### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDHA1) # 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}}" "PDHA1" "pyruvate dehydrogenase (lipoamide) alpha 1" "X" "p22.1" "unknown" "NG_016781.1" "UD_132085418848" "" "http://www.LOVD.nl/PDHA1" "" "1" "8806" "5160" "300502" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/PDHA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2015-02-24 21:55:45" "00000" "2021-09-17 14:40:49" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023869" "PDHA1" "transcript variant 1" "003" "NM_000284.3" "" "NP_000275.1" "" "" "" "-145" "3227" "1173" "19362011" "19379825" "00008" "2013-11-25 16:52:44" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2015-12-07 07:11:25" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00763" "PDHAD" "pyruvate dehydrogenase E1-alpha deficiency (PDHAD, Leigh syndrome, X-linked)" "" "312170" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 11:17:58" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PDHA1" "00139" "PDHA1" "00763" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00032713" "" "" "" "1" "" "01236" "" "" "M" "no" "Spain" "" "0" "" "" "" "" "00036487" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036488" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036489" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036490" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036491" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036492" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080896" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00100792" "" "" "" "1" "" "00006" "{PMID:Chao 2016:26931468}, {DOI:Chao 2016:10.1093/hmg/ddw059}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "00y10m" "0" "" "" "" "26931468-Pat2" "00172306" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172307" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173327" "" "" "" "6" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173571" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00180172" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat24" "00183062" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio59" "00271471" "" "" "" "1" "" "02061" "" "" "" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00274153" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat19" "00274184" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "F" "" "Poland" "" "0" "" "" "" "Pat56" "00274192" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "F" "" "Poland" "" "0" "" "" "" "Pat66" "00274194" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat68" "00276051" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00295011" "" "" "" "46" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295905" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295931" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00305289" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306238" "" "" "" "1" "" "03651" "" "" "F" "no" "China" "" "" "" "" "Chinese" "" "00314866" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "Israel" "" "0" "" "" "" "Trio24" "00373720" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "" "Chinese" "iw138" "00374436" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4592" "00374802" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3955" "00375528" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "180764" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00032713" "00763" "00036488" "00198" "00036490" "00198" "00036491" "00198" "00036492" "00198" "00080896" "00763" "00100792" "00344" "00172306" "00187" "00172307" "00187" "00173327" "00187" "00173571" "00187" "00180172" "00198" "00183062" "00139" "00271471" "00291" "00274153" "00198" "00274184" "00198" "00274192" "00198" "00274194" "00198" "00276051" "00198" "00295011" "00198" "00295905" "00198" "00295931" "00198" "00305289" "00198" "00306238" "00763" "00314866" "00198" "00373720" "00763" "00374436" "00198" "00374802" "00198" "00375528" "00763" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00291, 00344, 00763, 01157 ## Count = 28 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000026147" "00763" "00032713" "01236" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000060465" "00763" "00080896" "01758" "Isolated (sporadic)" "" "Pyruvate dehydrogenase E1-alpha deficiency (OMIM:312170)" "" "" "" "" "" "" "" "" "" "" "" "" "0000079006" "00344" "00100792" "00006" "Isolated (sporadic)" "" "see paper; born 37w3d, pregnancy\r\ncomplicated by intrauterine growth restriction, hydrocephalus; 4d persistent lactic acidosis; died 10 m from pneumonia; ...." "00y00m04d" "" "" "" "" "" "" "" "" "" "" "" "0000137170" "00187" "00172306" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137171" "00187" "00172307" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138191" "00187" "00173327" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138435" "00187" "00173571" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000142626" "00198" "00180172" "00006" "Familial, X-linked recessive" "" "(Pharmacoresistant severe) epileptic encephalopathy (HP:0200134), cerebral palsy (HP:0100021), profound global developmental delay (HP:0012736), microcephaly (HP:0000252). Head MRI: cerebral atrophy (HP:0002283)." "" "" "" "" "" "" "" "" "" "PDHAD, no lactic acidosis" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000142649" "00198" "00180172" "00006" "Familial, autosomal recessive" "" "(Pharmacoresistant severe) epileptic encephalopathy (HP:0200134), cerebral palsy (HP:0100021), profound global developmental delay (HP:0012736), microcephaly (HP:0000252). Head MRI: cerebral atrophy (HP:0002283)." "" "" "" "" "" "" "" "" "" "PHGDHD" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000143815" "00139" "00183062" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000156553" "00198" "00036488" "01164" "Unknown" "" "ataxia, defect