### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCKDHB) # 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}}" "BCKDHB" "branched chain keto acid dehydrogenase E1, beta polypeptide" "6" "q14.1" "unknown" "NC_000006.11" "UD_132118995300" "" "https://www.LOVD.nl/BCKDHB" "" "1" "987" "594" "248611" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/BCKDHB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-25 09:37:47" "00006" "2025-08-14 14:48:30" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003315" "BCKDHB" "transcript variant 2" "002" "NM_000056.3" "" "NP_000047.1" "" "" "" "-67" "1483" "1179" "80816344" "81055987" "" "0000-00-00 00:00:00" "" "" "00025929" "BCKDHB" "transcript variant 1" "001" "NM_183050.2" "" "NP_898871.1" "" "" "" "-67" "3645" "1179" "80816344" "81055987" "00006" "2024-05-25 09:36:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "07083" "MSUD1B" "maple syrup urine disease, type Ib" "AR" "620698" "" "" "" "00006" "2024-05-25 09:41:09" "" "" "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}}" "BCKDHB" "00139" "BCKDHB" "07083" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{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}}" "00294210" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294211" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294212" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295349" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296610" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "F" "" "United Kingdom (Great Britain)" "<01m" "0" "" "" "British" "Pat43" "00386504" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "" "00438292" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat10" "00446898" "" "" "" "1" "" "04619" "" "" "M" "yes" "Egypt" "" "0" "" "MSUD formula" "Egyptian" "" "00450321" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Parents with consanguinity and consanguinity (not molecularly tested)" "F" "yes" "Mexico" "" "" "" "" "Mexican" "3bINP-004" "00450471" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Likely consanguinity" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-013" "00451365" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (brother affected: died at 04m)" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-020" "00451632" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (sister affected: died at 07m)" "M" "yes" "Mexico" "" "" "" "" "Mexican" "3bINP-066" "00451640" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-077" "00451644" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Parents with inbreeding and consanguinity (not molecularly tested)" "F" "yes" "Mexico" "" "" "" "" "Mexican" "3bINP-080" "00466239" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat9" "00466240" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat10" "00466241" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat11" "00466242" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat12" "00466243" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat13" "00466244" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat14" "00466245" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat15" "00466246" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat16" "00466247" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat17" "00466248" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat18" "00466249" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat19" "00466250" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat20" "00466251" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat21" "00466252" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat22" "00466268" "" "" "" "2" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "2-generation family, affected (sister/brother), unaffected heterozygous carrier parents" "F" "yes" "Jordan" "" "0" "" "" "" "Pat5" "00466278" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466279" "" "" "" "34" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466280" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466281" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466282" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466283" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466284" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466286" "" "" "" "1" "" "00006" "{PMID:Jaafar 2013:23313820}, {DOI:Jaafar 2013:10.1016/j.gene.2012.12.097}" "2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents" "F" "yes" "Tunisia" "30d" "0" "" "" "" "Pat1" "00466287" "" "" "" "1" "" "00006" "{PMID:Jaafar 2013:23313820}, {DOI:Jaafar 2013:10.1016/j.gene.2012.12.097}" "2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents" "M" "yes" "Tunisia" "" "0" "" "" "" "Pat2" "00466291" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Turkey" "" "0" "" "" "" "msud002" "00466292" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Italy" "" "0" "" "" "" "msud003" "00466296" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Spain" "" "0" "" "" "" "msud007" "00466297" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}, {PMID:Flaschker 2007:17922217}" "" "" "" "Austria" "" "0" "" "" "" "msud008;Pat10" "00466299" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Turkey" "" "0" "" "" "" "msud010" "00466301" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Turkey" "" "0" "" "" "" "msud013" "00466302" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germany" "" "0" "" "" "" "msud014" "00466303" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germany" "" "0" "" "" "" "msud016" "00466304" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Turkey" "" "0" "" "" "" "msud017" "00466307" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Turkey" "" "0" "" "" "" "msud012" "00466308" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germany" "" "0" "" "" "" "msud015" "00466314" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat31" "00466315" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat4" "00466316" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat12" "00466317" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat11" "00466318" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat5" "00466319" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 55 "{{individualid}}" "{{diseaseid}}" "00294210" "00198" "00294211" "00198" "00294212" "00198" "00295349" "00198" "00296610" "00198" "00386504" "00198" "00438292" "04270" "00446898" "00057" "00450321" "00057" "00450471" "07083" "00451365" "07083" "00451632" "07083" "00451640" "07083" "00451644" "07083" "00466239" "07171" "00466240" "07171" "00466241" "07171" "00466242" "07171" "00466243" "07171" "00466244" "07171" "00466245" "07171" "00466246" "07171" "00466247" "07171" "00466248" "07171" "00466249" "07171" "00466250" "07171" "00466251" "07171" "00466252" "07171" "00466268" "07171" "00466278" "00000" "00466279" "00000" "00466280" "00000" "00466281" "00000" "00466282" "00000" "00466283" "00000" "00466284" "00000" "00466286" "07171" "00466287" "07171" "00466291" "07171" "00466292" "07171" "00466296" "07171" "00466297" "07171" "00466299" "07171" "00466301" "07171" "00466302" "07171" "00466303" "07171" "00466304" "07171" "00466307" "07171" "00466308" "07171" "00466314" "07171" "00466315" "07171" "00466316" "07171" "00466317" "07171" "00466318" "07171" "00466319" "07171" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00057, 