "90" "2" "26502951" "26502951" "subst" "4.06161E-6" "00006" "HADHB_000047" "g.26502951G>A" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(G268S)" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26280083G>A" "" "pathogenic (recessive)" "" "0001017153" "1" "90" "2" "26499983" "26499983" "subst" "4.06144E-6" "00006" "HADHB_000059" "g.26499983A>C" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(T100P)" "" "Germline" "" "" "0" "" "" "g.26277115A>C" "" "pathogenic (recessive)" "" "0001017154" "2" "90" "2" "26502931" "26502931" "subst" "0" "00006" "HADHB_000067" "g.26502931C>G" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(P261R)" "" "Germline" "" "" "0" "" "" "g.26280063C>G" "" "pathogenic (recessive)" "" "0001017155" "2" "90" "2" "26502889" "26502889" "subst" "4.06246E-6" "00006" "HADHB_000066" "g.26502889G>A" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(G247D)" "" "Germline" "" "" "0" "" "" "g.26280021G>A" "" "pathogenic (recessive)" "" "0001017156" "2" "90" "2" "26502112" "26502112" "subst" "1.21866E-5" "00006" "HADHB_000027" "g.26502112G>A" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(R214H)" "" "Germline" "" "" "0" "" "" "g.26279244G>A" "" "pathogenic (recessive)" "" "0001017157" "2" "90" "2" "26496613" "26496613" "subst" "0" "00006" "HADHB_000056" "g.26496613A>G" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "394A>G (R84G)" "" "Germline" "" "" "0" "" "" "g.26273745A>G" "" "pathogenic (recessive)" "" "0001017158" "2" "90" "2" "26496613" "26496613" "subst" "0" "00006" "HADHB_000056" "g.26496613A>G" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "395A>G (R84G)" "" "Germline" "" "" "0" "" "" "g.26273745A>G" "" "pathogenic (recessive)" "" "0001017159" "2" "90" "2" "26502931" "26502931" "subst" "0" "00006" "HADHB_000068" "g.26502931C>T" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(P261L)" "" "Germline" "" "" "0" "" "" "g.26280063C>T" "" "pathogenic (recessive)" "" "0001017160" "2" "90" "2" "26502931" "26502931" "subst" "0" "00006" "HADHB_000068" "g.26502931C>T" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(P261L)" "" "Germline" "" "" "0" "" "" "g.26280063C>T" "" "pathogenic (recessive)" "" "0001017161" "2" "90" "2" "26502112" "26502112" "subst" "1.21866E-5" "00006" "HADHB_000027" "g.26502112G>A" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(R214H)" "" "Germline" "" "" "0" "" "" "g.26279244G>A" "" "pathogenic (recessive)" "" "0001017162" "2" "90" "2" "26502931" "26502931" "subst" "0" "00006" "HADHB_000067" "g.26502931C>G" "" "{PMID:Spiekerkoetter 2003:12754706}" "" "(P261R)" "" "Germline" "" "" "0" "" "" "g.26280063C>G" "" "pathogenic (recessive)" "" "0001017179" "3" "90" "2" "26477321" "26477324" "del" "0" "00006" "HADHB_000052" "g.26477321_26477324del" "" "{PMID:Sperk 2010:20659813}" "" "88_91delTCCC" "" "Germline" "" "" "0" "" "" "g.26254453_26254456del" "" "pathogenic (recessive)" "" "0001017180" "1" "90" "2" "26477346" "26477346" "subst" "4.06392E-6" "00006" "HADHB_000053" "g.26477346C>T" "" "{PMID:Sperk 2010:20659813}" "" "IVS3+4A>T" "variant description in paper not correct!; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26254478C>T" "" "pathogenic (recessive)" "" "0001017192" "1" "90" "2" "26501619" "26501619" "subst" "0" "00006" "HADHB_000061" "g.26501619C>T" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26278751C>T" "" "pathogenic (recessive)" "" "0001017213" "1" "90" "2" "26502969" "26502969" "subst" "1.21856E-5" "00006" "HADHB_000069" "g.26502969A>G" "" "{PMID:Choi 2007:17143551}" "" "" "" "Germline" "" "" "0" "" "" "g.26280101A>G" "" "pathogenic (recessive)" "" "0001017214" "1" "90" "2" "26496604" "26496604" "subst" "1.21864E-5" "00006" "HADHB_000045" "g.26496604A>G" "" "{PMID:Choi 2007:17143551}" "" "" "" "Germline" "" "" "0" "" "" "g.26273736A>G" "" "pathogenic (recessive)" "" "0001017215" "2" "90" "2" "26507766" "26507766" "subst" "0" "00006" "HADHB_000035" "g.26507766A>G" "" "{PMID:Choi 