### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DBT) # 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}}" "DBT" "dihydrolipoamide branched chain transacylase E2" "1" "p31" "unknown" "NC_000001.10" "UD_132118263567" "" "https://www.LOVD.nl/DBT" "" "1" "2698" "1629" "248610" "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/DBT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-08-11 13:53:54" "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}}" "00006124" "DBT" "dihydrolipoamide branched chain transacylase E2" "001" "NM_001918.2" "" "NP_001909.2" "" "" "" "-33" "10782" "1449" "100715409" "100652478" "" "0000-00-00 00:00:00" "" "" "00026004" "DBT" "mRNA" "000" "NM_001918.3" "" "NP_001909.3" "" "" "" "-33" "10798" "1449" "1" "1" "00006" "2025-08-11 13:54:57" "" "" ## 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" "07084" "MSUD2" "maple syrup urine disease, type II" "AR" "620699" "" "" "" "00006" "2024-05-25 09:42:47" "" "" "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}}" "DBT" "00139" "DBT" "07084" ## Individuals ## Do not remove or alter this header ## ## Count = 41 "{{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}}" "00289460" "" "" "" "85" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289461" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304130" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00451439" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (sister affected: died at 05m)" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-027" "00451636" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-076" "00451637" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Likely consanguinity. Co-occurrence of two different monogenic diseases." "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-069" "00451645" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-081" "00451652" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (sister affected: died at 01m)" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-092" "00451653" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Family case (affected maternal aunt and uncle)" "M" "yes" "Mexico" "" "" "" "" "Mexican" "3bINP-094" "00451662" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-104" "00452260" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00466213" "" "" "" "1" "" "00006" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "Pat3" "00466219" "" "" "" "1" "" "00006" "{PMID:Tsurata 1998:9621512}, {DOI:Tsurata 1998:10.1007/s100380050047}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Japan" "" "0" "" "" "" "KM03" "00466220" "" "" "" "1" "" "00006" "{PMID:Tsurata 1998:9621512}, {DOI:Tsurata 1998:10.1007/s100380050047}" "2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents" "M" "likely" "Japan" "" "0" "" "" "" "KM24" "00466221" "" "" "" "1" "" "00006" "{PMID:Tsurata 1998:9621512}, {DOI:Tsurata 1998:10.1007/s100380050047}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" "" "0" "" "" "" "KM05" "00466226" "" "" "" "1" "" "00006" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "2-generation family, 1 affected, unaffected parents" "" "" "Turkey" "" "0" "" "" "" "Pat5" "00466253" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat23" "00466254" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat24" "00466255" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat25" "00466256" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat26" "00466257" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat27" "00466258" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat28" "00466259" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat29" "00466260" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat30" "00466261" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat31" "00466262" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat32" "00466263" "" "" "" "1" "" "00006" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Egypt" "" "0" "" "" "" "Pat33" "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" "00466269" "" "" "" "2" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "yes" "Jordan" "" "0" "" "" "" "Pat6" "00466274" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466275" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466276" "" "" "" "1" "" "00006" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "control" "" "" "Jordan" "" "0" "" "" "" "" "00466288" "" "" "" "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" "" "" "" "Pat3" "00466293" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Spain" "" "0" "" "" "" "msud004" "00466294" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Turkey" "" "0" "" "" "" "msud005" "00466296" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Spain" "" "0" "" "" "" "msud007" "00466300" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germany" "" "0" "" "" "" "msud011" "00466306" "" "" "" "1" "" "00006" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "France" "" "0" "" "" "" "msud019" "00466320" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat30" "00466321" "" "" "" "1" "" "00006" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germany" "" "0" "" "" "" "Pat9" "00466326" "" "" "" "1" "" "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 = 41 "{{individualid}}" "{{diseaseid}}" "00289460" "00198" "00289461" "00198" "00304130" "00198" "00451439" "07084" "00451636" "07084" "00451637" "00057" "00451645" "07084" "00451652" "07084" "00451653" "07084" "00451662" "00057" "00452260" "00198" "00466213" "00198" "00466219" "07171" "00466220" "07171" "00466221" "07171" "00466226" "07171" "00466253" "07171" "00466254" "07171" "00466255" "07171" "00466256" "07171" "00466257" "07171" "00466258" "07171" "00466259" "07171" "00466260" "07171" "00466261" "07171" "00466262" "07171" "00466263" "07171" "00466268" "07171" "00466269" "07171" "00466274" "00000" "00466275" "00000" "00466276" "00000" "00466288" "07171" "00466293" "07171" "00466294" "07171" "00466296" "07171" "00466300" "07171" "00466306" "07171" "00466320" "07171" "00466321" "07171" "00466326" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00057, 00139, 00198, 07084, 07171 ## Count = 34 "{{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}}" "0000340188" "07084" "00451439" "04221" "Familial, autosomal recessive" "" "Hypoglycemia, short stature, hip dysplasia" "" "00y00m10d" "" "" "" "" "" "" "Maple syrup urine disease, type II" "\'Maple syrup urine disease" "" "0000340297" "07084" "00451636" "04221" "Familial, autosomal recessive" "" "Severe