### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CYP1A1)
# 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}}"
"CYP1A1" "cytochrome P450, family 1, subfamily A, polypeptide 1" "15" "q24.1" "unknown" "NG_008431.2" "UD_132119046733" "" "https://www.LOVD.nl/CYP1A1" "Human Cytochrome P450 (CYP) Allele Nomenclature Committee \r\nPharmGKB CYP1A1 " "1" "2595" "1543" "108330" "1" "1" "1" "1" "CYP1A1 reference haplotypes\r\nFunctional analysis variants\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CYP1A1_codingDNA.html" "1" "" "CYP1A1 reference haplotypes. Functional analysis variants" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00008" "2017-01-30 15:47:20" "00000" "2024-08-28 13:16:32"
## 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}}"
"00005990" "CYP1A1" "cytochrome P450, family 1, subfamily A, polypeptide 1" "001" "NM_000499.3" "" "NP_000490.1" "" "" "" "-122" "2486" "1539" "75017877" "75011883" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32"
"06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 36
"{{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}}"
"00100034" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100035" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100036" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100037" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100038" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100039" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100040" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100041" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100042" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100043" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100044" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100045" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100046" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100047" "" "" "" "1" "" "01294" "" "referenceHaplotype" "" "" "" "" "0" "" "" "- (not applicable)" ""
"00100048" "" "" "" "1" "" "00008" "Bale 1987" "" "" "" "" "" "0" "" "" "" ""
"00100049" "" "" "" "1" "" "00008" "{PMID:Hayashi 1991:92121159}" "" "" "" "" "" "0" "" "" "" ""
"00100050" "" "" "" "1" "" "00008" "{PMID:Hayashi 1991 :92121159}" "" "" "" "" "" "0" "" "" "" ""
"00100051" "" "" "" "1" "" "00008" "{PMID:Crofts 1993:8104732}" "" "" "" "" "" "0" "" "" "" ""
"00100052" "" "" "" "1" "" "00008" "{PMID:Cascorbi 1996:8895751}" "" "" "" "" "" "0" "" "" "" ""
"00100053" "" "" "" "1" "" "00008" "{PMID:Chevalier 2001:11295847}" "" "" "" "" "" "0" "" "" "" ""
"00100054" "" "" "" "1" "" "00008" "{PMID:Chevalier 2001:11295847}" "" "" "" "" "" "0" "" "" "" ""
"00100055" "" "" "" "1" "" "00008" "{PMID:Saito 2003:15618738}" "" "" "" "" "" "0" "" "" "" ""
"00100056" "" "" "" "1" "" "00008" "{PMID:Saito 2003:15618738}" "" "" "" "" "" "0" "" "" "" ""
"00100057" "" "" "" "1" "" "00008" "{PMID:Saito 2003:15618738}" "" "" "" "" "" "0" "" "" "" ""
"00100058" "" "" "" "1" "" "00008" "{PMID:Saito 2003:15618738}" "" "" "" "" "" "0" "" "" "" ""
"00100059" "" "" "" "1" "" "00008" "{PMID:Saito 2003:15618738}" "" "" "" "" "" "0" "" "" "" ""
"00100060" "" "" "" "1" "" "00008" "{PMID:Park 2004:15127181}" "" "" "" "" "" "0" "" "" "" ""
"00100061" "" "" "" "1" "" "00008" "{PMID:Park 2004:15127181}" "" "" "" "" "" "0" "" "" "" ""
"00100063" "" "" "" "1" "" "00008" "{PMID:Solus 2004:15469410}" "" "" "" "" "" "0" "" "" "" ""
