### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDHX) # 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}}" "PDHX" "pyruvate dehydrogenase complex, component X" "11" "p13" "unknown" "NG_013368.1" "UD_132118548169" "" "https://www.LOVD.nl/PDHX" "" "1" "21350" "8050" "608769" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PDHX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-07 19:36:39" "00000" "2022-05-09 15:51:19" ## 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}}" "00015908" "PDHX" "transcript variant 1" "001" "NM_003477.2" "" "NP_003468.2" "" "" "" "-526" "2462" "1506" "34937677" "35017675" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01886" "PDHXD" "Pyruvate dehydrogenase e3-binding protein deficiency" "AR" "245349" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PDHX" "01886" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00207720" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00207758" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00207761" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00229659" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00229660" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00290379" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290380" "" "" "" "194" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290381" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304302" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00207720" "00198" "00229659" "00198" "00229660" "00198" "00290379" "00198" "00290380" "00198" "00290381" "00198" "00304302" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01886 ## Count = 5 "{{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}}" "0000155510" "00198" "00207720" "01807" "Unknown" "" "Dystonia (HP:0001332); Paroxysmal dyskinesia (HP:0007166)" "" "" "" "" "" "" "" "" "" "" "" "0000155545" "00198" "00207758" "01164" "Unknown" "" "HP:0001250 (Seizures)" "" "" "" "" "" "" "" "" "" "" "" "0000155547" "00198" "00207761" "01164" "Unknown" "" "HP:0001250 (Seizures); HP:0007018 (Attention deficit hyperactivity disorder)" "" "" "" "" "" "" "" "" "" "" "" "0000172884" "00198" "00229659" "01807" "Unknown" "" "HP:0007183 (Focal T2 hyperintense basal ganglia lesion)" "" "" "" "" "" "" "" "" "" "" "" "0000172885" "00198" "00229660" "01807" "Unknown" "" "HP:0007183 (Focal T2 hyperintense basal ganglia lesion)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208761" "00207720" "1" "01807" "01807" "2018-11-30 12:33:11" "" "" "SEQ" "DNA" "" "" "0000208798" "00207758" "1" "01164" "01164" "2018-11-30 14:23:06" "" "" "SEQ-NG" "DNA" "" "" "0000208801" "00207761" "1" "01164" "01164" "2018-11-30 14:23:06" "" "" "SEQ-NG" "DNA" "" "" "0000230752" "00229659" "1" "01807" "01807" "2019-04-08 10:01:45" "" "" "SEQ" "DNA" "" "" "0000230753" "00229660" "1" "01807" "01807" "2019-04-08 10:01:47" "" "" "SEQ" "DNA" "" "" "0000291547" "00290379" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291548" "00290380" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291549" "00290381" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305431" "00304302" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 47 "{{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}}" "0000249155" "0" "10" "11" "34937901" "34937901" "subst" "0.767406" "02325" "APIP_000001" "g.34937901A>G" "" "" "" "APIP(NM_015957.4):c.-70T>C, PDHX(NM_003477.3):c.-302A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34916354A>G" "" "benign" "" "0000259119" "0" "10" "11" "34937931" "34937931" "subst" "0.426852" "02325" "APIP_000002" "g.34937931G>A" "" "" "" "APIP(NM_015957.4):c.