of complex-II, lactate acidosis" "" "" "" "" "" "" "" "" "" "" "ataxia, defect of complex-II, lactate acidosis" "" "0000156554" "00198" "00036490" "01164" "Unknown" "" "MELAS" "" "" "" "" "" "" "" "" "" "" "MELAS" "" "0000156555" "00198" "00036491" "01164" "Unknown" "" "MELAS" "" "" "" "" "" "" "" "" "" "" "MELAS" "" "0000156556" "00198" "00036492" "01164" "Unknown" "" "mitochondrial cytopathy" "" "" "" "" "" "" "" "" "" "" "mitochondrial disease" "" "0000209098" "00198" "00274153" "00006" "Familial, X-linked dominant" "" "mitochondrial disease criteria score 5; muscle biopsy" "" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209129" "00198" "00274184" "00006" "Isolated (sporadic)" "" "mitochondrial disease criteria score 4" "" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209137" "00198" "00274192" "00006" "Isolated (sporadic)" "" "neonatal onset; mitochondrial disease criteria score 5; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209139" "00198" "00274194" "00006" "Isolated (sporadic)" "" "involvement basal ganglia; mitochondrial disease criteria score 4; muscle biopsy" "" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000210607" "00198" "00276051" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Epileptic encephalopathy (HP:0200134); Seizures (HP:0001250); Microcephaly (HP:0000252); Hearing impairment (HP:0000365); Ventriculomegaly (HP:0002119); Agenesis of corpus callosum (HP:0001274); Periventricular leukomalacia (HP:0006970)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223381" "00198" "00295905" "01164" "Unknown" "" "Increased serum lactate (HP:0002151); Brain atrophy (HP:0012444); Seizures (HP:0001250); Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Hyperalaninemia (HP:0003348)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223407" "00198" "00295931" "01164" "Unknown" "" "Episodic ataxia (HP:0002131)" "" "" "" "" "" "" "" "" "" "" "" "" "0000238624" "00198" "00314866" "00006" "Isolated (sporadic)" "8y" "Leigh-like features, pallidum necrosis." "2y" "" "" "" "" "" "" "" "" "" "" "" "0000268945" "00763" "00373720" "01864" "Familial, X-linked dominant" "" "HP:0001252; HP:0001250; HP:0025336; HP:0032989; HP:0001270; HP:0012766" "" "" "" "" "" "" "" "" "" "Pyruvate dehydrogenase E1-alpha deficiency (OMIM 312170)" "" "" "0000269646" "00198" "00374436" "00006" "Familial, X-linked" "" "Cerebellar ataxia, repetitive eye movements, developmental delay, trouble eating and performing fine motor movements" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000270012" "00198" "00374802" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000270742" "00763" "00375528" "01164" "Familial, X-linked dominant" "" "Hydrocephalus, Morphological central nervous system abnormality, EEG abnormality, Congenital lactic acidosis" "" "" "" "" "" "" "" "" "" "02m" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000032781" "00032713" "1" "01236" "01236" "2015-02-23 12:42:50" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000036557" "00036487" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036558" "00036488" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036559" "00036489" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036560" "00036490" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036561" "00036491" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036562" "00036492" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000081008" "00080896" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101214" "00100792" "1" "00006" "00006" "2017-03-10 12:43:04" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000173189" "00172306" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173190" "00172307" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174210" "00173327" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174454" "00173571" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000181075" "00180172" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000184022" "00183062" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000272625" "00271471" "1" "02061" "02061" "2019-12-19 17:09:52" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000275308" "00274153" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275339" "00274184" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275347" "00274192" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275349" "00274194" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277198" "00276051" "1" "01807" "01807" "2020-01-24 11:03:01" "" "" "SEQ" "DNA" "" "" "0000296179" "00295011" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297077" "00295905" "1" "01164" "01164" "2020-03-30 10:43:37" "" "" "SEQ-NG-S" "DNA" "" "" "0000297103" "00295931" "1" "01164" "01164" "2020-03-30 10:44:29" "" "" "SEQ-NG-S" "DNA" "" "" "0000306418" "00305289" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307376" "00306238" "1" "03651" "03651" "2020-07-13 13:10:18" "" "" "SEQ-NG" "DNA" "" "WES" "0000316040" "00314866" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000374953" "00373720" "1" "01864" "01864" "2021-05-19 07:43:09" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000375630" "00374436" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375996" "00374802" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376725" "00375528" "1" "01164" "01164" "2021-06-10 15:10:11" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000032781" "PDHA1" "0000036557" "PDHA1" "0000036558" "PDHA1" "0000036559" "PDHA1" "0000036560" "PDHA1" "0000036561" "PDHA1" "0000036562" "PDHA1" "0000081008" "PDHA1" "0000101214" "DNM1L" "0000101214" "PDHA1" "0000173189" "MAP3K15" "0000173190" "MAP3K15" "0000174210" "PJA1" "0000174454" "CT45A5" "0000181075" "PDHA1" "0000275308" "PDHA1" "0000275339" "PDHA1" "0000275347" "PDHA1" "0000275349" "PDHA1" "0000307376" "PDHA1" "0000316040" "PDHA1" "0000374953" "PDHA1" "0000375630" "PDHA1" "0000375996" "PDHA1" "0000376725" "PDHA1" ## 