### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CYP3A43)
# 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}}"
"CYP3A43"	"cytochrome P450, family 3, subfamily A, polypeptide 43"	"7"	"q21.1"	"unknown"	"NG_007935.1"	"UD_132118342191"	""	"http://www.LOVD.nl/CYP3A43"	"Human Cytochrome P450 (CYP) Allele Nomenclature Committee <http://www.cypalleles.ki.se/>"	"1"	"17450"	"64816"	"606534"	"1"	"1"	"1"	"1"	"<a href=\'http://databases.lovd.nl/shared/variants/CYP3A43#object_id=VariantOnTranscript%2CVariantOnGenome&id=CYP3A43&order=VariantOnTranscript%2FHaplotype%2CASC&skip[chromosome]=chromosome&skip[allele_]=allele_&skip[transcriptid]=transcriptid&search_transcriptid=24037&options=true&search_VariantOnGenome/Remarks=refe&page_size=100&page=1\'><font color=\"#FF0000\"><big><b>CYP3A43 reference haplotypes</b></big></font></a>\r\nThis database has been established with the help of the <b><i>Laura Martín Montañez</i></b>, trainee of the Hogeschool Leiden."	""	"g"	"http://databases.lovd.nl/shared/refseq/CYP3A43_codingDNA.html"	"1"	""	"<a href=\'http://databases.lovd.nl/shared/variants/CYP3A43#object_id=VariantOnTranscript%2CVariantOnGenome&id=CYP3A43&order=VariantOnTranscript%2FHaplotype%2CASC&skip[chromosome]=chromosome&skip[allele_]=allele_&skip[transcriptid]=transcriptid&search_transcriptid=24037&options=true&search_VariantOnGenome/Remarks=refe&page_size=100&page=1\'><font color=\"#FF0000\"><big><b>CYP3A43 reference haplotypes</b></big></font></a>"	"-1"	""	"-1"	"00001"	"2013-04-24 00:00:00"	"00006"	"2015-06-19 11:07:31"	"00000"	"2020-06-23 10:46:30"


## 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}}"
"00024037"	"CYP3A43"	"transcript variant 2"	"002"	"NM_057095.1"	""	"NP_476436.1"	""	""	""	"-103"	"2061"	"1512"	"99425636"	"99464173"	"00006"	"2015-05-14 16:35:02"	""	""


## 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}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 11
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00038523"	""	""	""	"1"	""	"01294"	""	"reference haplotype"	"-"	"-"	""	""	"0"	""	""	""	""
"00038524"	""	""	""	"1"	""	"01294"	""	"reference haplotype"	"-"	"-"	""	""	"0"	""	""	""	""
"00038525"	""	""	""	"1"	""	"01294"	""	"reference haplotype"	"-"	"-"	""	""	"0"	""	""	""	""
"00038526"	""	""	""	"1"	""	"01294"	""	"reference haplotype"	"-"	"-"	""	""	"0"	""	""	""	""
"00038527"	""	""	""	"1"	""	"01294"	""	"reference haplotype"	"-"	"-"	""	""	"0"	""	""	""	""
"00038528"	""	""	""	"1"	""	"00006"	"{PMID:Cauffiez 2004:14695544}"	""	"-"	"-"	"France"	""	"0"	""	""	""	""
"00038529"	""	""	""	"1"	""	"00006"	"{PMID:Cauffiez 2004:14695544}"	""	"-"	"-"	"France"	""	"0"	""	""	""	""
"00038530"	""	""	""	"1"	""	"00006"	"{PMID:Cauffiez 2004:14695544}"	""	"-"	"-"	"France"	""	"0"	""	""	""	""
"00038531"	""	""	""	"1"	""	"00006"	"{PMID:Cauffiez 2004:14695544}"	""	"-"	"-"	"France"	""	"0"	""	""	""	""
