### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPMT) # 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}}" "TPMT" "thiopurine S-methyltransferase" "6" "p22.3" "unknown" "NG_012137.2" "UD_132118830564" "" "http://www.LOVD.nl/TPMT" "TPMT allele nomenclature committee \r\n\r\nPharmGKB TPMT " "1" "12014" "7172" "187680" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s 7th Framework Programme under grant agreement No 200754 - the GEN2PHEN project.\r\nWe gratefully acknowledge the work of Sally Coulthard (Newcastle upon Tyne, until end 2014) and Malin Lindqvist Appell (Linköping, until end 2015) for curating the TMPT database.\r\nTPMT reference haplotypes in this database.\r\nDownload the current TPMT reference haplotype list (ver.2015-05-19)." "" "g" "http://databases.lovd.nl/shared/refseq/TPMT_codingDNA.html" "1" "" "TPMT reference haplotypes in this database.
\r\nDownload the current TPMT reference haplotype list (ver.2015-05-19)." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-10-30 14:54:16" "00000" "2023-01-11 15:44:22" ## 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}}" "00021695" "TPMT" "thiopurine S-methyltransferase" "001" "NM_000367.2" "" "NP_000358.1" "" "" "" "-155" "3095" "738" "18155374" "18128542" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "02946" "THPM1" "thiopurines, poor metabolism of, type 1" "AR" "610460" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04271" "DMBup" "metabolism, drug, ultra-poor" "" "" "" "" "" "00006" "2015-05-14 16:04:51" "00006" "2021-12-11 13:56:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TPMT" "02946" ## Individuals ## Do not remove or alter this header ## ## Count = 220 "{{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}}" "00025514" "" "" "" "108" "" "00006" "{PMID:Spire-Vayron de la Moureyre 1999:10376766}" "108 individuals tested" "" "" "France" "" "0" "" "" "" "" "00025515" "" "" "" "558" "" "00006" "{PMID:Yan 2000:10976552}" "558 control chromosomes" "" "" "United States" "" "0" "" "" "" "" "00025516" "" "" "" "1" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00025517" "" "" "" "1" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00025518" "" "" "" "1" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00025519" "" "" "" "2" "" "00006" "{PMID:Roberts 2014:24710034}" "2-generation family, father/son" "M" "?" "New Zealand" "" "0" "" "" "" "" "00025520" "" "" "" "1" "" "00006" "{PMID:Evans 1991:1960624}" "2-generation family, 1 affected" "" "no" "United States" "" "0" "" "" "" "" "00025521" "" "" "" "1" "" "00006" "" "2-generation family, 1 affected, unaffected carrier parents" "" "" "United States" "" "0" "" "" "white" "" "00025522" "" "" "" "1" "" "00006" "" "2-generation family, unaffected carrier mother" "" "no" "United States" "" "0" "" "" "" "" "00025523" "" "" "" "1" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025524" "" "" "" "1" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025525" "" "" "" "1" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025526" "" "" "" "1" "" "00006" "" "from 21 controls analysed" "" "" "Korea" "" "0" "" "" "" "" "00025527" "" "" "" "1" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025528" "" "" "" "2" "" "00006" "" "3-generation family, 3 affecteds" "" "" "United States" "" "0" "" "" "white" "" "00025529" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025530" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025531" "" "" "" "12" "" "00006" "" "test of 248 African-American indidivuals" "" "" "United States" "" "0" "" "" "African American" "" "00025532" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025533" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00025534" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025535" "" "" "" "1" "" "00006" "" "2-generation family, 1 affected, carrier parents reduced TPMT activity" "" "" "Sweden" "" "0" "" "" "" "" "00025536" "" "" "" "1" "" "00006" "" "2-generation family, 1 affected, carrier parents reduced TPMT activity" "" "" "Sweden" "" "0" "" "" "" "" "00025537" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00025538" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00025539" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00025540" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "white" "" "00025541" "" "" "" "1" "" "00006" "" "" "" "" "Morocco" "" "0" "" "" "" "" "00025542" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00025543" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00025544" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00025545" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00025546" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00025547" "" "" "" "2" "" "00006" "" "2 affected sisters" "" "" "Sweden" "" "0" "" "" "" "" "00025548" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025549" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025550" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025551" "" "" "" "3" "" "00006" "" "2-generation family, carrier father/2 siblings" "" "" "China" "" "0" "" "" "" "" "00025552" "" "" "" "1" "" "00006" "" "" "" "" "Iran" "" "0" "" "" "" "" "00025553" "" "" "" "1" "" "00006" "" "" "" "" "Thailand" "" "0" "" "" "" "" "00025554" "" "" "" "1" "" "00006" "" "2-generation family, 1 affected, reduced TPMT activity carrier parents" "" "" "France" "" "0" "" "" "white" "" "00025555" "" "" "" "1" "" "00006" "" "" "" "" "Sweden" "" "0" "" "" "Italian" "" "00025556" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025557" "" "" "" "16" "" "00006" "" "test of 199 indidivuals" "" "" "" "" "0" "" "" "white" "" "00025558" "" "" "" "2" "" "00006" "" "test of 99 indidivuals" "" "" "" "" "0" "" "" "Asia, South-West" "" "00025559" "" "" "" "9" "" "00006" "" "test of 192 indidivuals" "" "" "" "" "0" "" "" "Chinese" "" "00025560" "" "" "" "2" "" "00006" "" "test of 199 indidivuals" "" "" "" "" "0" "" "" "white" "" "00025561" "" "" "" "1" "" "00006" "" "test of 199 indidivuals" "" "" "" "" "0" "" "" "white" "" "00025562" "" "" "" "1" "" "00006" "" "test of 199 indidivuals" "" "" "" "" "0" "" "" "white" "" "00025563" "" "" "" "3" "" "00006" "" "test of 192 indidivuals" "" "" "Japan" "" "0" "" "" "" "" "00025564" "" "" "" "4" "" "00006" "" "test of 528 indidivuals (Taiwan 409 aborigines and 117 Taiwan)" "" "" "Taiwan" "" "0" "" "" "" "" "00025565" "" "" "" "1" "" "00006" "" "1 affected" "" "" "Poland" "" "0" "" "" "" "" "00025566" "" "" "" "1" "" "00006" "" "1 affected" "" "" "Germany" "" "0" "" "" "" "" "00025567" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025568" "" "" "" "2" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025569" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025570" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025571" "" "" "" "2" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025572" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025573" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025574" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025575" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025576" "" "" "" "5" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025577" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025578" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025579" "" "" "" "12" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025580" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025581" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025582" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025583" "" "" "" "5" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00025584" "" "" "" "2" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00025585" "" "" "" "1" "" "00006" "" "111 cases in 1214 individuals" "" "" "Germany" "" "0" "" "" "" "" "00025586" "" "" "" "1" "" "00006" "" "111 cases in 1214 individuals" "" "" "Germany" "" "0" "" "" "" "" "00025587" "" "" "" "1" "" "00006" "" "111 cases in 1214 individuals" "" "" "Germany" "" "0" "" "" "" "" "00025588" "" "" "" "89" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00025589" "" "" "" "13" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00025590" "" "" "" "4" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00025591" "" "" "" "94" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00025592" "" "" "" "36" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00025593" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00025594" "" "" "" "17" "" "00006" "" "suspected TPMT carriers" "" "no" "United States" "" "0" "" "" "white" "" "00025595" "" "" "" "1" "" "00006" "{PMID:McLeod 1993:8097831}" "1 affected" "" "" "United States" "" "0" "" "" "white" "" "00025596" "" "" "" "3" "" "00006" "" "3 carriers with intermediate TPMT activity" "" "" "" "" "0" "" "" "white" "" "00025597" "" "" "" "31" "" "00006" "" "analysis 217 control subjects" "" "" "Ghana" "" "0" "" "" "African" "" "00025598" "" "" "" "1" "" "00006" "" "analysis 217 control subjects" "" "" "Ghana" "" "0" "" "" "African" "" "00025599" "" "" "" "1" "" "00006" "" "analysis 