2007:17143551}" "" "" "" "Germline" "" "" "0" "" "" "g.26284898A>G" "" "pathogenic (recessive)" "" "0001017216" "2" "90" "2" "26502969" "26502969" "subst" "1.21856E-5" "00006" "HADHB_000069" "g.26502969A>G" "" "{PMID:Choi 2007:17143551}" "" "" "" "Germline" "" "" "0" "" "" "g.26280101A>G" "" "pathogenic (recessive)" "" "0001017218" "1" "90" "2" "26501559" "26501559" "subst" "4.06065E-6" "00006" "HADHB_000041" "g.26501559C>T" "" "{PMID:Yagi 2011:22000755}" "" "R141C" "" "Germline" "" "" "0" "" "" "g.26278691C>T" "" "pathogenic (recessive)" "" "0001017219" "2" "90" "2" "26508381" "26508381" "subst" "0" "00006" "HADHB_000028" "g.26508381G>A" "" "{PMID:Yagi 2011:22000755}" "" "R411K" "" "Germline" "" "" "0" "" "" "g.26285513G>A" "" "pathogenic (recessive)" "" "0001017220" "3" "90" "2" "26486348" "26486348" "subst" "0" "00006" "HADHB_000007" "g.26486348G>C" "" "{PMID:Diekman 2013:23430487}" "" "212+1G>C" "" "Germline" "" "" "0" "" "" "g.26263480G>C" "" "pathogenic (recessive)" "" "0001017221" "3" "90" "2" "26496623" "26496623" "del" "0" "00006" "HADHB_000057" "g.26496623del" "" "{PMID:Diekman 2013:23430487}" "" "357+5delG" "" "Germline" "" "" "0" "" "" "g.26273755del" "" "pathogenic (recessive)" "" "0001017277" "3" "90" "2" "26507059" "26507059" "subst" "8.12216E-6" "00006" "HADHB_000030" "g.26507059A>G" "" "{PMID:Kobayashi 2015:25420603}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001017278" "3" "90" "2" "26506162" "26512083" "del" "0" "00006" "HADHB_000042" "g.26506162_26512083del" "" "{PMID:Ojala 2015:26070998}" "" "1109+243_1438-703del" "variant desc" "Germline" "" "" "0" "" "" "g.26283294_26289215del" "" "pathogenic (recessive)" "" "0001017279" "3" "90" "2" "26502111" "26502111" "subst" "8.12473E-6" "00006" "HADHB_000001" "g.26502111C>T" "" "{PMID:Fu 2015:28649548}" "" "" "" "Germline" "" "" "0" "" "" "g.26279243C>T" "" "pathogenic (recessive)" "" "0001017280" "3" "90" "2" "26507755" "26507755" "subst" "0" "00006" "HADHB_000043" "g.26507755A>C" "" "{PMID:Shahrokhi 2017:28112527}" "" "" "" "Germline" "" "" "0" "" "" "g.26284887A>C" "" "pathogenic (recessive)" "" "0001017287" "1" "90" "2" "26486322" "26486322" "subst" "8.12117E-6" "00006" "HADHB_000044" "g.26486322A>G" "" "{PMID:Lu 2018:29956646}" "" "" "" "Germline" "" "" "0" "" "" "g.26263454A>G" "" "pathogenic (recessive)" "" "0001017288" "2" "90" "2" "26496604" "26496604" "subst" "1.21864E-5" "00006" "HADHB_000045" "g.26496604A>G" "" "{PMID:Lu 2018:29956646}" "" "" "" "Germline" "" "" "0" "" "" "g.26273736A>G" "" "pathogenic (recessive)" "" "0001017289" "1" "90" "2" "26501527" "26501527" "subst" "0" "00006" "HADHB_000046" "g.26501527G>A" "" "{PMID:Lu 2018:29956646}" "" "" "" "Germline" "" "" "0" "" "" "g.26278659G>A" "" "pathogenic (recessive)" "" "0001017290" "2" "90" "2" "26507776" "26507776" "subst" "0" "00006" "HADHB_000034" "g.26507776C>T" "" "{PMID:Lu 2018:29956646}" "" "" "" "Germline" "" "" "0" "" "" "g.26284908C>T" "" "pathogenic (recessive)" "" "0001017293" "1" "90" "2" "26502951" "26502951" "subst" "4.06161E-6" "00006" "HADHB_000047" "g.26502951G>A" "" "{PMID:Gillingham 2005:16040264}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26280083G>A" "" "pathogenic (recessive)" "" "0001017338" "3" "50" "2" "26502084" "26502084" "subst" "1.21881E-5" "00006" "HADHB_000064" "g.26502084C>T" "" "{PMID:Diebold 2019:30682426}" "" "" "" "Germline" "" "" "0" "" "" "g.26279216C>T" "" "VUS" "" "0001017346" "1" "90" "2" "26502002" "26502002" "subst" "0" "00006" "HADHB_000002" "g.26502002G>A" "" "{PMID:Diebold 2019:30682426}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26279134G>A" "" "pathogenic (recessive)" "" "0001017347" "1" "90" "2" "26501619" "26501619" "subst" "0" "00006" "HADHB_000061" "g.26501619C>T" "" "{PMID:Diebold 2019:30682426}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26278751C>T" "" "pathogenic (recessive)" "" "0001017354" "1" "90" "2" "26507776" "26507776" "subst" "0" "00006" "HADHB_000034" "g.26507776C>T" "" "{PMID:Bo 