### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ASL)
# 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}}"
"ASL"	"argininosuccinate lyase"	"7"	"q11.21"	"unknown"	"NG_009288.1"	"UD_144409257295"	""	""	""	"1"	"746"	"435"	"608310"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-02 11:07:52"	""	""	"00006"	"2021-09-08 15:59:46"


## 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}}"
"00000050"	"ASL"	"transcript variant 2"	"001"	"NM_000048.3"	""	"NP_000039.2"	""	""	""	"-111"	"1826"	"1395"	"66075789"	"66093343"	"00001"	"2020-12-02 11:11:14"	""	""


## 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}}"
"00033"	"ASLD"	"Argininosuccinate lyase (ASL) deficiency"	""	""	""	""	""	"00001"	"2020-12-02 11:07:34"	"00001"	"2020-12-02 11:17:04"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ASL"	"00033"


## 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}}"
"00000212"	""	""	""	"1"	""	"00002"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}"	""	""	"Malaysia"	""	""	"F"
"00000213"	""	""	""	"1"	""	"00002"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}"	""	""	"Malaysia"	""	""	"M"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000212"	"00033"
"00000213"	"00033"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00033
## Count = 0


## 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}}"
"0000000227"	"00000212"	"1"	"00002"	"00002"	"2020-12-02 11:20:13"	""	""	"PCR;SEQ"	"DNA"
"0000000228"	"00000213"	"1"	"00002"	"00002"	"2020-12-02 11:59:27"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000227"	"ASL"
"0000000228"	"ASL"


## 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}}"
"0000001066"	"3"	"50"	"7"	"66087369"	"66087369"	"subst"	"0"	"00002"	"ASL_000001"	"g.66087369G>A"	"3/8"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}, {dbSNP:rs1449589636}, {ClinVar:558682}"	""	""	"rs1449589636"
"0000001067"	"0"	"90"	"7"	"66083164"	"66083164"	"subst"	"0"	"00002"	"ASL_000002"	"g.66083164C>T"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}, {ClinVar:203626}"	""	""	""
"0000001068"	"0"	"90"	"7"	"66092857"	"66092857"	"subst"	"0"	"00002"	"ASL_000003"	"g.66092857G>C"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}"	""	""	"rs1465993279"
"0000001069"	"0"	"50"	"7"	"66083164"	"66083164"	"subst"	"0"	"00002"	"ASL_000004"	"g.66083164C>G"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}{dbSNP:rs1007569346}{ClinVar: 828118}"	""	""	"rs1007569346"
"0000001070"	"0"	"50"	"7"	"66086775"	"66086775"	"subst"	"0"	"00002"	"ASL_000005"	"g.66086775C>T"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}{dbSNP:rs369512467}{ClinVar: 348006}"	""	""	"rs369512467"
"0000001071"	"0"	"90"	"7"	"66086814"	"66086814"	"subst"	"0"	"00002"	"ASL_000006"	"g.66086814C>G"	"1/8"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}{dbSNP:rs77632964}{ClinVar: 536421}"	""	""	"rs77632964"
"0000001072"	"0"	"50"	"7"	"66087369"	"66087369"	"subst"	"0"	"00002"	"ASL_000001"	"g.66087369G>A"	"1/5"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}, {dbSNP:rs1449589636}, {ClinVar:558682}"	""	""	"rs1449589636"
"0000001073"	"3"	"50"	"7"	"66086775"	"66086775"	"subst"	"0"	"00002"	"ASL_000005"	"g.66086775C>T"	"2/5"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144},{dbSNP:rs369512467},{ClinVar: 348006}"	""	""	"rs369512467"
"0000001074"	"0"	"00"	"7"	"66086797"	"66086797"	"subst"	"0"	"00002"	"ASL_000007"	"g.66086797G>A"	"1/5"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}, {dbSNP:rs373697663}, {ClinVar:372306}"	""	""	"rs373697663"
"0000001075"	"0"	"90"	"7"	"66088866"	"66088866"	"subst"	"0"	"00002"	"ASL_000008"	"g.66088866C>T"	"1/5"	"{PMID:Ernie Zuraida Ali et al. (2019):31709144}{ClinVar:855048}"	""	""	""


## 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 ASL
## 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}}"
"0000001066"	"00000050"	"50"	"638"	"0"	"638"	"0"	"c.638G>A"	"8"	"p.(Arg213Gln)"	"r.(?)"	""	""	"{ClinVar:558682}"
"0000001067"	"00000050"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"5"	"p.(Arg146Trp)"	"r.(?)"	""	""	""
"0000001068"	"00000050"	"90"	"1340"	"0"	"1340"	"0"	"c.1340G>C"	"15"	"p.(Ser447Thr)"	"r.(?)"	""	""	""
"0000001069"	"00000050"	"50"	"436"	"0"	"436"	"0"	"c.436C>G"	"5"	"p.(Arg146Gly)"	"r.(?)"	""	""	"{ClinVar: 828118}"
"0000001070"	"00000050"	"50"	"556"	"0"	"556"	"0"	"c.556C>T"	"7"	"p.(Arg186Trp)"	"r.(?)"	""	""	"{ClinVar: 348006}"
"0000001071"	"00000050"	"90"	"595"	"0"	"595"	"0"	"c.595C>G"	"7"	"p.(Leu199Val)"	"r.(?)"	""	""	"{ClinVar: 536421}"
"0000001072"	"00000050"	"50"	"638"	"0"	"638"	"0"	"c.638G>A"	"8"	"p.(Arg213Gln)"	"r.(?)"	""	""	"{ClinVar:558682}"
"0000001073"	"00000050"	"50"	"556"	"0"	"556"	"0"	"c.556C>T"	"7"	"p.(Arg186Trp)"	"r.(?)"	""	""	"{ClinVar: 348006}"
"0000001074"	"00000050"	"00"	"578"	"0"	"578"	"0"	"c.578G>A"	"7"	"p.(Arg193Gln)"	"r.(?)"	""	""	"{ClinVar:372306}"
"0000001075"	"00000050"	"90"	"778"	"0"	"778"	"0"	"c.778C>T"	"10"	"p.(Leu260Phe)"	"r.(?)"	""	""	"{ClinVar:855048}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{variantid}}"
"0000000227"	"0000001066"
"0000000227"	"0000001067"
"0000000227"	"0000001068"
"0000000227"	"0000001069"
"0000000227"	"0000001070"
"0000000227"	"0000001071"
"0000000228"	"0000001072"
"0000000228"	"0000001073"
"0000000228"	"0000001074"
"0000000228"	"0000001075"