### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCKDHA) # 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}}" "BCKDHA" "branched chain keto acid dehydrogenase E1, alpha polypeptide" "19" "q13.1-q13.2" "unknown" "NG_013004.1" "UD_132085277911" "" "https://www.LOVD.nl/BCKDHA" "" "1" "986" "593" "608348" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/BCKDHA_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2018-10-11 16:29:24" "00006" "2025-08-14 14:48:30" ## 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}}" "00000200" "BCKDHA" "branched chain keto acid dehydrogenase E1, alpha polypeptide, transcript variant 1" "001" "NM_000709.3" "" "NP_000700.1" "" "" "" "-39" "1735" "1338" "41903694" "41930910" "00002" "2012-05-11 13:12:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00057" "MSUD1A" "maple syrup urine disease, type Ia" "AR" "248600" "" "" "" "00006" "2012-09-21 17:10:19" "00006" "2024-05-25 09:39:48" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "07171" "MSUD" "maple syrup urine disease" "" "" "" "" "" "00006" "2025-08-11 18:49:35" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BCKDHA" "00057" "BCKDHA" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 50 "{{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}}" "00000047" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000076" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00181057" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00292137" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292138" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292140" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309859" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M015" "00451630" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-062" "00453612" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat28" "00466222" "" "" "" "2" "" "00006" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "2-generation family, 2 affected sibs, unaffected parents" "" "yes" "Turkey" "" "0" "" "" "" "FamPat1" "00466223" "" "" "" "1" "" "00006" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "2-generation family, 1 affected, unaffected parents" "" "yes" "Turkey" "" "0" "" "" "" "Pat2" "00466224" "" "" "" "1" "" "00006" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "2-generation family, 1 affected, unaffected parents" "" "yes" "Turkey" "" "0" "" "" "" "Pat3" "00466225" "" "" "" "1" "" "00006" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "2-generation family, 1 affected, unaffected parents" "" "" "Turkey" "" "0" "" "" "" "Pat4" "00466226" "" "" "" "1" "" "00006" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "2-generation family, 1 affected, unaffected parents" "" "" "Turkey" "" "0" "" "" "" "Pat5" "00466227" "" "" "" "1" "" "00006" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "2-generation family, 1 affected, unaffected parents" "" "" "Turkey" "" "0" "" "" "" "Pat6" "00466231" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat1" "00466232" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat2" "00466233" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat3" "00466234" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat4" "00466235" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat5" "00466236" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat6" "00466237" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat7" "00466238" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat8" "00466264" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "patient" "M" "yes" "Jordan" "" "0" "" "" "" "Pat1" "00466265" "" "" "" "2" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "multi-generation family, 2 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Jordan" "" "0" "" "" "" "Pat2" "00466266" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "patient" "M" "yes" "Jordan" "1y" "0" "" "" "" "Pat3" "00466267" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Jordan" "" "0" "" "" "Iraq" "Pat4" "00466270" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466271" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466272" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466273" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466277" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466290" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Turkey" "" "0" "" "" "" "msud001" "00466291" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Turkey" "" "0" "" "" "" "msud002" "00466295" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germany" "" "0" "" "" "" "msud006" "00466296" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Spain" "" "0" "" "" "" "msud007" "00466298" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}, {PMID:Flaschker 2007:17922217}" "" "" "" "Turkey" "" "0" "" "" "" "msud009;Pat1" "00466300" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germany" "" "0" "" "" "" "msud011" "00466301" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Turkey" "" "0" "" "" "" "msud013" "00466305" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Italy" "" "0" "" "" "" "msud018" "00466306" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "France" "" "0" "" "" "" "msud019" "00466309" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat6" "00466310" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "yes" "Turkey" "" "0" "" "" "" "Pat16" "00466311" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "yes" "Turkey" "" "0" "" "" "" "Pat32" "00466312" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "yes" "Turkey" "" "0" "" "" "" "Pat7" "00466313" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat3" "00466322" "" "" "" "5" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "control" "00466323" "" "" "" "2" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "control" "00466324" "" "" "" "7" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "control" "00466325" "" "" "" "9" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "control" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 48 "{{individualid}}" "{{diseaseid}}" "00181057" "00057" "00292137" "00198" "00292138" "00198" "00292140" "00198" "00309859" "00057" "00451630" "00057" "00453612" "02554" "00466222" "07171" "00466223" "07171" "00466224" "07171" "00466225" "07171" "00466226" "07171" "00466227" "07171" "00466231" "07171" "00466232" "07171" "00466233" "07171" "00466234" "07171" "00466235" "07171" "00466236" "07171" "00466237" "07171" "00466238" "07171" "00466264" "07171" "00466265" "07171" "00466266" "07171" "00466267" "07171" "00466270" "00000" "00466271" "00000" "00466272" "00000" "00466273" "00000" "00466277" "00000" "00466290" "07171" "00466291" "07171" "00466295" "07171" "00466296" "07171" "00466298" "07171" "00466300" "07171" "00466301" "07171" "00466305" "07171" "00466306" "07171" "00466309" "07171" "00466310" "07171" "00466311" "07171" "00466312" "07171" "00466313" "07171" "00466322" "00000" "00466323" "00000" "00466324" "00000" "00466325" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00057, 