### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CPS1)
# 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}}"
"CPS1"	"carbamoyl-phosphate synthase 1"	"2"	"q34"	"unknown"	"LRG_336"	"UD_144414987275"	""	""	""	"1"	"2323"	"1373"	"608307"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-09 10:46:13"	""	""	"00005"	"2021-09-08 12:42:57"


## 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}}"
"00000059"	"CPS1"	"transcript variant 1"	"001"	"NM_001122633.2"	""	"NP_001116105.1"	""	""	""	"-82"	"5643"	"4521"	"210477682"	"210679107"	"00001"	"2020-12-09 10:49:48"	""	""
"00000060"	"CPS1"	"transcript variant 2"	"002"	"NM_001875.4"	""	"NP_001866.2"	""	""	""	"-135"	"5625"	"4503"	"210556599"	"210679107"	"00001"	"2020-12-09 11:07:50"	""	""


## 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}}"
"00038"	"CPS1D"	"carbamoylphosphate synthetase I deficiency"	""	""	""	""	""	"00001"	"2020-12-09 10:45:39"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CPS1"	"00038"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00000238"	""	""	""	"1"	""	"00002"	"{PMID:Ernie Zuraida Ali et al. 2016):26440671}"	""	""	"Malaysia"	""	""	"F"
"00000239"	""	""	""	"1"	""	"00002"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671}"	""	""	"Malaysia"	""	""	"M"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000238"	"00038"
"00000239"	"00038"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00038
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000123"	"00038"	"00000238"	"00002"	""	"Familial, autosomal recessive"
"0000000124"	"00038"	"00000239"	"00002"	""	"Familial, autosomal recessive"


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000253"	"00000238"	"1"	"00002"	"00002"	"2020-12-09 10:59:43"	""	""	"PCR;SEQ"	"DNA"
"0000000254"	"00000239"	"1"	"00002"	"00002"	"2020-12-09 11:41:11"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000253"	"CPS1"
"0000000254"	"CPS1"


## 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 = 10
"{{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}}"
"0000001189"	"3"	"90"	"2"	"210660488"	"210660488"	"subst"	"0"	"00002"	"CPS1_000001"	"g.210660488A>T"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671}"	""	""	""
"0000001190"	"1"	"90"	"2"	"210576477"	"210576477"	"subst"	"0"	"00002"	"CPS1_000002"	"g.210576477C>A"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671}"	""	""	"rs121909187"
"0000001191"	"2"	"90"	"2"	"210660488"	"210660488"	"subst"	"0"	"00002"	"CPS1_000001"	"g.210660488A>T"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671}"	""	""	""
"0000001192"	"1"	"50"	"2"	"210579762"	"210579762"	"subst"	"0"	"00002"	"CPS1_000003"	"g.210579762C>T"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671},  {dbSNP:rs1553509661},  {ClinVar: 556326}"	""	""	"rs1553509661"
"0000001193"	"3"	"90"	"2"	"210663174"	"210663174"	"del"	"0"	"00002"	"CPS1_000004"	"g.210663174delT"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671}"	""	""	""
"0000001194"	"1"	"90"	"2"	"210612132"	"210612132"	"subst"	"0"	"00002"	"CPS1_000005"	"g.210612132C>G"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671} ,  {dbSNP:rs201716417}, {ClinVar: 656636}"	""	""	"rs201716417"
"0000001195"	"2"	"90"	"2"	"210668271"	"210668282"	"del"	"0"	"00002"	"CPS1_000006"	"g.210668271_210668282del"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671}"	""	""	""
"0000001196"	"0"	"90"	"2"	"210612274"	"210612274"	"subst"	"0"	"00002"	"CPS1_000007"	"g.210612274G>A"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671},   {dbSNP:rs767694281},  {ClinVar: 659565}"	""	""	"rs767694281"
"0000001197"	"1"	"90"	"2"	"210600647"	"210600647"	"subst"	"0"	"00002"	"CPS1_000008"	"g.210600647C>T"	"1/2"	"{PMID:Ernie Zuraida Ali et al. (2016):26440671}"	""	""	"rs397514730"
"0000001198"	"2"	"90"	"2"	"210660488"	"210660488"	"subst"	"0"	"00002"	"CPS1_000001"	"g.210660488A>T"	"1/7"	"{PMID:Ernie Zuraida Ali et al. (2016):264440671}"	""	""	""


## 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 CPS1
## Count = 10
"{{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}}"
"0000001189"	"00000060"	"90"	"3760"	"0"	"3760"	"0"	"c.3760A>T"	"32"	"p.(Ile1254Phe)"	"r.(?)"	""	""	""
"0000001190"	"00000060"	"90"	"368"	"0"	"368"	"0"	"c.368C>A"	"3"	"p.(Ser123Tyr)"	"r.(?)"	""	""	""
"0000001191"	"00000060"	"90"	"3760"	"0"	"3760"	"0"	"c.3760A>T"	"32"	"p.(Ile1254Phe)"	"r.(?)"	""	""	""
"0000001192"	"00000060"	"50"	"520"	"0"	"520"	"0"	"c.520C>T"	"5"	"p.(Arg174Trp)"	"r.(?)"	""	""	"{ClinVar: 556326}"
"0000001193"	"00000060"	"90"	"3979"	"0"	"3979"	"0"	"c.3979delT"	"33"	"p.(Cys1327Valfs*21)"	"r.(?)"	""	""	""
"0000001194"	"00000060"	"90"	"2407"	"0"	"2407"	"0"	"c.2407C>G"	"20"	"p.(Arg803Gly)"	"r.(?)"	""	""	"{ClinVar: 656636}"
"0000001195"	"00000060"	"90"	"4088"	"0"	"4099"	"0"	"c.4088_4099del"	"34"	"p.(Leu1363_Ile1366del)"	"r.(?)"	""	""	""
"0000001196"	"00000060"	"90"	"2549"	"0"	"2549"	"0"	"c.2549G>A"	"20"	"p.(Arg850His)"	"r.(?)"	""	""	"{ClinVar: 659565}"
"0000001197"	"00000060"	"90"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"15"	"p.(Gln548*)"	"r.(?)"	""	""	""
"0000001198"	"00000060"	"90"	"3760"	"0"	"3760"	"0"	"c.3760A>T"	"32"	"p.(Ile1254Phe)"	"r.(?)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{variantid}}"
"0000000253"	"0000001189"
"0000000253"	"0000001190"
"0000000253"	"0000001191"
"0000000253"	"0000001192"
"0000000253"	"0000001193"
"0000000253"	"0000001194"
"0000000253"	"0000001195"
"0000000253"	"0000001196"
"0000000254"	"0000001197"
"0000000254"	"0000001198"