00139, 00198, 04270, 07083, 07171 ## Count = 44 "{{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}}" "0000224016" "00198" "00296610" "00006" "Unknown" "<1m" "deceased; muscle affected; central nervous system not affected; heart not affected; liver not affected; congenital lactic acidosis, mtDNA depletion" "1d" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000280310" "00198" "00386504" "00006" "Unknown" "" "ketosis; lactic acidosis; elevated leucine-isoleucine-valine (metabolic)" "" "" "" "" "" "" "" "" "" "" "" "0000328196" "04270" "00438292" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0001998 neonatal hypoglycemia" "25d" "" "" "" "" "" "" "" "" "epilepsy" "" "0000337124" "00057" "00446898" "04619" "Familial, autosomal recessive" "00y00m08d" "progressive encephalopathy since day 5 after birth with poor suckling, vomiting, irritability and consequently lethargy so admitted in NICU when he was 8 days old. He developed convulsions with respiratory distress therefore, underwent mechanically ventilation and antibiotic regimen for presumptive neonatal sepsis but without improvement. Initial biochemical investigations showed metabolic acidosis and a mild elevated ammonia. Further biochemical analysis of expanded metabolic screening of amino acids and acylcarnitines at 18 days of age revealed marked elevated BCAAs in blood and nonspecific elevation of 4-OH phenyl lactate and 4-OH phenyl pyruvate on urine organic acid analysis by GC-MS" "00y00m05d" "00y00m18d" "" "" "" "" "" "" "MUSD" "marked elevation of leucine/isoleucine 3590µmol/l and also show significant elevation on several occasions of metabolic stress" "" "0000339382" "00057" "00450321" "04221" "Familial, autosomal recessive" "00y01m" "Microcephaly, intellectual disability, inappropriate laughter, optic nerve atrophy, atrial septal defect, congenital hip dysplasia" "" "00y01m" "" "" "" "" "" "" "Maple syrup urine disease, type Ib" "Maple syrup urine disease" "" "0000339531" "07083" "00450471" "04221" "Familial, autosomal recessive" "00y03m" "" "" "00y03m" "" "" "" "" "" "" "Maple syrup urine disease, type Ib" "Maple syrup urine disease" "" "0000340121" "07083" "00451365" "04221" "Familial, autosomal recessive" "08a07m" "Moderate intellectual disability, distal lower limb hypertrophy" "09y09m" "09y01m" "" "" "" "" "" "" "Maple syrup urine disease, type Ib" "Maple syrup urine disease" "" "0000340294" "07083" "00451632" "04221" "Familial, autosomal recessive" "" "Mild intellectual disability, scoliosis, clubfoot" "00y00m01d" "00y00m12d" "" "" "" "" "" "" "Maple syrup urine disease, type Ib" "Maple syrup urine disease" "" "0000340301" "07083" "00451640" "04221" "Familial, autosomal recessive" "" "Mild intellectual disability" "" "00y01m" "" "" "" "" "" "" "Maple syrup urine disease, type Ib" "Maple syrup urine disease" "" "0000340305" "07083" "00451644" "04221" "Familial, autosomal recessive" "" "Severe intellectual disability, Seizures, Spasticity, Congenital hip dislocation." "" "00y01m" "" "" "" "" "" "" "Maple syrup urine disease, type Ib" "Maple syrup urine disease" "" "0000351622" "07171" "00466239" "00006" "Familial, autosomal recessive" "8.3y" "moderate; asymptomatic . She was diagnosed by newborn screening program due to family history of previous sib death with MSUD and she had no hospital admission. Positive family history of an elder sister with classic MSUD, moderate phenotype with rapid deterioration, NICU admission and ventilation in the first week. At the age of 3 month she developed convulsions. She was diagnosed at age of 6 month and started treatment. Then after 3 months she died with fever." "" "" "" "" "" "" "" "" "MSUD1A" "maple syrup urine disease" "" "0000351623" "07171" "00466240" "00006" "Familial, autosomal recessive" "2.5y" "classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had one hospital readmission with metabolic crisis from diagnosis till now." "7d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351624" "07171" "00466241" "00006" "Familial, autosomal recessive" "6.1y" "classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had neurological insult after the first metabolic crisis with development of seizures. She had no hospital readmission for crisis from diagnosis till now." "10d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351625" "07171" "00466242" "00006" "Familial, autosomal recessive" "1.8y" "classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had one hospital readmission from diagnosis with protein deficiency till now." "3d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351626" "07171" "00466243" "00006" "Familial, autosomal recessive" "7.0y" "mild; intermediate form of the disease. He presented with delayed milestones of development at the age of 3.5 months associated with attacks of convulsions." "105d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351627" "07171" "00466244" "00006" "Familial, autosomal recessive" "6.5y" "moderate; classic MSUD, with early coma at the age of 4 days followed by rapid deterioration that required ventilation for one month. She was, then, diagnosed by Ms/Ms and received treatment for MSUD. She was readmitted one time at 5 years of age due to metabolic crisis." "4d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351628" "07171" "00466245" "00006" "Familial, autosomal recessive" "8.3y" "severe; classic MSUD presented with poor suckling, vomiting, lethargy, convulsions, irritability, and abnormal level of consciousness. He had frequent hospital readmissions." "1d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351629" "07171" "00466246" "00006" "Familial, autosomal recessive" "2.0y" "moderate; classic MSUD with rapid deterioration, hyperammonemia and NICU admission with ventilation. He had no hospital readmission from diagnosis till now." "4d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351630" "07171" "00466247" "00006" "Familial, autosomal recessive" "5.5y" "classic MSUD with rapid deterioration. He was admitted to NICU for 10 days and was ventilated." "5d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351631" "07171" "00466248" "00006" "Familial, autosomal recessive" "1.5y" "severe; classic MSUD, developed poor suckling and convulsion on the second day after birth. He was admitted to NICU and ventilated for 30 days. He was then discharged undiagnosed. He was diagnosed by Ms/Ms at 5 months. He had multiple hospital readmissions for metabolic crisis." "2d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351632" "07171" "00466249" "00006" "Familial, autosomal recessive" "2.0y" "moderate; classic MSUD. He was normal till the age of 7 days. Then he developed poor suckling, lethargy, convulsions. EMS was done at the age of 60 days and was diagnostic for MSUD. The patient lost follow up after one year of age." "7d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351633" "07171" "00466250" "00006" "Familial, autosomal recessive" "4.0y" "classic MSUD with rapid deterioration and admission to NICU for 30 days. EMS was done at the age of 14 days, and was diagnostic for MSUD. No history of hospital readmission for metabolic decompensation from diagnosis till now." "7d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351634" "07171" "00466251" "00006" "Familial, autosomal recessive" "5.2y" "severe; classic MSUD with rapid deterioration