00139, 00198, 02554, 07171 ## Count = 36 "{{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}}" "0000143310" "00057" "00181057" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235174" "00057" "00309859" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSUD" "maple syrup urine disease, type 1A" "" "0000340292" "00057" "00451630" "04221" "Familial, autosomal recessive" "" "" "" "00y01m" "" "" "" "" "" "" "Maple syrup urine disease, type Ia" "Maple syrup urine disease" "" "0000342269" "02554" "00453612" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "MSUD1A" "inborn error of metabolism" "" "0000351604" "07171" "00466222" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351605" "07171" "00466223" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351606" "07171" "00466224" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351607" "07171" "00466225" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351608" "07171" "00466226" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351609" "07171" "00466227" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "maple syrup urine disease" "" "0000351614" "07171" "00466231" "00006" "Familial, autosomal recessive" "2y" "severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. At the age of 3 months, hyperammonemia and dilated cardiomyopathy was detected during routine screening. He had history of frequent hospital readmissions for metabolic decompensation from diagnosis till now." "4d" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351615" "07171" "00466232" "00006" "Familial, autosomal recessive" "10.3y" "severe; classic MSUD with rapid deterioration to coma and NICU admission and ventilation for 55 days. He had history of frequent hospital readmission for metabolic decompensation." "7d" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351616" "07171" "00466233" "00006" "Familial, autosomal recessive" "8.3y" "severe; classic MSUD with rapid deterioration and NICU admission. He required no ventilation. He was readmitted to hospital only two times during the first year with metabolic decompensation." "10d" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351617" "07171" "00466234" "00006" "Familial, autosomal recessive" "2.2y" "severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had neurological insult after first crisis with development of seizures. She had repeated hospital readmissions with metabolic decompensation from diagnosis till now." "7d" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351618" "07171" "00466235" "00006" "Familial, autosomal recessive" "4.6y" "classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had two hospital readmissions for metabolic decompensation from diagnosis till now." "5d" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351619" "07171" "00466236" "00006" "Familial, autosomal recessive" "5.7y" "classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had one hospital readmission for severe metabolic crisis at the age 3.0 years which required PICU admission." "10d" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351620" "07171" "00466237" "00006" "Familial, autosomal recessive" "9.3y" "classic MSUD with rapid deterioration at age of 3 days with poor suckling, vomiting, lethargy, irritability. He was diagnosed by Ms/Ms at 30 days of age. He had multiple hospital readmissions for metabolic decompensation from diagnosis till now." "3d" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351621" "07171" "00466238" "00006" "Familial, autosomal recessive" "4.1y" "moderate; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had no history of hospital readmission for metabolic decompensation." "7d" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351647" "07171" "00466264" "00006" "Familial, autosomal recessive" "5y5m" "acute encephalopathy and intractable seizures at presentation, later follow up psychomotor retardation, axial hypotonia, brain atrophy" "" "20d" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351648" "07171" "00466265" "00006" "Familial, autosomal recessive" "3y" "chronic encephalopathy, spasticity, moderate developmental delay" "" "6m" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351649" "07171" "00466266" "00006" "Familial, autosomal recessive" "1y" "1y-deceased; hypoactivity and acute encephalopathy at presentation, later follow up severe developmental delay, and brain atrophy" "" "7d" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351650" "07171" "00466267" "00006" "Familial, autosomal recessive" "5y6m" "mild developmental delay, infrequent partial seizures" "" "1y6m" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351658" "07171" "00466290" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351659" "07171" "00466291" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351663" "07171" "00466295" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351664" "07171" "00466296" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351666" "07171" "00466298" "00006" "Familial, autosomal recessive" "" "variant MSUD" "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351668" "07171" "00466300" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351669" "07171" "00466301" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351673" "07171" "00466305" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351674" "07171" "00466306" "00006" "Familial, autosomal recessive" "" "variant MSUD" "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351677" "07171" "00466309" "00006" "Unknown" "" "severe (intermediate)" "" "" "" "" "" "" "" "" "" "maple syrup urine disease" "" "0000351678" "07171" "00466310" "00006" "Familial, autosomal recessive" "" "severe (intermediate)" "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351679" "07171" "00466311" "00006" "Familial, autosomal recessive" "" "mild (newborn screening, mild course)" "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351680" "07171" "00466312" "00006" "Familial, autosomal recessive" "" "mild (asymptomatic)" "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351681" "07171" "00466313" "00006" "Familial, autosomal recessive" "" "severe (intermediate)" "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 50 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000047" "00000047" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000076" "00000076" "1" "00004" "" "2012-05-11 