intellectual disability, Seizures, Opisthotonus" "" "01y04m" "" "" "" "" "" "" "Maple syrup urine disease, type II" "Maple syrup urine disease" "" "0000340298" "00057" "00451637" "04221" "Familial, autosomal recessive" "" "Global developmental delay, Spasticity, Amblyopia" "" "00y03m" "03y06m" "" "" "" "" "" "Maple syrup urine disease, type II" "Maple syrup urine disease" "" "0000340306" "07084" "00451645" "04221" "Familial, autosomal recessive" "" "Global developmental delay, Spasticity" "" "00y05m" "" "" "" "" "" "" "Maple syrup urine disease, type II" "Maple syrup urine disease" "" "0000340313" "07084" "00451652" "04221" "Familial, autosomal recessive" "" "Severe intellectual disability, Seizures, Spasticity, Dermatosis" "" "00y01m" "" "" "" "" "" "" "Maple syrup urine disease, type II" "Maple syrup urine disease" "" "0000340314" "07084" "00451653" "04221" "Familial, autosomal recessive" "" "Severe intellectual disability, Central hypothyroidism, Bilateral cryptorchidism" "" "08y" "" "" "" "" "" "" "Maple syrup urine disease, type II" "Maple syrup urine disease" "" "0000340323" "00057" "00451662" "04221" "Familial, autosomal recessive" "" "Global developmental delay" "" "00y03m" "" "" "" "" "" "" "MSUD1A: Maple syrup urine disease, type II" "Maple syrup urine disease" "" "0000340863" "00198" "00452260" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351595" "00198" "00466213" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., maple syrup urine disease" "" "1y" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351601" "07171" "00466219" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351602" "07171" "00466220" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351603" "07171" "00466221" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., intermittent episodes of ketoacidosis" "02y" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351608" "07171" "00466226" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351636" "07171" "00466253" "00006" "Familial, autosomal recessive" "0.5y" "severe; classic MSUD who was admitted to NICU on the seventh day for 2.5 months and was ventilated. At the age of 4 months, she was admitted to PICU, put on ventilator and was diagnosed as a patient of MSUD. She died at age of 6 months." "7d" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351637" "07171" "00466254" "00006" "Familial, autosomal recessive" "4.2y" "severe; classic MSUD, she was normal till the age of 3 days then she developed poor suckling, excessive crying, irritability, convulsions. At the age of 9 months, Ms/Ms was diagnostic for MSUD. She had frequent hospital readmissions." "3d" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351638" "07171" "00466255" "00006" "Familial, autosomal recessive" "7.1y" "severe; classic MSUD with deterioration to coma and a lengthy admission to NICU and ventilation. He was diagnosed as MSUD at 45 days. He had multiple hospital readmissions for metabolic crisis." "7d" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351639" "07171" "00466256" "00006" "Familial, autosomal recessive" "6.1y" "moderate; asymptomatic She was diagnosed on second day by NBS program due to previous sib diagnosed with MSUD (P25) with no history of hospital admissions. At the age of 3 year, she was admitted to hospital for 1 week due to metabolic decompensation." "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351640" "07171" "00466257" "00006" "Familial, autosomal recessive" "1.3y" "severe; classic MSUD with deterioration and NICU admission and ventilation. He was diagnosed at the age of 2 month and started treatment. No available follow up after the age of 4 months." "10d" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351641" "07171" "00466258" "00006" "Familial, autosomal recessive" "3.5y" "moderate; classic MSUD with deterioration to coma and admission to NICU with ventilation. He had convulsion sine two weeks of age." "3d" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351642" "07171" "00466259" "00006" "Familial, autosomal recessive" "7.5y" "classic MSUD with rapid deterioration to coma and lengthy NICU admission with ventilation for 60 days. No history of hospital readmission for metabolic decompensation from diagnosis till now." "4d" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351643" "07171" "00466260" "00006" "Familial, autosomal recessive" "5.5y" "classic MSUD with deterioration to coma and admission to NICU with ventilation. No history of hospital readmission for metabolic decompensation from diagnosis till now." "3d" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351644" "07171" "00466261" "00006" "Familial, autosomal recessive" "1.3y" "classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had no hospital readmission from diagnosis till now." "4d" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351645" "07171" "00466262" "00006" "Familial, autosomal recessive" "11.5y" "mild; asymptomatic classic MSUD that was diagnosed since birth by NBS program due to family history of previous sib death. She had no history of hospital readmission with metabolic crisis. Previous sib deaths due to late diagnosis of MSUD were at the age of 1.5 and 2 months, respectively." "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351646" "07171" "00466263" "00006" "Familial, autosomal recessive" "5.8y" "severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had three hospital readmissions with metabolic crisis from diagnosis till now." "5d" "" "" "" "" "" "" "" "MSUD2" "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" "" "0000351652" "07171" "00466269" "00006" "Familial, autosomal recessive" "8y" "poor feeding and convulsions at presentation, later follow up moderate developmental delay; MSUD deceased sib" "" "3d" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351656" "07171" "00466288" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351661" "07171" "00466293" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351662" "07171" "00466294" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351664" "07171" "00466296" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD1B" "maple syrup urine disease" "" "0000351668" "07171" "00466300" "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" "" "0000351688" "07171" "00466320" "00006" "Familial, autosomal recessive" "" "classical MSUD" "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" "0000351689" "07171" "00466321" "00006" "Familial, autosomal recessive" "" "mild MSUD" "" "" "" "" "" "" "" "" "MSUD2" "maple