### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UGT1A1) # 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}}" "UGT1A1" "UDP glucuronosyltransferase 1 family, polypeptide A1" "2" "q37" "unknown" "NG_033238.1" "UD_131124152729" "{PMID:Canu 2013:23403257}" "https://www.LOVD.nl/UGT1A1" "" "1" "12530" "54658" "191740" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/UGT1A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-01 12:32:00" "00000" "2026-01-20 18:57:21" ## 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}}" "00022338" "UGT1A1" "UDP glucuronosyltransferase 1 family, polypeptide A1" "001" "NM_000463.2" "" "NP_000454.1" "" "" "" "-15" "2342" "1602" "234668919" "234681945" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00310" "favism" "favism, susceptibility to" "" "134700" "" "" "X-linked dominant; merged with OMIM 305900" "00006" "2014-01-24 11:35:49" "00006" "2019-08-05 19:51:00" "00878" "Crigler-Najjar I" "Crigler-Najjar syndrome, type I" "AR" "218800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-05-30 21:30:33" "01374" "Gilbert syndrome" "Gilbert syndrome" "AR" "143500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01852" "HBLRTFN" "hyperbilirubinemia, familial transient neonatal (Lucey-Driscoll syndrome (HBLRTFN))" "AR" "237900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02393" "BILIQTL1" "bilirubin, serum level of, quantitative trait locus, type 1" "" "601816" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-05-30 21:32:18" "02604" "Crigler-Najjar II" "Crigler-Najjar syndrome, type II" "AR" "606785" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-05-30 21:30:48" "05120" "anemia" "anemia" "" "" "" "" "" "00006" "2016-01-23 01:57:01" "00006" "2025-09-17 10:06:25" "05669" "thal" "thalassemia" "" "" "" "" "" "00006" "2019-11-01 16:50:16" "00006" "2019-11-25 16:41:23" "05811" "Crigler-Najjar" "Crigler-Najjar syndrome" "AR" "" "" "" "" "00006" "2020-08-13 15:57:11" "00006" "2022-05-30 21:30:16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "UGT1A1" "00878" "UGT1A1" "01374" "UGT1A1" "01852" "UGT1A1" "02393" "UGT1A1" "02604" "UGT1A1" "05811" ## Individuals ## Do not remove or alter this header ## ## Count = 418 "{{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}}" "00292644" "" "" "" "191" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292645" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292646" "" "" "" "40" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292647" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304801" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304802" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306850" "" "" "" "1" "" "03531" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "M" "" "Tunisia" "" "0" "" "" "" "P19" "00306851" "" "" "" "1" "" "03531" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "M" "no" "Tunisia" "" "0" "" "" "" "P13" "00306852" "" "" "" "1" "" "03531" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "F" "yes" "Tunisia" "" "0" "" "" "" "P16" "00307432" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam8PatLP7" "00307433" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam8PatLP27" "00307434" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam8PatLP28" "00307435" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam8PatLP49" "00307436" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam9PatLP74" "00307460" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam34PatLP164" "00308698" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00310611" "" "" "" "1" "" "00006" "{PMID:Haddad 2017:28592168}" "" "M" "" "Tunisia" "" "0" "" "" "" "patient" "00326805" "" "" "" "1" "" "03531" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "M" "" "Tunisia" "" "0" "" "" "" "Fam3P18" "00410939" "" "" "" "1" "" "00006" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "analysis 56 Gilbert syndrome cases" "" "" "Turkey" "" "0" "" "" "" "patient" "00410940" "" "" "" "1" "" "00006" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "analysis 56 Gilbert syndrome cases" "" "" "Turkey" "" "0" "" "" "" "patient" "00410941" "" "" "" "1" "" "00006" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "analysis 56 Gilbert syndrome cases" "" "" "Turkey" "" "0" "" "" "" "patient" "00410942" "" "" "" "11" "" "00006" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "analysis 56 Gilbert syndrome cases" "" "" "Turkey" "" "0" "" "" "" "patients" "00410943" "" "" "" "37" "" "00006" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "analysis 56 Gilbert syndrome cases" "" "" "Turkey" "" "0" "" "" "" "patients" "00410944" "" "" "" "1" "" "00006" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "analysis 56 Gilbert syndrome cases" "" "" "Turkey" "" "0" "" "" "" "patients" "00428676" "" "" "" "4" "" "00006" "{PMID:Maruo 2003:14581810}" "4-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "FamPat395" "00428677" "" "" "00428676" "3" "" "00006" "{PMID:Maruo 2003:14581810}" "affected sister/brother/father" "F;M" "" "China" "" "0" "" "" "" "FamPat23/26/47" "00428681" "" "" "" "1" "" "00006" "{PMID:Rosatelli 1997:9039987}" "" "" "" "Italy" "" "0" "" "" "Sardinia" "PatCR" "00428682" "" "" "" "1" "" "00006" "{PMID:Rosatelli 1997:9039987}" "" "" "" "Italy" "" "0" "" "" "Sardinia" "PatPL" "00428683" "" "" "" "2" "" "00006" "{PMID:Rosatelli 1997:9039987}" "2-generation family, 2 affected sibs" "" "" "Italy" "" "0" "" "" "Sardinia" "PatPE/PA" "00428684" "" "" "" "3" "" "00006" "{PMID:Rosatelli 1997:9039987}" "3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "" "Italy" "" "0" "" "" "Sardinia" "FamPEdPatIII10" "00428685" "" "" "00428684" "2" "" "00006" "nephew/niece" "{PMID:Rosatelli 1997:9039987}" "F;M" "" "Italy" "" "0" "" "" "Sardinia" "FamPEdPatIII6/7" "00428686" "" "" "" "1" "" "00006" "{PMID:Koiwai 1995:8528206}" "" "M" "" "Japan" "" "0" "" "" "" "PatHS" "00428687" "" "" "" "1" "" "00006" "{PMID:Koiwai 1995:8528206}" "" "F" "" "Japan" "" "0" "" "" "" "PatSY" "00428688" "" "" "" "1" "" "00006" "{PMID:Koiwai 1995:8528206}" "" "M" "" "Japan" "" "0" "" "" "" "PatMN" "00428689" "" "" "" "1" "" "00006" "{PMID:Koiwai 1995:8528206}" "" "F" "" "Japan" "" "0" "" "" "" "PatYT" "00428690" "" "" "" "1" "" "00006" "{PMID:Koiwai 1995:8528206}" "" "F" "" "Japan" "" "0" "" "" "" "PatYK" "00428691" "" "" "" "1" "" "00006" "{PMID:Koiwai 1995:8528206}" "" "F" "" "Japan" "" "0" "" "" "" "PatXS" "00428692" "" "" "" "3" "" "00006" "{PMID:Yamamoto 1998:9621515}" "2-generation family, 3 affected sisters" "F" "yes" "Japan" "" "0" "" "" "" "Pat2" "00428693" "" "" "00428692" "1" "" "00006" "{PMID:Yamamoto 1998:9621515}" "sister" "F" "yes" "Japan" "" "0" "" "" "" "FamPat3" "00428694" "" "" "00428692" "1" "" "00006" "{PMID:Yamamoto 1998:9621515}" "sister" "F" "yes" "Japan" "" "0" "" "" "" "FamPat4" "00428695" "" "" "" "1" "" "00006" "{PMID:Yamamoto 1998:9621515}" "" "F" "yes" "Japan" "" "0" "" "" "" "Pat5" "00428696" "" "" "" "1" "" "00006" "{PMID:Yamamoto 1998:9621515}" "" "M" "" "Japan" "" "0" "" "" "" "Pat6" "00428697" "" "" "" "1" "" "00006" "{PMID:Yamamoto 1998:9621515}" "" "M" "" "Japan" "" "0" "" "" "" "Pat7" "00428698" "" "" "" "1" "" "00006" "{PMID:Yamamoto 1998:9621515}" "" "M" "" "Japan" "" "0" "" "" "" "Pat1" "00428701" "" "" "" "1" "" "00006" "{PMID:Gantla 1998:9497253}" "" "" "" "United States" "" "0" "" "" "" "PatA" "00428702" "" "" "" "1" "" "00006" "{PMID:Gantla 1998:9497253}" "" "" "" "United States" "" "0" "" "" "" "PatB" "00428703" "" "" "" "3" "" "00006" "{PMID:Huang 2001:11668224}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Taiwan" "" "0" "" "" "" "family" "00428704" "" "" "00428703" "1" "" "00006" "{PMID:Huang 2001:11668224}" "brother" "M" "" "Taiwan" "" "0" "" "" "" "family" "00428705" "" "" "00428703" "1" "" "00006" "{PMID:Huang 2001:11668224}" "father" "M" "" "Taiwan" "" "0" "" "" "" "family" "00428706" "" "" "" "15" "" "00006" "{PMID:Bosma 1993:8514037}, {PMID:Bosma 1995:7565971}" "4-generation family, 2 affected (brother/sister), unaffected heterozygous carrier parents/relatives" "M" "" "Netherlands" "" "0" "" "" "" "FamPat5" "00428707" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "F" "" "Portugal" "" "0" "" "" "" "PatI" "00428708" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "F" "" "Portugal" "" "0" "" "" "" "PatII" "00428709" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Tunisia" "" "0" "" "" "" "PatIII" "00428710" "" "" "" "2" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 2 affected sisters, unaffected parents" "F" "yes" "Tunisia" "" "0" "" "" "" "PatIV" "00428711" "" "" "" "3" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 3 affected brothers, unaffected parents" "M" "yes" "Turkey" "" "0" "" "" "" "PatV" "00428712" "" "" "" "2" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 2 affected (sister/brother)" "F" "yes" "Italy" "" "0" "" "" "" "PatVIa" "00428713" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "France" "" "0" "" "" "" "PatVII" "00428714" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "France" "" "0" "" "" "" "PatVIII" "00428715" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "M" "" "France" "" "0" "" "" "" "PatIX" "00428716" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "M" "" "France" "" "0" "" "" "" "PatX" "00428717" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "M" "" "France" "" "0" "" "" "" "PatXI" "00428718" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "F" "" "France" "" "0" "" "" "" "PatXII" "00428719" "" "" "" "1" "" "00006" "{PMID:Labrune 1994:7989045}" "2-generation family, 1 affected, unaffected parents" "F" "" "France" "" "0" "" "" "" "PatXIII" "00428720" "" "" "" "1" "" "00006" "{PMID:Aono 1994:7936809}" "" "M" "" "Japan" "" "0" "" "" "" "PatCN" "00428721" "" "" "" "1" "" "00006" "{PMID:Seppen 1994:7989595}" "" "" "" "Netherlands" "" "0" "" "" "" "PatA" "00428722" "" "" "" "1" "" "00006" "{PMID:Seppen 1994:7989595}" "" "" "" "Netherlands" "" "0" "" "" "" "PatB" "00428723" "" "" "" "1" "" "00006" "{PMID:Seppen 1994:7989595}" "" "" "" "Netherlands" "" "0" "" "" "" "PatC" "00428725" "" "" "" "1" "" "00006" "{PMID:Seppen 1994:7989595}" "" "" "" "Netherlands" "" "0" "" "" "" "PatD" "00428726" "" "" "" "1" "" "00006" "{PMID:Seppen 1994:7989595}" "" "" "" "Netherlands" "" "0" "" "" "" "PatE" "00428727" "" "" "" "1" "" "00006" "{PMID:Seppen 1994:7989595}" "" "" "" "Netherlands" "" "0" "" "" "" "PatF" "00428728" "" "" "" "1" "" "00006" "{PMID:Seppen 1994:7989595}" "" "" "" "Netherlands" "" "0" "" "" "" "PatG" "00428729" "" "" "" "1" "" "00006" "{PMID:Seppen 1994:7989595}" "" "" "" "Netherlands" "" "0" "" "" "" "PatH" "00428730" "" "" "" "1" "" "00006" "{PMID:Aono 1995:7715297}" "" "M" "" "Japan" "" "0" "" "" "" "Pat1" "00428731" "" "" "" "1" "" "00006" "{PMID:Aono 1995:7715297}" "" "M" "" "Japan" "" "0" "" "" "" "Pat2" "00428732" "" "" "" "1" "" "00006" "{PMID:Aono 1995:7715297}" "" "F" "" "Japan" "" "0" "" "" "" "Pat3" "00428733" "" "" "" "1" "" "00006" "{PMID:Aono 1995:7715297}" "" "F" "" "Japan" "" "0" "" "" "" "Pat4" "00428734" "" "" "" "1" "" "00006" "{PMID:Aono 1995:7715297}" "" "F" "" "Japan" "" "0" "" "" "" "Pat5" "00428735" "" "" "" "1" "" "00006" "{PMID:Aono 1995:7715297}" "" "F" "" "Japan" "" "0" "" "" "" "Pat6" "00428736" "" "" "" "1" "" "00006" "{PMID:Seppen 1996:8706880}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Netherlands" "" "0" "" "" "" "PatA" "00428737" "" "" "" "1" "" "00006" "{PMID:Seppen 1996:8706880}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Netherlands" "" "0" "" "" "" "PatB" "00428744" "" "" "" "1" "" "00006" "{PMID:Ciotti 1997:9028453}" "" "" "" "El Salvador" "" "0" "" "" "" "PatBG" "00428745" "" "" "" "1" "" "00006" "{PMID:Ciotti 1997:9028453}" "" "" "" "United States" "" "0" "" "" "African-American" "PatGD" "00428746" "" "" "" "1" "" "00006" "{PMID:Ciotti 1997:9028453}" "" "M" "" "Turkey" "" "0" "" "" "" "PatYA" "00428747" "" "" "" "1" "" "00006" "{PMID:Ciotti 1995:7852413}" "" "" "" "United States" "" "0" "" "" "" "PatSS" "00428748" "" "" "" "1" "" "00006" "{PMID:Ciotti 1998:9639672}" "" "F" "" "Italy" "" "0" "" "" "" "PatCF" "00428749" "" "" "" "1" "" "00006" "{PMID:Ciotti 1998:9639672}" "" "" "" "Italy" "" "0" "" "" "" "PatSM" "00428750" "" "" "" "1" "" "00006" "{PMID:Ciotti 1999:9932859}" "" "" "" "United States" "" "0" "" "" "African-American" "PatTS" "00428751" "" "" "" "24" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 71 control individuals" "" "" "" "" "0" "" "" "Europe" "controls" "00428752" "" "" "" "39" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 71 control individuals" "" "" "" "" "0" "" "" "Europe" "controls" "00428753" "" "" "" "8" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 71 control individuals" "" "" "" "" "0" "" "" "Europe" "controls" "00428754" "" "" "" "33" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 47 control individuals" "" "" "" "" "0" "" "" "Asia" "controls" "00428755" "" "" "" "13" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 47 control individuals" "" "" "" "" "0" "" "" "Asia" "controls" "00428756" "" "" "" "1" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 47 control individuals" "" "" "" "" "0" "" "" "Asia" "controls" "00428757" "" "" "" "26" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 101 control individuals" "" "" "" "" "0" "" "" "Africa" "controls" "00428758" "" "" "" "37" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 101 control individuals" "" "" "" "" "0" "" "" "Africa" "controls" "00428759" "" "" "" "19" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 101 control individuals" "" "" "" "" "0" "" "" "Africa" "controls" "00428760" "" "" "" "6" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 101 control individuals" "" "" "" "" "0" "" "" "Africa" "controls" "00428761" "" "" "" "2" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 101 control individuals" "" "" "" "" "0" "" "" "Africa" "controls" "00428762" "" "" "" "4" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 101 control individuals" "" "" "" "" "0" "" "" "Africa" "controls" "00428763" "" "" "" "5" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 101 control individuals" "" "" "" "" "0" "" "" "Africa" "controls" "00428764" "" "" "" "2" "" "00006" "{PMID:Beutler 1998:9653159}" "analysis 101 control individuals" "" "" "" "" "0" "" "" "Africa" "controls" "00428765" "" "" "" "1" "" "00006" "{PMID:Labrune 2002:12402338}, {PMID:Petit 2006:16712705}" "" "F" "" "Morocco" "" "0" "" "" "" "patient;Pat12" "00428766" "" "" "" "1" "" "00006" "{PMID:Chalasani 1997:9178703}" "" "M" "" "United States" "" "0" "" "" "white" "patient" "00428776" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428777" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428778" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428779" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428780" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428781" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428782" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428783" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428784" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428785" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428786" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428787" "" "" "" "1" "" "00006" "{PMID:Kadakol 2000:11013440}" "" "" "" "" "" "0" "" "" "" "" "00428788" "" "" "" "1" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 13 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428789" "" "" "" "1" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 13 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428790" "" "" "" "4" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 13 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428791" "" "" "" "3" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 13 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428792" "" "" "" "4" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 13 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428793" "" "" "" "8" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 25 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428794" "" "" "" "4" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 25 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428795" "" "" "" "5" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 25 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428796" "" "" "" "2" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 25 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428797" "" "" "" "2" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 25 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428798" "" "" "" "14" "" "00006" "{PMID:Sugatani 2002:11906189}" "analysis 25 cases hyperbilirubinemia" "" "" "Japan" "" "0" "" "" "" "" "00428799" "" "" "" "1" "" "00006" "{PMID:Sappal 2002:11855932}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "patient" "00429466" "" "" "" "2" "" "00006" "{PMID:Sutomo 2002:12139570}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Thailand" "" "0" "" "" "" "patient" "00429467" "" "" "" "3" "" "00006" "{PMID:Sutomo 2002:12139570}" "analysis 110 controls" "" "" "Japan" "" "0" "" "" "" "controls" "00429468" "" "" "" "1" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429470" "" "" "" "1" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429471" "" "" "" "1" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429472" "" "" "" "1" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429473" "" "" "" "2" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429474" "" "" "" "2" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429475" "" "" "" "13" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429476" "" "" "" "4" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429477" "" "" "" "7" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429478" "" "" "" "62" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00429479" "" "" "" "53" "" "00006" "{PMID:Huang 2000:10975608}" "analysis 290 healthy controls" "" "" "Taiwan" "" "0" "" "" "" "control" "00430151" "" "" "" "110" "" "00006" "{PMID:Costa 2006:16269258}" "analysis 110 cases Gilbert syndrome" "" "" "Portugal" "" "0" "" "" "" "" "00430152" "" "" "" "4" "" "00006" "{PMID:Costa 2006:16269258}" "analysis 110 cases Gilbert syndrome" "" "" "Portugal" "" "0" "" "" "" "" "00430153" "" "" "" "1" "" "00006" "{PMID:Costa 2006:16269258}" "analysis 110 cases Gilbert syndrome" "" "" "Portugal" "" "0" "" "" "" "" "00430154" "" "" "" "1" "" "00006" "{PMID:Costa 2006:16269258}" "analysis 110 cases Gilbert syndrome" "" "" "Portugal" "" "0" "" "" "" "" "00430155" "" "" "" "1" "" "00006" "{PMID:Costa 2006:16269258}" "analysis 110 cases Gilbert syndrome" "" "" "Portugal" "" "0" "" "" "" "" "00430156" "" "" "" "3" "" "00006" "{PMID:Costa 2006:16269258}" "analysis 110 cases Gilbert syndrome" "" "" "Portugal" "" "0" "" "" "" "" "00430157" "" "" "" "1" "" "00006" "{PMID:Costa 2006:16269258}" "" "" "" "Portugal" "" "0" "" "" "" "" "00430158" "" "" "" "1" "" "00006" "{PMID:Costa 2006:16269258}" "" "" "" "Portugal" "" "0" "" "" "" "control" "00430160" "" "" "" "6" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430161" "" "" "" "2" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430162" "" "" "" "15" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430163" "" "" "" "9" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430164" "" "" "" "2" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430165" "" "" "" "1" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430166" "" "" "" "7" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430167" "" "" "" "1" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430168" "" "" "" "2" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430169" "" "" "" "3" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430170" "" "" "" "3" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430171" "" "" "" "76" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430172" "" "" "" "1" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430173" "" "" "" "95" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430174" "" "" "" "1" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 95 cases Gilbert syndrome" "" "" "India" "" "0" "" "" "" "" "00430177" "" "" "" "10" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 96 controls" "" "" "India" "" "0" "" "" "" "" "00430178" "" "" "" "53" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 96 controls" "" "" "India" "" "0" "" "" "" "" "00430179" "" "" "" "5" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 96 controls" "" "" "India" "" "0" "" "" "" "" "00430180" "" "" "" "1" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 96 controls" "" "" "India" "" "0" "" "" "" "" "00430181" "" "" "" "66" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 96 controls" "" "" "India" "" "0" "" "" "" "" "00430182" "" "" "" "29" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 96 controls" "" "" "India" "" "0" "" "" "" "" "00430183" "" "" "" "6" "" "00006" "{PMID:Farheen 2006:16610035}" "analysis 96 controls" "" "" "India" "" "0" "" "" "" "" "00430184" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430185" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430186" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430187" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430188" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430189" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430190" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430191" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430192" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430193" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430194" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430195" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430196" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430197" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430198" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430199" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430200" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430201" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430202" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430203" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430204" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430205" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430207" "" "" "" "1" "" "00006" "{PMID:Sai 2004:15179405}" "analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers)" "" "" "Japan" "" "0" "" "" "" "" "00430209" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "African American" "Hap-I" "00430210" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "white" "Hap-I" "00430211" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "African American" "Hap-III" "00430212" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "white" "Hap-III" "00430213" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "African American" "Hap-IV" "00430214" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "African American" "Hap-V" "00430215" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "African American" "Hap-VI" "00430216" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "white" "Hap-VI" "00430217" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "African American" "Hap-VII" "00430218" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "white" "Hap-VII" "00430219" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "African American" "Hap-VIII" "00430220" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "African American" "Hap-IX" "00430221" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "African American" "Hap-X" "00430222" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "white" "Hap-IX" "00430223" "" "" "" "1" "" "00006" "{PMID:Innocenti 2002:12464801}" "haplotype analysis UGT1A1 promoter 83 control individuals" "" "" "United States" "" "0" "" "" "white" "Hap-X" "00430230" "" "" "" "1" "" "00006" "{PMID:Ritter 1993:8226884}" "" "" "" "United States" "" "0" "" "" "" "PatGR" "00430231" "" "" "" "1" "" "00006" "{PMID:Iolascon 2000:11182932}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Italy" "" "0" "" "" "" "patient" "00430232" "" "" "" "1" "" "00006" "{PMID:Ritter 1992:1634606}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "United States" "" "0" "" "" "" "FamPatJB" "00430233" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-1" "00430234" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "yes" "Italy" "" "0" "" "" "" "PatCN1-2" "00430235" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-3" "00430236" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "yes" "Italy" "" "0" "" "" "" "PatCN1-4" "00430237" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-5" "00430238" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-6" "00430239" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-7" "00430240" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-8" "00430241" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-9" "00430242" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-10" "00430243" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-11" "00430244" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "yes" "Italy" "" "0" "" "" "" "PatCN1-12" "00430245" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-13" "00430246" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-14" "00430247" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN1-15" "00430248" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-1" "00430249" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-2" "00430250" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-3" "00430251" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-4" "00430252" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-5" "00430253" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-6" "00430254" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-7" "00430255" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-8" "00430256" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-9" "00430257" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-10" "00430258" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-11" "00430259" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-12" "00430260" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-13" "00430261" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-14" "00430262" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-15" "00430263" "" "" "" "1" "" "00006" "{PMID:Servedio 2005:15712364}" "" "" "no" "Italy" "" "0" "" "" "" "PatCN2-16" "00430275" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "France" "" "0" "" "" "" "Pat1" "00430276" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "France" "" "0" "" "" "" "Pat2" "00430277" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "France" "" "0" "" "" "" "Pat3" "00430278" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "France" "" "0" "" "" "" "Pat4" "00430279" "" "" "" "2" "" "00006" "{PMID:Petit 2006:16712705}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "FamPat5a" "00430280" "" "" "00430279" "1" "" "00006" "{PMID:Petit 2006:16712705}" "sib" "" "" "France" "" "0" "" "" "" "FamPat5b" "00430281" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "France" "" "0" "" "" "" "Pat6" "00430282" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "Portugal" "" "0" "" "" "" "Pat7" "00430283" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "Tunisia" "" "0" "" "" "" "Pat8" "00430284" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "Turkey" "" "0" "" "" "" "Pat9" "00430285" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "Tunisia" "" "0" "" "" "" "Pat10" "00430286" "" "" "" "1" "" "00006" "{PMID:Petit 2006:16712705}" "" "" "" "Tunisia" "" "0" "" "" "" "Pat11" "00430287" "" "" "" "1" "" "00006" "{PMID:Costa 2006:16269258}" "analysis 110 cases Gilbert syndrome" "" "" "Portugal" "" "0" "" "" "" "" "00430288" "" "" "" "1" "" "00006" "{PMID:Bosma 1992:1634050}" "" "" "" "United States" "" "0" "" "" "" "Pat1" "00430289" "" "" "" "1" "" "00006" "{PMID:Bosma 1992:1634050}" "" "" "" "United States" "" "0" "" "" "" "Pat2" "00430333" "" "" "" "1" "" "00006" "{PMID:Erps 1994:7906695}" "" "" "" "" "" "0" "" "" "" "PatNM" "00430334" "" "" "" "1" "" "00006" "{PMID:Bosma 1992:1568736}" "" "" "" "" "" "0" "" "" "" "patient" "00430335" "" "" "" "1" "" "00006" "{PMID:Aono 1993:8280139}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Japan" "" "0" "" "" "" "patient" "00430336" "" "" "" "1" "" "00006" "{PMID:Moghrabi 1993:8276413}" "" "" "" "Ireland" "" "0" "" "" "" "patient" "00430337" "" "" "" "1" "" "00006" "{PMID:Moghrabi 1993:8102509}" "" "" "yes" "Scotland" "" "0" "" "" "Pakistan" "PatZL" "00430338" "" "" "" "1" "" "00006" "{PMID:Erps 1994:7906695}" "" "" "" "" "" "0" "" "" "" "PatML" "00430339" "" "" "00428706" "6" "" "00006" "{PMID:Bosma 1995:7565971}" "6 relatives with increased bilurubin levels" "" "" "Netherlands" "" "0" "" "" "" "FamPats" "00430340" "" "" "00428706" "4" "" "00006" "{PMID:Bosma 1995:7565971}" "4 heterozygous relatives" "" "" "Netherlands" "" "0" "" "" "" "FamPats" "00430341" "" "" "00428706" "3" "" "00006" "{PMID:Bosma 1995:7565971}" "3 relatives with promoter variant" "" "" "Netherlands" "" "0" "" "" "" "FamPats" "00430342" "" "" "" "10" "" "00006" "{PMID:Bosma 1995:7565971}" "analysis 10 cases Gilbert syndrome" "" "" "Netherlands" "" "0" "" "" "" "patients" "00430343" "" "" "" "8" "" "00006" "{PMID:Bosma 1995:7565971}" "analysis 55 control individuals" "" "" "Netherlands" "" "0" "" "" "" "control" "00430344" "" "" "" "28" "" "00006" "{PMID:Bosma 1995:7565971}" "analysis 55 control individuals" "" "" "Netherlands" "" "0" "" "" "" "control" "00430345" "" "" "" "1" "" "00006" "{PMID:Nakagawa 2011:22169899}" "" "F" "" "Japan" "" "0" "" "" "" "patient" "00430346" "" "" "" "1" "" "00006" "{PMID:Yusoff 2006:16210851}" "analysis 55 hyperbilirubinemia cases" "" "" "Malaysia" "" "0" "" "" "" "cases" "00430347" "" "" "" "3" "" "00006" "{PMID:Yusoff 2006:16210851}" "analysis 55 hyperbilirubinemia cases" "" "" "Malaysia" "" "0" "" "" "" "cases" "00430348" "" "" "" "10" "" "00006" "{PMID:Yusoff 2006:16210851}" "analysis 55 hyperbilirubinemia cases" "" "" "Malaysia" "" "0" "" "" "" "cases" "00430349" "" "" "" "4" "" "00006" "{PMID:Yusoff 2006:16210851}" "analysis 55 hyperbilirubinemia cases" "" "" "Malaysia" "" "0" "" "" "" "cases" "00430350" "" "" "" "1" "" "00006" "{PMID:Yusoff 2006:16210851}" "analysis 50 controls" "" "" "Malaysia" "" "0" "" "" "" "controls" "00430351" "" "" "" "6" "" "00006" "{PMID:Yusoff 2006:16210851}" "analysis 50 controls" "" "" "Malaysia" "" "0" "" "" "" "controls" "00430352" "" "" "" "3" "" "00006" "{PMID:Yusoff 2006:16210851}" "analysis 50 controls" "" "" "Malaysia" "" "0" "" "" "" "controls" "00430489" "" "" "" "1" "" "00006" "{PMID:Costa 2008:18846625}" "" "" "" "Portugal" "" "0" "" "" "" "patient" "00430490" "" "" "" "4" "" "00006" "{PMID:Zmetakova 2007:18281749}" "2-generation family, 4 affected, unaffected heterozygous carrier parents/relatives" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "Roma" "family" "00430491" "" "" "" "3" "" "00006" "{PMID:Zmetakova 2007:18281749}" "family, 3 affecteds, proband, cousin and niece" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "family2" "00430492" "" "" "00430491" "1" "" "00006" "{PMID:Zmetakova 2007:18281749}" "son of cousin" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "family2" "00430493" "" "" "00430491" "1" "" "00006" "{PMID:Zmetakova 2007:18281749}" "niece" "F" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "family2" "00430494" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat1" "00430495" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat2" "00430496" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat3" "00430497" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat4" "00430498" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat5" "00430499" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat6" "00430500" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat7" "00430501" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat8" "00430502" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat9" "00430503" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat10" "00430504" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat11" "00430505" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat12" "00430506" "" "" "" "2" "" "00006" "{PMID:Sneitz 2010:19830808}" "2-generation family, 2 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "Pat13" "00430507" "" "" "00430506" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "relative" "F" "" "Netherlands" "" "0" "" "" "" "Pat14" "00430508" "" "" "" "2" "" "00006" "{PMID:Sneitz 2010:19830808}" "2-generation family, 2 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "Pat15" "00430509" "" "" "00430508" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "relative" "M" "" "Netherlands" "" "0" "" "" "" "Pat16" "00430510" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat17" "00430511" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat18" "00430512" "" "" "" "1" "" "00006" "{PMID:Sneitz 2010:19830808}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat19" "00430513" "" "" "" "1" "" "00006" "{PMID:Petit 2008:18698077}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Tunisia" "" "0" "" "" "" "patient" "00430514" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat1" "00430515" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat2" "00430516" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat3" "00430517" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat4" "00430518" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat5" "00430519" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat6" "00430520" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat7" "00430521" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat8" "00430522" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat9" "00430523" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Italy" "" "0" "" "" "" "Pat10" "00430524" "" "" "" "1" "" "00006" "{PMID:D\'Apolito 2007:17229650}" "" "M" "" "Italy" "" "0" "" "" "" "Pat11" "00430525" "" "" "" "1" "" "00006" "{PMID:Kohli 2010:21488310}" "" "" "" "India" "" "0" "" "" "" "patient" "00430526" "" "" "" "1" "" "00006" "{PMID:Wang 2011:22340355}" "" "M" "" "China" "" "0" "" "" "Uigur" "patient" "00430527" "" "" "" "1" "" "00006" "{PMID:Nong 2005:15953334}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00430680" "" "" "" "1" "" "00006" "{PMID:Liu 2012:22710376}" "" "M" "" "China" "" "0" "" "" "" "patient" "00430681" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430682" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430683" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430684" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430685" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430686" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430687" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "Malaysia" "" "00430688" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430689" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430690" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430691" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430692" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430693" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "China" "" "00430694" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430695" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430696" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "Malaysia" "" "00430697" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430698" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430699" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430700" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430701" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430702" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430703" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430704" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430705" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430706" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430707" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "India" "" "00430708" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns, individuals