-100C>T, PDHX(NM_001135024.1):c.13G>A (p.G5S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34916384G>A" "" "benign" "" "0000296875" "0" "30" "11" "34938038" "34938038" "subst" "0.0000129009" "02325" "PDHX_000001" "g.34938038G>A" "" "" "" "PDHX(NM_003477.3):c.-165G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34916491G>A" "" "likely benign" "" "0000296876" "0" "30" "11" "35016499" "35016499" "subst" "0.00000813915" "02325" "PDHX_000009" "g.35016499C>G" "" "" "" "PDHX(NM_003477.3):c.1286C>G (p.T429S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34994952C>G" "" "likely benign" "" "0000296878" "0" "50" "11" "34952961" "34952961" "subst" "0.0000123085" "02325" "PDHX_000003" "g.34952961T>G" "" "" "" "PDHX(NM_003477.3):c.171T>G (p.I57M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34931414T>G" "" "VUS" "" "0000296880" "0" "50" "11" "34969140" "34969140" "subst" "0.00000406164" "02325" "PDHX_000005" "g.34969140T>C" "" "" "" "PDHX(NM_003477.3):c.329T>C (p.L110S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34947593T>C" "" "VUS" "" "0000296881" "0" "10" "11" "34938265" "34938265" "subst" "0.768523" "02325" "PDHX_000002" "g.34938265C>T" "" "" "" "PDHX(NM_003477.3):c.63C>T (p.P21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34916718C>T" "" "benign" "" "0000296882" "0" "30" "11" "34988294" "34988294" "subst" "0.000706921" "02325" "PDHX_000007" "g.34988294C>T" "" "" "" "PDHX(NM_003477.3):c.749C>T (p.T250I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34966747C>T" "" "likely benign" "" "0000296883" "0" "10" "11" "34991727" "34991727" "subst" "0.64673" "02325" "PDHX_000008" "g.34991727T>C" "" "" "" "PDHX(NM_003477.3):c.858T>C (p.V286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34970180T>C" "" "benign" "" "0000337834" "0" "10" "11" "34999745" "34999745" "subst" "0.604731" "02327" "PDHX_000010" "g.34999745C>G" "" "" "" "PDHX(NM_003477.3):c.1023+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34978198C>G" "" "benign" "" "0000340901" "0" "10" "11" "34938265" "34938265" "subst" "0.768523" "02327" "PDHX_000002" "g.34938265C>T" "" "" "" "PDHX(NM_003477.3):c.63C>T (p.P21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34916718C>T" "" "benign" "" "0000341052" "0" "10" "11" "34991727" "34991727" "subst" "0.64673" "02327" "PDHX_000008" "g.34991727T>C" "" "" "" "PDHX(NM_003477.3):c.858T>C (p.V286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34970180T>C" "" "benign" "" "0000438718" "3" "50" "11" "34988189" "34988189" "subst" "0.00000812249" "01807" "PDHX_000011" "g.34988189A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.34966642A>G" "" "VUS" "" "0000438768" "0" "50" "11" "34988219" "34988219" "subst" "0.00058081" "01164" "PDHX_000012" "g.34988219C>T" "" "" "" "" "ACMG grading: BP4; probably not pathogenic, gnomAD MAF 0.0006" "Germline" "" "rs148645836" "0" "" "" "g.34966672C>T" "" "VUS" "ACMG" "0000438769" "0" "50" "11" "35006178" "35006178" "subst" "0" "01164" "PDHX_000013" "g.35006178A>C" "" "" "" "" "ACMG grading: PP3,PM2" "Germline" "" "" "0" "" "" "g.34984631A>C" "" "VUS" "ACMG" "0000438773" "0" "50" "11" "34988219" "34988219" "subst" "0.00058081" "01164" "PDHX_000012" "g.34988219C>T" "" "" "" "" "probably not pathogenic, gnomAD MAF 0.0006" "Germline" "" "rs148645836" "0" "" "" "g.34966672C>T" "" "VUS" "ACMG" "0000438774" "0" "50" "11" "35006178" "35006178" "subst" "0" "01164" "PDHX_000013" "g.35006178A>C" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "" "0" "" "" "g.34984631A>C" "" "VUS" "ACMG" "0000472372" "3" "70" "11" "34988189" "34988189" "subst" "0.00000812249" "01807" "PDHX_000011" "g.34988189A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.34966642A>G" "" "likely pathogenic" "" "0000472373" "3" "70" "11" "34988189" "34988189" "subst" "0.00000812249" "01807" "PDHX_000011" "g.34988189A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.34966642A>G" "" "likely pathogenic" "" "0000543840" "0" "50" "11" "34937926" "34937926" "subst" "0.000129322" "01943" "APIP_000003" "g.34937926C>G" "" "" "" "PDHX(NM_001135024.1):c.8C>G (p.S3*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34916379C>G" "" "VUS" "" "0000543841" "0" "30" "11" "34938001" "34938001" "subst" "0.124361" "01804" "APIP_000004" "g.34938001A>G" "" "" "" "PDHX(NM_001135024.1):c.83A>G (p.