syrup urine disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 41 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000290628" "00289460" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290629" "00289461" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305259" "00304130" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000453039" "00451439" "1" "04221" "04221" "2024-06-04 00:56:58" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453238" "00451636" "1" "04221" "04221" "2024-06-17 22:15:31" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453239" "00451637" "1" "04221" "04221" "2024-06-18 00:00:57" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453249" "00451645" "1" "04221" "04221" "2024-06-20 20:18:41" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453256" "00451652" "1" "04221" "04221" "2024-06-21 20:48:22" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453257" "00451653" "1" "04221" "04221" "2024-06-21 20:55:29" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453266" "00451662" "1" "04221" "04221" "2024-06-24 04:33:20" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453862" "00452260" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000467869" "00466213" "1" "00006" "00006" "2025-08-11 12:22:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000467875" "00466219" "1" "00006" "00006" "2025-08-11 18:53:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000467876" "00466220" "1" "00006" "00006" "2025-08-11 19:00:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000467877" "00466221" "1" "00006" "00006" "2025-08-11 19:13:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000467882" "00466226" "1" "00006" "00006" "2025-08-11 20:40:13" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000467909" "00466253" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467910" "00466254" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467911" "00466255" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467912" "00466256" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467913" "00466257" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467914" "00466258" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467915" "00466259" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467916" "00466260" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467917" "00466261" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467918" "00466262" "1" "00006" "00006" "2025-08-12 16:24:44" "" "" "SEQ" "DNA" "" "" "0000467919" "00466263" "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" "" "" "0000467925" "00466269" "1" "00006" "00006" "2025-08-13 09:58:04" "" "" "SEQ" "DNA" "" "" "0000467930" "00466274" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467931" "00466275" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467932" "00466276" "1" "00006" "00006" "2025-08-13 11:03:07" "" "" "SEQ" "DNA" "" "" "0000467944" "00466288" "1" "00006" "00006" "2025-08-14 12:11:02" "" "" "SEQ" "DNA" "" "" "0000467949" "00466293" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467950" "00466294" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000467952" "00466296" "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" "" "" "0000467962" "00466306" "1" "00006" "00006" "2025-08-14 13:44:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000467976" "00466320" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467977" "00466321" "1" "00006" "00006" "2025-08-14 14:48:27" "" "" "SEQ" "DNA" "" "" "0000467982" "00466326" "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}}" "0000453039" "DBT" "0000453238" "DBT" "0000453239" "DBT" "0000453249" "DBT" "0000453256" "DBT" "0000453257" "DBT" "0000453266" "DBT" "0000453862" "DBT" "0000467869" "DBT" "0000467875" "DBT" "0000467876" "DBT" "0000467877" "DBT" "0000467882" "DBT" "0000467909" "DBT" "0000467910" "DBT" "0000467911" "DBT" "0000467912" "DBT" "0000467913" "DBT" "0000467914" "DBT" "0000467915" "DBT" "0000467916" "DBT" "0000467917" "DBT" "0000467918" "DBT" "0000467919" "DBT" "0000467924" "BCKDHB" "0000467924" "DBT" "0000467925" "DBT" "0000467930" "BCKDHA" "0000467931" "BCKDHA" "0000467932" "BCKDHA" "0000467944" "DBT" ## 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 = 91 "{{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}}" "0000245415" "0" "10" "1" "100681587" "100681587" "subst" "0.0086501" "02330" "DBT_000014" "g.100681587A>G" "" "" "" "DBT(NM_001918.3):c.724T>C (p.S242P), DBT(NM_001918.5):c.724T>C (p.S242P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100216031A>G" "" "benign" "" "0000250969" "0" "10" "1" "100681587" "100681587" "subst" "0.0086501" "02326" "DBT_000014" "g.100681587A>G" "" "" "" "DBT(NM_001918.3):c.724T>C (p.S242P), DBT(NM_001918.5):c.724T>C (p.S242P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100216031A>G" "" "benign" "" "0000252383" "0" "70" "1" "100680485" "100680485" "subst" "0.000117775" "02326" "DBT_000013" "g.100680485A>C" "" "" "" "DBT(NM_001918.3):c.827T>G (p.F276C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100214929A>C" "" "likely pathogenic" "" "0000255645" "0" "90" "1" "100696380" "100696380" "subst" "0" "01943" "DBT_000015" "g.100696380A>T" "" "" "" "DBT(NM_001918.3):c.342T>A (p.Y114*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100230824A>T" "" "pathogenic" "" "0000265202" "0" "30" "1" "100715393" "100715393" "subst" "4.06739E-6" "02330" "DBT_000018" "g.100715393C>G" "" "" "" "DBT(NM_001918.5):c.-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100249837C>G" "" "likely benign" "" "0000265203" "0" "30" "1" "100671866" "100671866" "del" "0" "02330" "DBT_000008" "g.100671866del" "" "" "" "DBT(NM_001918.5):c.1210-4delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100206310del" "" "likely benign" "" "0000265205" "0" "10" "1" "100671866" "100671866" "subst" "0" "02330" "DBT_000010" "g.100671866T>A" "" "" "" "DBT(NM_001918.5):c.1210-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100206310T>A" "" "benign" "" "0000265206" "0" "30" "1" "100662011" "100662015" "del" "0" "02330" "DBT_000001" "g.100662011_100662015del" "" "" "" "DBT(NM_001918.3):c.1282-14_1282-10delTTTTT, DBT(NM_001918.5):c.1282-14_1282-10delTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100196455_100196459del" "" "likely benign" "" "0000265207" "0" "30" "1" "100662010" "100662015" "del" "0" "02330" "DBT_000002" "g.100662010_100662015del" "" "" "" "DBT(NM_001918.3):c.1282-15_1282-10delTTTTTT, DBT(NM_001918.5):c.1282-15_1282-10delTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100196454_100196459del" "" "likely