### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYP1A2) # 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}}" "CYP1A2" "cytochrome P450, family 1, subfamily A, polypeptide 2" "15" "q24.1" "unknown" "NG_008431.2" "UD_132118130703" "" "https://www.LOVD.nl/CYP1A2" "Human Cytochrome P450 (CYP) Allele Nomenclature Committee \r\nPharmGKB CYP1A2 " "1" "2596" "1544" "124060" "1" "1" "1" "1" "CYP1A2 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" "http://databases.lovd.nl/shared/refseq/CYP1A2_codingDNA.html" "1" "" "CYP1A2 reference haplotypes. Functional analysis variants" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00008" "2017-11-20 13:19:14" "00000" "2020-07-06 17:11:24" ## 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}}" "00005991" "CYP1A2" "cytochrome P450, family 1, subfamily A, polypeptide 2" "001" "NM_000761.3" "" "NP_000752.2" "" "" "" "-64" "3063" "1551" "75041184" "75048941" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "04264" "DMBp" "metabolism, drug, poor" "" "" "" "" "" "00006" "2015-05-14 15:38:48" "00006" "2021-12-11 13:56:28" "04271" "DMBup" "metabolism, drug, ultra-poor" "" "" "" "" "" "00006" "2015-05-14 16:04:51" "00006" "2021-12-11 13:56:28" "04272" "DMBr" "metabolism, drug, rapid" "" "" "" "" "" "00006" "2015-05-14 16:05:54" "00006" "2021-12-11 13:56:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CYP1A2" "04264" ## Individuals ## Do not remove or alter this header ## ## Count = 90 "{{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}}" "00106136" "" "" "" "1" "" "00006" "reference haplotype" "" "" "" "" "" "0" "" "" "" "" "00106137" "" "" "" "1" "" "00006" "reference haplotype" "" "" "" "" "" "0" "" "" "" "" "00112562" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112563" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112564" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112565" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112566" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112567" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112568" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112569" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112570" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112571" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112572" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112573" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112574" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112575" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112576" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112577" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112578" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112579" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112580" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112581" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112582" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112583" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112584" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112585" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112586" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112587" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112588" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112589" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112590" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112591" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112592" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112593" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112594" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112595" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112596" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112597" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112598" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112599" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112600" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112601" "" "" "" "1" "" "00008" "" "reference haplotype" "" "" "" "" "0" "" "" "- (not applicable)" "" "00112602" "" "" "" "1" "" "00008" "{PMID:Solus 2004:15469410}" "" "" "" "" "" "0" "" "" "" "" "00112603" "" "" "" "1" "" "00008" "{PMID:Solus 2004:15469410}" "" "" "" "" "" "0" "" "" "" "" "00112604" "" "" "" "1" "" "00008" "{PMID:Browning 2010:20881513}" "" "" "" "" "" "0" "" "" "" "" "00112605" "" "" "" "1" "" "00008" "{PMID:Browning 2010:20881513}" "" "" "" "" "" "0" "" "" "" "" "00112606" "" "" "" "1" "" "00008" "{PMID:Solus 2004:15469410}" "" "" "" "" "" "0" "" "" "" "" "00112607" "" "" "" "1" "" "00008" "Japanese patent number 05719026 {PMID:Sachse 1999 :10233211}, {PMID:Chida 1999:10551315}, {PMID:Han 2002:12445035}, {PMID:Sim 2013:23292087}" "" "" "" "" "" "0" "" "" "" "" "00112608" "" "" "" "1" "" "00008" "{PMID:Browning 2010:20881513}" "" "" "" "" "" "0" "" "" "" "" "00112609" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}" "" "" "" "" "" "0" "" "" "" "" "00112610" "" "" "" "1" "" "00008" "{PMID:Browning 2010:20881513}" "" "" "" "" "" "0" "" "" "" "" "00112611" "" "" "" "1" "" "00008" "{PMID:Chida 1999:10551315} Japanese patent number 05719026 " "" "" "" "" "" "0" "" "" "" "" "00112612" "" "" "" "1" "" "00008" "{PMID:Ghotbi 2007:17370067}" "" "" "" "" "" "0" "" "" "" "" "00112613" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}" "" "" "" "" "" "0" "" "" "" "" "00112614" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}" "" "" "" "" "" "0" "" "" "" "" "00112615" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}" "" "" "" "" "" "0" "" "" "" "" "00112616" "" "" "" "1" "" "00008" "{PMID:Ghotbi 2007:17370067}" "" "" "" "" "" "0" "" "" "" "" "00112617" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}" "" "" "" "" "" "0" "" "" "" "" "00112618" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}" "" "" "" "" "" "0" "" "" "" "" "00112619" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}" "" "" "" "" "" "0" "" "" "" "" "00112620" "" "" "" "1" "" "00008" "{PMID:Nakajima 1999:10101295}" "" "" "" "" "" "0" "" "" "" "" "00112621" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}" "" "" "" "" "" "0" "" "" "" "" "00112622" "" "" "" "1" "" "00008" "{PMID:Chida 1999:10551315} Japanese patent number 05719026 " "" "" "" "" "" "0" "" "" "" "" "00112623" "" "" "" "1" "" "00008" "{PMID:Aklillu 2003:12920202}" "" "" "" "" "" "0" "" "" "" "" "00112624" "" "" "" "1" "" "00008" "{PMID:Aklillu 2003:12920202}" "" "" "" "" "" "0" "" "" "" "" "00112625" "" "" "" "1" "" "00008" "{PMID:Chevalier 2001:11295848}" "" "" "" "" "" "0" "" "" "" "" "00112626" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}, {PMID:Saito 2005:16174806}" "" "" "" "" "" "0" "" "" "" "" "00112627" "" "" "" "1" "" "00008" "{PMID:Murayama 2004:14563787}" "" "" "" "" "" "0" "" "" "" "" "00112628" "" "" "" "1" "" "00008" "{PMID:Chevalier 2001:11295848}" "" "" "" "" "" "0" "" "" "" "" "00112629" "" "" "" "1" "" "00008" "{PMID:Zhou et 2004:14725854}, {PMID:Chevalier 2001:11295848}" "" "" "" "" "" "0" "" "" "" "" "00112630" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}, {PMID:Saito 2005:16174806}" "" "" "" "" "" "0" "" "" "" "" "00112631" "" "" "" "1" "" "00008" "{PMID:Murayama 2004:14563787}" "" "" "" "" "" "0" "" "" "" "" "00112632" "" "" "" "1" "" "00008" "{PMID:Zhou et 2004:14725854}, {PMID:Chevalier 2001:11295848}" "" "" "" "" "" "0" "" "" "" "" "00112633" "" "" "" "1" "" "00008" "{PMID:Browning 2010:20881513}" "" "" "" "" "" "0" "" "" "" "" "00112634" "" "" "" "1" "" "00008" "{PMID:Chevalier 2001:11295848}" "" "" "" "" "" "0" "" "" "" "" "00112635" "" "" "" "1" "" "00008" "{PMID:Allorge 2003:12919186}" "" "" "" "" "" "0" "" "" "" "" "00112636" "" "" "" "1" "" "00008" "{PMID:Murayama 2004:14563787}" "" "" "" "" "" "0" "" "" "" "" "00112637" "" "" "" "1" "" "00008" "{PMID:Zhou et 2004:14725854}, {PMID:Chevalier 2001:11295848}" "" "" "" "" "" "0" "" "" "" "" "00112638" "" "" "" "1" "" "00008" "{PMID:Browning 2010:20881513}" "" "" "" "" "" "0" "" "" "" "" "00112639" "" "" "" "1" "" "00008" "{PMID:Murayama 2004:14563787}" "" "" "" "" "" "0" "" "" "" "" "00112640" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}, {PMID:Saito 2005:16174806}" "" "" "" "" "" "0" "" "" "" "" "00112641" "" "" "" "1" "" "00008" "{PMID:Browning 2010:20881513}" "" "" "" "" "" "0" "" "" "" "" "00112642" "" "" "" "1" "" "00008" "{PMID:Welfare 1999:10471069}, {PMID:Nakajima 1999:10101295}" "" "" "" "" "" "0" "" "" "" "" "00112643" "" "" "" "1" "" "00008" "{PMID:Murayama 2004:14563787}" "" "" "" "" "" "0" "" "" "" "" "00112644" "" "" "" "1" "" "00008" "{PMID:Murayama 2004:14563787}" "" "" "" "" "" "0" "" "" "" "" "00112645" "" "" "" "1" "" "00008" "{PMID:Huang 1999:9884316}" "" "" "" "" "" "0" "" "" "" "" "00112646" "" "" "" "1" "" "00008" "{PMID:Soyama 2005:15770072}" "" "" "" "" "" "0" "" "" "" "" "00248202" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00248224" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00248237" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 90 "{{individualid}}" "{{diseaseid}}" "00106136" "04264" "00106137" "04272" "00112562" "00198" "00112563" "04264" "00112564" "00198" "00112565" "00198" "00112566" "00198" "00112567" "04264" "00112568" "04264" "00112569" "00198" "00112570" "00198" "00112571" "00198" "00112572" "00198" "00112573" "04264" "00112574" "00198" "00112575" "00198" "00112576" "00198" "00112577" "00198" "00112578" "00198" "00112579" "00198" "00112580" "04264" "00112581" "00198" "00112582" "00198" "00112583" "00198" "00112584" "00198" "00112585" "00198" "00112586" "00198" "00112587" "00198" "00112588" "00198" "00112589" "00198" "00112590" "00198" "00112591" "00198" "00112592" "00198" "00112593" "00198" "00112594" "00198" "00112595" "04264" "00112596" "04264" "00112597" "00198" "00112598" "04271" "00112599" "04264" "00112600" "04264" "00112601" "00198" "00112602" "00198" "00112603" "00198" "00112604" "00198" "00112605" "00198" "00112606" "00198" "00112607" "00198" "00112608" "00198" "00112609" "00198" "00112610" "00198" "00112611" "00198" "00112612" "00198" "00112613" "00198" "00112614" "00198" "00112615" "00198" "00112616" "00198" "00112617" "00198" "00112618" "00198" "00112619" "00198" "00112620" "00198" "00112621" "00198" "00112622" "00198" "00112623" "00198" "00112624" "00198" "00112625" "00198" "00112626" "00198" "00112627" "00198" "00112628" "00198" "00112629" "00198" "00112630" "00198" "00112631" "00198" "00112632" "00198" "00112633" "00198" "00112634" "00198" "00112635" "00198" "00112636" "00198" "00112637" "00198" "00112638" "00198" "00112639" "00198" "00112640" "00198" "00112641" "00198" "00112642" "00198" "00112643" "00198" "00112644" "00198" "00112645" "00198" "00112646" "00198" "00248202" "00318" "00248224" "00318" "00248237" "00318" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 