(Glu28Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34916454A>G" "" "likely benign" "" "0000543842" "0" "30" "11" "34953034" "34953034" "subst" "0.0121424" "01804" "APIP_000005" "g.34953034G>A" "" "" "" "PDHX(NM_001135024.1):c.196+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34931487G>A" "" "likely benign" "" "0000543843" "0" "50" "11" "34969110" "34969112" "dup" "0" "02325" "APIP_000006" "g.34969110_34969112dup" "" "" "" "PDHX(NM_003477.2):c.299_301dupTTA (p.V100_T101insI), PDHX(NM_003477.3):c.299_301dupTTA (p.V100_T101insI)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34947563_34947565dup" "" "VUS" "" "0000543844" "0" "10" "11" "34969112" "34969112" "subst" "0.219077" "02327" "APIP_000007" "g.34969112A>G" "" "" "" "PDHX(NM_003477.3):c.301A>G (p.T101A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34947565A>G" "" "benign" "" "0000543845" "0" "10" "11" "34969112" "34969112" "subst" "0.219077" "02325" "APIP_000007" "g.34969112A>G" "" "" "" "PDHX(NM_003477.3):c.301A>G (p.T101A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34947565A>G" "" "benign" "" "0000543846" "0" "10" "11" "34981990" "34981990" "subst" "0.00142211" "01943" "APIP_000008" "g.34981990G>A" "" "" "" "PDHX(NM_003477.2):c.566G>A (p.R189H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34960443G>A" "" "benign" "" "0000543848" "0" "50" "11" "34982064" "34982064" "subst" "0.000638497" "01943" "APIP_000009" "g.34982064G>C" "" "" "" "PDHX(NM_003477.2):c.640G>C (p.E214Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34960517G>C" "" "VUS" "" "0000543851" "0" "10" "11" "34999745" "34999745" "subst" "0.604731" "02325" "PDHX_000010" "g.34999745C>G" "" "" "" "PDHX(NM_003477.3):c.1023+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34978198C>G" "" "benign" "" "0000543853" "0" "50" "11" "35006289" "35006292" "del" "0" "01943" "APIP_000013" "g.35006289_35006292del" "" "" "" "PDHX(NM_003477.2):c.1182+14_1182+17delAAGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34984742_34984745del" "" "VUS" "" "0000543854" "0" "10" "11" "35016544" "35016544" "subst" "0.00128177" "01943" "APIP_000014" "g.35016544G>A" "" "" "" "PDHX(NM_003477.2):c.1331G>A (p.R444K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34994997G>A" "" "benign" "" "0000543855" "0" "30" "11" "35016675" "35016675" "subst" "0.0000162629" "01943" "APIP_000015" "g.35016675A>G" "" "" "" "PDHX(NM_003477.2):c.1462A>G (p.K488E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34995128A>G" "" "likely benign" "" "0000622626" "0" "30" "11" "34978999" "34978999" "subst" "0.000146233" "01943" "PDHX_000006" "g.34978999T>C" "" "" "" "PDHX(NM_003477.2):c.411T>C (p.D137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34957452T>C" "" "likely benign" "" "0000648236" "1" "50" "11" "34938246" "34938246" "subst" "0.000552993" "03575" "PDHX_000014" "g.34938246G>A" "17/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs387906998}" "Germline" "" "rs387906998" "0" "" "" "g.34916699G>A" "" "VUS" "" "0000648237" "1" "10" "11" "34982069" "34982069" "subst" "0.0522326" "03575" "PDHX_000015" "g.34982069T>C" "194/2746 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "194 