2017:28515471}" "" "" "" "Germline" "" "" "0" "" "" "g.26284908C>T" "" "pathogenic (recessive)" "" "0001017357" "2" "90" "2" "26456748" "26471723" "del" "0" "00006" "HADHA_000063" "g.26456748_26471723del" "" "{PMID:Bo 2017:28515471}" "" "hg38" "" "Germline" "" "" "0" "" "" "g.26233880_26248855del" "" "pathogenic (recessive)" "" "0001017358" "2" "90" "2" "26508414" "26508414" "subst" "4.0625E-6" "00006" "HADHB_000032" "g.26508414T>G" "" "{PMID:Bo 2017:28515471}" "" "" "" "Germline" "" "" "0" "" "" "g.26285546T>G" "" "pathogenic (recessive)" "" "0001017359" "1" "90" "2" "26486348" "26486348" "subst" "0" "00006" "HADHB_000007" "g.26486348G>C" "" "{PMID:van Vliet 2018:28685493}" "" "" "" "Germline" "" "" "0" "" "" "g.26263480G>C" "" "pathogenic (recessive)" "" "0001017360" "2" "90" "2" "26505759" "26505759" "subst" "0" "00006" "HADHB_000009" "g.26505759T>C" "" "{PMID:van Vliet 2018:28685493}" "" "" "" "Germline" "" "" "0" "" "" "g.26282891T>C" "" "pathogenic (recessive)" "" "0001017361" "3" "90" "2" "26507793" "26507793" "subst" "0" "00006" "HADHB_000048" "g.26507793T>C" "" "{PMID:Yamamoto 2017:28132977}" "" "" "" "Germline" "" "" "0" "" "" "g.26284925T>C" "" "pathogenic (recessive)" "" "0001017362" "11" "90" "2" "26500007" "26500007" "subst" "0" "00006" "HADHB_000049" "g.26500007G>A" "" "{PMID:Liu 2019:31521624}" "" "" "" "Germline" "" "" "0" "" "" "g.26277139G>A" "" "pathogenic (recessive)" "" "0001017363" "21" "90" "2" "26499993" "26499993" "subst" "4.06293E-6" "00006" "HADHB_000050" "g.26499993T>C" "" "{PMID:Liu 2019:31521624}" "" "" "" "Germline" "" "" "0" "" "" "g.26277125T>C" "" "pathogenic (recessive)" "" "0001017369" "1" "50" "2" "26507766" "26507766" "subst" "0" "00006" "HADHB_000035" "g.26507766A>G" "" "{PMID:Vieira Neto 2024:39088276}" "" "" "" "Germline" "" "" "0" "" "" "g.26284898A>G" "" "VUS" "" "0001017370" "1" "90" "2" "26502065" "26502065" "del" "0" "00006" "HADHB_000063" "g.26502065del" "" "{PMID:Vieira Neto 2024:39088276}" "" "693delC" "" "Germline" "" "" "0" "" "" "g.26279197del" "" "pathogenic (recessive)" "" "0001017373" "2" "50" "2" "26508339" "26508339" "subst" "2.43696E-5" "00006" "HADHB_000074" "g.26508339T>C" "" "{PMID:Vieira Neto 2024:39088276}" "" "" "" "Germline" "" "" "0" "" "" "g.26285471T>C" "" "VUS" "" "0001017374" "2" "70" "2" "26502931" "26502931" "subst" "0" "00006" "HADHB_000067" "g.26502931C>G" "" "{PMID:Vieira Neto 2024:39088276}" "" "" "" "Germline" "" "" "0" "" "" "g.26280063C>G" "" "likely pathogenic (recessive)" "" "0001017375" "3" "90" "2" "26507776" "26507776" "subst" "0" "00006" "HADHB_000034" "g.26507776C>T" "" "{PMID:Ishikawa 2023:37388542}" "" "" "" "Germline" "" "" "0" "" "" "g.26284908C>T" "" "pathogenic (recessive)" "" "0001017635" "1" "90" "2" "26486320" "26486320" "subst" "6.09088E-5" "00006" "HADHB_000018" "g.26486320G>A" "" "{PMID:Veenvliet 2022:35782614}" "" "185G>A" "" "Germline" "" "" "0" "" "" "g.26263452G>A" "" "pathogenic (recessive)" "" "0001017636" "2" "90" "2" "26508339" "26508339" "subst" "2.43696E-5" "00006" "HADHB_000074" "g.26508339T>C" "" "{PMID:Veenvliet 2022:35782614}" "" "1292T>C" "" "Germline" "" "" "0" "" "" "g.26285471T>C" "" "pathogenic (recessive)" "" "0001017637" "11" "90" "2" "26508339" "26508339" "subst" "2.43696E-5" "00006" "HADHB_000074" "g.26508339T>C" "" "{PMID:Das 2006:16423905}" "" "1292T>C" "" "Germline" "" "" "0" "" "" "g.26285471T>C" "" "pathogenic (recessive)" "" "0001017638" "0" "90" "2" "26486320" "26486320" "subst" "6.09088E-5" "00006" "HADHB_000018" "g.26486320G>A" "" "{PMID:Das 2006:16423905}" "" "185G>A" "" "De novo" "" "" "0" "" "" "g.26263452G>A" "" "pathogenic (recessive)" "" "0001017644" "1" "90" "2" "26486320" "26486320" "subst" "6.09088E-5" "00006" "HADHB_000018" "g.26486320G>A" "" "{PMID:Sander 2005:15896654}" "" "185G>A" "" "Germline" "" "" "0" "" "" "g.26263452G>A" "" "pathogenic (recessive)" "" "0001017645" "3" "90" "2" "26486320" "26486320" "subst" "6.09088E-5" "00006" "HADHB_000018" "g.26486320G>A" "" "{PMID:Sander 