04264, 04271, 04272 ## Count = 5 "{{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}}" "0000083948" "04264" "00106136" "00006" "Familial, autosomal recessive" "" "decreased activity" "" "" "" "" "" "" "" "" "" "" "" "0000083949" "04272" "00106137" "00006" "Unknown" "" "increased activity" "" "" "" "" "" "" "" "" "" "" "" "0000187211" "00318" "00248202" "01474" "Unknown" "" "26y ductal breast cancer, subtype HER-2" "26y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000187233" "00318" "00248224" "01474" "Unknown" "" "31y ductal breast cancer, subtype HER-2" "31y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000187246" "00318" "00248237" "01474" "Unknown" "" "41y ductal reast cancer" "41y" "" "" "" "" "" "" "" "" "breast cancer" "" ## Screenings ## Do not remove or alter this header ## ## Count = 90 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000106607" "00106136" "1" "00006" "00006" "2017-06-30 10:43:14" "" "" "SEQ" "DNA" "" "" "0000106608" "00106137" "1" "00006" "00006" "2017-06-30 10:50:20" "" "" "SEQ" "DNA" "" "" "0000113020" "00112562" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113021" "00112563" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113022" "00112564" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113023" "00112565" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113024" "00112566" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113025" "00112567" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113026" "00112568" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113027" "00112569" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113028" "00112570" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113029" "00112571" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113030" "00112572" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113031" "00112573" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113032" "00112574" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113033" "00112575" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113034" "00112576" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113035" "00112577" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113036" "00112578" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113037" "00112579" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113038" "00112580" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113039" "00112581" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113040" "00112582" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113041" "00112583" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113042" "00112584" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113043" "00112585" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113044" "00112586" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113045" "00112587" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113046" "00112588" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113047" "00112589" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113048" "00112590" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113049" "00112591" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113050" "00112592" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113051" "00112593" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113052" "00112594" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113053" "00112595" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113054" "00112596" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113055" "00112597" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113056" "00112598" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113057" "00112599" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113058" "00112600" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113059" "00112601" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113060" "00112602" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113061" "00112603" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113062" "00112604" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113063" "00112605" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113064" "00112606" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113065" "00112607" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113066" "00112608" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113067" "00112609" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113068" "00112610" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113069" "00112611" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113070" "00112612" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113071" "00112613" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113072" "00112614" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113073" "00112615" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113074" "00112616" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113075" "00112617" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113076" "00112618" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113077" "00112619" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113078" "00112620" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113079" "00112621" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113080" "00112622" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113081" "00112623" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113082" "00112624" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113083" "00112625" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113084" "00112626" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113085" "00112627" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113086" "00112628" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113087" "00112629" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113088" "00112630" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113089" "00112631" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113090" "00112632" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113091" "00112633" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113092" "00112634" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113093" "00112635" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113094" "00112636" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113095" "00112637" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113096" "00112638" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113097" "00112639" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113098" "00112640" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113099" "00112641" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113100" "00112642" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113101" "00112643" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113102" "00112644" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113103" "00112645" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000113104" "00112646" "1" "00008" "01294" "2017-08-04 21:56:05" "" "" "SEQ" "DNA" "" "" "0000249307" "00248202" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000249329" "00248224" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000249342" "00248237" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 87 "{{screeningid}}" "{{geneid}}" "0000106607" "CYP1A2" "0000106608" "CYP1A2" "0000113020" "CYP1A2" "0000113021" "CYP1A2" "0000113022" "CYP1A2" "0000113023" "CYP1A2" "0000113024" "CYP1A2" "0000113025" "CYP1A2" "0000113026" "CYP1A2" "0000113027" "CYP1A2" "0000113028" "CYP1A2" "0000113029" "CYP1A2" "0000113030" "CYP1A2" "0000113031" "CYP1A2" "0000113032" "CYP1A2" "0000113033" "CYP1A2" "0000113034" "CYP1A2" "0000113035" "CYP1A2" "0000113036" "CYP1A2" "0000113037" "CYP1A2" "0000113038" "CYP1A2" "0000113039" "CYP1A2" "0000113040" "CYP1A2" "0000113041" "CYP1A2" "0000113042" "CYP1A2" "0000113043" "CYP1A2" "0000113044" "CYP1A2" "0000113045" "CYP1A2" "0000113046" "CYP1A2" "0000113047" "CYP1A2" "0000113048" "CYP1A2" "0000113049" "CYP1A2" "0000113050" "CYP1A2" "0000113051" "CYP1A2" "0000113052" "CYP1A2" "0000113053" "CYP1A2" "0000113054" "CYP1A2" "0000113055" "CYP1A2" "0000113056" "CYP1A2" "0000113057" "CYP1A2" "0000113058" "CYP1A2" "0000113059" "CYP1A2" "0000113060" "CYP1A2" "0000113061" "CYP1A2" "0000113062" "CYP1A2" "0000113063" "CYP1A2" "0000113064" "CYP1A2" "0000113065" "CYP1A2" "0000113066" "CYP1A2" "0000113067" "CYP1A2" "0000113068" "CYP1A2" "0000113069" "CYP1A2" "0000113070" "CYP1A2" "0000113071" "CYP1A2" "0000113072" "CYP1A2" "0000113073" "CYP1A2" "0000113074" "CYP1A2" "0000113075" "CYP1A2" "0000113076" "CYP1A2" "0000113077" "CYP1A2" "0000113078" "CYP1A2" "0000113079" "CYP1A2" "0000113080" "CYP1A2" "0000113081" "CYP1A2" "0000113082" "CYP1A2" "0000113083" "CYP1A2" "0000113084" "CYP1A2" "0000113085" "CYP1A2" "0000113086" "CYP1A2" "0000113087" "CYP1A2" "0000113088" "CYP1A2" "0000113089" "CYP1A2" "0000113090" "CYP1A2" "0000113091" "CYP1A2" "0000113092" "CYP1A2" "0000113093" "CYP1A2" "0000113094" "CYP1A2" "0000113095" "CYP1A2" "0000113096" "CYP1A2" "0000113097" "CYP1A2" "0000113098" "CYP1A2" "0000113099" "CYP1A2" "0000113100" "CYP1A2" "0000113101" "CYP1A2" "0000113102" "CYP1A2" "0000113103" "CYP1A2" "0000113104" "CYP1A2" ## 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 = 195 "{{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}}" "0000172294" "1" "99" "15" "75038220" "75038220" "subst" "0" "00006" "CYP1A2_000001" "g.75038220G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-3860G>A" "reference haplotype CYP1A2*1C; decreased activity" "Germline" "" "rs2069514" "0" "" "" "g.74745879G>A" "" "pathogenic" "" "0000172295" "1" "99" "15" "75041917" "75041917" "subst" "0" "00006" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1F; increased