### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PDGFRA)
# 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}}"
"PDGFRA"	"platelet derived growth factor receptor alpha"	"4"	"q12"	"unknown"	"LRG_309"	"UD_144430678330"	""	""	""	"1"	"8803"	"5156"	"173490"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-10 08:51:12"	""	""	"00006"	"2021-08-23 09:48:26"


## 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}}"
"00000033"	"PDGFRA"	"transcript variant 1"	"002"	"NM_006206.5"	""	"NP_006197.1"	""	""	""	"-339"	"6245"	"3270"	"54229089"	"54298247"	"00001"	"2020-11-10 08:52:04"	""	""


## 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}}"
"00020"	"OSCC"	"Oral squamous cell carcinoma"	""	""	""	""	""	"00001"	"2020-11-05 09:04:59"	""	""
"00022"	"HGSOC"	"high grade serous ovarian cancer"	""	""	""	""	""	"00001"	"2020-11-08 09:34:16"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PDGFRA"	"00020"


## 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}}"
"00000146"	""	""	""	"1"	""	"00002"	"{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}"	""	""	"Malaysia"	""	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000146"	"00022"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00020, 00022
## 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}}"
"0000000161"	"00000146"	"1"	"00002"	"00002"	"2020-11-10 09:17:28"	""	""	"SEQ-NG;PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000161"	"PDGFRA"


## 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}}"
"0000000755"	"3"	"10"	"4"	"54274888"	"54274888"	"subst"	"0"	"00002"	"PDGFRA_000001"	"g.54274888A>G"	"9"	"{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}{dbSNP:rs1873778}"	"55141055A > G"	""	"rs1873778"
"0000000759"	"0"	"10"	"4"	"54285873"	"54285873"	"subst"	"0"	"00002"	"PDGFRA_000002"	"g.54285873C>T"	"3/9"	"{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}, {dbSNP:rs2228230}, {ClinVar:259951}"	"55152040C>T"	""	"rs2228230"
"0000000760"	"3"	"10"	"4"	"54285873"	"54285873"	"subst"	"0"	"00002"	"PDGFRA_000002"	"g.54285873C>T"	"1/9"	"{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}, {dbSNP:rs2228230}, {ClinVar:259951}"	"55152040C>T"	""	"rs2228230"


## 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 PDGFRA
## 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/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000000755"	"00000033"	"10"	"1701"	"0"	"1701"	"0"	"c.1701A>G"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:259949}"
"0000000759"	"00000033"	"10"	"2472"	"0"	"2472"	"0"	"c.2472C>T"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:259951}"
"0000000760"	"00000033"	"10"	"2472"	"0"	"2472"	"0"	"c.2472C>T"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:259951}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000000161"	"0000000755"
"0000000161"	"0000000759"
"0000000161"	"0000000760"