benign" "" "0000265208" "0" "10" "1" "100662012" "100662015" "del" "0" "02330" "DBT_000005" "g.100662012_100662015del" "" "" "" "DBT(NM_001918.3):c.1282-13_1282-10delTTTT, DBT(NM_001918.5):c.1282-13_1282-10delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100196456_100196459del" "" "benign" "" "0000265209" "0" "30" "1" "100662009" "100662015" "del" "0" "02330" "DBT_000003" "g.100662009_100662015del" "" "" "" "DBT(NM_001918.5):c.1282-16_1282-10delTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100196453_100196459del" "" "likely benign" "" "0000265213" "0" "50" "1" "100680440" "100680440" "subst" "8.12236E-6" "02330" "DBT_000012" "g.100680440C>T" "" "" "" "DBT(NM_001918.5):c.872G>A (p.R291Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100214884C>T" "" "VUS" "" "0000270678" "0" "30" "1" "100662092" "100662092" "subst" "0" "02326" "DBT_000007" "g.100662092G>A" "" "" "" "DBT(NM_001918.3):c.1282-114C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100196536G>A" "" "likely benign" "" "0000270679" "0" "30" "1" "100662010" "100662015" "del" "0" "02326" "DBT_000004" "g.100662010_100662015del" "" "" "" "DBT(NM_001918.3):c.1282-15_1282-10delTTTTTT, DBT(NM_001918.5):c.1282-15_1282-10delTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100196454_100196459del" "" "likely benign" "" "0000274750" "0" "30" "1" "100715361" "100715361" "subst" "0" "01943" "DBT_000017" "g.100715361T>A" "" "" "" "DBT(NM_001918.3):c.16A>T (p.M6L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100249805T>A" "" "likely benign" "" "0000320888" "0" "50" "1" "100676304" "100676304" "subst" "1.21854E-5" "01804" "DBT_000011" "g.100676304C>G" "" "" "" "DBT(NM_001918.3):c.963G>C (p.(Gln321His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100210748C>G" "" "VUS" "" "0000502196" "0" "30" "1" "100661842" "100661842" "subst" "0.00203672" "01943" "DBT_000019" "g.100661842T>C" "" "" "" "DBT(NM_001918.3):c.1418A>G (p.N473S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100196286T>C" "" "likely benign" "" "0000502197" "0" "30" "1" "100661982" "100661982" "subst" "0" "02326" "DBT_000020" "g.100661982G>T" "" "" "" "DBT(NM_001918.3):c.1282-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100196426G>T" "" "likely benign" "" "0000502198" "0" "10" "1" "100662008" "100662015" "del" "0" "02330" "DBT_000021" "g.100662008_100662015del" "" "" "" "DBT(NM_001918.5):c.1282-17_1282-10delTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100196452_100196459del" "" "benign" "" "0000502199" "0" "10" "1" "100662011" "100662015" "del" "0" "01943" "DBT_000001" "g.100662011_100662015del" "" "" "" "DBT(NM_001918.3):c.1282-14_1282-10delTTTTT, DBT(NM_001918.5):c.1282-14_1282-10delTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100196455_100196459del" "" "benign" "" "0000502200" "0" "10" "1" "100662014" "100662015" "del" "0" "02330" "DBT_000022" "g.100662014_100662015del" "" "" "" "DBT(NM_001918.5):c.1282-11_1282-10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100196458_100196459del" "" "benign" "" "0000502201" "0" "10" "1" "100671865" "100671866" "ins" "0" "02330" "DBT_000023" "g.100671865_100671866insA" "" "" "" "DBT(NM_001918.3):c.1210-9_1210-8insT, DBT(NM_001918.5):c.1210-9_1210-8insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206309_100206310insA" "" "benign" "" "0000502202" "0" "10" "1" "100671865" "100671866" "ins" "0" "02326" "DBT_000023" "g.100671865_100671866insA" "" "" "" "DBT(NM_001918.3):c.1210-9_1210-8insT, DBT(NM_001918.5):c.1210-9_1210-8insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206309_100206310insA" "" "benign" "" "0000502203" "0" "10" "1" "100671867" "100671867" "subst" "0" "02330" "DBT_000024" "g.100671867A>T" "" "" "" "DBT(NM_001918.3):c.1210-10T>A, DBT(NM_001918.5):c.1210-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206311A>T" "" "benign" "" "0000502204" "0" "10" "1" "100671867" "100671867" "subst" "0" "02326" "DBT_000024" "g.100671867A>T" "" "" "" "DBT(NM_001918.3):c.1210-10T>A, DBT(NM_001918.5):c.1210-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206311A>T" "" "benign" "" "0000502205" "0" "30" "1" "100671879" "100671879" "del" "0" "02330" "DBT_000025" "g.100671879del" "" "" "" "DBT(NM_001918.3):c.1210-10delT, DBT(NM_001918.5):c.1210-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206323del" "" "likely benign" "" "0000502206" "0" "10" "1" "100671879" "100671879" "del" "0" "01943" "DBT_000025" "g.100671879del" "" "" "" "DBT(NM_001918.3):c.1210-10delT, DBT(NM_001918.5):c.1210-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206323del" "" "benign" "" "0000502207" "0" "30" "1" "100671879" "100671879" "dup" "0" "02330" "DBT_000026" "g.100671879dup" "" "" "" "DBT(NM_001918.5):c.1210-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206323dup" "" "likely benign" "" "0000502209" "0" "10" "1" "100672060" "100672060" "subst" "0.917884" "02330" "DBT_000028" "g.100672060T>C" "" "" "" "DBT(NM_001918.3):c.1150A>G (p.S384G), DBT(NM_001918.5):c.1150A>G (p.S384G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206504T>C" "" "benign" "" "0000502210" "0" "10" "1" "100672060" "100672060" "subst" "0.917884" "02325" "DBT_000028" "g.100672060T>C" "" "" "" "DBT(NM_001918.3):c.1150A>G (p.S384G), DBT(NM_001918.5):c.1150A>G (p.S384G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206504T>C" "" "benign" "" "0000502211" "0" "10" "1" "100672060" "100672060" "subst" "0.917884" "02326" "DBT_000028" "g.100672060T>C" "" "" "" "DBT(NM_001918.3):c.1150A>G (p.S384G), DBT(NM_001918.5):c.1150A>G (p.S384G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100206504T>C" "" "benign" "" "0000502212" "0" "10" "1" "100681558" "100681558" "subst" "0.00144182" "02330" "DBT_000029" "g.100681558G>A" "" "" "" "DBT(NM_001918.3):c.753C>T (p.D251=), DBT(NM_001918.5):c.753C>T (p.D251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100216002G>A" "" "benign" "" "0000502213" "0" "10" "1" "100681596" "100681596" "subst" "0.00808122" "02330" "DBT_000030" "g.100681596T>C" "" "" "" "DBT(NM_001918.5):c.715A>G (p.I239V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100216040T>C" "" "benign" "" "0000502214" "0" "10" "1" "100696395" "100696395" "subst" "0.000890179" "02330" "DBT_000031" "g.100696395G>A" "" "" "" "DBT(NM_001918.3):c.327C>T (p.T109=), DBT(NM_001918.5):c.327C>T (p.T109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100230839G>A" "" "benign" "" "0000502215" "0" "30" "1" "100696395" "100696395" "subst" "0.000890179" "01943" "DBT_000031" "g.100696395G>A" "" "" "" "DBT(NM_001918.3):c.327C>T (p.T109=), DBT(NM_001918.5):c.327C>T (p.T109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100230839G>A" "" "likely benign" "" "0000502216" "0" "30" "1" "100696395" "100696395" "subst" "0.000890179" "02326" "DBT_000031" "g.100696395G>A" "" "" "" "DBT(NM_001918.3):c.327C>T (p.T109=), DBT(NM_001918.5):c.327C>T (p.T109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100230839G>A" "" "likely benign" "" "0000502217" "0" "30" "1" "100700978" "100700978" "dup" "0" "02330" "DBT_000032" "g.100700978dup" "" "" "" "DBT(NM_001918.5):c.251+19dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100235422dup" "" "likely benign" "" "0000604605" "0" "30" "1" "100662012" "100662015" "del" "0" "01943" "DBT_000005" "g.100662012_100662015del" "" "" "" "DBT(NM_001918.3):c.1282-13_1282-10delTTTT, DBT(NM_001918.5):c.1282-13_1282-10delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100196456_100196459del" "" "likely benign" "" "0000604606" "0" "30" "1" "100681558" "100681558" "subst" "0.00144182" "01943" "DBT_000029" "g.100681558G>A" "" "" "" "DBT(NM_001918.3):c.753C>T (p.D251=), DBT(NM_001918.5):c.753C>T (p.D251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100216002G>A" "" "likely benign" "" "0000647317" "1" "30" "1" "100656939" "100656939" "subst" "0" "03575" "DBT_000033" "g.100656939T>C" "85/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "85 heterozygous; {DB:CLININrs12044663}" "Germline" "" "rs12044663" "0" "" "" "g.100191383T>C" "" "likely benign" "" "0000647318" "1" "30" "1" "100681587" "100681587" "subst" "0.0086501" "03575" "DBT_000014" "g.100681587A>G" "21/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs146249007}" "Germline" "" "rs146249007" "0" "" "" "g.100216031A>G" "" "likely benign" "" "0000668947" "3" "30" "1" "100656939" "100656939" "subst" "0" "03575" "DBT_000033" "g.100656939T>C" "1/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs12044663}" "Germline" "" "rs12044663" "0" "" "" "g.100191383T>C" "" "likely benign" "" "0000675380" "0" "30" "1" "100661982" "100661982" "subst" "0" "01943" "DBT_000020" "g.100661982G>T" "" "" "" "DBT(NM_001918.3):c.1282-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687790" "0" "50" "1" "100672110" "100672110" "subst" "0" "01943" "DBT_000034" "g.100672110A>T" "" "" "" "DBT(NM_001918.3):c.1100T>A (p.I367K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798628" "0" "70" "1" "100681538" "100681538" "subst" "0" "01943" "DBT_000035" "g.100681538C>T" "" "" "" "DBT(NM_001918.3):c.772+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000987538" "3" "90" "1" "100684307" "100684318" "del" "2.03143E-5" "04221" "DBT_000036" "g.100684307_100684318del" "2/97 patients" "" "" "" "Confirmed by Sanger sequencing. Another patient (with the same phenotype) showed the same variant in heterozygous state; Sajeev 2021:34069211, Chuang 1997:9239422" "Germline" "yes" "rs727503895" "0" "" "" "g.100218751_100218762del" "{CV:166983}" "pathogenic (recessive)" "ACMG" "0000987778" "3" "50" "1" "100671860" "100671860" "subst" "0" "04221" "DBT_000039" "g.100671860A>T" "" "" "" "" "Additional phenotype information, segregation\r\ninformation and/or functional analysis may provide further evidence to reclassify the variant." "Germline" "yes" "" "0" "" "" "g.100206304A>T" "{CV:1906704}" "VUS" "ACMG" "0000987779" "3" "90" "1" "100706416" "100706417" "del" "7.32088E-5" "04221" "DBT_000037" "g.100706416_100706417del" "" "" "" "" "This variant that is responsible of \'Maple syrup urine disease, type II\', was identified in co-occurrence with the ABCA4 homozygous pathogenic variant NM_000350.3:c.2453G>A, p.p.Gly818Glu, causing ABCA4-related disorder; Imtiaz 2017:28417071, Hjelm 2010:20639189, Rodríguez-Pombo 2006:16786533" "Germline" "yes" "rs768832921" "0" "" "" "g.100240860_100240861del" "{CV:11950}" "pathogenic (recessive)" "ACMG" "0000987797" "1" "90" "1" "100681641" "100681641" "subst" "6.49746E-5" "04221" "DBT_000040" "g.100681641C>A" "" "{PMID:Vela-Amieva 2024:39519275}" "" "" "Khalifa 2020:32812330, Rodríguez-Pombo 2006:16786533, Homanics 2006:16579849" "Germline" "yes" "rs74103423" "0" "" "" "g.100216085C>A" "{CV:94009}" "pathogenic (recessive)" "ACMG" "0000987798" "2" "90" "1" "100684307" "100684318" "del" "2.03143E-5" "04221" "DBT_000036" "g.100684307_100684318del" "2/97 patients" "{PMID:Vela-Amieva 2024:39519275}" "" "" "another patient (same phenotype) showed same variant in homozygous state" "Germline" "yes" "rs727503895" "0" "" "" "g.100218751_100218762del" "{CV:166983}" "pathogenic (recessive)" "ACMG" "0000987812" "3" "90" "1" "100706416" "100706417" "del" "7.32088E-5" "04221" "DBT_000037" "g.100706416_100706417del" "" "" "" "" "Imtiaz 2017:28417071, Hjelm 2010:20639189, Rodríguez-Pombo 2006:16786533" "Germline" "yes" "rs768832921" "0" "" "" "g.100240860_100240861del" "{CV:11950}" "pathogenic (recessive)" "ACMG" "0000987813" "3" "50" "1" "100671806" "100671806" "subst" "8.1244E-6" "04221" "DBT_000038" "g.100671806C>A" "" "" "" "" "Additional phenotype information, segregation information and/or functional analysis may provide further evidence to reclassify the variant; Adhikari 2020:32778825" "Germline" "yes" "rs796051945" "0" "" "" "g.100206250C>A" "{CV:203669}" "VUS" "ACMG" "0000987827" "3" "70" "1" "100696460" "100696462" "del" "0" "04221" "DBT_000041" "g.100696460_100696462del" "" "" "" "" "This variant was classified as per ACMG guidelines (Richards et al 2015) and the recently developed ACMG scoring system (Tavtigian et al 2020). Nguyen et al 2020 reported a Vietnamese pediatric patient with maple sirup who presents this same variant in homozygous state (PMID:32515140). In silico analysis shows that the microdeletion occurs in the functional domain PLN02528 (2-oxoisovalerate dehydrogenase E2 component). The MutPred-indel program predicts it as deleterious: sp P11182 ODB2_HUMAN Lipoamide acyltransferase component: 0.7621 (>0.5 = deleterious) NA - The CADD program predicts it as also as deleterious: 21.0 (score \"threshold\" for deleterious >20). The Glu at position 88 of the DBT protein is evolutionarily conserved from human to C.elegans; Adhikari 2020:32778825," "Germline" "yes" "rs1217050849" "0" "" "" "g.100230904_100230906del" "{CV:527136}" "likely pathogenic (recessive)" "ACMG" "0000988624" "3" "70" "1" "100672078" "100672078" "subst" "4.06075E-6" "00006" "DBT_000042" "g.100672078G>A" "2/2 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.100206522G>A" "" "likely pathogenic" "" "0000990045" "0" "30" "1" "100680413" "100680413" "subst" "5.27979E-5" "01804" "DBT_000043" "g.100680413G>A" "" "" "" "DBT(NM_001918.3):c.899C>T (p.