2005:15896654}" "" "185G>A" "" "Germline" "" "" "0" "" "" "g.26263452G>A" "" "pathogenic (recessive)" "" "0001017646" "3" "90" "2" "26486316" "26486316" "subst" "0" "00006" "HADHB_000075" "g.26486316G>T" "" "{PMID:Sander 2005:15896654}" "" "181G>T" "" "Germline" "" "" "0" "" "" "g.26263448G>T" "" "pathogenic (recessive)" "" "0001017647" "2" "90" "2" "0" "0" "" "" "00006" "SNRNP200_000007" "g.?" "" "{PMID:Sander 2005:15896654}" "" "1202T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001033228" "0" "50" "2" "26424085" "26424085" "subst" "8.12486E-6" "01804" "HADHA_000029" "g.26424085T>A" "" "" "" "HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033229" "0" "50" "2" "26457222" "26457222" "subst" "1.62506E-5" "01804" "HADHA_000016" "g.26457222T>C" "" "" "" "HADHA(NM_000182.5):c.316A>G (p.(Met106Val), p.M106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045826" "0" "30" "2" "26477197" "26477197" "subst" "0.00034998" "02326" "HADHB_000076" "g.26477197T>C" "" "" "" "HADHB(NM_000183.3):c.64+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045827" "0" "30" "2" "26508421" "26508421" "subst" "0.000353544" "02326" "HADHB_000077" "g.26508421G>A" "" "" "" "HADHB(NM_000183.3):c.1371G>A (p.A457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050546" "0" "90" "2" "26502111" "26502111" "subst" "8.12473E-6" "01804" "HADHB_000001" "g.26502111C>T" "" "" "" "HADHB(NM_000183.3):c.739C>T (p.(Arg247Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050547" "0" "50" "2" "26507038" "26507038" "subst" "2.03047E-5" "01804" "HADHA_000104" "g.26507038A>T" "" "" "" "HADHB(NM_000183.3):c.1115A>T (p.(Asp372Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050548" "0" "30" "2" "26507829" "26507829" "subst" "4.06636E-6" "01804" "HADHB_000078" "g.26507829A>T" "" "" "" "HADHB(NM_000183.3):c.1224+4A>T" "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 HADHB ## Count = 168 "{{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}}" "0000047880" "00009133" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "9" "0000130170" "00009133" "70" "631" "-1" "631" "-1" "c.631-1G>A" "r.spl?" "p.?" "" "0000281223" "00009133" "30" "-402" "0" "-402" "0" "c.-402C>A" "r.(?)" "p.(=)" "" "0000281225" "00009133" "10" "5" "0" "7" "0" "c.5_7dup" "r.(?)" "p.(Thr2dup)" "" "0000288928" "00009133" "30" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(Tyr402=)" "" "0000288929" "00009133" "70" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Cys)" "" "0000288930" "00009133" "50" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Glu)" "" "0000288931" "00009133" "30" "110" "-2351" "110" "-2351" "c.110-2351G>T" "r.(=)" "p.(=)" "" "0000515464" "00009133" "30" "-57565" "0" "-57565" "0" "c.-57565G>A" "r.(?)" "p.(=)" "" "0000515466" "00009133" "50" "-56869" "0" "-56869" "0" "c.-56869C>T" "r.(?)" "p.(=)" "" "0000515467" "00009133" "50" "-53632" "0" "-53632" "0" "c.-53632C>T" "r.(?)" "p.(=)" "" "0000515468" "00009133" "50" "-53489" "0" "-53489" "0" "c.-53489C>A" "r.(?)" "p.(=)" "" "0000515469" "00009133" "30" "-53481" "0" "-53481" "0" "c.-53481G>A" "r.(?)" "p.(=)" "" "0000515470" "00009133" "30" "-52669" "0" "-52669" "0" "c.-52669G>A" "r.(?)" "p.(=)" "" "0000515471" "00009133" "30" "-52649" "0" "-52649" "0" "c.-52649C>T" "r.(?)" "p.(=)" "" "0000515473" "00009133" "30" "-40890" "0" "-40890" "0" "c.-40890C>T" "r.(?)" "p.(=)" "" "0000515474" "00009133" "50" "-10645" "0" "-10645" "0" "c.-10645T>C" "r.(?)" "p.(=)" "" "0000607862" "00009133" "30" "-52600" "0" "-52600" "0" "c.-52600T>C" "r.(?)" "p.(=)" "" "0000607863" "00009133" "30" "-43857" "0" "-43857" "0" "c.-43857T>G" "r.(?)" "p.(=)" "" "0000607864" "00009133" "30" "-40928" "0" "-40928" "0" "c.-40928C>G" "r.(?)" "p.(=)" "" "0000607865" "00009133" "50" "-14783" "0" "-14783" "0" "c.-14783C>G" "r.(?)" "p.