with 2 UGT1A1 variants" "" "" "Singapore" "" "0" "" "" "Malaysia" "" "00430709" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns" "" "" "Singapore" "" "0" "" "" "China" "" "00430710" "" "" "" "1" "" "00006" "{PMID:Zhou 2009:19325249}" "analysis 241 newborns" "" "" "Singapore" "" "0" "" "" "Malaysia" "" "00430723" "" "" "" "1" "" "00006" "{PMID:Passuello 2009:19752526}" "" "F" "" "Germany;Russia" "" "0" "" "" "" "patient" "00430724" "" "" "" "1" "" "00006" "{PMID:Minucci 2013:23099197}" "" "M" "" "Italy" "" "0" "" "" "" "patient" "00430725" "" "" "" "1" "" "00006" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Japan" "" "0" "" "" "" "" "00430726" "" "" "" "1" "" "00006" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Japan" "" "0" "" "" "" "" "00430727" "" "" "" "1" "" "00006" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Japan" "" "0" "" "" "" "" "00430728" "" "" "" "1" "" "00006" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Japan" "" "0" "" "" "" "" "00430729" "" "" "" "21" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG1" "00430730" "" "" "" "4" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG2" "00430731" "" "" "" "2" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG3" "00430732" "" "" "" "11" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG4" "00430733" "" "" "" "1" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG5" "00430734" "" "" "" "3" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG6" "00430735" "" "" "" "6" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG7" "00430736" "" "" "" "2" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG8" "00430737" "" "" "" "3" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG9" "00430738" "" "" "" "2" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG10" "00430739" "" "" "" "1" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG11" "00430740" "" "" "" "1" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 64 Gilbert syndrome cases" "" "" "Japan" "" "0" "" "" "" "PatG12" "00430741" "" "" "" "2" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 71 controls" "" "" "Japan" "" "0" "" "" "" "" "00430742" "" "" "" "10" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 71 controls" "" "" "Japan" "" "0" "" "" "" "" "00430743" "" "" "" "2" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 71 controls" "" "" "Japan" "" "0" "" "" "" "" "00430744" "" "" "" "18" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 71 controls" "" "" "Japan" "" "0" "" "" "" "" "00430745" "" "" "" "3" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 71 controls" "" "" "Japan" "" "0" "" "" "" "" "00430746" "" "" "" "2" "" "00006" "{PMID:Takeuchi 2004:15304120}" "analysis 71 controls" "" "" "Japan" "" "0" "" "" "" "" "00430747" "" "" "" "1" "" "00006" "{PMID:Aggarwal 2010:19953640}" "" "M" "" "India" "" "0" "" "" "" "patient" "00430748" "" "" "" "1" "" "00006" "{PMID:Canu 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"{PMID:Nair 2012:23162302}" "" "F" "yes" "India" "" "0" "" "" "" "patient" "00430776" "" "" "" "1" "" "00006" "{PMID:Huang 2006:17098698}" "" "F" "" "India" "" "0" "" "" "Singapore" "Pat1" "00430777" "" "" "" "1" "" "00006" "{PMID:Huang 2006:17098698}" "" "F" "" "Taiwan" "" "0" "" "" "" "Pat2" "00430778" "" "" "" "1" "" "00006" "{PMID:Maruo 2008:18376249}" "" "F" "" "India" "" "0" "" "" "" "patient" "00430838" "" "" "" "8" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430839" "" "" "" "3" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430840" "" "" "" "8" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430841" "" "" "" "9" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430842" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" 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"02604" "00430749" "05811" "00430750" "01374" "00430751" "01374" "00430752" "01374" "00430753" "01374" "00430754" "01374" "00430755" "01374" "00430756" "00000" "00430757" "00000" "00430758" "00000" "00430759" "00000" "00430760" "01374" "00430761" "01374" "00430762" "01374" "00430763" "01374" "00430764" "00000" "00430765" "00000" "00430766" "00000" "00430767" "00000" "00430768" "00000" "00430775" "05811" "00430776" "02604" "00430776" "05811" "00430777" "05811" "00430778" "05811" "00430838" "00000" "00430839" "00000" "00430840" "00000" "00430841" "00000" "00430842" "00000" "00430843" "00000" "00430844" "00000" "00430845" "00000" "00430889" "00000" "00430890" "00000" "00430891" "00000" "00430892" "00878" "00430892" "05811" "00449752" "01374" "00449753" "02604" "00449754" "01374" "00449755" "01374" "00449756" "01374" "00449757" "01374" "00449758" "01374" "00449759" "01374" "00449760" "01374" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00310, 00878, 01374, 01852, 02393, 02604, 05120, 05669, 05811 ## Count = 237 "{{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}}" "0000232678" "00878" "00306850" "03531" "Unknown" "" "severe unconjugated hyperbilirubinemia, nuclear kernicterus" "" "" "" "" "" "" "" "" "" "" "" "0000232679" "05120" "00306851" "03531" "Familial" "04y" "Anemia, unconjugated hyperbilirubinemia, kernicterus" "" "04y" "" "" "" "" "" "" "" "" "" "0000232680" "01374" "00306852" "03531" "Familial" "17y" "Kernicterus, anemia, unconjugated hyperbilirubinemia" "" "" "" "" "" "" "" "" "" "" "" "0000233146" "05811" "00307432" "00006" "Familial, autosomal recessive" "15y" "unconjugated hyperbilirubinemia but additionally biliary liver cirrhosis" "" "" "" "" "" "" "" "" "" "Crigler-Najjar syndrome" "" "0000233147" "05811" "00307433" "00006" "Familial, autosomal recessive" "5y" "unconjugated hyperbilirubinemia but additionally elevated liver enzymes" "" "" "" "" "" "" "" "" "" "Crigler-Najjar syndrome" "" "0000233148" "05811" "00307434" "00006" "Familial, autosomal recessive" "15y" "unconjugated hyperbilirubinemia but additionally elevated liver enzymes" "" "" "" "" "" "" "" "" "" "Crigler-Najjar syndrome" "" "0000233149" "05811" "00307435" "00006" "Familial, autosomal recessive" "1y" "unconjugated hyperbilirubinemia but additionally elevated liver enzymes" "" "" "" "" "" "" "" "" "" "Crigler-Najjar syndrome" "" "0000233150" "05811" "00307436" "00006" "Familial, autosomal recessive" "5y" "unconjugated hyperbilirubinemia but additionally elevated liver enzymes" "" "" "" "" "" "" "" "" "" "Crigler-Najjar syndrome" "" "0000233174" "00198" "00307460" "00006" "Unknown" "16y" "cholestatic liver disease (low gamma-glutamyltransferase) with unconjugated and conjugated hyperbilirubinemia" "" "" "" "" "" "" "" "" "" "benign recurrent intrahepatic cholestasis, Crigler-Najjar syndrome" "" "0000235901" "05669" "00310611" "00006" "Familial, autosomal recessive" "50y" "see paper; ..., 38y-mild b-thalassemia intermedia, mild anemia, never required blood transfusion or hydroxyurea (HU) therapy" "" "" "" "" "" "" "" "" "" "beta thalassemia" "" "0000303030" "01374" "00410939" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Gilbert syndrome" "" "0000303031" "01374" "00410940" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Gilbert syndrome" "" "0000303032" "01374" "00410941" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Gilbert syndrome" "" "0000303033" "01374" "00410942" "00006" "Unknown" "" "mildly elevated bilirubin levels" "" "" "" "" "" "" "" "" "" "Gilbert syndrome" "" "0000303034" "01374" "00410943" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Gilbert syndrome" "" "0000303035" "01374" "00410944" "00006" "Unknown" "16y" "no complaints and hyperbilirubinemia" "" "" "" "" "" "" "" "" "" "Gilbert syndrome" "" "0000319581" "05811" "00428676" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319582" "01374" "00428677" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "GS" "Gilbert syndrome" "" "0000319586" "05811" "00428681" "00006" "Familial, autosomal recessive" "13y" "see paper; ..." "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319587" "05811" "00428682" "00006" "Familial, autosomal recessive" "08y" "see paper; ..." "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319588" "05811" "00428683" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319589" "05811" "00428684" "00006" "Familial, autosomal recessive" "01y" "see paper; ..." "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319590" "01374" "00428685" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Gilbert syndrome" "" "0000319591" "05811" "00428692" "00006" "Familial, autosomal recessive" "58y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319592" "05811" "00428693" "00006" "Familial, autosomal recessive" "60y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319593" "05811" "00428694" "00006" "Familial, autosomal recessive" "74y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319594" "05811" "00428695" "00006" "Familial, autosomal recessive" "53y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319595" "05811" "00428696" "00006" "Familial, autosomal recessive" "74y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319596" "05811" "00428697" "00006" "Familial, autosomal recessive" "51y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319597" "05811" "00428698" "00006" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319600" "05811" "00428701" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319601" "05811" "00428702" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319602" "05811" "00428703" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., deep hyperbilirubinemia" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319603" "00198" "00428704" "00006" "Familial, autosomal recessive" "" "serum bilirubin concentration slightly elevated" "" "" "" "" "" "" "" "" "" "" "" "0000319604" "05811" "00428706" "00006" "Familial, autosomal recessive" "104" "see paper; ..., jaundice since birth" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319605" "05811" "00428707" "00006" "Familial, autosomal recessive" "" "see paper; ..., cerebellar symptoms, intellectual disability (IQ 80); successful liver transplant" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319606" "05811" "00428708" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319607" "05811" "00428709" "00006" "Familial, autosomal recessive" "" "see paper; ..., cerebellar symptoms, intellectual disability (IQ 80)" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319608" "05811" "00428710" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319609" "05811" "00428711" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319610" "05811" "00428712" "00006" "Familial, autosomal recessive" "" "see paper; ..., dysarthria, seizures" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319611" "05811" "00428713" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319612" "05811" "00428714" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319613" "05811" "00428715" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319614" "05811" "00428716" "00006" "Familial, autosomal recessive" "" "see paper; ..., cerebellar symptoms, intellectual disability (IQ 80)" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319615" "05811" "00428717" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319616" "05811" "00428718" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319617" "05811" "00428719" "00006" "Familial, autosomal recessive" "" "see paper; ..., died, kernicterus" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319618" "05811" "00428720" "00006" "Familial, autosomal recessive" "01y" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319619" "05811" "00428721" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319620" "05811" "00428722" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319621" "05811" "00428723" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319622" "05811" "00428725" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319624" "05811" "00428726" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319625" "05811" "00428727" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319626" "05811" "00428728" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319627" "05811" "00428729" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319628" "01374" "00428730" "00006" "Familial, autosomal dominant" "14y" "see paper" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000319629" "01374" "00428731" "00006" "Familial, autosomal dominant" "21y" "see paper" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000319630" "01374" "00428732" "00006" "Familial, autosomal dominant" "52y" "see paper" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000319631" "01374" "00428733" "00006" "Familial, autosomal dominant" "27y" "see paper" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000319632" "01374" "00428734" "00006" "Familial, autosomal dominant" "50y" "see paper" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000319633" "01374" "00428735" "00006" "Familial, autosomal dominant" "53y" "see paper" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000319634" "05811" "00428736" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319635" "05811" "00428737" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319642" "05811" "00428744" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319643" "05811" "00428745" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319644" "05811" "00428746" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319645" "05811" "00428747" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319646" "05811" "00428748" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319647" "05811" "00428749" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319648" "05811" "00428750" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319649" "05811" "00428765" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319650" "05811" "00428766" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319660" "05811" "00428776" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319661" "05811" "00428777" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319662" "05811" "00428778" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319663" "05811" "00428779" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319664" "05811" "00428780" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319665" "05811" "00428781" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319666" "05811" "00428782" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319667" "05811" "00428783" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319668" "05811" "00428784" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319669" "05811" "00428785" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000319670" "05811" "00428786" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319671" "05811" "00428787" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000319672" "01374" "00428788" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319673" "01374" "00428789" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319674" "01374" "00428790" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319675" "01374" "00428791" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319676" "01374" "00428792" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319677" "01374" "00428793" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319678" "01374" "00428794" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319679" "01374" "00428795" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319680" "01374" "00428796" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319681" "01374" "00428797" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319682" "01374" "00428798" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperbilirubinemia" "" "0000319683" "05811" "00428799" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000320350" "01374" "00429466" "00006" "Familial, autosomal recessive" "" "see paper; ..., prolonged neonatal jaundice, recurrent jaundice afte infancy, parents no symptoms" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321023" "01374" "00430151" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321024" "01374" "00430152" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321025" "01374" "00430153" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321026" "01374" "00430154" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321027" "01374" "00430155" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321028" "01374" "00430156" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321029" "05811" "00430157" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321038" "05811" "00430230" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321039" "05811" "00430231" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321040" "05811" "00430232" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321041" "05811" "00430233" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321042" "05811" "00430234" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321043" "05811" "00430235" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321044" "05811" "00430236" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321045" "05811" "00430237" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321046" "05811" "00430238" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321047" "05811" "00430239" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321048" "05811" "00430240" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321049" "05811" "00430241" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321050" "05811" "00430242" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321051" "05811" "00430243" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321052" "05811" "00430244" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321053" "05811" "00430245" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321054" "05811" "00430246" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321055" "05811" "00430247" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321056" "05811" "00430248" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321057" "05811" "00430249" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321058" "05811" "00430250" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321059" "05811" "00430251" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321060" "05811" "00430252" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321061" "05811" "00430253" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321062" "05811" "00430254" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321063" "05811" "00430255" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321064" "05811" "00430256" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321065" "05811" "00430257" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321066" "05811" "00430258" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321067" "05811" "00430259" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321068" "05811" "00430260" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321069" "05811" "00430261" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321070" "05811" "00430262" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321071" "05811" "00430263" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321083" "05811" "00430275" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321084" "05811" "00430276" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321085" "05811" "00430277" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321086" "05811" "00430278" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321087" "05811" "00430279" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321088" "05811" "00430280" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321089" "05811" "00430281" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321090" "05811" "00430282" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321091" "05811" "00430283" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321092" "05811" "00430284" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321093" "05811" "00430285" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321094" "05811" "00430286" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321095" "01374" "00430287" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321096" "05811" "00430288" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321097" "05811" "00430289" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321146" "05811" "00430333" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321147" "05811" "00430334" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321148" "05811" "00430335" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321149" "05811" "00430336" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321150" "05811" "00430337" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321151" "05811" "00430338" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321152" "01374" "00430342" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321153" "01374" "00430345" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., persistent hyperbilirubinemia" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321291" "05811" "00430489" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321292" "05811" "00430490" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321293" "05811" "00430491" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321294" "05811" "00430492" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321295" "05811" "00430493" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321296" "05811" "00430494" "00006" "Familial, autosomal recessive" "32y" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321297" "05811" "00430495" "00006" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321298" "05811" "00430496" "00006" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321299" "05811" "00430497" "00006" "Familial, autosomal recessive" "20y" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321300" "05811" "00430498" "00006" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321301" "05811" "00430499" "00006" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321302" "05811" "00430500" "00006" "Familial, autosomal recessive" "16y" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321303" "05811" "00430501" "00006" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321304" "05811" "00430502" "00006" "Familial, autosomal recessive" "33y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321305" "05811" "00430503" "00006" "Familial, autosomal recessive" "33y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321306" "05811" "00430504" "00006" "Familial, autosomal recessive" "32y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321307" "05811" "00430505" "00006" "Familial, autosomal recessive" "29y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321308" "05811" "00430506" "00006" "Familial, autosomal recessive" "50y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321309" "05811" "00430507" "00006" "Familial, autosomal recessive" "47y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321310" "05811" "00430508" "00006" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321311" "05811" "00430509" "00006" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321312" "05811" "00430510" "00006" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321313" "05811" "00430511" "00006" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321314" "05811" "00430512" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321315" "05811" "00430513" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321316" "05811" "00430514" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "unconjugated hyperbilirubinemia" "" "0000321317" "05811" "00430515" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "unconjugated hyperbilirubinemia" "" "0000321318" "05811" "00430516" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "unconjugated hyperbilirubinemia" "" "0000321319" "05811" "00430517" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "unconjugated hyperbilirubinemia" "" "0000321320" "05811" "00430518" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "unconjugated hyperbilirubinemia" "" "0000321321" "05811" "00430519" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "unconjugated hyperbilirubinemia" "" "0000321322" "05811" "00430520" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "unconjugated hyperbilirubinemia" "" "0000321323" "05811" "00430521" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "unconjugated hyperbilirubinemia" "" "0000321324" "05811" "00430522" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "unconjugated hyperbilirubinemia" "" "0000321325" "05811" "00430523" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal kernicterus, hyperbilirubinemia due to skull hematoma" "" "" "" "" "" "" "" "" "" "transient hyperbilirubinemia caused by hemolysis" "" "0000321326" "05811" "00430524" "00006" "Familial, autosomal recessive" "" "see paper; ..., increased bilirubin production due to hemolysis, glucose-6-phosphate dehydrogenase" "" "" "" "" "" "" "" "" "G6PD" "transient hyperbilirubinemia caused by hemolysis" "" "0000321327" "05811" "00430526" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321328" "05811" "00430527" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321459" "05811" "00430723" "00006" "Familial, autosomal recessive" "37y" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321460" "05811" "00430724" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neonatal unconjugated hyperbilirubinemia" "" "0000321461" "05811" "00430725" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321462" "05811" "00430726" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321463" "05811" "00430727" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321464" "05811" "00430728" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321465" "01374" "00430729" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321466" "01374" "00430730" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321467" "01374" "00430731" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321468" "01374" "00430732" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321469" "01374" "00430733" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321470" "01374" "00430734" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321471" "01374" "00430735" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321472" "01374" "00430736" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321473" "01374" "00430737" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321474" "01374" "00430738" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321475" "01374" "00430739" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321476" "01374" "00430740" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321477" "05811" "00430747" "00006" "Familial, autosomal recessive" "" "see paper; ..., persistent jaundice" "" "" "" "" "" "" "" "" "CN2" "persistent jaundice" "" "0000321478" "05811" "00430749" "00006" "Familial, autosomal recessive" "" "see paper; ..., prolonged neonatal jaundice, G6PD deficiency" "" "" "" "" "" "" "" "" "CN2" "jaundice" "" "0000321479" "00310" "00430749" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "favism" "G6PD deficienc" "" "0000321480" "01374" "00430750" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321481" "01374" "00430751" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321482" "01374" "00430752" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321483" "01374" "00430753" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321484" "01374" "00430754" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321485" "01374" "00430755" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321486" "01374" "00430760" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321487" "01374" "00430761" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321488" "01374" "00430762" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321489" "01374" "00430763" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Gilbert" "Gilbert syndrome" "" "0000321496" "05811" "00430775" "00006" "Familial, autosomal recessive" "16y" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321497" "05811" "00430776" "00006" "Familial, autosomal recessive" "07y" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321498" "05811" "00430777" "00006" "Familial, autosomal recessive" "21y" "see paper" "" "" "" "" "" "" "" "" "CN2" "Crigler-Najjar syndrome" "" "0000321499" "05811" "00430778" "00006" "Familial, autosomal recessive" "02y" "see paper" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" "0000321500" "05811" "00430892" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CN1" "Crigler-Najjar syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 418 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293812" "00292644" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293813" "00292645" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293814" "00292646" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293815" "00292647" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305930" "00304801" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305931" "00304802" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307987" "00306850" "1" "03531" "03531" "2020-07-21 14:52:49" "00006" "2020-09-11 11:51:24" "PCR;SEQ" "DNA" "" "" "0000307988" "00306851" "1" "03531" "03531" "2020-07-21 16:20:05" "00006" "2020-09-11 11:51:24" "PCR;SEQ" "DNA" "" "" "0000307989" "00306852" "1" "03531" "03531" "2020-07-21 16:39:48" "00006" "2020-09-11 11:51:24" "PCR;SEQ" "DNA" "" "" "0000308571" "00307432" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000308572" "00307433" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000308573" "00307434" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000308574" "00307435" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000308575" "00307436" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000308599" "00307460" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000309843" "00308698" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000311763" "00310611" "1" "00006" "00006" "2020-09-11 11:57:52" "" "" "SEQ" "DNA" "" "" "0000328018" "00326805" "1" "03531" "03531" "2021-01-14 19:40:33" "00006" "2021-01-15 13:44:51" "PCR;SEQ" "DNA" "" "" "0000412204" "00410939" "1" "00006" "00006" "2022-05-30 17:27:59" "" "" "SEQ" "DNA" "" "" "0000412205" "00410940" "1" "00006" "00006" "2022-05-30 17:27:59" "" "" "SEQ" "DNA" "" "" "0000412206" "00410941" "1" "00006" "00006" "2022-05-30 17:27:59" "" "" "SEQ" "DNA" "" "" "0000412207" "00410942" "1" "00006" "00006" "2022-05-30 17:27:59" "" "" "SEQ" "DNA" "" "" "0000412208" "00410943" "1" "00006" "00006" "2022-05-30 17:27:59" "" "" "SEQ" "DNA" "" "" "0000412209" "00410944" "1" "00006" "00006" "2022-05-30 17:27:59" "" "" "SEQ" "DNA" "" "" "0000430089" "00428676" "1" "00006" "00006" "2023-01-06 15:27:35" "" "" "SEQ" "DNA" "" "" "0000430090" "00428677" "1" "00006" "00006" "2023-01-06 15:31:29" "" "" "SEQ" "DNA" "" "" "0000430094" "00428681" "1" "00006" "00006" "2023-01-06 17:03:05" "" "" "SEQ" "DNA" "" "" "0000430095" "00428682" "1" "00006" "00006" "2023-01-06 17:05:50" "" "" "SEQ" "DNA" "" "" "0000430096" "00428683" "1" "00006" "00006" "2023-01-06 17:08:07" "" "" "SEQ" "DNA" "" "" "0000430097" "00428684" "1" "00006" "00006" "2023-01-06 17:22:53" "" "" "SEQ" "DNA" "" "" "0000430098" "00428685" "1" "00006" "00006" "2023-01-06 17:26:44" "" "" "SEQ" "DNA" "" "" "0000430099" "00428686" "1" "00006" "00006" "2023-01-07 09:20:24" "" "" "SEQ" "DNA" "" "" "0000430100" "00428687" "1" "00006" "00006" "2023-01-07 09:20:24" "" "" "SEQ" "DNA" "" "" "0000430101" "00428688" "1" "00006" "00006" "2023-01-07 09:20:24" "" "" "SEQ" "DNA" "" "" "0000430102" "00428689" "1" "00006" "00006" "2023-01-07 09:20:24" "00006" "2023-01-07 09:42:10" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000430103" "00428690" "1" "00006" "00006" "2023-01-07 09:20:24" "" "" "SEQ" "DNA" "" "" "0000430104" "00428691" "1" "00006" "00006" "2023-01-07 09:20:24" "" "" "SEQ" "DNA" "" "" "0000430105" "00428692" "1" "00006" "00006" "2023-01-07 09:49:59" "" "" "SEQ" "DNA" "" "" "0000430106" "00428693" "1" "00006" "00006" "2023-01-07 09:49:59" "" "" "SEQ" "DNA" "" "" "0000430107" "00428694" "1" "00006" "00006" "2023-01-07 09:49:59" "" "" "SEQ" "DNA" "" "" "0000430108" "00428695" "1" "00006" "00006" "2023-01-07 09:49:59" "" "" "SEQ" "DNA" "" "" "0000430109" "00428696" "1" "00006" "00006" "2023-01-07 09:49:59" "" "" "SEQ" "DNA" "" "" "0000430110" "00428697" "1" "00006" "00006" "2023-01-07 09:49:59" "" "" "SEQ" "DNA" "" "" "0000430111" "00428698" "1" "00006" "00006" "2023-01-07 09:49:59" "" "" "SEQ" "DNA" "" "" "0000430114" "00428701" "1" "00006" "00006" "2023-01-08 09:30:35" "00006" "2023-01-08 10:00:28" "SEQ" "DNA" "" "" "0000430115" "00428702" "1" "00006" "00006" "2023-01-08 09:43:54" "00006" "2023-01-08 10:00:06" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000430116" "00428703" "1" "00006" "00006" "2023-01-08 10:08:29" "" "" "SEQ" "DNA" "" "" "0000430117" "00428704" "1" "00006" "00006" "2023-01-08 10:17:19" "" "" "SEQ" "DNA" "" "" "0000430118" "00428705" "1" "00006" "00006" "2023-01-08 10:20:15" "" "" "SEQ" "DNA" "" "" "0000430119" "00428706" "1" "00006" "00006" "2023-01-08 10:28:45" "" "" "SEQ" "DNA" "" "" "0000430120" "00428707" "1" "00006" "00006" "2023-01-08 10:41:53" "" "" "SEQ" "DNA" "" "" "0000430121" "00428708" "1" "00006" "00006" "2023-01-08 10:41:53" "" "" "SEQ" "DNA" "" "" "0000430122" "00428709" "1" "00006" "00006" "2023-01-08 10:41:53" "" "" "SEQ" "DNA" "" "" "0000430123" "00428710" "1" "00006" "00006" "2023-01-08 10:41:53" "" "" "SEQ" "DNA" "" "" "0000430124" "00428711" "1" "00006" "00006" "2023-01-08 10:41:53" "" "" "SEQ" "DNA" "" "" "0000430125" "00428712" "1" "00006" "00006" "2023-01-08 10:41:53" "" "" "SEQ" "DNA" "" "" "0000430126" "00428713" "1" "00006" "00006" "2023-01-08 10:41:53" "" "" "SEQ" "DNA" "" "" "0000430127" "00428714" "1" "00006" "00006" 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"2023-01-10 19:42:38" "" "" "SEQ" "DNA" "" "" "0000430210" "00428797" "1" "00006" "00006" "2023-01-10 19:42:38" "" "" "SEQ" "DNA" "" "" "0000430211" "00428798" "1" "00006" "00006" "2023-01-10 19:42:38" "" "" "SEQ" "DNA" "" "" "0000430212" "00428799" "1" "00006" "00006" "2023-01-10 21:39:06" "00006" "2023-01-11 08:49:28" "SEQ" "DNA" "" "" "0000430879" "00429466" "1" "00006" "00006" "2023-01-11 08:57:59" "" "" "SEQ" "DNA" "" "" "0000430880" "00429467" "1" "00006" "00006" "2023-01-11 09:02:07" "" "" "SEQ" "DNA" "" "" "0000430881" "00429468" "1" "00006" "00006" "2023-01-11 09:09:43" "" "" "SEQ" "DNA" "" "" "0000430883" "00429470" "1" "00006" "00006" "2023-01-11 09:09:43" "" "" "SEQ" "DNA" "" "" "0000430884" "00429471" "1" "00006" "00006" "2023-01-11 09:09:43" "" "" "SEQ" "DNA" "" "" "0000430885" "00429472" "1" "00006" "00006" "2023-01-11 09:09:43" "" "" "SEQ" "DNA" "" "" "0000430886" "00429473" "1" "00006" "00006" "2023-01-11 