and admission to NICU with ventilation for 30 days. Then he was discharged undiagnosed. EMS was done at the age of 3 months and was diagnostic for MSUD. He had history of frequent hospital readmission for metabolic crisis." "4d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351635" "07171" "00466252" "00006" "Familial, autosomal recessive" "7.1y" "classic MSUD with rapid deterioration and admission to NICU with ventilation. The EMS was done at age of one month and was diagnostic for MSUD. At the age of 6 years, he was admitted to PICU with convulsions and coma. He had history of frequent hospital readmission for metabolic crisis." "7d" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351651" "07171" "00466268" "00006" "Familial, autosomal recessive" "5y5m" "moderate developmental delay, hypotonia, mild brain atrophy" "" "3y" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351654" "07171" "00466286" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351655" "07171" "00466287" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351659" "07171" "00466291" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351660" "07171" "00466292" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351664" "07171" "00466296" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351665" "07171" "00466297" "00006" "Familial, autosomal recessive" "" "variant MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351667" "07171" "00466299" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351669" "07171" "00466301" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351670" "07171" "00466302" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351671" "07171" "00466303" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351672" "07171" "00466304" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351675" "07171" "00466307" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351676" "07171" "00466308" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351682" "07171" "00466314" "00006" "Familial, autosomal recessive" "" "mild (newborn screening, mild course)" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351683" "07171" "00466315" "00006" "Familial, autosomal recessive" "" "mild (asymptomatic)" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351684" "07171" "00466316" "00006" "Familial, autosomal recessive" "" "mild (intermittent)" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351685" "07171" "00466317" "00006" "Familial, autosomal recessive" "" "mild (intermittent)" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351686" "07171" "00466318" "00006" "Familial, autosomal recessive" "" "mild (asymptomatic)" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351687" "07171" "00466319" "00006" "Familial, autosomal recessive" "" "mild (intermittent)" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295378" "00294210" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295379" "00294211" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295380" "00294212" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296517" "00295349" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297720" "00296610" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000387731" "00386504" "1" "00006" "00006" "2021-10-22 17:45:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439774" "00438292" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448473" "00446898" "1" "04619" "04619" "2024-01-24 12:20:25" "" "" "SEQ-NG" "DNA" "BLOOD" "" "0000451918" "00450321" "1" "04221" "04221" "2024-05-24 21:38:42" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000452067" "00450471" "1" "04221" "04221" "2024-05-28 00:12:52" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000452965" "00451365" "1" "04221" "04221" "2024-05-31 20:58:07" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453234" "00451632" "1" "04221" "04221" "2024-06-17 19:57:49" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453242" "00451640" "1" "04221" "04221" "2024-06-19 22:02:52" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453248" "00451644" "1" "04221" "04221" "2024-06-20 20:05:27" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000467895" "00466239" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467896" "00466240" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467897" "00466241" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467898" "00466242" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467899" "00466243" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467900" "00466244" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467901" "00466245" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467902" "00466246" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467903" "00466247" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467904" "00466248" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467905" "00466249" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467906" "00466250" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467907" "00466251" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467908" "00466252" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467924" "00466268" "1" "00006" "00006" "2025-08-13 09:58:04" "00006" "2025-08-13 10:10:56" "SEQ" "DNA" "" "" "0000467934" "00466278" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467935" "00466279" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467936" "00466280" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467937" "00466281" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467938" "00466282" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467939" "00466283" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467940" "00466284" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467942" "00466286" "1" "00006" "00006" "2025-08-14 12:11:02" "" "" "SEQ" "DNA" "" "" "0000467943" "00466287" "1" "00006" "00006" "2025-08-14 12:11:02" "" "" "SEQ" "DNA" "" "" "0000467947" "00466291" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467948" "00466292" "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" "" "" "0000467953" "00466297" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467955" "00466299" "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" "" "" "0000467958" "00466302" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467959" "00466303" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467960" "00466304" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467963" "00466307" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467964" "00466308" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467970" "00466314" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467971" "00466315" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467972" "00466316" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467973" "00466317" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467974" "00466318" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467975" "00466319" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000451918" "BCKDHB" "0000452067" "BCKDHB" "0000452965" "BCKDHB" "0000453234" "BCKDHB" "0000453242" "BCKDHB" "0000453248" "BCKDHB" "0000467895" "BCKDHB" "0000467896" "BCKDHB" "0000467897" "BCKDHB" "0000467898" "BCKDHB" "0000467899" "BCKDHB" "0000467900" "BCKDHB" "0000467901" "BCKDHB" "0000467902" "BCKDHB" "0000467903" "BCKDHB" "0000467904" "BCKDHB" "0000467905" "BCKDHB" "0000467906" "BCKDHB" "0000467907" "BCKDHB" "0000467908" "BCKDHB" "0000467924" "BCKDHB" "0000467924" "DBT" "0000467934" "BCKDHA" "0000467935" "DBT" "0000467936" "BCKDHB" "0000467937" "BCKDHB" "0000467938" "BCKDHB" "0000467939" "BCKDHB" "0000467940" "BCKDHB" "0000467942" "BCKDHB" "0000467943" "BCKDHB" ## 