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 = 109 "{{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}}" "0000002832" "20" "30" "X" "19373662" "19373667" "dup" "0" "00037" "PDHA1_000003" "g.19373662_19373667dup" "" "" "" "759+25_759+26insGGCCAA" "" "Germline" "" "" "0" "" "" "g.19355544_19355549dup" "" "likely benign" "" "0000010834" "20" "30" "X" "19373662" "19373667" "dup" "0" "00037" "PDHA1_000003" "g.19373662_19373667dup" "" "" "" "759+25_759+26insGGCCAA" "" "Germline" "" "" "0" "" "" "g.19355544_19355549dup" "" "likely benign" "" "0000058953" "0" "90" "X" "19375770" "19375770" "subst" "0" "01236" "PDHA1_000004" "g.19375770G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.19357652G>A" "" "pathogenic" "" "0000063682" "0" "70" "X" "19373828" "19373828" "subst" "0" "01164" "PDHA1_000008" "g.19373828G>C" "" "" "" "" "analysis of the mother suggests de novo status in the affected patient" "De novo" "yes" "" "0" "" "" "g.19355710G>C" "" "likely pathogenic" "ACMG" "0000063683" "1" "50" "X" "19373869" "19373874" "del" "0" "01164" "PDHA1_000005" "g.19373869_19373874del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.19355751_19355756del" "" "VUS" "" "0000063684" "1" "10" "X" "19373890" "19373890" "subst" "0.00476001" "01164" "PDHA1_000006" "g.19373890C>T" "" "" "" "" "" "Germline" "" "rs190157093" "0" "" "" "g.19355772C>T" "" "benign" "" "0000063685" "1" "10" "X" "19362068" "19362068" "subst" "0" "01164" "PDHA1_000010" "g.19362068G>A" "frequency up to 10%" "" "" "" "" "Germline" "" "rs5955751" "0" "" "" "g.19343950G>A" "" "benign" "" "0000063686" "1" "10" "X" "19373452" "19373452" "subst" "0.0391228" "01164" "PDHA1_000009" "g.19373452C>T" "frequency up to 12%" "" "" "" "" "Germline" "" "rs13440874" "0" "" "" "g.19355334C>T" "" "benign" "" "0000063687" "1" "90" "X" "19377730" "19377730" "subst" "0" "01164" "PDHA1_000007" "g.19377730C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.19359612C>T" "" "pathogenic" "" "0000130094" "0" "90" "X" "19377740" "19377743" "dup" "0" "01758" "PDHA1_000011" "g.19377740_19377743dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.19359622_19359625dup" "" "pathogenic" "ACMG" "0000163726" "0" "70" "X" "19371229" "19371229" "subst" "0" "00006" "PDHA1_000012" "g.19371229G>A" "" "{PMID:Chao 2016:26931468}, {DOI:Chao 2016:10.1093/hmg/ddw059}" "" "" "" "De novo" "-" "" "0" "" "" "g.19353111G>A" "" "likely pathogenic" "" "0000251923" "0" "30" "X" "19375782" "19375782" "subst" "0.0204882" "02326" "PDHA1_000022" "g.19375782A>C" "" "" "" "PDHA1(NM_001173454.1):c.958A>C (p.M320L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19357664A>C" "" "likely benign" "" "0000253529" "0" "10" "X" "19377133" "19377133" "subst" "0.000319526" "01943" "PDHA1_000023" "g.19377133A>C" "" "" "" "PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19359015A>C" "" "benign" "" "0000291462" "0" "50" "X" "19444456" "19444456" "subst" "0" "01943" "MAP3K15_000044" "g.19444456C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1172G>A (p.R391H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19426338C>T" "" "VUS" "" "0000291463" "0" "50" "X" "19443667" "19443667" "subst" "0.0000307195" "01943" "MAP3K15_000042" "g.19443667T>C" "" "" "" "MAP3K15(NM_001001671.3):c.1421A>G (p.K474R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19425549T>C" "" "VUS" "" "0000291464" "0" "50" "X" "19433338" "19433338" "subst" "0" "01943" "MAP3K15_000040" "g.19433338G>A" "" "" "" "MAP3K15(NM_001001671.3):c.1477C>T (p.R493W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19415220G>A" "" "VUS" "" "0000291465" "0" "50" "X" "19413327" "19413327" "subst" "0.0000169219" "01943" "MAP3K15_000036" "g.19413327C>G" "" "" "" "MAP3K15(NM_001001671.3):c.2067-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19395209C>G" "" "VUS" "" "0000291466" "0" "50" "X" "19533144" "19533144" "subst" "0.0000433576" "01943" "MAP3K15_000047" "g.19533144G>C" "" "" "" "MAP3K15(NM_001001671.3):c.236C>G (p.P79R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19515026G>C" "" "VUS" "" "0000291467" "0" "30" "X" "19398310" "19398310" "subst" "0" "01943" "MAP3K15_000034" "g.19398310G>A" "" "" "" "MAP3K15(NM_001001671.3):c.2517C>T (p.C839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19380192G>A" "" "likely benign" "" "0000291468" "0" "10" "X" "19389113" "19389113" "subst" "0.00102241" "01943" "MAP3K15_000027" "g.19389113G>A" "" "" "" "MAP3K15(NM_001001671.3):c.3364C>T (p.R1122*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19370995G>A" "" "benign" "" "0000296865" "0" "50" "X" "19362136" "19362136" "subst" "0" "02325" "PDHA1_000013" "g.19362136G>A" "" "" "" "PDHA1(NM_000284.4):c.-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19344018G>A" "" "VUS" "" "0000296866" "0" "30" "X" "19367441" "19367441" "subst" "0.0000562234" "02325" "PDHA1_000017" "g.19367441G>A" "" "" "" "PDHA1(NM_001173454.2):c.183G>A (p.V61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19349323G>A" "" "likely benign" "" "0000296867" "0" "30" "X" "19369513" "19369513" "subst" "0.0000563399" "02325" "PDHA1_000018" "g.19369513G>A" "" "" "" "PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19351395G>A" "" "likely benign" "" "0000296868" "0" "30" "X" "19371317" "19371317" "subst" "0.0000111971" "02325" "PDHA1_000019" "g.19371317T>C" "" "" "" "PDHA1(NM_000284.4):c.510+26T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19353199T>C" "" "likely