"00038532"	""	""	""	"1"	""	"00006"	"{PMID:Cauffiez 2004:14695544}"	""	"-"	"-"	"France"	""	"0"	""	""	""	""
"00038533"	""	""	""	"1"	""	"00006"	"{PMID:Cauffiez 2004:14695544}"	""	"-"	"-"	"France"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}"	"{{diseaseid}}"
"00038523"	"00000"
"00038524"	"00000"
"00038525"	"00000"
"00038526"	"00000"
"00038527"	"00000"
"00038528"	"00000"
"00038529"	"00000"
"00038530"	"00000"
"00038531"	"00000"
"00038532"	"00000"
"00038533"	"00000"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 11
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000038770"	"00038523"	"1"	"01294"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ"	"DNA"	""	""
"0000038771"	"00038524"	"1"	"01294"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ"	"DNA"	""	""
"0000038772"	"00038525"	"1"	"01294"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ"	"DNA"	""	""
"0000038773"	"00038526"	"1"	"01294"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ"	"DNA"	""	""
"0000038774"	"00038527"	"1"	"01294"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ"	"DNA"	""	""
"0000038775"	"00038528"	"1"	"00006"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000038776"	"00038529"	"1"	"00006"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000038777"	"00038530"	"1"	"00006"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000038778"	"00038531"	"1"	"00006"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000038779"	"00038532"	"1"	"00006"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000038780"	"00038533"	"1"	"00006"	"00006"	"2013-05-12 12:26:46"	""	""	"SEQ;SSCA"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}"	"{{geneid}}"
"0000038770"	"CYP3A43"
"0000038771"	"CYP3A43"
"0000038772"	"CYP3A43"
"0000038773"	"CYP3A43"
"0000038774"	"CYP3A43"
"0000038775"	"CYP3A43"
"0000038776"	"CYP3A43"
"0000038777"	"CYP3A43"
"0000038778"	"CYP3A43"
"0000038779"	"CYP3A43"
"0000038780"	"CYP3A43"


## 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 = 16
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000066446"	"1"	"11"	"7"	"99425739"	"99465190"	""	"0"	"01294"	"CYP3A43_000000"	"g.99425739_99465190="	""	"Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee"	"0"	"-"	"reference haplotype CYP3A43*1 (1A)"	"Germline"	"-"	""	"0"	""	""	"g.99828116_99867567="	""	"benign"	""
"0000066447"	"1"	"30"	"7"	"99459256"	"99459256"	"subst"	"0.0736693"	"01294"	"CYP3A43_000001"	"g.99459256C>T"	""	"Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee"	""	"33518C>T"	"reference haplotype CYP3A43*1B"	"Germline"	"-"	"rs17342647"	"0"	""	""	"g.99861633C>T"	""	"likely benign"	""
"0000066448"	"1"	"99"	"7"	"99434078"	"99434078"	"del"	"0.0500783"	"01294"	"CYP3A43_000020"	"g.99434078del"	""	"Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee"	""	"8340delA (25fs)"	"reference haplotype CYP3A43*2A"	"Germline"	"-"	"rs61469810"	"0"	""	""	"g.99836455del"	""	"pathogenic"	""