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 = 96 "{{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}}" "0000254280" "0" "30" "6" "80816461" "80816461" "subst" "0.000842196" "01943" "BCKDHB_000001" "g.80816461A>G" "" "" "" "BCKDHB(NM_183050.4):c.51A>G (p.A17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80106744A>G" "" "likely benign" "" "0000255242" "0" "30" "6" "80837254" "80837254" "subst" "0.00179469" "01943" "BCKDHB_000005" "g.80837254A>T" "" "" "" "BCKDHB(NM_183050.4):c.197-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80127537A>T" "" "likely benign" "" "0000258636" "0" "30" "6" "80837253" "80837253" "del" "0" "02330" "BCKDHB_000003" "g.80837253del" "" "" "" "BCKDHB(NM_183050.4):c.197-11delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80127536del" "" "likely benign" "" "0000258637" "0" "10" "6" "80837253" "80837253" "subst" "0.460453" "02330" "BCKDHB_000004" "g.80837253G>T" "" "" "" "BCKDHB(NM_000056.4):c.197-11G>T, BCKDHB(NM_183050.4):c.197-11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80127536G>T" "" "benign" "" "0000258638" "0" "90" "6" "80982870" "80982870" "subst" "6.1064E-5" "02330" "BCKDHB_000008" "g.80982870C>T" "" "" "" "BCKDHB(NM_183050.4):c.970C>T (p.R324*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80273153C>T" "" "pathogenic" "" "0000261453" "0" "10" "6" "80837253" "80837253" "subst" "0.460453" "02326" "BCKDHB_000004" "g.80837253G>T" "" "" "" "BCKDHB(NM_000056.4):c.197-11G>T, BCKDHB(NM_183050.4):c.197-11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80127536G>T" "" "benign" "" "0000263632" "0" "50" "6" "80838935" "80838935" "subst" "1.22045E-5" "01943" "BCKDHB_000006" "g.80838935G>A" "" "" "" "BCKDHB(NM_183050.4):c.332G>A (p.R111Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80129218G>A" "" "VUS" "" "0000263633" "0" "50" "6" "80910740" "80910740" "subst" "0.000557768" "01943" "BCKDHB_000007" "g.80910740G>A" "" "" "" "BCKDHB(NM_183050.4):c.832G>A (p.G278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80201023G>A" "" "VUS" "" "0000331102" "0" "50" "6" "80816489" "80816489" "subst" "1.55304E-5" "01804" "BCKDHB_000002" "g.80816489C>T" "" "" "" "BCKDHB(NM_000056.3):c.79C>T (p.(Pro27Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80106772C>T" "" "VUS" "" "0000338800" "0" "10" "6" "80837253" "80837253" "subst" "0.460453" "02327" "BCKDHB_000004" "g.80837253G>T" "" "" "" "BCKDHB(NM_000056.4):c.197-11G>T, BCKDHB(NM_183050.4):c.197-11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80127536G>T" "" "benign" "" "0000529911" "0" "10" "6" "80816461" "80816461" "subst" "0.000842196" "02330" "BCKDHB_000001" "g.80816461A>G" "" "" "" "BCKDHB(NM_183050.4):c.51A>G (p.A17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80106744A>G" "" "benign" "" "0000529913" "0" "90" "6" "80881087" "80881096" "dup" "0" "02330" "BCKDHB_000011" "g.80881087_80881096dup" "" "" "" "BCKDHB(NM_183050.4):c.722_731dupAAATACTTTA (p.Y244*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80171370_80171379dup" "" "pathogenic" "" "0000529914" "0" "30" "6" "80910643" "80910643" "subst" "0.000117477" "01804" "BCKDHB_000012" "g.80910643G>T" "" "" "" "BCKDHB(NM_000056.3):c.743-8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80200926G>T" "" "likely benign" "" "0000529915" "0" "30" "6" "80910645" "80910645" "subst" "0" "01804" "BCKDHB_000013" "g.80910645A>T" "" "" "" "BCKDHB(NM_000056.3):c.743-6A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80200928A>T" "" "likely benign" "" "0000529916" "0" "90" "6" "80910707" "80910707" "subst" "8.13603E-6" "02325" "BCKDHB_000014" "g.80910707C>T" "" "" "" "BCKDHB(NM_183050.4):c.799C>T (p.Q267*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80200990C>T" "" "pathogenic" "" "0000529917" "0" "90" "6" "80912831" "80912831" "subst" "4.48098E-5" "01943" "BCKDHB_000015" "g.80912831C>T" "" "" "" "BCKDHB(NM_183050.4):c.853C>T (p.R285*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80203114C>T" "" "pathogenic" "" "0000529918" "0" "90" "6" "80912888" "80912888" "del" "0" "01943" "BCKDHB_000016" "g.80912888del" "" "" "" "BCKDHB(NM_183050.4):c.910delC (p.L304*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80203171del" "" "pathogenic" "" "0000652067" "1" "70" "6" "80838905" "80838905" "subst" "1.22022E-5" "03575" "BCKDHB_000017" "g.80838905G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs398124571}" "Germline" "" "rs398124571" "0" "" "" "g.80129188G>A" "" "likely pathogenic" "" "0000652068" "1" "70" "6" "80912831" "80912831" "subst" "4.48098E-5" "03575" "BCKDHB_000015" "g.80912831C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398124598}" "Germline" "" "rs398124598" "0" "" "" "g.80203114C>T" "" "likely pathogenic" "" "0000652069" "1" "50" "6" "81053388" "81053388" "subst" "0" "03575" "BCKDHB_000019" "g.81053388G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs398124562}" "Germline" "" "rs398124562" "0" "" "" "g.80343671G>A" "" "VUS" "" "0000653206" "1" "70" "6" "80982922" "80982922" "subst" "0" "03575" "BCKDHB_000018" "g.80982922T>A" "4/2777 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs796051939}" "Germline" "" "rs796051939" "0" "" "" "g.80273205T>A" "" "likely pathogenic" "" "0000655670" "0" "50" "6" "80878747" "80878747" "subst" "0.000199255" "01943" "BCKDHB_000020" "g.80878747G>C" "" "" "" "BCKDHB(NM_183050.4):c.633G>C (p.K211N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80169030G>C" "" "VUS" "" "0000660374" "0" "50" "6" "80816433" "80816433" "subst" "0" "00006" "BCKDHB_000021" "g.80816433C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.80106716C>T" "" "VUS" "" "0000677895" "0" "50" "6" "80816582" "80816582" "subst" "0" "01943" "BCKDHB_000022" "g.80816582C>T" "" "" "" "BCKDHB(NM_183050.4):c.172C>T (p.P58S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721120" "0" "30" "6" "80816420" "80816420" "subst" "4.87214E-5" "01943" "BCKDHB_000023" "g.80816420G>A" "" "" "" "BCKDHB(NM_183050.4):c.10G>A (p.V4I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721121" "0" "70" "6" "80838884" "80838894" "del" "0" "02329" "BCKDHB_000010" "g.80838884_80838894del" "" "" "" "BCKDHB(NM_183050.4):c.281_291delTTGGTGAAGAT (p.F94Cfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721122" "0" "90" "6" "80982870" "80982870" "subst" "6.1064E-5" "02325" "BCKDHB_000008" "g.80982870C>T" "" "" "" "BCKDHB(NM_183050.4):c.970C>T (p.R324*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000815865" "3" "70" "6" "80982895" "80982895" "subst" "0" "00006" "BCKDHB_000024" "g.80982895C>T" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80273178C>T" "" "likely pathogenic" "" "0000887477" "0" "70" "6" "80877448" "80877448" "subst" "0" "02327" "BCKDHB_000025" "g.80877448G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887478" "0" "90" "6" "80912831" "80912831" "subst" "4.48098E-5" "02327" "BCKDHB_000015" "g.80912831C>T" "" "" "" "BCKDHB(NM_183050.4):c.853C>T (p.R285*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000935903" "1" "90" "6" "80837262" "80837262" "subst" "0" "00006" "BCKDHB_000026" "g.80837262A>G" "" "{PMID:Chuan 2022:35571021}" "" "NM_183050.4:c.197-2A>G" "" "Germline" "" "" "0" "" "" "g.80127545A>G" "" "pathogenic" "" "0000936030" "2" "90" "6" "80837288" "80837288" "del" "0" "00006" "BCKDHB_000027" "g.80837288del" "" "{PMID:Chuan 2022:35571021}" "" "218delT" "ACMG PVS1,PM2,PM3,PM4" "Germline" "" "" "0" "" "" "g.80127571del" "" "pathogenic" "ACMG" "0000957952" "3" "90" "6" "80837213" "80881158" "dup" "0" "04619" "BCKDHB_000028" "g.