13:19:02" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000182005" "00181057" "1" "02568" "02568" "2018-09-21 14:28:08" "" "" "SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000293305" "00292137" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293306" "00292138" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293308" "00292140" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311003" "00309859" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453232" "00451630" "1" "04221" "04221" "2024-06-17 18:58:03" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000455224" "00453612" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000467878" "00466222" "1" "00006" "00006" "2025-08-11 20:40:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000467879" "00466223" "1" "00006" "00006" "2025-08-11 20:40:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000467880" "00466224" "1" "00006" "00006" "2025-08-11 20:40:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000467881" "00466225" "1" "00006" "00006" "2025-08-11 20:40:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000467882" "00466226" "1" "00006" "00006" "2025-08-11 20:40:13" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000467883" "00466227" "1" "00006" "00006" "2025-08-11 20:40:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000467887" "00466231" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467888" "00466232" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467889" "00466233" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467890" "00466234" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467891" "00466235" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467892" "00466236" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467893" "00466237" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467894" "00466238" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467920" "00466264" "1" "00006" "00006" "2025-08-13 09:58:04" "" "" "SEQ" "DNA" "" "" "0000467921" "00466265" "1" "00006" "00006" "2025-08-13 09:58:04" "" "" "SEQ" "DNA" "" "" "0000467922" "00466266" "1" "00006" "00006" "2025-08-13 09:58:04" "" "" "SEQ" "DNA" "" "" "0000467923" "00466267" "1" "00006" "00006" "2025-08-13 09:58:04" "" "" "SEQ" "DNA" "" "" "0000467926" "00466270" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467927" "00466271" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467928" "00466272" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467929" "00466273" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467933" "00466277" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467946" "00466290" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467947" "00466291" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467951" "00466295" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467952" "00466296" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467954" "00466298" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467956" "00466300" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467957" "00466301" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467961" "00466305" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467962" "00466306" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467965" "00466309" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467966" "00466310" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467967" "00466311" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467968" "00466312" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467969" "00466313" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467978" "00466322" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467979" "00466323" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467980" "00466324" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467981" "00466325" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{geneid}}" "0000000047" "ATP7B" "0000000047" "BCKDHA" "0000000047" "DPYD" "0000000047" "ETFB" "0000000047" "HEXB" "0000000047" "IGHMBP2" "0000000047" "KMT2A" "0000000047" "MEFV" "0000000047" "MPL" "0000000047" "MYO5A" "0000000047" "NHLRC1" "0000000047" "NPC1" "0000000047" "NPHS1" "0000000047" "SERPINA1" "0000000076" "ATP7B" "0000000076" "BCKDHA" "0000000076" "FKRP" "0000000076" "GAA" "0000000076" "GLB1" "0000000076" "HSD17B4" "0000000076" "IGHMBP2" "0000000076" "MEFV" "0000000076" "NHLRC1" "0000000076" "NPHS1" "0000000076" "PMM2" "0000000076" "POMGNT1" "0000000076" "PPT1" "0000000076" "SERPINA1" "0000000076" "SLC26A2" "0000182005" "BCKDHA" "0000311003" "BCKDHA" "0000453232" "BCKDHA" "0000467878" "BCKDHA" "0000467879" "BCKDHA" "0000467880" "BCKDHA" "0000467881" "BCKDHA" "0000467882" "DBT" "0000467883" "BCKDHA" "0000467887" "BCKDHA" "0000467888" "BCKDHA" "0000467889" "BCKDHA" "0000467890" "BCKDHA" "0000467891" "BCKDHA" "0000467892" "BCKDHA" "0000467893" "BCKDHA" "0000467894" "BCKDHA" "0000467920" "BCKDHA" "0000467921" "BCKDHA" "0000467922" "BCKDHA" "0000467923" "BCKDHA" "0000467926" "BCKDHA" "0000467927" "BCKDHA" "0000467928" "BCKDHA" "0000467929" "BCKDHA" "0000467933" "BCKDHA" ## 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 = 106 "{{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}}" "0000000682" "0" "50" "19" "41928541" "41928548" "del" "0" "00002" "BCKDHA_000001" "g.41928541_41928548del" "" "" "" " chr19:g.46620381_46620388delGAGGCCCC" "" "Germline" "" "" "" "" "" "g.41422636_41422643del" "" "VUS" "" "0000000683" "0" "50" "19" "41920030" "41920030" "subst" "0.00995995" "00002" "BCKDHA_000002" "g.41920030C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41414125C>T" "" "VUS" "" "0000000684" "0" "50" "19" "41930487" "41930487" "subst" "6.56723E-5" "00002" "BCKDHA_000003" "g.41930487T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41424582T>A" "" "VUS" "" "0000247562" "0" "10" "19" "41930396" "41930396" "subst" "0.592782" "02330" "BCKDHA_000021" "g.41930396A>G" "" "" "" "BCKDHA(NM_000709.4):c.1221A>G (p.L407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41424491A>G" "" "benign" "" "0000247567" "0" "10" "19" "41919944" "41919944" "subst" "0.591664" "02330" "BCKDHA_000011" "g.41919944A>C" "" "" "" "BCKDHA(NM_000709.4):c.376-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41414039A>C" "" "benign" "" "0000248388" "0" "10" "19" "41930396" "41930396" "subst" "0.592782" "02325" "BCKDHA_000021" "g.41930396A>G" "" "" "" "BCKDHA(NM_000709.4):c.1221A>G (p.L407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41424491A>G" "" "benign" "" "0000248455" "0" "10" "19" "41919944" "41919944" "subst" "0.591664" "02325" "BCKDHA_000011" "g.41919944A>C" "" "" "" "BCKDHA(NM_000709.4):c.376-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41414039A>C" "" "benign" "" "0000258628" "0" "10" "19" "41916549" "41916549" "subst" "0.0991933" "02330" "BCKDHA_000007" "g.41916549C>A" "" "" "" "BCKDHA(NM_000709.4):c.116C>A (p.P39H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41410644C>A" "" "benign" "" "0000258629" "0" "10" "19" "41903766" "41903766" "subst" "0.0101328" "02330" "BCKDHA_000005" "g.41903766C>A" "" "" "" "BCKDHA(NM_000709.4):c.34C>A (p.R12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41397861C>A" "" "benign" "" "0000258630" "0" "30" "19" "41919950" "41919950" "subst" "0.00364972" "02330" "BCKDHA_000012" "g.41919950C>T" "" "" "" "BCKDHA(NM_000709.4):c.376-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41414045C>T" "" "likely benign" "" "0000258631" "0" "30" "19" "41920030" "41920030" "subst" "0.00995995" "02330" "BCKDHA_000002" "g.41920030C>T" "" "" "" "BCKDHA(NM_000709.4):c.452C>T (p.T151M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41414125C>T" "" "likely benign" "" "0000258632" "0" "30" "19" "41925072" "41925072" "subst" "2.84241E-5" "02330" "BCKDHA_000014" "g.41925072C>T" "" "" "" "BCKDHA(NM_000709.4):c.517C>T (p.L173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41419167C>T" "" "likely benign" "" "0000258633" "0" "50" "19" "41928086" "41928086" "subst" "0.000284954" "02330" "BCKDHA_000016" "g.41928086G>A" "" "" "" "BCKDHA(NM_000709.4):c.664G>A (p.A222T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41422181G>A" "" "VUS" "" "0000258634" "0" "30" "19" "41928130" "41928130" "subst" "0.000914025" "02330" "BCKDHA_000017" "g.41928130C>T" "" "" "" "BCKDHA(NM_000709.3):c.708C>T (p.F236=), BCKDHA(NM_000709.4):c.708C>T (p.F236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41422225C>T" "" "likely benign" "" "0000258635" "0" "10" "19" "41928652" "41928652" "subst" "0.592076" "02330" "BCKDHA_000018" "g.41928652C>T" "" "" "" "BCKDHA(NM_000709.4):c.972C>T (p.F324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41422747C>T" "" "benign" "" "0000258816" "0" "10" "19" "41928652" "41928652" "subst" "0.592076" "02325" "BCKDHA_000018" "g.41928652C>T" "" "" "" "BCKDHA(NM_000709.4):c.972C>T (p.F324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41422747C>T" "" "benign" "" "0000261451" "0" "30" "19" "41916823" "41916823" "subst" "0.000678211" "02326" "BCKDHA_000008" "g.41916823C>T" "" "" "" "BCKDHA(NM_000709.4):c.289-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41410918C>T" "" "likely benign" "" "0000261452" "0" "30" "19" "41920030" "41920030" "subst" "0.00995995" "02326" "BCKDHA_000002" "g.41920030C>T" "" "" "" "BCKDHA(NM_000709.4):c.452C>T (p.T151M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41414125C>T" "" "likely benign" "" "0000263627" "0" "30" "19" "41903747" "41903747" "subst" "0.00103696" "01943" "BCKDHA_000004" "g.41903747C>T" "" "" "" "BCKDHA(NM_000709.3):c.15C>T (p.I5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41397842C>T" "" "likely benign" "" "0000263628" "0" "50" "19" "41916832" "41916832" "subst" "0.000162443" "01943" "BCKDHA_000010" "g.41916832C>T" "" "" "" "BCKDHA(NM_000709.3):c.293C>T (p.P98L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41410927C>T" "" "VUS" "" "0000263629" "0" "30" "19" "41928070" "41928070" "subst" "0.00104447" "01943" "BCKDHA_000015" "g.41928070G>T" "" "" "" "BCKDHA(NM_000709.3):c.648G>T (p.A216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41422165G>T" "" "likely benign" "" "0000263630" "0" "30" "19" "41928130" "41928130" "subst" "0.000914025" "01943" "BCKDHA_000017" "g.41928130C>T" "" "" "" "BCKDHA(NM_000709.3):c.708C>T (p.F236=), BCKDHA(NM_000709.4):c.708C>T (p.F236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41422225C>T" "" "likely benign" "" "0000263631" "0" "30" "19" "41928655" "41928655" "subst" "0.00322849" "01943" "BCKDHA_000019" "g.41928655C>T" "" "" "" "BCKDHA(NM_000709.3):c.975C>T (p.L325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41422750C>T" "" "likely benign" "" "0000326521" "0" "50" "19" "41903787" "41903787" "subst" "1.22215E-5" "01804" "BCKDHA_000006" "g.41903787C>A" "" "" "" "BCKDHA(NM_000709.3):c.55C>A (p.(Gln19Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41397882C>A" "" "VUS" "" "0000326524" "0" "30" "19" "41925041" "41925041" "subst" "0" "01804" "BCKDHA_000013" "g.41925041T>G" "" "" "" "BCKDHA(NM_000709.4):c.486T>G (p.(Gly162=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41419136T>G" "" "likely benign" "" "0000326525" "0" "50" "19" "41929066" "41929066" "subst" "0" "01804" "BCKDHA_000020" "g.41929066C>T" "" "" "" "BCKDHA(NM_000709.3):c.1159C>T (p.(Arg387Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41423161C>T" "" "VUS" "" "0000326526" "0" "50" "19" "41930446" "41930446" "subst" "0" "01804" "BCKDHA_000022" "g.41930446A>G" "" "" "" "BCKDHA(NM_000709.3):c.1271A>G (p.(Gln424Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41424541A>G" "" "VUS" "" "0000326528" "0" "50" "19" "41931741" "41931741" "subst" "8.20304E-6" "01804" "B3GNT8_000002" "g.41931741G>A" "" "" "" "B3GNT8(NM_198540.2):c.943C>T (p.(Arg315Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41425836G>A" "" "VUS" "" "0000326529" "0" "50" "19" "41932547" "41932547" "subst" "0" "01804" "B3GNT8_000003" "g.41932547G>A" "" "" "" "B3GNT8(NM_198540.2):c.137C>T (p.(Thr46Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41426642G>A" "" "VUS" "" "0000342615" "0" "50" "19" "41928627" "41928627" "subst" "2.03198E-5" "02327" "BCKDHA_000023" "g.41928627G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41422722G>A" "" "VUS" "" "0000405813" "11" "90" "19" "41928081" "41928081" "subst" "8.15641E-6" "02568" "BCKDHA_000024" "g.41928081C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41422176C>T" "" "pathogenic" "" "0000405814" "21" "90" "19" "41916541" "41920063" "del" "0" "02568" "BCKDHA_000025" "g.(41903841_41916541)_(41920063_41925039)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000567435" "0" "30" "19" "41916721" "41916721" "subst" "0.000349403" "01943" "BCKDHA_000026" "g.41916721C>T" "" "" "" "BCKDHA(NM_000709.3):c.288C>T (p.H96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41410816C>T" "" "likely benign" "" "0000567436" "0" "50" "19" "41916909" "41916909" "subst" "4.06491E-6" "01943" "BCKDHA_000027" "g.41916909C>T" "" "" "" "BCKDHA(NM_000709.3):c.370C>T (p.R124W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41411004C>T" "" "VUS" "" "0000567437" "0" "50" "19" "41928141" "41928141" "subst" "0" "02327" "BCKDHA_000028" "g.41928141C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41422236C>G" "" "VUS" "" "0000567438" "0" "50" "19" "41928158" "41928158" "subst" "6.49794E-5" "02327" "BCKDHA_000029" "g.41928158G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41422253G>A" "" "VUS" "" "0000567439" "0" "50" "19" "41928167" "41928167" "subst" "4.06101E-6" "01943" "BCKDHA_000030" "g.41928167G>A" "" "" "" "BCKDHA(NM_000709.3):c.745G>A (p.G249S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41422262G>A" "" "VUS" "" "0000567440" "0" "10" "19" "41928262" "41928262" "subst" "0.000280212" "02330" "BCKDHA_000031" "g.41928262C>T" "" "" "" "BCKDHA(NM_000709.4):c.840C>T (p.R280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41422357C>T" "" "benign" "" "0000567441" "0" "50" "19" "41928621" "41928621" "subst" "0" "01943" "BCKDHA_000032" "g.41928621G>A" "" "" "" "BCKDHA(NM_000709.3):c.941G>A (p.R314Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41422716G>A" "" "VUS" "" "0000567442" "0" "50" "19" "41928624" "41928624" "subst" "8.12836E-6" "01943" "BCKDHA_000033" "g.41928624G>A" "" "" "" "BCKDHA(NM_000709.3):c.944G>A (p.R315Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41422719G>A" "" "VUS" "" "0000567444" "0" "50" "19" "41928988" "41928988" "subst" "0.000937153" "01943" "BCKDHA_000034" "g.41928988A>G" "" "" "" "BCKDHA(NM_000709.3):c.1081A>G (p.I361V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41423083A>G" "" "VUS" "" "0000567445" "0" "90" "19" "41930487" "41930487" "subst" "6.56723E-5" "02325" "BCKDHA_000003" "g.41930487T>A" "" "" "" "BCKDHA(NM_000709.4):c.1312T>A (p.Y438N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41424582T>A" "" "pathogenic" "" "0000617632" "0" "30" "19" "41932448" "41932448" "subst" "1.87103E-5" "01943" "BCKDHA_000038" "g.41932448C>T" "" "" "" "B3GNT8(NM_198540.2):c.236G>A (p.R79Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41426543C>T" "" "likely benign" "" "0000624010" "0" "50" "19" "41930367" "41930367" "subst" "9.84446E-5" "01943" "BCKDHA_000037" "g.41930367G>A" "" "" "" "BCKDHA(NM_000709.3):c.1192G>A (p.E398K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41424462G>A" "" "VUS" "" "0000649994" "1" "50" "19" "41916730" "41916730" "subst" "5.2846E-5" "03575" "BCKDHA_000039" "g.41916730C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs398123497}" "Germline" "" "rs398123497" "0" "" "" "g.41410825C>T" "" "VUS" "" "0000649995" "1" "30" "19" "41920030" "41920030" "subst" "0.00995995" "03575" "BCKDHA_000002" "g.41920030C>T" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs34442879}" "Germline" "" "rs34442879" "0" "" "" "g.41414125C>T" "" "likely benign" "" "0000649997" "1" "70" "19" "41928659" "41928659" "subst" "2.85151E-5" "03575" "BCKDHA_000040" "g.41928659G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123515}" "Germline" "" "rs398123515" "0" "" "" "g.41422754G>A" "" "likely pathogenic" "" "0000681418" "0" "70" "19" "41903148" "41903148" "del" "0" "02327" "BCKDHA_000041" "g.41903148del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681419" "0" "50" "19" "41916683" "41916683" "subst" "4.06101E-6" "01943" "BCKDHA_000042" "g.41916683C>T" "" "" "" "BCKDHA(NM_000709.3):c.250C>T (p.R84W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686153" "1" "90" "19" "41930487" "41930487" "subst" "6.56723E-5" "00006" "BCKDHA_000003" "g.41930487T>A" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000692797" "0" "30" "19" "41928604" "41928604" "subst" "9.74793E-5" "01943" "BCKDHA_000043" "g.41928604C>T" "" "" "" "BCKDHA(NM_000709.3):c.924C>T (p.N308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727378" "0" "30" "19" "41916682" "41916682" "subst" "8.12203E-6" "01943" "BCKDHA_000044" "g.41916682C>T" "" "" "" "BCKDHA(NM_000709.3):c.249C>T (p.D83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727379" "0" "30" "19" "41916875" "41916875" "subst" "0.000125909" "02330" "BCKDHA_000045" "g.41916875T>G" "" "" "" "BCKDHA(NM_000709.4):c.336T>G (p.L112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727380" "0" "90" "19" "41928532" "41928532" "subst" "1.21906E-5" "01943" "BCKDHA_000046" "g.41928532A>G" "" "" "" "BCKDHA(NM_000709.3):c.854-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727381" "0" "50" "19" "41928907" "41928907" "subst" "0" "01943" "BCKDHA_000047" "g.41928907G>A" "" "" "" "BCKDHA(NM_000709.3):c.1000G>A (p.G334R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895010" "0" "30" "19" "41928130" "41928130" "subst" "0.000914025" "02326" "BCKDHA_000017" "g.41928130C>T" "" "" "" "BCKDHA(NM_000709.3):c.708C>T (p.F236=), BCKDHA(NM_000709.4):c.708C>T (p.F236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983476" "0" "50" "19" "41916609" "41916609" "subst" "9.33957E-5" "01804" "BCKDHA_000048" "g.41916609C>T" "" "" "" "BCKDHA(NM_000709.4):c.176C>T (p.(Ala59Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987769" "1" "70" "19" "41928570" "41928570" "subst" "7.71649E-5" "04221" "BCKDHA_000049" "g.41928570G>A" "" "" "" "" "Zeynalzadeh 2018:29306928, Cheng 2017:28830848, Frazier 2014:24881969" "Germline" "yes" "rs200137189" "0" "" "" "g.41422665G>A" "{CV:93376}" "likely pathogenic (recessive)" "ACMG" "0000987770" "2" "90" "19" "41930367" "41930367" "subst" "0" "04221" "BCKDHA_000050" "g.41930367G>T" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020)." "Germline" "yes" "rs201168715" "" "" "" "g.41424462G>T" "{CV:553717}" "pathogenic (recessive)" "ACMG" "0001007257" "1" "70" "19" "41928081" "41928081" "subst" "8.15641E-6" "00006" "BCKDHA_000024" "g.41928081C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.41422176C>T" "" "likely pathogenic" "" "0001007380" "2" "70" "19" "41916541" "41920063" "del" "0" "00006" "BCKDHA_000025" "g.(41903841_41916541)_(41920063_41925039)del" "" "{PMID:Navarrete 2019:30626930}" "" "r.109-?_484+?" "" "Germline" "" "" "0" "" "" "g.(41397936_41410636)_(41414158_41419134)del" "" "likely pathogenic" "" "0001042982" "0" "50" "19" "41898789" "41898789" "subst" "0" "01804" "BCKDHA_000051" "g.41898789G>A" "" "" "" "EXOSC5(NM_020158.4):c.245C>T (p.(Pro82Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042983" "0" "50" "19" "41916679" "41916679" "subst" "6.09142E-5" "01804" "BCKDHA_000052" "g.41916679G>A" "" "" "" "BCKDHA(NM_000709.4):c.246G>A (p.