activity" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "pathogenic" "" "0000181751" "1" "11" "15" "75042581" "75042581" "subst" "8.12176E-6" "00008" "CYP1A2_000018" "g.75042581G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "502G>C (E168Q)" "reference haplotype CYP1A2*10" "Germline" "" "rs72547512" "0" "" "" "g.74750240G>C" "" "benign" "" "0000181752" "1" "99" "15" "75042637" "75042637" "subst" "0" "00008" "CYP1A2_000019" "g.75042637C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "558C>A (F186L)" "reference haplotype CYP1A2*11 / In-vitro Decreased expression" "Germline" "" "rs72547513" "0" "" "" "g.74750296C>A" "" "pathogenic" "" "0000181753" "1" "11" "15" "75042713" "75042713" "subst" "2.03028E-5" "00008" "CYP1A2_000020" "g.75042713A>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "634A>T (S212C)" "reference haplotype CYP1A2*12" "Germline" "" "" "0" "" "" "g.74750372A>T" "" "benign" "" "0000181754" "1" "11" "15" "75043593" "75043593" "subst" "0.00136866" "00008" "CYP1A2_000023" "g.75043593G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "1514G>A (G299S)" "reference haplotype CYP1A2*13" "Germline" "" "rs35796837" "0" "" "" "g.74751252G>A" "" "benign" "" "0000181755" "1" "11" "15" "75047191" "75047191" "subst" "0.00168923" "00008" "CYP1A2_000042" "g.75047191C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5112C>T (T438I)" "reference haplotype CYP1A2*14" "Germline" "" "rs45486893" "0" "" "" "g.74754850C>T" "" "benign" "" "0000181756" "1" "99" "15" "75042204" "75042204" "subst" "0" "00008" "CYP1A2_000016" "g.75042204C>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "125C>G (P42R)" "reference haplotype CYP1A2*15 / In-vitro Decrease (? 2 variants)" "Germline" "" "rs72547511" "0" "" "" "g.74749863C>G" "" "pathogenic" "" "0000181757" "1" "99" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*15 / In-vitro Decrease (? 2 variants)" "Germline" "" "rs2470890" "0" "" "" "" "" "pathogenic" "" "0000181758" "1" "99" "15" "75044552" "75044552" "subst" "0" "00008" "CYP1A2_000029" "g.75044552G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2473G>A (R377Q)" "reference haplotype CYP1A2*16 / In-vitro Decrease (? 2 variants)" "Germline" "" "rs72547515" "0" "" "" "g.74752211G>A" "" "pathogenic" "" "0000181759" "1" "99" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*16 / In-vitro Decrease (? 2 variants)" "Germline" "" "rs2470890" "0" "" "" "" "" "pathogenic" "" "0000181760" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*17" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181761" "1" "11" "15" "75044238" "75044238" "subst" "0.457951" "00008" "CYP1A2_000027" "g.75044238G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2159G>A" "reference haplotype CYP1A2*17" "Germline" "" "rs2472304" "0" "" "" "g.74751897G>A" "" "benign" "" "0000181762" "1" "11" "15" "75045542" "75045542" "subst" "4.06131E-5" "00008" "CYP1A2_000034" "g.75045542C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "3463C>T (T395M)" "reference haplotype CYP1A2*17" "Germline" "" "rs149928755" "0" "" "" "g.74753201C>T" "" "benign" "" "0000181763" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*17" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181764" "1" "11" "15" "75045547" "75045547" "subst" "0" "00008" "CYP1A2_000035" "g.75045547A>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "3468A>C (N397H)" "reference haplotype CYP1A2*18" "Germline" "" "" "0" "" "" "g.74753206A>C" "" "benign" "" "0000181765" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*18" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181766" "1" "11" "15" "75047407" "75047407" "subst" "8.19639E-6" "00008" "CYP1A2_000047" "g.75047407G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5328G>A (R510Q)" "reference haplotype CYP1A2*19" "Germline" "" "" "0" "" "" "g.74755066G>A" "" "benign" "" "0000181767" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*19" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181768" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1B" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181769" "1" "99" "15" "75038220" "75038220" "subst" "0" "00008" "CYP1A2_000001" "g.75038220G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-3860G>A" "reference haplotype CYP1A2*1C / In-vivo Decreased expression" "Germline" "" "rs2069514" "0" "" "" "g.74745879G>A" "" "pathogenic" "" "0000181770" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2467delT" "reference haplotype CYP1A2*1D" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181771" "1" "11" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-739T>G" "reference haplotype CYP1A2*1E" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "benign" "" "0000181772" "1" "99" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1F / In-vivo Higher inducibility / There is confusion about the definition of the CYP1A2*1F allele in the literature. Please observe that according to the Human CYP-allele Nomenclature Committee the CYP1A2*1F allele is defined as having -163A." "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "pathogenic" "" "0000181773" "1" "11" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-739T>G" "reference haplotype CYP1A2*1G" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "benign" "" "0000181774" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1G" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181775" "1" "11" "15" "75047284" "75047284" "subst" "0" "00008" "CYP1A2_000044" "g.75047284A>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2025A>C" "reference haplotype CYP1A2*1H\r\nVariant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181776" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1H" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181777" "1" "11" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-739T>G" "reference haplotype CYP1A2*1J" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "benign" "" "0000181778" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1J" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181779" "1" "99" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-739T>G" "reference haplotype CYP1A2*1K / In-vivo Decrease (? 3 variants)" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "pathogenic" "" "0000181780" "1" "99" "15" "75041351" "75041351" "subst" "0" "00008" "CYP1A2_000012" "g.75041351C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-729C>T" "reference haplotype CYP1A2*1K / In-vivo Decrease (? 3 variants)" "Germline" "" "rs12720461" "0" "" "" "g.74749010C>T" "" "pathogenic" "" "0000181781" "1" "99" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1K / In-vivo Decrease (? 3 variants)" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "pathogenic" "" "0000181782" "1" "11" "15" "75038220" "75038220" "subst" "0" "00008" "CYP1A2_000001" "g.75038220G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-3860G>A" "reference haplotype CYP1A2*1LPredicted haplotype" "Germline" "" "rs2069514" "0" "" "" "g.74745879G>A" "" "benign" "" "0000181783" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1LPredicted haplotype" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181784" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1LPredicted haplotype" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181785" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2467delT" "reference haplotype CYP1A2*1LPredicted haplotype" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181786" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1MPredicted haplotype" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181787" "1" "11" "15" "75044238" "75044238" "subst" "0.457951" "00008" "CYP1A2_000027" "g.75044238G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2159G>A" "reference haplotype CYP1A2*1MPredicted haplotype" "Germline" "" "rs2472304" "0" "" "" "g.74751897G>A" "" "benign" "" "0000181788" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1NPredicted haplotype" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181789" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2467delT" "reference haplotype CYP1A2*1NPredicted haplotype" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181790" "1" "11" "15" "75038486" "75038486" "subst" "0" "00008" "CYP1A2_000003" "g.75038486T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-3594T>G" "reference haplotype CYP1A2*1NPredicted haplotype" "Germline" "" "" "0" "" "" "g.74746145T>G" "" "benign" "" "0000181791" "1" "11" "15" "75044400" "75044400" "subst" "0" "00008" "CYP1A2_000028" "g.75044400G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2321G>C" "reference haplotype CYP1A2*1NPredicted haplotype\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181792" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1NPredicted haplotype" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181793" "1" "11" "15" "75047600" "75047600" "subst" "0" "00008" "CYP1A2_000049" "g.75047600A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5521A>G" "reference haplotype CYP1A2*1NPredicted haplotype\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181794" "1" "11" "15" "75041347" "75041347" "subst" "0" "00008" "CYP1A2_000011" "g.75041347G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-733G>C" "reference haplotype CYP1A2*1PPredicted haplotype" "Germline" "" "" "0" "" "" "g.74749006G>C" "" "benign" "" "0000181795" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1PPredicted haplotype" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181796" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2467delT" "reference haplotype CYP1A2*1PPredicted haplotype" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181797" "1" "11" "15" "75038486" "75038486" "subst" "0" "00008" "CYP1A2_000003" "g.75038486T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-3594T>G" "reference haplotype CYP1A2*1PPredicted haplotype" "Germline" "" "" "0" "" "" "g.74746145T>G" "" "benign" "" "0000181798" "1" "11" "15" "75044400" "75044400" "subst" "0" "00008" "CYP1A2_000028" "g.75044400G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2321G>C" "reference haplotype CYP1A2*1PPredicted