(=)" "" "0000607866" "00009133" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Leu260=)" "" "0000607867" "00009133" "30" "812" "-5" "812" "-5" "c.812-5A>T" "r.spl?" "p.?" "" "0000607868" "00009133" "30" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Lys277Arg)" "" "0000607869" "00009133" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Ile297=)" "" "0000607870" "00009133" "30" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(Tyr402=)" "" "0000607871" "00009133" "30" "1224" "5" "1224" "5" "c.1224+5G>A" "r.spl?" "p.?" "" "0000621011" "00009133" "30" "-49915" "0" "-49915" "0" "c.-49915G>C" "r.(?)" "p.(=)" "" "0000621012" "00009133" "50" "-40845" "0" "-40845" "0" "c.-40845C>T" "r.(?)" "p.(=)" "" "0000650533" "00009133" "70" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0000676599" "00009133" "50" "-43800" "0" "-43800" "0" "c.-43800A>G" "r.(?)" "p.(=)" "" "0000718704" "00009133" "30" "-40928" "0" "-40928" "0" "c.-40928C>G" "r.(?)" "p.(=)" "" "0000718705" "00009133" "50" "-29823" "0" "-29823" "0" "c.-29823C>T" "r.(?)" "p.(=)" "" "0000718706" "00009133" "70" "254" "1" "254" "1" "c.254+1G>A" "r.spl?" "p.?" "" "0000800543" "00009133" "50" "-43782" "0" "-43782" "0" "c.-43782T>A" "r.(?)" "p.(=)" "" "0000849835" "00009133" "30" "-5846" "0" "-5846" "0" "c.-5846A>C" "r.(?)" "p.(=)" "" "0000849836" "00009133" "70" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229*)" "" "0000858469" "00009133" "50" "-43782" "0" "-43782" "0" "c.-43782T>A" "r.(?)" "p.(=)" "" "0000885106" "00009133" "90" "-50417" "0" "-50417" "0" "c.-50417G>A" "r.(?)" "p.(=)" "" "0000908565" "00009133" "90" "1144" "0" "1147" "0" "c.1144_1147dup" "r.(?)" "p.(Ser383Phefs*10)" "" "0000911667" "00009133" "10" "-53531" "0" "-53531" "0" "c.-53531A>G" "r.(?)" "p.(=)" "" "0000911668" "00009133" "30" "-51220" "0" "-51220" "0" "c.-51220C>T" "r.(?)" "p.(=)" "" "0000911669" "00009133" "10" "-49917" "0" "-49917" "0" "c.-49917C>G" "r.(?)" "p.(=)" "" "0000911670" "00009133" "10" "825" "0" "825" "0" "c.825T>C" "r.(?)" "p.(Val275=)" "" "0000911671" "00009133" "10" "1014" "-14" "1014" "-14" "c.1014-14A>G" "r.(=)" "p.(=)" "" "0000975175" "00009133" "50" "-53402" "0" "-53402" "0" "c.-53402A>G" "r.(?)" "p.(=)" "" "0000975176" "00009133" "30" "-5901" "0" "-5901" "0" "c.-5901T>G" "r.(?)" "p.(=)" "" "0001013711" "00009133" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229*)" "" "0001013712" "00009133" "50" "810" "0" "810" "0" "c.810A>G" "r.(?)" "p.(=)" "" "0001016797" "00009133" "90" "788" "0" "788" "0" "c.788A>G" "r.788a>g" "p.Asp263Gly" "" "0001016798" "00009133" "10" "5" "0" "7" "0" "c.5_7dup" "r.5_7dup" "p.Thr2dup" "" "0001016801" "00009133" "90" "182" "0" "182" "0" "c.182G>A" "r.182g>a" "p.Arg61His" "" "0001016802" "00009133" "90" "740" "0" "740" "0" "c.740G>A" "r.740g>a" "p.Arg247His" "" "0001016803" "00009133" "90" "1331" "0" "1331" "0" "c.1331G>A" "r.1331g>a" "p.Arg444Lys" "" "0001016804" "00009133" "90" "1331" "0" "1331" "0" "c.1331G>A" "r.1331g>a" "p.Arg444Lys" "" "0001016805" "00009133" "90" "776" "0" "777" "0" "c.776_777insT" "r.776_811del" "p.Leu260_Gly271del" "9" "0001016806" "00009133" "10" "825" "0" "825" "0" "c.825T>C" "r.825u>c" "p.Val275=" "" "0001016808" "00009133" "90" "1136" "0" "1136" "0" "c.1136A>G" "r.1136a>g" "p.His379Arg" "" "0001016809" "00009133" "90" "442" "614" "442" "614" "c.442+614A>G" "r.[442_443ins442+508_442+613, 442_443ins442+558_442+613]" "p.Gly148fs" "7i" "0001016810" "00009133" "90" "1364" "0" "1364" "0" "c.1364T>G" "r.1364u>g" "p.Val455Gly" "" "0001016811" "00009133" "90" "739" "0" "739" "0" "c.739C>T" "r.739c>u" "p.Arg247Cys" "" "0001016812" "00009133" "90" "817" "0" "817" "0" "c.817del" "r.817del" "p.Asp273Ilefs*20" "" "0001016813" "00009133" "90" "1136" "0" "1136" "0" "c.1136A>G" "-" "p.His379Arg" "" "0001016814" "00009133" "90" "1364" "0" "1364" "0" "c.1364T>G" "-" "p.Val455Gly" "" "0001016815" "00009133" "90" "739" "0" "739" "0" "c.739C>T" "-" "p.Arg247Cys" "" "0001016816" "00009133" "90" "1331" "0" "1331" "0" "c.1331G>A" "-" "p.Arg444Lys" "" "0001016817" "00009133" "90" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ala392Val)" "" "0001016818" "00009133" "90" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ala392Val)" "" "0001016819" "00009133" "90" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Asn389Asp)" "" "0001016820" "00009133" "90" "357" "0" "357" "0" "c.357dup" "r.