"00100064" "" "" "" "1" "" "00008" "{PMID:Solus 2004:15469410}" "" "" "" "" "" "0" "" "" "" ""
"00100065" "" "" "" "1" "" "00008" "{PMID:Solus 2004:15469410}" "" "" "" "" "" "0" "" "" "" ""
"00100066" "" "" "" "1" "" "00008" "{PMID:Jorge-Nebert 2010:19802894}" "" "" "" "" "" "0" "" "" "" ""
"00100067" "" "" "" "1" "" "00008" "{PMID:Jorge-Nebert 2010:19802894}" "" "" "" "" "" "0" "" "" "" ""
"00180518" "" "" "" "35" "" "02555" "{PMID:Liu 2004:15088300}" "Taiwanese cohort" "F;M" "" "Taiwan" "" "0" "{DB:Uveo2408?snp=rs1799814&t=1535288983}" "" "Taiwanese" ""
"00180519" "" "" "" "37" "" "02555" "{PMID:Liu 2004:15088300}" "Taiwanese cohort" "F;M" "" "Taiwan" "" "0" "{DB:Uveo2407?snp=rs1048943&t=1535288854}" "" "Taiwanese" ""
"00397336" "" "" "" "1" "" "00006" "{PMID:Gu 2018:29901142}" "" "" "" "China" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 36
"{{individualid}}" "{{diseaseid}}"
"00100034" "00198"
"00100035" "00198"
"00100036" "00198"
"00100037" "00198"
"00100038" "00198"
"00100039" "00198"
"00100040" "00198"
"00100041" "00198"
"00100042" "00198"
"00100043" "00198"
"00100044" "00198"
"00100045" "00198"
"00100046" "00198"
"00100047" "00198"
"00100048" "00198"
"00100049" "00198"
"00100050" "00198"
"00100051" "00198"
"00100052" "00198"
"00100053" "00198"
"00100054" "00198"
"00100055" "00198"
"00100056" "00198"
"00100057" "00198"
"00100058" "00198"
"00100059" "00198"
"00100060" "00198"
"00100061" "00198"
"00100063" "00198"
"00100064" "00198"
"00100065" "00198"
"00100066" "00198"
"00100067" "00198"
"00180518" "05467"
"00180519" "05467"
"00397336" "06886"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05467, 06886
## Count = 2
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000142913" "05467" "00180518" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142914" "05467" "00180519" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 36
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000100437" "00100034" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100438" "00100035" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100439" "00100036" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100440" "00100037" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100441" "00100038" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100442" "00100039" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100443" "00100040" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100444" "00100041" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100445" "00100042" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100446" "00100043" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100447" "00100044" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100448" "00100045" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100449" "00100046" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100450" "00100047" "1" "01294" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100451" "00100048" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100452" "00100049" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100453" "00100050" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100454" "00100051" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100455" "00100052" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100456" "00100053" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100457" "00100054" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100458" "00100055" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100