(?_80837213)_(80881158_?)dup" "" "" "" "197-51_742+51dup" "" "Germline" "?" "" "0" "" "" "g.(?_80127496)_(80171441_?)dup" "" "VUS" "ACMG" "0000977380" "0" "50" "6" "80837305" "80837305" "subst" "0" "01804" "BCKDHB_000029" "g.80837305G>A" "" "" "" "BCKDHB(NM_183050.4):c.238G>A (p.(Ala80Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977381" "0" "50" "6" "80910680" "80910680" "subst" "0.000235976" "01804" "BCKDHB_000030" "g.80910680A>T" "" "" "" "BCKDHB(NM_183050.4):c.772A>T (p.(Ile258Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985835" "3" "90" "6" "80982870" "80982870" "subst" "6.1064E-5" "04221" "BCKDHB_000008" "g.80982870C>T" "" "" "" "" "Puckett 2010:20307994, Bashyam 2012:22593002, Couce 2015:26232051" "Germline" "yes" "rs398124603" "0" "" "" "g.80273153C>T" "96621" "pathogenic (recessive)" "ACMG" "0000986019" "3" "90" "6" "81053429" "81053429" "subst" "1.21905E-5" "04221" "BCKDHB_000031" "g.81053429T>A" "2/97 patients" "" "" "" "Confirmed by Sanger sequencing. Another patient (with the same phenotype) showed the same variant in heterozygous state together with the pathogenic nonsense variant NM_183050.4:c.564T>A, p.Cys188*" "Germline" "yes" "rs398124565" "" "" "" "g.80343712T>A" "{CV:96568}" "likely pathogenic (recessive)" "ACMG" "0000987407" "1" "90" "6" "80878678" "80878678" "subst" "1.21868E-5" "04221" "BCKDHB_000032" "g.80878678T>A" "" "" "" "" "" "Germline" "yes" "rs774306610" "0" "" "" "g.80168961T>A" "{CV:580585}" "pathogenic (recessive)" "ACMG" "0000987408" "2" "90" "6" "81053429" "81053429" "subst" "1.21905E-5" "04221" "BCKDHB_000031" "g.81053429T>A" "2/97 patients" "" "" "" "Confirmed by Sanger sequencing. Another patient (with the same phenotype) showed the same variant in homozygous state." "Germline" "yes" "rs398124565" "" "" "" "g.80343712T>A" "{CV:96568}" "pathogenic (recessive)" "ACMG" "0000987773" "3" "90" "6" "80816562" "80816562" "del" "0" "04221" "BCKDHB_000033" "g.80816562del" "" "" "" "" "Bashyam 2012:22593002, Rodríguez-Pombo 2006:16786533" "Germline" "yes" "rs867612284" "0" "" "" "g.80106845del" "{CV:527129}" "pathogenic (recessive)" "ACMG" "0000987788" "1" "90" "6" "80912831" "80912831" "subst" "4.48098E-5" "04221" "BCKDHB_000015" "g.80912831C>T" "" "{PMID:Fang 2021:34556729, Narang 2020:32906206, Mei 2018:30298494}" "" "" "" "Germline" "yes" "rs398124598" "" "" "" "g.80203114C>T" "{CV:96615}" "pathogenic (recessive)" "ACMG" "0000987789" "2" "70" "6" "80881032" "80881032" "subst" "0" "04221" "BCKDHB_000034" "g.80881032G>C" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020)." "Germline" "yes" "rs1248040495" "0" "" "" "g.80171315G>C" "" "likely pathogenic (recessive)" "ACMG" "0000987796" "3" "90" "6" "80878678" "80878678" "subst" "1.21868E-5" "04221" "BCKDHB_000032" "g.80878678T>A" "" "" "" "" "Bashyam 2012:22593002, Gorzelany 2009:22593002, Rodríguez-Pombo 2006:16786533" "Germline" "yes" "rs774306610" "0" "" "" "g.80168961T>A" "{CV:580585}" "pathogenic (recessive)" "ACMG" "0001035936" "0" "30" "6" "80910652" "80910652" "subst" "0.000199604" "01804" "BCKDHB_000035" "g.80910652G>A" "" "" "" "BCKDHB(NM_183050.4):c.744G>A (p.(Ala248=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035937" "0" "70" "6" "80982940" "80982940" "subst" "4.07544E-6" "01804" "BCKDHB_000036" "g.80982940T>C" "" "" "" "BCKDHB(NM_183050.4):c.1038+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001047305" "3" "70" "6" "81053433" "81053433" "subst" "0" "00006" "BCKDHB_000062" "g.81053433A>G" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "" "0" "" "" "g.80343716A>G" "" "likely pathogenic (recessive)" "" "0001047306" "3" "70" "6" "81053433" "81053433" "subst" "0" "00006" "BCKDHB_000062" "g.81053433A>G" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "" "0" "" "" "g.80343716A>G" "" "likely pathogenic (recessive)" "" "0001047307" "3" "70" "6" "81053433" "81053433" "subst" "0" "00006" "BCKDHB_000062" "g.81053433A>G" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "" "0" "" "" "g.80343716A>G" "" "likely pathogenic (recessive)" "" "0001047308" "3" "70" "6" "81053433" "81053433" "subst" "0" "00006" "BCKDHB_000062" "g.81053433A>G" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "" "0" "" "" "g.80343716A>G" "" "likely pathogenic (recessive)" "" "0001047309" "3" "70" "6" "80982895" "80982895" "subst" "0" "00006" "BCKDHB_000024" "g.80982895C>T" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs1554205541" "0" "" "" "g.80273178C>T" "" "likely pathogenic (recessive)" "" "0001047310" "3" "70" "6" "80910714" "80910714" "subst" "0" "00006" "BCKDHB_000056" "g.80910714G>A" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "" "0" "" "" "g.80200997G>A" "" "likely pathogenic (recessive)" "" "0001047311" "3" "90" "6" "80912831" "80912831" "subst" "4.48098E-5" "00006" "BCKDHB_000015" "g.80912831C>T" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs398124598" "0" "" "" "g.80203114C>T" "" "pathogenic (recessive)" "" "0001047312" "3" "90" "6" "80982870" "80982870" "subst" "6.1064E-5" "00006" "BCKDHB_000008" "g.80982870C>T" "4/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs398124603" "0" "" "" "g.80273153C>T" "" "pathogenic (recessive)" "" "0001047313" "3" "90" "6" "80982870" "80982870" "subst" "6.1064E-5" "00006" "BCKDHB_000008" "g.80982870C>T" "4/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs398124603" "0" "" "" "g.80273153C>T" "" "pathogenic (recessive)" "" "0001047314" "3" "90" "6" "80877461" "80877461" "subst" "1.21972E-5" "00006" "BCKDHB_000047" "g.80877461C>T" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs776631396" "0" "" "" "g.80167744C>T" "" "pathogenic (recessive)" "" "0001047315" "3" "90" "6" "80838891" "80838891" "del" "0" "00006" "BCKDHB_000042" "g.80838891del" "4/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "287_287delA" "" "Germline" "" "" "0" "" "" "g.80129174del" "" "pathogenic (recessive)" "" "0001047316" "3" "90" "6" "80838891" "80838891" "del" "0" "00006" "BCKDHB_000042" "g.80838891del" "4/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "287_287delA" "" "Germline" "" "" "0" "" "" "g.80129174del" "" "pathogenic (recessive)" "" "0001047317" "3" "90" "6" "80912886" "80912886" "dup" "0" "00006" "BCKDHB_000060" "g.80912886dup" "4/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "908_909insA" "" "Germline" "" "" "0" "" "" "g.80203169dup" "" "pathogenic (recessive)" "" "0001047318" "3" "90" "6" "80912886" "80912886" "dup" "0" "00006" "BCKDHB_000060" "g.80912886dup" "4/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "908_909insA" "" "Germline" "" "" "0" "" "" "g.80203169dup" "" "pathogenic (recessive)" "" "0001047338" "0" "10" "6" "80837387" "80837387" "subst" "0" "00006" "BCKDHB_000037" "g.80837387G>A" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.80127670G>A" "" "benign" "" "0001047339" "0" "10" "6" "80837395" "80837395" "subst" "0" "00006" "BCKDHB_000038" "g.80837395G>A" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.80127678G>A" "" "benign" "" "0001047340" "0" "10" "6" "80837274" "80837274" "subst" "0" "00006" "BCKDHB_000039" "g.80837274G>A" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.80127557G>A" "" "benign" "" "0001047349" "0" "10" "19" "41930396" "41930396" "subst" "0.592782" "00006" "BCKDHA_000021" "g.41930396A>G" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs4674" "0" "" "" "g.41424491A>G" "" "benign" "" "0001047350" "0" "10" "1" "100672060" "100672060" "subst" "0.917884" "00006" "DBT_000028" "g.100672060T>C" "34/100 control chromosomes" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "12 homozygous controls, 10 heterozygous" "Germline" "" "rs12021720" "0" "" "" "g.100206504T>C" "" "benign" "" "0001047351" "0" "10" "6" "80837239" "80837239" "subst" "0.45823" "00006" "BCKDHB_000041" "g.80837239A>G" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs9448893" "0" "" "" "g.80127522A>G" "" "benign" "" "0001047352" "0" "10" "6" "80837253" "80837253" "subst" "0.460453" "00006" "BCKDHB_000004" "g.80837253G>T" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs9448894" "0" "" "" "g.80127536G>T" "" "benign" "" "0001047353" "0" "10" "6" "80912746" "80912746" "subst" "0" "00006" "BCKDHB_000058" "g.80912746C>T" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs3828753" "0" "" "" "g.80203029C>T" "" "benign" "" "0001047354" "0" "10" "6" "81055792" "81055792" "subst" "0" "00006" "BCKDHB_000064" "g.81055792G>A" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs15062" "0" "" "" "g.80346075G>A" "" "benign" "" "0001047355" "0" "10" "6" "81055803" "81055803" "subst" "0" "00006" "BCKDHB_000065" "g.81055803C>T" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs10864" "0" "" "" "g.80346086C>T" "" "benign" "" "0001047361" "3" "90" "6" "80881081" "80881081" "subst" "0" "00006" "BCKDHB_000052" "g.80881081A>G" "" "{PMID:Jaafar 2013:23313820}, {DOI:Jaafar 2013:10.1016/j.gene.2012.12.097}" "" "" "" "Germline" "" "" "0" "" "" "g.80171364A>G" "" "pathogenic (recessive)" "" "0001047362" "3" "90" "6" "80881081" "80881081" "subst" "0" "00006" "BCKDHB_000052" "g.80881081A>G" "" "{PMID:Jaafar 2013:23313820}, {DOI:Jaafar 2013:10.1016/j.gene.2012.12.097}" "" "" "" "Germline" "" "" "0" "" "" "g.80171364A>G" "" "pathogenic (recessive)" "" "0001047366" "3" "90" "6" "80881030" "80881030" "subst" "0" "00006" "BCKDHB_000051" "g.80881030A>G" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germline" "" "" "0" "" "" "g.80171313A>G" "" "pathogenic (recessive)" "" "0001047367" "3" "90" "6" "80912915" "80912915" "del" "0" "00006" "BCKDHB_000061" "g.80912915del" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "937delG" "enzyme activity 0.03" "Germline" "" "" "0" "" "" "g.80203198del" "" "pathogenic (recessive)" "" "0001047371" "1" "90" "6" "80877454" "80877454" "subst" "4.06501E-6" "00006" "BCKDHB_000046" "g.80877454G>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity <0.05" "Germline" "" "" "0" "" "" "g.80167737G>A" "" "pathogenic (recessive)" "" "0001047372" "1" "90" "6" "80910740" "80910740" "subst" "0.000557768" "00006" "BCKDHB_000007" "g.80910740G>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}, {PMID:Flaschker 2007:17922217}" "" "" "" "Germline" "" "" "0" "" "" "g.80201023G>A" "" "pathogenic (recessive)" "" "0001047374" "3" "90" "6" "81053491" "81053491" "subst" "0" "00006" "BCKDHB_000063" "g.81053491T>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germline" "" "" "0" "" "" "g.80343774T>A" "" "pathogenic (recessive)" "" "0001047376" "3" "90" "6" "80910660" "80910660" "subst" "0" "00006" "BCKDHB_000055" "g.80910660T>C" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity <0.01" "Germline" "" "" "0" "" "" "g.80200943T>C" "" "pathogenic (recessive)" "" "0001047377" "3" "90" "6" "80881086" "80881086" "subst" "0" "00006" "BCKDHB_000053" "g.80881086A>T" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity <0.05" "Germline" "" "" "0" "" "" "g.80171369A>T" "" "pathogenic (recessive)" "" "0001047378" "1" "90" "6" "80816573" "80816576" "dup" "0" "00006" "BCKDHB_000040" "g.80816573_80816576dup" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "163_166dupACTT" "no enzyme activity" "Germline" "" "" "0" "" "" "g.80106856_80106859dup" "" "pathogenic (recessive)" "" "0001047379" "3" "90" "6" "80912831" "80912831" "subst" "4.48098E-5" "00006" "BCKDHB_000015" "g.80912831C>T" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germline" "" "" "0" "" "" "g.80203114C>T" "" "pathogenic (recessive)" "" "0001047382" "3" "90" "6" "81053491" "81053491" "subst" "0" "00006" "BCKDHB_000063" "g.81053491T>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity <0.01" "Germline" "" "" "0" "" "" "g.80343774T>A" "" "pathogenic (recessive)" "" "0001047383" "3" "90" "6" "80881086" "80881086" "subst" "0" "00006" "BCKDHB_000053" "g.80881086A>T" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity 0.05" "Germline" "" "" "0" "" "" "g.80171369A>T" "" "pathogenic (recessive)" "" "0001047387" "2" "90" "6" "80878709" "80878710" "del" "0" "00006" "BCKDHB_000009" "g.80878709_80878710del" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "595_596delAG" "enzyme activity <0.05" "Germline" "" "" "0" "" "" "g.80168992_80168993del" "" "pathogenic (recessive)" "" "0001047390" "2" "90" "6" "80878709" "80878710" "del" "0" "00006" "BCKDHB_000009" "g.80878709_80878710del" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}, {PMID:Flaschker 2007:17922217}" "" "595_596delAG" "" "Germline" "" "" "0" "" "" "g.80168992_80168993del" "" "pathogenic (recessive)" "" "0001047393" "2" "90" "6" "80877526" "80877526" "subst" "0" "00006" "BCKDHB_000048" "g.80877526C>A" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "no enzyme activity" "Germline" "" "" "0" "" "" "g.80167809C>A" "" "pathogenic (recessive)" "" "0001047401" "1" "90" "6" "80838934" "80838934" "subst" "8.13637E-6" "00006" "BCKDHB_000043" "g.80838934C>T" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80129217C>T" "" "pathogenic (recessive)" "" "0001047402" "1" "90" "6" "80877419" "80877419" "subst" "0" "00006" "BCKDHB_000044" "g.80877419C>T" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80167702C>T" "" "pathogenic (recessive)" "" "0001047403" "1" "90" "6" "80877440" "80877440" "subst" "0" "00006" "BCKDHB_000045" "g.80877440T>G" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80167723T>G" "" "pathogenic (recessive)" "" "0001047404" "1" "90" "6" "80878616" "80878616" "subst" "8.12401E-6" "00006" "BCKDHB_000049" "g.80878616C>T" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80168899C>T" "" "pathogenic (recessive)" "" "0001047405" "3" "90" "6" "80910740" "80910740" "subst" "0.000557768" "00006" "BCKDHB_000007" "g.80910740G>A" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80201023G>A" "" "pathogenic (recessive)" "" "0001047406" "1" "90" "6" "80910740" "80910740" "subst" "0.000557768" "00006" "BCKDHB_000007" "g.80910740G>A" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80201023G>A" "" "pathogenic (recessive)" "" "0001047414" "2" "90" "6" "80878712" "80878712" "subst" "0" "00006" "BCKDHB_000050" "g.80878712C>G" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80168995C>G" "" "pathogenic (recessive)" "" "0001047415" "2" "90" "6" "80910740" "80910740" "subst" "0.000557768" "00006" "BCKDHB_000007" "g.80910740G>A" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80201023G>A" "" "pathogenic (recessive)" "" "0001047416" "2" "90" "6" "80881095" "80881095" "subst" "0" "00006" "BCKDHB_000054" "g.80881095T>C" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "724T>C (Tyr244His)" "" "Germline" "" "" "0" "" "" "g.80171378T>C" "" "pathogenic (recessive)" "" "0001047417" "2" "90" "6" "80912826" "80912826" "subst" "0" "00006" "BCKDHB_000059" "g.80912826T>C" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80203109T>C" "" "pathogenic (recessive)" "" "0001047418" "2" "90" "6" "80910719" "80910732" "del" "0" "00006" "BCKDHB_000057" "g.80910719_80910732del" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.80201002_80201015del" "" "pathogenic (recessive)" "" ## 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 BCKDHB ## Count = 135 "{{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}}" "0000254280" "00025929" "30" "51" "0" "51" "0" "c.51A>G" "r.