benign" "" "0000296869" "0" "10" "X" "19363875" "19363875" "del" "0" "02325" "PDHA1_000014" "g.19363875del" "" "" "" "PDHA1(NM_000284.4):c.57+1663delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19345757del" "" "benign" "" "0000296870" "0" "50" "X" "19364725" "19364725" "subst" "0.0000783638" "02325" "PDHA1_000016" "g.19364725C>G" "" "" "" "PDHA1(NM_000284.4):c.57+2513C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19346607C>G" "" "VUS" "" "0000296871" "0" "30" "X" "19373890" "19373890" "subst" "0.00476001" "02325" "PDHA1_000006" "g.19373890C>T" "" "" "" "PDHA1(NM_001173454.2):c.945+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19355772C>T" "" "likely benign" "" "0000300685" "0" "30" "X" "19369513" "19369513" "subst" "0.0000563399" "02326" "PDHA1_000018" "g.19369513G>A" "" "" "" "PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19351395G>A" "" "likely benign" "" "0000305404" "0" "50" "X" "19373832" "19373832" "subst" "0" "01943" "PDHA1_000021" "g.19373832G>C" "" "" "" "PDHA1(NM_001173454.1):c.902G>C (p.R301P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19355714G>C" "" "VUS" "" "0000333352" "0" "30" "X" "19364694" "19364694" "subst" "0.00200108" "01804" "PDHA1_000015" "g.19364694G>A" "" "" "" "PDHA1(NM_001173454.1):c.124G>A (p.(Gly42Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19346576G>A" "" "likely benign" "" "0000333354" "0" "50" "X" "19377133" "19377133" "subst" "0.000319526" "01804" "PDHA1_000023" "g.19377133A>C" "" "" "" "PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19359015A>C" "" "VUS" "" "0000333356" "0" "30" "X" "19379453" "19379453" "subst" "0.0105518" "01804" "MAP3K15_000020" "g.19379453T>C" "" "" "" "MAP3K15(NM_001001671.3):c.3857+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19361335T>C" "" "likely benign" "" "0000333358" "0" "50" "X" "19380991" "19380992" "del" "0" "01804" "MAP3K15_000022" "g.19380991_19380992del" "" "" "" "MAP3K15(NM_001001671.3):c.3567-9_3567-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19362873_19362874del" "" "VUS" "" "0000333359" "0" "50" "X" "19380988" "19380992" "del" "0" "01804" "MAP3K15_000023" "g.19380988_19380992del" "" "" "" "MAP3K15(NM_001001671.3):c.3567-12_3567-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19362870_19362874del" "" "VUS" "" "0000333360" "0" "50" "X" "19380992" "19380992" "del" "0" "01804" "MAP3K15_000024" "g.19380992del" "" "" "" "MAP3K15(NM_001001671.3):c.3567-9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19362874del" "" "VUS" "" "0000333362" "0" "50" "X" "19387332" "19387332" "subst" "0.00218248" "01804" "MAP3K15_000026" "g.19387332G>A" "" "" "" "MAP3K15(NM_001001671.3):c.3406C>T (p.(Arg1136Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19369214G>A" "" "VUS" "" "0000333365" "0" "30" "X" "19389463" "19389463" "subst" "0.0000739388" "01804" "MAP3K15_000029" "g.19389463G>A" "" "" "" "MAP3K15(NM_001001671.3):c.3294C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19371345G>A" "" "likely benign" "" "0000333366" "0" "50" "X" "19390794" "19390794" "subst" "0.00229727" "01804" "MAP3K15_000030" "g.19390794T>G" "" "" "" "MAP3K15(NM_001001671.3):c.3085A>C (p.(Asn1029His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19372676T>G" "" "VUS" "" "0000333367" "0" "30" "X" "19390807" "19390807" "subst" "0" "01804" "MAP3K15_000031" "g.19390807G>C" "" "" "" "MAP3K15(NM_001001671.3):c.3072C>G (p.(Asn1024Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19372689G>C" "" "likely benign" "" "0000333370" "0" "50" "X" "19413216" "19413216" "subst" "0" "01804" "MAP3K15_000035" "g.19413216A>G" "" "" "" "MAP3K15(NM_001001671.3):c.2177T>C (p.(Met726Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19395098A>G" "" "VUS" "" "0000333372" "0" "50" "X" "19431519" "19431519" "subst" "0.000102206" "01804" "MAP3K15_000038" "g.19431519C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1654G>A (p.(Glu552Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19413401C>T" "" "VUS" "" "0000333373" "0" "30" "X" "19433335" "19433335" "subst" "0.00632515" "01804" "MAP3K15_000039" "g.19433335G>A" "" "" "" "MAP3K15(NM_001001671.3):c.1480C>T (p.(Arg494Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19415217G>A" "" "likely benign" "" "0000333376" "0" "50" "X" "19504603" "19504603" "dup" "0" "01804" "MAP3K15_000045" "g.19504603dup" "" "" "" "MAP3K15(NM_001001671.3):c.522_523insC (p.(Thr175HisfsTer19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19486485dup" "" "VUS" "" "0000333377" "0" "50" "X" "19533142" "19533142" "subst" "0" "01804" "MAP3K15_000046" "g.19533142C>A" "" "" "" "MAP3K15(NM_001001671.3):c.238G>T (p.(Glu80Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19515024C>A" "" "VUS" "" "0000341724" "0" "50" "X" "19368152" "19368152" "subst" "0" "02327" "PDHA1_000025" "g.19368152G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19350034G>A" "" "VUS" "" "0000349375" "0" "50" "X" "19373555" "19373555" "subst" "0" "02327" "PDHA1_000026" "g.19373555C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19355437C>A" "" "VUS" "" "0000393046" "1" "50" "X" "19379640" "19379640" "subst" "0.00365309" "00124" "MAP3K15_000003" "g.19379640G>C" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "2176C>G (Q726E)" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.19361522G>C" "" "VUS" "" "0000393047" "1" "50" "X" "19378903" "19378903" "subst" "0.0000746466" "00124" "MAP3K15_000004" "g.19378903C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "2331G>C (R777S)" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.19360785C>G" "" "VUS" "" "0000401225" "1" "30" "X" "19373839" "19373839" "subst" "0.113365" "00124" "PDHA1_000030" "g.19373839A>G" "6/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A265A" "recurrent, found 6 times" "Germline" "" "" "0" "" "" "g.19355721A>G" "" "likely benign" "" "0000401226" "1" "50" "X" "19375782" "19375782" "subst" "0.0204882" "00124" "PDHA1_000022" "g.19375782A>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "M282L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.19357664A>C" "" "VUS" "" "0000404711" "20" "50" "X" "19367437" "19367437" "subst" "0" "00006" "PDHA1_000029" "g.19367437G>C" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.19349319G>C" "" "VUS" "ACMG" "0000407989" "0" "90" "X" "19369435" "19369435" "del" "0" "00006" "PDHA1_000031" "g.19369435delinsAGA" "" "{PMID:de