### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PDHB)
# 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}}"
"PDHB"	"pyruvate dehydrogenase (lipoamide) beta"	"3"	"p21.1-p14.2"	"unknown"	"NG_016860.1"	"UD_142494715102"	""	"http://www.LOVD.nl/PDHB"	""	"1"	"8808"	"5162"	"179060"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/PDHB_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-02-24 22:08:00"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00015907"	"PDHB"	"transcript variant 1"	"002"	"NM_000925.3"	""	"NP_000916.2"	""	""	""	"-43"	"1484"	"1080"	"58419579"	"58413357"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"03552"	"PDHBD"	"pyruvate dehydrogenase e1-beta deficiency (PDHBD)"	""	"614111"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2015-02-24 22:12:54"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PDHB"	"03552"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00032716"	""	""	""	"1"	""	"01236"	""	""	"M"	"no"	"Spain"	"16y"	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00032716"	"03552"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 03552
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000026148"	"03552"	"00032716"	"01236"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000032784"	"00032716"	"1"	"01236"	"01236"	"2015-02-23 14:18:11"	""	""	"PCRdig;RT-PCR;SEQ;SEQ-NG-I"	"DNA;RNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000032784"	"PDHB"


## 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 = 13
"{{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}}"
"0000058956"	"21"	"70"	"3"	"58417322"	"58417322"	"subst"	"2.43742E-5"	"01236"	"PDHB_000002"	"g.58417322T>C"	""	""	""	""	""	"Uniparental disomy, maternal allele"	""	""	"0"	""	""	"g.58431595T>C"	""	"likely pathogenic"	""
"0000058957"	"11"	"70"	"3"	"58419494"	"58419494"	"subst"	"0"	"01236"	"PDHB_000001"	"g.58419494C>T"	""	""	""	""	""	"Uniparental disomy, paternal allele"	""	""	"0"	""	""	"g.58433767C>T"	""	"likely pathogenic"	""
"0000249365"	"0"	"30"	"3"	"58417676"	"58417676"	"subst"	"0.00248574"	"02325"	"PDHB_000007"	"g.58417676A>G"	""	""	""	"PDHB(NM_000925.3):c.132T>C (p.D44=), PDHB(NM_000925.4):c.132T>C (p.D44=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58431949A>G"	""	"likely benign"	""
"0000296872"	"0"	"30"	"3"	"58417610"	"58417610"	"subst"	"0.00139706"	"02325"	"PDHB_000006"	"g.58417610T>C"	""	""	""	"PDHB(NM_000925.3):c.198A>G (p.A66=), PDHB(NM_000925.4):c.198A>G (p.A66=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58431883T>C"	""	"likely benign"	""
"0000296873"	"0"	"10"	"3"	"58416538"	"58416538"	"subst"	"0.996"	"02325"	"PDHB_000005"	"g.58416538T>C"	""	""	""	"PDHB(NM_000925.4):c.435A>G (p.R145=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58430811T>C"	""	"benign"	""
"0000296874"	"0"	"50"	"3"	"58415437"	"58415437"	"subst"	"2.43752E-5"	"02325"	"PDHB_000004"	"g.58415437C>T"	""	""	""	"PDHB(NM_000925.4):c.790G>A (p.E264K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58429710C>T"	""	"VUS"	""
"0000305405"	"0"	"10"	"3"	"58414275"	"58414275"	"subst"	"1.2183E-5"	"01943"	"PDHB_000003"	"g.58414275T>C"	""	""	""	"PDHB(NM_000925.3):c.859A>G (p.N287D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58428548T>C"	""	"benign"	""
"0000520545"	"0"	"30"	"3"	"58417304"	"58417304"	"subst"	"0.00479741"	"02325"	"PDHB_000008"	"g.58417304A>G"	""	""	""	"PDHB(NM_000925.4):c.303+16T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58431577A>G"	""	"likely benign"	""
"0000520546"	"0"	"30"	"3"	"58417676"	"58417676"	"subst"	"0.00248574"	"01943"	"PDHB_000007"	"g.58417676A>G"	""	""	""	"PDHB(NM_000925.3):c.132T>C (p.D44=), PDHB(NM_000925.4):c.132T>C (p.D44=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58431949A>G"	""	"likely benign"	""
"0000801360"	"0"	"30"	"3"	"58415529"	"58415529"	"subst"	"0.000410236"	"01943"	"PDHB_000009"	"g.58415529G>A"	""	""	""	"PDHB(NM_000925.3):c.701-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801361"	"0"	"30"	"3"	"58416496"	"58416496"	"subst"	"3.24852E-5"	"01943"	"PDHB_000010"	"g.58416496T>G"	""	""	""	"PDHB(NM_000925.3):c.477A>C (p.S159=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801362"	"0"	"30"	"3"	"58417610"	"58417610"	"subst"	"0.00139706"	"01943"	"PDHB_000006"	"g.58417610T>C"	""	""	""	"PDHB(NM_000925.3):c.198A>G (p.A66=), PDHB(NM_000925.4):c.198A>G (p.A66=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001051388"	"0"	"50"	"3"	"58419520"	"58419520"	"subst"	"0"	"01804"	"PDHB_000011"	"g.58419520C>A"	""	""	""	"PDHB(NM_000925.4):c.17G>T (p.(Gly6Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## 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 PDHB
## Count = 13
"{{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}}"
"0000058956"	"00015907"	"70"	"301"	"0"	"301"	"0"	"c.301A>G"	"r.301a>g"	"p.Met101Val"	"5"
"0000058957"	"00015907"	"70"	"42"	"1"	"42"	"1"	"c.42+1G>A"	"r.spl"	"p.0?"	"1i"
"0000249365"	"00015907"	"30"	"132"	"0"	"132"	"0"	"c.132T>C"	"r.(?)"	"p.(Asp44=)"	""
"0000296872"	"00015907"	"30"	"198"	"0"	"198"	"0"	"c.198A>G"	"r.(?)"	"p.(Ala66=)"	""
"0000296873"	"00015907"	"10"	"435"	"0"	"435"	"0"	"c.435="	"r.(=)"	"p.(Arg145=)"	""
"0000296874"	"00015907"	"50"	"790"	"0"	"790"	"0"	"c.790G>A"	"r.(?)"	"p.(Glu264Lys)"	""
"0000305405"	"00015907"	"10"	"859"	"0"	"859"	"0"	"c.859A>G"	"r.(?)"	"p.(Asn287Asp)"	""
"0000520545"	"00015907"	"30"	"303"	"16"	"303"	"16"	"c.303+16T>C"	"r.(=)"	"p.(=)"	""
"0000520546"	"00015907"	"30"	"132"	"0"	"132"	"0"	"c.132T>C"	"r.(?)"	"p.(Asp44=)"	""
"0000801360"	"00015907"	"30"	"701"	"-3"	"701"	"-3"	"c.701-3C>T"	"r.spl?"	"p.?"	""
"0000801361"	"00015907"	"30"	"477"	"0"	"477"	"0"	"c.477A>C"	"r.(?)"	"p.(Ser159=)"	""
"0000801362"	"00015907"	"30"	"198"	"0"	"198"	"0"	"c.198A>G"	"r.(?)"	"p.(Ala66=)"	""
"0001051388"	"00015907"	"50"	"17"	"0"	"17"	"0"	"c.17G>T"	"r.(?)"	"p.(Gly6Val)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000032784"	"0000058956"
"0000032784"	"0000058957"