(?)" "p.(Ala17=)" "" "0000254280" "00003315" "30" "51" "0" "51" "0" "c.51A>G" "r.(?)" "p.(Ala17=)" "" "0000255242" "00025929" "30" "197" "-10" "197" "-10" "c.197-10A>T" "r.(=)" "p.(=)" "" "0000255242" "00003315" "30" "197" "-10" "197" "-10" "c.197-10A>T" "r.(=)" "p.(=)" "" "0000258636" "00025929" "30" "197" "-11" "197" "-11" "c.197-11del" "r.(=)" "p.(=)" "" "0000258636" "00003315" "30" "197" "-11" "197" "-11" "c.197-11del" "r.(=)" "p.(=)" "" "0000258637" "00025929" "10" "197" "-11" "197" "-11" "c.197-11G>T" "r.(=)" "p.(=)" "" "0000258637" "00003315" "10" "197" "-11" "197" "-11" "c.197-11G>T" "r.(=)" "p.(=)" "" "0000258638" "00025929" "90" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Ter)" "" "0000258638" "00003315" "90" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Ter)" "" "0000261453" "00025929" "10" "197" "-11" "197" "-11" "c.197-11G>T" "r.(=)" "p.(=)" "" "0000261453" "00003315" "10" "197" "-11" "197" "-11" "c.197-11G>T" "r.(=)" "p.(=)" "" "0000263632" "00025929" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Gln)" "" "0000263632" "00003315" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Gln)" "" "0000263633" "00025929" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Gly278Ser)" "" "0000263633" "00003315" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Gly278Ser)" "" "0000331102" "00025929" "50" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Pro27Ser)" "" "0000331102" "00003315" "50" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Pro27Ser)" "" "0000338800" "00025929" "10" "197" "-11" "197" "-11" "c.197-11G>T" "r.(=)" "p.(=)" "" "0000338800" "00003315" "10" "197" "-11" "197" "-11" "c.197-11G>T" "r.(=)" "p.(=)" "" "0000529911" "00025929" "10" "51" "0" "51" "0" "c.51A>G" "r.(?)" "p.(Ala17=)" "" "0000529911" "00003315" "10" "51" "0" "51" "0" "c.51A>G" "r.(?)" "p.(Ala17=)" "" "0000529913" "00025929" "90" "722" "0" "731" "0" "c.722_731dup" "r.(?)" "p.(Tyr244Ter)" "" "0000529913" "00003315" "90" "722" "0" "731" "0" "c.722_731dup" "r.(?)" "p.(Tyr244Ter)" "" "0000529914" "00025929" "30" "743" "-8" "743" "-8" "c.743-8G>T" "r.(=)" "p.(=)" "" "0000529914" "00003315" "30" "743" "-8" "743" "-8" "c.743-8G>T" "r.(=)" "p.(=)" "" "0000529915" "00025929" "30" "743" "-6" "743" "-6" "c.743-6A>T" "r.(=)" "p.(=)" "" "0000529915" "00003315" "30" "743" "-6" "743" "-6" "c.743-6A>T" "r.(=)" "p.(=)" "" "0000529916" "00025929" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Gln267Ter)" "" "0000529916" "00003315" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Gln267Ter)" "" "0000529917" "00025929" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Ter)" "" "0000529917" "00003315" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Ter)" "" "0000529918" "00025929" "90" "910" "0" "910" "0" "c.910del" "r.(?)" "p.(Leu304Ter)" "" "0000529918" "00003315" "90" "910" "0" "910" "0" "c.910del" "r.(?)" "p.(Leu304Ter)" "" "0000652067" "00025929" "70" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Gly101Asp)" "" "0000652067" "00003315" "70" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Gly101Asp)" "" "0000652068" "00025929" "70" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285*)" "" "0000652068" "00003315" "70" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285*)" "" "0000652069" "00025929" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Cys349Tyr)" "" "0000652069" "00003315" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Cys349Tyr)" "" "0000653206" "00025929" "70" "1022" "0" "1022" "0" "c.1022T>A" "r.(?)" "p.(Ile341Asn)" "" "0000653206" "00003315" "70" "1022" "0" "1022" "0" "c.1022T>A" "r.(?)" "p.(Ile341Asn)" "" "0000655670" "00025929" "50" "633" "0" "633" "0" "c.633G>C" "r.(?)" "p.(Lys211Asn)" "" "0000655670" "00003315" "50" "633" "0" "633" "0" "c.633G>C" "r.(?)" "p.(Lys211Asn)" "" "0000660374" "00003315" "50" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Ala8Val)" "" "0000677895" "00025929" "50" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Pro58Ser)" "" "0000677895" "00003315" "50" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Pro58Ser)" "" "0000721120" "00025929" "30" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Val4Ile)" "" "0000721120" "00003315" "30" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Val4Ile)" "" "0000721121" "00025929" "70" "281" "0" "291" "0" "c.281_291del" "r.(?)" "p.(Phe94CysfsTer8)" "" "0000721121" "00003315" "70" "281" "0" "291" "0" "c.281_291del" "r.(?)" "p.(Phe94CysfsTer8)" "" "0000721122" "00025929" "90" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Ter)" "" "0000721122" "00003315" "90" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Ter)" "" "0000815865" "00003315" "70" "995" "0" "995" "0" "c.995C>T" "r.(?)" "p.(Pro332Leu)" "" "0000887477" "00025929" "70" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Gly133Arg)" "" "0000887477" "00003315" "70" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Gly133Arg)" "" "0000887478" "00025929" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Ter)" "" "0000887478" "00003315" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Ter)" "" "0000935903" "00003315" "90" "197" "-2" "197" "-2" "c.197-2A>G" "r.spl" "p.?" "" "0000936030" "00003315" "90" "221" "0" "221" "0" "c.221del" "r.(?)" "p.(Phe74Serfs*4)" "" "0000957952" "00003315" "90" "197" "-51" "742" "51" "c.(?_197-51)_(742+51_?)dup" "r.?" "p.?" "" "0000977380" "00025929" "50" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Ala80Thr)" "" "0000977380" "00003315" "50" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Ala80Thr)" "" "0000977381" "00025929" "50" "772" "0" "772" "0" "c.772A>T" "r.(?)" "p.(Ile258Phe)" "" "0000977381" "00003315" "50" "772" "0" "772" "0" "c.772A>T" "r.(?)" "p.(Ile258Phe)" "" "0000985835" "00003315" "90" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324*)" "9" "0000986019" "00025929" "90" "1087" "0" "1087" "0" "c.1087T>A" "r.(?)" "p.(Tyr363Asn)" "10" "0000986019" "00003315" "90" "1087" "0" "1087" "0" "c.1087T>A" "r.(?)" "p.(Tyr363Asn)" "10" "0000987407" "00025929" "90" "564" "0" "564" "0" "c.564T>A" "r.(?)" "p.(Cys188*)" "" "0000987407" "00003315" "90" "564" "0" "564" "0" "c.564T>A" "r.(?)" "p.(Cys188*)" "5" "0000987408" "00025929" "90" "1087" "0" "1087" "0" "c.1087T>A" "r.(?)" "p.(Tyr363Asn)" "" "0000987408" "00003315" "90" "1087" "0" "1087" "0" "c.1087T>A" "r.(?)" "p.(Tyr363Asn)" "10" "0000987773" "00025929" "90" "152" "0" "152" "0" "c.152del" "r.(?)" "p.(Val51Glyfs*21)" "1" "0000987773" "00003315" "90" "152" "0" "152" "0" "c.152del" "r.