199 control subjects" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00025600" "" "" "" "2" "" "00006" "" "analysis 199 control subjects" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00025601" "" "" "" "16" "" "00006" "" "analysis 199 control subjects" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00025602" "" "" "" "1" "" "00006" "" "analysis 199 control subjects" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00025603" "" "" "" "3" "" "00006" "" "analysis 6 cases" "" "" "United States" "" "0" "" "" "white" "" "00025604" "" "" "" "1" "" "00006" "" "analysis 6 cases" "" "" "United States" "" "0" "" "" "white" "" "00025605" "" "" "" "1" "" "00006" "" "analysis 6 cases" "" "" "United States" "" "0" "" "" "white" "" "00025606" "" "" "" "1" "" "00006" "" "analysis 6 cases" "" "" "United States" "" "0" "" "" "white" "" "00025607" "" "" "" "1" "" "00006" "" "several cases" "" "" "United States" "" "0" "" "" "white" "" "00025608" "" "" "" "18" "" "00006" "" "analysis 21 ALL patients" "" "" "United States" "" "0" "" "" "white" "" "00025609" "" "" "" "1" "" "00006" "" "analysis 21 ALL patients" "" "" "United States" "" "0" "" "" "white" "" "00025610" "" "" "" "1" "" "00006" "" "analysis 21 ALL patients" "" "" "United States" "" "0" "" "" "white" "" "00025611" "" "" "" "12" "" "00006" "" "test of 248 African-American indidivuals" "" "" "United States" "" "0" "" "" "African American" "" "00025612" "" "" "" "2" "" "00006" "" "test of 248 African-American indidivuals" "" "" "United States" "" "0" "" "" "African American" "" "00025613" "" "" "" "4" "" "00006" "" "test of 248 African-American indidivuals" "" "" "United States" "" "0" "" "" "African American" "" "00025614" "" "" "" "16" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025615" "" "" "" "3" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025616" "" "" "" "2" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025617" "" "" "" "1" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025618" "" "" "" "1" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025619" "" "" "" "4" "" "00006" "" "From 25 controls analysed" "" "" "Norway" "" "0" "" "" "" "" "00025620" "" "" "" "1" "" "00006" "" "From 25 controls analysed" "" "" "Norway" "" "0" "" "" "" "" "00025621" "" "" "" "1" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025622" "" "" "" "1" "" "00006" "" "from 283 controls analysed" "" "" "United States" "" "0" "" "" "" "" "00025623" "" "" "" "4" "" "00006" "" "from 21 controls analysed" "" "" "Korea" "" "0" "" "" "" "" "00025624" "" "" "" "1" "" "00006" "" "from 21 controls analysed" "" "" "Korea" "" "0" "" "" "" "" "00025625" "" "" "" "1" "" "00006" "" "from 21 controls analysed" "" "" "Korea" "" "0" "" "" "" "" "00025626" "" "" "" "1" "" "00006" "" "from 21 controls analysed" "" "" "Korea" "" "0" "" "" "" "" "00025627" "" "" "" "1" "" "00006" "" "from 21 controls analysed" "" "" "Korea" "" "0" "" "" "" "" "00025628" "" "" "" "1" "" "00006" "" "from 21 controls analysed" "" "" "Korea" "" "0" "" "" "" "" "00025629" "" "" "" "1" "" "00006" "" "from 21 controls analysed" "" "" "Korea" "" "0" "" "" "" "" "00025630" "" "" "" "3" "" "00006" "" "3-generation family, 3 unaffected carriers" "" "" "United States" "" "0" "" "" "white" "" "00025631" "" "" "" "3" "" "00006" "" "3-generation family, 3 unaffected carriers" "" "" "United States" "" "0" "" "" "white" "" "00025632" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "white" "" "00025633" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "white" "" "00025634" "" "" "" "4" "" "00006" "" "4 patients" "" "" "" "" "0" "" "" "white" "" "00025635" "" "" "" "1" "" "00006" "{PMID: Lee 2012:22447118}" "" "M" "no" "China" "" "0" "" "" "" "" "00025636" "" "" "" "1" "" "00006" "" "" "" "?" "Poland" "" "0" "" "" "" "" "00025637" "" "" "" "292" "" "00006" "" "" "" "?" "Poland" "" "0" "" "" "" "" "00025638" "" "" "" "1" "" "00006" "" "" "" "?" "Poland" "" "0" "" "" "" "" "00025640" "" "" "" "201" "" "00006" "" "" "" "?" "Poland" "" "0" "" "" "" "" "00025641" "" "" "" "201" "" "00006" "" "" "" "?" "Poland" "" "0" "" "" "" "" "00025642" "" "" "" "18" "" "00006" "" "" "" "?" "Poland" "" "0" "" "" "" "" "00025643" "" "" "" "431" "" "00006" "" "" "" "?" "Poland" "" "0" "" "" "" "" "00025644" "" "" "" "1" "" "00006" "" "" "" "?" "Poland" "" "0" "" "" "" "" "00025645" "" "" "" "274" "" "00006" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "" "?" "Poland" "" "0" "" "" "" "" "00025865" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025866" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025867" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025868" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025869" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025870" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025871" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025872" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025873" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025874" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025875" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025876" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025877" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025878" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025879" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025880" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025881" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025882" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025883" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025884" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025885" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025886" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025887" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025888" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025889" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025890" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025891" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025892" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025893" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025894" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025895" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025896" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025897" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025898" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025899" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025900" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025901" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025902" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025903" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025904" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025905" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025906" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00025907" "" "" "" "1" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00025908" "" "" "" "1" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00025909" "" "" "" "100" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00025910" "" "" "" "17" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00025911" "" "" "" "4" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00025912" "" "" "" "1" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00025914" "" "" "" "1" "" "00006" "{PMID:Lennard 2013:23252716}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00184080" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "1001" "00184087" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "1008" "00184090" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "1011" "00184104" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "12004" "00184105" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "13001" "00184110" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "Arabic" "13006" "00184112" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "13008" "00184114" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "13010" "00184121" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "13017" "00184126" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "17001" "00184127" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "17002" "00184143" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "2004" "00184145" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "21001" "00184151" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "22005" "00184152" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "22006" "00184161" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "25005" "00184162" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "25006" "00184169" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "26002" "00184172" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "27005" "00184186" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "3012" "00184194" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "3021" "00184213" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "40004" "00184214" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "40005" "00184222" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "42002" "00184225" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "43003" "00184227" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "5002" "00184239" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "5016" "00184251" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "M" "no" "Netherlands" "" "0" "" "" "white" "6008" "00184263" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "6020" "00184274" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "9008" "00184277" "" "" "" "1" "" "02562" "IP3 