09:09:43" "" "" "SEQ" "DNA" "" "" "0000430887" "00429474" "1" 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"2023-01-13 17:52:54" "" "" "SEQ" "DNA" "" "" "0000431582" "00430169" "1" "00006" "00006" "2023-01-13 17:52:54" "" "" "SEQ" "DNA" "" "" "0000431583" "00430170" "1" "00006" "00006" "2023-01-13 17:52:54" "" "" "SEQ" "DNA" "" "" "0000431584" "00430171" "1" "00006" "00006" "2023-01-13 17:52:54" "" "" "SEQ" "DNA" "" "" "0000431585" "00430172" "1" "00006" "00006" "2023-01-13 17:52:54" "" "" "SEQ" "DNA" "" "" "0000431586" "00430173" "1" "00006" "00006" "2023-01-13 17:52:54" "" "" "SEQ" "DNA" "" "" "0000431587" "00430174" "1" "00006" "00006" "2023-01-13 17:52:54" "" "" "SEQ" "DNA" "" "" "0000431591" "00430177" "1" "00006" "00006" "2023-01-13 19:42:25" "" "" "SEQ" "DNA" "" "" "0000431592" "00430178" "1" "00006" "00006" "2023-01-13 19:42:25" "" "" "SEQ" "DNA" "" "" "0000431593" "00430179" "1" "00006" "00006" "2023-01-13 19:42:25" "" "" "SEQ" "DNA" "" "" "0000431594" "00430180" "1" "00006" "00006" "2023-01-13 19:42:25" "" "" "SEQ" "DNA" "" "" "0000431595" "00430181" "1" "00006" "00006" "2023-01-13 19:42:25" "" "" "SEQ" "DNA" "" "" "0000431596" "00430182" "1" "00006" "00006" "2023-01-13 19:42:25" "" "" "SEQ" "DNA" "" "" "0000431597" "00430183" "1" "00006" "00006" "2023-01-13 19:42:25" "" "" "SEQ" "DNA" "" "" "0000431598" "00430184" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431599" "00430185" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431600" "00430186" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431601" "00430187" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431602" "00430188" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431603" "00430189" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431604" "00430190" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431605" "00430191" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431606" "00430192" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431607" "00430193" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431608" "00430194" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431609" "00430195" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431610" "00430196" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431611" "00430197" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431612" "00430198" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431613" "00430199" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431614" "00430200" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431615" "00430201" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431616" "00430202" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431617" "00430203" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431618" "00430204" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431619" "00430205" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431621" "00430207" "1" "00006" "00006" "2023-01-14 12:50:32" "" "" "SEQ" "DNA" "" "" "0000431623" "00430209" "1" "00006" "00006" "2023-01-15 10:36:21" "" "" "SEQ" "DNA" "liver" "" "0000431624" "00430210" "1" "00006" "00006" "2023-01-15 10:36:21" "" "" "SEQ" "DNA" "liver" "" "0000431625" "00430211" "1" "00006" "00006" "2023-01-15 10:36:21" "" "" "SEQ" "DNA" "liver" "" "0000431626" "00430212" "1" "00006" "00006" "2023-01-15 10:36:21" "" "" "SEQ" "DNA" "liver" "" "0000431627" "00430213" "1" "00006" "00006" "2023-01-15 10:36:21" "" "" "SEQ" "DNA" "liver" "" "0000431628" "00430214" "1" "00006" "00006" "2023-01-15 10:36:21" "" "" "SEQ" "DNA" "liver" "" "0000431629" "00430215" "1" "00006" "00006" "2023-01-15 10:36:21" "" "" "SEQ" "DNA" "liver" "" "0000431630" 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"DNA" "" "" "0000431658" "00430244" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431659" "00430245" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431660" "00430246" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431661" "00430247" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431662" "00430248" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431663" "00430249" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431664" "00430250" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431665" "00430251" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431666" "00430252" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431667" "00430253" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431668" "00430254" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431669" "00430255" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431670" "00430256" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431671" "00430257" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431672" "00430258" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431673" "00430259" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431674" "00430260" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431675" "00430261" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431676" "00430262" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431677" "00430263" "1" "00006" "00006" "2023-01-16 12:02:10" "" "" "SEQ" "DNA" "" "" "0000431689" "00430275" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431690" "00430276" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431691" "00430277" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431692" "00430278" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431693" "00430279" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431694" "00430280" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431695" "00430281" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431696" "00430282" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431697" "00430283" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431698" "00430284" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431699" "00430285" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431700" "00430286" "1" "00006" "00006" "2023-01-16 17:49:55" "" "" "SEQ" "DNA" "" "" "0000431701" "00430287" "1" "00006" "00006" "2023-01-16 19:54:14" "" "" "SEQ" "DNA" "" "" "0000431702" "00430288" "1" "00006" "00006" "2023-01-16 21:17:33" "" "" "SEQ" "DNA" "" "" "0000431703" "00430289" "1" "00006" "00006" "2023-01-16 21:20:27" "" "" "SEQ" "DNA" "" "" "0000431748" "00430333" "1" "00006" "00006" "2023-01-18 10:47:22" "" "" "SEQ" "DNA" "" "" "0000431749" "00430334" "1" "00006" "00006" "2023-01-18 10:50:00" "" "" "SEQ" "DNA" "" "" "0000431750" "00430335" "1" "00006" "00006" "2023-01-18 10:53:16" "" "" "SEQ" "DNA" "" "" "0000431751" "00430336" "1" "00006" "00006" "2023-01-18 11:03:07" "" "" "SEQ" "DNA" "" "" "0000431752" "00430337" "1" "00006" "00006" "2023-01-18 11:06:15" "" "" "SEQ" "DNA" "" "" "0000431753" "00430338" "1" "00006" "00006" "2023-01-18 11:09:08" "00006" "2023-01-18 11:10:38" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000431754" "00430339" "1" "00006" "00006" "2023-01-18 11:51:25" "" "" "SEQ" "DNA" "" "" "0000431755" "00430340" "1" "00006" "00006" "2023-01-18 12:00:21" "" "" "SEQ" "DNA" "" "" "0000431756" "00430341" "1" "00006" "00006" "2023-01-18 12:04:24" "" "" "SEQ" "DNA" "" "" "0000431757" "00430342" "1" "00006" "00006" "2023-01-18 12:10:14" "" "" "SEQ" "DNA" "" "" "0000431758" "00430343" "1" "00006" "00006" "2023-01-18 12:14:26" "" "" "SEQ" "DNA" "" "" "0000431759" "00430344" "1" "00006" "00006" "2023-01-18 12:17:36" "" "" "SEQ" "DNA" "" "" "0000431760" "00430345" "1" "00006" "00006" "2023-01-18 12:47:52" "" "" "SEQ" "DNA" "" "" "0000431761" "00430346" "1" "00006" "00006" "2023-01-18 12:57:14" "" "" "SEQ" "DNA" "" "" "0000431762" "00430347" "1" "00006" "00006" "2023-01-18 12:57:14" "" "" "SEQ" "DNA" "" "" "0000431763" "00430348" "1" "00006" "00006" "2023-01-18 12:57:14" "" "" "SEQ" "DNA" "" "" "0000431764" "00430349" "1" "00006" "00006" "2023-01-18 12:57:14" "" "" "SEQ" "DNA" "" "" "0000431765" "00430350" "1" "00006" "00006" "2023-01-18 12:57:14" "" "" "SEQ" "DNA" "" "" "0000431766" "00430351" "1" "00006" "00006" "2023-01-18 12:57:14" "" "" "SEQ" "DNA" "" "" "0000431767" "00430352" "1" "00006" "00006" "2023-01-18 12:57:14" "" "" "SEQ" "DNA" "" "" "0000431898" "00430489" "1" "00006" "00006" "2023-01-20 19:18:08" "" "" "SEQ" "DNA" "" "" "0000431899" "00430490" "1" "00006" "00006" "2023-01-20 19:30:59" "" "" "SEQ" "DNA" "" "" "0000431900" "00430491" "1" "00006" "00006" "2023-01-20 19:35:21" "" "" "SEQ" "DNA" "" "" "0000431901" "00430492" "1" "00006" "00006" "2023-01-20 19:41:42" "" "" "SEQ" "DNA" "" "" "0000431902" "00430493" "1" "00006" "00006" "2023-01-20 19:44:14" "" "" "SEQ" "DNA" "" "" "0000431903" "00430494" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431904" "00430495" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431905" "00430496" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431906" "00430497" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431907" "00430498" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431908" "00430499" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431909" "00430500" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431910" "00430501" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431911" "00430502" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431912" "00430503" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431913" "00430504" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431914" "00430505" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431915" "00430506" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431916" "00430507" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431917" "00430508" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431918" "00430509" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431919" "00430510" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431920" "00430511" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431921" "00430512" "1" "00006" "00006" "2023-01-21 12:22:29" "" "" "SEQ" "DNA" "" "" "0000431922" "00430513" "1" "00006" "00006" "2023-01-21 12:34:51" "" "" "PCR;SEQ" "DNA" "" "" "0000431923" "00430514" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431924" "00430515" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431925" "00430516" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431926" "00430517" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431927" "00430518" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431928" "00430519" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431929" "00430520" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431930" "00430521" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431931" "00430522" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431932" "00430523" "1" "00006" "00006" "2023-01-21 15:34:51" "" "" "SEQ" "DNA" "" "" "0000431933" "00430524" "1" "00006" "00006" "2023-01-21 15:34:51" "00006" "2023-01-21 15:56:17" "SEQ" "DNA" "" "" "0000431934" "00430525" "1" "00006" "00006" "2023-01-21 16:06:30" "" "" "SEQ" "DNA" "" "" "0000431935" "00430526" "1" "00006" "00006" "2023-01-21 16:20:02" "" "" "SEQ" "DNA" "" "" "0000431936" "00430527" "1" "00006" "00006" "2023-01-21 16:27:11" "" "" "SEQ" "DNA" "" "" "0000432090" "00430680" "1" "00006" "00006" "2023-01-22 16:10:35" "" "" "SEQ" "DNA" "" "" "0000432091" "00430681" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432092" "00430682" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432093" "00430683" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432094" "00430684" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432095" "00430685" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432096" "00430686" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432097" "00430687" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432098" "00430688" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432099" "00430689" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432100" "00430690" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432101" "00430691" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432102" "00430692" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432103" "00430693" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432104" "00430694" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432105" "00430695" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432106" "00430696" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432107" "00430697" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432108" "00430698" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432109" "00430699" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432110" "00430700" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432111" "00430701" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432112" "00430702" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432113" "00430703" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432114" "00430704" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432115" "00430705" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432116" "00430706" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432117" "00430707" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432118" "00430708" "1" "00006" "00006" "2023-01-22 17:22:50" "" "" "SEQ" "DNA" "" "" "0000432119" "00430709" "1" "00006" "00006" "2023-01-22 17:24:45" "" "" "SEQ" "DNA" "" "" "0000432120" "00430710" "1" "00006" "00006" "2023-01-22 17:28:09" "" "" "SEQ" "DNA" "" "" "0000432134" "00430723" "1" "00006" "00006" "2023-01-23 12:49:14" "" "" "SEQ" "DNA" "" "" "0000432135" "00430724" "1" "00006" "00006" "2023-01-23 13:06:43" "" "" "SEQ" "DNA" "" "" "0000432136" "00430725" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432137" "00430726" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432138" "00430727" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432139" "00430728" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432140" "00430729" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432141" "00430730" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432142" "00430731" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432143" "00430732" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432144" "00430733" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432145" "00430734" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432146" "00430735" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432147" "00430736" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432148" "00430737" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432149" "00430738" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432150" "00430739" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432151" "00430740" "1" "00006" "00006" "2023-01-23 15:56:08" "" "" "SEQ" "DNA" "" "" "0000432152" "00430741" "1" "00006" "00006" "2023-01-23 16:05:16" "" "" "SEQ" "DNA" "" "" "0000432153" "00430742" "1" "00006" "00006" "2023-01-23 16:05:16" "" "" "SEQ" "DNA" "" "" "0000432154" "00430743" "1" "00006" "00006" "2023-01-23 16:05:16" "" "" "SEQ" "DNA" "" "" "0000432155" "00430744" "1" "00006" "00006" "2023-01-23 16:05:16" "" "" "SEQ" "DNA" "" "" "0000432156" "00430745" "1" "00006" "00006" "2023-01-23 16:05:16" "" "" "SEQ" "DNA" "" "" "0000432157" "00430746" "1" "00006" "00006" "2023-01-23 16:05:16" "" "" "SEQ" "DNA" "" "" "0000432158" "00430747" "1" "00006" "00006" "2023-01-23 16:11:10" "" "" "SEQ" "DNA" "" "" "0000432159" "00430748" "1" "00006" "00006" "2023-01-23 16:26:00" "" "" "SEQ" "DNA" "" "" "0000432160" "00430749" "1" "00006" "00006" "2023-01-23 16:40:46" "" "" "SEQ" "DNA" "" "" "0000432161" "00430750" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432162" "00430751" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432163" "00430752" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432164" "00430753" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432165" "00430754" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432166" "00430755" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432167" "00430756" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432168" "00430757" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432169" "00430758" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432170" "00430759" "1" "00006" "00006" "2023-01-23 17:23:05" "" "" "SEQ" "DNA" "" "" "0000432171" "00430760" "1" "00006" "00006" "2023-01-23 17:57:49" "" "" "SEQ" "DNA" "" "" "0000432172" "00430761" "1" "00006" "00006" "2023-01-23 17:57:49" "" "" "SEQ" "DNA" "" "" "0000432173" "00430762" "1" "00006" "00006" "2023-01-23 17:57:49" "" "" "SEQ" "DNA" "" "" "0000432174" "00430763" "1" "00006" "00006" "2023-01-23 17:57:49" "" "" "SEQ" "DNA" "" "" "0000432175" "00430764" "1" "00006" "00006" "2023-01-23 17:57:49" "" "" "SEQ" "DNA" "" "" "0000432176" "00430765" "1" "00006" "00006" "2023-01-23 17:57:49" "" "" "SEQ" "DNA" "" "" "0000432177" "00430766" "1" "00006" "00006" "2023-01-23 17:57:49" "" "" "SEQ" "DNA" "" "" "0000432178" "00430767" "1" "00006" "00006" "2023-01-23 17:57:49" "" "" "SEQ" "DNA" "" "" "0000432179" "00430768" "1" "00006" "00006" "2023-01-23 17:57:49" "" "" "SEQ" "DNA" "" "" "0000432186" "00430775" "1" "00006" "00006" "2023-01-23 21:31:49" "" "" "SEQ" "DNA" "" "" "0000432187" "00430776" "1" "00006" "00006" "2023-01-23 21:38:55" "" "" "SEQ" "DNA" "" "" "0000432188" "00430777" "1" "00006" "00006" "2023-01-23 21:41:53" "" "" "SEQ" "DNA" "" "" "0000432189" "00430778" "1" "00006" "00006" "2023-01-23 21:46:50" "" "" "SEQ" "DNA" "" "" "0000432249" "00430838" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432250" "00430839" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432251" "00430840" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432252" "00430841" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432253" "00430842" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432254" "00430843" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432255" "00430844" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432256" "00430845" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432300" "00430889" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432301" "00430890" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432302" "00430891" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432303" "00430892" "1" "00006" "00006" "2023-01-24 16:01:11" "" "" "SEQ" "DNA" "" "" "0000451348" "00449752" "1" "04686" "04686" "2024-05-11 07:41:51" "" "" "SEQ" "DNA" "" "" "0000451349" "00449753" "1" "04686" "04686" "2024-05-13 04:18:00" "" "" "SEQ" "DNA" "" "" "0000451350" "00449754" "1" "04686" "04686" "2024-05-13 04:27:05" "" "" "SEQ" "DNA" "" "" "0000451351" "00449755" "1" "04686" "04686" "2024-05-13 04:30:55" "" "" "SEQ" "DNA" "" "" "0000451352" "00449756" "1" "04686" "04686" "2024-05-13 04:34:37" "" "" "SEQ" "DNA" "" "" "0000451353" "00449757" "1" "04686" "04686" "2024-05-13 04:37:43" "" "" "SEQ" "DNA" "" "" "0000451354" "00449758" "1" "04686" "04686" "2024-05-13 04:40:52" "" "" "SEQ" "DNA" "" "" "0000451355" "00449759" "1" "04686" "04686" "2024-05-13 04:44:53" "" "" "SEQ" "DNA" "" "" "0000451356" "00449760" "1" "04686" "04686" "2024-05-13 04:48:32" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 406 "{{screeningid}}" "{{geneid}}" "0000307987" "UGT1A1" "0000307988" "UGT1A1" "0000307989" "UGT1A1" "0000308571" "UGT1A1" "0000308572" "UGT1A1" "0000308573" "UGT1A1" "0000308574" "UGT1A1" "0000308575" "UGT1A1" "0000308599" "ATP8B1" "0000308599" "UGT1A1" "0000309843" "UGT1A1" "0000311763" "HBB" "0000311763" "UGT1A1" "0000328018" "PKLR" "0000328018" "UGT1A1" "0000412204" "UGT1A1" "0000412205" "UGT1A1" "0000412206" "UGT1A1" "0000412207" "UGT1A1" "0000412208" "UGT1A1" "0000412209" "UGT1A1" "0000430089" "UGT1A1" "0000430090" "UGT1A1" "0000430094" "UGT1A1" "0000430095" "UGT1A1" "0000430096" "UGT1A1" "0000430097" "UGT1A1" "0000430098" "UGT1A1" "0000430099" "UGT1A1" "0000430100" "UGT1A1" "0000430101" "UGT1A1" "0000430102" "UGT1A1" "0000430103" "UGT1A1" "0000430104" "UGT1A1" "0000430105" "UGT1A1" 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"0000431754" "UGT1A1" "0000431755" "UGT1A1" "0000431756" "UGT1A1" "0000431757" "UGT1A1" "0000431758" "UGT1A1" "0000431759" "UGT1A1" "0000431760" "UGT1A1" "0000431761" "UGT1A1" "0000431762" "UGT1A1" "0000431763" "UGT1A1" "0000431764" "UGT1A1" "0000431765" "UGT1A1" "0000431766" "UGT1A1" "0000431767" "UGT1A1" "0000431898" "UGT1A1" "0000431899" "UGT1A1" "0000431900" "UGT1A1" "0000431901" "UGT1A1" "0000431902" "UGT1A1" "0000431903" "UGT1A1" "0000431904" "UGT1A1" "0000431905" "UGT1A1" "0000431906" "UGT1A1" "0000431907" "UGT1A1" "0000431908" "UGT1A1" "0000431909" "UGT1A1" "0000431910" "UGT1A1" "0000431911" "UGT1A1" "0000431912" "UGT1A1" "0000431913" "UGT1A1" "0000431914" "UGT1A1" "0000431915" "UGT1A1" "0000431916" "UGT1A1" "0000431917" "UGT1A1" "0000431918" "UGT1A1" "0000431919" "UGT1A1" "0000431920" "UGT1A1" "0000431921" "UGT1A1" "0000431922" "UGT1A1" "0000431923" "UGT1A1" "0000431924" "UGT1A1" "0000431925" "UGT1A1" "0000431926" "UGT1A1" "0000431927" "UGT1A1" "0000431928" "UGT1A1" "0000431929" "UGT1A1" "0000431930" "UGT1A1" "0000431931" "UGT1A1" "0000431932" "UGT1A1" "0000431933" "G6PD" "0000431933" "UGT1A1" "0000431934" "UGT1A1" "0000431935" "UGT1A1" "0000431936" "UGT1A1" "0000432090" "UGT1A1" "0000432091" "UGT1A1" "0000432092" "UGT1A1" "0000432093" "UGT1A1" "0000432094" "UGT1A1" "0000432095" "UGT1A1" "0000432096" "UGT1A1" "0000432097" "UGT1A1" "0000432098" "UGT1A1" "0000432099" "UGT1A1" "0000432100" "UGT1A1" "0000432101" "UGT1A1" "0000432102" "UGT1A1" "0000432103" "UGT1A1" "0000432104" "UGT1A1" "0000432105" "UGT1A1" "0000432106" "UGT1A1" "0000432107" "UGT1A1" "0000432108" "UGT1A1" "0000432109" "UGT1A1" "0000432110" "UGT1A1" "0000432111" "UGT1A1" "0000432112" "UGT1A1" "0000432113" "UGT1A1" "0000432114" "UGT1A1" "0000432115" "UGT1A1" "0000432116" "UGT1A1" "0000432117" "UGT1A1" "0000432118" "UGT1A1" "0000432119" "UGT1A1" "0000432120" "UGT1A1" "0000432134" "UGT1A1" "0000432135" "UGT1A1" "0000432136" "UGT1A1" "0000432137" "UGT1A1" "0000432138" "UGT1A1" "0000432139" "UGT1A1" "0000432140" "UGT1A1" "0000432141" "UGT1A1" "0000432142" "UGT1A1" "0000432143" "UGT1A1" "0000432144" "UGT1A1" "0000432145" "UGT1A1" "0000432146" "UGT1A1" "0000432147" "UGT1A1" "0000432148" "UGT1A1" "0000432149" "UGT1A1" "0000432150" "UGT1A1" "0000432151" "UGT1A1" "0000432152" "UGT1A1" "0000432153" "UGT1A1" "0000432154" "UGT1A1" "0000432155" "UGT1A1" "0000432156" "UGT1A1" "0000432157" "UGT1A1" "0000432158" "UGT1A1" "0000432159" "UGT1A1" "0000432160" "G6PD" "0000432160" "UGT1A1" "0000432161" "UGT1A1" "0000432162" "UGT1A1" "0000432163" "UGT1A1" "0000432164" "UGT1A1" "0000432165" "UGT1A1" "0000432166" "UGT1A1" "0000432167" "UGT1A1" "0000432168" "UGT1A1" "0000432169" "UGT1A1" "0000432170" "UGT1A1" "0000432171" "UGT1A1" "0000432172" "UGT1A1" "0000432173" "UGT1A1" "0000432174" "UGT1A1" "0000432175" "UGT1A1" "0000432176" "UGT1A1" "0000432177" "UGT1A1" "0000432178" "UGT1A1" "0000432179" "UGT1A1" "0000432186" "UGT1A1" "0000432187" "UGT1A1" "0000432188" "UGT1A1" "0000432189" "UGT1A1" "0000432303" "UGT1A1" "0000451348" "UGT1A1" "0000451349" "UGT1A1" "0000451350" "UGT1A1" "0000451351" "UGT1A1" "0000451352" "UGT1A1" "0000451353" "UGT1A1" "0000451354" "UGT1A1" "0000451355" "UGT1A1" "0000451356" "UGT1A1" ## 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 = 734 "{{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}}" "0000052781" "3" "99" "2" "234669144" "234669144" "subst" "0.0221034" "01192" "UGT1A1_000001" "g.234669144G>A" "" "" "" "" "Crigler Najjar Syndrome type II" "SUMMARY record" "" "rs4148323" "0" "" "" "g.233760498G>A" "" "association" "" "0000052782" "3" "90" "2" "234668934" "234668934" "subst" "0" "01192" "UGT1A1_000002" "g.234668934A>G" "" "" "" "" "linked to Crigler Najjar Syndrome type II" "SUMMARY record" "" "" "0" "" "" "g.233760288A>G" "" "pathogenic (recessive)" "" "0000052783" "3" "99" "2" "234668977" "234668977" "subst" "0" "01192" "UGT1A1_000003" "g.234668977T>G" "" "" "" "" "Crigler Najjar Syndrome type II" "SUMMARY record" "" "rs111033541" "0" "" "" "g.233760331T>G" "" "pathogenic (recessive)" "" "0000052784" "1" "99" "2" "234669034" "234669034" "subst" "0" "01192" "UGT1A1_000004" "g.234669034C>A" "" "" "" "" "Crigler Najjar Syndrome type II and 6TA/6TA in the promoter" "SUMMARY record" "" "" "0" "" "" "g.233760388C>A" "" "pathogenic (recessive)" "" "0000055826" "3" "77" "2" "234669048" "234669048" "subst" "0" "01192" "UGT1A1_000005" "g.234669048C>G" "" "" "" "" "Crigler Najjar Syndrome type I" "SUMMARY record" "" "rs7255339" "0" "" "" "g.233760402C>G" "" "likely pathogenic (recessive)" "" "0000055827" "1" "55" "2" "234669051" "234669051" "subst" "0" "01192" "UGT1A1_000006" "g.234669051T>C" "" "" "" "" "Crgler Najjar Syndrome type II" "SUMMARY record" "" "" "0" "" "" "g.233760405T>C" "" "VUS" "" "0000055828" "0" "11" "2" "234669166" "234669166" "subst" "1.62455E-5" "01192" "UGT1A1_000007" "g.234669166C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.233760520C>T" "" "benign" "" "0000055829" "3" "99" "2" "234669180" "234669180" "subst" "8.12236E-6" "01192" "UGT1A1_000008" "g.234669180T>C" "" "" "" "" "Gilbert\'s Syndrome" "SUMMARY record" "" "rs5605993" "0" "" "" "g.233760534T>C" "" "pathogenic (recessive)" "" "0000055830" "1" "99" "2" "234669462" "234669462" "subst" "4.06392E-6" "01192" "UGT1A1_000009" "g.234669462T>C" "" "" "" "" "Crigler Najjar Syndrome type I." "SUMMARY record" "" "rs7255342" "0" "" "" "g.233760816T>C" "" "pathogenic (recessive)" "" "0000055832" "1" "99" "2" "234669607" "234669607" "subst" "0.000601069" "01192" "UGT1A1_000010" "g.234669607T>G" "" "" "" "" "Crigler Najjar Syndrome type II" "SUMMARY record" "" "rs35003977" "0" "" "" "g.233760961T>G" "" "pathogenic (recessive)" "" "0000055891" "1" "99" "2" "234669457" "234669457" "subst" "4.87749E-5" "01192" "UGT1A1_000011" "g.234669457T>A" "" "" "" "" "Crigler Najjar Syndrome type II" "SUMMARY record" "" "rs72551341" "0" "" "" "g.233760811T>A" "" "pathogenic (recessive)" "" "0000055892" "3" "99" "2" "234669558" "234669558" "subst" "3.24847E-5" "01192" "UGT1A1_000012" "g.234669558C>T" "" "" "" "" "Crigler Najjar Syndrome type II" "SUMMARY record" "" "rs72551343" "0" "" "" "g.233760912C>T" "" "pathogenic (recessive)" "" "0000055893" "1" "33" "2" "234669576" "234669576" "subst" "5.68491E-5" "01192" "UGT1A1_000013" "g.234669576A>G" "" "" "" "" "" "SUMMARY record" "" "rs144398951" "0" "" "" "g.233760930A>G" "" "likely benign" "" "0000055894" "1" "99" "2" "234669619" "234669619" "subst" "0.00143807" "01192" "UGT1A1_000014" "g.234669619C>A" "" "" "" "" "Gilbert\'s Syndrome (7TA/7TA in promoter)" "SUMMARY record" "" "rs35350960" "0" "" "" "g.233760973C>A" "" "pathogenic (recessive)" "" "0000055895" "3" "99" "2" "234669759" "234669759" "subst" "4.0986E-6" "01192" "UGT1A1_000015" "g.234669759G>T" "" "" "" "" "Crigler Najjar Syndrome type I" "SUMMARY record" "" "rs72551345" "0" "" "" "g.233761113G>T" "" "pathogenic (recessive)" "" "0000253434" "0" "10" "2" "234669473" "234669473" "subst" "0.00166637" "01943" "UGT1A1_000020" "g.234669473A>G" "" "" "" "UGT1A1(NM_000463.2):c.540A>G (p.E180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760827A>G" "" "benign" "" "0000255493" "0" "90" "2" "234669018" "234669018" "subst" "0" "01943" "UGT1A1_000016" "g.234669018A>T" "" "" "" "UGT1A1(NM_000463.2):c.85A>T (p.K29*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760372A>T" "" "pathogenic" "" "0000255498" "0" "90" "2" "234676986" "234676986" "subst" "0" "01943" "UGT1A1_000042" "g.234676986A>C" "" "" "" "UGT1A1(NM_000463.2):c.1205A>C (p.K402T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768340A>C" "" "pathogenic" "" "0000255499" "0" "90" "2" "234677001" "234677001" "del" "0" "01943" "UGT1A1_000044" "g.234677001del" "" "" "" "UGT1A1(NM_000463.2):c.1220del (p.(Lys407Argfs*5)), UGT1A1(NM_000463.2):c.1220delA (p.K407Rfs*5), UGT1A1(NM_000463.3):c.1220delA (p.K407Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768355del" "" "pathogenic" "" "0000255567" "0" "90" "2" "234669768" "234669768" "subst" "2.8697E-5" "01943" "UGT1A1_000024" "g.234669768A>T" "" "" "" "UGT1A1(NM_000463.2):c.835A>T (p.N279Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233761122A>T" "" "pathogenic" "" "0000255585" "0" "90" "2" "234676568" "234676568" "subst" "4.10179E-6" "01943" "UGT1A1_000035" "g.234676568A>G" "" "" "" "UGT1A1(NM_000463.2):c.1070A>G (p.Q357R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767922A>G" "" "pathogenic" "" "0000312939" "0" "30" "2" "234676903" "234676903" "subst" "0.000992649" "02325" "UGT1A1_000037" "g.234676903T>C" "" "" "" "UGT1A1(NM_000463.3):c.1122T>C (p.G374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768257T>C" "" "likely benign" "" "0000312940" "0" "30" "2" "234681098" "234681098" "subst" "7.3364E-5" "02325" "UGT1A1_000050" "g.234681098G>A" "" "" "" "UGT1A1(NM_000463.3):c.1495G>A (p.V499M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772452G>A" "" "likely benign" "" "0000319252" "0" "90" "2" "234676503" "234676503" "subst" "0" "01943" "UGT1A1_000032" "g.234676503G>A" "" "" "" "UGT1A1(NM_000463.2):c.1005G>A (p.W335*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767857G>A" "" "pathogenic" "" "0000319253" "0" "90" "2" "234676504" "234676504" "subst" "4.10182E-6" "01943" "UGT1A1_000034" "g.234676504C>T" "" "" "" "UGT1A1(NM_000463.2):c.1006C>T (p.R336W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767858C>T" "" "pathogenic" "" "0000319255" "0" "70" "2" "234676872" "234676872" "subst" "0.00122649" "01943" "UGT1A1_000036" "g.234676872C>T" "" "" "" "UGT1A1(NM_000463.2):c.1091C>T (p.P364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768226C>T" "" "likely pathogenic" "" "0000319256" "0" "70" "2" "234676926" "234676931" "del" "0" "01943" "UGT1A1_000038" "g.234676926_234676931del" "" "" "" "UGT1A1(NM_000463.2):c.1145_1150delTATGCA (p.I382_C383del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768280_233768285del" "" "likely pathogenic" "" "0000319257" "0" "90" "2" "234676941" "234676941" "subst" "0" "01943" "UGT1A1_000041" "g.234676941C>A" "" "" "" "UGT1A1(NM_000463.2):c.1160C>A (p.P387H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768295C>A" "" "pathogenic" "" "0000319258" "0" "50" "2" "234676988" "234676988" "subst" "3.69173E-5" "01943" "UGT1A1_000043" "g.234676988C>T" "" "" "" "UGT1A1(NM_000463.2):c.1207C>T (p.R403C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768342C>T" "" "VUS" "" "0000319259" "0" "90" "2" "234677086" "234677086" "subst" "0" "01943" "UGT1A1_000045" "g.234677086G>T" "" "" "" "UGT1A1(NM_000463.2):c.1304+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768440G>T" "" "pathogenic" "" "0000319260" "0" "50" "2" "234680951" "234680951" "subst" "4.49894E-5" "01943" "UGT1A1_000046" "g.234680951C>T" "" "" "" "UGT1A1(NM_000463.2):c.1348C>T (p.R450C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772305C>T" "" "VUS" "" "0000319261" "0" "50" "2" "234681032" "234681032" "subst" "2.03321E-5" "01943" "UGT1A1_000047" "g.234681032G>A" "" "" "" "UGT1A1(NM_000463.2):c.1429G>A (p.A477T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772386G>A" "" "VUS" "" "0000319262" "0" "90" "2" "234681059" "234681059" "subst" "0.000219555" "01943" "UGT1A1_000048" "g.234681059T>G" "" "" "" "UGT1A1(NM_000463.2):c.1456T>G (p.Y486D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772413T>G" "" "pathogenic" "" "0000319263" "0" "90" "2" "234669078" "234669078" "subst" "0" "01943" "UGT1A1_000017" "g.234669078C>T" "" "" "" "UGT1A1(NM_000463.2):c.145C>T (p.Q49*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760432C>T" "" "pathogenic" "" "0000319264" "0" "90" "2" "234681092" "234681092" "del" "0" "01943" "UGT1A1_000049" "g.234681092del" "" "" "" "UGT1A1(NM_000463.2):c.1489delG (p.A497Pfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772446del" "" "pathogenic" "" "0000319265" "0" "70" "2" "234681170" "234681170" "subst" "1.63952E-5" "01943" "UGT1A1_000051" "g.234681170C>T" "" "" "" "UGT1A1(NM_000463.2):c.1567C>T (p.R523*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772524C>T" "" "likely pathogenic" "" "0000319266" "0" "10" "2" "234669122" "234669122" "subst" "0.000215281" "01943" "UGT1A1_000018" "g.234669122C>T" "" "" "" "UGT1A1(NM_000463.2):c.189C>T (p.D63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760476C>T" "" "benign" "" "0000319267" "0" "90" "2" "234669155" "234669155" "subst" "4.06141E-6" "01943" "UGT1A1_000019" "g.234669155C>A" "" "" "" "UGT1A1(NM_000463.2):c.222C>A (p.Y74*), UGT1A1(NM_000463.3):c.222C>A (p.Y74*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760509C>A" "" "pathogenic" "" "0000319268" "0" "90" "2" "234668977" "234668977" "subst" "0" "01943" "UGT1A1_000003" "g.234668977T>G" "" "" "" "UGT1A1(NM_000463.2):c.44T>G (p.L15R), UGT1A1(NM_000463.3):c.44T>G (p.L15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760331T>G" "" "pathogenic" "" "0000319269" "0" "90" "2" "234669403" "234669403" "del" "0" "01943" "UGT1A1_000052" "g.234669403del" "" "" "" "UGT1A1(NM_000463.2):c.470delG (p.S157Tfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760757del" "" "pathogenic" "" "0000319270" "0" "50" "2" "234669505" "234669505" "subst" "0" "01943" "UGT1A1_000053" "g.234669505C>T" "" "" "" "UGT1A1(NM_000463.2):c.572C>T (p.S191F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760859C>T" "" "VUS" "" "0000319271" "0" "90" "2" "234669509" "234669509" "subst" "0" "01943" "UGT1A1_000021" "g.234669509C>A" "" "" "" "UGT1A1(NM_000463.2):c.576C>A (p.Y192*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760863C>A" "" "pathogenic" "" "0000319272" "0" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "01943" "UGT1A1_000012" "g.234669558C>T" "" "" "" "UGT1A1(NM_000463.2):c.625C>T (p.R209W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760912C>T" "" "pathogenic" "" "0000319273" "0" "90" "2" "234669607" "234669607" "subst" "0.000601069" "01943" "UGT1A1_000010" "g.234669607T>G" "" "" "" "UGT1A1(NM_000463.2):c.674T>G (p.V225G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760961T>G" "" "pathogenic" "" "0000319274" "0" "90" "2" "234669741" "234669749" "del" "0" "01943" "UGT1A1_000022" "g.234669741_234669749del" "" "" "" "UGT1A1(NM_000463.2):c.808_816delCCCAATATG (p.P270_M272del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233761095_233761103del" "" "pathogenic" "" "0000319275" "0" "70" "2" "234669755" "234669755" "del" "0" "01943" "UGT1A1_000023" "g.234669755del" "" "" "" "UGT1A1(NM_000463.2):c.822delT (p.F274Lfs*92)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233761109del" "" "likely pathogenic" "" "0000319276" "0" "90" "2" "234669772" "234669772" "del" "0" "01943" "UGT1A1_000025" "g.234669772del" "" "" "" "UGT1A1(NM_000463.2):c.839delG (p.C280Sfs*86)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233761126del" "" "pathogenic" "" "0000319277" "0" "90" "2" "234675692" "234675706" "delins" "0" "01943" "UGT1A1_000026" "g.234675692_234675706delinsA" "" "" "" "UGT1A1(NM_000463.2):c.877_891delTACATTAATGCTTCTinsA (p.Y293Rfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767046_233767060delinsA" "" "pathogenic" "" "0000319278" "0" "90" "2" "234675738" "234675738" "subst" "1.23084E-5" "01943" "UGT1A1_000027" "g.234675738G>A" "" "" "" "UGT1A1(NM_000463.2):c.923G>A (p.G308E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767092G>A" "" "pathogenic" "" "0000319279" "0" "10" "2" "234675826" "234675826" "subst" "0.00307073" "01943" "UGT1A1_000029" "g.234675826T>C" "" "" "" "UGT1A1(NM_000463.2):c.996+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767180T>C" "" "benign" "" "0000319280" "0" "10" "2" "234675829" "234675829" "subst" "0.00923052" "01943" "UGT1A1_000030" "g.234675829C>T" "" "" "" "UGT1A1(NM_000463.2):c.996+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767183C>T" "" "benign" "" "0000319282" "0" "50" "2" "234676929" "234676929" "subst" "0" "01943" "UGT1A1_000039" "g.234676929G>A" "" "" "" "UGT1A6(NM_001072.3):c.1145G>A (p.C382Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768283G>A" "" "VUS" "" "0000319283" "0" "30" "2" "234676930" "234676930" "subst" "0" "01943" "UGT1A1_000040" "g.234676930C>T" "" "" "" "UGT1A6(NM_001072.3):c.1146C>T (p.C382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768284C>T" "" "likely benign" "" "0000319284" "0" "50" "2" "234601810" "234601810" "subst" "0" "01943" "UGT1A6_000001" "g.234601810C>G" "" "" "" "UGT1A6(NM_001072.3):c.160C>G (p.H54D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233693164C>G" "" "VUS" "" "0000328188" "0" "50" "2" "234545928" "234545928" "subst" "0.000349758" "01804" "UGT1A8_000001" "g.234545928C>T" "" "" "" "UGT1A10(NM_019075.2):c.760C>T (p.