(?)" "p.(Val51Glyfs*21)" "1" "0000987788" "00003315" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285*)" "8" "0000987789" "00003315" "70" "667" "0" "667" "0" "c.667G>C" "r.(?)" "p.(Gly223Arg)" "6" "0000987796" "00003315" "90" "564" "0" "564" "0" "c.564T>A" "r.(?)" "p.(Cys188*)" "5" "0001035936" "00025929" "30" "744" "0" "744" "0" "c.744G>A" "r.(?)" "p.(=)" "" "0001035936" "00003315" "30" "744" "0" "744" "0" "c.744G>A" "r.(?)" "p.(=)" "" "0001035937" "00025929" "70" "1038" "2" "1038" "2" "c.1038+2T>C" "r.spl?" "p.?" "" "0001035937" "00003315" "70" "1038" "2" "1038" "2" "c.1038+2T>C" "r.spl?" "p.?" "" "0001047305" "00003315" "70" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Asp364Gly)" "10" "0001047306" "00003315" "70" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Asp364Gly)" "10" "0001047307" "00003315" "70" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Asp364Gly)" "10" "0001047308" "00003315" "70" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Asp364Gly)" "10" "0001047309" "00003315" "70" "995" "0" "995" "0" "c.995C>T" "r.(?)" "p.(Pro332Leu)" "9" "0001047310" "00003315" "70" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Gly269Glu)" "7" "0001047311" "00003315" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Ter)" "8" "0001047312" "00003315" "90" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Ter)" "9" "0001047313" "00003315" "90" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Ter)" "9" "0001047314" "00003315" "90" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Ala137Val)" "4" "0001047315" "00003315" "90" "288" "0" "288" "0" "c.288del" "r.(?)" "p.(Asp97MetfsTer133)" "3" "0001047316" "00003315" "90" "288" "0" "288" "0" "c.288del" "r.(?)" "p.(Asp97MetfsTer133)" "3" "0001047317" "00003315" "90" "908" "0" "908" "0" "c.908dup" "r.(?)" "p.(Asp303GlufsTer15)" "8" "0001047318" "00003315" "90" "908" "0" "908" "0" "c.908dup" "r.(?)" "p.(Asp303GlufsTer15)" "8" "0001047338" "00025929" "10" "274" "46" "274" "46" "c.274+46G>A" "r.(?)" "p.(=)" "2i" "0001047338" "00003315" "10" "274" "46" "274" "46" "c.274+46G>A" "r.(?)" "p.(=)" "2i" "0001047339" "00025929" "10" "274" "54" "274" "54" "c.274+54G>A" "r.(?)" "p.(=)" "2i" "0001047339" "00003315" "10" "274" "54" "274" "54" "c.274+54G>A" "r.(?)" "p.(=)" "2i" "0001047340" "00025929" "10" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Gln69=)" "2" "0001047340" "00003315" "10" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Gln69=)" "2" "0001047349" "00003315" "10" "1221" "0" "1221" "0" "c.1221A>G" "r.(?)" "p.(Leu407=)" "" "0001047350" "00003315" "10" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Ser384Gly)" "" "0001047351" "00003315" "10" "197" "-25" "197" "-25" "c.197-25A>G" "r.(?)" "p.(=)" "" "0001047352" "00003315" "10" "197" "-11" "197" "-11" "c.197-11G>T" "r.(?)" "p.(=)" "" "0001047353" "00003315" "10" "841" "-73" "841" "-73" "c.841-73C>T" "r.(?)" "p.(=)" "" "0001047354" "00003315" "10" "" "0" "" "0" "c.*109G>A" "r.(?)" "p.(=)" "" "0001047355" "00003315" "10" "" "0" "" "0" "c.*120C>T" "r.(?)" "p.(=)" "" "0001047361" "00003315" "90" "716" "0" "716" "0" "c.716A>G" "r.(?)" "p.(Glu239Gly)" "" "0001047362" "00003315" "90" "716" "0" "716" "0" "c.716A>G" "r.(?)" "p.(Glu239Gly)" "" "0001047366" "00003315" "90" "665" "0" "665" "0" "c.665A>G" "r.(?)" "p.(Lys222Arg)" "6" "0001047367" "00003315" "90" "937" "0" "937" "0" "c.937del" "r.(?)" "p.(Asp313ThrfsTer7)" "8" "0001047371" "00003315" "90" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Gly135Arg)" "4" "0001047372" "00003315" "90" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Gly278Ser)" "7" "0001047374" "00003315" "90" "1149" "0" "1149" "0" "c.1149T>A" "r.(?)" "p.(Tyr383Ter)" "10" "0001047376" "00003315" "90" "752" "0" "752" "0" "c.752T>C" "r.(?)" "p.(Val251Ala)" "7" "0001047377" "00003315" "90" "721" "0" "721" "0" "c.721A>T" "r.(?)" "p.(Lys241Ter)" "6" "0001047378" "00003315" "90" "163" "0" "166" "0" "c.163_166dup" "r.(?)" "p.(Phe56TyrfsTer29)" "1" "0001047379" "00003315" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Ter)" "8" "0001047382" "00003315" "90" "1149" "0" "1149" "0" "c.1149T>A" "r.(?)" "p.(Tyr383Ter)" "10" "0001047383" "00003315" "90" "721" "0" "721" "0" "c.721A>T" "r.(?)" "p.(Lys241Ter)" "6" "0001047387" "00003315" "90" "595" "0" "596" "0" "c.595_596del" "r.(?)" "p.(Pro200Ter)" "5" "0001047390" "00003315" "90" "595" "0" "596" "0" "c.595_596del" "r.(?)" "p.(Pro200Ter)" "5" "0001047393" "00003315" "90" "475" "0" "475" "0" "c.475C>A" "r.(?)" "p.(Gln159Lys)" "4" "0001047401" "00003315" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "3" "0001047402" "00003315" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Pro123Leu)" "4" "0001047403" "00003315" "90" "389" "0" "389" "0" "c.389T>G" "r.(?)" "p.(Val130Gly)" "4" "0001047404" "00003315" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0001047405" "00003315" "90" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Gly278Ser)" "7" "0001047406" "00003315" "90" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Gly278Ser)" "7" "0001047414" "00003315" "90" "598" "0" "598" "0" "c.598C>G" "r.(?)" "p.(Pro200Ala)" "5" "0001047415" "00003315" "90" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Gly278Ser)" "7" "0001047416" "00003315" "90" "730" "0" "730" "0" "c.730T>C" "r.(?)" "p.(Tyr244His)" "6" "0001047417" "00003315" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "8" "0001047418" "00003315" "90" "808" "0" "821" "0" "c.808_821del" "p.Ser270_Leu274del" "p.(Asp271CysfsTer25)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 68 "{{screeningid}}" "{{variantid}}" "0000295378" "0000652067" "0000295379" "0000652068" "0000295380" "0000652069" "0000296517" "0000653206" "0000297720" "0000660374" "0000387731" "0000815865" "0000439774" "0000935903" "0000439774" "0000936030" "0000448473" "0000957952" "0000451918" "0000985835" "0000452067" "0000986019" "0000452965" "0000987407" "0000452965" "0000987408" "0000453234" "0000987773" "0000453242" "0000987788" "0000453242" "0000987789" "0000453248" "0000987796" "0000467895" "0001047305" "0000467896" "0001047306" "0000467897" "0001047307" "0000467898" "0001047308" "0000467899" "0001047309" "0000467900" "0001047310" "0000467901" "0001047311" "0000467902" "0001047312" "0000467903" "0001047313" "0000467904" "0001047314" "0000467905" "0001047315" "0000467906" "0001047316" "0000467907" "0001047317" "0000467908" "0001047318" "0000467924" "0001047338" "0000467924" "0001047339" "0000467924" "0001047340" "0000467934" "0001047349" "0000467935" "0001047350" "0000467936" "0001047351" "0000467937" "0001047352" "0000467938" "0001047353" "0000467939" "0001047354" "0000467940" "0001047355" "0000467942" "0001047361" "0000467943" "0001047362" "0000467947" "0001047366" "0000467948" "0001047367" "0000467952" "0001047371" "0000467952" "0001047387" "0000467953" "0001047372" "0000467953" "0001047390" "0000467955" "0001047374" "0000467957" "0001047376" "0000467958" "0001047377" "0000467959" "0001047378" "0000467959" "0001047393" "0000467960" "0001047379" "0000467963" "0001047382" "0000467964" "0001047383" "0000467970" "0001047401" "0000467970" "0001047414" "0000467971" "0001047402" "0000467971" "0001047415" "0000467972" "0001047403" "0000467972" "0001047416" "0000467973" "0001047404" "0000467973" "0001047417" "0000467974" "0001047405" "0000467975" "0001047406" "0000467975" "0001047418"