### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BTD)
# 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}}"
"BTD"	"biotinidase"	"3"	"p25.1"	"unknown"	"NG_008019.2"	"UD_144410332240"	""	""	""	"1"	"1122"	"686"	"609019"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-26 15:39:14"	""	""	"00005"	"2021-09-08 13:14:24"


## 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}}"
"00000046"	"BTD"	"transcript variant 3"	"004"	"NM_000060.4"	""	"NP_000051.1"	""	""	""	"-106"	"3782"	"1632"	"15601745"	"15647638"	"00001"	"2020-11-26 15:42:06"	""	""


## 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}}"
"00030"	"BD"	"Biotinidase deficiency"	""	""	""	""	""	"00001"	"2020-11-26 15:38:50"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"BTD"	"00030"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00000194"	""	""	""	"1"	""	"00002"	"{PMID:M Mardhiah et al. (2019):32300527}"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000194"	"00030"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00030
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000091"	"00030"	"00000194"	"00002"	""	"Familial, autosomal recessive"


## 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}}"
"0000000209"	"00000194"	"1"	"00002"	"00002"	"2020-11-26 15:47:47"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000209"	"BTD"


## 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}}"
"0000000953"	"0"	"90"	"3"	"15635477"	"15635483"	"delins"	"0"	"00002"	"BTD_000001"	"g.15635477_15635483delinsTCC"	"2/6"	"{PMID:M Mardhiah et al. (2019):32300527}, {ClinVar:38562}"	""	""	""
"0000000954"	"0"	"50"	"3"	"15644689"	"15644689"	"subst"	"0"	"00002"	"BTD_000002"	"g.15644689T>C"	"1/6"	"{PMID:M Mardhiah et al. (2019):32300527}, {dbSNP:rs397514389}, {ClinVar:25045}"	""	""	"rs397514389"
"0000000955"	"0"	"90"	"3"	"15644435"	"15644437"	"del"	"0"	"00002"	"BTD_000003"	"g.15644435_15644437del"	"1/6"	"{PMID:M Mardhiah et al. (2019):32300527}"	""	""	""
"0000000956"	"0"	"00"	"3"	"15644824"	"15644824"	"subst"	"0"	"00002"	"BTD_000004"	"g.15644824A>G"	"1/6"	"{PMID:M Mardhiah et al. (2019):32300527}, {dbSNP:rs397507176}, {ClinVar:38278}"	""	""	"rs397507176"
"0000000957"	"0"	"90"	"3"	"15645186"	"15645186"	"subst"	"0"	"00002"	"BTD_000005"	"g.15645186G>C"	"1/6"	"{PMID:M Mardhiah et al. (2019):32300527}"	"c.1130G > A p.(Asp444His)"	""	"rs587779489"


## 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 BTD
## 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}}"
"0000000953"	"00000046"	"90"	"98"	"0"	"104"	"0"	"c.98_104delinsTCC"	"2"	"p.(Cys33Phefs*36)"	"r.(?)"	""	""	""
"0000000954"	"00000046"	"50"	"833"	"0"	"833"	"0"	"c.833T>C"	"4"	"p.(Leu278Pro)"	"r.(?)"	""	""	"{ClinVar:25045}"
"0000000955"	"00000046"	"90"	"579"	"0"	"581"	"0"	"c.579_581del"	"4"	"p.(Gln193_Phe194delinsHis)"	"r.(?)"	""	""	""
"0000000956"	"00000046"	"00"	"968"	"0"	"968"	"0"	"c.968A>G"	"4"	"p.(His323Arg)"	"r.(?)"	""	""	"{ClinVar:38278}"
"0000000957"	"00000046"	"90"	"1330"	"0"	"1330"	"0"	"c.1330G>C"	"4"	"p.(Asp444His)"	"r.(?)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000000953"
"0000000209"	"0000000954"
"0000000209"	"0000000955"
"0000000209"	"0000000956"
"0000000209"	"0000000957"