project, submitted" "" "F" "no" "Netherlands" "" "0" "" "" "white" "9012" "00294036" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294037" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307664" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00307665" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00307666" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00307667" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00307668" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00307669" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" "00307670" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 220 "{{individualid}}" "{{diseaseid}}" "00025514" "00000" "00025515" "00000" "00025516" "02946" "00025517" "02946" "00025518" "02946" "00025519" "02946" "00025520" "02946" "00025521" "02946" "00025522" "00000" "00025523" "02946" "00025524" "02946" "00025525" "02946" "00025526" "02946" "00025527" "02946" "00025528" "02946" "00025529" "00000" "00025530" "02946" "00025531" "02946" "00025532" "02946" "00025533" "02946" "00025534" "02946" "00025535" "02946" "00025536" "02946" "00025537" "00000" "00025538" "00000" "00025539" "00000" "00025540" "00000" "00025541" "02946" "00025542" "02946" "00025543" "02946" "00025544" "02946" "00025545" "00000" "00025546" "00000" "00025547" "02946" "00025548" "02946" "00025549" "02946" "00025550" "02946" "00025551" "02946" "00025552" "02946" "00025553" "02946" "00025554" "02946" "00025555" "02946" "00025556" "02946" "00025557" "00000" "00025558" "00000" "00025559" "00000" "00025560" "00000" "00025561" "00000" "00025562" "00000" "00025563" "00000" "00025564" "00000" "00025565" "02946" "00025566" "02946" "00025567" "02946" "00025568" "02946" "00025569" "00000" "00025570" "02946" "00025571" "00000" "00025572" "02946" "00025573" "02946" "00025574" "02946" "00025575" "02946" "00025576" "02946" "00025577" "02946" "00025578" "02946" "00025579" "00000" "00025580" "00000" "00025581" "02946" "00025582" "02946" "00025583" "02946" "00025584" "02946" "00025585" "02946" "00025586" "02946" "00025587" "02946" "00025588" "00000" "00025589" "00000" "00025590" "00000" "00025591" "00000" "00025592" "00000" "00025593" "02946" "00025594" "02946" "00025595" "02946" "00025596" "02946" "00025597" "00000" "00025598" "00198" "00025599" "00000" "00025600" "00000" "00025601" "00000" "00025602" "00000" "00025603" "02946" "00025604" "02946" "00025605" "02946" "00025606" "02946" "00025607" "00000" "00025608" "02946" "00025609" "02946" "00025610" "02946" "00025611" "02946" "00025612" "02946" "00025613" "02946" "00025614" "02946" "00025615" "02946" "00025616" "02946" "00025617" "02946" "00025618" "02946" "00025619" "02946" "00025620" "02946" "00025621" "02946" "00025622" "02946" "00025623" "02946" "00025624" "02946" "00025625" "02946" "00025626" "02946" "00025627" "02946" "00025628" "02946" "00025629" "02946" "00025630" "02946" "00025631" "02946" "00025632" "02946" "00025633" "02946" "00025634" "02946" "00025635" "02946" "00025636" "00198" "00025637" "00198" "00025638" "00198" "00025640" "00198" "00025641" "00198" "00025642" "00198" "00025643" "00198" "00025644" "00198" "00025645" "00198" "00025865" "00000" "00025866" "00000" "00025867" "04271" "00025868" "00000" "00025869" "04271" "00025870" "04271" "00025871" "00000" "00025872" "00000" "00025873" "00000" "00025874" "00000" "00025875" "00000" "00025876" "00000" "00025877" "00000" "00025878" "00000" "00025879" "00000" "00025880" "00000" "00025881" "00000" "00025882" "00000" "00025883" "00000" "00025884" "00000" "00025885" "00000" "00025886" "00000" "00025887" "00000" "00025888" "00000" "00025889" "00000" "00025890" "00000" "00025891" "00000" "00025892" "00000" "00025893" "00000" "00025894" "00000" "00025895" "00000" "00025896" "00000" "00025897" "00000" "00025898" "00000" "00025899" "00000" "00025900" "00000" "00025901" "00000" "00025902" "00000" "00025903" "00000" "00025904" "00000" "00025905" "00000" "00025906" "00000" "00025907" "02946" "00025908" "02946" "00025909" "02946" "00025910" "02946" "00025911" "02946" "00025912" "02946" "00025914" "02946" "00184080" "00000" "00184087" "00000" "00184090" "00000" "00184104" "00000" "00184105" "00000" "00184110" "00000" "00184112" "00000" "00184114" "00000" "00184121" "00000" "00184126" "00000" "00184127" "00000" "00184143" "00000" "00184145" "00000" "00184151" "00000" "00184152" "00000" "00184161" "00000" "00184162" "00000" "00184169" "00000" "00184172" "00000" "00184186" "00000" "00184194" "00000" "00184213" "00000" "00184214" "00000" "00184222" "00000" "00184225" "00000" "00184227" "00000" "00184239" "00000" "00184251" "00000" "00184263" "00000" "00184274" "00000" "00184277" "00000" "00294036" "00198" "00294037" "00198" "00307664" "00000" "00307665" "00000" "00307666" "00000" "00307667" "00000" "00307668" "00000" "00307669" "00000" "00307670" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02946, 04271 ## Count = 139 "{{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}}" "0000021631" "00000" "00025522" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021632" "00000" "00025529" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021633" "00000" "00025537" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021634" "00000" "00025538" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021635" "00000" "00025539" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021636" "00000" "00025540" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021637" "00000" "00025545" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021638" "00000" "00025546" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021639" "00000" "00025557" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021640" "00000" "00025558" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021641" "00000" "00025559" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021642" "00000" "00025560" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021643" "00000" "00025561" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021644" "00000" "00025562" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021645" "00000" "00025563" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021646" "00000" "00025564" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021647" "00000" "00025569" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021648" "00000" "00025571" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021649" "00000" "00025579" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021650" "00000" "00025580" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021651" "00000" "00025588" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021652" "00000" "00025589" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021653" "00000" "00025590" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021654" "00000" "00025591" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021655" "00000" "00025592" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021656" "00000" "00025597" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021657" "00000" "00025599" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021658" "00000" "00025600" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021659" "00000" "00025601" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021660" "00000" "00025602" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021661" "00000" "00025607" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021666" "00198" "00025598" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021667" "00198" "00025636" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021668" "00198" "00025637" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021669" "00198" "00025638" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021671" "00198" "00025640" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021672" "00198" "00025641" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021673" "00198" "00025642" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021674" "00198" "00025643" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021675" "00198" "00025644" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021676" "00198" "00025645" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021677" "02946" "00025523" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021678" "02946" "00025524" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021679" "02946" "00025525" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021680" "02946" "00025526" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021681" "02946" "00025530" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021682" "02946" "00025531" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021683" "02946" "00025532" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021684" "02946" "00025534" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021685" "02946" "00025541" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021686" "02946" "00025542" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021687" "02946" "00025543" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021688" "02946" "00025544" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021689" "02946" "00025548" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021690" "02946" "00025549" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021691" "02946" "00025550" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021692" "02946" "00025551" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021693" "02946" "00025553" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021694" "02946" "00025555" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021695" "02946" "00025568" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021696" "02946" "00025570" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021697" "02946" "00025576" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021698" "02946" "00025577" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021699" "02946" "00025578" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021700" "02946" "00025581" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021701" "02946" "00025582" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021702" "02946" "00025585" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021703" "02946" "00025586" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021704" "02946" "00025587" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021705" "02946" "00025593" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021706" "02946" "00025594" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021707" "02946" "00025596" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021708" "02946" "00025608" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021709" "02946" "00025609" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021710" "02946" "00025610" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021711" "02946" "00025611" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021712" "02946" "00025612" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021713" "02946" "00025613" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021714" "02946" "00025614" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021715" "02946" "00025615" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021716" "02946" "00025616" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021717" "02946" "00025617" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021718" "02946" "00025618" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021719" "02946" "00025619" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021720" "02946" "00025620" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021721" "02946" "00025621" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021722" "02946" "00025622" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021723" "02946" "00025623" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021724" "02946" "00025624" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021725" "02946" "00025625" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021726" "02946" "00025626" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021727" "02946" "00025627" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021728" "02946" "00025628" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021729" "02946" "00025629" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021730" "02946" "00025630" "00006" "Familial" "" "TPMT deficiency reduced" "" "" "" "" "" "" "" "" "" "" "" "0000021731" "02946" "00025631" "00006" "Familial" "" "TPMT deficiency 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"0000021752" "02946" "00025584" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021753" "02946" "00025595" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021754" "02946" "00025603" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021755" "02946" "00025604" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021756" "02946" "00025605" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021757" "02946" "00025606" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021758" "02946" "00025632" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021759" "02946" "00025633" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021760" "02946" "00025634" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021761" "02946" "00025519" "00006" "Familial" "67y" "see paper; intermediate RBC TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021762" "02946" "00025517" "00006" "Unknown" "" "reduced TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021763" "02946" "00025518" "00006" "Unknown" "" "reduced TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021764" "02946" "00025516" "00006" "Unknown" "" "reduced TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021975" "02946" "00025907" "00006" "Unknown" "" "reduced TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021976" "02946" "00025908" "00006" "Unknown" "" "reduced TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021977" "02946" "00025909" "00006" "Unknown" "" "reduced TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021978" "02946" "00025910" "00006" "Unknown" "" "reduced TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021979" "02946" "00025911" "00006" "Unknown" "" "reduced TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021980" "02946" "00025912" "00006" "Unknown" "" "reduced TPMT activity" "" "" "" "" "" "" "" "" "" "" "" "0000021982" "02946" "00025914" "00006" "Unknown" "" "reduced 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"2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025605" "00025601" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025606" "00025602" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025607" "00025603" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000025608" "00025604" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000025609" "00025605" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000025610" "00025606" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025611" "00025607" "1" "00006" "00006" "2012-09-23 20:52:13" "00006" "2013-01-09 10:44:52" "SEQ" "DNA" "" "" "0000025612" "00025608" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025613" "00025609" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025614" "00025610" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025615" "00025611" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025616" "00025612" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025617" "00025613" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025618" "00025614" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025619" "00025615" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025620" "00025616" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025621" "00025617" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025622" "00025618" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025623" "00025619" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025624" "00025620" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025625" "00025621" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025626" "00025622" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025627" "00025623" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025628" "00025624" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025629" "00025625" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025630" "00025626" "1" "00006" "00006" "2012-09-23 20:52:13" "00006" "2013-01-09 11:56:11" "SEQ" "DNA" "" "" "0000025631" "00025627" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025632" "00025628" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025633" "00025629" "1" "00006" "00006" "2012-09-23 20:52:13" "00006" "2013-01-09 13:01:56" "SEQ" "DNA" "" "" "0000025634" "00025630" "1" "00006" "00006" "2012-09-23 20:52:13" "00006" "2012-09-23 21:04:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000025635" "00025631" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025636" "00025632" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025637" "00025633" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025638" "00025634" "1" "00006" "00006" "2012-09-23 20:52:13" "" "" "SEQ" "DNA" "" "" "0000025639" "00025635" "1" "00006" "00006" "2013-01-09 13:48:16" "00006" "2014-12-19 