### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PCSK9)
# 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}}"
"PCSK9"	"proprotein convertase subtilisin/kexin type 9"	"1"	"p32.3"	"unknown"	"LRG_275"	"UD_144430578762"	""	""	""	"1"	"20001"	"255738"	"607786"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-03 10:26:36"	""	""	"00005"	"2021-08-23 14:37:08"


## 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}}"
"00000051"	"PCSK9"	"transcript variant 1"	"001"	"NM_174936.3"	""	"NP_777596.2"	""	""	""	"-362"	"3348"	"2079"	"55039476"	"55064853"	"00001"	"2020-12-03 10:27:29"	""	""


## 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}}"
"00031"	"FH"	"Familial hypercholesterolemia"	""	""	""	""	""	"00001"	"2020-11-29 09:15:44"	""	""
"00045"	"-"	"Hyperhomocysteinemia"	""	"603174"	""	""	""	"00001"	"2020-12-17 10:56:01"	"00001"	"2021-07-19 11:06:07"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"PCSK9"	"00031"
"PCSK9"	"00045"


## 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}}"
"00000215"	""	""	""	"1"	""	"00002"	"{PMID:Livy Alex et al. (2012):22534770}"	""	""	"Malaysia"	""	""	""
"00000216"	""	""	""	"1"	""	"00002"	"{PMID:Say-Hean Lye et al. (2013):23593297}"	""	""	"Malaysia"	""	""	""
"00000795"	""	""	""	"1"	""	"00004"	"Mohd Aminudin Mustapha et al.(2019):https://www.researchgate.net/publication/342730227_Association_of_PCSK9_g24382G_A_with_Increased_Homocysteine_Level_among_Bidayuh_Ethnic_Group_in_Sarawak_Population"	""	""	"Sarawak"	"Bidayuh"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000215"	"00031"
"00000216"	"00031"
"00000795"	"00045"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00031, 00045
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000101"	"00031"	"00000215"	"00002"	""	"Familial, autosomal dominant"
"0000000102"	"00031"	"00000216"	"00002"	""	"Familial, autosomal dominant"


## 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}}"
"0000000230"	"00000215"	"1"	"00002"	"00002"	"2020-12-03 10:32:15"	""	""	"SEQ-NG-I"	"DNA"
"0000000231"	"00000216"	"1"	"00002"	"00002"	"2020-12-03 14:25:46"	""	""	"SEQ-NG-I"	"DNA"
"0000000889"	"00000795"	"1"	"00004"	"00004"	"2021-07-19 11:14:14"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000230"	"PCSK9"
"0000000231"	"PCSK9"
"0000000889"	"PCSK9"


## 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 = 8
"{{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}}"
"0000001093"	"0"	"70"	"1"	"55042613"	"55042613"	"subst"	"0"	"00002"	"PCSK9_000001"	"g.55042613G>A"	"1/4"	"{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs6658758}"	""	""	"rs6658758"
"0000001094"	"0"	"70"	"1"	"55053886"	"55053886"	"subst"	"0"	"00002"	"PCSK9_000002"	"g.55053886C>G"	"1/4"	"{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs28385711}"	""	""	"rs28385711"
"0000001095"	"0"	"10"	"1"	"55063929"	"55063929"	"subst"	"0"	"00002"	"PCSK9_000003"	"g.55063929C>T"	"1/4"	"{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs17111555}, {ClinVar:297721}"	""	""	"rs17111555"
"0000001096"	"0"	"10"	"1"	"55064198"	"55064198"	"subst"	"0"	"00002"	"PCSK9_000004"	"g.55064198C>T"	"1/4"	"{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs17111557}, {ClinVar:297735}"	""	""	"rs17111557"
"0000001097"	"0"	"90"	"1"	"55049561"	"55049561"	"subst"	"0"	"00002"	"PCSK9_000005"	"g.55049561C>A"	"1/3"	"{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs12084215}"	""	""	"rs12084215"
"0000001098"	"0"	"90"	"1"	"55058928"	"55058928"	"subst"	"0"	"00002"	"PCSK9_000006"	"g.55058928G>A"	"1/3"	"{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs565436}"	""	""	"rs565436"
"0000001099"	"0"	"10"	"1"	"55059470"	"55059470"	"subst"	"0"	"00002"	"PCSK9_000007"	"g.55059470C>T"	"1/3"	"{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs28362269}, {ClinVar:36668}"	""	""	"rs28362269"
"0000003076"	"0"	"90"	"1"	"24382"	"24382"	"subst"	"0"	"00004"	"PCSK9_000008"	"g.24382G>A"	""	"Mohd Aminudin Mustapha et al.(2019):https://www.researchgate.net/publication/342730227_Association_of_PCSK9_g24382G_A_with_Increased_Homocysteine_Level_among_Bidayuh_Ethnic_Group_in_Sarawak_Population"	""	""	""


## 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 PCSK9
## Count = 8
"{{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}}"
"0000001093"	"00000051"	"70"	"208"	"-1230"	"208"	"-1230"	"c.208-1230G>A"	"-"	"p.(=)"	"r.(=)"	""	""	""
"0000001094"	"00000051"	"70"	"799"	"1095"	"799"	"1095"	"c.799+1095C>G"	"5i"	"p.(=)"	"r.(=)"	""	""	""
"0000001095"	"00000051"	"10"	"2424"	"0"	"2424"	"0"	"c.*345C>T"	"-"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:297721}"
"0000001096"	"00000051"	"10"	"2693"	"0"	"2693"	"0"	"c.*614C>T"	"-"	"p.(=)"	"r.(=)"	""	""	"297735"
"0000001097"	"00000051"	"90"	"524"	"-2717"	"524"	"-2717"	"c.524-2717C>A"	"-"	"p.(=)"	"r.(=)"	""	""	""
"0000001098"	"00000051"	"90"	"1503"	"281"	"1503"	"281"	"c.1503+281G>A"	"-"	"p.(=)"	"r.(=)"	""	""	""
"0000001099"	"00000051"	"10"	"1504"	"-16"	"1504"	"-16"	"c.1504-16C>T"	"-"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:36668}"
"0000003076"	"00000051"	"90"	"-8388608"	"0"	"-8388608"	"0"	"c.-55015456G>A"	""	"p.(=)"	"r.(=)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}"	"{{variantid}}"
"0000000230"	"0000001093"
"0000000230"	"0000001094"
"0000000230"	"0000001095"
"0000000230"	"0000001096"
"0000000231"	"0000001097"
"0000000231"	"0000001098"
"0000000231"	"0000001099"
"0000000889"	"0000003076"