### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BCKDHA)
# 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}}"
"BCKDHA"	"branched chain keto acid dehydrogenase E1 subunit alpha"	"19"	"q13.2"	"unknown"	"NG_013004.1"	"UD_144408646831"	""	""	""	"1"	"986"	"593"	"608348"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-03 15:31:52"	""	""	"00006"	"2021-09-12 15:08:09"


## 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}}"
"00000052"	"BCKDHA"	"branched chain keto acid dehydrogenase E1, alpha polypeptide, transcript variant 1"	"001"	"NM_000709.3"	""	"NP_000700.1"	""	""	""	"-39"	"1735"	"1338"	"41397789"	"41425005"	"00001"	"2020-12-03 15:32:35"	""	""


## 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}}"
"00034"	"MSUD"	"maple syrup urine disease"	""	""	""	""	""	"00001"	"2020-12-03 15:31:35"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"BCKDHA"	"00034"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000217"	""	""	""	"1"	""	"00002"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}"	""	""	"Malaysia"	"Malay"	""	"F"
"00000218"	""	""	""	"1"	""	"00002"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}"	""	""	"Malaysia"	"Malay"	""	"M"
"00000612"	""	""	""	"1"	""	"00004"	"{PMID:Ernie Zuraida Ali et al.(2013):23729548}"	""	""	"(Kuala Lumpur)"	"Malay"	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000217"	"00034"
"00000218"	"00034"
"00000612"	"00034"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00034
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000103"	"00034"	"00000217"	"00002"	""	"Familial, autosomal recessive"
"0000000104"	"00034"	"00000218"	"00002"	""	"Familial, autosomal recessive"


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000232"	"00000217"	"1"	"00002"	"00002"	"2020-12-03 15:42:56"	""	""	"PCR;SEQ"	"DNA"
"0000000233"	"00000218"	"1"	"00002"	"00002"	"2020-12-03 16:10:15"	""	""	"PCR;SEQ"	"DNA"
"0000000678"	"00000612"	"1"	"00004"	"00004"	"2021-05-05 09:06:55"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000232"	"BCKDHA"
"0000000233"	"BCKDHA"
"0000000678"	"BCKDHA"


## 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 = 5
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000001100"	"0"	"50"	"19"	"41423089"	"41423089"	"subst"	"0"	"00002"	"BCKDHA_000001"	"g.41423089C>T"	"1/3"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974}, {dbSNP:rs942815730}, {ClinVar:558581}"	""	""	"rs942815730"
"0000001101"	"0"	"50"	"19"	"41419177"	"41419177"	"subst"	"0"	"00002"	"BCKDHA_000002"	"g.41419177C>T"	"1/3"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974},{dbSNP:rs201955081},{ClinVar: 643978}"	""	""	"rs201955081"
"0000001102"	"0"	"90"	"19"	"41414104"	"41414104"	"subst"	"0"	"00002"	"BCKDHA_000003"	"g.41414104G>T"	"1/3"	"{PMID:Ernie Zuraida Ali et al. (2018):30228974},{dbSNP:rs398124652},{ClinVar:50863}"	""	""	"rs398124652"
"0000001103"	"0"	"50"	"19"	"41397941"	"41397941"	"subst"	"0"	"00002"	"BCKDHA_000004"	"g.41397941T>C"	"1/2"	"{PMID:Ernie Zuraida Ali et al.(2018):30228974}, {dbSNP:rs1600956430} ,{ClinVar: 816876}"	""	""	"rs1600956430"
"0000002718"	"0"	"90"	"19"	"41414104"	"41414104"	"subst"	"0"	"00004"	"BCKDHA_000003"	"g.41414104G>T"	""	"{PMID:Ernie Zuraida Ali et al.(2013):23729548}"	""	""	"rs398124652"


## 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 BCKDHA
## Count = 5
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000001100"	"00000052"	"50"	"1087"	"0"	"1087"	"0"	"c.1087C>T"	"8"	"p.(Arg363Trp)"	"r.(?)"	""	""	"{ClinVar:558581}"
"0000001101"	"00000052"	"50"	"527"	"0"	"527"	"0"	"c.527C>T"	"5"	"p.(Ala176Val)"	"r.(?)"	""	""	"{ClinVar: 643978}"
"0000001102"	"00000052"	"90"	"431"	"0"	"431"	"0"	"c.431G>T"	"4"	"p.(Ser144Ile)"	"r.(?)"	""	""	"{ClinVar:50863}"
"0000001103"	"00000052"	"50"	"108"	"6"	"108"	"6"	"c.108+6T>C"	"1i"	"p.(=)"	"r.(=)"	""	""	"{ClinVar: 816876}"
"0000002718"	"00000052"	"90"	"431"	"0"	"431"	"0"	"c.431G>T"	"4"	"p.(Ser144Ile)"	"r.(?)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000000232"	"0000001100"
"0000000232"	"0000001101"
"0000000232"	"0000001102"
"0000000233"	"0000001103"
"0000000678"	"0000002718"