haplotype\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181799" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1PPredicted haplotype" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181800" "1" "11" "15" "75047600" "75047600" "subst" "0" "00008" "CYP1A2_000049" "g.75047600A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5521A>G" "reference haplotype CYP1A2*1PPredicted haplotype\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181801" "1" "11" "15" "75039272" "75039272" "subst" "0" "00008" "CYP1A2_000006" "g.75039272A>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2808A>C" "reference haplotype CYP1A2*1QPredicted haplotype" "Germline" "" "" "0" "" "" "g.74746931A>C" "" "benign" "" "0000181802" "1" "11" "15" "75044238" "75044238" "subst" "0.457951" "00008" "CYP1A2_000027" "g.75044238G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2159G>A" "reference haplotype CYP1A2*1QPredicted haplotype" "Germline" "" "rs2472304" "0" "" "" "g.74751897G>A" "" "benign" "" "0000181803" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1QPredicted haplotype" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181804" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1RPredicted haplotype" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181805" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2467delT" "reference haplotype CYP1A2*1RPredicted haplotype" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181806" "1" "11" "15" "75041713" "75041713" "subst" "0" "00008" "CYP1A2_000013" "g.75041713C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-367C>T" "reference haplotype CYP1A2*1RPredicted haplotype" "Germline" "" "" "0" "" "" "g.74749372C>A" "" "benign" "" "0000181807" "1" "11" "15" "75038486" "75038486" "subst" "0" "00008" "CYP1A2_000003" "g.75038486T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-3594T>G" "reference haplotype CYP1A2*1RPredicted haplotype" "Germline" "" "" "0" "" "" "g.74746145T>G" "" "benign" "" "0000181808" "1" "11" "15" "75044400" "75044400" "subst" "0" "00008" "CYP1A2_000028" "g.75044400G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2321G>C" "reference haplotype CYP1A2*1RPredicted haplotype\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181809" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1RPredicted haplotype" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181810" "1" "11" "15" "75047600" "75047600" "subst" "0" "00008" "CYP1A2_000049" "g.75047600A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5521A>G" "reference haplotype CYP1A2*1RPredicted haplotype\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181811" "1" "11" "15" "75039027" "75039027" "subst" "0" "00008" "CYP1A2_000005" "g.75039027A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-3053A>G" "reference haplotype CYP1A2*1SPredicted haplotype" "Germline" "" "" "0" "" "" "g.74746686A>G" "" "benign" "" "0000181812" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1SPredicted haplotype" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181813" "1" "11" "15" "75039413" "75039413" "subst" "0" "00008" "CYP1A2_000007" "g.75039413T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2667T>G" "reference haplotype CYP1A2*1TPredicted haplotype" "Germline" "" "" "0" "" "" "g.74747072T>G" "" "benign" "" "0000181814" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1TPredicted haplotype" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181815" "1" "11" "15" "75042757" "75042757" "subst" "0" "00008" "CYP1A2_000021" "g.75042757C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "678C>T" "reference haplotype CYP1A2*1UPredicted haplotype" "Germline" "" "" "0" "" "" "g.74750416C>T" "" "benign" "" "0000181816" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*1UPredicted haplotype" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181817" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2467delT" "reference haplotype CYP1A2*1VPredicted haplotype" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181818" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1VPredicted haplotype" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181819" "1" "11" "15" "75038967" "75038967" "subst" "0" "00008" "CYP1A2_000004" "g.75038967A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-3113A>G" "reference haplotype CYP1A2*1WPredicted haplotype\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181820" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2467delT" "reference haplotype CYP1A2*1WPredicted haplotype" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181821" "1" "11" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-739T>G" "reference haplotype CYP1A2*1WPredicted haplotype" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "benign" "" "0000181822" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*1WPredicted haplotype" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181823" "1" "11" "15" "75042142" "75042142" "subst" "0.000161369" "00008" "CYP1A2_000015" "g.75042142C>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "63C>G (F21L)" "reference haplotype CYP1A2*2" "Germline" "" "rs56160784" "0" "" "" "g.74749801C>G" "" "benign" "" "0000181824" "1" "11" "15" "75047184" "75047184" "subst" "0.000166488" "00008" "CYP1A2_000041" "g.75047184G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5105G>A (D436N)" "reference haplotype CYP1A2*20" "Germline" "" "rs144148965" "0" "" "" "g.74754843G>A" "" "benign" "" "0000181825" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*20" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181826" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-163C>A" "reference haplotype CYP1A2*21" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181827" "1" "11" "15" "75043592" "75043592" "subst" "0.00549107" "00008" "CYP1A2_000022" "g.75043592C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "1513C>A (S298R)" "reference haplotype CYP1A2*21" "Germline" "" "rs17861157" "0" "" "" "g.74751251C>A" "" "benign" "" "0000181828" "1" "11" "15" "75047363" "75047363" "subst" "8.13517E-6" "00008" "CYP1A2_000046" "g.75047363C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5284C>A (Y495X)" "reference haplotype CYP1A2*21" "Germline" "" "rs143193369" "0" "" "" "g.74755022C>A" "" "benign" "" "0000181829" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*21" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181830" "1" "99" "15" "75044195" "75044195" "subst" "0.000166809" "00008" "CYP1A2_000026" "g.75044195G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2116G>A (D348N)" "reference haplotype CYP1A2*3 / In-vitro Decrease (? 2 variants)" "Germline" "" "rs56276455" "0" "" "" "g.74751854G>A" "" "pathogenic" "" "0000181831" "1" "99" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*3 / In-vivo Decreased expression" "Germline" "" "rs2470890" "0" "" "" "" "" "pathogenic" "" "0000181832" "1" "99" "15" "75044578" "75044578" "subst" "0.0013169" "00008" "CYP1A2_000030" "g.75044578A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2499A>T (I386F)" "reference haplotype CYP1A2*4 / In-vivo Decreased expression" "Germline" "" "rs72547516" "0" "" "" "g.74752237A>G" "" "pathogenic" "" "0000181833" "1" "11" "15" "75045575" "75045575" "subst" "8.12183E-6" "00008" "CYP1A2_000036" "g.75045575G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "3496G>A (C406Y)" "reference haplotype CYP1A2*5" "Germline" "" "rs55889066" "0" "" "" "g.74753234G>A" "" "benign" "" "0000181834" "1" "99" "15" "75047169" "75047169" "subst" "0.00117804" "00008" "CYP1A2_000039" "g.75047169C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5090C>T (R431W)" "reference haplotype CYP1A2*6 / In-vivo Abolished expression" "Germline" "" "rs28399424" "0" "" "" "g.74754828C>T" "" "pathogenic" "" "0000181835" "1" "99" "15" "75045612" "75045612" "subst" "0.000223461" "00008" "CYP1A2_000037" "g.75045612G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "3533G>A (Splicing defect )" "reference haplotype CYP1A2*7 / In-vivo Decreased expression" "Germline" "" "rs56107638" "0" "" "" "g.74753271G>A" "" "pathogenic" "" "0000181836" "1" "99" "15" "75047245" "75047245" "subst" "3.24844E-5" "00008" "CYP1A2_000043" "g.75047245G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5166G>A (R456H)" "reference haplotype CYP1A2*8 / In-vitro Decrease (? 2 variants)" "Germline" "" "rs72547517" "0" "" "" "g.74754904G>A" "" "pathogenic" "" "0000181837" "1" "99" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5347T>C" "reference haplotype CYP1A2*8 / In-vitro Decrease (? 2 variants)" "Germline" "" "rs2470890" "0" "" "" "" "" "pathogenic" "" "0000181838" "1" "11" "15" "75042327" "75042327" "subst" "0.000130061" "00008" "CYP1A2_000017" "g.75042327C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "248C>T (T83M)" "reference haplotype CYP1A2*9" "Germline" "" "rs138652540" "0" "" "" "g.74749986C>T" "" "benign" "" "0000181839" "1" "11" "15" "75041029" "75041029" "subst" "0" "00008" "CYP1A2_000009" "g.75041029T>C" "" "{PMID:Solus 2004:15469410}" "" "-1051T>C" "" "Germline" "" "" "0" "" "" "g.74748688T>C" "" "benign" "" "0000181840" "1" "11" "15" "75044124" "75044124" "subst" "3.25047E-5" "00008" "CYP1A2_000025" "g.75044124C>T" "" "{PMID:Solus 2004:15469410}" "" "1590C>T" "" "Germline" "" "" "0" "" "" "g.74751783C>T" "" "benign" "" "0000181841" "1" "11" "15" "75044649" "75044649" "subst" "0" "00008" "CYP1A2_000031" "g.75044649G>A" "" "{PMID:Solus 2004:15469410}" "" "2570G>A" "" "Germline" "" "" "0" "" "" "g.74752308G>A" "" "benign" "" "0000181842" "1" "11" "15" "75044725" "75044725" "subst" "0" "00008" "CYP1A2_000032" "g.75044725C>T" "" "{PMID:Solus 2004:15469410}" "" "2646C>T" "" "Germline" "" "" "0" "" "" "g.74752384C>T" "" "benign" "" "0000181843" "1" "11" "15" "75044773" "75044773" "subst" "0" "00008" "CYP1A2_000033" "g.75044773A>C" "" "{PMID:Solus 2004:15469410}" "" "2694A>C" "" "Germline" "" "" "0" "" "" "g.74752432A>C" "" "benign" "" "0000181844" "1" "11" "15" "75047089" "75047089" "subst" "0.0193843" "00008" "CYP1A2_000038" "g.75047089C>T" "" "{PMID:Solus 2004:15469410}" "" "5010C>T" "" "Germline" "" "" "0" "" "" "g.74754748C>T" "" "benign" "" "0000181845" "1" "11" "15" "75047600" "75047600" "subst" "0" "00008" "CYP1A2_000049" "g.75047600A>G" "" "{PMID:Solus 