"0000066449"	"1"	"99"	"7"	"99434078"	"99434078"	"del"	"0.0500783"	"01294"	"CYP3A43_000020"	"g.99434078del"	""	"Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee"	""	"8340delA (25fs)"	"reference haplotype CYP3A43*2B"	"Germline"	"-"	"rs61469810"	"0"	""	""	"g.99836455del"	""	"pathogenic"	""
"0000066450"	"1"	"50"	"7"	"99457605"	"99457605"	"subst"	"0.0642145"	"01294"	"CYP3A43_000030"	"g.99457605C>G"	""	"Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee"	""	"31866C>G (P340A)"	"reference haplotype CYP3A43*3"	"Germline"	"-"	"rs680055"	"0"	""	""	"g.99859982C>G"	""	"VUS"	""
"0000066451"	"1"	"11"	"7"	"99425739"	"99465190"	""	"0"	"00006"	"CYP3A43_000000"	"g.99425739_99465190="	"77/96 chromosomes"	"{PMID:Cauffiez 2004:14695544}"	""	""	"incl. 34/48 homozygous individuals"	"Germline"	"-"	""	"0"	""	""	"g.99828116_99867567="	""	"benign"	""
"0000066452"	"1"	"99"	"7"	"99434078"	"99434078"	"del"	"0.0500783"	"00006"	"CYP3A43_000020"	"g.99434078del"	"34/352 individuals"	"{PMID:Cauffiez 2004:14695544}"	"0"	"-"	""	"Germline"	"-"	""	"0"	""	""	"g.99836455del"	""	"pathogenic"	""
"0000066453"	"1"	"30"	"7"	"99459256"	"99459256"	"subst"	"0.0736693"	"00006"	"CYP3A43_000001"	"g.99459256C>T"	"9/48 individuals"	"{PMID:Cauffiez 2004:14695544}"	"0"	"-"	""	"Germline"	"-"	""	"0"	""	""	"g.99861633C>T"	""	"likely benign"	""
"0000066454"	"1"	"50"	"7"	"99457605"	"99457605"	"subst"	"0.0642145"	"00006"	"CYP3A43_000030"	"g.99457605C>G"	"1/48 individuals"	"{PMID:Cauffiez 2004:14695544}"	"0"	"-"	""	"Germline"	"-"	""	"0"	""	""	"g.99859982C>G"	""	"VUS"	""
"0000066455"	"1"	"99"	"7"	"99434078"	"99434078"	"del"	"0.0500783"	"00006"	"CYP3A43_000001"	"g.99434078del"	"3/48 individuals"	"{PMID:Cauffiez 2004:14695544}"	"0"	"-"	""	"Germline"	"-"	""	"0"	""	""	"g.99836455del"	""	"pathogenic"	""
"0000066456"	"3"	"99"	"7"	"99434078"	"99434078"	"del"	"0.0500783"	"00006"	"CYP3A43_000001"	"g.99434078del"	"1/352 individuals"	"{PMID:Cauffiez 2004:14695544}"	""	"-"	""	"Germline"	"-"	""	"0"	""	""	"g.99836455del"	""	"pathogenic"	""
"0000066457"	"1"	"50"	"7"	"99457605"	"99457605"	"subst"	"0.0642145"	"01294"	"CYP3A43_000030"	"g.99457605C>G"	""	"Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee"	""	"31867C>G (P340A)"	"reference haplotype CYP3A43*2B; change on protein after frameshift"	"Germline"	"-"	"rs680055"	"0"	""	""	"g.99859982C>G"	""	"VUS"	""
"0000066458"	"1"	"50"	"7"	"99457605"	"99457605"	"subst"	"0.0642145"	"00006"	"CYP3A43_000030"	"g.99457605C>G"	"1/352 individuals"	"{PMID:Cauffiez 2004:14695544}"	""	"1017C>G"	"change on protein after frameshift"	"Germline"	"-"	""	"0"	""	""	"g.99859982C>G"	""	"VUS"	""