459" "00100056" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100460" "00100057" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100461" "00100058" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100462" "00100059" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100463" "00100060" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100464" "00100061" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100466" "00100063" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100467" "00100064" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100468" "00100065" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100469" "00100066" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000100470" "00100067" "1" "00008" "00008" "2017-01-30 15:15:56" "" "" "SEQ" "DNA" "" ""
"0000181455" "00180518" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181456" "00180519" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000398576" "00397336" "1" "00006" "00006" "2021-12-20 15:11:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 35
"{{screeningid}}" "{{geneid}}"
"0000100437" "CYP1A1"
"0000100438" "CYP1A1"
"0000100439" "CYP1A1"
"0000100440" "CYP1A1"
"0000100441" "CYP1A1"
"0000100442" "CYP1A1"
"0000100443" "CYP1A1"
"0000100444" "CYP1A1"
"0000100445" "CYP1A1"
"0000100446" "CYP1A1"
"0000100447" "CYP1A1"
"0000100448" "CYP1A1"
"0000100449" "CYP1A1"
"0000100450" "CYP1A1"
"0000100451" "CYP1A1"
"0000100452" "CYP1A1"
"0000100453" "CYP1A1"
"0000100454" "CYP1A1"
"0000100455" "CYP1A1"
"0000100456" "CYP1A1"
"0000100457" "CYP1A1"
"0000100458" "CYP1A1"
"0000100459" "CYP1A1"
"0000100460" "CYP1A1"
"0000100461" "CYP1A1"
"0000100462" "CYP1A1"
"0000100463" "CYP1A1"
"0000100464" "CYP1A1"
"0000100466" "CYP1A1"
"0000100467" "CYP1A1"
"0000100468" "CYP1A1"
"0000100469" "CYP1A1"
"0000100470" "CYP1A1"
"0000181455" "CYP1A1"
"0000181456" "CYP1A1"
## 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 = 42
"{{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}}"
"0000162728" "1" "50" "15" "75011641" "75011641" "subst" "0" "01294" "CYP1A1_000023" "g.75011641A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "I462V / 2454A>G; 3798T>C (MspI)" "reference haplotype CYP1A1*2A" "Germline" "" "" "0" "" "" "g.74719300A>G" "" "VUS" ""
"0000162729" "1" "50" "15" "75011641" "75011641" "subst" "0" "01294" "CYP1A1_000023" "g.75011641A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "I462V / 2454A>G; 3798T>C (MspI)" "reference haplotype CYP1A1*2B" "Germline" "" "rs1048943" "0" "" "" "g.74719300A>G" "" "VUS" ""
"0000162730" "1" "50" "15" "75012985" "75012985" "subst" "0.10779" "01294" "CYP1A1_000020" "g.75012985T>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "I462V / 2454A>G" "reference haplotype CYP1A1*2B" "Germline" "" "" "0" "" "" "g.74720644T>C" "" "VUS" ""
"0000162731" "1" "50" "15" "75012985" "75012985" "subst" "0.10779" "01294" "CYP1A1_000020" "g.75012985T>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "3204T>C" "reference haplotype CYP1A1*2C" "Germline" "" "rs1048943" "0" "" "" "g.74720644T>C" "" "VUS" ""
"0000162732" "1" "50" "15" "75012235" "75012235" "subst" "0" "01294" "CYP1A1_000013" "g.75012235A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "T461N / 2452C>A" "reference haplotype CYP1A1*3\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.74719894A>G" "" "VUS" ""