2004:15469410}" "" "5521A>G" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181846" "1" "11" "15" "75043638" "75043638" "subst" "0.000633698" "00008" "CYP1A2_000024" "g.75043638A>G" "" "{PMID:Solus 2004:15469410}" "" "1559A>G (I314V)" "" "Germline" "" "rs28399418" "0" "" "" "g.74751297A>G" "" "benign" "" "0000181847" "1" "11" "15" "75041347" "75041347" "subst" "0" "00008" "CYP1A2_000011" "g.75041347G>C" "" "{PMID:Solus 2004:15469410}" "" "-733G>C" "" "Germline" "" "" "0" "" "" "g.74749006G>C" "" "benign" "" "0000181848" "1" "11" "15" "75047173" "75047173" "subst" "4.06514E-6" "00008" "CYP1A2_000040" "g.75047173T>C" "" "{PMID:Browning 2010:20881513}" "" "5094T>C (F432S)" "" "Germline" "" "" "0" "" "" "g.74754832T>C" "" "benign" "" "0000181849" "1" "11" "15" "75047332" "75047332" "subst" "0" "00008" "CYP1A2_000045" "g.75047332C>G" "" "{PMID:Browning 2010:20881513}" "" "5253C>G (P485R)" "" "Germline" "" "" "0" "" "" "g.74754991C>G" "" "benign" "" "0000181850" "1" "11" "15" "75042132" "75042132" "subst" "0.000618627" "00008" "CYP1A2_000014" "g.75042132C>G" "" "{PMID:Solus 2004:15469410}" "" "53C>G (S18C)" "" "Germline" "" "rs17861152" "0" "" "" "g.74749791C>G" "" "benign" "" "0000181851" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "Japanese patent number 05719026 {PMID:Sachse 1999 :10233211}{PMID:Chida 1999:10551315}{PMID:Han 2002:12445035}{PMID:Sim 2013:23292087}" "" "-163C>A" "There is confusion about the definition of the CYP1A2*1F allele in the literature. Please observe that according to the Human CYP-allele Nomenclature Committee the CYP1A2*1F allele is defined as having -163A." "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181852" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Browning 2010:20881513}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181853" "1" "11" "15" "75043592" "75043592" "subst" "0.00549107" "00008" "CYP1A2_000022" "g.75043592C>A" "" "{PMID:Browning 2010:20881513}" "" "1513C>A (S298R)" "" "Germline" "" "rs17861157" "0" "" "" "g.74751251C>A" "" "benign" "" "0000181854" "1" "11" "15" "75047363" "75047363" "subst" "8.13517E-6" "00008" "CYP1A2_000046" "g.75047363C>A" "" "{PMID:Browning 2010:20881513}" "" "5284C>A (Y495X)" "" "Germline" "" "rs143193369" "0" "" "" "g.74755022C>A" "" "benign" "" "0000181855" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Browning 2010:20881513}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181856" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Soyama 2005:15770072}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181857" "1" "11" "15" "75044238" "75044238" "subst" "0.457951" "00008" "CYP1A2_000027" "g.75044238G>A" "" "{PMID:Soyama 2005:15770072}" "" "2159G>A" "" "Germline" "" "rs2472304" "0" "" "" "g.74751897G>A" "" "benign" "" "0000181858" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Soyama 2005:15770072}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181859" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "{PMID:Soyama 2005:15770072}" "" "-2467delT" "" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181860" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Browning 2010:20881513}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181861" "1" "11" "15" "75044238" "75044238" "subst" "0.457951" "00008" "CYP1A2_000027" "g.75044238G>A" "" "{PMID:Browning 2010:20881513}" "" "2159G>A" "" "Germline" "" "rs2472304" "0" "" "" "g.74751897G>A" "" "benign" "" "0000181862" "1" "11" "15" "75045542" "75045542" "subst" "4.06131E-5" "00008" "CYP1A2_000034" "g.75045542C>T" "" "{PMID:Browning 2010:20881513}" "" "3463C>T (T395M)" "" "Germline" "" "rs149928755" "0" "" "" "g.74753201C>T" "" "benign" "" "0000181863" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Browning 2010:20881513}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181864" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "{PMID:Chida 1999:10551315} Japanese patent number 05719026 " "" "-2467delT" "" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181865" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "{PMID:Ghotbi 2007:17370067}" "" "-2467delT" "" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181866" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Ghotbi 2007:17370067}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181867" "1" "11" "15" "75039413" "75039413" "subst" "0" "00008" "CYP1A2_000007" "g.75039413T>G" "" "{PMID:Soyama 2005:15770072}" "" "-2667T>G" "" "Germline" "" "" "0" "" "" "g.74747072T>G" "" "benign" "" "0000181868" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181869" "1" "11" "15" "75039272" "75039272" "subst" "0" "00008" "CYP1A2_000006" "g.75039272A>C" "" "{PMID:Soyama 2005:15770072}" "" "-2808A>C" "" "Germline" "" "" "0" "" "" "g.74746931A>C" "" "benign" "" "0000181870" "1" "11" "15" "75044238" "75044238" "subst" "0.457951" "00008" "CYP1A2_000027" "g.75044238G>A" "" "{PMID:Soyama 2005:15770072}" "" "2159G>A" "" "Germline" "" "rs2472304" "0" "" "" "g.74751897G>A" "" "benign" "" "0000181871" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Soyama 2005:15770072}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181872" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "{PMID:Soyama 2005:15770072}" "" "-2467delT" "" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181873" "1" "11" "15" "75041713" "75041713" "subst" "0" "00008" "CYP1A2_000013" "g.75041713C>A" "" "{PMID:Soyama 2005:15770072}" "" "-367C>T" "" "Germline" "" "" "0" "" "" "g.74749372C>A" "" "benign" "" "0000181874" "1" "11" "15" "75039027" "75039027" "subst" "0" "00008" "CYP1A2_000005" "g.75039027A>G" "" "{PMID:Soyama 2005:15770072}" "" "-3053A>G" "" "Germline" "" "" "0" "" "" "g.74746686A>G" "" "benign" "" "0000181875" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181876" "1" "11" "15" "75038967" "75038967" "subst" "0" "00008" "CYP1A2_000004" "g.75038967A>G" "" "{PMID:Ghotbi 2007:17370067}" "" "-3113A>G" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181877" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "{PMID:Ghotbi 2007:17370067}" "" "-2467delT" "" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181878" "1" "11" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "{PMID:Ghotbi 2007:17370067}" "" "-739T>G" "" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "benign" "" "0000181879" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Ghotbi 2007:17370067}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181880" "1" "11" "15" "75038486" "75038486" "subst" "0" "00008" "CYP1A2_000003" "g.75038486T>G" "" "{PMID:Soyama 2005:15770072}" "" "-3594T>G" "" "Germline" "" "" "0" "" "" "g.74746145T>G" "" "benign" "" "0000181881" "1" "11" "15" "75044400" "75044400" "subst" "0" "00008" "CYP1A2_000028" "g.75044400G>C" "" "{PMID:Soyama 2005:15770072}" "" "2321G>C" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181882" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181883" "1" "11" "15" "75047600" "75047600" "subst" "0" "00008" "CYP1A2_000049" "g.75047600A>G" "" "{PMID:Soyama 2005:15770072}" "" "5521A>G" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181884" "1" "11" "15" "75041347" "75041347" "subst" "0" "00008" "CYP1A2_000011" "g.75041347G>C" "" "{PMID:Soyama 2005:15770072}" "" "-733G>C" "" "Germline" "" "" "0" "" "" "g.74749006G>C" "" "benign" "" "0000181885" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Soyama 2005:15770072}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181886" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "{PMID:Soyama 2005:15770072}" "" "-2467delT" "" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181887" "1" "11" "15" "75038486" "75038486" "subst" "0" "00008" "CYP1A2_000003" "g.75038486T>G" "" "{PMID:Soyama 2005:15770072}" "" "-3594T>G" "" "Germline" "" "" "0" "" "" "g.74746145T>G" "" "benign" "" "0000181888" "1" "11" "15" "75044400" "75044400" "subst" "0" "00008" "CYP1A2_000028" "g.75044400G>C" "" "{PMID:Soyama 2005:15770072}" "" "2321G>C" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181889" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181890" "1" "11" "15" "75047600" "75047600" "subst" "0" "00008" "CYP1A2_000049" "g.75047600A>G" "" "{PMID:Soyama 2005:15770072}" "" "5521A>G" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181891" "1" "11" "15" "75038486" "75038486" "subst" "0" "00008" "CYP1A2_000003" "g.75038486T>G" "" "{PMID:Soyama 2005:15770072}" "" "-3594T>G" "" "Germline" "" "" "0" "" "" "g.74746145T>G" "" "benign" "" "0000181892" "1" "11" "15" "75044400" "75044400" "subst" "0" "00008" "CYP1A2_000028" "g.75044400G>C" "" "{PMID:Soyama 2005:15770072}" "" "2321G>C" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181893" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181894" "1" "11" "15" "75047600" "75047600" "subst" "0" "00008" "CYP1A2_000049" "g.75047600A>G" "" "{PMID:Soyama 2005:15770072}" "" "5521A>G" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181895" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Soyama 2005:15770072}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181896" "1" "11" "15" "75038220" "75038220" "subst" "0" "00008" "CYP1A2_000001" "g.75038220G>A" "" "{PMID:Nakajima 1999:10101295}" "" "-3860G>A" "" "Germline" "" "rs2069514" "0" "" "" "g.74745879G>A" "" "benign" "" "0000181897" "1" "11" "15" "75038220" "75038220" "subst" "0" "00008" "CYP1A2_000001" "g.75038220G>A" "" "{PMID:Soyama 2005:15770072}" "" "-3860G>A" "" "Germline" "" "rs2069514" "0" "" "" "g.74745879G>A" "" "benign" "" "0000181898" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181899" "1" "11" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "{PMID:Chida 1999:10551315} Japanese patent number 05719026 " "" "-739T>G" "" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "benign" "" "0000181900" "1" "11" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "{PMID:Aklillu 2003:12920202}" "" "-739T>G" "" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "benign" "" "0000181901" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Aklillu 2003:12920202}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181902" "1" "11" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "{PMID:Aklillu 2003:12920202}" "" "-739T>G" "" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "benign" "" "0000181903" "1" "11" "15" "75041351" "75041351" "subst" "0" "00008" "CYP1A2_000012" "g.75041351C>T" "" "{PMID:Aklillu 