(Arg254Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233637282C>T" "" "VUS" "" "0000328189" "0" "50" "2" "234545998" "234545998" "subst" "0.00190672" "01804" "UGT1A8_000002" "g.234545998G>A" "" "" "" "UGT1A10(NM_019075.2):c.830G>A (p.(Cys277Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233637352G>A" "" "VUS" "" "0000328190" "0" "50" "2" "234675779" "234675779" "subst" "0.00189944" "01804" "UGT1A1_000028" "g.234675779A>G" "" "" "" "UGT1A1(NM_000463.2):c.964A>G (p.(Ile322Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767133A>G" "" "VUS" "" "0000347558" "0" "90" "2" "234677001" "234677001" "del" "0" "02327" "UGT1A1_000044" "g.234677001del" "" "" "" "UGT1A1(NM_000463.2):c.1220del (p.(Lys407Argfs*5)), UGT1A1(NM_000463.2):c.1220delA (p.K407Rfs*5), UGT1A1(NM_000463.3):c.1220delA (p.K407Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768355del" "" "pathogenic" "" "0000350405" "0" "70" "2" "234669607" "234669607" "subst" "0.000601069" "02327" "UGT1A1_000010" "g.234669607T>G" "" "" "" "UGT1A1(NM_000463.2):c.674T>G (p.V225G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760961T>G" "" "likely pathogenic" "" "0000515156" "0" "50" "2" "234669115" "234669115" "subst" "4.06207E-6" "02327" "UGT1A1_000054" "g.234669115C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760469C>G" "" "VUS" "" "0000515157" "0" "90" "2" "234669155" "234669155" "subst" "4.06141E-6" "02327" "UGT1A1_000019" "g.234669155C>A" "" "" "" "UGT1A1(NM_000463.2):c.222C>A (p.Y74*), UGT1A1(NM_000463.3):c.222C>A (p.Y74*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760509C>A" "" "pathogenic" "" "0000515158" "0" "30" "2" "234669218" "234669218" "subst" "0" "02327" "UGT1A1_000055" "g.234669218C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760572C>T" "" "likely benign" "" "0000515159" "0" "50" "2" "234669255" "234669255" "subst" "4.87603E-5" "01804" "UGT1A1_000056" "g.234669255C>T" "" "" "" "UGT1A1(NM_000463.3):c.322C>T (p.(Arg108Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760609C>T" "" "VUS" "" "0000515160" "0" "50" "2" "234669403" "234669403" "subst" "0" "02327" "UGT1A1_000057" "g.234669403G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760757G>A" "" "VUS" "" "0000515161" "0" "30" "2" "234669410" "234669410" "subst" "0" "02327" "UGT1A1_000058" "g.234669410C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760764C>A" "" "likely benign" "" "0000515162" "0" "90" "2" "234669773" "234669773" "subst" "0" "01943" "UGT1A1_000059" "g.234669773C>A" "" "" "" "UGT1A1(NM_000463.2):c.840C>A (p.C280*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233761127C>A" "" "pathogenic" "" "0000515163" "0" "10" "2" "234676395" "234676396" "ins" "0" "01943" "UGT1A1_000060" "g.234676395_234676396insGT" "" "" "" "UGT1A1(NM_000463.2):c.997-100_997-99insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233767749_233767750insGT" "" "benign" "" "0000515164" "0" "90" "2" "234676505" "234676508" "dup" "0" "01943" "UGT1A1_000061" "g.234676505_234676508dup" "" "" "" "UGT1A1(NM_000463.2):c.1007_1010dupGGTA (p.Y337*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233767859_233767862dup" "" "pathogenic" "" "0000515165" "0" "90" "2" "234677001" "234677001" "del" "0" "01804" "UGT1A1_000044" "g.234677001del" "" "" "" "UGT1A1(NM_000463.2):c.1220del (p.(Lys407Argfs*5)), UGT1A1(NM_000463.2):c.1220delA (p.K407Rfs*5), UGT1A1(NM_000463.3):c.1220delA (p.K407Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233768355del" "" "pathogenic" "" "0000620990" "0" "30" "2" "234680946" "234680946" "subst" "0" "01943" "UGT1A1_000062" "g.234680946A>G" "" "" "" "UGT1A1(NM_000463.2):c.1343A>G (p.K448R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233772300A>G" "" "likely benign" "" "0000650501" "1" "50" "2" "234669144" "234669144" "subst" "0.0221034" "03575" "UGT1A1_000001" "g.234669144G>A" "191/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 191 heterozygous; {DB:CLININrs4148323}" "Germline" "" "rs4148323" "0" "" "" "g.233760498G>A" "" "VUS" "" "0000650502" "1" "90" "2" "234676583" "234676583" "subst" "0" "03575" "UGT1A1_000063" "g.234676583G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784535}" "Germline" "" "rs587784535" "0" "" "" "g.233767937G>T" "" "pathogenic" "" "0000650503" "1" "70" "2" "234676872" "234676872" "subst" "0.00122649" "03575" "UGT1A1_000036" "g.234676872C>T" "40/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "40 heterozygous; {DB:CLININrs34946978}" "Germline" "" "rs34946978" "0" "" "" "g.233768226C>T" "" "likely pathogenic" "" "0000650504" "1" "70" "2" "234681059" "234681059" "subst" "0.000219555" "03575" "UGT1A1_000048" "g.234681059T>G" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs34993780.2}" "Germline" "" "rs34993780" "0" "" "" "g.233772413T>G" "" "likely pathogenic" "" "0000654591" "0" "30" "2" "234627668" "234627668" "subst" "0.00247718" "02326" "UGT1A1_000064" "g.234627668C>T" "" "" "" "UGT1A4(NM_007120.3):c.202C>T (p.H68Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233719022C>T" "" "likely benign" "" "0000669618" "3" "50" "2" "234669144" "234669144" "subst" "0.0221034" "03575" "UGT1A1_000001" "g.234669144G>A" "19/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 19 homozygous; {DB:CLININrs4148323}" "Germline" "" "rs4148323" "0" "" "" "g.233760498G>A" "" "VUS" "" "0000669619" "3" "70" "2" "234676872" "234676872" "subst" "0.00122649" "03575" "UGT1A1_000036" "g.234676872C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs34946978}" "Germline" "" "rs34946978" "0" "" "" "g.233768226C>T" "" "likely pathogenic" "" "0000674805" "0" "70" "2" "234681015" "234681015" "subst" "0" "03531" "UGT1A1_000065" "g.234681015C>G" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.233772369C>G" "" "pathogenic" "" "0000674806" "0" "50" "2" "234681295" "234681295" "subst" "0" "03531" "UGT1A1_000067" "g.234681295C>T" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.233772649C>T" "" "VUS" "" "0000674807" "21" "70" "2" "234681192" "234681192" "subst" "0" "03531" "UGT1A1_000066" "g.234681192C>T" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "" "" "Germline" "" "" "0" "" "" "g.233772546C>T" "" "pathogenic" "" "0000674808" "21" "50" "2" "234681593" "234681593" "subst" "0" "03531" "UGT1A1_000068" "g.234681593C>T" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "Nawel Trabelsi" "" "" "Germline" "" "" "0" "" "" "g.233772947C>T" "" "VUS" "" "0000682972" "3" "70" "2" "234669048" "234669048" "subst" "0" "00006" "UGT1A1_000005" "g.234669048C>G" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000682973" "3" "70" "2" "234669048" "234669048" "subst" "0" "00006" "UGT1A1_000005" "g.234669048C>G" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000682974" "3" "70" "2" "234669048" "234669048" "subst" "0" "00006" "UGT1A1_000005" "g.234669048C>G" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000682975" "3" "70" "2" "234669048" "234669048" "subst" "0" "00006" "UGT1A1_000005" "g.234669048C>G" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000682976" "3" "70" "2" "234669048" "234669048" "subst" "0" "00006" "UGT1A1_000005" "g.234669048C>G" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000683000" "0" "50" "2" "234676931" "234676931" "subst" "8.20378E-6" "00006" "UGT1A1_000070" "g.234676931A>G" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000683011" "0" "50" "18" "55342204" "55342204" "subst" "4.87357E-5" "00006" "UGT1A1_000069" "g.55342204C>T" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000684745" "0" "30" "2" "234669619" "234669619" "subst" "0.00143807" "00004" "UGT1A1_000014" "g.234669619C>A" "frequency 0.016" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.233760973C>A" "" "likely benign" "" "0000687271" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Haddad 2017:28592168}" "" "(TA)7, -41_-40dup" "" "Germline" "" "" "0" "" "" "" "" "association" "" "0000688703" "0" "90" "2" "234668977" "234668977" "subst" "0" "02325" "UGT1A1_000003" "g.234668977T>G" "" "" "" "UGT1A1(NM_000463.2):c.44T>G (p.L15R), UGT1A1(NM_000463.3):c.44T>G (p.L15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688704" "0" "50" "2" "234680925" "234680925" "subst" "8.59789E-5" "02327" "UGT1A1_000071" "g.234680925T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000711866" "3" "50" "2" "234668570" "234668570" "subst" "0" "03531" "UGT1A1_000115" "g.234668570C>T" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "-364C>T" "" "Germline" "" "" "0" "" "" "g.233759924C>T" "" "VUS" "" "0000711867" "3" "50" "2" "234668893" "234668894" "dup" "0" "03531" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "-41_-40dup" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000711868" "21" "50" "2" "234681295" "234681295" "subst" "0" "03531" "UGT1A1_000067" "g.234681295C>T" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000711869" "3" "50" "2" "234681416" "234681416" "subst" "0" "03531" "UGT1A1_000072" "g.234681416T>C" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "" "" "Germline" "" "rs10929303" "0" "" "" "g.233772770T>C" "" "VUS" "" "0000711870" "3" "50" "2" "234681544" "234681544" "subst" "0" "03531" "UGT1A1_000073" "g.234681544G>T" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "" "" "Germline" "" "rs1042640" "0" "" "" "g.233772898G>C" "" "VUS" "" "0000711871" "21" "50" "2" "234681645" "234681645" "subst" "0" "03531" "UGT1A1_000074" "g.234681645G>C" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "" "" "Germline" "" "rs8330" "0" "" "" "g.233772999G>C" "" "VUS" "" "0000718627" "0" "30" "2" "234669074" "234669074" "subst" "0.00251432" "01943" "UGT1A1_000075" "g.234669074C>T" "" "" "" "UGT1A1(NM_000463.2):c.141C>T (p.I47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718628" "0" "50" "2" "234669112" "234669112" "subst" "0" "02325" "UGT1A1_000076" "g.234669112T>C" "" "" "" "UGT1A1(NM_000463.3):c.179T>C (p.L60P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718629" "0" "90" "2" "234669144" "234669144" "subst" "0.0221034" "01943" "UGT1A1_000001" "g.234669144G>A" "" "" "" "UGT1A1(NM_000463.2):c.211G>A (p.G71R), UGT1A1(NM_000463.3):c.211G>A (p.G71R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800488" "0" "30" "2" "234638210" "234638210" "subst" "2.84282E-5" "01943" "UGT1A1_000077" "g.234638210T>C" "" "" "" "UGT1A3(NM_019093.2):c.438T>C (p.F146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800489" "0" "70" "2" "234681170" "234681170" "subst" "1.63952E-5" "02327" "UGT1A1_000051" "g.234681170C>T" "" "" "" "UGT1A1(NM_000463.2):c.1567C>T (p.R523*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000849798" "0" "90" "2" "234677001" "234677001" "del" "0" "02325" "UGT1A1_000044" "g.234677001del" "" "" "" "UGT1A1(NM_000463.2):c.1220del (p.(Lys407Argfs*5)), UGT1A1(NM_000463.2):c.1220delA (p.K407Rfs*5), UGT1A1(NM_000463.3):c.1220delA (p.K407Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858412" "0" "30" "2" "234638245" "234638245" "subst" "5.68958E-5" "01943" "UGT1A1_000078" "g.234638245C>G" "" "" "" "UGT1A3(NM_019093.2):c.473C>G (p.A158G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869462" "1" "70" "2" "234676872" "234676872" "subst" "0.00122649" "00006" "UGT1A1_000036" "g.234676872C>T" "" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "" "Pro365Leu" "" "Germline" "" "rs34946978" "0" "" "" "g.233768226C>T" "" "likely pathogenic" "" "0000869463" "1" "70" "2" "234676872" "234676872" "subst" "0.00122649" "00006" "UGT1A1_000036" "g.234676872C>T" "" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "" "Pro365Leu" "" "Germline" "" "rs34946978" "0" "" "" "g.233768226C>T" "" "likely pathogenic" "" "0000869464" "1" "90" "2" "234675692" "234675705" "delins" "0" "00006" "UGT1A1_000079" "g.234675692_234675705delinsA" "" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "" "880_893delinsA (Tyr294MetfsTer69)" "" "Germline" "" "rs587776761" "0" "" "" "g.233767046_233767059delinsA" "" "pathogenic" "" "0000869465" "3" "30" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "11/49 cases" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "" "A(TA)6TAA" "association mildly elevated bilirubin levels" "Germline" "" "" "0" "" "" "" "" "association" "" "0000869466" "3" "10" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "37/49 cases" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "benign" "" "0000869467" "1" "30" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "1/49 cases" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "" "(TA)6/7" "" "Germline" "" "" "0" "" "" "" "" "association" "" "0000869468" "2" "10" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "1/49 cases" "{DOI:Appak 2022:10.5152/TurkArchPediatr.2022.21291}" "" "(TA)6/7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "benign" "" "0000885024" "0" "70" "2" "234676988" "234676988" "subst" "3.69173E-5" "02327" "UGT1A1_000043" "g.234676988C>T" "" "" "" "UGT1A1(NM_000463.2):c.1207C>T (p.R403C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000909820" "3" "90" "2" "234676519" "234676519" "subst" "2.8713E-5" "00006" "UGT1A1_000080" "g.234676519C>T" "" "{PMID:Maruo 2003:14581810}" "" "" "enzyme activity <0.01" "Germline" "" "" "0" "" "" "g.233767873C>T" "" "pathogenic (recessive)" "" "0000909822" "21" "90" "2" "234676519" "234676519" "subst" "2.8713E-5" "00006" "UGT1A1_000080" "g.234676519C>T" "" "{PMID:Maruo 2003:14581810}" "" "" "" "Germline" "" "" "0" "" "" "g.233767873C>T" "" "pathogenic (recessive)" "" "0000909823" "21" "50" "2" "234680984" "234680984" "subst" "0" "00006" "UGT1A1_000081" "g.234680984T>C" "" "{PMID:Maruo 2003:14581810}" "" "" "" "Germline" "" "" "0" "" "" "g.233772338T>C" "" "VUS" "" "0000909824" "21" "50" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Maruo 2003:14581810}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000909829" "3" "90" "2" "234669446" "234669448" "del" "0" "00006" "UGT1A1_000082" "g.234669446_234669448del" "" "{PMID:Rosatelli 1997:9039987}" "" "F170del" "" "Germline" "" "" "0" "" "" "g.233760800_233760802del" "" "pathogenic (recessive)" "" "0000909830" "3" "90" "2" "234669446" "234669448" "del" "0" "00006" "UGT1A1_000082" "g.234669446_234669448del" "" "{PMID:Rosatelli 1997:9039987}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909831" "1" "90" "2" "234669446" "234669448" "del" "0" "00006" "UGT1A1_000082" "g.234669446_234669448del" "" "{PMID:Rosatelli 1997:9039987}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909832" "2" "90" "2" "234669407" "234669408" "ins" "0" "00006" "UGT1A1_000083" "g.234669407_234669408insT" "" "{PMID:Rosatelli 1997:9039987}" "" "470insT" "" "Germline" "yes" "" "0" "" "" "g.233760761_233760762insT" "" "pathogenic (recessive)" "" "0000909833" "3" "90" "2" "234669446" "234669448" "del" "0" "00006" "UGT1A1_000082" "g.234669446_234669448del" "" "{PMID:Rosatelli 1997:9039987}" "" "F170del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909834" "21" "90" "2" "234669446" "234669448" "del" "0" "00006" "UGT1A1_000082" "g.234669446_234669448del" "" "{PMID:Rosatelli 1997:9039987}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909835" "11" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Rosatelli 1997:9039987}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000909836" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Koiwai 1995:8528206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909837" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Koiwai 1995:8528206}" "" "" "UGT activity 0.14" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909838" "1" "90" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "" "{PMID:Koiwai 1995:8528206}" "" "" "UGT activity 0.37" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909839" "1" "90" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "" "{PMID:Koiwai 1995:8528206}" "" "" "cDNA expression cloning gives 0.14 UGT activity" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909840" "1" "90" "2" "234676880" "234676880" "subst" "0" "00006" "UGT1A1_000084" "g.234676880C>G" "" "{PMID:Koiwai 1995:8528206}" "" "" "UGT activity 0.21" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909841" "1" "90" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "{PMID:Koiwai 1995:8528206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909842" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Yamamoto 1998:9621515}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909843" "3" "70" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000909844" "3" "10" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "" "{PMID:Yamamoto 1998:9621515}" "" "TA6" "" "Germline" "" "" "0" "" "" "g.233760235_233760248=" "" "benign" "" "0000909845" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Yamamoto 1998:9621515}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909846" "3" "70" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000909847" "3" "10" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "" "{PMID:Yamamoto 1998:9621515}" "" "TA6" "" "Germline" "" "" "0" "" "" "g.233760235_233760248=" "" "benign" "" "0000909848" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Yamamoto 1998:9621515}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909849" "3" "70" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000909850" "3" "10" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "" "{PMID:Yamamoto 1998:9621515}" "" "TA6" "" "Germline" "" "" "0" "" "" "g.233760235_233760248=" "" "benign" "" "0000909851" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Yamamoto 1998:9621515}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909852" "3" "70" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000909853" "3" "10" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "" "{PMID:Yamamoto 1998:9621515}" "" "TA6" "" "Germline" "" "" "0" "" "" "g.233760235_233760248=" "" "benign" "" "0000909854" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Yamamoto 1998:9621515}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909855" "3" "70" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000909856" "3" "10" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "" "{PMID:Yamamoto 1998:9621515}" "" "TA6" "" "Germline" "" "" "0" "" "" "g.233760235_233760248=" "" "benign" "" "0000909857" "3" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Yamamoto 1998:9621515}" "" "" "" "Germline" "yes" "" "0" "" "" "g.233760912C>T" "" "pathogenic (recessive)" "" "0000909859" "3" "10" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "" "{PMID:Yamamoto 1998:9621515}" "" "TA6" "" "Germline" "" "" "0" "" "" "g.233760235_233760248=" "" "benign" "" "0000909860" "1" "90" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "" "{PMID:Yamamoto 1998:9621515}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000909862" "3" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Yamamoto 1998:9621515}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "likely pathogenic" "" "0000909865" "3" "90" "2" "234669798" "234669798" "subst" "0" "00006" "UGT1A1_000085" "g.234669798G>C" "" "{PMID:Gantla 1998:9497253}" "" "" "effect on splicing from in vitro splicing assay" "Germline" "" "" "0" "" "" "g.233761152G>C" "" "pathogenic (recessive)" "" "0000909866" "21" "90" "2" "234669078" "234669078" "subst" "0" "00006" "UGT1A1_000017" "g.234669078C>T" "" "{PMID:Gantla 1998:9497253}" "" "" "" "Germline" "" "" "0" "" "" "g.233760432C>T" "" "pathogenic (recessive)" "" "0000909867" "11" "90" "2" "234676864" "234676864" "subst" "0" "00006" "UGT1A1_000086" "g.234676864A>G" "" "{PMID:Gantla 1998:9497253}" "" "IVS3-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909868" "21" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Huang 2001:11668224}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909869" "11" "90" "2" "234676967" "234676967" "del" "0" "00006" "UGT1A1_000087" "g.234676967del" "" "{PMID:Huang 2001:11668224}" "" "1186delG" "" "Germline" "" "" "0" "" "" "g.233768321del" "" "pathogenic (recessive)" "" "0000909870" "21" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Huang 2001:11668224}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909871" "11" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Huang 2001:11668224}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS (!)" "" "0000909872" "1" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Huang 2001:11668224}" "" "" "normal serum bilirubin concentrations" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS (!)" "" "0000909873" "2" "90" "2" "234676967" "234676967" "del" "0" "00006" "UGT1A1_000087" "g.234676967del" "" "{PMID:Huang 2001:11668224}" "" "1186delG" "" "Germline" "" "" "0" "" "" "g.233768321del" "" "pathogenic (recessive)" "" "0000909874" "3" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Bosma 1993:8514037}, {PMID:Bosma 1995:7565971}" "" "promoter A(TA)6TAA" "significantly higher serum bilirubin 16 mg/dl" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909875" "3" "90" "2" "234675738" "234675738" "subst" "1.23084E-5" "00006" "UGT1A1_000027" "g.234675738G>A" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909876" "3" "90" "2" "234675738" "234675738" "subst" "1.23084E-5" "00006" "UGT1A1_000027" "g.234675738G>A" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909877" "3" "90" "2" "234676568" "234676568" "subst" "4.10179E-6" "00006" "UGT1A1_000035" "g.234676568A>G" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "g.233767922A>G" "" "pathogenic (recessive)" "" "0000909878" "3" "90" "2" "234676924" "234676924" "subst" "0" "00006" "UGT1A1_000088" "g.234676924C>G" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "yes" "" "0" "" "" "g.233768278C>G" "" "pathogenic (recessive)" "" "0000909879" "3" "90" "2" "234675738" "234675738" "subst" "1.23084E-5" "00006" "UGT1A1_000027" "g.234675738G>A" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909880" "3" "90" "2" "234676924" "234676924" "subst" "0" "00006" "UGT1A1_000088" "g.234676924C>G" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909884" "3" "90" "2" "234676982" "234676982" "subst" "0" "00006" "UGT1A1_000089" "g.234676982G>C" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "g.233768336G>C" "" "pathogenic (recessive)" "" "0000909885" "3" "90" "2" "234676982" "234676982" "subst" "0" "00006" "UGT1A1_000089" "g.234676982G>C" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "g.233768336G>C" "" "pathogenic (recessive)" "" "0000909886" "2" "90" "2" "234676982" "234676982" "subst" "0" "00006" "UGT1A1_000089" "g.234676982G>C" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909887" "1" "90" "2" "234676567" "234676567" "subst" "0" "00006" "UGT1A1_000090" "g.234676567C>T" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "g.233767921C>T" "" "pathogenic (recessive)" "" "0000909888" "1" "90" "2" "234676503" "234676503" "subst" "0" "00006" "UGT1A1_000032" "g.234676503G>A" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "g.233767857G>A" "" "pathogenic (recessive)" "" "0000909889" "2" "90" "2" "234676883" "234676883" "subst" "0" "00006" "UGT1A1_000091" "g.234676883G>A" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "g.233768237G>A" "" "pathogenic (recessive)" "" "0000909890" "1" "90" "2" "234676503" "234676503" "subst" "0" "00006" "UGT1A1_000032" "g.234676503G>A" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909891" "1" "90" "2" "234675690" "234675690" "subst" "4.10361E-6" "00006" "UGT1A1_000093" "g.234675690C>T" "" "{PMID:Labrune 1994:7989045}" "" "872C>T (A291V)" "" "Germline" "" "" "0" "" "" "g.233767044C>T" "" "pathogenic (recessive)" "" "0000909892" "1" "90" "2" "234676982" "234676982" "subst" "0" "00006" "UGT1A1_000089" "g.234676982G>C" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909893" "2" "90" "2" "234677004" "234677004" "dup" "0" "00006" "UGT1A1_000092" "g.234677004dup" "" "{PMID:Labrune 1994:7989045}" "" "1223insG" "" "Germline" "" "" "0" "" "" "g.233768358dup" "" "pathogenic (recessive)" "" "0000909894" "2" "90" "2" "234677063" "234677063" "subst" "0" "00006" "UGT1A1_000094" "g.234677063A>G" "" "{PMID:Labrune 1994:7989045}" "" "" "" "Germline" "" "" "0" "" "" "g.233768417A>G" "" "pathogenic (recessive)" "" "0000909895" "2" "90" "2" "234680912" "234680912" "subst" "0" "00006" "UGT1A1_000095" "g.234680912A>T" "" "{PMID:Labrune 1994:7989045}" "" "1308A>T (K437X)" "" "Germline" "" "" "0" "" "" "g.233772266A>T" "" "pathogenic (recessive)" "" "0000909896" "3" "90" "2" "234669773" "234669773" "subst" "0" "00006" "UGT1A1_000059" "g.234669773C>A" "" "{PMID:Aono 1994:7936809}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909897" "3" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Seppen 1994:7989595}" "" "625T>C" "" "Germline" "" "" "0" "" "" "g.233760912C>T" "" "pathogenic (recessive)" "" "0000909898" "1" "90" "2" "234669457" "234669457" "subst" "4.87749E-5" "00006" "UGT1A1_000011" "g.234669457T>A" "" "{PMID:Seppen 1994:7989595}" "" "" "" "Germline" "" "" "0" "" "" "g.233760811T>A" "" "pathogenic (recessive)" "" "0000909899" "2" "90" "2" "234675788" "234675788" "del" "0" "00006" "UGT1A1_000096" "g.234675788del" "" "{PMID:Seppen 1994:7989595}" "" "973delG" "" "Germline" "" "" "0" "" "" "g.233767142del" "" "pathogenic (recessive)" "" "0000909900" "3" "90" "2" "234676567" "234676567" "subst" "0" "00006" "UGT1A1_000090" "g.234676567C>T" "" "{PMID:Seppen 1994:7989595}" "" "" "liver no UGT activity" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909901" "3" "90" "2" "234676905" "234676905" "subst" "0" "00006" "UGT1A1_000097" "g.234676905C>T" "" "{PMID:Seppen 1994:7989595}" "" "1130C>T (Ser375Phe)" "liver no UGT activity" "Germline" "" "" "0" "" "" "g.233768259C>T" "" "pathogenic (recessive)" "" "0000909902" "3" "90" "2" "234675679" "234675812" "del" "0" "00006" "UGT1A1_000098" "g.(234669798_234675679)_(234675812_234676494)del" "" "{PMID:Seppen 1994:7989595}" "" "del ex2" "liver no UGT activity" "Germline" "" "" "0" "" "" "g.(233761152_233767033)_(233767166_233767848)del" "" "pathogenic (recessive)" "" "0000909903" "3" "90" "2" "234669446" "234669448" "del" "0" "00006" "UGT1A1_000082" "g.234669446_234669448del" "" "{PMID:Seppen 1994:7989595}" "" "508-510del" "liver no UGT activity" "Germline" "" "" "0" "" "" "g.233760800_233760802del" "" "pathogenic (recessive)" "" "0000909904" "3" "90" "2" "234669759" "234669759" "subst" "8.19719E-6" "00006" "UGT1A1_000099" "g.234669759G>C" "" "{PMID:Seppen 1994:7989595}" "" "826G>T (Gly276Arg)" "liver no UGT activity" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909905" "1" "90" "2" "234669462" "234669462" "subst" "4.06392E-6" "00006" "UGT1A1_000009" "g.234669462T>C" "" "{PMID:Seppen 1994:7989595}" "" "" "liver no UGT activity" "Germline" "" "" "0" "" "" "g.233760816T>C" "" "pathogenic (recessive)" "" "0000909907" "2" "90" "2" "234675694" "234675707" "del" "0" "00006" "UGT1A1_000100" "g.234675694_234675707del" "" "{PMID:Seppen 1994:7989595}" "" "del 879-892" "" "Germline" "" "" "0" "" "" "g.233767048_233767061del" "" "pathogenic (recessive)" "" "0000909908" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Aono 1995:7715297}" "" "G>A (Gly71Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909909" "1" "90" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "" "{PMID:Aono 1995:7715297}" "" "G>A (Pro29Gln)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909910" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Aono 1995:7715297}" "" "G>A (G71R" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909911" "1" "90" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "" "{PMID:Aono 1995:7715297}" "" "G>A (Pro229Gln)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909912" "1" "90" "2" "234676880" "234676880" "subst" "0" "00006" "UGT1A1_000084" "g.234676880C>G" "" "{PMID:Aono 1995:7715297}" "" "C>G (Arg367Gly)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909913" "1" "90" "2" "234669325" "234669325" "subst" "0" "00006" "UGT1A1_000101" "g.234669325T>C" "" "{PMID:Aono 1995:7715297}" "" "T>C (Leu132Pro)" "" "Germline" "" "" "0" "" "" "g.233760679T>C" "" "pathogenic (dominant)" "" "0000909914" "3" "90" "2" "234668977" "234668977" "subst" "0" "00006" "UGT1A1_000003" "g.234668977T>G" "" "{PMID:Seppen 1996:8706880}" "" "" "" "Germline" "" "" "0" "" "" "g.233760331T>G" "" "pathogenic (recessive)" "" "0000909915" "3" "90" "2" "234668977" "234668977" "subst" "0" "00006" "UGT1A1_000003" "g.234668977T>G" "" "{PMID:Seppen 1996:8706880}" "" "" "" "Germline" "" "" "0" "" "" "g.233760331T>G" "" "pathogenic (recessive)" "" "0000909929" "3" "90" "2" "234676941" "234676942" "delins" "0" "00006" "UGT1A1_000102" "g.234676941_234676942delinsGT" "" "{PMID:Ciotti 1997:9028453}" "" "" "" "Germline" "" "" "0" "" "" "g.233768295_233768296delinsGT" "" "pathogenic (recessive)" "" "0000909930" "1" "90" "2" "234676941" "234676942" "delins" "0" "00006" "UGT1A1_000102" "g.234676941_234676942delinsGT" "" "{PMID:Ciotti 1997:9028453}" "" "" "" "Germline" "" "" "0" "" "" "g.233768295_233768296delinsGT" "" "pathogenic (recessive)" "" "0000909931" "2" "90" "2" "234676567" "234676567" "subst" "0" "00006" "UGT1A1_000090" "g.234676567C>T" "" "{PMID:Ciotti 1997:9028453}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909932" "3" "90" "2" "234669054" "234669055" "del" "0" "00006" "UGT1A1_000103" "g.234669054_234669055del" "" "{PMID:Ciotti 1997:9028453}" "" "120_121delCT" "" "Germline" "" "" "0" "" "" "g.233760408_233760409del" "" "pathogenic (recessive)" "" "0000909933" "3" "90" "2" "234669759" "234669759" "subst" "8.19719E-6" "00006" "UGT1A1_000099" "g.234669759G>C" "" "{PMID:Ciotti 1995:7852413}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909934" "21" "90" "2" "234676504" "234676504" "subst" "4.10182E-6" "00006" "UGT1A1_000034" "g.234676504C>T" "" "{PMID:Ciotti 1998:9639672}" "" "" "" "Germline" "" "" "0" "" "" "g.233767858C>T" "" "pathogenic (recessive)" "" "0000909935" "11" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Ciotti 1998:9639672}" "" "TA8" "0.10-0.15 transcriptional activity in cloned expression construct" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "pathogenic (recessive)" "" "0000909936" "11" "90" "2" "234675696" "234675696" "subst" "0" "00006" "UGT1A1_000104" "g.234675696T>C" "" "{PMID:Ciotti 1998:9639672}" "" "" "" "Germline" "" "" "0" "" "" "g.233767050T>C" "" "pathogenic (recessive)" "" "0000909937" "21" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Ciotti 1998:9639672}" "" "TA8" "0.10-0.15 transcriptional activity in cloned expression construct" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "pathogenic (recessive)" "" "0000909938" "1" "90" "2" "234675743" "234675743" "subst" "0" "00006" "UGT1A1_000105" "g.234675743A>G" "" "{PMID:Ciotti 1999:9932859}" "" "" "" "Germline" "" "" "0" "" "" "g.233767097A>G" "" "pathogenic (recessive)" "" "0000909939" "2" "90" "2" "234677073" "234677073" "subst" "0" "00006" "UGT1A1_000106" "g.234677073T>C" "" "{PMID:Ciotti 1999:9932859}" "" "" "" "Germline" "" "" "0" "" "" "g.233768427T>C" "" "pathogenic (recessive)" "" "0000909940" "3" "10" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "24/71 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[6]" "" "Germline" "" "" "0" "" "" "g.233760235_233760248=" "" "benign" "" "0000909941" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "39/71 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000909942" "3" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "8/71 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000909943" "3" "10" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "33/47 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[6]" "" "Germline" "" "" "0" "" "" "g.233760235_233760248=" "" "benign" "" "0000909944" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "13/47 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000909945" "3" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "1/47 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000909946" "3" "10" "2" "234668881" "234668894" "=" "0" "00006" "UGT1A1_000111" "g.234668881_234668894=" "26/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[6]" "" "Germline" "" "" "0" "" "" "g.233760235_233760248=" "" "benign" "" "0000909947" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "37/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000909948" "3" "10" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "19/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "benign" "" "0000909949" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "6/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000909950" "3" "70" "2" "234668891" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668891_234668894dup" "2/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[8]" "" "Germline" "" "" "0" "" "" "g.233760245_233760248dup" "" "VUS" "" "0000909951" "1" "70" "2" "234668891" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668891_234668894dup" "4/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[8]" "" "Germline" "" "" "0" "" "" "g.233760245_233760248dup" "" "VUS" "" "0000909952" "2" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "5/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000909953" "1" "70" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "5/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[5]" "expression cloning indicates increased promoter activity" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "likely benign (!)" "" "0000909954" "1" "70" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "2/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[5]" "expression cloning indicates increased promoter activity" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "likely benign (!)" "" "0000909955" "2" "70" "2" "234668891" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668891_234668894dup" "6/101 control individuals" "{PMID:Beutler 1998:9653159}" "" "TA[8]" "" "Germline" "" "" "0" "" "" "g.233760245_233760248dup" "" "VUS" "" "0000909956" "1" "30" "2" "234668828" "234668828" "subst" "0" "00006" "UGT1A1_000114" "g.234668828T>C" "" "{PMID:Beutler 1998:9653159}" "" "-106T>C" "" "Germline" "" "" "0" "" "" "g.233760182T>C" "" "likely benign" "" "0000909957" "1" "30" "2" "234668828" "234668828" "subst" "0" "00006" "UGT1A1_000114" "g.234668828T>C" "" "{PMID:Beutler 1998:9653159}" "" "-106T>C" "" "Germline" "" "" "0" "" "" "g.233760182T>C" "" "likely benign" "" "0000909958" "3" "90" "2" "234676979" "234676979" "subst" "2.87132E-5" "00006" "UGT1A1_000107" "g.234676979A>G" "" "{PMID:Labrune 2002:12402338}, {PMID:Petit 2006:16712705}" "" "1213A>G (N400D)" "" "Germline" "" "" "0" "" "" "g.233768333A>G" "" "pathogenic (recessive)" "" "0000909959" "3" "70" "2" "234668891" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668891_234668894dup" "" "{PMID:Labrune 2002:12402338}, {PMID:Petit 2006:16712705}" "" "TA[8]" "" "Germline" "" "" "0" "" "" "g.233760245_233760248dup" "" "association" "" "0000909960" "1" "90" "2" "234680991" "234680991" "subst" "0" "00006" "UGT1A1_000108" "g.234680991A>C" "" "{PMID:Chalasani 1997:9178703}" "" "1391A>C (Glu>Ala)" "" "Germline" "" "" "0" "" "" "g.233772345A>C" "" "pathogenic (recessive)" "" "0000909961" "3" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Chalasani 1997:9178703}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000909990" "3" "90" "2" "234669048" "234669048" "subst" "0" "00006" "UGT1A1_000005" "g.234669048C>G" "" "{PMID:Kadakol 2000:11013440}" "" "115C>G" "" "Germline" "" "" "0" "" "" "g.233760402C>G" "" "pathogenic (recessive)" "" "0000909991" "3" "90" "2" "234669155" "234669155" "subst" "4.06141E-6" "00006" "UGT1A1_000019" "g.234669155C>A" "" "{PMID:Kadakol 2000:11013440}" "" "222C>A" "inactive" "Germline" "" "" "0" "" "" "g.233760509C>A" "" "pathogenic (recessive)" "" "0000909992" "3" "90" "2" "234669450" "234669450" "del" "4.06524E-6" "00006" "UGT1A1_000125" "g.234669450del" "" "{PMID:Kadakol 2000:11013440}" "" "517delC" "inactive" "Germline" "" "" "0" "" "" "g.233760804del" "" "pathogenic (recessive)" "" "0000909993" "3" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Kadakol 2000:11013440}" "" "722-723delAG" "inactive" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000909994" "1" "90" "2" "234669607" "234669607" "subst" "0.000601069" "00006" "UGT1A1_000010" "g.234669607T>G" "" "{PMID:Kadakol 2000:11013440}" "" "671T>G (V224G)" "residual activity" "Germline" "" "" "0" "" "" "g.233760961T>G" "" "pathogenic (recessive)" "" "0000909995" "3" "90" "2" "234676541" "234676541" "del" "0" "00006" "UGT1A1_000131" "g.234676541del" "" "{PMID:Kadakol 2000:11013440}" "" "1046delA" "inactive" "Germline" "" "" "0" "" "" "g.233767895del" "" "pathogenic (recessive)" "" "0000909996" "1" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Kadakol 2000:11013440}" "" "1223delA/N" "inactive; combination of variants not reported" "Germline" "" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000909997" "3" "90" "2" "234681051" "234681051" "subst" "0" "00006" "UGT1A1_000134" "g.234681051G>A" "" "{PMID:Kadakol 2000:11013440}" "" "1451G>A (W484X)" "inactive" "Germline" "" "" "0" "" "" "g.233772405G>A" "" "pathogenic (recessive)" "" "0000909998" "3" "90" "2" "234681052" "234681052" "subst" "0" "00006" "UGT1A1_000135" "g.234681052G>A" "" "{PMID:Kadakol 2000:11013440}" "" "1452G>A (W484X)" "inactive" "De novo" "" "" "0" "" "" "g.233772406G>A" "" "pathogenic (recessive)" "" "0000909999" "1" "90" "2" "234681090" "234681090" "subst" "0" "00006" "UGT1A1_000136" "g.234681090T>A" "" "{PMID:Kadakol 2000:11013440}" "" "1490T>A/N (L497X/N)" "inactive; combination of variants not reported" "Germline" "" "" "0" "" "" "g.233772444T>A" "" "pathogenic (recessive)" "" "0000910000" "1" "90" "2" "234676908" "234676908" "subst" "0" "00006" "UGT1A1_000119" "g.234676908A>G" "" "{PMID:Kadakol 2000:11013440}" "" "1130A>G/N (H377R/N)" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.233768262A>G" "" "pathogenic (recessive)" "" "0000910001" "3" "90" "2" "234676911" "234676911" "subst" "0" "00006" "UGT1A1_000132" "g.234676911G>T" "" "{PMID:Kadakol 2000:11013440}" "" "1133G>T (G377V)" "" "Germline" "" "" "0" "" "" "g.233768265G>T" "" "pathogenic (recessive)" "" "0000910002" "2" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Kadakol 2000:11013440}" "" "722-723delAG" "inactive" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000910003" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "12/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "A(TA)7TAA" "plasma bilirubin 0.86 mg/dl" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "likely pathogenic (!)" "" "0000910004" "2" "70" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000113" "g.234665659T>G" "29/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "-3263T>G (c.