(?)" "p.(Ala120Cysfs*8)" "" "0001016821" "00009133" "90" "1364" "0" "1364" "0" "c.1364T>G" "r.(?)" "p.(Val455Gly)" "" "0001016822" "00009133" "90" "686" "0" "686" "0" "c.686G>T" "r.(?)" "p.(Arg229Leu)" "" "0001016823" "00009133" "90" "210" "-1" "210" "-1" "c.210-1G>C" "r.210_254del" "p.Tyr71_Thr85del" "4i" "0001016830" "00009133" "90" "686" "0" "686" "0" "c.686G>T" "r.(?)" "p.(Arg229Leu)" "" "0001016831" "00009133" "90" "210" "-1" "210" "-1" "c.210-1G>C" "r.210_254del" "p.Tyr71_Thr85del" "4i" "0001016883" "00009133" "90" "209" "0" "209" "0" "c.209C>G" "r.(?)" "p.(Ser70*)" "" "0001016884" "00009133" "90" "1389" "5" "1389" "5" "c.1389+5G>A" "r.1225_1389del" "p.Val409_Gln463del" "" "0001016930" "00009133" "90" "-8" "-2780" "109" "2924" "c.-8-2780_109+2924del" "r.-8_109del" "p.0?" "" "0001016931" "00009133" "90" "170" "0" "172" "0" "c.170_172del" "r.(?)" "p.(Val57del)" "" "0001016932" "00009133" "90" "209" "1" "209" "1" "c.209+1G>C" "r.110_209del" "p.Ala37AspfsTer5" "" "0001016933" "00009133" "90" "788" "0" "788" "0" "c.788A>G" "r.(?)" "p.(Asp263Gly)" "" "0001016934" "00009133" "90" "1137" "0" "1137" "0" "c.1137del" "r.(?)" "p.(His379GlnfsTer76)" "" "0001016935" "00009133" "90" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Asn389Asp)" "" "0001016936" "00009133" "90" "1175" "0" "1177" "0" "c.1175_1177del" "r.(?)" "p.(Ala392_Met393delinsVal)" "" "0001017114" "00009133" "90" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Asn114Asp)" "" "0001017115" "00009133" "90" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Asn114Asp)" "" "0001017116" "00009133" "90" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Asn114Asp)" "" "0001017117" "00009133" "90" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Asn307Asp)" "" "0001017119" "00009133" "90" "1136" "0" "1136" "0" "c.1136A>G" "r.(?)" "p.(His379Arg)" "" "0001017132" "00009133" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0001017133" "00009133" "90" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Asn307Asp)" "" "0001017134" "00009133" "90" "1148" "0" "1148" "0" "c.1148C>T" "r.(?)" "p.(Ser383Leu)" "" "0001017135" "00009133" "90" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Asn389Asp)" "" "0001017136" "00009133" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Arg405Ter)" "" "0001017140" "00009133" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Cys)" "" "0001017141" "00009133" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Ter)" "" "0001017142" "00009133" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0001017143" "00009133" "90" "527" "0" "527" "0" "c.527C>G" "r.(?)" "p.(Ser176Ter)" "" "0001017144" "00009133" "90" "693" "0" "693" "0" "c.693del" "r.(?)" "p.(Ala232LeufsTer20)" "" "0001017145" "00009133" "90" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Asp242Gly)" "" "0001017146" "00009133" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Cys)" "" "0001017147" "00009133" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Cys)" "" "0001017148" "00009133" "90" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Ter)" "" "0001017149" "00009133" "90" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Ter)" "" "0001017150" "00009133" "90" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Leu121Pro)" "" "0001017151" "00009133" "90" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Gly59Asp)" "" "0001017152" "00009133" "90" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Ser)" "" "0001017153" "00009133" "90" "397" "0" "397" "0" "c.397A>C" "r.(?)" "p.(Thr133Pro)" "" "0001017154" "00009133" "90" "881" "0" "881" "0" "c.881C>G" "r.(?)" "p.(Pro294Arg)" "" "0001017155" "00009133" "90" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Gly280Asp)" "" "0001017156" "00009133" "90" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247His)" "" "0001017157" "00009133" "90" "349" "0" "349" "0" "c.349A>G" "r.