2003:12920202}" "" "-729C>T" "" "Germline" "" "rs12720461" "0" "" "" "g.74749010C>T" "" "benign" "" "0000181904" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Aklillu 2003:12920202}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181905" "1" "11" "15" "75041917" "75041917" "subst" "0" "00008" "CYP1A2_000002" "g.75041917C>A" "" "{PMID:Soyama 2005:15770072}" "" "-163C>A" "" "Germline" "" "rs762551" "0" "" "" "g.74749576C>A" "" "benign" "" "0000181906" "1" "11" "15" "75039613" "75039613" "del" "0" "00008" "CYP1A2_000008" "g.75039613del" "" "{PMID:Soyama 2005:15770072}" "" "-2467delT" "" "Germline" "" "rs35694136" "0" "" "" "g.74747272del" "" "benign" "" "0000181907" "1" "11" "15" "75041341" "75041341" "subst" "0" "00008" "CYP1A2_000010" "g.75041341T>G" "" "{PMID:Chevalier 2001:11295848}" "" "-739T>G" "" "Germline" "" "rs2069526" "0" "" "" "g.74749000T>G" "" "benign" "" "0000181908" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Chevalier 2001:11295848}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181909" "1" "11" "15" "75042204" "75042204" "subst" "0" "00008" "CYP1A2_000016" "g.75042204C>G" "" "{PMID:Soyama 2005:15770072}{PMID:Saito 2005:16174806}" "" "125C>G (P42R)" "" "Germline" "" "rs72547511" "0" "" "" "g.74749863C>G" "" "benign" "" "0000181910" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}{PMID:Saito 2005:16174806}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181911" "1" "11" "15" "75043593" "75043593" "subst" "0.00136866" "00008" "CYP1A2_000023" "g.75043593G>A" "" "{PMID:Murayama 2004:14563787}" "" "1514G>A (G299S)" "" "Germline" "" "rs35796837" "0" "" "" "g.74751252G>A" "" "benign" "" "0000181912" "1" "11" "15" "75047284" "75047284" "subst" "0" "00008" "CYP1A2_000044" "g.75047284A>C" "" "{PMID:Chevalier 2001:11295848}" "" "2025A>C" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000181913" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Chevalier 2001:11295848}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181914" "1" "11" "15" "75044195" "75044195" "subst" "0.000166809" "00008" "CYP1A2_000026" "g.75044195G>A" "" "{PMID:Zhou et 2004:14725854}{PMID:Chevalier 2001:11295848}" "" "2116G>A (D348N)" "" "Germline" "" "rs56276455" "0" "" "" "g.74751854G>A" "" "benign" "" "0000181915" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Zhou et 2004:14725854}{PMID:Chevalier 2001:11295848}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181916" "1" "11" "15" "75044552" "75044552" "subst" "0" "00008" "CYP1A2_000029" "g.75044552G>A" "" "{PMID:Soyama 2005:15770072}{PMID:Saito 2005:16174806}" "" "2473G>A (R377Q)" "" "Germline" "" "rs72547515" "0" "" "" "g.74752211G>A" "" "benign" "" "0000181917" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}{PMID:Saito 2005:16174806}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181918" "1" "11" "15" "75042327" "75042327" "subst" "0.000130061" "00008" "CYP1A2_000017" "g.75042327C>T" "" "{PMID:Murayama 2004:14563787}" "" "248C>T (T83M)" "" "Germline" "" "rs138652540" "0" "" "" "g.74749986C>T" "" "benign" "" "0000181919" "1" "11" "15" "75044578" "75044578" "subst" "0.0013169" "00008" "CYP1A2_000030" "g.75044578A>G" "" "{PMID:Zhou et 2004:14725854}{PMID:Chevalier 2001:11295848}" "" "2499A>T (I386F)" "" "Germline" "" "rs72547516" "0" "" "" "g.74752237A>G" "" "benign" "" "0000181920" "1" "11" "15" "75045547" "75045547" "subst" "0" "00008" "CYP1A2_000035" "g.75045547A>C" "" "{PMID:Browning 2010:20881513}" "" "3468A>C (N397H)" "" "Germline" "" "" "0" "" "" "g.74753206A>C" "" "benign" "" "0000181921" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Browning 2010:20881513}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181922" "1" "11" "15" "75045575" "75045575" "subst" "8.12183E-6" "00008" "CYP1A2_000036" "g.75045575G>A" "" "{PMID:Chevalier 2001:11295848}" "" "3496G>A (C406Y)" "" "Germline" "" "rs55889066" "0" "" "" "g.74753234G>A" "" "benign" "" "0000181923" "1" "11" "15" "75045612" "75045612" "subst" "0.000223461" "00008" "CYP1A2_000037" "g.75045612G>A" "" "{PMID:Allorge 2003:12919186}" "" "3533G>A (Splicing defect )" "" "Germline" "" "rs56107638" "0" "" "" "g.74753271G>A" "" "benign" "" "0000181924" "1" "11" "15" "75042581" "75042581" "subst" "8.12176E-6" "00008" "CYP1A2_000018" "g.75042581G>C" "" "{PMID:Murayama 2004:14563787}" "" "502G>C (E168Q)" "" "Germline" "" "rs72547512" "0" "" "" "g.74750240G>C" "" "benign" "" "0000181925" "1" "11" "15" "75047169" "75047169" "subst" "0.00117804" "00008" "CYP1A2_000039" "g.75047169C>T" "" "{PMID:Zhou et 2004:14725854}{PMID:Chevalier 2001:11295848}" "" "5090C>T (R431W)" "" "Germline" "" "rs28399424" "0" "" "" "g.74754828C>T" "" "benign" "" "0000181926" "1" "11" "15" "75047184" "75047184" "subst" "0.000166488" "00008" "CYP1A2_000041" "g.75047184G>A" "" "{PMID:Browning 2010:20881513}" "" "5105G>A (D436N)" "" "Germline" "" "rs144148965" "0" "" "" "g.74754843G>A" "" "benign" "" "0000181927" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Browning 2010:20881513}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181928" "1" "11" "15" "75047191" "75047191" "subst" "0.00168923" "00008" "CYP1A2_000042" "g.75047191C>T" "" "{PMID:Murayama 2004:14563787}" "" "5112C>T (T438I)" "" "Germline" "" "rs45486893" "0" "" "" "g.74754850C>T" "" "benign" "" "0000181929" "1" "11" "15" "75047245" "75047245" "subst" "3.24844E-5" "00008" "CYP1A2_000043" "g.75047245G>A" "" "{PMID:Soyama 2005:15770072}{PMID:Saito 2005:16174806}" "" "5166G>A (R456H)" "" "Germline" "" "rs72547517" "0" "" "" "g.74754904G>A" "" "benign" "" "0000181930" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}{PMID:Saito 2005:16174806}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181931" "1" "11" "15" "75047407" "75047407" "subst" "8.19639E-6" "00008" "CYP1A2_000047" "g.75047407G>A" "" "{PMID:Browning 2010:20881513}" "" "5328G>A (R510Q)" "" "Germline" "" "" "0" "" "" "g.74755066G>A" "" "benign" "" "0000181932" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Browning 2010:20881513}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181933" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Welfare 1999:10471069}{PMID:Nakajima 1999:10101295}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000181934" "1" "11" "15" "75042637" "75042637" "subst" "0" "00008" "CYP1A2_000019" "g.75042637C>A" "" "{PMID:Murayama 2004:14563787}" "" "558C>A (F186L)" "" "Germline" "" "rs72547513" "0" "" "" "g.74750296C>A" "" "benign" "" "0000181935" "1" "11" "15" "75042713" "75042713" "subst" "2.03028E-5" "00008" "CYP1A2_000020" "g.75042713A>T" "" "{PMID:Murayama 2004:14563787}" "" "634A>T (S212C)" "" "Germline" "" "" "0" "" "" "g.74750372A>T" "" "benign" "" "0000181936" "1" "11" "15" "75042142" "75042142" "subst" "0.000161369" "00008" "CYP1A2_000015" "g.75042142C>G" "" "{PMID:Huang 1999:9884316}" "" "63C>G (F21L)" "" "Germline" "" "rs56160784" "0" "" "" "g.74749801C>G" "" "benign" "" "0000181937" "1" "11" "15" "75042757" "75042757" "subst" "0" "00008" "CYP1A2_000021" "g.75042757C>T" "" "{PMID:Soyama 2005:15770072}" "" "678C>T" "" "Germline" "" "" "0" "" "" "g.74750416C>T" "" "benign" "" "0000181938" "1" "11" "15" "75047426" "75047426" "subst" "0" "00008" "CYP1A2_000048" "g.75047426C=" "" "{PMID:Soyama 2005:15770072}" "" "5347T>C" "" "Germline" "" "rs2470890" "0" "" "" "" "" "benign" "" "0000324209" "0" "50" "15" "75042110" "75042110" "del" "0" "01804" "CYP1A2_000050" "g.75042110del" "" "" "" "CYP1A2(NM_000761.3):c.30del (p.(Ala11ProfsTer21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74749769del" "" "VUS" "" "0000324210" "0" "50" "15" "75044578" "75044578" "subst" "0.0013169" "01804" "CYP1A2_000030" "g.75044578A>G" "" "" "" "CYP1A2(NM_000761.3):c.1156A>G (p.(Ile386Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74752237A>G" "" "VUS" "" "0000578058" "0" "50" "15" "75042895" "75042895" "subst" "0.00011488" "01474" "CYP1A2_000051" "g.75042895T>A" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs140421378" "0" "" "" "g.74750554T>A" "" "VUS" "" "0000578084" "0" "50" "15" "75042895" "75042895" "subst" "0.00011488" "01474" "CYP1A2_000051" "g.75042895T>A" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs140421378" "0" "" "" "g.74750554T>A" "" "VUS" "" "0000578101" "0" "50" "15" "75042895" "75042895" "subst" "0.00011488" "01474" "CYP1A2_000051" "g.75042895T>A" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs140421378" "0" "" "" "g.74750554T>A" "" "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 CYP1A2 ## Count = 195 "{{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}}" "0000172294" "00005991" "99" "-3028" "0" "-3028" "0" "c.-3028G>A" "r.(=)" "p.(=)" "_1" "CYP1A2*1C" "0000172295" "00005991" "99" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(?)" "p.(=)" "1i" "CYP1A2*1F" "0000181751" "00005991" "11" "502" "0" "502" "0" "c.502G>C" "r.(?)" "p.(Glu168Gln)" "2" "CYP1A2*10" "0000181752" "00005991" "99" "558" "0" "558" "0" "c.558C>A" "r.(?)" "p.(Phe186Leu)" "2" "CYP1A2*11" "0000181753" "00005991" "11" "634" "0" "634" "0" "c.634A>T" "r.(?)" "p.(Ser212Cys)" "2" "CYP1A2*12" "0000181754" "00005991" "11" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Gly299Ser)" "3" "CYP1A2*13" "0000181755" "00005991" "11" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Thr438Ile)" "7" "CYP1A2*14" "0000181756" "00005991" "99" "125" "0" "125" "0" "c.125C>G" "r.(?)" "p.(Pro42Arg)" "2" "CYP1A2*15" "0000181757" "00005991" "99" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*15" "0000181758" "00005991" "99" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "5" "CYP1A2*16" "0000181759" "00005991" "99" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*16" "0000181760" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*17" "0000181761" "00005991" "11" "1042" "43" "1042" "43" "c.1042+43G>A" "r.(=)" "p.(=)" "4i" "CYP1A2*17" "0000181762" "00005991" "11" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Thr395Met)" "6" "CYP1A2*17" "0000181763" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*17" "0000181764" "00005991" "11" "1189" "0" "1189" "0" "c.1189A>C" "r.(?)" "p.(Asn397His)" "6" "CYP1A2*18" "0000181765" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*18" "0000181766" "00005991" "11" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "7" "CYP1A2*19" "0000181767" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*19" "0000181768" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1B" "0000181769" "00005991" "99" "-3028" "0" "-3028" "0" "c.