11:02:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000025640" "00025636" "1" "00006" "00006" "2013-01-26 16:51:12" "" "" "MCA;SEQ" "DNA" "" "" "0000025641" "00025637" "1" "00006" "00006" "2013-01-26 16:51:12" "" "" "MCA;SEQ" "DNA" "" "" "0000025642" "00025638" "1" "00006" "00006" "2013-01-26 16:51:12" "" "" "MCA;SEQ" "DNA" "" "" "0000025644" "00025640" "1" "00006" "00006" "2013-01-26 16:51:12" "" "" "MCA;SEQ" "DNA" "" "" "0000025645" "00025641" "1" "00006" "00006" "2013-01-26 16:51:12" "" "" "MCA;SEQ" "DNA" "" "" "0000025646" "00025642" "1" "00006" "00006" "2013-01-26 16:51:12" "" "" "MCA;SEQ" "DNA" "" "" "0000025647" "00025643" "1" "00006" "00006" "2013-01-26 16:51:12" "" "" "MCA;SEQ" "DNA" "" "" "0000025648" "00025644" "1" "00006" "00006" "2013-01-26 16:51:12" "" "" "MCA;SEQ" "DNA" "" "" "0000025649" "00025645" "1" "00006" "00006" "2013-01-26 16:51:12" "" "" "MCA;SEQ" "DNA" "" "" "0000025867" "00025865" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025868" "00025866" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025869" "00025867" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025870" "00025868" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025871" "00025869" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025872" "00025870" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025873" "00025871" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025874" "00025872" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025875" "00025873" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025876" "00025874" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025877" "00025875" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025878" "00025876" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025879" "00025877" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025880" "00025878" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025881" "00025879" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025882" "00025880" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025883" "00025881" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025884" "00025882" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025885" "00025883" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025886" "00025884" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025887" "00025885" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025888" "00025886" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025889" "00025887" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025890" "00025888" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025891" "00025889" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025892" "00025890" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025893" "00025891" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025894" "00025892" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025895" "00025893" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025896" "00025894" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025897" "00025895" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025898" "00025896" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025899" "00025897" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025900" "00025898" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025901" "00025899" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025902" "00025900" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025903" "00025901" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025904" "00025902" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025905" "00025903" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025906" "00025904" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025907" "00025905" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025908" "00025906" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000025909" "00025907" "1" "00006" "00006" "2014-12-19 13:01:13" "" "" "SEQ" "DNA" "" "" "0000025910" "00025908" "1" "00006" "00006" "2014-12-19 13:01:13" "" "" "SEQ" "DNA" "" "" "0000025911" "00025909" "1" "00006" "00006" "2014-12-19 13:01:13" "" "" "SEQ" "DNA" "" "" "0000025912" "00025910" "1" "00006" "00006" "2014-12-19 13:01:13" "" "" "SEQ" "DNA" "" "" "0000025913" "00025911" "1" "00006" "00006" "2014-12-19 13:01:13" "" "" "SEQ" "DNA" "" "" "0000025914" "00025912" "1" "00006" "00006" "2014-12-19 13:01:13" "" "" "SEQ" "DNA" "" "" "0000025916" "00025914" "1" "00006" "00006" "2014-12-19 13:22:17" "" "" "SEQ" "DNA" "" "" "0000185047" "00184080" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185054" "00184087" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185057" "00184090" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185071" "00184104" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185072" "00184105" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185077" "00184110" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185079" "00184112" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185081" "00184114" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185088" "00184121" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185093" "00184126" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185094" "00184127" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185110" "00184143" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185112" "00184145" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185118" "00184151" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185119" "00184152" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185128" "00184161" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185129" "00184162" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185136" "00184169" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185139" "00184172" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185153" "00184186" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185161" "00184194" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185180" "00184213" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185181" "00184214" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185189" "00184222" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185192" "00184225" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185194" "00184227" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185206" "00184239" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185218" "00184251" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185230" "00184263" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185241" "00184274" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000185244" "00184277" "1" "02562" "00006" "2018-10-27 20:13:16" "" "" "arraySNP;PCRq" "DNA" "saliva" "gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1" "0000295204" "00294036" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295205" "00294037" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308805" "00307664" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000308806" "00307665" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000308807" "00307666" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000308808" "00307667" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000308809" "00307668" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000308810" "00307669" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" "0000308811" "00307670" "1" "00006" "00006" "2014-12-19 11:51:58" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 187 "{{screeningid}}" "{{geneid}}" "0000025518" "TPMT" "0000025519" "TPMT" "0000025520" "TPMT" "0000025521" "TPMT" "0000025522" "TPMT" "0000025523" "TPMT" "0000025524" "TPMT" "0000025525" "TPMT" "0000025526" "TPMT" "0000025527" "TPMT" "0000025528" "TPMT" "0000025529" "TPMT" "0000025530" "TPMT" "0000025531" "TPMT" "0000025532" "TPMT" "0000025533" "TPMT" "0000025534" "TPMT" "0000025535" "TPMT" "0000025536" "TPMT" "0000025537" "TPMT" "0000025538" "TPMT" "0000025539" "TPMT" "0000025540" "TPMT" "0000025541" "TPMT" "0000025542" "TPMT" "0000025543" "TPMT" "0000025544" "TPMT" "0000025545" "TPMT" "0000025546" "TPMT" "0000025547" "TPMT" "0000025548" "TPMT" "0000025549" "TPMT" "0000025550" "TPMT" "0000025551" "TPMT" "0000025552" "TPMT" "0000025553" "TPMT" "0000025554" "TPMT" "0000025555" "TPMT" "0000025556" "TPMT" "0000025557" "TPMT" "0000025558" "TPMT" "0000025559" "TPMT" "0000025560" "TPMT" "0000025561" "TPMT" "0000025562" "TPMT" "0000025563" "TPMT" "0000025564" "TPMT" "0000025565" "TPMT" "0000025566" "TPMT" "0000025567" "TPMT" "0000025568" "TPMT" "0000025569" "TPMT" "0000025570" "TPMT" "0000025571" "TPMT" "0000025572" "TPMT" "0000025573" "TPMT" "0000025574" "TPMT" "0000025575" "TPMT" "0000025576" "TPMT" "0000025577" "TPMT" "0000025578" "TPMT" "0000025579" "TPMT" "0000025580" "TPMT" "0000025581" "TPMT" "0000025582" "TPMT" "0000025583" "TPMT" "0000025584" "TPMT" "0000025585" "TPMT" "0000025586" "TPMT" "0000025587" "TPMT" "0000025588" "TPMT" "0000025589" "TPMT" "0000025590" "TPMT" "0000025591" "TPMT" "0000025592" "TPMT" "0000025593" "TPMT" "0000025594" "TPMT" "0000025