(?)" "p.(Arg117Gly)" "" "0001017158" "00009133" "90" "349" "0" "349" "0" "c.349A>G" "r.(?)" "p.(Arg117Gly)" "" "0001017159" "00009133" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Pro294Leu)" "" "0001017160" "00009133" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Pro294Leu)" "" "0001017161" "00009133" "90" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247His)" "" "0001017162" "00009133" "90" "881" "0" "881" "0" "c.881C>G" "r.(?)" "p.(Pro294Arg)" "" "0001017179" "00009133" "90" "88" "0" "91" "0" "c.88_91del" "r.(?)" "p.(Gln31TyrfsTer15)" "" "0001017180" "00009133" "90" "109" "4" "109" "4" "c.109+4C>T" "r.spl" "p.?" "" "0001017192" "00009133" "90" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Gln194Ter)" "" "0001017213" "00009133" "90" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Asn307Asp)" "" "0001017214" "00009133" "90" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Asn114Asp)" "" "0001017215" "00009133" "90" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Asn389Asp)" "" "0001017216" "00009133" "90" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Asn307Asp)" "" "0001017218" "00009133" "90" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Cys)" "" "0001017219" "00009133" "90" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444Lys)" "" "0001017220" "00009133" "90" "209" "1" "209" "1" "c.209+1G>C" "r.spl" "p.?" "4i" "0001017221" "00009133" "90" "354" "5" "354" "5" "c.354+5del" "r.254_354del" "p.Gly86fs" "6i" "0001017277" "00009133" "90" "1136" "0" "1136" "0" "c.1136A>G" "r.(?)" "p.(His379Arg)" "" "0001017278" "00009133" "90" "1061" "243" "1390" "-703" "c.1061+243_1390-703del" "r.?" "p.?" "" "0001017279" "00009133" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0001017280" "00009133" "90" "1154" "0" "1154" "0" "c.1154A>C" "r.(?)" "p.(Gln385Pro)" "14" "0001017287" "00009133" "90" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Thr62Ala)" "" "0001017288" "00009133" "90" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Asn114Asp)" "" "0001017289" "00009133" "90" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Gly163Asp)" "" "0001017290" "00009133" "90" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ala392Val)" "" "0001017293" "00009133" "90" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Ser)" "" "0001017338" "00009133" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Trp)" "" "0001017346" "00009133" "90" "631" "-1" "631" "-1" "c.631-1G>A" "r.spl" "p.?" "" "0001017347" "00009133" "90" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Gln194Ter)" "" "0001017354" "00009133" "90" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ala392Val)" "" "0001017357" "00009133" "90" "-11119" "0" "-9" "3865" "c.-11119_-9+3865del" "r.0?" "p.0?" "_1_1i" "0001017358" "00009133" "90" "1364" "0" "1364" "0" "c.1364T>G" "r.(?)" "p.(Val455Gly)" "" "0001017359" "00009133" "90" "209" "1" "209" "1" "c.209+1G>C" "r.spl" "p.?" "4i" "0001017360" "00009133" "90" "980" "0" "980" "0" "c.980T>C" "r.(?)" "p.(Leu327Pro)" "" "0001017361" "00009133" "90" "1192" "0" "1192" "0" "c.1192T>C" "r.(?)" "p.(Phe398Leu)" "14" "0001017362" "00009133" "90" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Ala141Thr)" "" "0001017363" "00009133" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0001017369" "00009133" "50" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Asn389Asp)" "" "0001017370" "00009133" "90" "693" "0" "693" "0" "c.693del" "r.(?)" "p.(Ala232LeufsTer20)" "" "0001017373" "00009133" "50" "1289" "0" "1289" "0" "c.1289T>C" "r.(?)" "p.(Phe430Ser)" "" "0001017374" "00009133" "70" "881" "0" "881" "0" "c.881C>G" "r.(?)" "p.(Pro294Arg)" "" "0001017375" "00009133" "90" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ala392Val)" "" "0001017635" "00009133" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0001017636" "00009133" "90" "1289" "0" "1289" "0" "c.1289T>C" "r.(?)" "p.(Phe430Ser)" "" "0001017637" "00009133" "90" "1289" "0" "1289" "0" "c.1289T>C" "r.