(Ala300Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990046" "0" "90" "1" "100701039" "100701039" "del" "0" "02327" "DBT_000044" "g.100701039del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001047268" "21" "70" "1" "100680485" "100680485" "subst" "0.000117775" "00006" "DBT_000013" "g.100680485A>C" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "" "Germline" "" "" "0" "" "" "g.100214929A>C" "" "likely pathogenic (recessive)" "ACMG" "0001047269" "11" "90" "1" "100672742" "100672742" "subst" "0" "00006" "DBT_000045" "g.100672742T>C" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "variant causes allelic expression imbalance" "Germline" "" "" "0" "" "" "g.100207186T>C" "" "pathogenic (recessive)" "" "0001047277" "3" "90" "1" "100672742" "100672742" "subst" "0" "00006" "DBT_000045" "g.100672742T>C" "" "{PMID:Tsurata 1998:9621512}, {DOI:Tsurata 1998:10.1007/s100380050047}" "" "" "0.09 decarboxylation activity" "Germline" "" "" "0" "" "" "g.100207186T>C" "" "pathogenic (recessive)" "" "0001047278" "3" "90" "1" "100661812" "100661812" "subst" "0" "00006" "DBT_000046" "g.100661812C>A" "" "{PMID:Tsurata 1998:9621512}, {DOI:Tsurata 1998:10.1007/s100380050047}" "" "1463G>T (X422L)" "0.20 decarboxylation activity" "Germline" "" "" "0" "" "" "g.100196256C>A" "" "pathogenic (recessive)" "" "0001047279" "1" "90" "1" "100696428" "100696428" "subst" "0" "00006" "DBT_000047" "g.100696428G>C" "" "{PMID:Tsurata 1998:9621512}, {DOI:Tsurata 1998:10.1007/s100380050047}" "" "309C>G (I37M)" "0.09 decarboxylation activity" "Germline" "" "" "0" "" "" "g.100230872G>C" "" "pathogenic (recessive)" "" "0001047280" "2" "90" "1" "100672060" "100672060" "subst" "0.917884" "00006" "DBT_000028" "g.100672060T>C" "" "{PMID:Tsurata 1998:9621512}, {DOI:Tsurata 1998:10.1007/s100380050047}" "" "1165G>A (G323S)" "variant originally reported as pathogenic" "Germline" "" "" "0" "" "" "g.100206504T>C" "" "benign (!)" "" "0001047285" "3" "90" "1" "100701068" "100701068" "subst" "0" "00006" "DBT_000048" "g.100701068C>T" "" "{PMID:Dursun 2002:12118532}, {DOI:Dursun 2002:10.1023/a:1015668425004}" "" "IVS3-1G>A" "" "Germline" "" "" "0" "" "" "g.100235512C>T" "" "pathogenic (recessive)" "" "0001047319" "3" "70" "1" "100661969" "100661969" "subst" "8.59055E-6" "00006" "DBT_000051" "g.100661969G>A" "10/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs398123660" "0" "" "" "g.100196413G>A" "" "likely pathogenic (recessive)" "" "0001047320" "3" "70" "1" "100661969" "100661969" "subst" "8.59055E-6" "00006" "DBT_000051" "g.100661969G>A" "10/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs398123660" "0" "" "" "g.100196413G>A" "" "likely pathogenic (recessive)" "" "0001047321" "3" "70" "1" "100661969" "100661969" "subst" "8.59055E-6" "00006" "DBT_000051" "g.100661969G>A" "10/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs398123660" "0" "" "" "g.100196413G>A" "" "likely pathogenic (recessive)" "" "0001047322" "3" "70" "1" "100661969" "100661969" "subst" "8.59055E-6" "00006" "DBT_000051" "g.100661969G>A" "10/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs398123660" "0" "" "" "g.100196413G>A" "" "likely pathogenic (recessive)" "" "0001047323" "3" "70" "1" "100661969" "100661969" "subst" "8.59055E-6" "00006" "DBT_000051" "g.100661969G>A" "10/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs398123660" "0" "" "" "g.100196413G>A" "" "likely pathogenic (recessive)" "" "0001047324" "3" "90" "1" "100681641" "100681641" "subst" "6.49746E-5" "00006" "DBT_000040" "g.100681641C>A" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs74103423" "0" "" "" "g.100216085C>A" "" "pathogenic (recessive)" "" "0001047325" "3" "90" "1" "100681641" "100681641" "subst" "6.49746E-5" "00006" "DBT_000040" "g.100681641C>A" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs74103423" "0" "" "" "g.100216085C>A" "" "pathogenic (recessive)" "" "0001047326" "3" "90" "1" "100681641" "100681641" "subst" "6.49746E-5" "00006" "DBT_000040" "g.100681641C>A" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs74103423" "0" "" "" "g.100216085C>A" "" "pathogenic (recessive)" "" "0001047327" "3" "90" "1" "100681641" "100681641" "subst" "6.49746E-5" "00006" "DBT_000040" "g.100681641C>A" "8/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "rs74103423" "0" "" "" "g.100216085C>A" "" "pathogenic (recessive)" "" "0001047328" "3" "90" "1" "100715347" "100715347" "subst" "0" "00006" "DBT_000059" "g.100715347C>T" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "" "" "Germline" "" "" "0" "" "" "g.100249791C>T" "" "pathogenic (recessive)" "" "0001047329" "3" "90" "1" "100701002" "100701003" "del" "0" "00006" "DBT_000058" "g.100701002_100701003del" "2/66 alleles MSUD" "{PMID:Khalifa 2020:32812330}, {DOI:Khalifa 2020:10.1002/ajmg.a.61806}" "" "241_242delGT" "" "Germline" "" "" "0" "" "" "g.100235446_100235447del" "" "pathogenic (recessive)" "" "0001047334" "3" "90" "1" "100680525" "100680525" "subst" "0" "00006" "DBT_000056" "g.100680525T>A" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.100214969T>A" "" "pathogenic (recessive)" "" "0001047335" "3" "90" "1" "100672153" "100672153" "subst" "4.06108E-6" "00006" "DBT_000053" "g.100672153C>T" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs578139656" "0" "" "" "g.100206597C>T" "" "pathogenic (recessive)" "" "0001047345" "0" "10" "19" "41928652" "41928652" "subst" "0.592076" "00006" "BCKDHA_000018" "g.41928652C>T" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs284652" "0" "" "" "g.41422747C>T" "" "benign" "" "0001047346" "0" "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" "" "0001047347" "0" "10" "19" "41928724" "41928724" "subst" "0.583741" "00006" "DBT_000001" "g.41928724G>A" "" "{DOI:Jaradat 2016:10.1016/j.mgene.2015.10.002}" "" "" "" "Germline" "" "rs284654" "0" "" "" "g.41422819G>A" "" "benign" "" "0001047363" "3" "90" "1" "100661928" "100661931" "del" "0" "00006" "DBT_000050" "g.100661928_100661931del" "" "{PMID:Jaafar 2013:23313820}, {DOI:Jaafar 2013:10.1016/j.gene.2012.12.097}" "" "1333_1336delAATG" "" "Germline" "" "" "0" "" "" "g.100196372_100196375del" "" "pathogenic (recessive)" "" "0001047368" "1" "90" "1" "100706416" "100706417" "del" "7.32088E-5" "00006" "DBT_000037" "g.100706416_100706417del" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "75_76delAT" "" "Germline" "" "" "0" "" "" "g.100240860_100240861del" "" "pathogenic (recessive)" "" "0001047369" "3" "90" "1" "100676328" "100676328" "subst" "0" "00006" "DBT_000054" "g.100676328C>T" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity 0.03" "Germline" "" "" "0" "" "" "g.100210772C>T" "" "pathogenic (recessive)" "" "0001047381" "1" "90" "1" "100661974" "100661974" "subst" "0" "00006" "DBT_000052" "g.100661974A>T" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity 0.65" "Germline" "" "" "0" "" "" "g.100196418A>T" "" "pathogenic (recessive)" "" "0001047385" "2" "90" "1" "100680485" "100680485" "subst" "0.000117775" "00006" "DBT_000013" "g.100680485A>C" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "" "Germline" "" "" "0" "" "" "g.100214929A>C" "" "pathogenic (recessive)" "" "0001047388" "0" "30" "1" "100672060" "100672060" "subst" "0.917884" "00006" "DBT_000028" "g.100672060T>C" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "1150G>A (G384S)" "enzyme activity <0.05" "Germline" "" "" "0" "" "" "g.100206504T>C" "" "likely benign" "" "0001047391" "3" "30" "1" "100672060" "100672060" "subst" "0.917884" "00006" "DBT_000028" "g.100672060T>C" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "1151G>A (G384S)" "enzyme activity <0.05" "Germline" "" "" "0" "" "" "g.100206504T>C" "" "likely benign" "" "0001047394" "2" "90" "1" "100661924" "100661924" "subst" "0" "00006" "DBT_000049" "g.100661924C>T" "" "{PMID:Henneke 2003:14517957}, {DOI:Henneke 2003:10.1002/humu.9187}" "" "" "enzyme activity 0.65" "Germline" "" "" "0" "" "" "g.100196368C>T" "" "pathogenic (recessive)" "" "0001047407" "1" "90" "1" "100706416" "100706417" "del" "7.32088E-5" "00006" "DBT_000037" "g.100706416_100706417del" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "75_76delAT" "" "Germline" "" "" "0" "" "" "g.100240860_100240861del" "" "pathogenic (recessive)" "" "0001047408" "3" "90" "1" "100680543" "100681568" "del" "0" "00006" "DBT_000057" "g.100680543_100681568del" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.100214987_100216012del" "" "pathogenic (recessive)" "" "0001047413" "0" "10" "1" "100672060" "100672060" "subst" "0.917884" "00006" "DBT_000028" "g.100672060T>C" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "1150G>A (Gly384Ser)" "" "Germline" "" "rs12021720" "0" "" "" "g.100206504T>C" "" "benign" "" "0001047419" "2" "90" "1" "100680392" "100680392" "subst" "0" "00006" "DBT_000055" "g.100680392A>G" "" "{PMID:Flaschker 2007:17922217}, {DOI:Flaschker 2007:10.1007/s10545-007-0579-x}" "" "" "" "Germline" "" "" "0" "" "" "g.100214836A>G" "" "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 DBT ## Count = 101 "{{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}}" "0000245415" "00006124" "10" "724" "0" "724" "0" "c.724T>C" "r.(?)" "p.(Ser242Pro)" "" "0000250969" "00006124" "10" "724" "0" "724" "0" "c.724T>C" "r.(?)" "p.(Ser242Pro)" "" "0000252383" "00006124" "70" "827" "0" "827" "0" "c.827T>G" "r.(?)" "p.(Phe276Cys)" "" "0000255645" "00006124" "90" "342" "0" "342" "0" "c.342T>A" "r.(?)" "p.(Tyr114*)" "" "0000265202" "00006124" "30" "-17" "0" "-17" "0" "c.-17G>C" "r.(?)" "p.(=)" "" "0000265203" "00006124" "30" "1210" "-4" "1210" "-4" "c.1210-4del" "r.spl?" "p.?" "" "0000265205" "00006124" "10" "1210" "-9" "1210" "-9" "c.1210-9A>T" "r.(=)" "p.(=)" "" "0000265206" "00006124" "30" "1282" "-14" "1282" "-10" "c.1282-14_1282-10del" "r.(=)" "p.(=)" "" "0000265207" "00006124" "30" "1282" "-15" "1282" "-10" "c.1282-15_1282-10del" "r.(=)" "p.(=)" "" "0000265208" "00006124" "10" "1282" "-13" "1282" "-10" "c.1282-13_1282-10del" "r.(=)" "p.(=)" "" "0000265209" "00006124" "30" "1282" "-16" "1282" "-10" "c.1282-16_1282-10del" "r.(=)" "p.(=)" "" "0000265213" "00006124" "50" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291Gln)" "" "0000270678" "00006124" "30" "1282" "-114" "1282" "-114" "c.1282-114C>T" "r.(=)" "p.(=)" "" "0000270679" "00006124" "30" "1282" "-15" "1282" "-10" "c.1282-15_1282-10del" "r.(=)" "p.(=)" "" "0000274750" "00006124" "30" "16" "0" "16" "0" "c.16A>T" "r.(?)" "p.(Met6Leu)" "" "0000320888" "00006124" "50" "963" "0" "963" "0" "c.963G>C" "r.(?)" "p.(Gln321His)" "" "0000502196" "00006124" "30" "1418" "0" "1418" "0" "c.1418A>G" "r.(?)" "p.(Asn473Ser)" "" "0000502197" "00006124" "30" "1282" "-4" "1282" "-4" "c.1282-4C>A" "r.spl?" "p.?" "" "0000502198" "00006124" "10" "1282" "-17" "1282" "-10" "c.1282-17_1282-10del" "r.(=)" "p.(=)" "" "0000502199" "00006124" "10" "1282" "-14" "1282" "-10" "c.1282-14_1282-10del" "r.(=)" "p.(=)" "" "0000502200" "00006124" "10" "1282" "-11" "1282" "-10" "c.1282-11_1282-10del" "r.(=)" "p.(=)" "" "0000502201" "00006124" "10" "1210" "-9" "1210" "-8" "c.1210-9_1210-8insT" "r.(=)" "p.(=)" "" "0000502202" "00006124" "10" "1210" "-9" "1210" "-8" "c.1210-9_1210-8insT" "r.(=)" "p.(=)" "" "0000502203" "00006124" "10" "1210" "-10" "1210" "-10" "c.1210-10T>A" "r.(=)" "p.(=)" "" "0000502204" "00006124" "10" "1210" "-10" "1210" "-10" "c.1210-10T>A" "r.(=)" "p.(=)" "" "0000502205" "00006124" "30" "1210" "-10" "1210" "-10" "c.1210-10del" "r.(=)" "p.(=)" "" "0000502206" "00006124" "10" "1210" "-10" "1210" "-10" "c.1210-10del" "r.(=)" "p.(=)" "" "0000502207" "00006124" "30" "1210" "-10" "1210" "-10" "c.1210-10dup" "r.(=)" "p.(=)" "" "0000502209" "00006124" "10" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Ser384Gly)" "" "0000502210" "00006124" "10" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Ser384Gly)" "" "0000502211" "00006124" "10" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Ser384Gly)" "" "0000502212" "00006124" "10" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(=)" "" "0000502213" "00006124" "10" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Ile239Val)" "" "0000502214" "00006124" "10" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(=)" "" "0000502215" "00006124" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(=)" "" "0000502216" "00006124" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(=)" "" "0000502217" "00006124" "30" "251" "19" "251" "19" "c.251+19dup" "r.(=)" "p.(=)" "" "0000604605" "00006124" "30" "1282" "-13" "1282" "-10" "c.1282-13_1282-10del" "r.(=)" "p.(=)" "" "0000604606" "00006124" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(=)" "" "0000647317" "00026004" "30" "6321" "0" "6321" "0" "c.*4872A>G" "" "" "" "0000647317" "00006124" "30" "6321" "0" "6321" "0" "c.*4872A>G" "r.(=)" "p.(=)" "" "0000647318" "00026004" "30" "724" "0" "724" "0" "c.724T>C" "" "" "" "0000647318" "00006124" "30" "724" "0" "724" "0" "c.724T>C" "r.(?)" "p.(Ser242Pro)" "" "0000668947" "00026004" "30" "6321" "0" "6321" "0" "c.*4872A>G" "" "" "" "0000668947" "00006124" "30" "6321" "0" "6321" "0" "c.*4872A>G" "r.(=)" "p.