### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NOS3)
# 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}}"
"NOS3"	"nitric oxide synthase 3"	"7"	"q36.1"	"unknown"	"NG_011992.1"	"UD_144529721574"	""	""	""	"1"	"7876"	"4846"	"163729"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-01-06 10:54:41"	""	""	"00005"	"2021-09-01 11:51:47"


## 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}}"
"00000095"	"NOS3"	"transcript variant 1"	"001"	"NM_000603.4"	""	"NP_000594.2"	""	""	""	"-296"	"4042"	"3612"	"150991056"	"151014599"	"00001"	"2021-01-06 10:54:41"	""	""


## 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}}"
"00010"	"MTHFR"	"Ishaemic strokes"	""	"607093"	""	""	""	"00001"	"2017-11-21 08:39:26"	""	""
"00054"	"EH"	"Essential Hypertension"	""	""	""	""	""	"00001"	"2021-01-05 14:55:18"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"NOS3"	"00054"


## 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}}"
"00000325"	""	""	""	"1"	""	"00002"	"{PMID:Dzuzaini M Ghazali et al. (2008):17977523}"	""	""	"Malaysia"	"Malay"	""	""
"00000460"	""	""	""	"1"	""	"00004"	"{PMID:Loo Keat Wei et al.(2015):26187788}"	""	""	"Malaysia"	"Malay"	""	""
"00000461"	""	""	""	"1"	""	"00004"	"{PMID:Keat Wei Loo et al.(2012):22594584}"	""	""	"Malaysia"	"Malay"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000325"	"00054"
"00000460"	"00010"
"00000461"	"00010"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00010, 00054
## Count = 0


## 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}}"
"0000000340"	"00000325"	"1"	"00002"	"00002"	"2021-01-06 11:44:09"	""	""	"PCR;SEQ"	"DNA"
"0000000502"	"00000460"	"1"	"00004"	"00004"	"2021-02-25 12:12:43"	""	""	"PCRm"	"DNA"
"0000000504"	"00000461"	"1"	"00004"	"00004"	"2021-02-25 14:08:22"	""	""	"PCRm"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000340"	"NOS3"
"0000000502"	"NOS3"
"0000000504"	"NOS3"


## 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}}"
"0000001538"	"0"	"10"	"7"	"150999023"	"150999023"	"subst"	"0"	"00002"	"NOS3_000001"	"g.150999023T>G"	"54/200"	"{PMID:Dzuzaini M Ghazali et al. (2008):17977523}, {dbSNP:rs1799983}, {OMIM:163729:0001}, {ClinVar:14015}"	"G894T"	""	"rs1799983"
"0000001539"	"3"	"10"	"7"	"150999023"	"150999023"	"subst"	"0"	"00002"	"NOS3_000001"	"g.150999023T>G"	"2/200"	"{PMID:Dzuzaini M Ghazali et al. (2008):17977523}, {dbSNP:rs1799983}, {OMIM:163729:0001}, {ClinVar:14015}"	"G894T"	""	"rs1799983"
"0000002196"	"0"	"90"	"7"	"150992991"	"150992991"	"subst"	"0"	"00004"	"NOS3_000002"	"g.150992991C>T"	""	"{PMID:Loo Keat Wei et al.(2015):26187788}"	""	""	"rs2070744"
"0000002197"	"0"	"90"	"7"	"150999023"	"150999023"	"subst"	"0"	"00004"	"NOS3_000001"	"g.150999023T>G"	""	"{PMID:Loo Keat Wei et al.(2015):26187788}"	""	""	"rs1799983"
"0000002202"	"0"	"90"	"7"	"150999023"	"150999023"	"subst"	"0"	"00004"	"NOS3_000001"	"g.150999023T>G"	""	"{PMID:Keat Wei Loo et al.(2012):22594584}"	""	""	"rs1799983"
"0000002203"	"0"	"90"	"7"	"150992991"	"150992991"	"subst"	"0"	"00004"	"NOS3_000002"	"g.150992991C>T"	""	"{PMID:Keat Wei Loo et al.(2012):22594584}"	""	""	"rs2070744"


## 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 NOS3
## 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/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000001538"	"00000095"	"10"	"894"	"0"	"894"	"0"	"c.894T>G"	""	"p.(Asp298Glu)"	"r.(?)"	""	""	"{ClinVar:14015}"
"0000001539"	"00000095"	"10"	"894"	"0"	"894"	"0"	"c.894T>G"	""	"p.(Asp298Glu)"	"r.(?)"	""	""	"{ClinVar:14015}"
"0000002196"	"00000095"	"90"	"-51"	"-762"	"-51"	"-762"	"c.-51-762C>T"	""	"p.(=)"	"r.(=)"	""	""	""
"0000002197"	"00000095"	"90"	"894"	"0"	"894"	"0"	"c.894T>G"	""	"p.(Asp298Glu)"	"r.(?)"	""	""	"pathogenic"
"0000002202"	"00000095"	"90"	"894"	"0"	"894"	"0"	"c.894T>G"	""	"p.(Asp298Glu)"	"r.(?)"	""	""	"pathogenic"
"0000002203"	"00000095"	"90"	"-51"	"-762"	"-51"	"-762"	"c.-51-762C>T"	""	"p.(=)"	"r.(=)"	""	""	"-"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000340"	"0000001538"
"0000000340"	"0000001539"
"0000000502"	"0000002196"
"0000000502"	"0000002197"
"0000000504"	"0000002202"
"0000000504"	"0000002203"