"0000162733" "1" "50" "15" "75012987" "75012987" "subst" "0.0307827" "01294" "CYP1A1_000021" "g.75012987G>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "R464S / 2460C>A" "reference haplotype CYP1A1*4" "Germline" "" "rs1799814" "0" "" "" "g.74720646G>T" "" "VUS" ""
"0000162734" "1" "50" "15" "75012979" "75012979" "subst" "0.00431294" "01294" "CYP1A1_000018" "g.75012979G>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "M331I / 1635G>T" "reference haplotype CYP1A1*5" "Germline" "" "rs41279188" "0" "" "" "g.74720638G>T" "" "VUS" ""
"0000162735" "1" "50" "15" "75013804" "75013804" "subst" "0" "01294" "CYP1A1_000002" "g.75013804C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "426Frameshift / 2345_2346insT" "reference haplotype CYP1A1*6" "Germline" "" "" "0" "" "" "g.74721463C>A" "" "VUS" ""
"0000162736" "1" "50" "15" "75013094" "75013094" "dup" "0" "01294" "CYP1A1_000001" "g.75013094dup" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "I448N / 2413T>A" "reference haplotype CYP1A1*7" "Germline" "" "rs72547510" "0" "" "" "g.74720753dup" "" "VUS" ""
"0000162737" "1" "50" "15" "75013026" "75013026" "subst" "4.06081E-6" "01294" "CYP1A1_000022" "g.75013026A>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "R464C / 2460C>T" "reference haplotype CYP1A1*8" "Germline" "" "rs72547509" "0" "" "" "g.74720685A>T" "" "VUS" ""
"0000162738" "1" "50" "15" "75012979" "75012979" "subst" "5.6856E-5" "01294" "CYP1A1_000019" "g.75012979G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "R477W / 2499C>T" "reference haplotype CYP1A1*9" "Germline" "" "" "0" "" "" "g.74720638G>A" "" "VUS" ""
"0000162739" "1" "50" "15" "75012940" "75012940" "subst" "0.000190978" "01294" "CYP1A1_000017" "g.75012940G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "P492R / 2545C>G" "reference haplotype CYP1A1*10" "Germline" "" "rs56240201" "0" "" "" "g.74720599G>A" "" "VUS" ""
"0000162740" "1" "50" "15" "75012894" "75012894" "subst" "0.000399631" "01294" "CYP1A1_000015" "g.75012894G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "A62P / 184G>C" "reference haplotype CYP1A1*11" "Germline" "" "rs28399430" "0" "" "" "g.74720553G>C" "" "VUS" ""
"0000162741" "1" "50" "15" "75015255" "75015255" "subst" "0.000316888" "01294" "CYP1A1_000008" "g.75015255C>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "G45D / 134G>A" "reference haplotype CYP1A1*12" "Germline" "" "rs143070677" "0" "" "" "g.74722914C>G" "" "VUS" ""
"0000162742" "1" "50" "15" "75015305" "75015305" "subst" "0.0104703" "01294" "CYP1A1_000009" "g.75015305C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "3798T>C (MspI)" "reference haplotype CYP1A1*13" "Germline" "" "rs4646422" "0" "" "" "g.74722964C>T" "" "VUS" ""
"0000162743" "1" "50" "15" "75011641" "75011641" "subst" "0" "00008" "CYP1A1_000023" "g.75011641A>G" "" "Bale 1987" "" "I462V / 2454A>G; 3798T>C (MspI)" "" "Germline" "" "" "0" "" "" "g.74719300A>G" "" "VUS" ""
"0000162744" "1" "50" "15" "75011641" "75011641" "subst" "0" "00008" "CYP1A1_000023" "g.75011641A>G" "" "Hayashi 1991" "" "I462V / 2454A>G; 3798T>C (MspI)" "" "Germline" "" "rs1048943" "0" "" "" "g.74719300A>G" "" "VUS" ""
"0000162745" "1" "50" "15" "75012985" "75012985" "subst" "0.10779" "00008" "CYP1A1_000020" "g.75012985T>C" "" "Hayashi 1991" "" "I462V / 2454A>G" "" "Germline" "" "" "0" "" "" "g.74720644T>C" "" "VUS" ""
"0000162746" "1" "50" "15" "75012985" "75012985" "subst" "0.10779" "00008" "CYP1A1_000020" "g.75012985T>C" "" "Hayashi 1991" "" "3204T>C" "" "Germline" "" "rs1048943" "0" "" "" "g.74720644T>C" "" "VUS" ""