Ligt 2012:23033978}" "" "NM_000284.3:c.328delinsAGA (Pro110Argfs*71)" "" "De novo" "" "" "0" "" "" "g.19351317delinsAGA" "" "pathogenic" "" "0000575181" "0" "50" "X" "19364743" "19364743" "subst" "0" "02327" "MAP3K15_000049" "g.19364743T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19346625T>A" "" "VUS" "" "0000575183" "0" "30" "X" "19367495" "19367495" "subst" "0.00000565195" "01804" "MAP3K15_000051" "g.19367495A>C" "" "" "" "PDHA1(NM_000284.3):c.117+6A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19349377A>C" "" "likely benign" "" "0000575184" "0" "50" "X" "19368144" "19368144" "subst" "0" "02325" "MAP3K15_000052" "g.19368144G>C" "" "" "" "PDHA1(NM_000284.4):c.207G>C (p.Q69H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19350026G>C" "" "VUS" "" "0000575185" "0" "70" "X" "19369471" "19369471" "subst" "0" "02327" "MAP3K15_000053" "g.19369471G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19351353G>C" "" "likely pathogenic" "" "0000575186" "0" "50" "X" "19369513" "19369513" "subst" "0.0000563399" "01804" "PDHA1_000018" "g.19369513G>A" "" "" "" "PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19351395G>A" "" "VUS" "" "0000575187" "0" "50" "X" "19372615" "19372615" "subst" "0" "02325" "MAP3K15_000054" "g.19372615C>G" "" "" "" "PDHA1(NM_000284.4):c.517C>G (p.L173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19354497C>G" "" "VUS" "" "0000575188" "0" "10" "X" "19373457" "19373457" "subst" "0.00211606" "01943" "MAP3K15_000055" "g.19373457C>T" "" "" "" "PDHA1(NM_001173454.1):c.718-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19355339C>T" "" "benign" "" "0000575191" "0" "30" "X" "19377712" "19377712" "subst" "0.000139845" "01804" "MAP3K15_000058" "g.19377712G>A" "" "" "" "PDHA1(NM_000284.3):c.1114G>A (p.(Asp372Asn)), PDHA1(NM_001173454.1):c.1228G>A (p.D410N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19359594G>A" "" "likely benign" "" "0000575192" "0" "90" "X" "19377731" "19377731" "subst" "0" "02327" "MAP3K15_000059" "g.19377731G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19359613G>A" "" "pathogenic" "" "0000575198" "0" "30" "X" "19392615" "19392615" "subst" "0.0000955502" "01804" "MAP3K15_000064" "g.19392615C>T" "" "" "" "MAP3K15(NM_001001671.3):c.2753G>A (p.(Arg918Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19374497C>T" "" "likely benign" "" "0000575199" "0" "30" "X" "19398278" "19398278" "subst" "0.000539322" "01943" "MAP3K15_000033" "g.19398278G>A" "" "" "" "MAP3K15(NM_001001671.3):c.2549C>T (p.P850L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19380160G>A" "" "likely benign" "" "0000575200" "0" "30" "X" "19398315" "19398315" "subst" "0.00512904" "01804" "MAP3K15_000018" "g.19398315C>T" "" "" "" "MAP3K15(NM_001001671.3):c.2512G>A (p.(Gly838Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19380197C>T" "" "likely benign" "" "0000575201" "0" "50" "X" "19410478" "19410478" "subst" "0" "01943" "MAP3K15_000065" "g.19410478C>T" "" "" "" "MAP3K15(NM_001001671.3):c.2308G>A (p.V770M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19392360C>T" "" "VUS" "" "0000575202" "0" "50" "X" "19425322" "19425322" "subst" "0.0000814297" "01943" "MAP3K15_000037" "g.19425322C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1828G>A (p.E610K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19407204C>T" "" "VUS" "" "0000575203" "0" "50" "X" "19433286" "19433286" "subst" "0" "01943" "MAP3K15_000066" "g.19433286T>C" "" "" "" "MAP3K15(NM_001001671.3):c.1529A>G (p.N510S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19415168T>C" "" "VUS" "" "0000575205" "0" "30" "X" "19443746" "19443746" "subst" "0.0000536653" "01943" "MAP3K15_000068" "g.19443746C>T" "" "" "" "MAP3K15(NM_001001671.3):c.1342G>A (p.D448N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19425628C>T" "" "likely benign" "" "0000575206" "0" "30" "X" "19475074" "19475074" "subst" "0.0000594227" "01943" "MAP3K15_000069" "g.19475074C>T" "" "" "" "MAP3K15(NM_001001671.3):c.952G>A (p.D318N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19456956C>T" "" "likely benign" "" "0000575207" "0" "50" "X" "19482440" "19482440" "subst" "0" "01943" "MAP3K15_000070" "g.19482440G>A" "" "" "" "MAP3K15(NM_001001671.3):c.610C>T (p.R204*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19464322G>A" "" "VUS" "" "0000575208" "0" "30" "X" "19482454" "19482454" "subst" "0.00542817" "01804" "MAP3K15_000071" "g.19482454C>T" "" "" "" "MAP3K15(NM_001001671.3):c.596G>A (p.(Ser199Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19464336C>T" "" "likely benign" "" "0000619382" "0" "30" "X" "19364667" "19364667" "subst" "0.0000154595" "01943" "MAP3K15_000072" "g.19364667T>A" "" "" "" "PDHA1(NM_001173454.1):c.97T>A (p.S33T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19346549T>A" "" "likely benign" "" "0000619383" "0" "30" "X" "19373556" "19373556" "subst" "0.000246115" "01943" "MAP3K15_000073" "g.19373556G>A" "" "" "" "PDHA1(NM_001173454.1):c.807G>A (p.T269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19355438G>A" "" "likely benign" "" "0000619384" "0" "30" "X" "19373571" "19373571" "subst" "0.0000615281" "01943" "MAP3K15_000074" "g.19373571G>A" "" "" "" "PDHA1(NM_001173454.1):c.822G>A (p.A274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19355453G>A" "" "likely benign" "" "0000619386" "0" "50" "X" "19377140" "19377165" "dup" "0" "01804" "MAP3K15_000076" "g.19377140_19377165dup" "" "" "" "PDHA1(NM_000284.3):c.1005_1006insAAGGTACAGTCACTTGTTCATGGTGG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19359022_19359047dup" "" "VUS" "" "0000619387" "0" "30" "X" "19425363" "19425363" "subst" "0.000316232" "01943" "MAP3K15_000077" "g.19425363A>G" "" "" "" "MAP3K15(NM_001001671.3):c.1787T>C (p.V596A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19407245A>G" "" "likely benign" "" "0000619388" "0" "30" "X" "19475062" "19475062" "subst" "0.0000894294" "01943" "MAP3K15_000079" "g.19475062T>C" "" "" "" "MAP3K15(NM_001001671.3):c.964A>G (p.I322V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19456944T>C" "" "likely benign" "" "0000624550" "0" "30" "X" "19449715" "19449715" "subst" "0" "01943" "MAP3K15_000078" "g.19449715G>A" "" "" "" "MAP3K15(NM_001001671.3):c.1007C>T (p.T336I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19431597G>A" "" "likely benign" "" "0000626561" "0" "50" "X" "19377039" "19377039" "subst" "0" "02061" "PDHA1_000032" "g.19377039G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.19358921G>A" "" "VUS" "" "0000629272" "21" "90" "X" "19368199" "19368199" "subst" "0" "00006" "PDHA1_000033" "g.19368199C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.19350081C>T" "" "pathogenic (dominant)" "" "0000629303" "0" "90" "X" "19375796" "19375799" "dup" "0" "00006" "PDHA1_000036" "g.19375796_19375799dup" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "856_859dupACTT" "" "De novo" "" "" "0" "" "" "g.19357678_19357681dup" "" "pathogenic (dominant)" "" "0000629311" "0" "90" "X" "19377067" "19377069" "del" "0" "00006" "PDHA1_000035" "g.19377067_19377069del" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "De novo" "" "" "0" "" "" "g.19358949_19358951del" "" "pathogenic (dominant)" "" "0000629313" "0" "50" "X" "19368228" "19368228" "subst" "0" "00006" "PDHA1_000034" "g.19368228G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "mosaic" "De novo" "" "" "0" "" "" "g.19350110G>A" "" "VUS" "" "0000631942" "0" "90" "X" "19377623" "19377630" "del" "0" "01807" "PDHA1_000037" "g.19377623_19377630del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.19359505_19359512del" "" "pathogenic" "" "0000652868" "1" "10" "X" "19375782" "19375782" "subst" "0.0204882" "03575" "PDHA1_000022" "g.19375782A>C" "46/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "46 heterozygous; {DB:CLININrs2229137}" "Germline" "" "rs2229137" "0" "" "" "g.19357664A>C" "" "benign" "" "0000659687" "0" "50" "X" "19373548" "19373548" "subst" "0" "01164" "PDHA1_000038" "g.19373548A>G" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "" "0" "" "" "g.19355430A>G" "" "VUS" "ACMG" "0000659719" "0" "50" "X" "19373840" "19373840" "subst" "0" "01164" "PDHA1_000039" "g.19373840A>G" "" "" "" "" "ACMG grading: BP4,PM2" "Germline" "" "" "0" "" "" "g.19355722A>G" "" "VUS" "ACMG" "0000670106" "0" "10" "X" "19375782" "19375782" "subst" "0.0204882" "03575" "PDHA1_000022" "g.19375782A>C" "19/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 homozygous; {DB:CLININrs2229137}" "Germline" "" "rs2229137" "0" "" "" "g.19357664A>C" "" "benign" "" "0000674014" "0" "70" "X" "19371241" "19371241" "subst" "0" "03651" "PDHA1_000040" "g.19371241C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.19353123C>G" "" "pathogenic (recessive)" "" "0000682328" "0" "90" "X" "19375796" "19375799" "dup" "0" "02329" "PDHA1_000036" "g.19375796_19375799dup" "" "" "" "PDHA1(NM_000284.3):c.858_861dupTTAC (p.R288Lfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682329" "0" "30" "X" "19377660" "19377660" "subst" "0.0000559391" "01943" "MAP3K15_000081" "g.19377660G>T" "" "" "" "PDHA1(NM_001173454.1):c.1176G>T (p.T392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682330" "0" "30" "X" "19387194" "19387194" "subst" "0.0000236368" "01943" "MAP3K15_000082" "g.19387194C>T" "" "" "" "MAP3K15(NM_001001671.3):c.3544G>A (p.E1182K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693514" "0" "30" "X" "19369513" "19369513" "subst" "0.0000563399" "01943" "PDHA1_000018" "g.19369513G>A" "" "" "" "PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693515" "0" "50" "X" "19416408" "19416408" "subst" "0" "01943" "MAP3K15_000083" "g.19416408C>A" "" "" "" "MAP3K15(NM_001001671.3):c.2002G>T (p.A668S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693516" "0" "30" "X" "19433376" "19433376" "subst" "0.000566156" "01943" "MAP3K15_000041" "g.19433376C>A" "" "" "" "MAP3K15(NM_001001671.3):c.1440-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693517" "0" "30" "X" "19482393" "19482393" "subst" "0.0000648715" "01943" "MAP3K15_000084" "g.19482393C>G" "" "" "" "MAP3K15(NM_001001671.3):c.657G>C (p.P219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693518" "0" "50" "X" "19482517" "19482517" "subst" "0" "01943" "MAP3K15_000085" "g.19482517C>G" "" "" "" "MAP3K15(NM_001001671.3):c.533G>C (p.S178T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000698166" "0" "90" "X" "19368151" "19368151" "subst" "0" "00006" "PDHA1_000041" "g.19368151C>T" "" "{PMID:Zhu 2015:25590979}" "" "328C>T" "" "De novo" "" "" "0" "" "" "g.19350033C>T" "" "pathogenic" "" "0000728748" "0" "30" "X" "19373632" "19373632" "subst" "0.000117697" "01943" "MAP3K15_000086" "g.19373632C>G" "" "" "" "PDHA1(NM_001173454.1):c.873+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728749" "0" "50" "X" "19375821" "19375821" "subst" "0" "02329" "MAP3K15_000056" "g.19375821A>G" "" "" "" "PDHA1(NM_001173454.1):c.997A>G (p.S333G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728750" "0" "90" "X" "19377070" "19377073" "del" "0" "02329" "MAP3K15_000075" "g.19377070_19377073del" "" "" "" "PDHA1(NM_001173454.1):c.1050_1053delTAAG (p.S350Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000785866" "0" "90" "X" "19377134" "19377136" "del" "0" "01864" "PDHA1_000042" "g.19377134_19377136del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.19359016_19359018del" "" "likely pathogenic" "ACMG" "0000786981" "0" "70" "X" "19371264" "19371264" "subst" "0" "00006" "PDHA1_000043" "g.19371264C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.19353146C>T" "" "likely pathogenic" "" "0000787347" "0" "50" "X" "19377576" "19377599" "del" "0" "00006" "PDHA1_000044" "g.19377576_19377599del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.19359458_19359481del" "" "VUS" "" "0000788735" "0" "70" "X" "19369501" "19369501" "subst" "0" "01164" "PDHA1_000045" "g.19369501C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000810221" "0" "30" "X" "19373842" "19373842" "subst" "0.000447705" "01943" "MAP3K15_000087" "g.19373842A>G" "" "" "" "PDHA1(NM_001173454.1):c.912A>G (p.T304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810222" "0" "30" "X" "19377712" "19377712" "subst" "0.000139845" "01943" "MAP3K15_000058" "g.19377712G>A" "" "" "" "PDHA1(NM_000284.3):c.1114G>A (p.