-3275T>G)" "0.6 promoter activity in luciferase expression cloning; plasma bilirubin 0.86 mg/dl" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "likely pathogenic (!)" "" "0000910006" "3" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "18/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "G71R" "plasma bilirubin 0.69 mg/dl" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000910007" "1" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "18/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "G71R" "plasma bilirubin 0.69 mg/dl" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000910009" "1" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "18/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "G71R" "plasma bilirubin 0.82 mg/dl" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000910010" "2" "70" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000113" "g.234665659T>G" "29/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "-3263T>G (c.-3275T>G)" "0.6 promoter activity in luciferase expression cloning; plasma bilirubin 0.82 mg/dl" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "likely pathogenic (!)" "" "0000910012" "1" "70" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000113" "g.234665659T>G" "29/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "-3263T>G (c.-3275T>G)" "0.6 promoter activity in luciferase expression cloning; plasma bilirubin 0.61 mg/dl" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "likely pathogenic (!)" "" "0000910014" "3" "70" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "29/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "-3263T>G (c.-3275T>G)" "0.6 promoter activity in luciferase expression cloning" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "likely pathogenic (!)" "" "0000910016" "3" "70" "2" "234665659" "234665659" "=" "0" "00006" "UGT1A1_000109" "g.234665659=" "21/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "-3263T (c.-3275T)" "19/27 homozygous controls" "Germline" "" "" "0" "" "" "g.233757013=" "" "likely pathogenic (!)" "" "0000910017" "3" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "12/50 chromosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "A(TA)7TAA" "0/27 homozygote controls" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "likely pathogenic (!)" "" "0000910019" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "12/50 cchormosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "A(TA)7TAA" "1/27 heterozygous controls" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "likely pathogenic (!)" "" "0000910022" "3" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "18/50 cchormosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "G71R" "1/27 homozygous controls" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000910024" "1" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "18/50 cchormosomes hyperbilirubinemia" "{PMID:Sugatani 2002:11906189}" "" "G71R" "7/27 heterozygous controls" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000910025" "21" "90" "2" "234675692" "234675705" "delins" "0" "00006" "UGT1A1_000079" "g.234675692_234675705delinsA" "" "{PMID:Sappal 2002:11855932}" "" "877T>A/878-890del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000910026" "11" "90" "2" "234680907" "234680907" "subst" "0" "00006" "UGT1A1_000116" "g.234680907G>A" "" "{PMID:Sappal 2002:11855932}" "" "IVS4-1G>A" "effect on splicing predicted from expression cloning mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.233772261G>A" "" "pathogenic (recessive)" "" "0000910692" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Sappal 2002:11855932}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000910693" "3" "90" "2" "234669180" "234669180" "subst" "8.12236E-6" "00006" "UGT1A1_000008" "g.234669180T>C" "" "{PMID:Sutomo 2002:12139570}" "" "" "promoter A(TA)6TAA" "Germline" "yes" "" "0" "" "" "g.233760534T>C" "" "pathogenic" "" "0000910694" "1" "90" "2" "234669180" "234669180" "subst" "8.12236E-6" "00006" "UGT1A1_000008" "g.234669180T>C" "3/220 control chromosomes" "{PMID:Sutomo 2002:12139570}" "" "" "" "Germline" "" "" "0" "" "" "g.233760534T>C" "" "pathogenic" "" "0000910695" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "83/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "A(TA)7TAA" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000910696" "2" "70" "2" "234676872" "234676872" "subst" "0.00122649" "00006" "UGT1A1_000036" "g.234676872C>T" "12/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233768226C>T" "" "VUS" "" "0000910699" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "63/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "VUS (!)" "" "0000910701" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "63/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000910702" "2" "70" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "1/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000910703" "1" "90" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "16/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000910704" "2" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "63/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000910705" "0" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "83/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "A(TA)7TAA" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000910706" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "63/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000910707" "2" "70" "2" "234676872" "234676872" "subst" "0.00122649" "00006" "UGT1A1_000036" "g.234676872C>T" "12/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233768226C>T" "" "VUS" "" "0000910708" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "83/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "A(TA)7TAA" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000910709" "2" "70" "2" "234676872" "234676872" "subst" "0.00122649" "00006" "UGT1A1_000036" "g.234676872C>T" "12/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233768226C>T" "" "VUS" "" "0000910710" "0" "90" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "16/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000910711" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "83/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "A(TA)7TAA" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000910712" "2" "70" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "16/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000910713" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "83/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "A(TA)7TAA" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000910714" "2" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "63/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000910716" "1" "70" "2" "234676872" "234676872" "subst" "0.00122649" "00006" "UGT1A1_000036" "g.234676872C>T" "12/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233768226C>T" "" "VUS" "" "0000910717" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "83/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "A(TA)7TAA" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000910719" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "63/580 control chromosomes" "{PMID:Huang 2000:10975608}" "" "" "correlates with increased serum bilirubin level" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000916774" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Costa 2006:16269258}" "" "[TA]7" "combined serum bilurubin level 32 umol/l" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916775" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Costa 2006:16269258}" "" "[TA]7" "combined serum bilurubin level 61 umol/l" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916776" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Costa 2006:16269258}" "" "[TA]7" "no variant 2nd chromosome; combined serum bilurubin level 48 umol/l" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916777" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Costa 2006:16269258}" "" "[TA]7" "combined serum bilurubin level 39 umol/l" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916778" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Costa 2006:16269258}" "" "[TA]7" "combined serum bilurubin level 60 umol/l" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916779" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Costa 2006:16269258}" "" "[TA]7" "unknown variant 2nd chromosome; combined serum bilurubin level 47 umol/l" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916780" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Costa 2006:16269258}" "" "[TA]7" "combined serum bilurubin level 108 umol/l" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916781" "2" "90" "2" "234675738" "234675738" "subst" "1.23084E-5" "00006" "UGT1A1_000027" "g.234675738G>A" "" "{PMID:Costa 2006:16269258}" "" "" "combined serum bilurubin level 61 umol/l" "Germline" "" "" "0" "" "" "g.233767092G>A" "" "pathogenic (recessive)" "" "0000916782" "1" "90" "2" "234669607" "234669607" "subst" "0.000601069" "00006" "UGT1A1_000010" "g.234669607T>G" "" "{PMID:Costa 2006:16269258}" "" "" "combined serum bilurubin level 48 umol/l" "De novo" "" "" "0" "" "" "g.233760961T>G" "" "pathogenic (recessive)" "" "0000916783" "1" "90" "2" "234669421" "234669424" "dup" "0" "00006" "UGT1A1_000124" "g.234669421_234669424dup" "" "{PMID:Costa 2006:16269258}" "" "488_491dupACCT" "combined serum bilurubin level 39 umol/l" "Germline" "" "" "0" "" "" "g.233760775_233760778dup" "" "pathogenic (recessive)" "" "0000916784" "2" "90" "2" "234668891" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668891_234668894dup" "" "{PMID:Costa 2006:16269258}" "" "[TA]8" "combined serum bilurubin level 60 umol/l" "Germline" "" "" "0" "" "" "g.233760245_233760248dup" "" "pathogenic (recessive)" "" "0000916785" "2" "90" "2" "234675738" "234675738" "subst" "1.23084E-5" "00006" "UGT1A1_000027" "g.234675738G>A" "" "{PMID:Costa 2006:16269258}" "" "" "combined serum bilurubin level 108 umol/l" "Germline" "" "" "0" "" "" "g.233767092G>A" "" "pathogenic (recessive)" "" "0000916786" "0" "10" "2" "234676413" "234676413" "subst" "0" "00006" "UGT1A1_000117" "g.234676413T>C" "0.30 in 100 control individuals" "{PMID:Costa 2006:16269258}" "" "" "" "Germline" "" "" "0" "" "" "g.233767767T>C" "" "benign" "" "0000916787" "1" "90" "2" "234668849" "234668851" "dup" "0" "00006" "UGT1A1_000109" "g.234668849_234668851dup" "6/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "-85_-83insCAT" "combination of variants not reported; 20-fold decreased promoter activity in luciferase reporter assay; not in 100 controls" "Germline" "" "" "0" "" "" "g.233760203_233760205dup" "" "VUS (!)" "" "0000916788" "1" "10" "2" "234668871" "234668871" "subst" "0" "00006" "UGT1A1_000109" "g.234668871C>G" "2/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "-63C>G" "combination of variants not reported; not in 100 controls" "Germline" "" "" "0" "" "" "g.233760225G>C" "" "likely benign" "" "0000916789" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668893_234668894dup" "15/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "(TA)7TAA" "combination of variants not reported; 2-fold decreased promoter activity in luciferase reporter assay; un-conjugated bilirubin 3.46 mg/dL" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916790" "1" "10" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "9/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "G>A (G71R)" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "likely benign" "" "0000916791" "1" "10" "2" "234669409" "234669409" "subst" "9.74841E-5" "00006" "UGT1A1_000123" "g.234669409T>C" "2/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "T>C (I159T" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.233760763T>C" "" "likely benign" "" "0000916792" "1" "50" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "1/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "T>C (R209W)" "combination of variants not reported; not in 100 controls" "Germline" "" "" "0" "" "" "g.233760912C>T" "" "VUS" "" "0000916793" "1" "10" "2" "234675779" "234675779" "subst" "0.00189944" "00006" "UGT1A1_000028" "g.234675779A>G" "7/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "A>G (I322V)" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.233767133A>G" "" "likely benign" "" "0000916794" "1" "10" "2" "234676573" "234676573" "subst" "2.0509E-5" "00006" "UGT1A1_000118" "g.234676573G>A" "1/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "G>A (D359N)" "combination of variants not reported; not in 100 controls" "Germline" "" "" "0" "" "" "g.233767927G>A" "" "likely benign" "" "0000916795" "1" "10" "2" "234676872" "234676872" "subst" "0.00122649" "00006" "UGT1A1_000036" "g.234676872C>T" "2/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "C>T (P364L)" "combination of variants not reported; not in 100 controls" "Germline" "" "" "0" "" "" "g.233768226C>T" "" "likely benign" "" "0000916796" "1" "50" "2" "234676908" "234676908" "subst" "0" "00006" "UGT1A1_000119" "g.234676908A>G" "3/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "A>G (H376R)" "combination of variants not reported; not in 100 controls" "Germline" "" "" "0" "" "" "g.233768262A>G" "" "VUS" "" "0000916797" "3" "70" "2" "234668849" "234668851" "dup" "0" "00006" "UGT1A1_000109" "g.234668849_234668851dup" "3/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "-85_-83insCAT" "20-fold decreased promoter activity in luciferase reporter assay; not in 100 controls" "Germline" "" "" "0" "" "" "g.233760203_233760205dup" "" "VUS (!)" "" "0000916798" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668893_234668894dup" "76/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "(TA)7TAA" "2-fold decreased promoter activity in luciferase reporter assay; un-conjugated bilirubin 3.31 mg/dL" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916799" "3" "10" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "1/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "G>A (G71R)" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "likely benign" "" "0000916800" "3" "10" "2" "234675777" "234675777" "subst" "0" "00006" "UGT1A1_000130" "g.234675777C>G" "95/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "C>G (A321G) C6844G" "" "Germline" "" "" "0" "" "" "g.233767131C>G" "" "likely benign" "" "0000916801" "3" "10" "2" "234675779" "234675779" "subst" "0.00189944" "00006" "UGT1A1_000028" "g.234675779A>G" "1/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "A>G (I322V)" "" "Germline" "" "" "0" "" "" "g.233767133A>G" "" "likely benign" "" "0000916806" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668893_234668894dup" "10/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "(TA)7TAA" "2-fold decreased promoter activity in luciferase reporter assay; un-conjugated bilirubin 0.64 mg/dL" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916807" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668893_234668894dup" "53/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "(TA)7TAA" "combination of variants not reported; 2-fold decreased promoter activity in luciferase reporter assay; un-conjugated bilirubin 0.59 mg/dL" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS (!)" "" "0000916808" "1" "10" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "5/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "G>A (G71R)" "combination of variants not reported; 0/95 homozygotes" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "likely benign" "" "0000916809" "1" "10" "2" "234669409" "234669409" "subst" "9.74841E-5" "00006" "UGT1A1_000123" "g.234669409T>C" "1/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "T>C (I159T" "combination of variants not reported; 0/95 homozygotes" "Germline" "" "" "0" "" "" "g.233760763T>C" "" "likely benign" "" "0000916810" "3" "10" "2" "234675777" "234675777" "subst" "0" "00006" "UGT1A1_000130" "g.234675777C>G" "66/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "C>G (A321G) C6844G" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.233767131C>G" "" "likely benign" "" "0000916811" "1" "10" "2" "234675777" "234675777" "subst" "0" "00006" "UGT1A1_000130" "g.234675777C>G" "29/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "C>G (A321G) C6844G" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.233767131C>G" "" "likely benign" "" "0000916812" "1" "10" "2" "234675779" "234675779" "subst" "0.00189944" "00006" "UGT1A1_000028" "g.234675779A>G" "6/95 cases Gilbert syndrome" "{PMID:Farheen 2006:16610035}" "" "A>G (I322V)" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.233767133A>G" "" "likely benign" "" "0000916813" "0" "30" "2" "234665593" "234665593" "del" "0" "00006" "UGT1A1_000109" "g.234665593del" "" "{PMID:Sai 2004:15179405}" "" "-3345delC (c.-3341delC)" "" "Germline" "" "" "0" "" "" "g.233756947del" "" "likely benign" "" "0000916814" "0" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "0.262" "{PMID:Sai 2004:15179405}" "" "-3279T>G (c.-3275T>G)" "associated with reduced transcription/increased plasma bilirubin levels (Japan); linked with -3156G>A, -364C>T, -40_-39insTA" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000916815" "0" "30" "2" "234665761" "234665761" "subst" "0" "00006" "UGT1A1_000109" "g.234665761C>G" "" "{PMID:Sai 2004:15179405}" "" "-3177C>G (c.-3173C>G)" "linked with -3175A>G, -64G>C" "Germline" "" "" "0" "" "" "g.233757115C>G" "" "likely benign" "" "0000916816" "0" "30" "2" "234665763" "234665763" "subst" "0" "00006" "UGT1A1_000109" "g.234665763A>G" "" "{PMID:Sai 2004:15179405}" "" "-3175A>G (c.-3171A>G)" "linked with -3177C>G, -64G>C" "Germline" "" "" "0" "" "" "g.233757117A>G" "" "likely benign" "" "0000916817" "0" "30" "2" "234665782" "234665782" "subst" "0" "00006" "UGT1A1_000109" "g.234665782G>A" "" "{PMID:Sai 2004:15179405}" "" "-3156G>A (c.-3152G>A)" "linked with -3279T>G, -364C>T, -40_-39insTA" "Germline" "" "" "0" "" "" "g.233757136G>A" "" "likely benign" "" "0000916818" "0" "30" "2" "234668570" "234668570" "subst" "0" "00006" "UGT1A1_000115" "g.234668570C>T" "" "{PMID:Sai 2004:15179405}" "" "" "linked with -3279T>G, -3156G>A, -40_-39insTA" "Germline" "" "" "0" "" "" "g.233759924C>T" "" "likely benign" "" "0000916819" "0" "30" "2" "234668870" "234668870" "subst" "0" "00006" "UGT1A1_000120" "g.234668870G>C" "" "{PMID:Sai 2004:15179405}" "" "" "linked with -3177C>G, -3175A>G" "Germline" "" "" "0" "" "" "g.233760224G>C" "" "likely benign" "" "0000916820" "0" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "0.131" "{PMID:Sai 2004:15179405}" "" "-40_-39insTA" "associated with reduced transcription/increased plasma bilirubin levels; linked with -3279T>G, -3156G>A, -364C>T" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916821" "0" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "0.151" "{PMID:Sai 2004:15179405}" "" "" "associated with increased plasma bilirubin levels" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "association" "" "0000916822" "0" "30" "2" "234669311" "234669311" "subst" "5.68611E-5" "00006" "UGT1A1_000121" "g.234669311C>T" "" "{PMID:Sai 2004:15179405}" "" "" "" "Germline" "" "" "0" "" "" "g.233760665C>T" "" "likely benign" "" "0000916823" "0" "30" "2" "234669353" "234669353" "subst" "0" "00006" "UGT1A1_000122" "g.234669353G>A" "" "{PMID:Sai 2004:15179405}" "" "" "" "Germline" "" "" "0" "" "" "g.233760707G>A" "" "likely benign" "" "0000916824" "0" "90" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "0.005" "{PMID:Sai 2004:15179405}" "" "" "associated with increased plasma bilirubin levels" "Germline" "" "" "0" "" "" "g.233760973C>A" "" "association" "" "0000916825" "0" "30" "2" "234675523" "234675523" "subst" "0" "00006" "UGT1A1_000127" "g.234675523C>A" "" "{PMID:Sai 2004:15179405}" "" "IVS1-157C>A" "" "Germline" "" "" "0" "" "" "g.233766877C>A" "" "likely benign" "" "0000916826" "0" "30" "2" "234675608" "234675608" "subst" "0" "00006" "UGT1A1_000128" "g.234675608T>G" "" "{PMID:Sai 2004:15179405}" "" "IVS1-72T>G" "" "Germline" "" "" "0" "" "" "g.233766962T>G" "" "likely benign" "" "0000916827" "0" "30" "2" "234675628" "234675628" "subst" "0" "00006" "UGT1A1_000129" "g.234675628T>C" "" "{PMID:Sai 2004:15179405}" "" "IVS1-52T>C" "" "Germline" "" "" "0" "" "" "g.233766982T>C" "" "likely benign" "" "0000916828" "0" "30" "2" "234675826" "234675826" "subst" "0.00307073" "00006" "UGT1A1_000029" "g.234675826T>C" "" "{PMID:Sai 2004:15179405}" "" "IVS2+15T>C" "" "Germline" "" "" "0" "" "" "g.233767180T>C" "" "likely benign" "" "0000916829" "0" "30" "2" "234675829" "234675829" "subst" "0.00923052" "00006" "UGT1A1_000030" "g.234675829C>T" "" "{PMID:Sai 2004:15179405}" "" "IVS2+18C>T" "" "Germline" "" "" "0" "" "" "g.233767183C>T" "" "likely benign" "" "0000916830" "0" "30" "2" "234676413" "234676413" "subst" "0" "00006" "UGT1A1_000117" "g.234676413T>C" "" "{PMID:Sai 2004:15179405}" "" "IVS2-82T>C" "" "Germline" "" "" "0" "" "" "g.233767767T>C" "" "likely benign" "" "0000916831" "0" "50" "2" "234676872" "234676872" "subst" "0.00122649" "00006" "UGT1A1_000036" "g.234676872C>T" "" "{PMID:Sai 2004:15179405}" "" "" "" "Germline" "" "" "0" "" "" "g.233768226C>T" "" "VUS" "" "0000916832" "0" "30" "2" "234680679" "234680679" "subst" "0" "00006" "UGT1A1_000133" "g.234680679A>C" "" "{PMID:Sai 2004:15179405}" "" "IVS4-229A>C" "" "Germline" "" "" "0" "" "" "g.233772033A>C" "" "likely benign" "" "0000916833" "0" "50" "2" "234681201" "234681201" "subst" "0" "00006" "UGT1A1_000137" "g.234681201A>C" "" "{PMID:Sai 2004:15179405}" "" "1598A>C" "" "Germline" "" "" "0" "" "" "g.233772555A>C" "" "VUS" "" "0000916834" "1" "30" "2" "234681416" "234681416" "subst" "0" "00006" "UGT1A1_000072" "g.234681416T>C" "" "{PMID:Sai 2004:15179405}" "" "1813C>T" "linked with 1941C>G, 2042C>G" "Germline" "" "" "0" "" "" "g.233772770T>C" "" "likely benign" "" "0000916835" "1" "30" "2" "234681544" "234681544" "subst" "0" "00006" "UGT1A1_000073" "g.234681544G>C" "" "{PMID:Sai 2004:15179405}" "" "1941C>G" "linked with 1813C>T, 2042C>G" "Germline" "" "" "0" "" "" "g.233772898G>C" "" "likely benign" "" "0000916836" "0" "30" "2" "234681624" "234681624" "subst" "0" "00006" "UGT1A1_000138" "g.234681624T>C" "" "{PMID:Sai 2004:15179405}" "" "2021T>C" "" "Germline" "" "" "0" "" "" "g.233772978T>C" "" "likely benign" "" "0000916837" "1" "30" "2" "234681645" "234681645" "subst" "0" "00006" "UGT1A1_000074" "g.234681645G>C" "" "{PMID:Sai 2004:15179405}" "" "2042C>G" "linked with 1813C>T, 1941C>G" "Germline" "" "" "0" "" "" "g.233772999G>C" "" "likely benign" "" "0000916838" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659G>T" "" "{PMID:Innocenti 2002:12464801}" "" "-3279G>T (c.-3275G>T)" "" "Germline" "" "" "0" "" "" "g.233757013G>T" "" "association" "" "0000916839" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659G>T" "" "{PMID:Innocenti 2002:12464801}" "" "-3280G>T (c.-3275G>T)" "" "Germline" "" "" "0" "" "" "g.233757013G>T" "" "association" "" "0000916840" "1" "30" "2" "234665498" "234665498" "subst" "0" "00006" "UGT1A1_000109" "g.234665498C>A" "" "{PMID:Innocenti 2002:12464801}" "" "-3440C>A (c.-3436C>A)" "" "Germline" "" "" "0" "" "" "g.233756852C>A" "" "likely benign" "" "0000916841" "1" "30" "2" "234665498" "234665498" "subst" "0" "00006" "UGT1A1_000109" "g.234665498C>A" "" "{PMID:Innocenti 2002:12464801}" "" "-3440C>A (c.-3436C>A)" "" "Germline" "" "" "0" "" "" "g.233756852C>A" "" "likely benign" "" "0000916842" "1" "30" "2" "234665537" "234665537" "subst" "0" "00006" "UGT1A1_000109" "g.234665537T>C" "" "{PMID:Innocenti 2002:12464801}" "" "-3401T>C c.-3397T>C)" "" "Germline" "" "" "0" "" "" "g.233756891T>C" "" "likely benign" "" "0000916843" "1" "30" "2" "234665761" "234665761" "subst" "0" "00006" "UGT1A1_000109" "g.234665761C>G" "" "{PMID:Innocenti 2002:12464801}" "" "-3156G>A (c.-3152G>A)" "" "Germline" "" "" "0" "" "" "g.233757115C>G" "" "likely benign" "" "0000916844" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Innocenti 2002:12464801}" "" "(TA)7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916845" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Innocenti 2002:12464801}" "" "(TA)7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916846" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Innocenti 2002:12464801}" "" "(TA)7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916847" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Innocenti 2002:12464801}" "" "(TA)7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916848" "1" "30" "2" "234665498" "234665498" "subst" "0" "00006" "UGT1A1_000109" "g.234665498C>A" "" "{PMID:Innocenti 2002:12464801}" "" "-3177C>G (c.-3173C>G)" "" "Germline" "" "" "0" "" "" "g.233756852C>A" "" "likely benign" "" "0000916849" "1" "90" "2" "234668891" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668891_234668894dup" "" "{PMID:Innocenti 2002:12464801}" "" "(TA)8" "" "Germline" "" "" "0" "" "" "g.233760245_233760248dup" "" "association" "" "0000916850" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "" "{PMID:Innocenti 2002:12464801}" "" "(TA)5" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000916851" "1" "90" "2" "234668891" "234668894" "dup" "0" "00006" "UGT1A1_000110" "g.234668891_234668894dup" "" "{PMID:Innocenti 2002:12464801}" "" "(TA)8" "" "Germline" "" "" "0" "" "" "g.233760245_233760248dup" "" "association" "" "0000916852" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "" "{PMID:Innocenti 2002:12464801}" "" "(TA)5" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000916853" "1" "30" "2" "234665761" "234665761" "subst" "0" "00006" "UGT1A1_000109" "g.234665761C>G" "" "{PMID:Innocenti 2002:12464801}" "" "-3156G>A (c.-3152G>A)" "" "Germline" "" "" "0" "" "" "g.233757115C>G" "" "likely benign" "" "0000916854" "1" "30" "2" "234665761" "234665761" "subst" "0" "00006" "UGT1A1_000109" "g.234665761C>G" "" "{PMID:Innocenti 2002:12464801}" "" "-3156G>A (c.-3152G>A)" "" "Germline" "" "" "0" "" "" "g.233757115C>G" "" "likely benign" "" "0000916855" "1" "30" "2" "234665537" "234665537" "subst" "0" "00006" "UGT1A1_000109" "g.234665537T>C" "" "{PMID:Innocenti 2002:12464801}" "" "-3175A>G (c.-3171A>G)" "" "Germline" "" "" "0" "" "" "g.233756891T>C" "" "likely benign" "" "0000916856" "1" "30" "2" "234665761" "234665761" "subst" "0" "00006" "UGT1A1_000109" "g.234665761C>G" "" "{PMID:Innocenti 2002:12464801}" "" "-3156G>A (c.-3152G>A)" "" "Germline" "" "" "0" "" "" "g.233757115C>G" "" "likely benign" "" "0000916857" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Innocenti 2002:12464801}" "" "(TA)7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916864" "3" "90" "2" "234669446" "234669448" "del" "0" "00006" "UGT1A1_000082" "g.234669446_234669448del" "" "{PMID:Ritter 1993:8226884}" "" "508-510del (F170del)" "" "Germline" "" "" "0" "" "" "g.233760800_233760802del" "" "pathogenic (recessive)" "" "0000916865" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Iolascon 2000:11182932}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916866" "21" "90" "2" "234669607" "234669607" "subst" "0.000601069" "00006" "UGT1A1_000010" "g.234669607T>G" "" "{PMID:Iolascon 2000:11182932}" "" "T>G (V224G)" "" "Germline" "" "" "0" "" "" "g.233760961T>G" "" "pathogenic (recessive)" "" "0000916867" "11" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Iolascon 2000:11182932}" "" "AGdel (codon238-240)" "" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000916868" "3" "90" "2" "234675692" "234675705" "delins" "0" "00006" "UGT1A1_000079" "g.234675692_234675705delinsA" "" "{PMID:Ritter 1992:1634606}" "" "877T>A;878-890del" "no UGT1A1 activity" "Germline" "" "" "0" "" "" "g.233767046_233767059delinsA" "" "pathogenic (recessive)" "" "0000916869" "1" "90" "2" "234675692" "234675705" "delins" "0" "00006" "UGT1A1_000079" "g.234675692_234675705delinsA" "" "{PMID:Servedio 2005:15712364}" "" "877T>A+878_890del (I294_S297delY293MfsX68)" "" "Germline" "" "" "0" "" "" "g.233767046_233767059delinsA" "" "pathogenic (recessive)" "" "0000916870" "3" "90" "2" "234675692" "234675705" "delins" "0" "00006" "UGT1A1_000079" "g.234675692_234675705delinsA" "" "{PMID:Servedio 2005:15712364}" "" "877T>A+878_890del (I294_S297delY293MfsX68)" "" "Germline" "" "" "0" "" "" "g.233767046_233767059delinsA" "" "pathogenic (recessive)" "" "0000916871" "3" "90" "2" "234675692" "234675705" "delins" "0" "00006" "UGT1A1_000079" "g.234675692_234675705delinsA" "" "{PMID:Servedio 2005:15712364}" "" "877T>A+878_890del (I294_S297delY293MfsX68)" "" "Germline" "" "" "0" "" "" "g.233767046_233767059delinsA" "" "pathogenic (recessive)" "" "0000916872" "3" "90" "2" "234675692" "234675705" "delins" "0" "00006" "UGT1A1_000079" "g.234675692_234675705delinsA" "" "{PMID:Servedio 2005:15712364}" "" "877T>A+878_890del (I294_S297delY293MfsX68)" "" "Germline" "" "" "0" "" "" "g.233767046_233767059delinsA" "" "pathogenic (recessive)" "" "0000916873" "3" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Servedio 2005:15712364}" "" "717_718delAG (Q239fsX256)" "" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000916874" "3" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Servedio 2005:15712364}" "" "717_718delAG (Q239fsX256)" "" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000916875" "3" "90" "2" "234676568" "234676568" "subst" "4.10179E-6" "00006" "UGT1A1_000035" "g.234676568A>G" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233767922A>G" "" "pathogenic (recessive)" "" "0000916876" "3" "90" "2" "234676965" "234676965" "subst" "1.64074E-5" "00006" "UGT1A1_000163" "g.234676965G>T" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233768319G>T" "" "pathogenic (recessive)" "" "0000916877" "1" "90" "2" "234676940" "234676940" "subst" "0" "00006" "UGT1A1_000162" "g.234676940C>T" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233768294C>T" "" "pathogenic (recessive)" "" "0000916878" "1" "90" "2" "234676911" "234676911" "subst" "0" "00006" "UGT1A1_000132" "g.234676911G>T" "" "{PMID:Servedio 2005:15712364}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.233768265G>T" "" "pathogenic" "" "0000916879" "1" "90" "2" "234676505" "234676505" "subst" "1.64078E-5" "00006" "UGT1A1_000158" "g.234676505G>A" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233767859G>A" "" "pathogenic (recessive)" "" "0000916880" "3" "90" "2" "234669734" "234669734" "del" "0" "00006" "UGT1A1_000154" "g.234669734del" "" "{PMID:Servedio 2005:15712364}" "" "801delC" "" "Germline" "" "" "0" "" "" "g.233761088del" "" "pathogenic (recessive)" "" "0000916881" "3" "90" "2" "234680984" "234680984" "subst" "0" "00006" "UGT1A1_000081" "g.234680984T>C" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233772338T>C" "" "pathogenic (recessive)" "" "0000916882" "1" "90" "2" "234669509" "234669509" "subst" "0" "00006" "UGT1A1_000152" "g.234669509C>G" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233760863C>G" "" "pathogenic (recessive)" "" "0000916883" "3" "90" "2" "234675692" "234675705" "delins" "0" "00006" "UGT1A1_000079" "g.234675692_234675705delinsA" "" "{PMID:Servedio 2005:15712364}" "" "877T>A+878_890del (I294_S297delY293MfsX68)" "" "Germline" "" "" "0" "" "" "g.233767046_233767059delinsA" "" "pathogenic (recessive)" "" "0000916884" "1" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Servedio 2005:15712364}" "" "717_718delAG (Q239fsX256)" "" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000916885" "1" "90" "2" "234669607" "234669607" "subst" "0.000601069" "00006" "UGT1A1_000010" "g.234669607T>G" "" "{PMID:Servedio 2005:15712364}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.233760961T>G" "" "pathogenic" "" "0000916886" "1" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Servedio 2005:15712364}" "" "717_718delAG (Q239fsX256)" "" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000916887" "1" "90" "2" "234675692" "234675705" "delins" "0" "00006" "UGT1A1_000079" "g.234675692_234675705delinsA" "" "{PMID:Servedio 2005:15712364}" "" "877T>A+878_890del (I294_S297delY293MfsX68)" "" "Germline" "" "" "0" "" "" "g.233767046_233767059delinsA" "" "pathogenic (recessive)" "" "0000916888" "1" "90" "2" "234676504" "234676504" "subst" "4.10182E-6" "00006" "UGT1A1_000034" "g.234676504C>T" "" "{PMID:Servedio 