"0000162747" "1" "50" "15" "75012235" "75012235" "subst" "0" "00008" "CYP1A1_000013" "g.75012235A>G" "" "{PMID:Crofts 1993:8104732}" "" "T461N / 2452C>A" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.74719894A>G" "" "VUS" ""
"0000162748" "1" "50" "15" "75012987" "75012987" "subst" "0.0307827" "00008" "CYP1A1_000021" "g.75012987G>T" "" "{PMID:Cascorbi 1996:8895751}" "" "R464S / 2460C>A" "" "Germline" "" "rs1799814" "0" "" "" "g.74720646G>T" "" "VUS" ""
"0000162749" "1" "50" "15" "75012979" "75012979" "subst" "0.00431294" "00008" "CYP1A1_000018" "g.75012979G>T" "" "{PMID:Chevalier 2001:11295847}" "" "M331I / 1635G>T" "" "Germline" "" "rs41279188" "0" "" "" "g.74720638G>T" "" "VUS" ""
"0000162750" "1" "50" "15" "75013804" "75013804" "subst" "0" "00008" "CYP1A1_000002" "g.75013804C>A" "" "{PMID:Chevalier 2001:11295847}" "" "426Frameshift / 2345_2346insT" "" "Germline" "" "" "0" "" "" "g.74721463C>A" "" "VUS" ""
"0000162751" "1" "50" "15" "75013094" "75013094" "dup" "0" "00008" "CYP1A1_000001" "g.75013094dup" "" "{PMID:Saito 2003:15618738}" "" "I448N / 2413T>A" "" "Germline" "" "rs72547510" "0" "" "" "g.74720753dup" "" "VUS" ""
"0000162752" "1" "50" "15" "75013026" "75013026" "subst" "4.06081E-6" "00008" "CYP1A1_000022" "g.75013026A>T" "" "{PMID:Saito 2003:15618738}" "" "R464C / 2460C>T" "" "Germline" "" "rs72547509" "0" "" "" "g.74720685A>T" "" "VUS" ""
"0000162753" "1" "50" "15" "75012979" "75012979" "subst" "5.6856E-5" "00008" "CYP1A1_000019" "g.75012979G>A" "" "{PMID:Saito 2003:15618738}" "" "R477W / 2499C>T" "" "Germline" "" "" "0" "" "" "g.74720638G>A" "" "VUS" ""
"0000162754" "1" "50" "15" "75012940" "75012940" "subst" "0.000190978" "00008" "CYP1A1_000017" "g.75012940G>A" "" "{PMID:Saito 2003:15618738}" "" "P492R / 2545C>G" "" "Germline" "" "rs56240201" "0" "" "" "g.74720599G>A" "" "VUS" ""
"0000162755" "1" "50" "15" "75012894" "75012894" "subst" "0.000399631" "00008" "CYP1A1_000015" "g.75012894G>C" "" "{PMID:Saito 2003:15618738}" "" "A62P / 184G>C" "" "Germline" "" "rs28399430" "0" "" "" "g.74720553G>C" "" "VUS" ""
"0000162756" "1" "50" "15" "75015255" "75015255" "subst" "0.000316888" "00008" "CYP1A1_000008" "g.75015255C>G" "" "{PMID:Park 2004:15127181}" "" "G45D / 134G>A" "" "Germline" "" "rs143070677" "0" "" "" "g.74722914C>G" "" "VUS" ""
"0000162757" "1" "50" "15" "75015305" "75015305" "subst" "0.0104703" "00008" "CYP1A1_000009" "g.75015305C>T" "" "{PMID:Park 2004:15127181}" "" "-33T>C" "" "Germline" "" "rs4646422" "0" "" "" "g.74722964C>T" "" "VUS" ""
"0000162759" "1" "50" "15" "75014926" "75014926" "subst" "0.000698619" "00008" "CYP1A1_000004" "g.75014926T>G" "" "{PMID:Solus 2004:15469410}" "" "2216C>T" "" "Germline" "" "" "0" "" "" "g.74722585T>G" "" "VUS" ""
"0000162765" "1" "50" "15" "75015206" "75015206" "subst" "0.00653361" "00008" "CYP1A1_000007" "g.75015206A>G" "" "{PMID:Solus 2004:15469410}" "" "T173R / 18C>G" "" "Germline" "" "rs17861094" "0" "" "" "g.74722865A>G" "" "VUS" ""
"0000162766" "1" "50" "15" "75014921" "75014921" "subst" "0.000698653" "00008" "CYP1A1_000003" "g.75014921G>C" "" "{PMID:Solus 2004:15469410}" "" "V482M / 2515G>A" "" "Germline" "" "rs28399427" "0" "" "" "g.74722580G>C" "" "VUS" ""
"0000162767" "1" "50" "15" "75012925" "75012925" "subst" "0.00109509" "00008" "CYP1A1_000016" "g.75012925C>T" "" "{PMID:Solus 2004:15469410}" "" "D108Y / 322G>T" "" "Germline" "" "rs28399429" "0" "" "" "g.74720584C>T" "" "VUS" ""