(=)" "" "0000675380" "00006124" "30" "1282" "-4" "1282" "-4" "c.1282-4C>A" "r.spl?" "p.?" "" "0000687790" "00006124" "50" "1100" "0" "1100" "0" "c.1100T>A" "r.(?)" "p.(Ile367Lys)" "" "0000798628" "00006124" "70" "772" "1" "772" "1" "c.772+1G>A" "r.spl?" "p.?" "" "0000987538" "00006124" "90" "434" "-15" "434" "-4" "c.434-15_434-4del" "r.spl?" "p.?" "" "0000987778" "00006124" "50" "1210" "-3" "1210" "-3" "c.1210-3T>A" "r.spl?" "p.?" "" "0000987779" "00006124" "90" "75" "0" "76" "0" "c.75_76del" "r.(?)" "p.(Cys26Trpfs*2)" "2" "0000987797" "00006124" "90" "670" "0" "670" "0" "c.670G>T" "r.(?)" "p.(Glu224*)" "6" "0000987798" "00006124" "90" "434" "-15" "434" "-4" "c.434-15_434-4del" "r.spl?" "p.?" "6" "0000987812" "00006124" "90" "75" "0" "76" "0" "c.75_76del" "r.(?)" "p.(Cys26Trpfs*2)" "2" "0000987813" "00006124" "50" "1261" "0" "1261" "0" "c.1261G>T" "r.(?)" "p.(Gly421Trp)" "10" "0000987827" "00006124" "70" "263" "0" "265" "0" "c.263_265del" "r.(?)" "p.(Glu88del)" "4" "0000988624" "00006124" "70" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378Ter)" "" "0000990045" "00006124" "30" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Ala300Val)" "" "0000990046" "00006124" "90" "204" "0" "204" "0" "c.204del" "r.(?)" "p.(Lys68Asnfs*12)" "" "0001047268" "00026004" "70" "827" "0" "827" "0" "c.827T>G" "r.(?)" "p.(Phe276Cys)" "" "0001047268" "00006124" "70" "827" "0" "827" "0" "c.827T>G" "r.(?)" "p.(Phe276Cys)" "" "0001047269" "00026004" "90" "1018" "-550" "1018" "-550" "c.1018-550A>G" "r.1017_1018ins1018-676_1018-551" "p.fs*" "8i" "0001047269" "00006124" "90" "1018" "-550" "1018" "-550" "c.1018-550A>G" "r.1017_1018ins1018-676_1018-551" "p.fs*" "8i" "0001047277" "00026004" "90" "1018" "-550" "1018" "-550" "c.1018-550A>G" "r.1017_1018ins1018-676_1018-551" "p.Ala340TyrfsTer5" "8i" "0001047277" "00006124" "90" "1018" "-550" "1018" "-550" "c.1018-550A>G" "r.1017_1018ins1018-676_1018-551" "p.Ala340TyrfsTer5" "8i" "0001047278" "00026004" "90" "1448" "0" "1448" "0" "c.1448G>T" "r.1448G>T" "p.Ter483LeuextTer7" "11" "0001047278" "00006124" "90" "1448" "0" "1448" "0" "c.1448G>T" "r.1448G>T" "p.Ter483LeuextTer7" "11" "0001047279" "00026004" "90" "294" "0" "294" "0" "c.294C>G" "r.294C>G" "p.Ile98Met" "4" "0001047279" "00006124" "90" "294" "0" "294" "0" "c.294C>G" "r.294C>G" "p.Ile98Met" "4" "0001047280" "00026004" "90" "1150" "0" "1150" "0" "c.1150A>G" "r.1150A>G" "p.Ser384Gly" "9" "0001047280" "00006124" "90" "1150" "0" "1150" "0" "c.1150A>G" "r.1150A>G" "p.Ser384Gly" "9" "0001047285" "00026004" "90" "176" "-1" "176" "-1" "c.176-1G>A" "r.176_189del" "p.Ala59GlyfsTer14" "2i" "0001047285" "00006124" "90" "176" "-1" "176" "-1" "c.176-1G>A" "r.176_189del" "p.Ala59GlyfsTer14" "2i" "0001047319" "00006124" "70" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Ter)" "11" "0001047320" "00006124" "70" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Ter)" "11" "0001047321" "00006124" "70" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Ter)" "11" "0001047322" "00006124" "70" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Ter)" "11" "0001047323" "00006124" "70" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Ter)" "11" "0001047324" "00006124" "90" "670" "0" "670" "0" "c.670G>T" "r.(?)" "p.(Glu224Ter)" "6" "0001047325" "00006124" "90" "670" "0" "670" "0" "c.670G>T" "r.(?)" "p.(Glu224Ter)" "6" "0001047326" "00006124" "90" "670" "0" "670" "0" "c.670G>T" "r.(?)" "p.(Glu224Ter)" "6" "0001047327" "00006124" "90" "670" "0" "670" "0" "c.670G>T" "r.(?)" "p.(Glu224Ter)" "6" "0001047328" "00006124" "90" "30" "0" "30" "0" "c.30G>A" "r.(?)" "p.(Trp10Ter)" "2" "0001047329" "00006124" "90" "241" "0" "242" "0" "c.241_242del" "r.(?)" "p.(Val81Ter)" "3" "0001047334" "00006124" "90" "787" "0" "787" "0" "c.787A>T" "r.(?)" "p.(Met263Leu)" "7" "0001047335" "00006124" "90" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Gly353Ser)" "9" "0001047345" "00006124" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Phe324=)" "" "0001047346" "00006124" "10" "995" "26" "995" "26" "c.995+26C>T" "r.(?)" "p.(=)" "" "0001047347" "00006124" "10" "995" "49" "995" "49" "c.995+49G>A" "r.(?)" "p.(=)" "" "0001047363" "00006124" "90" "1333" "0" "1336" "0" "c.1333_1336delAATG" "r.(?)" "p.(Asn445Ter)" "" "0001047368" "00006124" "90" "75" "0" "76" "0" "c.75_76del" "r.(?)" "p.(Cys26TrpfsTer2)" "2" "0001047369" "00006124" "90" "940" "-1" "940" "-1" "c.940-1G>A" "r.940_1017del" "p.Ala315_Ala340del" "7i" "0001047381" "00006124" "90" "1286" "0" "1286" "0" "c.1286T>A" "r.(?)" "p.(Ile429Asn)" "11" "0001047385" "00006124" "90" "827" "0" "827" "0" "c.827T>G" "r.(?)" "p.(Phe276Cys)" "7" "0001047388" "00006124" "30" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Ser384Gly)" "9" "0001047391" "00006124" "30" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Ser384Gly)" "9" "0001047394" "00006124" "90" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Val446Met)" "11" "0001047407" "00006124" "90" "75" "0" "76" "0" "c.75_76del" "r.(?)" "p.(Cys26TrpfsTer2)" "2" "0001047408" "00006124" "90" "747" "0" "773" "0" "c.747_773del" "r.(?)" "p.(Lys250_Gly258del)" "6" "0001047413" "00006124" "10" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Ser384Gly)" "" "0001047419" "00006124" "90" "920" "0" "920" "0" "c.920T>C" "r.(?)" "p.(Phe307Ser)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 47 "{{screeningid}}" "{{variantid}}" "0000290628" "0000647317" "0000290629" "0000647318" "0000305259" "0000668947" "0000453039" "0000987538" "0000453238" "0000987778" "0000453239" "0000987779" "0000453249" "0000987797" "0000453249" "0000987798" "0000453256" "0000987812" "0000453257" "0000987813" "0000453266" "0000987827" "0000453862" "0000988624" "0000467869" "0001047268" "0000467869" "0001047269" "0000467875" "0001047277" "0000467876" "0001047278" "0000467877" "0001047279" "0000467877" "0001047280" "0000467882" "0001047285" "0000467909" "0001047319" "0000467910" "0001047320" "0000467911" "0001047321" "0000467912" "0001047322" "0000467913" "0001047323" "0000467914" "0001047324" "0000467915" "0001047325" "0000467916" "0001047326" "0000467917" "0001047327" "0000467918" "0001047328" "0000467919" "0001047329" "0000467924" "0001047334" "0000467925" "0001047335" "0000467930" "0001047345" "0000467931" "0001047346" "0000467932" "0001047347" "0000467944" "0001047363" "0000467949" "0001047368" "0000467949" "0001047385" "0000467950" "0001047369" "0000467952" "0001047388" "0000467956" "0001047391" "0000467962" "0001047381" "0000467962" "0001047394" "0000467976" "0001047407" "0000467976" "0001047419" "0000467977" "0001047408" "0000467982" "0001047413"