### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PTS)
# 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}}"
"PTS"	"6-pyruvoyltetrahydropterin synthase"	"11"	"q23.1"	"unknown"	"NG_008743.1"	"UD_144370512524"	""	""	""	"1"	"9689"	"5805"	"612719"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-25 12:02:35"	""	""	"00005"	"2021-08-01 13:34:14"


## 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}}"
"00000426"	"PTS"	"6-pyruvoyltetrahydropterin synthase"	"001"	"NM_000317.2"	""	"NP_000308.1"	""	""	""	"-79"	"856"	"438"	"112226365"	"112233973"	"00001"	"2021-03-25 12:02:36"	""	""


## 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}}"
"00093"	"HPABH-4A"	"hyperphenylalaninemia, BH4-deficient, type A (HPABH-4A, 6-pyruvoyl-tetrahydropterin synthase deficiency)"	"AD"	"261640"	""	""	""	"00001"	"2021-03-25 12:02:10"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PTS"	"00093"


## 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}}"
"00000547"	""	""	""	"1"	""	"00004"	"{PMID:Yen-Hui Chiu et al.(2012):22237589}"	""	""	"Malaysia"	"Chinese"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000547"	"00093"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00093
## Count = 0


## 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}}"
"0000000598"	"00000547"	"1"	"00004"	"00004"	"2021-03-25 12:05:33"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000598"	"PTS"


## 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 = 3
"{{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}}"
"0000002525"	"0"	"90"	"11"	"112233178"	"112233178"	"subst"	"0"	"00004"	"PTS_000001"	"g.112233178C>T"	""	"{PMID:Yen-Hui Chiu et al.(2012):22237589}"	""	""	"rs104894276"
"0000002526"	"0"	"90"	"11"	"112228628"	"112228631"	"del"	"0"	"00004"	"PTS_000002"	"g.112228628_112228631del"	""	"{PMID:Yen-Hui Chiu et al.(2012):22237589}"	""	""	"rs747260038"
"0000002527"	"0"	"90"	"11"	"112228665"	"112228665"	"subst"	"0"	"00004"	"PTS_000003"	"g.112228665A>G"	""	"{PMID:Yen-Hui Chiu et al.(2012):22237589}"	""	""	"rs104894275"


## 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 PTS
## Count = 3
"{{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/VariantOnTranscript}}"
"0000002525"	"00000426"	"90"	"259"	"0"	"259"	"0"	"c.259C>T"	""	"p.(Pro87Ser)"	"r.(?)"	""	"Pathogenic"
"0000002526"	"00000426"	"90"	"118"	"0"	"121"	"0"	"c.118_121del"	""	"p.(Phe40Glyfs*17)"	"r.(?)"	""	"Pathogenic"
"0000002527"	"00000426"	"90"	"155"	"0"	"155"	"0"	"c.155A>G"	""	"p.(Asn52Ser)"	"r.(?)"	""	"Pathogenic"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000000598"	"0000002525"
"0000000598"	"0000002526"
"0000000598"	"0000002527"