heterozygous; {DB:CLININrs2767035}" "Germline" "" "rs2767035" "0" "" "" "g.34960522T>C" "" "benign" "" "0000648238" "1" "50" "11" "34999682" "34999682" "subst" "0.00623803" "03575" "APIP_000011" "g.34999682G>C" "26/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 26 heterozygous, no homozygous; {DB:CLININrs35560997}" "Germline" "" "rs35560997" "0" "" "" "g.34978135G>C" "" "VUS" "" "0000656782" "0" "30" "11" "34982001" "34982001" "subst" "0.0000650031" "01943" "APIP_000016" "g.34982001G>C" "" "" "" "PDHX(NM_003477.2):c.577G>C (p.E193Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34960454G>C" "" "likely benign" "" "0000669119" "3" "10" "11" "34982069" "34982069" "subst" "0.0522326" "03575" "PDHX_000015" "g.34982069T>C" "28/2746 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 homozygous; {DB:CLININrs2767035}" "Germline" "" "rs2767035" "0" "" "" "g.34960522T>C" "" "benign" "" "0000691055" "0" "30" "11" "34979062" "34979062" "subst" "0.000580833" "01943" "APIP_000017" "g.34979062G>A" "" "" "" "PDHX(NM_003477.2):c.474G>A (p.E158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723429" "0" "50" "11" "34938284" "34938284" "subst" "0.0000986453" "02329" "APIP_000018" "g.34938284C>T" "" "" "" "PDHX(NM_003477.2):c.82C>T (p.L28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723430" "0" "50" "11" "34969110" "34969112" "dup" "0" "02329" "APIP_000006" "g.34969110_34969112dup" "" "" "" "PDHX(NM_003477.2):c.299_301dupTTA (p.V100_T101insI), PDHX(NM_003477.3):c.299_301dupTTA (p.V100_T101insI)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723431" "0" "30" "11" "34978999" "34978999" "subst" "0.000146233" "02330" "PDHX_000006" "g.34978999T>C" "" "" "" "PDHX(NM_003477.2):c.411T>C (p.D137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723432" "0" "30" "11" "34988244" "34988244" "subst" "0.0000324929" "01943" "APIP_000019" "g.34988244A>G" "" "" "" "PDHX(NM_003477.2):c.699A>G (p.P233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805097" "0" "50" "11" "34969154" "34969154" "subst" "0" "01943" "APIP_000020" "g.34969154G>T" "" "" "" "PDHX(NM_003477.2):c.342+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805098" "0" "30" "11" "34979114" "34979114" "subst" "0.0000609513" "01943" "APIP_000021" "g.34979114A>G" "" "" "" "PDHX(NM_003477.2):c.526A>G (p.I176V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852890" "0" "30" "11" "34988219" "34988219" "subst" "0.00058081" "01943" "PDHX_000012" "g.34988219C>T" "" "" "" "PDHX(NM_003477.2):c.674C>T (p.T225M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862524" "0" "50" "11" "34910348" "34910348" "del" "0" "01943" "APIP_000022" "g.34910348del" "" "" "" "APIP(NM_015957.4):c.283delA (p.S95Afs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862525" "0" "30" "11" "35016716" "35016716" "subst" "0.000215482" "01943" "APIP_000023" "g.35016716C>T" "" "" "" "PDHX(NM_003477.2):c.1503C>T (p.A501=)" "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 PDHX ## Count = 47 "{{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}}" "0000249155" "00015908" "10" "-302" "0" "-302" "0" "c.-302A>G" "r.(?)" "p.(=)" "" "0000259119" "00015908" "10" "-272" "0" "-272" "0" "c.-272G>A" "r.(?)" "p.(=)" "" "0000296875" "00015908" "30" "-165" "0" "-165" "0" "c.-165G>A" "r.(?)" "p.(=)" "" "0000296876" "00015908" "30" "1286" "0" "1286" "0" "c.1286C>G" "r.(?)" "p.(Thr429Ser)" "" "0000296878" "00015908" "50" "171" "0" "171" "0" "c.171T>G" "r.(?)" "p.(Ile57Met)" "" "0000296880" "00015908" "50" "329" "0" "329" "0" "c.329T>C" "r.(?)" "p.(Leu110Ser)" "" "0000296881" "00015908" "10" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Pro21=)" "" "0000296882" "00015908" "30" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" "" "0000296883" "00015908" "10" "858" "0" "858" "0" "c.858T>C" "r.(?)" "p.