### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NLRC4)
# 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}}"
"NLRC4"	"NLR family CARD domain containing 4"	"2"	"p22.3"	"unknown"	"NG_041780.1"	"UD_144428607317"	""	""	""	"1"	"16412"	"58484"	"606831"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-31 09:42:28"	""	""	"00001"	"2022-01-25 09:34:50"


## Transcripts ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00000430"	"NLRC4"	"transcript variant 1"	"002"	"NM_021209.4"	""	"NP_067032.3"	""	""	""	"-275"	"3099"	"3075"	"32265743"	"32224449"	"00001"	"2021-03-31 09:42:28"	""	""
"00000431"	"NLRC4"	"transcript variant 2"	"004"	"NM_001199138.1"	""	"NP_001186067.1"	""	""	""	"-261"	"3099"	"3075"	"32264880"	"32224449"	"00001"	"2021-03-31 09:42:28"	""	""
"00000432"	"NLRC4"	"transcript variant 3"	"003"	"NM_001199139.1"	""	"NP_001186068.1"	""	""	""	"-144"	"3099"	"3075"	"32265620"	"32224449"	"00001"	"2021-03-31 09:42:28"	""	""
"00000433"	"NLRC4"	"transcript variant 4"	"001"	"NM_001302504.1"	""	"NP_001289433.1"	""	""	""	"-275"	"1104"	"1080"	"32265743"	"32224449"	"00001"	"2021-03-31 09:42:28"	""	""
"00000434"	"NLRC4"	"transcript variant X1"	"006"	"XM_017004619.1"	""	"XP_016860108.1"	""	""	""	"-261"	"2452"	"2367"	"32264880"	"32240212"	"00001"	"2021-03-31 09:42:28"	""	""
"00000435"	"NLRC4"	"transcript variant X2"	"005"	"XR_001738872.1"	""	""	""	""	""	"1"	"3073"	"3073"	"32264880"	"32224741"	"00001"	"2021-03-31 09:42:28"	""	""


## 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}}"
"00096"	"-"	"Autoinflammatory disorder"	""	""	""	""	""	"00001"	"2021-03-31 09:40:55"	""	""
"00134"	"PID"	"Primary immunodeficiency diseases"	""	""	""	""	""	"00001"	"2021-06-27 11:21:00"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"NLRC4"	"00096"


## 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}}"
"00000551"	""	""	""	"1"	""	"00004"	"{PMID:Chai Teng Chear et al.(2019):31870725}"	""	""	"Malaysia"	"Malay"	""	"F"
"00000832"	""	""	""	"1"	""	"00008"	"{PMID:Intan Juliana Abd Hamid et al. (2020):32983118}"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000551"	"00096"
"00000832"	"00134"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00096, 00134
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000189"	"00096"	"00000551"	"00004"	"She developed recurrent soft tissue and skin abscesses at 13 months old, and two years old. She also had multiple small follicular abscesses over her eyelid, extending to her right periauricular sinus with middle ear effusions. Pus swab and ear swab showed positive growth of Staphylococcus aureus. Erythematous, itchy nodules that excoriated and healed as hyperpigmented scars were also observed in the patient. Subsequently, she was admitted for acute onset right knee and popliteal swelling associated with fever."	""


## 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}}"
"0000000602"	"00000551"	"1"	"00004"	"00004"	"2021-03-31 09:45:41"	""	""	"PCR;SEQ"	"DNA"
"0000000951"	"00000832"	"1"	"00008"	"00008"	"2021-08-10 13:03:29"	""	""	"?"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000602"	"NLRC4"
"0000000951"	"NLRC4"


## 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 = 2
"{{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}}"
"0000002539"	"0"	"90"	"2"	"32249894"	"32249894"	"subst"	"0"	"00004"	"NLRC4_000001"	"g.32249894T>A"	""	"{PMID:Chai Teng Chear et al.(2019):31870725}"	""	""	""
"0000003202"	"0"	"50"	"2"	"32249894"	"32249894"	"subst"	"0"	"00008"	"NLRC4_000001"	"g.32249894T>A"	""	"{PMID:Intan Juliana Abd Hamid et al. (2020):32983118}"	"NLRC4 c.1970A>T"	""	"rs104895508"


## 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 NLRC4
## Count = 5
"{{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}}"
"0000002539"	"00000431"	"90"	"1970"	"0"	"1970"	"0"	"c.1970A>T"	"4"	"p.(Gln657Leu)"	"r.(?)"	""	"Likely Pathogenic"
"0000003202"	"00000430"	"50"	"1970"	"0"	"1970"	"0"	"c.1970A>T"	""	"p.(Gln657Leu)"	"r.(?)"	"NLRC4 c.1970A>T"	"{ClinVar:97731}"
"0000003202"	"00000431"	"50"	"1970"	"0"	"1970"	"0"	"c.1970A>T"	""	"p.(Gln657Leu)"	"r.(?)"	"NLRC4 c.1970A>T"	"{ClinVar:97731}"
"0000003202"	"00000432"	"50"	"1970"	"0"	"1970"	"0"	"c.1970A>T"	""	"p.(Gln657Leu)"	"r.(?)"	"NLRC4 c.1970A>T"	"{ClinVar:97731}"
"0000003202"	"00000433"	"50"	"262"	"2525"	"262"	"2525"	"c.262+2525A>T"	""	"p.(=)"	"r.(=)"	"NLRC4 c.1970A>T"	"{ClinVar:97731}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000000602"	"0000002539"
"0000000951"	"0000003202"