2005:15712364}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.233767858C>T" "" "pathogenic" "" "0000916889" "1" "90" "2" "234676504" "234676504" "subst" "4.10182E-6" "00006" "UGT1A1_000034" "g.234676504C>T" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233767858C>T" "" "pathogenic (recessive)" "" "0000916890" "1" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Servedio 2005:15712364}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.233760912C>T" "" "pathogenic" "" "0000916891" "1" "90" "2" "234669034" "234669034" "subst" "0" "00006" "UGT1A1_000004" "g.234669034C>A" "" "{PMID:Servedio 2005:15712364}" "" "111C>A (P34Q)" "" "Germline" "" "" "0" "" "" "g.233760388C>A" "" "pathogenic (recessive)" "" "0000916892" "3" "90" "2" "234669446" "234669448" "del" "0" "00006" "UGT1A1_000082" "g.234669446_234669448del" "" "{PMID:Servedio 2005:15712364}" "" "508_510delTTC (F170del)" "" "Germline" "" "" "0" "" "" "g.233760800_233760802del" "" "pathogenic (recessive)" "" "0000916893" "1" "90" "2" "234675679" "234675679" "subst" "4.10391E-6" "00006" "UGT1A1_000156" "g.234675679G>A" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233767033G>A" "" "pathogenic (recessive)" "" "0000916894" "1" "90" "2" "234676504" "234676504" "subst" "4.10182E-6" "00006" "UGT1A1_000034" "g.234676504C>T" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233767858C>T" "" "pathogenic (recessive)" "" "0000916895" "1" "90" "2" "234675693" "234675705" "del" "0" "00006" "UGT1A1_000157" "g.234675693_234675705del" "" "{PMID:Servedio 2005:15712364}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.233767047_233767059del" "" "pathogenic" "" "0000916896" "1" "90" "2" "234676911" "234676911" "subst" "0" "00006" "UGT1A1_000132" "g.234676911G>T" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233768265G>T" "" "pathogenic (recessive)" "" "0000916897" "3" "90" "2" "234681036" "234681036" "subst" "0" "00006" "UGT1A1_000165" "g.234681036C>A" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233772390C>A" "" "pathogenic (recessive)" "" "0000916898" "1" "90" "2" "234675693" "234675705" "del" "0" "00006" "UGT1A1_000157" "g.234675693_234675705del" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233767047_233767059del" "" "pathogenic (recessive)" "" "0000916899" "1" "90" "2" "234669509" "234669509" "subst" "0" "00006" "UGT1A1_000152" "g.234669509C>G" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233760863C>G" "" "pathogenic (recessive)" "" "0000916900" "2" "90" "2" "234676505" "234676505" "subst" "1.64078E-5" "00006" "UGT1A1_000158" "g.234676505G>A" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233767859G>A" "" "pathogenic (recessive)" "" "0000916901" "2" "90" "2" "234676965" "234676965" "subst" "1.64074E-5" "00006" "UGT1A1_000163" "g.234676965G>T" "" "{PMID:Servedio 2005:15712364}" "" "" "" "Germline" "" "" "0" "" "" "g.233768319G>T" "" "pathogenic (recessive)" "" "0000916902" "2" "90" "2" "234676905" "234676905" "subst" "0" "00006" "UGT1A1_000097" "g.234676905C>T" "" "{PMID:Servedio 2005:15712364}" "" "" 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"" "pathogenic (recessive)" "" "0000916960" "3" "90" "2" "234669487" "234669487" "subst" "0" "00006" "UGT1A1_000151" "g.234669487A>C" "" "{PMID:Petit 2006:16712705}" "" "" "" "Germline" "" "" "0" "" "" "g.233760841A>C" "" "pathogenic (recessive)" "" "0000916961" "3" "90" "2" "234668934" "234668934" "subst" "0" "00006" "UGT1A1_000002" "g.234668934A>G" "" "{PMID:Petit 2006:16712705}" "" "" "" "Germline" "" "" "0" "" "" "g.233760288A>G" "" "pathogenic (recessive)" "" "0000916962" "3" "50" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Petit 2006:16712705}" "" "211G>A; 1456T>G" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "VUS" "" "0000916963" "2" "90" "2" "234677004" "234677004" "dup" "0" "00006" "UGT1A1_000092" "g.234677004dup" "" "{PMID:Petit 2006:16712705}" "" "1223-1224insG (Ala429SerfsX13)" "" "Germline" "" "" "0" "" "" "g.233768358dup" "" "pathogenic (recessive)" "" "0000916964" "2" "90" "2" "234677004" "234677004" "dup" "0" 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"Germline" "" "" "0" "" "" "g.233768440G>T" "" "pathogenic (recessive)" "" "0000916969" "2" "90" "2" "234675679" "234675679" "subst" "4.10391E-6" "00006" "UGT1A1_000156" "g.234675679G>A" "" "{PMID:Petit 2006:16712705}" "" "" "" "Germline" "" "" "0" "" "" "g.233767033G>A" "" "pathogenic (recessive)" "" "0000916970" "3" "50" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "{PMID:Petit 2006:16712705}" "" "211G>A;1456T>G" "" "Germline" "" "" "0" "" "" "g.233772413T>G" "" "VUS" "" "0000916971" "0" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Petit 2006:16712705}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916972" "0" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Petit 2006:16712705}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916973" "0" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Petit 2006:16712705}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916974" "0" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Petit 2006:16712705}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916975" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Petit 2006:16712705}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916976" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Petit 2006:16712705}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000916978" "0" "30" "2" "234667809" "234667809" "subst" "0" "00006" "UGT1A1_000109" "g.234667809C>T" "0.04" "{PMID:Costa 2006:16269258}" "" "-1126C>T" "" "Germline" "" "rs28899472" "0" "" "" "g.233759163C>T" "" "likely benign" "" "0000916979" "3" "90" "2" "234676905" "234676905" "subst" "0" "00006" "UGT1A1_000097" "g.234676905C>T" "" "{PMID:Bosma 1992:1634050}" "" "ex4 C>T (Ser>Phe)" "UGT1A1 inactive" "Germline" "" "" "0" "" "" "g.233768259C>T" "" "pathogenic (recessive)" "" "0000916980" "3" "90" "2" "234675806" "234675806" "subst" "0" "00006" "UGT1A1_000139" "g.234675806C>T" "" "{PMID:Bosma 1992:1634050}" "" "" "" "Germline" "" "" "0" "" "" "g.233767160C>T" "" "pathogenic (recessive)" "" "0000917031" "3" "90" "2" "234676905" "234676905" "subst" "0" "00006" "UGT1A1_000097" "g.234676905C>T" "" "{PMID:Erps 1994:7906695}" "" "" "" "Germline" "" "" "0" "" "" "g.233768259C>T" "" "pathogenic (recessive)" "" "0000917032" "3" "90" "2" "234676567" "234676567" "subst" "0" "00006" "UGT1A1_000090" "g.234676567C>T" "" "{PMID:Bosma 1992:1568736}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917033" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Aono 1993:8280139}" "" "" "reduced activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000917034" "3" "30" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "{PMID:Aono 1993:8280139}" "" "" "" "Germline" "" "" "0" "" "" "g.233772413T>G" "" "likely benign" "" "0000917035" "3" "90" "2" "234675807" "234675807" "subst" "4.103E-6" "00006" "UGT1A1_000140" "g.234675807A>G" "" "{PMID:Moghrabi 1993:8276413}" "" "" "reduced activity" "Germline" "" "" "0" "" "" "g.233767161A>G" "" "likely pathogenic (recessive)" "" "0000917036" "3" "90" "2" "234676519" "234676519" "subst" "2.8713E-5" "00006" "UGT1A1_000080" "g.234676519C>T" "" "{PMID:Moghrabi 1993:8102509}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917037" "3" "90" "2" "234675738" "234675738" "subst" "1.23084E-5" "00006" "UGT1A1_000027" "g.234675738G>A" "" "{PMID:Erps 1994:7906695}" "" "" "" "Germline" "" "" "0" "" "" "g.233767092G>A" "" "pathogenic (recessive)" "" "0000917038" "2" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Bosma 1995:7565971}" "" "A(TA)7TAA" "significantly higher serum bilirubin 1.6mg/dl" "Germline" "yes" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917039" "1" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Bosma 1993:8514037}, {PMID:Bosma 1995:7565971}" "" "promoter A(TA)6TAA" "significantly higher serum bilirubin 1.6mg/dl" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917040" "1" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Bosma 1995:7565971}" "" "promoter A(TA)6TAA (homozygous)" "slightly higher serum bilirubin 0.6 mg/dl" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917041" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Bosma 1995:7565971}" "" "A(TA)7TAA" "slightly higher serum bilirubin 0.5 mg/dl" "Germline" "yes" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917042" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Bosma 1995:7565971}" "" "A(TA)7TAA" "luciferase reporter assay shows reduced promoter activity" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917043" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "8/55 controls" "{PMID:Bosma 1995:7565971}" "" "A(TA)7TAA" "luciferase reporter assay shows reduced promoter activity" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917044" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "29/55 control individuals" "{PMID:Bosma 1995:7565971}" "" "A(TA)7TAA" "luciferase reporter assay shows reduced promoter activity" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917045" "3" "90" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "{PMID:Nakagawa 2011:22169899}" "" "promoter A(TA)6TAA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000917046" "1" "70" "2" "234681080" "234681080" "subst" "0" "00006" "UGT1A1_000141" "g.234681080G>C" "1/55 cases hyperbilirubinemia" "{PMID:Yusoff 2006:16210851}" "" "" "no homozygotes, not in 50 controls" "Germline" "" "" "0" "" "" "g.233772434G>C" "" "likely pathogenic" "" "0000917047" "1" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "3/55 cases hyperbilirubinemia" "{PMID:Yusoff 2006:16210851}" "" "" "no homozygotes" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000917048" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "10/55 cases hyperbilirubinemia" "{PMID:Yusoff 2006:16210851}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917049" "3" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "4/55 cases hyperbilirubinemia" "{PMID:Yusoff 2006:16210851}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917050" "3" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "1/50 controls" "{PMID:Yusoff 2006:16210851}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917051" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "6/50 controls" "{PMID:Yusoff 2006:16210851}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917052" "1" "70" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "3/50 controls" "{PMID:Yusoff 2006:16210851}" "" "" "no homozygotes" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000917203" "3" "90" "2" "234669542" "234669565" "del" "0" "00006" "UGT1A1_000142" "g.234669542_234669565del" "" "{PMID:Costa 2008:18846625}" "" "" "" "Germline" "" "" "0" "" "" "g.233760896_233760919del" "" "pathogenic (recessive)" "" "0000917204" "3" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Zmetakova 2007:18281749}" "" "1220delA" "" "Germline" "yes" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000917205" "1" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Zmetakova 2007:18281749}" "" "717-718delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917206" "2" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Zmetakova 2007:18281749}" "" "1220delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917207" "3" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Zmetakova 2007:18281749}" "" "717-718delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917208" "1" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Zmetakova 2007:18281749}" "" "717-718delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917209" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Zmetakova 2007:18281749}" "" "TAins" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917210" "3" "50" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "" "{PMID:Zmetakova 2007:18281749}" "" "T3279G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917211" "1" "90" "2" "234669078" "234669078" "subst" "0" "00006" "UGT1A1_000017" "g.234669078C>T" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760432C>T" "" "pathogenic (recessive)" "" "0000917212" "1" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Sneitz 2010:19830808}" "" "1220delA, TA6" "" "Germline" "" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000917213" "3" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Sneitz 2010:19830808}" "" "1220delA, TA6" "" "Germline" "" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000917214" "3" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Sneitz 2010:19830808}" "" "1220delA, TA6" "" "Germline" "" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000917215" "3" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Sneitz 2010:19830808}" "" "1220delA, TA6" "" "Germline" "" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000917216" "3" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Sneitz 2010:19830808}" "" "1220delA, TA6" "" "Germline" "" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000917217" "3" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Sneitz 2010:19830808}" "" "1220delA, TA6" "" "Germline" "" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000917218" "3" "90" "2" "234676986" "234676986" "subst" "0" "00006" "UGT1A1_000042" "g.234676986A>C" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233768340A>C" "" "pathogenic (recessive)" "" "0000917219" "3" "90" "2" "234668977" "234668977" "subst" "0" "00006" "UGT1A1_000003" "g.234668977T>G" "" "{PMID:Sneitz 2010:19830808}" "" "" "" "Germline" "" "" "0" "" "" "g.233760331T>G" "" "pathogenic (recessive)" "" "0000917220" "1" "90" "2" "234668977" "234668977" "subst" "0" "00006" "UGT1A1_000003" "g.234668977T>G" "" "{PMID:Sneitz 2010:19830808}" "" "" "" "Germline" "" "" "0" "" "" "g.233760331T>G" "" "pathogenic (recessive)" "" "0000917221" "1" "90" "2" "234668977" "234668977" "subst" "0" "00006" "UGT1A1_000003" "g.234668977T>G" "" "{PMID:Sneitz 2010:19830808}" "" "" "" "Germline" "" "" "0" "" "" "g.233760331T>G" "" "pathogenic (recessive)" "" "0000917222" "1" "50" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "VUS" "" "0000917223" "3" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760912C>T" "" "pathogenic (recessive)" "" "0000917224" "3" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "00006" "UGT1A1_000012" "g.234669558C>T" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760912C>T" "" "pathogenic (recessive)" "" "0000917225" "1" "90" "2" "234676504" "234676504" "subst" "4.10182E-6" "00006" "UGT1A1_000034" "g.234676504C>T" "" "{PMID:Sneitz 2010:19830808}" "" "" "" "Germline" "" "" "0" "" "" "g.233767858C>T" "" "pathogenic (recessive)" "" "0000917226" "1" "90" "2" "234676504" "234676504" "subst" "4.10182E-6" "00006" "UGT1A1_000034" "g.234676504C>T" "" "{PMID:Sneitz 2010:19830808}" "" "" "" "Germline" "" "" "0" "" "" "g.233767858C>T" "" "pathogenic (recessive)" "" "0000917227" "3" "90" "2" "234668977" "234668977" "subst" "0" "00006" "UGT1A1_000003" "g.234668977T>G" "" "{PMID:Sneitz 2010:19830808}" "" "" "" "Germline" "" "" "0" "" "" "g.233760331T>G" "" "pathogenic (recessive)" "" "0000917228" "3" "90" "2" "234680931" "234680931" "subst" "4.09316E-6" "00006" "UGT1A1_000164" "g.234680931T>C" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233772285T>C" "" "pathogenic (recessive)" "" "0000917229" "1" "90" "2" "234676941" "234676941" "subst" "0" "00006" "UGT1A1_000041" "g.234676941C>A" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233768295C>A" "" "pathogenic" "" "0000917230" "2" "90" "2" "234676864" "234676864" "subst" "0" "00006" "UGT1A1_000086" "g.234676864A>G" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233768218A>G" "" "pathogenic (recessive)" "" "0000917231" "2" "90" "2" "234669155" "234669155" "subst" "4.06141E-6" "00006" "UGT1A1_000019" "g.234669155C>A" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760509C>A" "" "pathogenic (recessive)" "" "0000917232" "2" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Sneitz 2010:19830808}" "" "1220delA, TA6" "" "Germline" "" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000917233" "2" "90" "2" "234669505" "234669505" "subst" "0" "00006" "UGT1A1_000053" "g.234669505C>T" "" "{PMID:Sneitz 2010:19830808}" "" "" "" "Germline" "" "" "0" "" "" "g.233760859C>T" "" "pathogenic (recessive)" "" "0000917234" "2" "90" "2" "234677001" "234677001" "del" "0" "00006" "UGT1A1_000044" "g.234677001del" "" "{PMID:Sneitz 2010:19830808}" "" "1220delA, TA6" "" "Germline" "" "" "0" "" "" "g.233768355del" "" "pathogenic (recessive)" "" "0000917235" "1" "50" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "" "{PMID:Sneitz 2010:19830808}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233772413T>G" "" "VUS" "" "0000917236" "2" "90" "2" "234681092" "234681092" "del" "0" "00006" "UGT1A1_000049" "g.234681092del" "" "{PMID:Sneitz 2010:19830808}" "" "1489delG, TA6" "" "Germline" "" "" "0" "" "" "g.233772446del" "" "pathogenic (recessive)" "" "0000917237" "2" "90" "2" "234681092" "234681092" "del" "0" "00006" "UGT1A1_000049" "g.234681092del" "" "{PMID:Sneitz 2010:19830808}" "" "1489delG, TA6" "" "Germline" "" "" "0" "" "" "g.233772446del" "" "pathogenic (recessive)" "" "0000917238" "2" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Sneitz 2010:19830808}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917239" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Sneitz 2010:19830808}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917240" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Sneitz 2010:19830808}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917241" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Sneitz 2010:19830808}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917242" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Sneitz 2010:19830808}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917243" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Sneitz 2010:19830808}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917244" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Sneitz 2010:19830808}" "" "TA7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917245" "3" "90" "2" "234666585" "234671175" "del" "0" "00006" "UGT1A1_000143" "g.234666585_234671175del" "" "{PMID:Petit 2008:18698077}" "" "del ex1 (-2349_864+1378del)" "4591bp deletion covering 2335 bp 5’UTR, exon 1 and 1377bp intron 1; break point sequence not shown" "Germline" "" "" "0" "" "" "g.233757939_233762529del" "" "pathogenic (recessive)" "" "0000917246" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Farheen 2006:16610035}" "" "(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917247" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Farheen 2006:16610035}" "" "(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917248" "3" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:D\'Apolito 2007:17229650}" "" "717-718delAG" "" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000917249" "3" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:D\'Apolito 2007:17229650}" "" "717-718delAG" "" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000917250" "3" "90" "2" "234669446" "234669448" "del" "0" "00006" "UGT1A1_000082" "g.234669446_234669448del" "" "{PMID:D\'Apolito 2007:17229650}" "" "513-515delCTT" "" "Germline" "" "" "0" "" "" "g.233760800_233760802del" "" "pathogenic (recessive)" "" "0000917251" "1" "90" "2" "234669585" "234669585" "dup" "0" "00006" "UGT1A1_000153" "g.234669585dup" "" "{PMID:D\'Apolito 2007:17229650}" "" "652insT, prom.TA6 (hom)" "" "Germline" "" "" "0" "" "" "g.233760939dup" "" "pathogenic (recessive)" "" "0000917252" "1" "90" "2" "234669768" "234669768" "subst" "2.8697E-5" "00006" "UGT1A1_000024" "g.234669768A>T" "" "{PMID:D\'Apolito 2007:17229650}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233761122A>T" "" "pathogenic (recessive)" "" "0000917253" "1" "90" "2" "234680984" "234680984" "subst" "0" "00006" "UGT1A1_000081" "g.234680984T>C" "" "{PMID:D\'Apolito 2007:17229650}" "" "prom.TA6 (hom)" "" "Germline" "" "" "0" "" "" "g.233772338T>C" "" "pathogenic (recessive)" "" "0000917254" "1" "90" "2" "234677004" "234677004" "dup" "0" "00006" "UGT1A1_000092" "g.234677004dup" "" "{PMID:D\'Apolito 2007:17229650}" "" "1223-1224insG, prom.TA6" "" "Germline" "" "" "0" "" "" "g.233768358dup" "" "pathogenic (recessive)" "" "0000917255" "1" "90" "2" "234680931" "234680931" "subst" "4.09316E-6" "00006" "UGT1A1_000164" "g.234680931T>C" "" "{PMID:D\'Apolito 2007:17229650}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233772285T>C" "" "pathogenic (recessive)" "" "0000917256" "1" "90" "2" "234676558" "234676558" "subst" "0" "00006" "UGT1A1_000160" "g.234676558T>C" "" "{PMID:D\'Apolito 2007:17229650}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233767912T>C" "" "pathogenic (recessive)" "" "0000917257" "1" "90" "2" "234676889" "234676889" "subst" "8.20378E-6" "00006" "UGT1A1_000161" "g.234676889A>G" "" "{PMID:D\'Apolito 2007:17229650}" "" "prom.TA6 (hom)" "" "Germline" "" "" "0" "" "" "g.233768243A>G" "" "pathogenic (recessive)" "" "0000917258" "1" "90" "2" "234669143" "234669143" "del" "0" "00006" "UGT1A1_000149" "g.234669143del" "" "{PMID:D\'Apolito 2007:17229650}" "" "210delC, prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760497del" "" "pathogenic (recessive)" "" "0000917259" "2" "90" "2" "234669780" "234669780" "subst" "8.19914E-6" "00006" "UGT1A1_000155" "g.234669780C>T" "" "{PMID:D\'Apolito 2007:17229650}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233761134C>T" "" "pathogenic (recessive)" "" "0000917260" "2" "90" "2" "234676965" "234676965" "subst" "1.64074E-5" "00006" "UGT1A1_000163" "g.234676965G>T" "" "{PMID:D\'Apolito 2007:17229650}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233768319G>T" "" "pathogenic (recessive)" "" "0000917261" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917262" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917263" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917264" "2" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917265" "2" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917266" "2" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:D\'Apolito 2007:17229650}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917268" "3" "90" "2" "234669555" "234669558" "dup" "0" "00006" "UGT1A1_000144" "g.234669555_234669558dup" "" "{PMID:Kohli 2010:21488310}" "" "622_625dupCAGC" "" "Germline" "" "" "0" "" "" "g.233760909_233760912dup" "" "pathogenic (recessive)" "" "0000917269" "3" "90" "2" "234669286" "234669286" "dup" "0" "00006" "UGT1A1_000145" "g.234669286dup" "" "{PMID:Wang 2011:22340355}" "" "353-354insA" "" "Germline" "" "" "0" "" "" "g.233760640dup" "" "pathogenic (recessive)" "" "0000917270" "3" "90" "2" "234669648" "234669648" "subst" "0" "00006" "UGT1A1_000146" "g.234669648C>T" "" "{PMID:Nong 2005:15953334}" "" "" "" "Germline" "" "" "0" "" "" "g.233761002C>T" "" "pathogenic (recessive)" "" "0000917438" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Liu 2012:22710376}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917439" "0" "73" "2" "234681073" "234681073" "subst" "8.13623E-5" "00006" "UGT1A1_000147" "g.234681073C>T" "" "{PMID:Liu 2012:22710376}" "" "" "" "Germline" "" "" "0" "" "" "g.233772427C>T" "" "likely pathogenic" "" "0000917440" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Zhou 2009:19325249}" "" "" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "pathogenic (recessive)" "" "0000917441" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Zhou 2009:19325249}" "" "" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "pathogenic (recessive)" "" "0000917442" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "" "{PMID:Zhou 2009:19325249}" "" "" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "pathogenic (recessive)" "" "0000917443" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917444" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917445" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917446" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917447" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917448" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917449" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917450" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917451" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917452" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917453" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917454" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917455" "1" "70" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917456" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917457" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917458" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917459" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" 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"g.233760247_233760248dup" "" "association" "" "0000917464" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917465" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917466" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917467" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "" "{PMID:Zhou 2009:19325249}" "" "A(TA)7TAA" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917468" "2" 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"" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917506" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "4/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917507" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "2/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917508" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "11/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917509" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "1/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917510" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "3/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "association" "" "0000917511" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "6/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "association" "" "0000917512" "1" "90" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "2/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233772413T>G" "" "association" "" "0000917513" "3" "90" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "3/64 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"g.234669619C>A" "4/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760973C>A" "" "VUS" "" "0000917518" "0" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "11/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "association" "" "0000917519" "0" "50" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "1/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760973C>A" "" "VUS" "" "0000917520" "0" "50" "2" "234676872" "234676872" "subst" "0.00122649" "00006" "UGT1A1_000036" "g.234676872C>T" "2/64 cases Gilbert syndrome" "{PMID:Takeuchi 2004:15304120}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233768226C>T" "" "VUS" "" "0000917521" "0" "90" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "1/64 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"" "0" "" "" "g.233760498G>A" "" "association" "" "0000917526" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "2/71 controls" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917527" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "10/71 controls" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917528" "1" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "2/71 controls" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917529" "1" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "18/71 controls" "{PMID:Takeuchi 2004:15304120}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "association" "" "0000917530" "3" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "3/71 controls" "{PMID:Takeuchi 2004:15304120}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "association" "" "0000917531" "1" "90" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "2/71 controls" "{PMID:Takeuchi 2004:15304120}" "" "prom.TA6" "" "Germline" "" "" "0" "" "" "g.233772413T>G" "" "association" "" "0000917532" "0" "90" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "2/71 controls" "{PMID:Takeuchi 2004:15304120}" "" "" "" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "association" "" "0000917533" "3" "90" "2" "234676582" "234676582" "subst" "4.10179E-5" "00006" "UGT1A1_000169" "g.234676582G>A" "" "{PMID:Aggarwal 2010:19953640}" "" "" "" "Germline" "" "" "0" "" "" "g.233767936G>A" "" "pathogenic (recessive)" "" "0000917534" "1" "30" "2" "234669771" "234669771" "subst" "2.45962E-5" "00006" "UGT1A1_000170" "g.234669771T>G" "" "{PMID:Canu 2013:23403257} as Minucci (2009" "" "" "" "Germline" "" "" "0" "" "" "g.233761125T>G" "" "benign" "" "0000917536" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Minucci 2012:22633750}" "" "TA[7]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917537" "21" "90" "2" "234669607" "234669607" "subst" "0.000601069" "00006" "UGT1A1_000010" "g.234669607T>G" "" "{PMID:Minucci 2012:22633750}" "" "" "" "Germline" "" "" "0" "" "" "g.233760961T>G" "" "pathogenic (recessive)" "" "0000917538" "11" "90" "2" "234669655" "234669656" "del" "0" "00006" "UGT1A1_000126" "g.234669655_234669656del" "" "{PMID:Minucci 2012:22633750}" "" "717_718delAG" "" "Germline" "" "" "0" "" "" "g.233761009_233761010del" "" "pathogenic (recessive)" "" "0000917539" "0" "50" "2" "234669471" "234669471" "subst" "0" "00006" "UGT1A1_000175" "g.234669471G>C" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233760825G>C" "" "VUS" "" "0000917540" "0" "70" "2" "234669607" "234669607" "subst" "0.000601069" "00006" "UGT1A1_000010" "g.234669607T>G" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233760961T>G" "" "likely pathogenic (recessive)" "" "0000917541" "0" "70" "2" "234669607" "234669607" "subst" "0.000601069" "00006" "UGT1A1_000010" "g.234669607T>G" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233760961T>G" "" "likely pathogenic (recessive)" "" "0000917542" "0" "70" "2" "234675738" "234675738" "subst" "1.23084E-5" "00006" "UGT1A1_000027" "g.234675738G>A" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233767092G>A" "" "likely pathogenic (recessive)" "" "0000917543" "0" "70" "2" "234676992" "234676992" "subst" "1.23057E-5" "00006" "UGT1A1_000178" "g.234676992T>C" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233768346T>C" "" "likely pathogenic (recessive)" "" "0000917544" "0" "70" "2" "234681026" "234681026" "subst" "0" "00006" "UGT1A1_000179" "g.234681026C>T" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233772380C>T" "" "likely pathogenic (recessive)" "" "0000917545" "0" "50" "2" "234669576" "234669576" "subst" "5.68491E-5" "00006" "UGT1A1_000013" "g.234669576A>G" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233760930A>G" "" "VUS" "" "0000917546" "0" "50" "2" "234669747" "234669747" "subst" "0" "00006" "UGT1A1_000176" "g.234669747A>G" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233761101A>G" "" "VUS" "" "0000917547" "0" "50" "2" "234676937" "234676937" "subst" "4.51201E-5" "00006" "UGT1A1_000177" "g.234676937G>A" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233768291G>A" "" "VUS" "" "0000917548" "0" "50" "2" "234681078" "234681078" "subst" "0" "00006" "UGT1A1_000180" "g.234681078T>C" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "" "" "Germline" "" "" "0" "" "" "g.233772432T>C" "" "VUS" "" "0000917549" "3" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917550" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917551" "3" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917552" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917553" "3" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917554" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917555" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917556" "3" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917557" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917558" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917559" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917560" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917561" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917562" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917563" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "1/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917564" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917565" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917566" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "1/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917567" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "8/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917568" "3" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "37/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917569" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "8/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917570" "3" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "37/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917571" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "70/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917572" "1" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "70/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917573" "3" "90" "2" "234668893" "234668894" "del" "0" "00006" "UGT1A1_000112" "g.234668893_234668894del" "16/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "[TA]7" "" "Germline" "" "" "0" "" "" "g.233760247_233760248del" "" "association" "" "0000917574" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "6/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917575" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "6/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917576" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "39/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917577" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "39/45 casesGilbert Syndrome" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917578" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "71/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917579" "1" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "71/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917580" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "33/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917581" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "36/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917582" "3" "90" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "36/161 controls" "{PMID:Rodrigues 2012:22325916}" "" "-3279T>G" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917589" "3" "90" "2" "234669460" "234669460" "subst" "0" "00006" "UGT1A1_000171" "g.234669460C>T" "" "{PMID:Nair 2012:23162302}" "" "" "" "Germline" "" "" "0" "" "" "g.233760814C>T" "" "pathogenic (recessive)" "" "0000917590" "3" "90" "2" "234669412" "234669412" "subst" "8.12367E-6" "00006" "UGT1A1_000172" "g.234669412T>A" "" "{PMID:Huang 2006:17098698}" "" "" "" "Germline" "" "" "0" "" "" "g.233760766T>A" "" "pathogenic (recessive)" "" "0000917591" "3" "90" "2" "234669543" "234669543" "subst" "0" "00006" "UGT1A1_000173" "g.234669543A>G" "" "{PMID:Huang 2006:17098698}" "" "" "" "Germline" "" "" "0" "" "" "g.233760897A>G" "" "pathogenic (recessive)" "" "0000917592" "3" "90" "2" "234669325" "234669325" "subst" "0" "00006" "UGT1A1_000101" "g.234669325T>C" "" "{PMID:Maruo 2008:18376249}" "" "" "" "Germline" "" "" "0" "" "" "g.233760679T>C" "" "pathogenic (recessive)" "" "0000917593" "3" "90" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A1_000109" "g.234668893_234668894dup" "" "{PMID:Maruo 2008:18376249}" "" "-53TA[8]" "" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "association" "" "0000917594" "3" "50" "2" "234665659" "234665659" "subst" "0" "00006" "UGT1A1_000109" "g.234665659T>G" "" "{PMID:Maruo 2008:18376249}" "" "-3279T>G (c.