595" "TPMT" "0000025596" "TPMT" "0000025597" "TPMT" "0000025598" "TPMT" "0000025599" "TPMT" "0000025600" "TPMT" "0000025601" "TPMT" "0000025602" "TPMT" "0000025603" "TPMT" "0000025604" "TPMT" "0000025605" "TPMT" "0000025606" "TPMT" "0000025607" "TPMT" "0000025608" "TPMT" "0000025609" "TPMT" "0000025610" "TPMT" "0000025611" "TPMT" "0000025612" "TPMT" "0000025613" "TPMT" "0000025614" "TPMT" "0000025615" "TPMT" "0000025616" "TPMT" "0000025617" "TPMT" "0000025618" "TPMT" "0000025619" "TPMT" "0000025620" "TPMT" "0000025621" "TPMT" "0000025622" "TPMT" "0000025623" "TPMT" "0000025624" "TPMT" "0000025625" "TPMT" "0000025626" "TPMT" "0000025627" "TPMT" "0000025628" "TPMT" "0000025629" "TPMT" "0000025630" "TPMT" "0000025631" "TPMT" "0000025632" "TPMT" "0000025633" "TPMT" "0000025634" "TPMT" "0000025635" "TPMT" "0000025636" "TPMT" "0000025637" "TPMT" "0000025638" "TPMT" "0000025639" "TPMT" "0000025640" "TPMT" "0000025641" "TPMT" "0000025642" "TPMT" "0000025644" "TPMT" "0000025645" "TPMT" "0000025646" "TPMT" "0000025647" "TPMT" "0000025648" "TPMT" "0000025649" "TPMT" "0000025867" "TPMT" "0000025868" "TPMT" "0000025869" "TPMT" "0000025870" "TPMT" "0000025871" "TPMT" "0000025872" "TPMT" "0000025873" "TPMT" "0000025874" "TPMT" "0000025875" "TPMT" "0000025876" "TPMT" "0000025877" "TPMT" "0000025878" "TPMT" "0000025879" "TPMT" "0000025880" "TPMT" "0000025881" "TPMT" "0000025882" "TPMT" "0000025883" "TPMT" "0000025884" "TPMT" "0000025885" "TPMT" "0000025886" "TPMT" "0000025887" "TPMT" "0000025888" "TPMT" "0000025889" "TPMT" "0000025890" "TPMT" "0000025891" "TPMT" "0000025892" "TPMT" "0000025893" "TPMT" "0000025894" "TPMT" "0000025895" "TPMT" "0000025896" "TPMT" "0000025897" "TPMT" "0000025898" "TPMT" "0000025899" "TPMT" "0000025900" "TPMT" "0000025901" "TPMT" "0000025902" "TPMT" "0000025903" "TPMT" "0000025904" "TPMT" "0000025905" "TPMT" "0000025906" "TPMT" "0000025907" "TPMT" "0000025908" "TPMT" "0000025909" "TPMT" "0000025910" "TPMT" "0000025911" "TPMT" "0000025912" "TPMT" "0000025913" "TPMT" "0000025914" "TPMT" "0000025916" "TPMT" "0000308805" "TPMT" "0000308806" "TPMT" "0000308807" "TPMT" "0000308808" "TPMT" "0000308809" "TPMT" "0000308810" "TPMT" "0000308811" "TPMT" ## 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 = 395 "{{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}}" "0000039961" "0" "70" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Tai 1996:08644731}, {OMIM187680:0002}" "" "" "1.4x reduced TPMT catalytic activity, instable at 37oC" "In vitro (cloned)" "-" "rs1142345" "0" "" "" "g.18130687T>C" "" "NA" "" "0000039962" "0" "90" "6" "18148141" "18148141" "subst" "0" "00006" "TPMT_000050" "g.18148141A>G" "" "{PMID:Salavaggione 2005:16220112}" "" "" "" "In vitro (cloned)" "-" "rs72552740" "0" "" "" "g.18147910A>G" "" "NA" "" "0000039963" "0" "50" "6" "18139258" "18139258" "subst" "0" "00006" "TPMT_000100" "g.18139258C>G" "" "{PMID:Salavaggione 2005:16220112}" "" "" "" "In vitro (cloned)" "-" "rs72552738" "0" "" "" "g.18139027C>G" "" "NA" "" "0000039964" "0" "50" "6" "18130956" "18130956" "subst" "0" "00006" "TPMT_000070" "g.18130956A>C" "" "{PMID:Salavaggione 2005:16220112}" "" "" "" "In vitro (cloned)" "-" "rs72552736" "0" "" "" "g.18130725A>C" "" "NA" "" "0000039965" "0" "90" "6" "18148141" "18148141" "subst" "0" "00006" "TPMT_000050" "g.18148141A>G" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs72552740" "0" "" "" "g.18147910A>G" "" "NA" "" "0000039966" "0" "90" "6" "18149358" "18149358" "subst" "0" "00006" "TPMT_000140" "g.18149358T>C" "" "{PMID:Ujiie 2008:18708949}" "" "Met1Val" "expression cloning COS7-cells, reduced protein expression, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs9333569" "0" "" "" "g.18149127T>C" "" "NA" "" "0000039967" "0" "90" "6" "18148076" "18148076" "subst" "1.21861E-5" "00006" "TPMT_000180" "g.18148076C>T" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, slightly reuced protein expression, no activity in 6-TG S-methylation" "In vitro (cloned)" "-" "" "0" "" "" "g.18147845C>T" "" "NA" "" "0000039968" "0" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced protein expression, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs1800462" "0" "" "" "g.18143724C>G" "" "NA" "" "0000039969" "0" "90" "6" "18139941" "18139941" "subst" "0.000142441" "00006" "TPMT_000120" "g.18139941G>A" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced protein expression, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "" "0" "" "" "g.18139710G>A" "" "NA" "" "0000039970" "0" "30" "6" "18143837" "18143837" "subst" "0.000349639" "00006" "TPMT_000090" "g.18143837T>G" "" "{PMID:Garat 2008:18602085}" "" "" "no effect on TPMT clearance" "In vitro (cloned)" "-" "" "0" "" "" "g.18143606T>G" "" "NA" "" "0000039971" "0" "30" "6" "18134078" "18134078" "subst" "0.00162881" "00006" "TPMT_000240" "g.18134078C>A" "" "{PMID:Garat 2008:18602085}" "" "" "no effect on TPMT clearance" "In vitro (cloned)" "-" "" "0" "" "" "g.18133847C>A" "" "NA" "" "0000039972" "0" "90" "6" "18131003" "18131003" "subst" "0" "00006" "TPMT_000250" "g.18131003A>G" "" "{PMID:Garat 2008:18602085}" "" "" "significantly reduced TPMT clearance" "In vitro (cloned)" "-" "" "0" "" "" "g.18130772A>G" "" "NA" "" "0000039973" "0" "90" "6" "18148082" "18148082" "subst" "3.65601E-5" "00006" "TPMT_000210" "g.18148082G>C" "" "{PMID:Garat 2008:18602085}" "" "" "significantly reduced TPMT clearance" "In vitro (cloned)" "-" "" "0" "" "" "g.18147851G>C" "" "NA" "" "0000039974" "0" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Tai 1996:08644731}, {OMIM187680:0002}" "" "" "9x reduced TPMT catalytic activity, instable at 37oC" "In vitro (cloned)" "-" "rs1800460" "0" "" "" "g.18138997C>T" "" "NA" "" "0000039975" "0" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Szumlanski 1996:08561894}, {OMIM187680:0005}" "" "" "reduced TPMT catalytic activity" "In vitro (cloned)" "-" "rs1142345" "0" "" "" "g.18130687T>C" "" "NA" "" "0000039976" "0" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Szumlanski 1996:08561894}, {OMIM187680:0004}" "" "" "reduced TPMT catalytic activity" "In vitro (cloned)" "-" "rs1800460" "0" "" "" "g.18138997C>T" "" "NA" "" "0000039977" "0" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, no activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs1800460" "0" "" "" "g.18138997C>T" "" "NA" "" "0000039978" "0" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs1142345" "0" "" "" "g.18130687T>C" "" "NA" "" "0000039979" "0" "90" "6" "18134076" "18134076" "subst" "0.000178721" "00006" "TPMT_000060" "g.18134076T>A" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "" "0" "" "" "g.18133845T>A" "" "NA" "" "0000039980" "0" "90" "6" "18130956" "18130956" "subst" "0" "00006" "TPMT_000070" "g.18130956A>C" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs72552736" "0" "" "" "g.18130725A>C" "" "NA" "" "0000039981" "0" "90" "6" "18130993" "18130993" "subst" "0.00165724" "00006" "TPMT_000080" "g.18130993C>T" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, increased protein expression, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs56161402" "0" "" "" "g.18130762C>T" "" "NA" "" "0000039982" "0" "90" "6" "18139258" "18139258" "subst" "0" "00006" "TPMT_000100" "g.18139258C>G" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs72552738" "0" "" "" "g.18139027C>G" "" "NA" "" "0000039983" "0" "70" "6" "18139920" "18139920" "subst" "0" "00006" "TPMT_000110" "g.18139920C>T" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs72552738" "0" "" "" "g.18139689C>T" "" "NA" "" "0000039984" "0" "70" "6" "18149276" "18149276" "subst" "0" "00006" "TPMT_000130" "g.18149276T>A" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs72552742" "0" "" "" "g.18149045T>A" "" "NA" "" "0000039985" "0" "70" "6" "18139200" "18139200" "subst" "0.000634378" "00006" "TPMT_000160" "g.18139200C>T" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "" "0" "" "" "g.18138969C>T" "" "NA" "" "0000039986" "0" "90" "6" "18149235" "18149235" "subst" "0" "00006" "TPMT_000170" "g.18149235G>C" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "" "0" "" "" "g.18149004G>C" "" "NA" "" "0000039987" "0" "90" "6" "18130925" "18130925" "subst" "2.84386E-5" "00006" "TPMT_000200" "g.18130925T>C" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "rs1142345" "0" "" "" "g.18130694T>C" "" "NA" "" "0000039988" "0" "90" "6" "18148082" "18148082" "subst" "3.65601E-5" "00006" "TPMT_000210" "g.18148082G>C" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, no activity in 6-TG S-methylation" "In vitro (cloned)" "-" "" "0" "" "" "g.18147851G>C" "" "NA" "" "0000039989" "0" "90" "6" "18139200" "18139200" "subst" "0" "00006" "TPMT_000220" "g.18139200C>G" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced protein expression, no activity in 6-TG S-methylation" "In vitro (cloned)" "-" "" "0" "" "" "g.18138969C>G" "" "NA" "" "0000039990" "0" "90" "6" "18134115" "18134115" "subst" "8.12367E-6" "00006" "TPMT_000230" "g.18134115G>C" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation" "In vitro (cloned)" "-" "" "0" "" "" "g.18133884G>C" "" "NA" "" "0000039991" "0" "90" "6" "18149253" "18149253" "subst" "3.24899E-5" "00006" "TPMT_000300" "g.18149253C>T" "" "{PMID:Ujiie 2008:18708949}" "" "" "expression cloning COS7-cells, reduced activity in 6-TG S-methylation; haplotype reported as TPMT*24" "In vitro (cloned)" "-" "" "0" "" "" "g.18149022C>T" "" "NA" "" "0000048421" "0" "30" "6" "18155385" "18155418" "del" "0" "00006" "TPMT_000002" "g.18155385_18155418del" "0.44" "{PMID:Spire-Vayron de la Moureyre 1999:10376766}" "" "4 repeat units, c.