(?)" "p.(Phe430Ser)" "" "0001017638" "00009133" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0001017644" "00009133" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0001017645" "00009133" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0001017646" "00009133" "90" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Phe)" "" "0001017647" "00009133" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0001033228" "00009133" "50" "-43782" "0" "-43782" "0" "c.-43782T>A" "r.(?)" "p.(=)" "" "0001033229" "00009133" "50" "-10645" "0" "-10645" "0" "c.-10645T>C" "r.(?)" "p.(=)" "" "0001045826" "00009133" "30" "64" "11" "64" "11" "c.64+11T>C" "r.(=)" "p.(=)" "" "0001045827" "00009133" "30" "1371" "0" "1371" "0" "c.1371G>A" "r.(?)" "p.(=)" "" "0001050546" "00009133" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0001050547" "00009133" "50" "1115" "0" "1115" "0" "c.1115A>T" "r.(?)" "p.(Asp372Val)" "" "0001050548" "00009133" "30" "1224" "4" "1224" "4" "c.1224+4A>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 111 "{{screeningid}}" "{{variantid}}" "0000025020" "0000047880" "0000081084" "0000130170" "0000293844" "0000650533" "0000429139" "0000908565" "0000459072" "0001016797" "0000459072" "0001016798" "0000459074" "0001016801" "0000459074" "0001016802" "0000459075" "0001016803" "0000459076" "0001016804" "0000459076" "0001016805" "0000459076" "0001016806" "0000459077" "0001016808" "0000459077" "0001016809" "0000459078" "0001016810" "0000459079" "0001016811" "0000459079" "0001016812" "0000459080" "0001016817" "0000459081" "0001016818" "0000459082" "0001016819" "0000459083" "0001016820" "0000459083" "0001016821" "0000459084" "0001016822" "0000459084" "0001016823" "0000459085" "0001016830" "0000459085" "0001016831" "0000459124" "0001016883" "0000459124" "0001016884" "0000459170" "0001016930" "0000459171" "0001016931" "0000459172" "0001016932" "0000459173" "0001016933" "0000459174" "0001016934" "0000459175" "0001016935" "0000459176" "0001016936" "0000459192" "0001017114" "0000459192" "0001017132" "0000459193" "0001017115" "0000459193" "0001017133" "0000459194" "0001017116" "0000459194" "0001017134" "0000459195" "0001017117" "0000459195" "0001017135" "0000459197" "0001017119" "0000459197" "0001017136" "0000459200" "0001017140" "0000459201" "0001017141" "0000459202" "0001017142" "0000459203" "0001017143" "0000459204" "0001017144" "0000459204" "0001017154" "0000459205" "0001017145" "0000459205" "0001017155" "0000459206" "0001017146" "0000459206" "0001017157" "0000459207" "0001017147" "0000459207" "0001017158" "0000459208" "0001017148" "0000459208" "0001017159" "0000459209" "0001017149" "0000459209" "0001017160" "0000459210" "0001017150" "0000459211" "0001017151" "0000459211" "0001017161" "0000459212" "0001017152" "0000459213" "0001017153" "0000459213" "0001017162" "0000459227" "0001017179" "0000459228" "0001017180" "0000459239" "0001017192" "0000459250" "0001017213" "0000459250" "0001017215" "0000459251" "0001017214" "0000459251" "0001017216" "0000459253" "0001017218" "0000459253" "0001017219" "0000459255" "0001017220" "0000459256" "0001017221" "0000459291" "0001017277" "0000459292" "0001017278" "0000459293" "0001017279" "0000459294" "0001017280" "0000459300" "0001017287" "0000459300" "0001017288" "0000459301" "0001017289" "0000459301" "0001017290" "0000459303" "0001017293" "0000459335" "0001017338" "0000459343" "0001017346" "0000459344" "0001017347" "0000459348" "0001017357" "0000459349" "0001017354" "0000459349" "0001017358" "0000459350" "0001017359" "0000459350" "0001017360" "0000459351" "0001017361" "0000459352" "0001017362" "0000459352" "0001017363" "0000459358" "0001017369" "0000459358" "0001017373" "0000459359" "0001017370" "0000459359" "0001017374" "0000459360" "0001017375" "0000459570" "0001017635" "0000459570" "0001017636" "0000459571" "0001017637" "0000459571" "0001017638" "0000459579" "0001017644" "0000459579" "0001017647" "0000459581" "0001017645" "0000459582" "0001017646"