(Met82Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047281" "3" "90" "19" "41928195" "41928195" "subst" "0" "00006" "BCKDHA_000062" "g.41928195G>A" "" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "" "(C213Y)" "" "Germline" "" "rs2122143379" "0" "" "" "g.41422290G>A" "" "pathogenic (recessive)" "" "0001047282" "3" "90" "19" "41928195" "41928195" "subst" "0" "00006" "BCKDHA_000062" "g.41928195G>A" "" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "" "(C213Y)" "" "Germline" "" "rs2122143379" "0" "" "" "g.41422290G>A" "" "pathogenic (recessive)" "" "0001047283" "3" "90" "19" "41928195" "41928195" "subst" "0" "00006" "BCKDHA_000062" "g.41928195G>A" "" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "" "(C213Y)" "" "Germline" "" "rs2122143379" "0" "" "" "g.41422290G>A" "" "pathogenic (recessive)" "" "0001047284" "3" "90" "19" "41916912" "41916912" "subst" "0" "00006" "BCKDHA_000057" "g.41916912C>G" "" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "" "(Q125E)" "" "Germline" "" "" "0" "" "" "g.41411007C>G" "" "pathogenic (recessive)" "" "0001047286" "21" "50" "19" "41920030" "41920030" "subst" "0.00995995" "00006" "BCKDHA_000002" "g.41920030C>T" "" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "" "(T106M)" "" "Germline" "" "" "0" "" "" "g.41414125C>T" "" "VUS" "" "0001047287" "3" "10" "19" "41928652" "41928652" "subst" "0.592076" "00006" "BCKDHA_000018" "g.41928652C>T" "" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "" "(F280F)" "" "Germline" "" "" "0" "" "" "g.41422747C>T" "" "benign" "" "0001047297" "3" "90" "19" "41925067" "41925067" "del" "0" "00006" "BCKDHA_000059" "g.41925067del" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "512_512delT" "" "Germline" "" "" "0" "" "" "g.41419162del" "" "pathogenic (recessive)" "" "0001047298" "3" "90" "19" "41928627" "41928636" "del" "0" "00006" "BCKDHA_000067" "g.41928627_41928636del" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "947_956delGGGCTGTGGC" "" "Germline" "" "" "0" "" "" "g.41422722_41422731del" "" "pathogenic (recessive)" "" "0001047299" "3" "90" "19" "41928541" "41928548" "del" "0" "00006" "BCKDHA_000001" "g.41928541_41928548del" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "859_866delCGAGGCCC" "" "Germline" "" "" "0" "" "" "g.41422636_41422643del" "" "pathogenic (recessive)" "" "0001047300" "3" "90" "19" "41930487" "41930487" "subst" "6.56723E-5" "00006" "BCKDHA_000003" "g.41930487T>A" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs137852870" "0" "" "" "g.41424582T>A" "" "pathogenic (recessive)" "" "0001047301" "3" "90" "19" "41930487" "41930487" "subst" "6.56723E-5" "00006" "BCKDHA_000003" "g.41930487T>A" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs137852870" "0" "" "" "g.41424582T>A" "" "pathogenic (recessive)" "" "0001047302" "3" "90" "19" "41930487" "41930487" "subst" "6.56723E-5" "00006" "BCKDHA_000003" "g.41930487T>A" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs137852870" "0" "" "" "g.41424582T>A" "" "pathogenic (recessive)" "" "0001047303" "3" "90" "19" "41930487" "41930487" "subst" "6.56723E-5" "00006" "BCKDHA_000003" "g.41930487T>A" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs137852870" "0" "" "" "g.41424582T>A" "" "pathogenic (recessive)" "" "0001047304" "3" "90" "19" "41928539" "41928539" "subst" "4.0626E-6" "00006" "BCKDHA_000065" "g.41928539C>T" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs764247545" "0" "" "" "g.41422634C>T" "" "pathogenic (recessive)" "" "0001047330" "3" "90" "19" "41930426" "41930426" "del" "0" "00006" "BCKDHA_000071" "g.41930426del" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "1251delC" "" "Germline" "" "" "0" "" "" "g.41424521del" "" "pathogenic (recessive)" "" "0001047331" "3" "90" "19" "41928068" "41928068" "subst" "4.10314E-6" "00006" "BCKDHA_000060" "g.41928068G>C" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.41422163G>C" "" "pathogenic (recessive)" "" "0001047332" "3" "90" "19" "41928589" "41928590" "del" "0" "00006" "BCKDHA_000066" "g.41928589_41928590del" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "908_909delTG" "" "Germline" "" "" "0" "" "" "g.41422684_41422685del" "" "pathogenic (recessive)" "" "0001047333" "3" "90" "19" "41928570" "41928570" "subst" "7.71649E-5" "00006" "BCKDHA_000049" "g.41928570G>A" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.41422665G>A" "" "pathogenic (recessive)" "" "0001047336" "3" "10" "19" "41928701" "41928701" "subst" "0.375324" "00006" "BCKDHA_000053" "g.41928701C>T" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs284653" "0" "" "" "g.41422796C>T" "" "benign" "" "0001047341" "0" "10" "19" "41903699" "41903699" "subst" "0.115498" "00006" "BCKDHA_000055" "g.41903699T>G" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs45500792" "0" "" "" "g.41397794T>G" "" "benign" "" "0001047342" "0" "10" "19" "41916547" "41916547" "subst" "0.00918825" "00006" "BCKDHA_000056" "g.41916547C>T" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs11549935" "0" "" "" "g.41410642C>T" "" "benign" "" "0001047343" "0" "10" "19" "41920030" "41920030" "subst" "0.00995995" "00006" "BCKDHA_000002" "g.41920030C>T" "1/50 controls" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs34442879" "0" "" "" "g.41414125C>T" "" "benign" "" "0001047344" "0" "10" "19" "41928336" "41928336" "subst" "0" "00006" "BCKDHA_000064" "g.41928336T>C" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs284651" "0" "" "" "g.41422431T>C" "" "benign" "" "0001047348" "0" "10" "19" "41928885" "41928885" "subst" "0.000501146" "00006" "BCKDHA_000069" "g.41928885C>T" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs201511678" "0" "" "" "g.41422980C>T" "" "benign" "" "0001047365" "3" "90" "19" "41928539" "41928539" "subst" "4.0626E-6" "00006" "BCKDHA_000065" "g.41928539C>T" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity 0.03" "Germline" "" "" "0" "" "" "g.41422634C>T" "" "pathogenic (recessive)" "" "0001047370" "3" "30" "19" "41920030" "41920030" "subst" "0.00995995" "00006" "BCKDHA_000002" "g.41920030C>T" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germline" "" "" "0" "" "" "g.41414125C>T" "" "likely benign" "" "0001047373" "3" "90" "19" "41928548" "41928548" "subst" "1.21877E-5" "00006" "BCKDHA_000054" "g.41928548G>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}, {PMID:Flaschker 2007:17922217}" "" "" "" "Germline" "" "" "0" "" "" "g.41422643G>A" "" "pathogenic (recessive)" "" "0001047375" "3" "90" "19" "41930487" "41930487" "subst" "6.56723E-5" "00006" "BCKDHA_000003" "g.41930487T>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germline" "" "" "0" "" "" "g.41424582T>A" "" "pathogenic (recessive)" "" "0001047380" "3" "90" "19" "41928275" "41928275" "subst" "3.24923E-5" "00006" "BCKDHA_000063" "g.41928275G>C" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity <0.01" "Germline" "" "" "0" "" "" "g.41422370G>C" "" "pathogenic (recessive)" "" "0001047384" "0" "10" "19" "41916549" "41916549" "subst" "0.0991933" "00006" "BCKDHA_000007" "g.41916549C>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germline" "" "" "0" "" "" "g.41410644C>A" "" "benign" "" "0001047386" "3" "90" "19" "41930409" "41930409" "subst" "0" "00006" "BCKDHA_000070" "g.41930409G>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germline" "" "" "0" "" "" "g.41424504G>A" "" "pathogenic (recessive)" "" "0001047389" "0" "10" "19" "41916549" "41916549" "subst" "0.0991933" "00006" "BCKDHA_000007" "g.41916549C>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity <0.05" "Germline" "" "" "0" "" "" "g.41410644C>A" "" "benign" "" "0001047392" "0" "30" "19" "41920030" "41920030" "subst" "0.00995995" "00006" "BCKDHA_000002" "g.41920030C>T" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity <0.01" "Germline" "" "" "0" "" "" "g.41414125C>T" "" "likely benign" "" "0001047395" "0" "10" "19" "41916549" "41916549" "subst" "0.0991933" "00006" "BCKDHA_000007" "g.41916549C>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity 0.65" "Germline" "" "" "0" "" "" "g.41410644C>A" "" "benign" "" "0001047396" "1" "90" "19" "41920053" "41920053" "subst" "4.07644E-6" "00006" "BCKDHA_000058" "g.41920053C>T" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.41414148C>T" "" "pathogenic (recessive)" "" "0001047397" "3" "90" "19" "41928179" "41928179" "subst" "0" "00006" "BCKDHA_000061" "g.41928179G>A" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.41422274G>A" "" "pathogenic (recessive)" "" "0001047398" "3" "90" "19" "41928570" "41928570" "subst" "7.71649E-5" "00006" "BCKDHA_000049" "g.41928570G>A" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "919G>A (Arg297His)" "" "Germline" "" "" "0" "" "" "g.41422665G>A" "" "pathogenic (recessive)" "" "0001047399" "3" "90" "19" "41928662" "41928662" "subst" "0" "00006" "BCKDHA_000068" "g.41928662G>A" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.41422757G>A" "" "pathogenic (recessive)" "" "0001047400" "3" "90" "19" "41930409" "41930409" "subst" "0" "00006" "BCKDHA_000070" "g.41930409G>A" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.41424504G>A" "" "pathogenic (recessive)" "" "0001047409" "0" "10" "19" "41916549" "41916549" "subst" "0.0991933" "00006" "BCKDHA_000007" "g.41916549C>A" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "87C>A (Pro39His)" "" "Germline" "" "rs34589432" "0" "" "" "g.41410644C>A" "" "benign" "" "0001047410" "0" "10" "19" "41903766" "41903766" "subst" "0.0101328" "00006" "BCKDHA_000005" "g.41903766C>A" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "rs34541442" "0" "" "" "g.41397861C>A" "" "benign" "" "0001047411" "0" "10" "19" "41928652" "41928652" "subst" "0.592076" "00006" "BCKDHA_000018" "g.41928652C>T" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "rs284652" "0" "" "" "g.41422747C>T" "" "benign" "" "0001047412" "0" "10" "19" "41930396" "41930396" "subst" "0.592782" "00006" "BCKDHA_000021" "g.41930396A>G" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "1222A>G (Leu407Leu)" "" "Germline" "" "rs4647" "0" "" "" "g.41424491A>G" "" "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 BCKDHA ## Count = 106 "{{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}}" "0000000682" "00000200" "50" "861" "0" "868" "0" "c.861_868del" "r.(?)" "p.(Gly288Valfs*11)" "" "0000000683" "00000200" "50" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Met)" "" "0000000684" "00000200" "50" "1312" "0" "1312" "0" "c.1312T>A" "r.(?)" "p.(Tyr438Asn)" "" "0000247562" "00000200" "10" "1221" "0" "1221" "0" "c.1221A>G" "r.(?)" "p.(Leu407=)" "" "0000247567" "00000200" "10" "376" "-10" "376" "-10" "c.376-10A>C" "r.(=)" "p.(=)" "" "0000248388" "00000200" "10" "1221" "0" "1221" "0" "c.1221A>G" "r.(?)" "p.(Leu407=)" "" "0000248455" "00000200" "10" "376" "-10" "376" "-10" "c.376-10A>C" "r.(=)" "p.(=)" "" "0000258628" "00000200" "10" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Pro39His)" "" "0000258629" "00000200" "10" "34" "0" "34" "0" "c.34C>A" "r.(?)" "p.(Arg12=)" "" "0000258630" "00000200" "30" "376" "-4" "376" "-4" "c.376-4C>T" "r.spl?" "p.?" "" "0000258631" "00000200" "30" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Met)" "" "0000258632" "00000200" "30" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Leu173=)" "" "0000258633" "00000200" "50" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Ala222Thr)" "" "0000258634" "00000200" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Phe236=)" "" "0000258635" "00000200" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Phe324=)" "" "0000258816" "00000200" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Phe324=)" "" "0000261451" "00000200" "30" "289" "-5" "289" "-5" "c.289-5C>T" "r.spl?" "p.?" "" "0000261452" "00000200" "30" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Met)" "" "0000263627" "00000200" "30" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Ile5=)" "" "0000263628" "00000200" "50" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "" "0000263629" "00000200" "30" "648" "0" "648" "0" "c.648G>T" "r.(?)" "p.(Ala216=)" "" "0000263630" "00000200" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Phe236=)" "" "0000263631" "00000200" "30" "975" "0" "975" "0" "c.975C>T" "r.(?)" "p.(Leu325=)" "" "0000326521" "00000200" "50" "55" "0" "55" "0" "c.55C>A" "r.(?)" "p.(Gln19Lys)" "" "0000326524" "00000200" "30" "486" "0" "486" "0" "c.486T>G" "r.(?)" "p.(Gly162=)" "" "0000326525" "00000200" "50" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387Cys)" "" "0000326526" "00000200" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Gln424Arg)" "" "0000326528" "00000200" "50" "2566" "0" "2566" "0" "c.*1228G>A" "r.(=)" "p.(=)" "" "0000326529" "00000200" "50" "3372" "0" "3372" "0" "c.*2034G>A" "r.(=)" "p.(=)" "" "0000342615" "00000200" "50" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Arg316Gln)" "" "0000405813" "00000200" "90" "659" "0" "659" "0" "c.659C>T" "r.(?)" "p.(Ala220Val)" "" "0000405814" "00000200" "90" "109" "-1" "484" "1" "c.(108+1_109-1)_(484+1_485-1)del" "r.?" "p.(His37Valfs*3)" "1i_4i" "0000567435" "00000200" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(His96=)" "" "0000567436" "00000200" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Trp)" "" "0000567437" "00000200" "50" "719" "0" "719" "0" "c.719C>G" "r.(?)" "p.(Ala240Gly)" "" "0000567438" "00000200" "50" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Ala246Thr)" "" "0000567439" "00000200" "50" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Gly249Ser)" "" "0000567440" "00000200" "10" "840" "0" "840" "0" "c.840C>T" "r.(?)" "p.(Arg280=)" "" "0000567441" "00000200" "50" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314Gln)" "" "0000567442" "00000200" "50" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315Gln)" "" "0000567444" "00000200" "50" "1081" "0" "1081" "0" "c.1081A>G" "r.(?)" "p.(Ile361Val)" "" "0000567445" "00000200" "90" "1312" "0" "1312" "0" "c.1312T>A" "r.(?)" "p.(Tyr438Asn)" "" "0000617632" "00000200" "30" "3273" "0" "3273" "0" "c.*1935C>T" "r.(=)" "p.(=)" "" "0000624010" "00000200" "50" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Glu398Lys)" "" "0000649994" "00000200" "50" "288" "9" "288" "9" "c.288+9C>T" "r.(=)" "p.(=)" "" "0000649995" "00000200" "30" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Met)" "" "0000649997" "00000200" "70" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Glu327Lys)" "" "0000681418" "00000200" "70" "-585" "0" "-585" "0" "c.-585del" "r.(?)" "p.