### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PRSS1)
# 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}}"
"PRSS1"	"serine protease 1"	"7"	"q34"	"unknown"	"NG_008307.3"	"UD_144432441154"	""	""	""	"1"	"9475"	"5644"	"276000"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-22 10:00:07"	""	""	"00005"	"2021-08-01 13:29:10"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00000421"	"PRSS1"	"serine protease 1"	"002"	"NM_002769.5"	""	"NP_002760.1"	""	""	""	"-13"	"796"	"744"	"142749472"	"142753072"	"00001"	"2021-03-22 10:00:07"	""	""
"00000422"	"PRSS1"	"transcript variant X1"	"001"	"XM_011516411.1"	""	"XP_011514713.1"	""	""	""	"-38"	"1475"	"1419"	"142740235"	"142753076"	"00001"	"2021-03-22 10:00:07"	""	""


## 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}}"
"00091"	"HP"	"Hereditary Pancreatitis"	""	"167800"	"pancreas"	""	""	"00001"	"2021-03-22 09:59:53"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PRSS1"	"00091"


## 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}}"
"00000533"	""	""	""	"1"	""	"00004"	"{PMID:Kek Heng Chua et al.(2011):21952138}"	""	""	"Malaysia"	"Chinese"	""	"M"
"00000635"	""	""	""	"1"	""	"00004"	"{PMID:Kek Heng Chua et al.(2011):21952138}"	""	""	"Malaysia"	"Chinese"	""	"M"
"00000636"	""	""	""	"1"	""	"00004"	"{PMID:Kek Heng Chua et al.(2011):21952138}"	""	""	"Malaysia"	"Chinese"	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000533"	"00091"
"00000635"	"00091"
"00000636"	"00091"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00091
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000224"	"00091"	"00000533"	"00004"	"abdomen CT scan showed pancreatic duct stones with distal duct dilatation and parenchymal calcification"	""
"0000000225"	"00091"	"00000636"	"00004"	"CT scan showed pancreatic calcifications"	""


## 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}}"
"0000000581"	"00000533"	"1"	"00004"	"00004"	"2021-03-22 10:03:58"	""	""	"PCR;SEQ"	"DNA"
"0000000702"	"00000635"	"1"	"00004"	"00004"	"2021-05-11 15:29:03"	""	""	"PCR;SEQ"	"DNA"
"0000000703"	"00000636"	"1"	"00004"	"00004"	"2021-05-11 15:31:02"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000581"	"PRSS1"
"0000000702"	"PRSS1"
"0000000703"	"PRSS1"


## 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 = 6
"{{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}}"
"0000002447"	"0"	"90"	"7"	"6117"	"6117"	"subst"	"0"	"00004"	"PRSS1_000002"	"g.6117A>T"	""	"{PMID:Kek Heng Chua et al.(2011):21952138}"	""	""	"rs111033566"
"0000002775"	"0"	"90"	"7"	"7716"	"7716"	"subst"	"0"	"00004"	"PRSS1_000001"	"g.7716C>T"	""	"{PMID:Kek Heng Chua et al.(2011):21952138}"	""	""	""
"0000002776"	"0"	"90"	"7"	"7716"	"7716"	"subst"	"0"	"00004"	"PRSS1_000001"	"g.7716C>T"	""	"{PMID:Kek Heng Chua et al.(2011):21952138}"	""	""	""
"0000002777"	"0"	"90"	"7"	"7716"	"7716"	"subst"	"0"	"00004"	"PRSS1_000001"	"g.7716C>T"	""	"{PMID:Kek Heng Chua et al.(2011):21952138}"	""	""	""
"0000002778"	"0"	"90"	"7"	"6117"	"6117"	"subst"	"0"	"00004"	"PRSS1_000002"	"g.6117A>T"	""	"{PMID:Kek Heng Chua et al.(2011):21952138}"	""	""	"rs111033566"
"0000002779"	"0"	"90"	"7"	"6117"	"6117"	"subst"	"0"	"00004"	"PRSS1_000002"	"g.6117A>T"	""	"{PMID:Kek Heng Chua et al.(2011):21952138}"	""	""	"rs111033566"


## 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 PRSS1
## Count = 6
"{{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}}"
"0000002447"	"00000421"	"90"	"86"	"0"	"86"	"0"	"c.86A>T"	""	"p.(Asn29Ile)"	"r.(?)"	"N291"	"Pathogenic"
"0000002775"	"00000421"	"90"	"454"	"172"	"454"	"172"	"c.454+172C>T"	"3i"	"p.(=)"	"r.(=)"	"IVS3+172C>T"	""
"0000002776"	"00000421"	"90"	"454"	"172"	"454"	"172"	"c.454+172C>T"	"3i"	"p.(=)"	"r.(=)"	"IVS3+172C>T"	""
"0000002777"	"00000421"	"90"	"454"	"172"	"454"	"172"	"c.454+172C>T"	"3i"	"p.(=)"	"r.(=)"	"IVS3+172C>T"	""
"0000002778"	"00000421"	"90"	"86"	"0"	"86"	"0"	"c.86A>T"	""	"p.(Asn29Ile)"	"r.(?)"	"N29I"	"Pathogenic"
"0000002779"	"00000421"	"90"	"86"	"0"	"86"	"0"	"c.86A>T"	""	"p.(Asn29Ile)"	"r.(?)"	"N29I"	"Pathogenic"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000581"	"0000002447"
"0000000581"	"0000002775"
"0000000702"	"0000002776"
"0000000702"	"0000002778"
"0000000703"	"0000002777"
"0000000703"	"0000002779"