-3028G>A" "r.(=)" "p.(=)" "1" "CYP1A2*1C" "0000181770" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1D" "0000181771" "00005991" "11" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1E" "0000181772" "00005991" "99" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1F" "0000181773" "00005991" "11" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1G" "0000181774" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1G" "0000181775" "00005991" "11" "1406" "0" "1406" "0" "c.1406?" "r.(?)" "p.(?)" "7" "CYP1A2*1H" "0000181776" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1H" "0000181777" "00005991" "11" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1J" "0000181778" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1J" "0000181779" "00005991" "99" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1K" "0000181780" "00005991" "99" "-10" "113" "-10" "113" "c.-10+113C>T" "r.(=)" "p.(=)" "1i" "CYP1A2*1K" "0000181781" "00005991" "99" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1K" "0000181782" "00005991" "11" "-3028" "0" "-3028" "0" "c.-3028G>A" "r.(=)" "p.(=)" "1" "CYP1A2*1L" "0000181783" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1L" "0000181784" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1L" "0000181785" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1L" "0000181786" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1M" "0000181787" "00005991" "11" "1042" "43" "1042" "43" "c.1042+43G>A" "r.(=)" "p.(=)" "4i" "CYP1A2*1M" "0000181788" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1N" "0000181789" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1N" "0000181790" "00005991" "11" "-2762" "0" "-2762" "0" "c.-2762T>G" "r.(=)" "p.(=)" "1" "CYP1A2*1N" "0000181791" "00005991" "11" "1042" "205" "1042" "205" "c.1042+205G>C" "r.(=)" "p.(=)" "4i" "CYP1A2*1N" "0000181792" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1N" "0000181793" "00005991" "11" "1722" "0" "1722" "0" "c.1722A>G" "r.(=)" "p.(=)" "7" "CYP1A2*1N" "0000181794" "00005991" "11" "-10" "109" "-10" "109" "c.-10+109G>C" "r.(=)" "p.(=)" "1i" "CYP1A2*1P" "0000181795" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1P" "0000181796" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1P" "0000181797" "00005991" "11" "-2762" "0" "-2762" "0" "c.-2762T>G" "r.(=)" "p.(=)" "1" "CYP1A2*1P" "0000181798" "00005991" "11" "1042" "205" "1042" "205" "c.1042+205G>C" "r.(=)" "p.(=)" "4i" "CYP1A2*1P" "0000181799" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1P" "0000181800" "00005991" "11" "1722" "0" "1722" "0" "c.1722A>G" "r.(=)" "p.(=)" "7" "CYP1A2*1P" "0000181801" "00005991" "11" "-1976" "0" "-1976" "0" "c.-1976A>C" "r.(=)" "p.(=)" "1" "CYP1A2*1Q" "0000181802" "00005991" "11" "1042" "43" "1042" "43" "c.1042+43G>A" "r.(=)" "p.(=)" "4i" "CYP1A2*1Q" "0000181803" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1Q" "0000181804" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1R" "0000181805" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1R" "0000181806" "00005991" "11" "-9" "-358" "-9" "-358" "c.-9-358C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1R" "0000181807" "00005991" "11" "-2762" "0" "-2762" "0" "c.-2762T>G" "r.(=)" "p.(=)" "1" "CYP1A2*1R" "0000181808" "00005991" "11" "1042" "205" "1042" "205" "c.1042+205G>C" "r.(=)" "p.(=)" "4i" "CYP1A2*1R" "0000181809" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1R" "0000181810" "00005991" "11" "1722" "0" "1722" "0" "c.1722A>G" "r.(=)" "p.(=)" "7" "CYP1A2*1R" "0000181811" "00005991" "11" "-2221" "0" "-2221" "0" "c.-2221A>G" "r.(=)" "p.(=)" "1" "CYP1A2*1S" "0000181812" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1S" "0000181813" "00005991" "11" "-1835" "0" "-1835" "0" "c.-1835T>G" "r.(=)" "p.(=)" "1" "CYP1A2*1T" "0000181814" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1T" "0000181815" "00005991" "11" "678" "0" "678" "0" "c.678C>T" "r.(=)" "p.(=)" "2" "CYP1A2*1U" "0000181816" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1U" "0000181817" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1V" "0000181818" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1V" "0000181819" "00005991" "11" "-2281" "0" "-2281" "0" "c.-2281A>G" "r.(?)" "p.(?)" "1" "CYP1A2*1W" "0000181820" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1W" "0000181821" "00005991" "11" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1W" "0000181822" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1W" "0000181823" "00005991" "11" "63" "0" "63" "0" "c.63C>G" "r.(?)" "p.(Phe21Leu)" "2" "CYP1A2*2" "0000181824" "00005991" "11" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Asp436Asn)" "7" "CYP1A2*20" "0000181825" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*20" "0000181826" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*21" "0000181827" "00005991" "11" "894" "0" "894" "0" "c.894C>A" "r.(?)" "p.(Ser298Arg)" "3" "CYP1A2*21" "0000181828" "00005991" "11" "1485" "0" "1485" "0" "c.1485C>A" "r.(?)" "p.(Tyr495*)" "7" "CYP1A2*21" "0000181829" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*21" "0000181830" "00005991" "99" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Asp348Asn)" "4" "CYP1A2*3" "0000181831" "00005991" "99" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*3" "0000181832" "00005991" "99" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Ile386Val)" "5" "CYP1A2*4" "0000181833" "00005991" "11" "1217" "0" "1217" "0" "c.1217G>A" "r.(?)" "p.(Cys406Tyr)" "6" "CYP1A2*5" "0000181834" "00005991" "99" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Trp)" "7" "CYP1A2*6" "0000181835" "00005991" "99" "1253" "1" "1253" "1" "c.1253+1G>A" "r.spl?" "p.?" "6i" "CYP1A2*7" "0000181836" "00005991" "99" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Arg456His)" "7" "CYP1A2*8" "0000181837" "00005991" "99" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*8" "0000181838" "00005991" "11" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Thr83Met)" "2" "CYP1A2*9" "0000181839" "00005991" "11" "-219" "0" "-219" "0" "c.-219T>C" "r.(=)" "p.(=)" "1" "Not determined" "0000181840" "00005991" "11" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Thr324Ile)" "4" "Not determined" "0000181841" "00005991" "11" "1166" "61" "1166" "61" "c.1166+61G>A" "r.(=)" "p.(=)" "5i" "Not determined" "0000181842" "00005991" "11" "1166" "137" "1166" "137" "c.1166+137C>T" "r.(=)" "p.(=)" "5i" "Not determined" "0000181843" "00005991" "11" "1166" "185" "1166" "185" "c.1166+185A>C" "r.(=)" "p.(=)" "5i" "Not determined" "0000181844" "00005991" "11" "1254" "-43" "1254" "-43" "c.1254-43C>T" "r.(=)" "p.(=)" "6i" "Not determined" "0000181845" "00005991" "11" "1722" "0" "1722" "0" "c.1722A>G" "r.(=)" "p.(=)" "7" "Not determined" "0000181846" "00005991" "11" "940" "0" "940" "0" "c.940A>G" "r.(?)" "p.(Ile314Val)" "3" "Not determined" "0000181847" "00005991" "11" "-10" "109" "-10" "109" "c.-10+109G>C" "r.(=)" "p.(=)" "1i" "Not determined" "0000181848" "00005991" "11" "1295" "0" "1295" "0" "c.1295T>C" "r.(?)" "p.(Phe432Ser)" "7" "Not determined" "0000181849" "00005991" "11" "1454" "0" "1454" "0" "c.1454C>G" "r.(?)" "p.(Pro485Arg)" "7" "Not determined" "0000181850" "00005991" "11" "53" "0" "53" "0" "c.53C>G" "r.(?)" "p.(Ser18Cys)" "2" "Not determined" "0000181851" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1F" "0000181852" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*21" "0000181853" "00005991" "11" "894" "0" "894" "0" "c.894C>A" "r.(?)" "p.(Ser298Arg)" "3" "CYP1A2*21" "0000181854" "00005991" "11" "1485" "0" "1485" "0" "c.1485C>A" "r.(?)" "p.(Tyr495*)" "7" "CYP1A2*21" "0000181855" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*21" "0000181856" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1M" "0000181857" "00005991" "11" "1042" "43" "1042" "43" "c.1042+43G>A" "r.(=)" "p.(=)" "4i" "CYP1A2*1M" "0000181858" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1N" "0000181859" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1N" "0000181860" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*17" "0000181861" "00005991" "11" "1042" "43" "1042" "43" "c.1042+43G>A" "r.(=)" "p.(=)" "4i" "CYP1A2*17" "0000181862" "00005991" "11" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Thr395Met)" "6" "CYP1A2*17" "0000181863" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*17" "0000181864" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1D" "0000181865" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1V" "0000181866" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1V" "0000181867" "00005991" "11" "-1835" "0" "-1835" "0" "c.-1835T>G" "r.(=)" "p.(=)" "1" "CYP1A2*1T" "0000181868" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1T" "0000181869" "00005991" "11" "-1976" "0" "-1976" "0" "c.-1976A>C" "r.(=)" "p.(=)" "1" "CYP1A2*1Q" "0000181870" "00005991" "11" "1042" "43" "1042" "43" "c.1042+43G>A" "r.(=)" "p.(=)" "4i" "CYP1A2*1Q" "0000181871" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1R" "0000181872" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1R" "0000181873" "00005991" "11" "-9" "-358" "-9" "-358" "c.-9-358C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1R" "0000181874" "00005991" "11" "-2221" "0" "-2221" "0" "c.-2221A>G" "r.(=)" "p.(=)" "1" "CYP1A2*1S" "0000181875" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1S" "0000181876" "00005991" "11" "-2281" "0" "-2281" "0" "c.-2281A>G" "r.(?)" "p.(?)" "1" "CYP1A2*1W" "0000181877" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1W" "0000181878" "00005991" "11" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1W" "0000181879" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1W" "0000181880" "00005991" "11" "-2762" "0" "-2762" "0" "c.-2762T>G" "r.(=)" "p.(=)" "1" "CYP1A2*1N" "0000181881" "00005991" "11" "1042" "205" "1042" "205" "c.1042+205G>C" "r.(=)" "p.(=)" "4i" "CYP1A2*1N" "0000181882" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1N" "0000181883" "00005991" "11" "1722" "0" "1722" "0" "c.1722A>G" "r.(=)" "p.(=)" "7" "CYP1A2*1N" "0000181884" "00005991" "11" "-10" "109" "-10" "109" "c.-10+109G>C" "r.(=)" "p.