(Asp372Asn)), PDHA1(NM_001173454.1):c.1228G>A (p.D410N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810223" "0" "30" "X" "19387250" "19387250" "subst" "0" "01943" "MAP3K15_000088" "g.19387250G>T" "" "" "" "MAP3K15(NM_001001671.3):c.3488C>A (p.T1163N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810224" "0" "30" "X" "19390913" "19390913" "subst" "0.0000170258" "01943" "MAP3K15_000089" "g.19390913C>T" "" "" "" "MAP3K15(NM_001001671.3):c.2966G>A (p.R989Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PDHA1 ## Count = 109 "{{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}}" "0000002832" "00023869" "30" "759" "40" "759" "45" "c.759+40_759+45dup" "r.(=)" "p.(=)" "7i" "0000010834" "00023869" "30" "759" "40" "759" "45" "c.759+40_759+45dup" "r.(=)" "p.(=)" "7i" "0000058953" "00023869" "90" "832" "0" "832" "0" "c.832G>A" "r.(spl?)" "p.(Gly278Arg)" "9" "0000063682" "00023869" "70" "784" "0" "784" "0" "c.784G>C" "r.(?)" "p.(Val262Leu)" "" "0000063683" "00023869" "50" "825" "0" "830" "0" "c.825_830del" "r.(?)" "p.(Lys277_Gly278del)" "" "0000063684" "00023869" "10" "831" "15" "831" "15" "c.831+15C>T" "r.(=)" "p.(=)" "" "0000063685" "00023869" "10" "-88" "0" "-88" "0" "c.-88G>A" "r.(=)" "p.(=)" "" "0000063686" "00023869" "10" "604" "-15" "604" "-15" "c.604-15C>T" "r.(=)" "p.(=)" "" "0000063687" "00023869" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Arg378Cys)" "" "0000130094" "00023869" "90" "1142" "0" "1145" "0" "c.1142_1145dup" "r.(?)" "p.(Trp383Serfs*6)" "" "0000163726" "00023869" "70" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Gly150Arg)" "5" "0000251923" "00023869" "30" "844" "0" "844" "0" "c.844A>C" "r.(?)" "p.(Met282Leu)" "" "0000253529" "00023869" "10" "999" "0" "999" "0" "c.999A>C" "r.(?)" "p.(Glu333Asp)" "" "0000291462" "00023869" "50" "67858" "0" "67858" "0" "c.*66685C>T" "r.(=)" "p.(=)" "" "0000291463" "00023869" "50" "67069" "0" "67069" "0" "c.*65896T>C" "r.(=)" "p.(=)" "" "0000291464" "00023869" "50" "56740" "0" "56740" "0" "c.*55567G>A" "r.(=)" "p.(=)" "" "0000291465" "00023869" "50" "36729" "0" "36729" "0" "c.*35556C>G" "r.(=)" "p.(=)" "" "0000291466" "00023869" "50" "156546" "0" "156546" "0" "c.*155373G>C" "r.(=)" "p.(=)" "" "0000291467" "00023869" "30" "21712" "0" "21712" "0" "c.*20539G>A" "r.(=)" "p.(=)" "" "0000291468" "00023869" "10" "12515" "0" "12515" "0" "c.*11342G>A" "r.(=)" "p.(=)" "" "0000296865" "00023869" "50" "-20" "0" "-20" "0" "c.-20G>A" "r.(?)" "p.(=)" "" "0000296866" "00023869" "30" "69" "0" "69" "0" "c.69G>A" "r.(?)" "p.(Val23=)" "" "0000296867" "00023869" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Ala136Thr)" "" "0000296868" "00023869" "30" "510" "26" "510" "26" "c.510+26T>C" "r.(=)" "p.(=)" "" "0000296869" "00023869" "10" "57" "1663" "57" "1663" "c.57+1663del" "r.(=)" "p.(=)" "" "0000296870" "00023869" "50" "57" "2513" "57" "2513" "c.57+2513C>G" "r.(=)" "p.(=)" "" "0000296871" "00023869" "30" "831" "15" "831" "15" "c.831+15C>T" "r.(=)" "p.(=)" "" "0000300685" "00023869" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Ala136Thr)" "" "0000305404" "00023869" "50" "788" "0" "788" "0" "c.788G>C" "r.(?)" "p.(Arg263Pro)" "" "0000333352" "00023869" "30" "57" "2482" "57" "2482" "c.57+2482G>A" "r.(=)" "p.(=)" "" "0000333354" "00023869" "50" "999" "0" "999" "0" "c.999A>C" "r.(?)" "p.(Glu333Asp)" "" "0000333356" "00023869" "30" "2855" "0" "2855" "0" "c.*1682T>C" "r.(=)" "p.(=)" "" "0000333358" "00023869" "50" "4393" "0" "4394" "0" "c.*3220_*3221del" "r.(=)" "p.(=)" "" "0000333359" "00023869" "50" "4390" "0" "4394" "0" "c.*3217_*3221del" "r.(=)" "p.(=)" "" "0000333360" "00023869" "50" "4394" "0" "4394" "0" "c.*3221del" "r.(?)" "p.(=)" "" "0000333362" "00023869" "50" "10734" "0" "10734" "0" "c.*9561G>A" "r.(=)" "p.(=)" "" "0000333365" "00023869" "30" "12865" "0" "12865" "0" "c.*11692G>A" "r.(=)" "p.(=)" "" "0000333366" "00023869" "50" "14196" "0" "14196" "0" "c.*13023T>G" "r.(=)" "p.(=)" "" "0000333367" "00023869" "30" "14209" "0" "14209" "0" "c.*13036G>C" "r.(=)" "p.(=)" "" "0000333370" "00023869" "50" "36618" "0" "36618" "0" "c.*35445A>G" "r.(=)" "p.(=)" "" "0000333372" "00023869" "50" "54921" "0" "54921" "0" "c.*53748C>T" "r.(=)" "p.(=)" "" "0000333373" "00023869" "30" "56737" "0" "56737" "0" "c.*55564G>A" "r.(=)" "p.(=)" "" "0000333376" "00023869" "50" "128005" "0" "128005" "0" "c.*126832dup" "r.(?)" "p.(=)" "" "0000333377" "00023869" "50" "156544" "0" "156544" "0" "c.*155371C>A" "r.(=)" "p.(=)" "" "0000341724" "00023869" "50" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72His)" "" "0000349375" "00023869" "50" "692" "0" "692" "0" "c.692C>A" "r.(?)" "p.(Thr231Lys)" "" "0000393046" "00023869" "00" "3042" "0" "3042" "0" "c.*1869G>C" "r.(=)" "p.(=)" "" "0000393047" "00023869" "00" "2305" "0" "2305" "0" "c.*1132C>G" "r.(=)" "p.(=)" "" "0000401225" "00023869" "30" "795" "0" "795" "0" "c.795A>G" "r.(?)" "p.(=)" "8" "0000401226" "00023869" "50" "844" "0" "844" "0" "c.844A>C" "r.(?)" "p.(Met282Leu)" "9" "0000404711" "00023869" "50" "65" "0" "65" "0" "c.65G>C" "r.(?)" "p.(Arg22Thr)" "2" "0000407989" "00023869" "00" "328" "0" "328" "0" "c.328delinsAGA" "r.(?)" "p.(Pro110Argfs*71)" "" "0000575181" "00023869" "50" "57" "2531" "57" "2531" "c.57+2531T>A" "r.