"0000162768" "1" "50" "15" "75015117" "75015117" "subst" "4.06898E-6" "00008" "CYP1A1_000005" "g.75015117C>A" "" "{PMID:Jorge-Nebert 2010:19802894}" "" "G88S / 262G>A" "" "Germline" "" "rs78901429" "0" "" "" "g.74722776C>A" "" "VUS" ""
"0000162769" "1" "50" "15" "75015177" "75015177" "subst" "7.31291E-5" "00008" "CYP1A1_000006" "g.75015177C>T" "" "{PMID:Jorge-Nebert 2010:19802894}" "" "262G>A" "" "Germline" "" "rs77425771" "0" "" "" "g.74722836C>T" "" "VUS" ""
"0000324207" "0" "50" "15" "75014027" "75014027" "subst" "0.00145028" "01804" "CYP1A1_000024" "g.75014027A>G" "" "" "" "CYP1A1(NM_000499.3):c.857T>C (p.(Ile286Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74721686A>G" "" "VUS" ""
"0000324208" "0" "50" "15" "75014727" "75014727" "subst" "0.00137249" "01804" "CYP1A1_000025" "g.75014727G>A" "" "" "" "CYP1A1(NM_000499.3):c.712C>T (p.(Pro238Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74722386G>A" "" "VUS" ""
"0000405151" "0" "50" "15" "75012987" "75012987" "subst" "1.62442E-5" "02555" "CYP1A1_000026" "g.75012987G>A" "35/102 cases" "{PMID:Liu 2004:15088300}" "" "" "{DB:Uveo2408?snp=rs1799814&t=1535288983}" "Germline" "" "rs1799814" "0" "" "" "g.74720646G>A" "" "VUS" ""
"0000405152" "0" "50" "15" "75012985" "75012985" "subst" "0.10779" "02555" "CYP1A1_000020" "g.75012985T>C" "37/102 cases" "{PMID:Liu 2004:15088300}" "" "" "{DB:Uveo2407?snp=rs1048943&t=1535288854}" "Germline" "" "rs1048943" "0" "" "" "g.74720644T>C" "" "VUS" ""
"0000830790" "0" "50" "15" "75015123" "75015123" "subst" "2.03455E-5" "00006" "CYP1A1_000027" "g.75015123G>A" "" "{PMID:Gu 2018:29901142}" "" "" "" "Germline" "" "" "0" "" "" "g.74722782G>A" "" "VUS" ""
"0001001660" "0" "50" "15" "75014763" "75014763" "subst" "0" "01804" "CYP1A1_000028" "g.75014763C>T" "" "" "" "CYP1A1(NM_000499.3):c.676G>A (p.(Glu226Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 CYP1A1
## Count = 42
"{{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}}"
"0000162728" "00005990" "50" "2728" "0" "2728" "0" "c.*1189T>C" "r.(?)" "p.(=)" "" "CYP1A1*2A"
"0000162729" "00005990" "50" "2728" "0" "2728" "0" "c.*1189T>C" "r.(?)" "p.(=)" "" "CYP1A1*2B"
"0000162730" "00005990" "50" "1384" "0" "1384" "0" "c.1384A>G" "r.(?)" "p.(Ile462Val)" "" "CYP1A1*2B"
"0000162731" "00005990" "50" "1384" "0" "1384" "0" "c.1384A>G" "r.(?)" "p.(Ile462Val)" "" "CYP1A1*2C"
"0000162732" "00005990" "50" "2134" "0" "2134" "0" "c.2134T>C" "r.(?)" "p.(=)" "" "CYP1A1*3"
"0000162733" "00005990" "50" "1382" "0" "1382" "0" "c.1382C>A" "r.(?)" "p.(Thr461Asn)" "" "CYP1A1*4"
"0000162734" "00005990" "50" "1390" "0" "1390" "0" "c.1390C>A" "r.(?)" "p.(Arg464Ser)" "" "CYP1A1*5"
"0000162735" "00005990" "50" "993" "0" "993" "0" "c.993G>T" "r.(?)" "p.(Met331Ile)" "" "CYP1A1*6"
"0000162736" "00005990" "50" "1275" "0" "1275" "0" "c.1275dup" "r.(?)" "p.(Glu426*)" "" "CYP1A1*7"
"0000162737" "00005990" "50" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Ile448Asn)" "" "CYP1A1*8"
"0000162738" "00005990" "50" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464Cys)" "" "CYP1A1*9"
"0000162739" "00005990" "50" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Trp)" "" "CYP1A1*10"
"0000162740" "00005990" "50" "1475" "0" "1475" "0" "c.1475C>G" "r.(?)" "p.(Pro492Arg)" "" "CYP1A1*11"
"0000162741" "00005990" "50" "184" "0" "184" "0" "c.184G>C" "r.(?)" "p.(Ala62Pro)" "" "CYP1A1*12"
"0000162742" "00005990" "50" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Gly45Asp)" "" "CYP1A1*13"
"0000162743" "00005990" "50" "2728" "0" "2728" "0" "c.*1189T>C" "r.(?)" "p.(=)" "" ""