(Val286=)" "" "0000337834" "00015908" "10" "1023" "16" "1023" "16" "c.1023+16C>G" "r.(=)" "p.(=)" "" "0000340901" "00015908" "10" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Pro21=)" "" "0000341052" "00015908" "10" "858" "0" "858" "0" "c.858T>C" "r.(?)" "p.(Val286=)" "" "0000438718" "00015908" "50" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asp215Gly)" "" "0000438768" "00015908" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.Thr225Met" "" "0000438769" "00015908" "50" "1085" "0" "1085" "0" "c.1085A>C" "r.(?)" "p.Asp362Ala" "" "0000438773" "00015908" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.Thr225Met" "" "0000438774" "00015908" "50" "1085" "0" "1085" "0" "c.1085A>C" "r.(?)" "p.Asp362Ala" "" "0000472372" "00015908" "70" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asp215Gly)" "" "0000472373" "00015908" "70" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asp215Gly)" "" "0000543840" "00015908" "50" "-277" "0" "-277" "0" "c.-277C>G" "r.(?)" "p.(=)" "" "0000543841" "00015908" "30" "-202" "0" "-202" "0" "c.-202A>G" "r.(?)" "p.(=)" "" "0000543842" "00015908" "30" "241" "3" "241" "3" "c.241+3G>A" "r.spl?" "p.?" "" "0000543843" "00015908" "50" "299" "0" "301" "0" "c.299_301dup" "r.(?)" "p.(Val100_Thr101insIle)" "" "0000543844" "00015908" "10" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Thr101Ala)" "" "0000543845" "00015908" "10" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Thr101Ala)" "" "0000543846" "00015908" "10" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189His)" "" "0000543848" "00015908" "50" "640" "0" "640" "0" "c.640G>C" "r.(?)" "p.(Glu214Gln)" "" "0000543851" "00015908" "10" "1023" "16" "1023" "16" "c.1023+16C>G" "r.(=)" "p.(=)" "" "0000543853" "00015908" "50" "1182" "14" "1182" "17" "c.1182+14_1182+17del" "r.(=)" "p.(=)" "" "0000543854" "00015908" "10" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444Lys)" "" "0000543855" "00015908" "30" "1462" "0" "1462" "0" "c.1462A>G" "r.(?)" "p.(Lys488Glu)" "" "0000622626" "00015908" "30" "411" "0" "411" "0" "c.411T>C" "r.(?)" "p.(Asp137=)" "" "0000648236" "00015908" "50" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Arg15His)" "" "0000648237" "00015908" "10" "641" "4" "641" "4" "c.641+4T>C" "r.spl?" "p.?" "" "0000648238" "00015908" "50" "976" "0" "976" "0" "c.976G>C" "r.(?)" "p.(Val326Leu)" "" "0000656782" "00015908" "30" "577" "0" "577" "0" "c.577G>C" "r.(?)" "p.(Glu193Gln)" "" "0000669119" "00015908" "10" "641" "4" "641" "4" "c.641+4T>C" "r.spl?" "p.?" "" "0000691055" "00015908" "30" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Glu158=)" "" "0000723429" "00015908" "50" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Leu28=)" "" "0000723430" "00015908" "50" "299" "0" "301" "0" "c.299_301dup" "r.(?)" "p.(Val100_Thr101insIle)" "" "0000723431" "00015908" "30" "411" "0" "411" "0" "c.411T>C" "r.(?)" "p.(Asp137=)" "" "0000723432" "00015908" "30" "699" "0" "699" "0" "c.699A>G" "r.(?)" "p.(Pro233=)" "" "0000805097" "00015908" "50" "342" "1" "342" "1" "c.342+1G>T" "r.spl?" "p.?" "" "0000805098" "00015908" "30" "526" "0" "526" "0" "c.526A>G" "r.(?)" "p.(Ile176Val)" "" "0000852890" "00015908" "30" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Thr225Met)" "" "0000862524" "00015908" "50" "-27855" "0" "-27855" "0" "c.-27855del" "r.(?)" "p.(=)" "" "0000862525" "00015908" "30" "1503" "0" "1503" "0" "c.1503C>T" "r.(?)" "p.(Ala501=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000208761" "0000438718" "0000208798" "0000438768" "0000208798" "0000438769" "0000208801" "0000438773" "0000208801" "0000438774" "0000230752" "0000472372" "0000230753" "0000472373" "0000291547" "0000648236" "0000291548" "0000648237" "0000291549" "0000648238" "0000305431" "0000669119"