(=)" "1i" "CYP1A2*1P" "0000181885" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1P" "0000181886" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1P" "0000181887" "00005991" "11" "-2762" "0" "-2762" "0" "c.-2762T>G" "r.(=)" "p.(=)" "1" "CYP1A2*1R" "0000181888" "00005991" "11" "1042" "205" "1042" "205" "c.1042+205G>C" "r.(=)" "p.(=)" "4i" "CYP1A2*1R" "0000181889" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1R" "0000181890" "00005991" "11" "1722" "0" "1722" "0" "c.1722A>G" "r.(=)" "p.(=)" "7" "CYP1A2*1R" "0000181891" "00005991" "11" "-2762" "0" "-2762" "0" "c.-2762T>G" "r.(=)" "p.(=)" "1" "CYP1A2*1P" "0000181892" "00005991" "11" "1042" "205" "1042" "205" "c.1042+205G>C" "r.(=)" "p.(=)" "4i" "CYP1A2*1P" "0000181893" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1P" "0000181894" "00005991" "11" "1722" "0" "1722" "0" "c.1722A>G" "r.(=)" "p.(=)" "7" "CYP1A2*1P" "0000181895" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1Q" "0000181896" "00005991" "11" "-3028" "0" "-3028" "0" "c.-3028G>A" "r.(=)" "p.(=)" "1" "CYP1A2*1C" "0000181897" "00005991" "11" "-3028" "0" "-3028" "0" "c.-3028G>A" "r.(=)" "p.(=)" "1" "CYP1A2*1L" "0000181898" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1L" "0000181899" "00005991" "11" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1E" "0000181900" "00005991" "11" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1J" "0000181901" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1J" "0000181902" "00005991" "11" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1K" "0000181903" "00005991" "11" "-10" "113" "-10" "113" "c.-10+113C>T" "r.(=)" "p.(=)" "1i" "CYP1A2*1K" "0000181904" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1K" "0000181905" "00005991" "11" "-9" "-154" "-9" "-154" "c.-9-154C>A" "r.(=)" "p.(=)" "1i" "CYP1A2*1L" "0000181906" "00005991" "11" "-1635" "0" "-1635" "0" "c.-1635del" "r.(=)" "p.(=)" "1" "CYP1A2*1L" "0000181907" "00005991" "11" "-10" "103" "-10" "103" "c.-10+103T>G" "r.(=)" "p.(=)" "1i" "CYP1A2*1G" "0000181908" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1G" "0000181909" "00005991" "11" "125" "0" "125" "0" "c.125C>G" "r.(?)" "p.(Pro42Arg)" "2" "CYP1A2*15" "0000181910" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*15" "0000181911" "00005991" "11" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Gly299Ser)" "3" "CYP1A2*13" "0000181912" "00005991" "11" "1406" "0" "1406" "0" "c.1406?" "r.(?)" "p.(?)" "7" "CYP1A2*1H" "0000181913" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1H" "0000181914" "00005991" "11" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Asp348Asn)" "4" "CYP1A2*3" "0000181915" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*3" "0000181916" "00005991" "11" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "5" "CYP1A2*16" "0000181917" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*16" "0000181918" "00005991" "11" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Thr83Met)" "2" "CYP1A2*9" "0000181919" "00005991" "11" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Ile386Val)" "5" "CYP1A2*4" "0000181920" "00005991" "11" "1189" "0" "1189" "0" "c.1189A>C" "r.(?)" "p.(Asn397His)" "6" "CYP1A2*18" "0000181921" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*18" "0000181922" "00005991" "11" "1217" "0" "1217" "0" "c.1217G>A" "r.(?)" "p.(Cys406Tyr)" "6" "CYP1A2*5" "0000181923" "00005991" "11" "1253" "1" "1253" "1" "c.1253+1G>A" "r.spl?" "p.?" "6i" "CYP1A2*7" "0000181924" "00005991" "11" "502" "0" "502" "0" "c.502G>C" "r.(?)" "p.(Glu168Gln)" "2" "CYP1A2*10" "0000181925" "00005991" "11" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Trp)" "7" "CYP1A2*6" "0000181926" "00005991" "11" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Asp436Asn)" "7" "CYP1A2*20" "0000181927" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*20" "0000181928" "00005991" "11" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Thr438Ile)" "7" "CYP1A2*14" "0000181929" "00005991" "11" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Arg456His)" "7" "CYP1A2*8" "0000181930" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*8" "0000181931" "00005991" "11" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "7" "CYP1A2*19" "0000181932" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*19" "0000181933" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1B" "0000181934" "00005991" "11" "558" "0" "558" "0" "c.558C>A" "r.(?)" "p.(Phe186Leu)" "2" "CYP1A2*11" "0000181935" "00005991" "11" "634" "0" "634" "0" "c.634A>T" "r.(?)" "p.(Ser212Cys)" "2" "CYP1A2*12" "0000181936" "00005991" "11" "63" "0" "63" "0" "c.63C>G" "r.(?)" "p.(Phe21Leu)" "2" "CYP1A2*2" "0000181937" "00005991" "11" "678" "0" "678" "0" "c.678C>T" "r.(=)" "p.(=)" "2" "CYP1A2*1U" "0000181938" "00005991" "11" "1548" "0" "1548" "0" "c.1548C=" "r.(?)" "p.(=)" "7" "CYP1A2*1U" "0000324209" "00005991" "50" "31" "0" "31" "0" "c.31del" "r.(?)" "p.(Ala11ProfsTer21)" "" "" "0000324210" "00005991" "50" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Ile386Val)" "" "" "0000578058" "00005991" "00" "816" "0" "816" "0" "c.816T>A" "r.(?)" "p.(Tyr272*)" "" "" "0000578084" "00005991" "00" "816" "0" "816" "0" "c.816T>A" "r.(?)" "p.(Tyr272*)" "" "" "0000578101" "00005991" "00" "816" "0" "816" "0" "c.816T>A" "r.(?)" "p.(Tyr272*)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 193 "{{screeningid}}" "{{variantid}}" "0000106607" "0000172294" "0000106608" "0000172295" "0000113020" "0000181751" "0000113021" "0000181752" "0000113022" "0000181753" "0000113023" "0000181754" "0000113024" "0000181755" "0000113024" "0000181757" "0000113025" "0000181756" "0000113026" "0000181758" "0000113026" "0000181759" "0000113027" "0000181760" "0000113027" "0000181761" "0000113027" "0000181762" "0000113027" "0000181763" "0000113028" "0000181764" "0000113028" "0000181765" "0000113029" "0000181766" "0000113029" "0000181767" "0000113030" "0000181768" "0000113031" "0000181769" "0000113032" "0000181770" "0000113033" "0000181771" "0000113034" "0000181772" "0000113035" "0000181773" "0000113035" "0000181774" "0000113036" "0000181775" "0000113036" "0000181776" "0000113037" "0000181777" "0000113037" "0000181778" "0000113038" "0000181779" "0000113038" "0000181780" "0000113038" "0000181781" "0000113039" "0000181782" "0000113039" "0000181783" "0000113039" "0000181784" "0000113039" "0000181785" "0000113040" "0000181786" "0000113040" "0000181787" "0000113040" "0000181788" "0000113040" "0000181789" "0000113041" "0000181790" "0000113041" "0000181791" "0000113041" "0000181792" "0000113041" "0000181793" "0000113041" "0000181794" "0000113041" "0000181795" "0000113041" "0000181796" "0000113042" "0000181797" "0000113042" "0000181798" "0000113042" "0000181799" "0000113042" "0000181800" "0000113043" "0000181801" "0000113043" "0000181802" "0000113043" "0000181803" "0000113043" "0000181804" "0000113043" "0000181805" "0000113043" "0000181806" "0000113044" "0000181807" "0000113044" "0000181808" "0000113044" "0000181809" "0000113044" "0000181810" "0000113045" "0000181811" "0000113045" "0000181812" "0000113046" "0000181813" "0000113046" "0000181814" "0000113047" "0000181815" "0000113047" "0000181816" "0000113048" "0000181817" "0000113048" "0000181818" "0000113049" "0000181819" "0000113049" "0000181820" "0000113049" "0000181821" "0000113049" "0000181822" "0000113050" "0000181823" "0000113051" "0000181824" "0000113051" "0000181825" "0000113052" "0000181826" "0000113052" "0000181827" "0000113052" "0000181828" "0000113052" "0000181829" "0000113053" "0000181830" "0000113053" "0000181831" "0000113054" "0000181832" "0000113055" "0000181833" "0000113056" "0000181834" "0000113057" "0000181835" "0000113058" "0000181836" "0000113058" "0000181837" "0000113059" "0000181838" "0000113060" "0000181839" "0000113060" "0000181840" "0000113060" "0000181841" "0000113060" "0000181842" "0000113060" "0000181843" "0000113060" "0000181844" "0000113060" "0000181845" "0000113061" "0000181846" "0000113061" "0000181847" "0000113062" "0000181848" "0000113063" "0000181849" "0000113064" "0000181850" "0000113065" "0000181851" "0000113066" "0000181852" "0000113066" "0000181853" "0000113066" "0000181854" "0000113066" "0000181855" "0000113067" "0000181856" "0000113067" "0000181857" "0000113067" "0000181858" "0000113067" "0000181859" "0000113068" "0000181860" "0000113068" "0000181861" "0000113068" "0000181862" "0000113068" "0000181863" "0000113069" "0000181864" "0000113070" "0000181865" "0000113070" "0000181866" "0000113071" "0000181867" "0000113071" "0000181868" "0000113072" "0000181869" "0000113072" "0000181870" "0000113072" "0000181871" "0000113072" "0000181872" "0000113072" "0000181873" "0000113073" "0000181874" "0000113073" "0000181875" "0000113074" "0000181876" "0000113074" "0000181877" "0000113074" "0000181878" "0000113074" "0000181879" "0000113075" "0000181880" "0000113075" "0000181881" "0000113075" "0000181882" "0000113075" "0000181883" "0000113075" "0000181884" "0000113075" "0000181885" "0000113075" "0000181886" "0000113076" "0000181887" "0000113076" "0000181888" "0000113076" "0000181889" "0000113076" "0000181890" "0000113077" "0000181891" "0000113077" "0000181892" "0000113077" "0000181893" "0000113077" "0000181894" "0000113077" "0000181895" "0000113078" "0000181896" "0000113079" "0000181897" "0000113079" "0000181898" "0000113080" "0000181899" "0000113081" "0000181900" "0000113081" "0000181901" "0000113082" "0000181902" "0000113082" "0000181903" "0000113082" "0000181904" "0000113082" "0000181905" "0000113082" "0000181906" "0000113083" "0000181907" "0000113083" "0000181908" "0000113084" "0000181909" "0000113084" "0000181910" "0000113085" "0000181911" "0000113086" "0000181912" "0000113086" "0000181913" "0000113087" "0000181914" "0000113087" "0000181915" "0000113088" "0000181916" "0000113088" "0000181917" "0000113089" "0000181918" "0000113090" "0000181919" "0000113091" "0000181920" "0000113091" "0000181921" "0000113092" "0000181922" "0000113093" "0000181923" "0000113094" "0000181924" "0000113095" "0000181925" "0000113096" "0000181926" "0000113096" "0000181927" "0000113097" "0000181928" "0000113098" "0000181929" "0000113098" "0000181930" "0000113099" "0000181931" "0000113099" "0000181932" "0000113100" "0000181933" "0000113101" "0000181934" "0000113102" "0000181935" "0000113103" "0000181936" "0000113104" "0000181937" "0000113104" "0000181938" "0000249307" "0000578058" "0000249329" "0000578084" "0000249342" "0000578101"