-3275T>G)" "" "Germline" "" "" "0" "" "" "g.233757013T>G" "" "association" "" "0000917595" "3" "30" "2" "234665782" "234665782" "subst" "0" "00006" "UGT1A1_000109" "g.234665782G>A" "" "{PMID:Maruo 2008:18376249}" "" "-3156G>A (c.-3152G>A)" "" "Germline" "" "" "0" "" "" "g.233757136G>A" "" "likely benign" "" "0000917656" "1" "50" "2" "234668570" "234668570" "subst" "0" "00006" "UGT1A1_000115" "g.234668570C>T" "8/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-364C>T" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233759924C>T" "" "VUS" "" "0000917657" "1" "50" "2" "234668870" "234668870" "subst" "0" "00006" "UGT1A1_000120" "g.234668870G>C" "3/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-64G>C" "no homozygotes, combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233760224G>C" "" "VUS" "" "0000917658" "1" "50" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "8/50 controls" "{PMID:Yea 2008:18223459}" "" "-39(TA)6>(TA)7" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000917659" "1" "50" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "9/50 controls" "{PMID:Yea 2008:18223459}" "" "" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "VUS" "" "0000917660" "1" "50" "2" "234669166" "234669166" "subst" "1.62455E-5" "00006" "UGT1A1_000007" "g.234669166C>T" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "" "no homozygotes, combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233760520C>T" "" "VUS" "" "0000917661" "1" "50" "2" "234669619" "234669619" "subst" "0.00143807" "00006" "UGT1A1_000014" "g.234669619C>A" "2/50 controls" "{PMID:Yea 2008:18223459}" "" "" "no homozygotes, combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233760973C>A" "" "VUS" "" "0000917662" "1" "50" "2" "234675826" "234675826" "subst" "0.00307073" "00006" "UGT1A1_000029" "g.234675826T>C" "2/50 controls" "{PMID:Yea 2008:18223459}" "" "IVS2+15T>C" "no homozygotes, combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233767180T>C" "" "VUS" "" "0000917663" "1" "50" "2" "234681059" "234681059" "subst" "0.000219555" "00006" "UGT1A1_000048" "g.234681059T>G" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "" "no homozygotes, combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233772413T>G" "" "VUS" "" "0000917707" "3" "50" "2" "234668570" "234668570" "subst" "0" "00006" "UGT1A1_000115" "g.234668570C>T" "3/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-364C>T" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233759924C>T" "" "VUS" "" "0000917708" "3" "50" "2" "234668893" "234668894" "dup" "0" "00006" "UGT1A4_000105" "g.234668893_234668894dup" "3/50 controls" "{PMID:Yea 2008:18223459}" "" "-39(TA)6>(TA)7" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233760247_233760248dup" "" "VUS" "" "0000917709" "3" "50" "2" "234669144" "234669144" "subst" "0.0221034" "00006" "UGT1A1_000001" "g.234669144G>A" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233760498G>A" "" "VUS" "" "0000917710" "3" "90" "2" "234669292" "234669293" "del" "0" "00006" "UGT1A1_000174" "g.234669292_234669293del" "" "{PMID:Canu 2013:23403257}" "" "357_358delCT" "" "Germline" "" "" "0" "" "" "g.233760646_233760647del" "" "pathogenic (recessive)" "" "0000961972" "0" "90" "2" "234669048" "234669048" "subst" "0" "02325" "UGT1A1_000005" "g.234669048C>G" "" "" "" "UGT1A1(NM_000463.3):c.115C>G (p.H39D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975095" "0" "50" "2" "234669329" "234669334" "del" "0" "01804" "UGT1A1_000150" "g.234669329_234669334del" "" "" "" "UGT1A1(NM_000463.3):c.396_401del (p.(His132_Lys134delinsGln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975096" "0" "90" "2" "234669619" "234669619" "subst" "0.00143807" "01804" "UGT1A1_000014" "g.234669619C>A" "" "" "" "UGT1A1(NM_000463.3):c.686C>A (p.(Pro229Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000985203" "0" "70" "2" "234669118" "234669118" "subst" "0" "04686" "UGT1A1_000181" "g.234669118C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.233760472C>T" "" "likely pathogenic" "" "0000985204" "0" "50" "2" "234669301" "234669301" "subst" "0" "04686" "UGT1A1_000182" "g.234669301T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.233760655T>G" "" "VUS" "" "0000985205" "0" "70" "2" "234669469" "234669469" "subst" "4.06491E-6" "04686" "UGT1A1_000183" "g.234669469T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.233760823T>A" "" "likely pathogenic" "" "0000985206" "0" "50" "2" "234669601" "234669601" "subst" "0" "04686" "UGT1A1_000184" "g.234669601G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.233760955G>A" "" "VUS" "" "0000985207" "0" "50" "2" "234675672" "234675672" "subst" "0" "04686" "UGT1A1_000185" "g.234675672G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.233767026G>A" "" "VUS" "" "0000985208" "0" "70" "2" "234676902" "234676902" "subst" "0" "04686" "UGT1A1_000186" "g.234676902G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.233768256G>A" "" "likely pathogenic" "" "0000985209" "0" "70" "2" "234676928" "234676928" "subst" "0" "04686" "UGT1A1_000187" "g.234676928T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.233768282T>G" "" "likely pathogenic" "" "0000985210" "0" "50" "2" "234676970" "234676970" "subst" "0" "04686" "UGT1A1_000188" "g.234676970C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.233768324C>A" "" "VUS" "" "0000985211" "0" "50" "2" "234681000" "234681002" "dup" "0" "04686" "UGT1A1_000189" "g.234681000_234681002dup" "" "" "" "1393_1394insTGA" "" "Germline" "" "" "0" "" "" "g.233772354_233772356dup" "" "VUS" "" "0000992664" "0" "50" "2" "234669127" "234669127" "subst" "2.437E-5" "02325" "UGT1A1_000190" "g.234669127C>T" "" "" "" "UGT1A1(NM_000463.3):c.194C>T (p.S65L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013686" "0" "50" "2" "234628292" "234628292" "subst" "0.00159641" "02325" "UGT1A1_000191" "g.234628292A>C" "" "" "" "UGT1A4(NM_007120.3):c.826A>C (p.I276L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013687" "0" "50" "2" "234669483" "234669483" "subst" "0" "02327" "UGT1A1_000192" "g.234669483A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013688" "0" "70" "2" "234676582" "234676582" "subst" "4.10179E-5" "02327" "UGT1A1_000169" "g.234676582G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013689" "0" "50" "2" "234680952" "234680952" "subst" "4.90749E-5" "02325" "UGT1A1_000193" "g.234680952G>A" "" "" "" "UGT1A1(NM_000463.3):c.1349G>A (p.(Arg450His)), UGT1A4(NM_007120.3):c.1352G>A (p.R451H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024557" "0" "90" "2" "234669144" "234669144" "subst" "0.0221034" "02325" "UGT1A1_000001" "g.234669144G>A" "" "" "" "UGT1A1(NM_000463.2):c.211G>A (p.G71R), UGT1A1(NM_000463.3):c.211G>A (p.G71R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033121" "0" "30" "2" "234637905" "234637905" "subst" "0.00428031" "01804" "UGT1A3_000004" "g.234637905C>T" "" "" "" "UGT1A3(NM_019093.4):c.133C>T (p.(Arg45Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033122" "0" "50" "2" "234669331" "234669331" "subst" "8.12229E-6" "01804" "UGT1A1_000194" "g.234669331A>G" "" "" "" "UGT1A1(NM_000463.3):c.398A>G (p.(Asn133Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033123" "0" "50" "2" "234669619" "234669619" "subst" "4.46857E-5" "02325" "UGT1A1_000195" "g.234669619C>T" "" "" "" "UGT1A1(NM_000463.3):c.686C>T (p.P229L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033124" "0" "50" "2" "234669681" "234669681" "subst" "0.000261146" "01804" "UGT1A1_000196" "g.234669681T>C" "" "" "" "UGT1A1(NM_000463.3):c.748T>C (p.(Ser250Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033125" "0" "50" "2" "234676940" "234676940" "subst" "0" "02327" "UGT1A1_000162" "g.234676940C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033126" "0" "50" "2" "234676944" "234676944" "subst" "4.10179E-5" "01804" "UGT1A1_000197" "g.234676944T>C" "" "" "" "UGT1A1(NM_000463.3):c.1163T>C (p.(Met388Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045816" "0" "90" "2" "234669155" "234669155" "subst" "4.06141E-6" "02325" "UGT1A1_000019" "g.234669155C>A" "" "" "" "UGT1A1(NM_000463.2):c.222C>A (p.Y74*), UGT1A1(NM_000463.3):c.222C>A (p.Y74*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051141" "0" "50" "2" "234669451" "234669451" "subst" "0" "02327" "UGT1A1_000198" "g.234669451A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051142" "0" "50" "2" "234669493" "234669493" "subst" "0" "01804" "UGT1A1_000199" "g.234669493C>T" "" "" "" "UGT1A1(NM_000463.3):c.560C>T (p.(Pro187Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051143" "0" "50" "2" "234680952" "234680952" "subst" "4.90749E-5" "01804" "UGT1A1_000193" "g.234680952G>A" "" "" "" "UGT1A1(NM_000463.3):c.1349G>A (p.(Arg450His)), UGT1A4(NM_007120.3):c.1352G>A (p.R451H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051144" "0" "50" "2" "234681041" "234681041" "subst" "3.25246E-5" "01804" "UGT1A1_000200" "g.234681041G>A" "" "" "" "UGT1A1(NM_000463.3):c.1438G>A (p.(Asp480Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051145" "0" "50" "2" "234681147" "234681147" "subst" "2.4573E-5" "01804" "UGT1A1_000201" "g.234681147G>A" "" "" "" "UGT1A1(NM_000463.3):c.1544G>A (p.(Arg515Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063817" "0" "50" "2" "234665659" "234665659" "subst" "0" "02325" "UGT1A1_000109" "g.234665659T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063818" "0" "70" "2" "234669558" "234669558" "subst" "3.24847E-5" "02325" "UGT1A1_000012" "g.234669558C>T" "" "" "" "UGT1A1(NM_000463.2):c.625C>T (p.R209W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 UGT1A1 ## Count = 734 "{{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}}" "0000052781" "00022338" "99" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1" "UGT1A1*6" "0000052782" "00022338" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "UGT1A1*110" "0000052783" "00022338" "99" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "1" "UGT1A1*30" "0000052784" "00022338" "99" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Pro34Gln)" "1" "UGT1A1*102" "0000055826" "00022338" "77" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(His39Asp)" "1" "UGT1A1*44" "0000055827" "00022338" "55" "118" "0" "118" "0" "c.118T>C" "r.(?)" "p.(Trp40Arg)" "1" "UGT1A1*107" "0000055828" "00022338" "11" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Thr78Met)" "1" "" "0000055829" "00022338" "99" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Phe83Leu)" "1" "UGT1A1*62" "0000055830" "00022338" "99" "529" "0" "529" "0" "c.529T>C" "r.(?)" "p.(Cys177Arg)" "1" "UGT1A1*15" "0000055832" "00022338" "99" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "1" "UGT1A1*48" "0000055891" "00022338" "99" "524" "0" "524" "0" "c.524T>A" "r.(?)" "p.(Leu175Gln)" "1" "UGT1A1*12" "0000055892" "00022338" "99" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "1" "UGT1A1*8" "0000055893" "00022338" "33" "643" "0" "643" "0" "c.643A>G" "r.(?)" "p.(Ile215Val)" "1" "" "0000055894" "00022338" "99" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "1" "UGT1A1*27" "0000055895" "00022338" "99" "826" "0" "826" "0" "c.826G>T" "r.(?)" "p.(Gly276Cys)" "1" "UGT1A1*14" "0000253434" "00022338" "10" "540" "0" "540" "0" "c.540A>G" "r.(?)" "p.(Glu180=)" "" "" "0000255493" "00022338" "90" "85" "0" "85" "0" "c.85A>T" "r.(?)" "p.(Lys29Ter)" "" "" "0000255498" "00022338" "90" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Lys402Thr)" "" "" "0000255499" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000255567" "00022338" "90" "835" "0" "835" "0" "c.835A>T" "r.(?)" "p.(Asn279Tyr)" "" "" "0000255585" "00022338" "90" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Gln357Arg)" "" "" "0000312939" "00022338" "30" "1122" "0" "1122" "0" "c.1122T>C" "r.(?)" "p.(Gly374=)" "" "" "0000312940" "00022338" "30" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Val499Met)" "" "" "0000319252" "00022338" "90" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Trp335Ter)" "" "" "0000319253" "00022338" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" "" "" "0000319255" "00022338" "70" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "" "0000319256" "00022338" "70" "1145" "0" "1150" "0" "c.1145_1150del" "r.(?)" "p.(Ile382_Cys383del)" "" "" "0000319257" "00022338" "90" "1160" "0" "1160" "0" "c.1160C>A" "r.(?)" "p.(Pro387His)" "" "" "0000319258" "00022338" "50" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403Cys)" "" "" "0000319259" "00022338" "90" "1304" "1" "1304" "1" "c.1304+1G>T" "r.spl?" "p.?" "" "" "0000319260" "00022338" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" "" "" "0000319261" "00022338" "50" "1429" "0" "1429" "0" "c.1429G>A" "r.(?)" "p.(Ala477Thr)" "" "" "0000319262" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000319263" "00022338" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49Ter)" "" "" "0000319264" "00022338" "90" "1489" "0" "1489" "0" "c.1489del" "r.(?)" "p.(Ala497ProfsTer4)" "" "" "0000319265" "00022338" "70" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523Ter)" "" "" "0000319266" "00022338" "10" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Asp63=)" "" "" "0000319267" "00022338" "90" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Tyr74Ter)" "" "" "0000319268" "00022338" "90" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "" "" "0000319269" "00022338" "90" "470" "0" "470" "0" "c.470del" "r.(?)" "p.(Ser157ThrfsTer48)" "" "" "0000319270" "00022338" "50" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Ser191Phe)" "" "" "0000319271" "00022338" "90" "576" "0" "576" "0" "c.576C>A" "r.(?)" "p.(Tyr192Ter)" "" "" "0000319272" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "" "0000319273" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "" "0000319274" "00022338" "90" "808" "0" "816" "0" "c.808_816del" "r.(?)" "p.(Pro270_Met272del)" "" "" "0000319275" "00022338" "70" "822" "0" "822" "0" "c.822del" "r.(?)" "p.(Phe274LeufsTer92)" "" "" "0000319276" "00022338" "90" "839" "0" "839" "0" "c.839del" "r.(?)" "p.(Cys280SerfsTer86)" "" "" "0000319277" "00022338" "90" "877" "0" "891" "0" "c.877_891delinsA" "r.(?)" "p.(Tyr293ArgfsTer27)" "" "" "0000319278" "00022338" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "" "" "0000319279" "00022338" "10" "996" "15" "996" "15" "c.996+15T>C" "r.(=)" "p.(=)" "" "" "0000319280" "00022338" "10" "996" "18" "996" "18" "c.996+18C>T" "r.(=)" "p.(=)" "" "" "0000319282" "00022338" "50" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Cys383Tyr)" "" "" "0000319283" "00022338" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Cys383=)" "" "" "0000319284" "00022338" "50" "-67124" "0" "-67124" "0" "c.-67124C>G" "r.(?)" "p.(=)" "" "" "0000328188" "00022338" "50" "-123006" "0" "-123006" "0" "c.-123006C>T" "r.(?)" "p.(=)" "" "" "0000328189" "00022338" "50" "-122936" "0" "-122936" "0" "c.-122936G>A" "r.(?)" "p.(=)" "" "" "0000328190" "00022338" "50" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "" "" "0000347558" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000350405" "00022338" "70" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "" "0000515156" "00022338" "50" "182" "0" "182" "0" "c.182C>G" "r.(?)" "p.(Ala61Gly)" "" "" "0000515157" "00022338" "90" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Tyr74Ter)" "" "" "0000515158" "00022338" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Leu95=)" "" "" "0000515159" "00022338" "50" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" "" "" "0000515160" "00022338" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Ser157Asn)" "" "" "0000515161" "00022338" "30" "477" "0" "477" "0" "c.477C>A" "r.(?)" "p.(Ile159=)" "" "" "0000515162" "00022338" "90" "840" "0" "840" "0" "c.840C>A" "r.(?)" "p.(Cys280Ter)" "" "" "0000515163" "00022338" "10" "997" "-100" "997" "-99" "c.997-100_997-99insGT" "r.(=)" "p.(=)" "" "" "0000515164" "00022338" "90" "1007" "0" "1010" "0" "c.1007_1010dup" "r.(?)" "p.(Tyr337Ter)" "" "" "0000515165" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000620990" "00022338" "30" "1343" "0" "1343" "0" "c.1343A>G" "r.(?)" "p.(Lys448Arg)" "" "" "0000650501" "00022338" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000650502" "00022338" "90" "1084" "1" "1084" "1" "c.1084+1G>T" "" "p.?" "" "" "0000650503" "00022338" "70" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "" "0000650504" "00022338" "70" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000654591" "00022338" "30" "-41266" "0" "-41266" "0" "c.-41266C>T" "r.(?)" "p.(=)" "" "" "0000669618" "00022338" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000669619" "00022338" "70" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "" "0000674805" "00022338" "70" "1412" "0" "1412" "0" "c.1412C>G" "r.(?)" "p.(Ala471Gly)" "5" "" "0000674806" "00022338" "50" "1692" "0" "1692" "0" "c.*90C>T" "r.(?)" "p.(=)" "5" "" "0000674807" "00022338" "70" "1589" "0" "1589" "0" "c.1589C>T" "r.(?)" "p.(Ser530Phe)" "5" "" "0000674808" "00022338" "50" "1990" "0" "1990" "0" "c.*388C>T" "r.(?)" "p.(=)" "5" "" "0000682972" "00022338" "70" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(His39Asp)" "" "" "0000682973" "00022338" "70" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(His39Asp)" "" "" "0000682974" "00022338" "70" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(His39Asp)" "" "" "0000682975" "00022338" "70" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(His39Asp)" "" "" "0000682976" "00022338" "70" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(His39Asp)" "" "" "0000683000" "00022338" "50" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Asn384Asp)" "" "" "0000683011" "00022338" "50" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Ala561Thr)" "" "" "0000684745" "00022338" "30" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "" "0000687271" "00022338" "70" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1" "UGT1A1*28" "0000688703" "00022338" "90" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "" "" "0000688704" "00022338" "50" "1322" "0" "1322" "0" "c.1322T>C" "r.(?)" "p.(Met441Thr)" "" "" "0000711866" "00022338" "50" "0" "0" "0" "0" "-" "r.(?)" "p.(?)" "_1" "" "0000711867" "00022338" "50" "0" "0" "0" "0" "-" "r.(?)" "p.(?)" "_1" "UGT1A1*28" "0000711868" "00022338" "50" "1692" "0" "1692" "0" "c.*90C>T" "r.(=)" "p.(=)" "5" "" "0000711869" "00022338" "50" "1813" "0" "1813" "0" "c.*211T>C" "r.(?)" "p.(=)" "5" "" "0000711870" "00022338" "50" "1941" "0" "1941" "0" "c.*339G>C" "r.(?)" "p.(=)" "5" "" "0000711871" "00022338" "50" "2042" "0" "2042" "0" "c.*440G>C" "r.(?)" "p.(=)" "" "" "0000718627" "00022338" "30" "141" "0" "141" "0" "c.141C>T" "r.(?)" "p.(Ile47=)" "" "" "0000718628" "00022338" "50" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Leu60Pro)" "" "" "0000718629" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000800488" "00022338" "30" "-30724" "0" "-30724" "0" "c.-30724T>C" "r.(?)" "p.(=)" "" "" "0000800489" "00022338" "70" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523Ter)" "" "" "0000849798" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000858412" "00022338" "30" "-30689" "0" "-30689" "0" "c.-30689C>G" "r.(?)" "p.(=)" "" "" "0000869462" "00022338" "70" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "" "0000869463" "00022338" "70" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "" "0000869464" "00022338" "90" "877" "0" "890" "0" "c.877_890delinsA" "r.(?)" "p.(Tyr293MetfsTer69)" "" "" "0000869465" "00022338" "90" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*1" "0000869466" "00022338" "90" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28 -54_-40TA[8]" "0000869467" "00022338" "90" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*1" "0000869468" "00022338" "90" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28 -54_-40TA[8]" "0000885024" "00022338" "70" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403Cys)" "" "" "0000909820" "00022338" "90" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341*)" "" "UGT1A1*10" "0000909822" "00022338" "90" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341*)" "" "UGT1A1*10" "0000909823" "00022338" "50" "1381" "0" "1381" "0" "c.1381T>C" "r.(?)" "p.(Trp461Arg)" "" "UGT1A1*94" "0000909824" "00022338" "50" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000909829" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "1" "UGT1A1*13" "0000909830" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "1" "UGT1A1*13" "0000909831" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "1" "UGT1A1*13" "0000909832" "00022338" "90" "474" "0" "475" "0" "c.474_475insT" "r.(?)" "p.(Ile159Tyrfs*24)" "" "UGT1A1*111" "0000909833" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "1" "UGT1A1*13" "0000909834" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "1" "UGT1A1*13" "0000909835" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000909836" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909837" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909838" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "UGT1A1*27" "0000909839" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.686c>a" "p.Pro229Gln" "" "UGT1A1*27" "0000909840" "00022338" "90" "1099" "0" "1099" "0" "c.1099C>G" "r.(?)" "p.(Arg367Gly)" "" "UGT1A1*29" "0000909841" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000909842" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909843" "00022338" "70" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000909844" "00022338" "10" "0" "0" "0" "0" "-" "r.=" "p.=" "_1" "UGT1A1*1" "0000909845" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909846" "00022338" "70" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000909847" "00022338" "10" "0" "0" "0" "0" "-" "r.=" "p.=" "_1" "UGT1A1*1" "0000909848" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909849" "00022338" "70" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000909850" "00022338" "10" "0" "0" "0" "0" "-" "r.=" "p.=" "_1" "UGT1A1*1" "0000909851" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909852" "00022338" "70" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000909853" "00022338" "10" "0" "0" "0" "0" "-" "r.=" "p.=" "_1" "UGT1A1*1" "0000909854" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909855" "00022338" "70" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000909856" "00022338" "10" "0" "0" "0" "0" "-" "r.=" "p.=" "_1" "UGT1A1*1" "0000909857" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "UGT1A1*8" "0000909859" "00022338" "10" "0" "0" "0" "0" "-" "r.=" "p.=" "_1" "UGT1A1*1" "0000909860" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "UGT1A1*27" "0000909862" "00022338" "70" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28" "0000909865" "00022338" "90" "864" "1" "864" "1" "c.864+1G>C" "r.(724_864del)" "p.(Val242_Gln288del)" "1i" "UGT1A1*56" "0000909866" "00022338" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49*)" "" "UGT1A1*58" "0000909867" "00022338" "90" "1085" "-2" "1085" "-2" "c.1085-2A>G" "r.1085_1191del" "p.Gly362AspfsTer10" "3i" "UGT1A1*57" "0000909868" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "UGT1A1*8" "0000909869" "00022338" "90" "1186" "0" "1186" "0" "c.1186del" "r.(?)" "p.(Asp396Ilefs*16)" "4" "UGT1A1*59" "0000909870" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "UGT1A1*8" "0000909871" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909872" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909873" "00022338" "90" "1186" "0" "1186" "0" "c.1186del" "r.(?)" "p.(Asp396Ilefs*16)" "" "UGT1A1*59" "0000909874" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "UGT1A1*8" "0000909875" "00022338" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "" "UGT1A1*11" "0000909876" "00022338" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "" "UGT1A1*11" "0000909877" "00022338" "90" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Gln357Arg)" "" "UGT1A1*16" "0000909878" "00022338" "90" "1143" "0" "1143" "0" "c.1143C>G" "r.(?)" "p.(Ser381Arg)" "4" "UGT1A1*17" "0000909879" "00022338" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "" "UGT1A1*11" "0000909880" "00022338" "90" "1143" "0" "1143" "0" "c.1143C>G" "r.(?)" "p.(Ser381Arg)" "4" "UGT1A1*17" "0000909884" "00022338" "90" "1201" "0" "1201" "0" "c.1201G>C" "r.(?)" "p.(Ala401Pro)" "" "UGT1A1*18" "0000909885" "00022338" "90" "1201" "0" "1201" "0" "c.1201G>C" "r.(?)" "p.(Ala401Pro)" "" "UGT1A1*18" "0000909886" "00022338" "90" "1201" "0" "1201" "0" "c.1201G>C" "r.(?)" "p.(Ala401Pro)" "" "UGT1A1*18" "0000909887" "00022338" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357*)" "" "UGT1A1*4" "0000909888" "00022338" "90" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Trp335*)" "" "UGT1A1*19" "0000909889" "00022338" "90" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Ala368Thr)" "" "UGT1A1*20" "0000909890" "00022338" "90" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Trp335*)" "" "UGT1A1*19" "0000909891" "00022338" "90" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Ala292Val)" "" "UGT1A1*22" "0000909892" "00022338" "90" "1201" "0" "1201" "0" "c.1201G>C" "r.(?)" "p.(Ala401Pro)" "" "UGT1A1*18" "0000909893" "00022338" "90" "1223" "0" "1223" "0" "c.1223dup" "r.(?)" "p.(Ala409Serfs*13)" "" "UGT1A1*21" "0000909894" "00022338" "90" "1282" "0" "1282" "0" "c.1282A>G" "r.(?)" "p.(Lys428Glu)" "" "UGT1A1*23" "0000909895" "00022338" "90" "1309" "0" "1309" "0" "c.1309A>T" "r.(?)" "p.(Lys437*)" "" "UGT1A1*24" "0000909896" "00022338" "90" "840" "0" "840" "0" "c.840C>A" "r.(?)" "p.(Cys280*)" "" "UGT1A1*25" "0000909897" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "UGT1A1*8" "0000909898" "00022338" "90" "524" "0" "524" "0" "c.524T>A" "r.(?)" "p.(Leu175Gln)" "" "UGT1A1*12" "0000909899" "00022338" "90" "973" "0" "973" "0" "c.973del" "r.(?)" "p.(Ala325Leufs*41)" "" "UGT1A1*26" "0000909900" "00022338" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357*)" "" "UGT1A1*4" "0000909901" "00022338" "90" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Ser375Phe)" "" "UGT1A1*3" "0000909902" "00022338" "90" "865" "-1" "996" "1" "c.(864+1_865-1)_(996+1_997-1)del" "r.865_996del" "p.Glu289_Thr332del" "1i_2i" "" "0000909903" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "" "UGT1A1*13" "0000909904" "00022338" "90" "826" "0" "826" "0" "c.826G>C" "r.(?)" "p.(Gly276Arg)" "" "UGT1A1*14" "0000909905" "00022338" "90" "529" "0" "529" "0" "c.529T>C" "r.(?)" "p.(Cys177Arg)" "" "UGT1A1*15" "0000909907" "00022338" "90" "879" "0" "892" "0" "c.879_892del" "r.(?)" "p.(Tyr293*)" "" "" "0000909908" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909909" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "UGT1A1*27" "0000909910" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000909911" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "UGT1A1*27" "0000909912" "00022338" "90" "1099" "0" "1099" "0" "c.1099C>G" "r.(?)" "p.(Arg367Gly)" "" "UGT1A1*29" "0000909913" "00022338" "90" "392" "0" "392" "0" "c.392T>C" "r.(?)" "p.(Leu131Pro)" "" "" "0000909914" "00022338" "90" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "" "UGT1A1*30" "0000909915" "00022338" "90" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "" "UGT1A1*30" "0000909929" "00022338" "90" "1160" "0" "1161" "0" "c.1160_1161delinsGT" "r.(?)" "p.(Pro387Arg)" "" "UGT1A1*31" "0000909930" "00022338" "90" "1160" "0" "1161" "0" "c.1160_1161delinsGT" "r.(?)" "p.(Pro387Arg)" "" "UGT1A1*31" "0000909931" "00022338" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357*)" "" "UGT1A1*4" "0000909932" "00022338" "90" "121" "0" "122" "0" "c.121_122del" "r.(?)" "p.(Leu41Glufs*15)" "" "UGT1A1*41" "0000909933" "00022338" "90" "826" "0" "826" "0" "c.826G>C" "r.(?)" "p.(Gly276Arg)" "" "UGT1A1*14" "0000909934" "00022338" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" "" "UGT1A1*32" "0000909935" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|(0.1_0.15))" "p.(=)" "_1" "UGT1A1*28" "0000909936" "00022338" "90" "881" "0" "881" "0" "c.881T>C" "r.(?)" "p.(Ile294Thr)" "" "UGT1A1*33" "0000909937" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|(0.1_0.15))" "p.(=)" "_1" "UGT1A1*28" "0000909938" "00022338" "90" "928" "0" "928" "0" "c.928A>G" "r.(?)" "p.(Met310Val)" "" "UGT1A1*34" "0000909939" "00022338" "90" "1292" "0" "1292" "0" "c.1292T>C" "r.(?)" "p.(Ile431Thr)" "" "UGT1A1*35" "0000909940" "00022338" "10" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "" "0000909941" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000909942" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000909943" "00022338" "10" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*1" "0000909944" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000909945" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000909946" "00022338" "10" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "" "0000909947" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000909948" "00022338" "10" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000909949" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000909950" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*37" "0000909951" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*37" "0000909952" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000909953" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|>1)" "p.(=)" "_1" "UGT1A1*36" "0000909954" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|>1)" "p.(=)" "_1" "UGT1A1*36" "0000909955" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*37" "0000909956" "00022338" "30" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "" "0000909957" "00022338" "30" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "" "0000909958" "00022338" "90" "1198" "0" "1198" "0" "c.1198A>G" "r.(?)" "p.(Asn400Asp)" "" "UGT1A1*38" "0000909959" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*38" "0000909960" "00022338" "90" "1388" "0" "1388" "0" "c.1388A>C" "r.(?)" "p.(Glu463Ala)" "" "UGT1A1*42" "0000909961" "00022338" "70" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28" "0000909990" "00022338" "90" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(His39Asp)" "" "UGT1A1*44" "0000909991" "00022338" "90" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Tyr74Ter)" "" "UGT1A1.45" "0000909992" "00022338" "90" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(His173MetfsTer32)" "" "UGT1A1.46" "0000909993" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241GlyfsTer16)" "" "UGT1A1.47" "0000909994" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "UGT1A1.48" "0000909995" "00022338" "90" "1043" "0" "1043" "0" "c.1043del" "r.(?)" "p.(Asn348ThrfsTer18)" "" "UGT1A1.49" "0000909996" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "UGT1A1*50" "0000909997" "00022338" "90" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Trp483Ter)" "" "UGT1A1.53" "0000909998" "00022338" "90" "1449" "0" "1449" "0" "c.1449G>A" "r.(?)" "p.(Trp483Ter)" "" "UGT1A1.54" "0000909999" "00022338" "90" "1487" "0" "1487" "0" "c.1487T>A" "r.(?)" "p.(Leu496Ter)" "" "UGT1A1.55" "0000910000" "00022338" "90" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(His376Arg)" "" "UGT1A1.51" "0000910001" "00022338" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "" "UGT1A1.52" "0000910002" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241GlyfsTer16)" "" "UGT1A1*47" "0000910003" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000910004" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*60" "0000910006" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000910007" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "_1" "UGT1A1*6" "0000910009" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000910010" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*60" "0000910012" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*60" "0000910014" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*60" "0000910016" "00022338" "70" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "" "0000910017" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000910019" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=)" "_1" "UGT1A1*28" "0000910022" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000910024" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000910025" "00022338" "90" "877" "0" "890" "0" "c.877_890delinsA" "r.(?)" "p.(Tyr293Metfs*69)" "" "UGT1A1*2" "0000910026" "00022338" "90" "1305" "-1" "1305" "-1" "c.1305-1G>A" "r.(1305_1311del)" "p.(Ser435Argfs*29)" "4i" "" "0000910692" "00022338" "90" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28" "0000910693" "00022338" "90" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Phe83Leu)" "" "UGT1A1*62" "0000910694" "00022338" "90" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Phe83Leu)" "" "UGT1A1*62" "0000910695" "00022338" "90" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28" "0000910696" "00022338" "70" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "UGT1A1*63" "0000910699" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000910701" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000910702" "00022338" "70" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000910703" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "UGT1A1*27" "0000910704" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000910705" "00022338" "90" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28" "0000910706" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000910707" "00022338" "70" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "UGT1A1*63" "0000910708" "00022338" "90" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28" "0000910709" "00022338" "70" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "UGT1A1*63" "0000910710" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "UGT1A1*27" "0000910711" "00022338" "90" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28" "0000910712" "00022338" "70" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "UGT1A1*27" "0000910713" "00022338" "90" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28" "0000910714" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000910716" "00022338" "70" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "UGT1A1*63" "0000910717" "00022338" "90" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*28" "0000910719" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000916774" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916775" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916776" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916777" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916778" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916779" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916780" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916781" "00022338" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "" "UGT1A1*11" "0000916782" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "UGT1A1*48" "0000916783" "00022338" "90" "488" "0" "491" "0" "c.488_491dup" "r.(?)" "p.(Ser165ProfsTer19)" "" "UGT1A1*64" "0000916784" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*37" "0000916785" "00022338" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "" "UGT1A1*11" "0000916786" "00022338" "10" "997" "-82" "997" "-82" "c.997-82T>C" "r.(=)" "p.(=)" "2i" "UGT1A1*66" "0000916787" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*67" "0000916788" "00022338" "10" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "" "UGT1A1*68" "0000916789" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916790" "00022338" "10" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000916791" "00022338" "10" "476" "0" "476" "0" "c.476T>C" "r.