"0000162744" "00005990" "50" "2728" "0" "2728" "0" "c.*1189T>C" "r.(?)" "p.(=)" "" ""
"0000162745" "00005990" "50" "1384" "0" "1384" "0" "c.1384A>G" "r.(?)" "p.(Ile462Val)" "" ""
"0000162746" "00005990" "50" "1384" "0" "1384" "0" "c.1384A>G" "r.(?)" "p.(Ile462Val)" "" ""
"0000162747" "00005990" "50" "2134" "0" "2134" "0" "c.2134T>C" "r.(?)" "p.(=)" "" ""
"0000162748" "00005990" "50" "1382" "0" "1382" "0" "c.1382C>A" "r.(?)" "p.(Thr461Asn)" "" ""
"0000162749" "00005990" "50" "1390" "0" "1390" "0" "c.1390C>A" "r.(?)" "p.(Arg464Ser)" "" ""
"0000162750" "00005990" "50" "993" "0" "993" "0" "c.993G>T" "r.(?)" "p.(Met331Ile)" "" ""
"0000162751" "00005990" "50" "1275" "0" "1275" "0" "c.1275dup" "r.(?)" "p.(Glu426*)" "" ""
"0000162752" "00005990" "50" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Ile448Asn)" "" ""
"0000162753" "00005990" "50" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464Cys)" "" ""
"0000162754" "00005990" "50" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Trp)" "" ""
"0000162755" "00005990" "50" "1475" "0" "1475" "0" "c.1475C>G" "r.(?)" "p.(Pro492Arg)" "" ""
"0000162756" "00005990" "50" "184" "0" "184" "0" "c.184G>C" "r.(?)" "p.(Ala62Pro)" "" ""
"0000162757" "00005990" "50" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Gly45Asp)" "" ""
"0000162759" "00005990" "50" "513" "0" "513" "0" "c.513A>C" "r.(?)" "p.(=)" "" ""
"0000162765" "00005990" "50" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Ile78Thr)" "" ""
"0000162766" "00005990" "50" "518" "0" "518" "0" "c.518C>G" "r.(?)" "p.(Thr173Arg)" "" ""
"0000162767" "00005990" "50" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Val482Met)" "" ""
"0000162768" "00005990" "50" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Asp108Tyr)" "" ""
"0000162769" "00005990" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Ser)" "" ""
"0000324207" "00005990" "50" "857" "0" "857" "0" "c.857T>C" "r.(?)" "p.(Ile286Thr)" "" ""
"0000324208" "00005990" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Pro238Ser)" "" ""
"0000405151" "00005990" "00" "1382" "0" "1382" "0" "c.1382C>T" "r.(?)" "p.(Thr461Ile)" "" ""
"0000405152" "00005990" "00" "1384" "0" "1384" "0" "c.1384A>G" "r.(?)" "p.(Ile462Val)" "" ""
"0000830790" "00005990" "50" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Trp)" "2" ""
"0001001660" "00005990" "50" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Glu226Lys)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 38
"{{screeningid}}" "{{variantid}}"
"0000100437" "0000162728"
"0000100438" "0000162729"
"0000100438" "0000162730"
"0000100439" "0000162731"
"0000100440" "0000162732"
"0000100441" "0000162733"
"0000100442" "0000162734"
"0000100443" "0000162735"
"0000100444" "0000162736"
"0000100445" "0000162737"
"0000100446" "0000162738"
"0000100447" "0000162739"
"0000100448" "0000162740"
"0000100449" "0000162741"
"0000100450" "0000162742"
"0000100451" "0000162743"
"0000100452" "0000162744"
"0000100452" "0000162745"
"0000100453" "0000162746"
"0000100454" "0000162747"
"0000100455" "0000162748"
"0000100456" "0000162749"
"0000100457" "0000162750"
"0000100458" "0000162751"
"0000100459" "0000162752"
"0000100460" "0000162753"
"0000100461" "0000162754"
"0000100462" "0000162755"
"0000100463" "0000162756"
"0000100464" "0000162757"
"0000100466" "0000162765"
"0000100467" "0000162766"
"0000100468" "0000162767"
"0000100469" "0000162768"
"0000100470" "0000162769"
"0000181455" "0000405151"
"0000181456" "0000405152"
"0000398576" "0000830790"