(=)" "p.(=)" "" "0000575183" "00023869" "30" "117" "6" "117" "6" "c.117+6A>C" "r.(=)" "p.(=)" "" "0000575184" "00023869" "50" "207" "0" "207" "0" "c.207G>C" "r.(?)" "p.(Gln69His)" "" "0000575185" "00023869" "70" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "" "0000575186" "00023869" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Ala136Thr)" "" "0000575187" "00023869" "50" "517" "0" "517" "0" "c.517C>G" "r.(?)" "p.(Leu173Val)" "" "0000575188" "00023869" "10" "604" "-10" "604" "-10" "c.604-10C>T" "r.(=)" "p.(=)" "" "0000575191" "00023869" "30" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Asp372Asn)" "" "0000575192" "00023869" "90" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Arg378His)" "" "0000575198" "00023869" "30" "16017" "0" "16017" "0" "c.*14844C>T" "r.(=)" "p.(=)" "" "0000575199" "00023869" "30" "21680" "0" "21680" "0" "c.*20507G>A" "r.(=)" "p.(=)" "" "0000575200" "00023869" "30" "21717" "0" "21717" "0" "c.*20544C>T" "r.(=)" "p.(=)" "" "0000575201" "00023869" "50" "33880" "0" "33880" "0" "c.*32707C>T" "r.(=)" "p.(=)" "" "0000575202" "00023869" "50" "48724" "0" "48724" "0" "c.*47551C>T" "r.(=)" "p.(=)" "" "0000575203" "00023869" "50" "56688" "0" "56688" "0" "c.*55515T>C" "r.(=)" "p.(=)" "" "0000575205" "00023869" "30" "67148" "0" "67148" "0" "c.*65975C>T" "r.(=)" "p.(=)" "" "0000575206" "00023869" "30" "98476" "0" "98476" "0" "c.*97303C>T" "r.(=)" "p.(=)" "" "0000575207" "00023869" "50" "105842" "0" "105842" "0" "c.*104669G>A" "r.(=)" "p.(=)" "" "0000575208" "00023869" "30" "105856" "0" "105856" "0" "c.*104683C>T" "r.(=)" "p.(=)" "" "0000619382" "00023869" "30" "57" "2455" "57" "2455" "c.57+2455T>A" "r.(=)" "p.(=)" "" "0000619383" "00023869" "30" "693" "0" "693" "0" "c.693G>A" "r.(?)" "p.(Thr231=)" "" "0000619384" "00023869" "30" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Ala236=)" "" "0000619386" "00023869" "50" "1006" "0" "1008" "23" "c.1006_1008+23dup" "r.spl?" "p.?" "" "0000619387" "00023869" "30" "48765" "0" "48765" "0" "c.*47592A>G" "r.(=)" "p.(=)" "" "0000619388" "00023869" "30" "98464" "0" "98464" "0" "c.*97291T>C" "r.(=)" "p.(=)" "" "0000624550" "00023869" "30" "73117" "0" "73117" "0" "c.*71944G>A" "r.(=)" "p.(=)" "" "0000626561" "00023869" "50" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Arg302His)" "" "0000629272" "00023869" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" "0000629303" "00023869" "90" "858" "0" "861" "0" "c.858_861dup" "r.(?)" "p.(Arg288Leufs*10)" "" "0000629311" "00023869" "90" "933" "0" "935" "0" "c.933_935del" "r.(?)" "p.(Arg311del)" "" "0000629313" "00023869" "50" "291" "0" "291" "0" "c.291G>A" "r.spl?" "p.(?)" "" "0000631942" "00023869" "90" "1025" "0" "1032" "0" "c.1025_1032del" "r.(?)" "p.(Val342Glyfs*3)" "" "0000652868" "00023869" "10" "844" "0" "844" "0" "c.844A>C" "r.(?)" "p.(Met282Leu)" "" "0000659687" "00023869" "50" "685" "0" "685" "0" "c.685A>G" "r.(?)" "p.(Met229Val)" "" "0000659719" "00023869" "50" "796" "0" "796" "0" "c.796A>G" "r.(?)" "p.(Thr266Ala)" "" "0000670106" "00023869" "10" "844" "0" "844" "0" "c.844A>C" "r.(?)" "p.(Met282Leu)" "" "0000674014" "00023869" "70" "460" "0" "460" "0" "c.460C>G" "r.spl" "p.(His154Asp)" "" "0000682328" "00023869" "90" "858" "0" "861" "0" "c.858_861dup" "r.(?)" "p.(Arg288LeufsTer10)" "" "0000682329" "00023869" "30" "1062" "0" "1062" "0" "c.1062G>T" "r.(?)" "p.(Thr354=)" "" "0000682330" "00023869" "30" "10596" "0" "10596" "0" "c.*9423C>T" "r.(=)" "p.(=)" "" "0000693514" "00023869" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Ala136Thr)" "" "0000693515" "00023869" "50" "39810" "0" "39810" "0" "c.*38637C>A" "r.(=)" "p.(=)" "" "0000693516" "00023869" "30" "56778" "0" "56778" "0" "c.*55605C>A" "r.(=)" "p.(=)" "" "0000693517" "00023869" "30" "105795" "0" "105795" "0" "c.*104622C>G" "r.(=)" "p.(=)" "" "0000693518" "00023869" "50" "105919" "0" "105919" "0" "c.*104746C>G" "r.(=)" "p.(=)" "" "0000698166" "00023869" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72Cys)" "" "0000728748" "00023869" "30" "759" "10" "759" "10" "c.759+10C>G" "r.(=)" "p.(=)" "" "0000728749" "00023869" "50" "883" "0" "883" "0" "c.883A>G" "r.(?)" "p.(Ser295Gly)" "" "0000728750" "00023869" "90" "936" "0" "939" "0" "c.936_939del" "r.(?)" "p.(Ser312ArgfsTer13)" "" "0000785866" "00023869" "90" "1000" "0" "1002" "0" "c.1000_1002del" "r.(?)" "p.(Glu334del)" "11" "0000786981" "00023869" "70" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(Tyr161=)" "5" "0000787347" "00023869" "50" "1009" "-31" "1009" "-8" "c.1009-31_1009-8del" "r.spl" "p.?" "10i" "0000788735" "00023869" "70" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132*)" "4" "0000810221" "00023869" "30" "798" "0" "798" "0" "c.798A>G" "r.(?)" "p.(Thr266=)" "" "0000810222" "00023869" "30" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Asp372Asn)" "" "0000810223" "00023869" "30" "10652" "0" "10652" "0" "c.*9479G>T" "r.(=)" "p.(=)" "" "0000810224" "00023869" "30" "14315" "0" "14315" "0" "c.*13142C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002832" "0000000210" "0000010834" "0000032781" "0000058953" "0000036557" "0000063682" "0000036558" "0000063683" "0000036559" "0000063684" "0000036560" "0000063685" "0000036561" "0000063686" "0000036562" "0000063687" "0000081008" "0000130094" "0000101214" "0000163726" "0000173189" "0000393046" "0000173190" "0000393047" "0000174210" "0000401225" "0000174454" "0000401226" "0000181075" "0000404711" "0000184022" "0000407989" "0000272625" "0000626561" "0000275308" "0000629272" "0000275339" "0000629303" "0000275347" "0000629311" "0000275349" "0000629313" "0000277198" "0000631942" "0000296179" "0000652868" "0000297077" "0000659687" "0000297103" "0000659719" "0000306418" "0000670106" "0000307376" "0000674014" "0000316040" "0000698166" "0000374953" "0000785866" "0000375630" "0000786981" "0000375996" "0000787347" "0000376725" "0000788735"