(?)" "p.(Ile159Thr)" "" "UGT1A1*69" "0000916792" "00022338" "50" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" " UGT1A1*8" "0000916793" "00022338" "10" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "" "UGT1A1*71" "0000916794" "00022338" "10" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Asp359Asn)" "" "UGT1A1*72" "0000916795" "00022338" "10" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "UGT1A1*73" "0000916796" "00022338" "50" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(His376Arg)" "" "UGT1A1*51" "0000916797" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*67" "0000916798" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916799" "00022338" "10" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000916800" "00022338" "10" "962" "0" "962" "0" "c.962C>G" "r.(?)" "p.(Ala321Gly)" "" "UGT1A1*70" "0000916801" "00022338" "10" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "" "UGT1A1*71" "0000916806" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916807" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916808" "00022338" "10" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000916809" "00022338" "10" "476" "0" "476" "0" "c.476T>C" "r.(?)" "p.(Ile159Thr)" "" "UGT1A1*69" "0000916810" "00022338" "10" "962" "0" "962" "0" "c.962C>G" "r.(?)" "p.(Ala321Gly)" "" "UGT1A1*70" "0000916811" "00022338" "10" "962" "0" "962" "0" "c.962C>G" "r.(?)" "p.(Ala321Gly)" "" "UGT1A1*70" "0000916812" "00022338" "10" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "" "UGT1A1*71" "0000916813" "00022338" "90" "" "0" "" "0" "-" "r.(?)" "p.(=)" "" "UGT1A1*74" "0000916814" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "r.(=|<1)" "" "UGT1A1*60" "0000916815" "00022338" "30" "" "0" "" "0" "-" "r.(?)" "p.(=)" "" "UGT1A1*91" "0000916816" "00022338" "30" "" "0" "" "0" "-" "r.(?)" "p.(=)" "" "UGT1A1*92" "0000916817" "00022338" "30" "" "0" "" "0" "-" "r.(?)" "p.(=)" "" "UGT1A1*93" "0000916818" "00022338" "30" "-364" "0" "-364" "0" "c.-364C>T" "r.(?)" "p.(=)" "" "UGT1A1*80" "0000916819" "00022338" "30" "-64" "0" "-64" "0" "c.-64G>C" "r.(?)" "p.(=)" "" "UGT1A1*81" "0000916820" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "r.(=|<1)" "" "UGT1A1*28" "0000916821" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000916822" "00022338" "30" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(G126=)" "" "" "0000916823" "00022338" "30" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Leu140=)" "" "" "0000916824" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "UGT1A1*27" "0000916825" "00022338" "30" "865" "-157" "865" "-157" "c.865-157C>A" "r.(?)" "p.(=)" "" "UGT1A1*86" "0000916826" "00022338" "30" "865" "-72" "865" "-72" "c.865-72T>G" "r.(?)" "p.(=)" "" "UGT1A1*82" "0000916827" "00022338" "30" "865" "-52" "865" "-52" "c.865-52T>C" "r.(?)" "p.(=)" "" "UGT1A1*83" "0000916828" "00022338" "30" "996" "15" "996" "15" "c.996+15T>C" "r.(?)" "p.(=)" "" "UGT1A1*87" "0000916829" "00022338" "30" "996" "18" "996" "18" "c.996+18C>T" "r.(?)" "p.(=)" "" "UGT1A1*84" "0000916830" "00022338" "30" "997" "-82" "997" "-82" "c.997-82T>C" "r.(?)" "p.(=)" "" "UGT1A1*88" "0000916831" "00022338" "50" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "UGT1A1*73" "0000916832" "00022338" "30" "1305" "-229" "1305" "-229" "c.1305-229A>C" "r.(?)" "p.(=)" "" "UGT1A1*85" "0000916833" "00022338" "50" "1598" "0" "1598" "0" "c.1598A>C" "r.(?)" "p.(His533Pro)" "" "UGT1A1*75" "0000916834" "00022338" "30" "1813" "0" "1813" "0" "c.*211T>C" "r.(?)" "p.(=)" "" "UGT1A1*76" "0000916835" "00022338" "30" "1941" "0" "1941" "0" "c.*339G>C" "r.(?)" "p.(=)" "" "UGT1A1*78" "0000916836" "00022338" "30" "2021" "0" "2021" "0" "c.*419T>C" "r.(?)" "p.(=)" "" "UGT1A1*77" "0000916837" "00022338" "30" "2042" "0" "2042" "0" "c.*440G>C" "r.(?)" "p.(=)" "" "UGT1A1*79" "0000916838" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*60, Hap-I" "0000916839" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*60, Hap-I" "0000916840" "00022338" "30" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*89, Hap-III" "0000916841" "00022338" "30" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*89, Hap-III" "0000916842" "00022338" "30" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*90, Hap-IV" "0000916843" "00022338" "30" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*93, Hap-V" "0000916844" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28, Hap-VI" "0000916845" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28, Hap-VI" "0000916846" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28, Hap-VII" "0000916847" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28, Hap-VII" "0000916848" "00022338" "30" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*91, Hap-VIII" "0000916849" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*37, Hap-IX" "0000916850" "00022338" "90" "" "0" "" "0" "-" "r.(=|>1)" "p.(=|>1)" "" "UGT1A1*36, Hap-X" "0000916851" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*37, Hap-IX" "0000916852" "00022338" "90" "" "0" "" "0" "-" "r.(=|>1)" "p.(=|>1)" "" "UGT1A1*36, Hap-X" "0000916853" "00022338" "30" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*93, Hap-V" "0000916854" "00022338" "30" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*93, Hap-VI" "0000916855" "00022338" "30" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*92, Hap-VII" "0000916856" "00022338" "30" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*93, Hap-VII" "0000916857" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28, Hap-VII" "0000916864" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "" "UGT1A1*13" "0000916865" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "" "0000916866" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "UGT1A1*48" "0000916867" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241Glyfs*16)" "" "UGT1A1*47" "0000916868" "00022338" "90" "877" "0" "890" "0" "c.877_890delinsA" "r.(?)" "p.(Tyr293Metfs*69)" "" "UGT1A1*2" "0000916869" "00022338" "90" "877" "0" "890" "0" "c.877_890delinsA" "r.(?)" "p.(Tyr293MetfsTer69)" "" "UGT1A1*2" "0000916870" "00022338" "90" "877" "0" "890" "0" "c.877_890delinsA" "r.(?)" "p.(Tyr293MetfsTer69)" "" "UGT1A1*2" "0000916871" "00022338" "90" "877" "0" "890" "0" "c.877_890delinsA" "r.(?)" "p.(Tyr293MetfsTer69)" "" "UGT1A1*2" "0000916872" "00022338" "90" "877" "0" "890" "0" "c.877_890delinsA" "r.(?)" "p.(Tyr293MetfsTer69)" "" "UGT1A1*2" "0000916873" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241GlyfsTer16)" "" "UGT1A1*47" "0000916874" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241GlyfsTer16)" "" "UGT1A1*47" "0000916875" "00022338" "90" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Gln357Arg)" "" "UGT1A1*16" "0000916876" "00022338" "90" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "UGT1A1*97" "0000916877" "00022338" "90" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Pro387Ser)" "" "UGT1A1*98" "0000916878" "00022338" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "" "UGT1A1*52" "0000916879" "00022338" "90" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" "" "UGT1A1*95" "0000916880" "00022338" "90" "801" "0" "801" "0" "c.801del" "r.(?)" "p.(Ile268SerfsTer98)" "" "UGT1A1*99" "0000916881" "00022338" "90" "1381" "0" "1381" "0" "c.1381T>C" "r.(?)" "p.(Trp461Arg)" "" "UGT1A1*94" "0000916882" "00022338" "90" "576" "0" "576" "0" "c.576C>G" "r.(?)" "p.(Tyr192Ter)" "" "UGT1A1*100" "0000916883" "00022338" "90" "877" "0" "890" "0" "c.877_890delinsA" "r.(?)" "p.(Tyr293MetfsTer69)" "" "UGT1A1*2" "0000916884" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241GlyfsTer16)" "" "UGT1A1*47" "0000916885" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "UGT1A1*48" "0000916886" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241GlyfsTer16)" "" "UGT1A1*47" "0000916887" "00022338" "90" "877" "0" "890" "0" "c.877_890delinsA" "r.(?)" "p.(Tyr293MetfsTer69)" "" "UGT1A1*2" "0000916888" "00022338" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" "" "UGT1A1*32" "0000916889" "00022338" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" "" "UGT1A1*32" "0000916890" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "UGT1A1*8" "0000916891" "00022338" "90" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Pro34Gln)" "" "UGT1A1*102" "0000916892" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "" "UGT1A1*13" "0000916893" "00022338" "90" "865" "-1" "865" "-1" "c.865-1G>A" "r.spl" "p.?" "" "UGT1A1*104" "0000916894" "00022338" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" "" "UGT1A1*32" "0000916895" "00022338" "90" "878" "0" "890" "0" "c.878_890del" "r.(?)" "p.(Tyr293LeufsTer69)" "" "" "0000916896" "00022338" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "" "UGT1A1*52" "0000916897" "00022338" "90" "1433" "0" "1433" "0" "c.1433C>A" "r.(?)" "p.(Ala478Asp)" "" "UGT1A1*106" "0000916898" "00022338" "90" "878" "0" "890" "0" "c.878_890del" "r.(?)" "p.(Tyr293LeufsTer69)" "" "" "0000916899" "00022338" "90" "576" "0" "576" "0" "c.576C>G" "r.(?)" "p.(Tyr192Ter)" "" "UGT1A1*100" "0000916900" "00022338" "90" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" "" "UGT1A1*95" "0000916901" "00022338" "90" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "UGT1A1*97" "0000916902" "00022338" "90" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Ser375Phe)" "" "UGT1A1*3" "0000916903" "00022338" "90" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "UGT1A1*97" "0000916904" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "UGT1A1*48" "0000916905" "00022338" "90" "1381" "0" "1381" "0" "c.1381T>C" "r.(?)" "p.(Trp461Arg)" "" "UGT1A1*94" "0000916906" "00022338" "90" "1060" "0" "1060" "0" "c.1060T>C" "r.(?)" "p.(Trp354Arg)" "" "UGT1A1*101" "0000916907" "00022338" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "" "UGT1A1*52" "0000916908" "00022338" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403Cys)" "" "UGT1A1*103" "0000916909" "00022338" "90" "1007" "0" "1007" "0" "c.1007G>T" "r.(?)" "p.(Arg336Leu)" "" "UGT1A1*96" "0000916910" "00022338" "90" "1304" "1" "1304" "1" "c.1304+1G>T" "r.spl" "p.?" "" "UGT1A1*105 " "0000916911" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "UGT1A1*48" "0000916912" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "UGT1A1*48" "0000916913" "00022338" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "" "UGT1A1*52" "0000916914" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916915" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916916" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916917" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916918" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916919" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916920" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916921" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916922" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916923" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916924" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916925" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916926" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916927" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916928" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916929" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916930" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916931" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916932" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916933" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916934" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916935" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916936" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916951" "00022338" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Gln331Arg)" "" "" "0000916952" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000916953" "00022338" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Gln331Arg)" "" "" "0000916954" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "" "0000916955" "00022338" "90" "1060" "0" "1060" "0" "c.1060T>C" "r.(?)" "p.(Trp354Arg)" "" "" "0000916956" "00022338" "90" "1060" "0" "1060" "0" "c.1060T>C" "r.(?)" "p.(Trp354Arg)" "" "" "0000916957" "00022338" "90" "118" "0" "118" "0" "c.118T>C" "r.(?)" "p.(Trp40Arg)" "" "UGT1A1*107" "0000916958" "00022338" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "" "" "0000916959" "00022338" "90" "396" "0" "401" "0" "c.396_401del" "r.(?)" "p.(His132_Lys134delinsGln)" "" "UGT1A1*108" "0000916960" "00022338" "90" "554" "0" "554" "0" "c.554A>C" "r.(?)" "p.(Gln185Pro)" "" "UGT1A1*109" "0000916961" "00022338" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "UGT1A1*110" "0000916962" "00022338" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000916963" "00022338" "90" "1223" "0" "1223" "0" "c.1223dup" "r.(?)" "p.(Ala409SerfsTer13)" "" "" "0000916964" "00022338" "90" "1223" "0" "1223" "0" "c.1223dup" "r.(?)" "p.(Ala409SerfsTer13)" "" "" "0000916965" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000916966" "00022338" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "" "" "0000916967" "00022338" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "" "" "0000916968" "00022338" "90" "1304" "1" "1304" "1" "c.1304+1G>T" "r.spl" "p.?" "" "" "0000916969" "00022338" "90" "865" "-1" "865" "-1" "c.865-1G>A" "r.spl" "p.?" "" "" "0000916970" "00022338" "50" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000916971" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916972" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916973" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916974" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916975" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916976" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000916978" "00022338" "30" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*65" "0000916979" "00022338" "90" "1124" "0" "1124" "0" "c.1124C>T" "r.1124c>u" "p.Ser375Phe" "4" "UGT1A1*3" "0000916980" "00022338" "90" "991" "0" "991" "0" "c.991C>T" "r.865_996del" "p.Gln289_Gln332del" "" "UGT1A1*5" "0000917031" "00022338" "90" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Ser375Phe)" "" "UGT1A1*3" "0000917032" "00022338" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357*)" "" "UGT1A1*4" "0000917033" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000917034" "00022338" "30" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000917035" "00022338" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Gln331Arg)" "" "UGT1A1*9" "0000917036" "00022338" "90" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341*)" "" "UGT1A1*10" "0000917037" "00022338" "90" "923" "0" "923" "0" "c.923G>A" "r.932g>a" "p.Gly308Glu" "" "UGT1A1*11" "0000917038" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917039" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "UGT1A1*8" "0000917040" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "UGT1A1*8" "0000917041" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917042" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917043" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917044" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917045" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000917046" "00022338" "70" "1477" "0" "1477" "0" "c.1477G>C" "r.(?)" "p.(Gly493Arg)" "" "UGT1A1*113" "0000917047" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000917048" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917049" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917050" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917051" "00022338" "70" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917052" "00022338" "70" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000917203" "00022338" "90" "609" "0" "632" "0" "c.609_632del" "r.(?)" "p.(His203_Lys211delinsGln)" "" "" "0000917204" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407Argfs*5)" "" "" "0000917205" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241Glyfs*16)" "" "" "0000917206" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407Argfs*5)" "" "" "0000917207" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241Glyfs*16)" "" "" "0000917208" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241Glyfs*16)" "" "" "0000917209" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "" "0000917210" "00022338" "50" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*60" "0000917211" "00022338" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49Ter)" "" "" "0000917212" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000917213" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000917214" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000917215" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000917216" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000917217" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000917218" "00022338" "90" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Lys402Thr)" "" "" "0000917219" "00022338" "90" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "" "" "0000917220" "00022338" "90" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "" "" "0000917221" "00022338" "90" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "" "" "0000917222" "00022338" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917223" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "" "0000917224" "00022338" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "" "0000917225" "00022338" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" "" "" "0000917226" "00022338" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" "" "" "0000917227" "00022338" "90" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "" "" "0000917228" "00022338" "90" "1328" "0" "1328" "0" "c.1328T>C" "r.(?)" "p.(Leu443Pro)" "" "" "0000917229" "00022338" "90" "1160" "0" "1160" "0" "c.1160C>A" "r.(?)" "p.(Pro387His)" "" "" "0000917230" "00022338" "90" "1085" "-2" "1085" "-2" "c.1085-2A>G" "r(1085_1191del)" "p.(Gly362AspfsTer10)" "" "" "0000917231" "00022338" "90" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Tyr74Ter)" "" "" "0000917232" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000917233" "00022338" "90" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Ser191Phe)" "" "" "0000917234" "00022338" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Lys407ArgfsTer5)" "" "" "0000917235" "00022338" "50" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917236" "00022338" "90" "1489" "0" "1489" "0" "c.1489del" "r.(?)" "p.(Ala497ProfsTer4)" "" "" "0000917237" "00022338" "90" "1489" "0" "1489" "0" "c.1489del" "r.(?)" "p.(Ala497ProfsTer4)" "" "" "0000917238" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917239" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917240" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917241" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917242" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917243" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917244" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917245" "00022338" "90" "0" "0" "0" "0" "c.-15_864+1378{0}" "r.0?" "p.0?" "_1_1i" "" "0000917246" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917247" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917248" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241Glyfs*16)" "" "" "0000917249" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241GlyfsTer16)" "" "" "0000917250" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "" "" "0000917251" "00022338" "90" "652" "0" "652" "0" "c.652dup" "r.(?)" "p.(Ser218PhefsTer40)" "" "" "0000917252" "00022338" "90" "835" "0" "835" "0" "c.835A>T" "r.(?)" "p.(Asn279Tyr)" "" "" "0000917253" "00022338" "90" "1381" "0" "1381" "0" "c.1381T>C" "r.(?)" "p.(Trp461Arg)" "" "" "0000917254" "00022338" "90" "1223" "0" "1223" "0" "c.1223dup" "r.(?)" "p.(Ala409SerfsTer13)" "" "" "0000917255" "00022338" "90" "1328" "0" "1328" "0" "c.1328T>C" "r.(?)" "p.(Leu443Pro)" "" "" "0000917256" "00022338" "90" "1060" "0" "1060" "0" "c.1060T>C" "r.(?)" "p.(Trp354Arg)" "" "" "0000917257" "00022338" "90" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Ile370Val)" "" "" "0000917258" "00022338" "90" "210" "0" "210" "0" "c.210del" "r.(?)" "p.(Asp70GlufsTer7)" "" "" "0000917259" "00022338" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Gln283Ter)" "" "" "0000917260" "00022338" "90" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "" "0000917261" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917262" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917263" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917264" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917265" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917266" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917268" "00022338" "90" "622" "0" "625" "0" "c.622_625dup" "r.(?)" "p.(Arg209Profs*50)" "" "" "0000917269" "00022338" "90" "353" "0" "353" "0" "c.353dup" "r.(?)" "p.(Asp119Glyfs*28)" "1" "" "0000917270" "00022338" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "" "" "0000917438" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917439" "00022338" "73" "1470" "0" "1470" "0" "c.1470C>T" "r.(=)" "p.(Asp490=)" "" "" "0000917440" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917441" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917442" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917443" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917444" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917445" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917446" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917447" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917448" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917449" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917450" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917451" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917452" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917453" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917454" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917455" "00022338" "70" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917456" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917457" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917458" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917459" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917460" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917461" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917462" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917463" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917464" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917465" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917466" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917467" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917468" "00022338" "90" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "" "0000917469" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917470" "00022338" "90" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "1i" "" "0000917471" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "1" "" "0000917472" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "1" "" "0000917473" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1i" "" "0000917474" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1i" "" "0000917475" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1i" "" "0000917476" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1i" "" "0000917477" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1i" "" "0000917478" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1i" "" "0000917479" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1i" "" "0000917480" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1i" "" "0000917481" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "1i" "" "0000917482" "00022338" "70" "1352" "0" "1352" "0" "c.1352C>T" "r.(?)" "p.(Pro451Leu)" "" "" "0000917483" "00022338" "70" "1352" "0" "1352" "0" "c.1352C>T" "r.(?)" "p.(Pro451Leu)" "" "" "0000917495" "00022338" "90" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "" "" "0000917496" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917497" "00022338" "90" "864" "5" "864" "5" "c.864+5G>T" "r.spl?" "p.?" "1i" "" "0000917498" "00022338" "90" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Arg367Cys)" "" "" "0000917499" "00022338" "90" "513" "0" "515" "0" "c.513_515del" "r.(?)" "p.(Phe171del)" "" "" "0000917501" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917502" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917503" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917504" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917505" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917506" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917507" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917508" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917509" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917510" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917511" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917512" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917513" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917514" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917515" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917516" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917517" "00022338" "50" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "" "0000917518" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917519" "00022338" "50" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "" "0000917520" "00022338" "50" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" "" "" "0000917521" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917522" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917523" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917524" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917525" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917526" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917527" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917528" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917529" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917530" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917531" "00022338" "90" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "" "0000917532" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0000917533" "00022338" "90" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Gly362Ser)" "" "" "0000917534" "00022338" "30" "838" "0" "838" "0" "c.838T>G" "r.(?)" "p.(Cys280Gly)" "" "" "0000917536" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917537" "00022338" "90" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "" "0000917538" "00022338" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Glu241Glyfs*16)" "" "" "0000917539" "00022338" "50" "538" "0" "538" "0" "c.538G>C" "r.(?)" "p.(Glu180Gln)" "" "" "0000917540" "00022338" "70" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "" "0000917541" "00022338" "70" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Val225Gly)" "" "" "0000917542" "00022338" "70" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "" "" "0000917543" "00022338" "70" "1211" "0" "1211" "0" "c.1211T>C" "r.(?)" "p.(Met404Thr)" "" "" "0000917544" "00022338" "70" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Arg475Cys)" "" "" "0000917545" "00022338" "50" "643" "0" "643" "0" "c.643A>G" "r.(?)" "p.(Ile215Val)" "" "" "0000917546" "00022338" "50" "814" "0" "814" "0" "c.814A>G" "r.(?)" "p.(Met272Val)" "" "" "0000917547" "00022338" "50" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Val386Ile)" "" "" "0000917548" "00022338" "50" "1475" "0" "1475" "0" "c.1475T>C" "r.(?)" "p.(Ile492Thr)" "" "" "0000917549" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917550" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917551" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917552" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917553" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917554" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917555" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917556" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917557" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917558" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917559" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917560" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917561" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917562" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917563" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917564" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917565" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917566" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917567" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917568" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917569" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917570" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917571" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917572" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917573" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "UGT1A1*28" "0000917574" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917575" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917576" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917577" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917578" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917579" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917580" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917581" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917582" "00022338" "90" "" "0" "" "0" "-" "r.(=|<1)" "p.(=|<1)" "" "" "0000917589" "00022338" "90" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Pro176Leu)" "" "" "0000917590" "00022338" "90" "479" "0" "479" "0" "c.479T>A" "r.(?)" "p.(Val160Glu)" "" "" "0000917591" "00022338" "90" "610" "0" "610" "0" "c.610A>G" "r.(?)" "p.(Met204Val)" "" "" "0000917592" "00022338" "90" "392" "0" "392" "0" "c.392T>C" "r.(?)" "p.(Leu131Pro)" "" "" "0000917593" "00022338" "90" "0" "0" "0" "0" "-" "r.(=|<1)" "p.(=|<1)" "_1" "UGT1A1*28" "0000917594" "00022338" "50" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "" "0000917595" "00022338" "30" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "UGT1A1*93" "0000917656" "00022338" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*80" "0000917657" "00022338" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*81" "0000917658" "00022338" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*28" "0000917659" "00022338" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000917660" "00022338" "50" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Thr78Met)" "" "" "0000917661" "00022338" "50" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "UGT1A1*27" "0000917662" "00022338" "50" "996" "15" "996" "15" "c.996+15T>C" "r.(?)" "p.?" "" "UGT1A1*87" "0000917663" "00022338" "50" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Tyr486Asp)" "" "UGT1A1*7" "0000917707" "00022338" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*80" "0000917708" "00022338" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "UGT1A1*28" "0000917709" "00022338" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "UGT1A1*6" "0000917710" "00022338" "90" "359" "0" "360" "0" "c.359_360del" "r.(?)" "p.(Ser120Cysfs*26)" "" "" "0000961972" "00022338" "90" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(His39Asp)" "" "" "0000975095" "00022338" "50" "396" "0" "401" "0" "c.396_401del" "r.(?)" "p.(His132_Lys134delinsGln)" "" "" "0000975096" "00022338" "90" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Pro229Gln)" "" "" "0000985203" "00022338" "70" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "" "" "0000985204" "00022338" "50" "368" "0" "368" "0" "c.368T>G" "r.(?)" "p.(Leu123Arg)" "" "" "0000985205" "00022338" "70" "536" "0" "536" "0" "c.536T>A" "r.(?)" "p.(Leu179Gln)" "" "" "0000985206" "00022338" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "" "0000985207" "00022338" "50" "865" "-8" "865" "-8" "c.865-8G>A" "r.(?)" "p.(=)" "" "" "0000985208" "00022338" "70" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Gly374Asp)" "" "" "0000985209" "00022338" "70" "1147" "0" "1147" "0" "c.1147T>G" "r.(?)" "p.(Cys383Gly)" "" "" "0000985210" "00022338" "50" "1189" "0" "1189" "0" "c.1189C>A" "r.(?)" "p.(Gln397Lys)" "" "" "0000985211" "00022338" "50" "1397" "0" "1399" "0" "c.1397_1399dup" "r.(?)" "p.(Met466dup)" "" "" "0000992664" "00022338" "50" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Ser65Leu)" "" "" "0001013686" "00022338" "50" "-40642" "0" "-40642" "0" "c.-40642A>C" "r.(?)" "p.(=)" "" "" "0001013687" "00022338" "50" "550" "0" "550" "0" "c.550A>T" "r.(?)" "p.(Thr184Ser)" "" "" "0001013688" "00022338" "70" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Gly362Ser)" "" "" "0001013689" "00022338" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "" "0001024557" "00022338" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "" "" "0001033121" "00022338" "30" "-31029" "0" "-31029" "0" "c.-31029C>T" "r.(?)" "p.(=)" "" "" "0001033122" "00022338" "50" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(Asn133Ser)" "" "" "0001033123" "00022338" "50" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Pro229Leu)" "" "" "0001033124" "00022338" "50" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Ser250Pro)" "" "" "0001033125" "00022338" "50" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Pro387Ser)" "" "" "0001033126" "00022338" "50" "1163" "0" "1163" "0" "c.1163T>C" "r.(?)" "p.(Met388Thr)" "" "" "0001045816" "00022338" "90" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Tyr74Ter)" "" "" "0001051141" "00022338" "50" "518" "0" "518" "0" "c.518A>T" "r.(?)" "p.(His173Leu)" "" "" "0001051142" "00022338" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Pro187Leu)" "" "" "0001051143" "00022338" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "" "0001051144" "00022338" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Asp480Asn)" "" "" "0001051145" "00022338" "50" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Arg515Gln)" "" "" "0001063817" "00022338" "50" "-3275" "0" "-3275" "0" "c.-3275T>G" "r.(?)" "p.(=)" "" "" "0001063818" "00022338" "70" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 630 "{{screeningid}}" "{{variantid}}" "0000293812" "0000650501" "0000293813" "0000650502" "0000293814" "0000650503" "0000293815" "0000650504" "0000305930" "0000669618" "0000305931" "0000669619" "0000307987" "0000674805" "0000307987" "0000674806" "0000307988" "0000674807" "0000307989" "0000674808" "0000308571" "0000682972" "0000308572" "0000682973" "0000308573" "0000682974" "0000308574" "0000682975" "0000308575" "0000682976" "0000308599" "0000683000" "0000308599" "0000683011" "0000309843" "0000684745" "0000311763" "0000687271" "0000328018" "0000711866" "0000328018" "0000711867" "0000328018" "0000711868" "0000328018" "0000711869" "0000328018" "0000711870" "0000328018" "0000711871" "0000412204" "0000869462" "0000412205" "0000869463" "0000412206" "0000869464" "0000412207" "0000869465" "0000412208" "0000869466" "0000412209" "0000869467" "0000412209" "0000869468" "0000430089" "0000909820" 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