(=)" "" "0000681419" "00000200" "50" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Trp)" "" "0000686153" "00000200" "90" "1312" "0" "1312" "0" "c.1312T>A" "r.(?)" "p.(Tyr438Asn)" "" "0000692797" "00000200" "30" "924" "0" "924" "0" "c.924C>T" "r.(?)" "p.(Asn308=)" "" "0000727378" "00000200" "30" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Asp83=)" "" "0000727379" "00000200" "30" "336" "0" "336" "0" "c.336T>G" "r.(?)" "p.(Leu112=)" "" "0000727380" "00000200" "90" "854" "-2" "854" "-2" "c.854-2A>G" "r.spl?" "p.?" "" "0000727381" "00000200" "50" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Gly334Arg)" "" "0000895010" "00000200" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Phe236=)" "" "0000983476" "00000200" "50" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Ala59Val)" "" "0000987769" "00000200" "70" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "7" "0000987770" "00000200" "90" "1192" "0" "1192" "0" "c.1192G>T" "r.(?)" "p.(Glu398*)" "9" "0001007257" "00000200" "70" "659" "0" "659" "0" "c.659C>T" "r.(?)" "p.(Ala220Val)" "" "0001007380" "00000200" "70" "109" "-1" "484" "1" "c.(108+1_109-1)_(484+1_485-1)del" "r.(109_484) del" "p.(His37ValfsTer3)" "" "0001042982" "00000200" "50" "-4944" "0" "-4944" "0" "c.-4944G>A" "r.(?)" "p.(=)" "" "0001042983" "00000200" "50" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Met82Ile)" "" "0001047281" "00000200" "90" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Cys258Tyr)" "" "0001047282" "00000200" "90" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Cys258Tyr)" "" "0001047283" "00000200" "90" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Cys258Tyr)" "" "0001047284" "00000200" "90" "373" "0" "373" "0" "c.373C>G" "r.(?)" "p.(Gln125Glu)" "" "0001047286" "00000200" "50" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Met)" "" "0001047287" "00000200" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Phe324=)" "" "0001047297" "00000200" "90" "512" "0" "512" "0" "c.512_512del" "r.(?)" "p.(Leu171ArgfsTer159)" "5" "0001047298" "00000200" "90" "947" "0" "956" "0" "c.947_956del" "r.(?)" "p.(Arg316GlnfsTer11)" "7" "0001047299" "00000200" "90" "861" "0" "868" "0" "c.861_868del" "r.(?)" "p.(Gly288ValfsTer11)" "7" "0001047300" "00000200" "90" "1312" "0" "1312" "0" "c.1312T>A" "r.(?)" "p.(Tyr438Asn)" "9" "0001047301" "00000200" "90" "1312" "0" "1312" "0" "c.1312T>A" "r.(?)" "p.(Tyr438Asn)" "9" "0001047302" "00000200" "90" "1312" "0" "1312" "0" "c.1312T>A" "r.(?)" "p.(Tyr438Asn)" "9" "0001047303" "00000200" "90" "1312" "0" "1312" "0" "c.1312T>A" "r.(?)" "p.(Tyr438Asn)" "9" "0001047304" "00000200" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Ter)" "7" "0001047330" "00000200" "90" "1251" "0" "1251" "0" "c.1251del" "r.(?)" "p.(Ala418ProfsTer67)" "9" "0001047331" "00000200" "90" "647" "-1" "647" "-1" "c.647-1G>C" "r.spl" "p.?" "5i" "0001047332" "00000200" "90" "909" "0" "910" "0" "c.909_910del" "r.(?)" "p.(Phe304CysfsTer36)" "7" "0001047333" "00000200" "90" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "7" "0001047336" "00000200" "10" "995" "26" "995" "26" "c.995+26C>T" "r.(?)" "p.(=)" "7i" "0001047341" "00000200" "10" "-34" "0" "-34" "0" "c.-34T>G" "r.(?)" "p.(=)" "" "0001047342" "00000200" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Pro38=)" "" "0001047343" "00000200" "10" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Met)" "" "0001047344" "00000200" "10" "853" "61" "853" "61" "c.853+61T>C" "r.(?)" "p.(=)" "" "0001047348" "00000200" "10" "996" "-18" "996" "-18" "c.996-18C>T" "r.(?)" "p.(=)" "" "0001047365" "00000200" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Ter)" "7" "0001047370" "00000200" "30" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Met)" "4" "0001047373" "00000200" "90" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "7" "0001047375" "00000200" "90" "1312" "0" "1312" "0" "c.1312T>A" "r.(?)" "p.(Tyr438Asn)" "9" "0001047380" "00000200" "90" "853" "0" "853" "0" "c.853G>C" "r.(?)" "p.(Ala285Pro)" "6" "0001047384" "00000200" "10" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Pro39His)" "2" "0001047386" "00000200" "90" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Val412Met)" "9" "0001047389" "00000200" "10" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Pro39His)" "2" "0001047392" "00000200" "30" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Met)" "4" "0001047395" "00000200" "10" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Pro39His)" "2" "0001047396" "00000200" "90" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Trp)" "4" "0001047397" "00000200" "90" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Ala253Thr)" "6" "0001047398" "00000200" "90" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "7" "0001047399" "00000200" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Ala328Thr)" "7" "0001047400" "00000200" "90" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Val412Met)" "9" "0001047409" "00000200" "10" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Pro39His)" "" "0001047410" "00000200" "10" "34" "0" "34" "0" "c.34C>A" "r.(?)" "p.(Arg12=)" "" "0001047411" "00000200" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Phe324=)" "" "0001047412" "00000200" "10" "1221" "0" "1221" "0" "c.1221A>G" "Leu407" "p.(Leu407=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000000047" "0000000682" "0000000047" "0000000684" "0000000076" "0000000683" "0000182005" "0000405813" "0000182005" "0000405814" "0000293305" "0000649994" "0000293306" "0000649995" "0000293308" "0000649997" "0000311003" "0000686153" "0000453232" "0000987769" "0000453232" "0000987770" "0000455224" "0001007257" "0000455224" "0001007380" "0000467878" "0001047281" "0000467879" "0001047282" "0000467880" "0001047283" "0000467881" "0001047284" "0000467882" "0001047286" "0000467883" "0001047287" "0000467887" "0001047297" "0000467888" "0001047298" "0000467889" "0001047299" "0000467890" "0001047300" "0000467891" "0001047301" "0000467892" "0001047302" "0000467893" "0001047303" "0000467894" "0001047304" "0000467920" "0001047330" "0000467921" "0001047331" "0000467922" "0001047332" "0000467923" "0001047333" "0000467923" "0001047336" "0000467926" "0001047341" "0000467927" "0001047342" "0000467928" "0001047343" "0000467929" "0001047344" "0000467933" "0001047348" "0000467946" "0001047365" "0000467947" "0001047384" "0000467951" "0001047370" "0000467951" "0001047386" "0000467952" "0001047389" "0000467954" "0001047373" "0000467956" "0001047375" "0000467957" "0001047392" "0000467961" "0001047380" "0000467962" "0001047395" "0000467965" "0001047396" "0000467966" "0001047397" "0000467967" "0001047398" "0000467968" "0001047399" "0000467969" "0001047400" "0000467978" "0001047409" "0000467979" "0001047410" "0000467980" "0001047411" "0000467981" "0001047412"