"0000066459"	"0"	"90"	"7"	"99434078"	"99434078"	"del"	"0.0500783"	"00006"	"CYP3A43_000001"	"g.99434078del"	"1/48 individuals"	"{PMID:Cauffiez 2004:14695544}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.99836455del"	""	"pathogenic"	""
"0000066460"	"0"	"30"	"7"	"99459256"	"99459256"	"subst"	"0.0736693"	"00006"	"CYP3A43_000001"	"g.99459256C>T"	"1/48 individuals"	"{PMID:Cauffiez 2004:14695544}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.99861633C>T"	""	"likely benign"	""
"0000066461"	"0"	"50"	"7"	"99457605"	"99457605"	"subst"	"0.0642145"	"00006"	"CYP3A43_000030"	"g.99457605C>G"	"3/48 individuals"	"{PMID:Cauffiez 2004:14695544}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.99859982C>G"	""	"VUS"	""


## 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 CYP3A43
## Count = 16
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Haplotype}}"
"0000066446"	"00024037"	"11"	"0"	"0"	"0"	"0"	"c.="	"r.="	"p.="	"1_13"	"CYP3A43*1"
"0000066447"	"00024037"	"30"	"1047"	"0"	"1047"	"0"	"c.1047C>T"	"r.(?)"	"p.(Ala239=)"	"11"	"CYP3A43*1B"
"0000066448"	"00024037"	"99"	"74"	"0"	"74"	"0"	"c.74del"	"r.(?)"	"p.(Tyr25Leufs*65)"	"2"	"CYP3A43*2A"
"0000066449"	"00024037"	"99"	"74"	"0"	"74"	"0"	"c.74del"	"r.(?)"	"p.(Tyr25Leufs*65)"	"2"	"CYP3A43*2B"
"0000066450"	"00024037"	"50"	"1018"	"0"	"1018"	"0"	"c.1018C>G"	"r.(?)"	"p.(Pro340Ala)"	"10"	"CYP3A43*3"
"0000066451"	"00024037"	"11"	"0"	"0"	"0"	"0"	"c.="	"r.(?)"	"p.="	"1_13"	"CYP3A43*1A"
"0000066452"	"00024037"	"99"	"74"	"0"	"74"	"0"	"c.74del"	"r.(?)"	"p.(Tyr25Leufs*65)"	"2"	""
"0000066453"	"00024037"	"30"	"1047"	"0"	"1047"	"0"	"c.1047C>T"	"r.(?)"	"p.(Ala239=)"	"11"	""
"0000066454"	"00024037"	"50"	"1018"	"0"	"1018"	"0"	"c.1018C>G"	"r.(?)"	"p.(Pro340Ala)"	"10"	""
"0000066455"	"00024037"	"99"	"74"	"0"	"74"	"0"	"c.74del"	"r.(?)"	"p.(Tyr25Leufs*65)"	"2"	""
"0000066456"	"00024037"	"99"	"74"	"0"	"74"	"0"	"c.74del"	"r.(?)"	"p.(Tyr25Leufs*65)"	"2"	"CYP3A43*2A;2B"
"0000066457"	"00024037"	"50"	"1018"	"0"	"1018"	"0"	"c.1018C>G"	"r.(?)"	"p.(Pro340Ala)"	"10"	"CYP3A43*2B"
"0000066458"	"00024037"	"50"	"1018"	"0"	"1018"	"0"	"c.1018C>G"	"r.(?)"	"p.(Pro340Ala)"	"2"	"CYP3A43*2B"
"0000066459"	"00024037"	"90"	"74"	"0"	"74"	"0"	"c.74del"	"r.(?)"	"p.(Tyr25Leufs*65)"	"2"	""
"0000066460"	"00024037"	"30"	"1047"	"0"	"1047"	"0"	"c.1047C>T"	"r.(=)"	"p.(Ala239=)"	"11"	""
"0000066461"	"00024037"	"50"	"1018"	"0"	"1018"	"0"	"c.1018C>G"	"r.(?)"	"p.(Pro340Ala)"	"10"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 16
"{{screeningid}}"	"{{variantid}}"
"0000038770"	"0000066446"
"0000038771"	"0000066447"
"0000038772"	"0000066448"
"0000038773"	"0000066449"
"0000038773"	"0000066457"
"0000038774"	"0000066450"
"0000038775"	"0000066451"
"0000038776"	"0000066452"
"0000038777"	"0000066453"
"0000038778"	"0000066454"
"0000038778"	"0000066459"
"0000038778"	"0000066460"
"0000038779"	"0000066455"
"0000038779"	"0000066461"
"0000038780"	"0000066456"
"0000038780"	"0000066458"