[-235_-218[2];-199_-183[1]]" "unit structure 2-1-1, 251 bp fragment" "Germline" "" "" "0" "" "" "g.18155154_18155187del" "" "likely benign" "" "0000048422" "0" "30" "6" "18155368" "18155384" "del" "0" "00006" "TPMT_000003" "g.18155368_18155384del" "0,43" "{PMID:Spire-Vayron de la Moureyre 1999:10376766}" "" "5 repeat units, c.[-235_-218[2];-199_-183[2]]" "unit structure 2-2-1, 268 bp fragment\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.18155137_18155153del" "" "likely benign" "" "0000048423" "0" "30" "6" "18155368" "18155454" "" "0" "00006" "TPMT_000000" "g.18155368_18155454=" "0.08" "{PMID:Spire-Vayron de la Moureyre 1999:10376766}" "" "6 repeat units, c.[-235_-218[2];-199_-183[3]]" "unit structure 2-3-1, 305 bp fragment, identical to ref.sequence" "Germline" "" "" "0" "" "" "g.18155137_18155223=" "" "likely benign" "" "0000048424" "0" "30" "6" "18155384" "18155437" "" "0" "00006" "TPMT_000004" "g.[18155437_18155452[5];18155368_18155384del]" "0.04" "{PMID:Spire-Vayron de la Moureyre 1999:10376766}" "" "7 repeat units, c.[-235_-218[5];-199_-183[1]]" "unit structure 5-1-1, 305 bp fragment" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000048425" "0" "30" "6" "18155384" "18155437" "" "0" "00006" "TPMT_000005" "g.[18155437_18155452[6];18155368_18155384del]" "0.02" "{PMID:Spire-Vayron de la Moureyre 1999:10376766}" "" "8 repeat units, c.[-235_-218[6];-199_-183[1]]" "unit structure 6-1-1, 323 bp fragment" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000048426" "0" "50" "6" "18155368" "18155454" "" "0" "00006" "TPMT_000000" "g.18155368_18155454?" "1/558 chromosomes" "{PMID:Yan 2000:10976552}" "" "3 repeat units" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000048427" "0" "30" "6" "18155385" "18155418" "del" "0" "00006" "TPMT_000002" "g.18155385_18155418del" "303/558 chromosomes" "{PMID:Yan 2000:10976552}" "" "4 repeat units" "" "Germline" "" "" "0" "" "" "g.18155154_18155187del" "" "likely benign" "" "0000048428" "0" "30" "6" "18155368" "18155384" "del" "0" "00006" "TPMT_000003" "g.18155368_18155384del" "201/558 chromosomes" "{PMID:Yan 2000:10976552}" "" "5 repeat units" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.18155137_18155153del" "" "likely benign" "" "0000048429" "0" "50" "6" "18155368" "18155454" "" "0" "00006" "TPMT_000000" "g.18155368_18155454=" "25/558 chromosomes" "{PMID:Yan 2000:10976552}" "" "6 repeat units" "larger repeats have small negative effect on promoter activity" "Germline" "" "" "0" "" "" "g.18155137_18155223=" "" "VUS" "" "0000048430" "0" "70" "6" "18155384" "18155437" "" "0" "00006" "TPMT_000004" "g.[18155437_18155452[5];18155368_18155384del]" "25/558 chromosomes" "{PMID:Yan 2000:10976552}" "" "7 repeat units" "larger repeats have small negative effect on promoter activity" "Germline" "" "" "0" "" "" "" "" "likely benign (!)" "" "0000048431" "0" "70" "6" "18155384" "18155437" "" "0" "00006" "TPMT_000005" "g.[18155437_18155452[6];18155368_18155384del]" "1/558 chromosomes" "{PMID:Yan 2000:10976552}" "" "8 repeat units" "larger repeats have small negative effect on promoter activity" "Germline" "" "" "0" "" "" "" "" "likely benign (!)" "" "0000048432" "0" "70" "6" "18155368" "18155454" "" "0" "00006" "TPMT_000000" "g.18155368_18155454?" "2/558 chromosomes" "{PMID:Yan 2000:10976552}" "" "9 repeat units" "larger repeats have small negative effect on promoter activity" "Germline" "" "" "0" "" "" "" "" "likely benign (!)" "" "0000048433" "0" "90" "6" "18143853" "18143853" "subst" "1.62598E-5" "00006" "TPMT_000320" "g.18143853C>T" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "" "activity 9.7 units (mercaptopurine derived TGNs 694 pmol at 75 mg/m-2 mercaptopurine); haplotype TPMT*1/*32" "Germline" "" "rs115106679" "0" "" "" "g.18143622C>T" "" "benign (!)" "" "0000048434" "0" "90" "6" "18143949" "18143949" "subst" "7.72213E-5" "00006" "TPMT_000340" "g.18143949G>A" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "" "activity 8.0units (thioguanine derived TGNs 3006 pmol at 44 mg/m-2 thioguanine); haplotype TPMT*1/*34" "Germline" "" "rs111901354" "0" "" "" "g.18143718G>A" "" "benign (!)" "" "0000048435" "0" "90" "6" "18139201" "18139201" "subst" "0.000146374" "00006" "TPMT_000330" "g.18139201G>A" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "" "8.5 units (mercaptopurine derived TGNs 634 pmol at 54 mg/m-2 mercaptopurine); haplotype TPMT*1/*33" "Germline" "" "rs112339338" "0" "" "" "g.18138970G>A" "" "benign (!)" "" "0000048436" "11" "70" "6" "18130989" "18130989" "subst" "3.65539E-5" "00006" "TPMT_000370" "g.18130989A>T" "" "{PMID:Roberts 2014:24710034}" "" "" "discovered using exome sequencing; intermediate RBC TPMT activity 8.9U/ml (normal 9.3–17.6U/ml)" "Germline" "yes" "rs398122996" "0" "" "" "g.18130758A>T" "" "VUS" "" "0000048437" "21" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "" "{PMID:Krynetski 1995:07862671}, {OMIM187680:0001}" "CviRI-" "" "100x reduced TPMT catalytic activity; unknown variant 2nd chromosome" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048438" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "" "{PMID:Tai 1996:08644731}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048439" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "" "{PMID:Krynetski 1995:07862671}, {OMIM187680:0001}" "CviRI-" "" "100x reduced TPMT catalytic activity" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048440" "1" "90" "6" "18148141" "18148141" "subst" "0" "00006" "TPMT_000050" "g.18148141A>G" "1/29 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs72552740" "0" "" "" "g.18147910A>G" "" "benign (!)" "" "0000048441" "0" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "0.22" "{PMID:Otterness 1997:09246020}" "" "" "determined in 30 samples" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048442" "1" "90" "6" "18143901" "18143901" "subst" "0.000121887" "00006" "TPMT_000032" "g.18143901C>A" "1/29 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs72552739" "0" "" "" "g.18143670C>A" "" "benign (!)" "" "0000048443" "1" "90" "6" "18134076" "18134076" "subst" "0.000178721" "00006" "TPMT_000060" "g.18134076T>A" "1/10 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs75543815" "0" "" "" "g.18133845T>A" "" "benign (!)" "" "0000048444" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/283 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048445" "11" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048446" "0" "50" "6" "18155397" "18155397" "subst" "0" "00006" "TPMT_000012" "g.18155397G>A" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "" "0" "" "" "g.18155166G>A" "" "VUS" "" "0000048447" "1" "90" "6" "18130956" "18130956" "subst" "0" "00006" "TPMT_000070" "g.18130956A>C" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs72552736" "0" "" "" "g.18130725A>C" "" "benign (!)" "" "0000048448" "1" "50" "6" "18130993" "18130993" "subst" "0.00165724" "00006" "TPMT_000080" "g.18130993C>T" "" "{PMID:Hon 1999:09931346}, {OMIM187680:0006}" "TaiI-" "" "" "Germline" "" "rs56161402" "0" "" "" "g.18130762C>T" "" "VUS" "" "0000048449" "1" "90" "6" "18139258" "18139258" "subst" "0" "00006" "TPMT_000100" "g.18139258C>G" "" "{PMID:Colombel 2000:10833476}, {PMID:Hamdan-Khalil 2003:13679074}" "" "" "30% TPMT clearance" "Germline" "" "rs72552737" "0" "" "" "g.18139027C>G" "" "benign (!)" "" "0000048450" "1" "90" "6" "18139920" "18139920" "subst" "0" "00006" "TPMT_000110" "g.18139920C>T" "" "{PMID:Schaeffeler 2003:12835738}" "" "" "" "Germline" "" "rs72552738" "0" "" "" "g.18139689C>T" "" "benign (!)" "" "0000048451" "1" "90" "6" "18139941" "18139941" "subst" "0.000142441" "00006" "TPMT_000120" "g.18139941G>A" "" "{PMID:Hamdan-Khalil 2003:13679074}" "" "" "30% TPMT clearance" "Germline" "" "" "0" "" "" "g.18139710G>A" "" "benign (!)" "" "0000048452" "11" "90" "6" "18149358" "18149358" "subst" "0" "00006" "TPMT_000140" "g.18149358T>C" "" "{PMID:Lindqvist 2004:15083071}" "" "Met1Val" "" "Germline" "" "rs9333569" "0" "" "" "g.18149127T>C" "" "benign (!)" "" "0000048453" "11" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Lindqvist 2004:15083071}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048454" "1" "90" "6" "18149235" "18149235" "subst" "0" "00006" "TPMT_000170" "g.18149235G>C" "" "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "" "0" "" "" "g.18149004G>C" "" "benign (!)" "" "0000048455" "1" "90" "6" "18148076" "18148076" "subst" "1.21861E-5" "00006" "TPMT_000180" "g.18148076C>T" "" "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "" "0" "" "" "g.18147845C>T" "" "benign (!)" "" "0000048456" "1" "90" "6" "18139200" "18139200" "subst" "0.000634378" "00006" "TPMT_000160" "g.18139200C>T" "" "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs144041067" "0" "" "" "g.18138969C>T" "" "benign (!)" "" "0000048457" "1" "30" "6" "18143828" "18143828" "subst" "0" "00006" "TPMT_000190" "g.18143828T>G" "" "{PMID:Hamdan-Khalil 2005:15652243}" "" "" "unreduced TPMT clearance" "Germline" "" "" "0" "" "" "g.18143597T>G" "" "likely benign" "" "0000048458" "1" "90" "6" "18139200" "18139200" "subst" "0.000634378" "00006" "TPMT_000160" "g.18139200C>T" "" "{PMID:Hamdan-Khalil 2005:15652243}" "" "" "3x reduced TPMT clearance" "Germline" "" "rs144041067" "0" "" "" "g.18138969C>T" "" "benign (!)" "" "0000048459" "1" "90" "6" "18148082" "18148082" "subst" "3.65601E-5" "00006" "TPMT_000210" "g.18148082G>C" "" "{PMID:Schaeffeler 2006:16917910}" "" "" "" "Germline" "" "rs200591577" "0" "" "" "g.18147851G>C" "" "benign (!)" "" "0000048460" "1" "90" "6" "18139200" "18139200" "subst" "0" "00006" "TPMT_000220" "g.18139200C>G" "" "{PMID:Schaeffeler 2006:16917910}" "" "" "" "Germline" "" "" "0" "" "" "g.18138969C>G" "" "benign (!)" "" "0000048461" "1" "90" "6" "18130925" "18130925" "subst" "2.84386E-5" "00006" "TPMT_000200" "g.18130925T>C" "" "{PMID:Schaeffeler 2006:16917910}" "" "" "" "Germline" "" "rs150900439" "0" "" "" "g.18130694T>C" "" "benign (!)" "" "0000048462" "1" "50" "6" "18149253" "18149253" "subst" "3.24899E-5" "00006" "TPMT_000300" "g.18149253C>T" "1/192 ind." "{PMID:Sasaki 2006:16946561}" "" "" "" "Germline" "" "" "0" "" "" "g.18149022C>T" "" "VUS" "" "0000048463" "1" "30" "6" "18130670" "18130670" "subst" "0" "00006" "TPMT_000014" "g.18130670T>C" "1/193 ind." "{PMID:Sasaki 2006:16946561}" "" "967A>G" "no homozygotes" "Germline" "" "" "0" "" "" "g.18130439T>C" "" "likely benign" "" "0000048464" "10" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Lindqvist 2007:17885628}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048465" "1" "50" "6" "18143837" "18143837" "subst" "0.000349639" "00006" "TPMT_000090" "g.18143837T>G" "" "{PMID:Garat 2008:18602085}" "" "" "not in 200 control chromosomes" "Germline" "" "rs151149760" "0" "" "" "g.18143606T>G" "" "VUS" "" "0000048466" "1" "50" "6" "18134078" "18134078" "subst" "0.00162881" "00006" "TPMT_000240" "g.18134078C>A" "" "{PMID:Garat 2008:18602085}" "" "" "not in 200 control chromosomes" "Germline" "" "rs6921269" "0" "" "" "g.18133847C>A" "" "VUS" "" "0000048467" "1" "70" "6" "18131003" "18131003" "subst" "0" "00006" "TPMT_000250" "g.18131003A>G" "" "{PMID:Garat 2008:18602085}" "" "" "not in 200 control chromosomes" "Germline" "" "rs377085266" "0" "" "" "g.18130772A>G" "" "likely benign (!)" "" "0000048468" "1" "90" "6" "18132367" "18132367" "subst" "2.43669E-5" "00006" "TPMT_000260" "g.18132367A>G" "" "{PMID:Kham 2009:19660010}" "" "" "" "Germline" "" "rs72556347" "0" "" "" "g.18132136A>G" "" "benign (!)" "" "0000048469" "1" "10" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "" "{PMID:de Beaumais 2009:19917002}" "" "" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "benign" "" "0000048470" "1" "90" "6" "18143874" "18143874" "subst" "0" "00006" "TPMT_000270" "g.18143874A>C" "" "{PMID:Feng 2010:19945438}" "" "" "" "Germline" "" "" "0" "" "" "g.18143643A>C" "" "benign (!)" "" "0000048471" "11" "90" "6" "18143903" "18143903" "del" "0" "00006" "TPMT_000296" "g.18143903del" "" "{PMID:Torres 2010:20186941}" "" "" "TPMT*?" "Germline" "" "" "0" "" "" "g.18143672del" "" "benign (!)" "" "0000048472" "1" "90" "6" "18132378" "18132378" "subst" "4.06111E-6" "00006" "TPMT_000310" "g.18132378A>G" "" "{PMID:Appell 2010:20881512}" "" "" "TPMT protein destabilised" "Germline" "" "rs79901429" "0" "" "" "g.18132147A>G" "" "benign (!)" "" "0000048473" "1" "90" "6" "18143844" "18143844" "subst" "0" "00006" "TPMT_000280" "g.18143844C>G" "" "{PMID:Landy 2010:20945351}" "" "349G>A" "suggested residual TPMT activity" "Germline" "" "" "0" "" "" "g.18143613C>G" "" "benign (!)" "" "0000048474" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "16/248 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048475" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "2/99 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0002}" "" "" "no *2, *3B/C alleles detected" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048476" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "9/192 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0005}" "" "" "no *2, *3A/B alleles detected" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048477" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "2/248 controls" "{PMID:Collie-Duguid 1999:10208641}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048478" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/248 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0005}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048479" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/248 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048480" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "3/192 controls" "{PMID:Hiratsuka 2000:10751626}, {OMIM187680:0005}" "" "" "no *2, *3A/B alleles detected" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048481" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "4/528 controls" "{PMID:Liu 2006:16476125}, {OMIM187680:0005}" "" "" "no *2, *3A/B alleles detected" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048482" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Kurzawski 2005:15819814}, {OMIM187680:0005}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048483" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Leipold 1997:15819814}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048484" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048485" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048486" "0" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "1/10 chromosomes" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048487" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048488" "1" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048489" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048490" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048491" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048492" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048493" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048494" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048495" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048496" "1" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "11/41 individuals" "{PMID:Colombel 2000:10833476}" "" "" "11 individuals (1 homozygous)" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048497" "1" "30" "6" "18155397" "18155397" "subst" "0" "00006" "TPMT_000012" "g.18155397G>A" "1/41 individuals" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "" "0" "" "" "g.18155166G>A" "" "likely benign" "" "0000048498" "1" "90" "6" "18149276" "18149276" "subst" "0" "00006" "TPMT_000130" "g.18149276T>A" "" "{PMID:Hamdan-Khalil 2003:13679074}" "" "" "57% TPMT clearance" "Germline" "" "rs72552742" "0" "" "" "g.18149045T>A" "" "benign (!)" "" "0000048499" "1" "90" "6" "18130956" "18130956" "subst" "0" "00006" "TPMT_000070" "g.18130956A>C" "" "{PMID:Salavaggione 2005:16220112}" "" "" "10% TPMT clearance" "Germline" "" "rs72552736" "0" "" "" "g.18130725A>C" "" "benign (!)" "" "0000048500" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "5/1214 ind." "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048501" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "2/1214 ind." "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048502" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "0.045" "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048503" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "0.004" "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048504" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "0.002" "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048505" "1" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "89/192 ind." "{PMID:Sasaki 2006:16946561}" "" "" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048506" "1" "10" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "13/192 ind." "{PMID:Sasaki 2006:16946561}" "" "" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "benign" "" "0000048507" "1" "10" "6" "18132495" "18132495" "subst" "0" "00006" "TPMT_000008" "g.18132495G>A" "4/193 ind." "{PMID:Sasaki 2006:16946561}" "" "IVS8-87C>T" "" "Germline" "" "" "0" "" "" "g.18132264G>A" "" "benign" "" "0000048508" "1" "10" "6" "18148019" "18148019" "subst" "0.51935" "00006" "TPMT_000016" "g.18148019G>A" "94/197 ind." "{PMID:Sasaki 2006:16946561}" "" "IVS4+35T>C" "" "Germline" "" "rs4449636" "0" "" "" "g.18147788G>A" "" "benign" "" "0000048509" "1" "10" "6" "18148019" "18148019" "subst" "0.51935" "00006" "TPMT_000016" "g.18148019G>A" "36/197 ind." "{PMID:Sasaki 2006:16946561}" "" "IVS4+35T>C" "" "Germline" "" "rs4449636" "0" "" "" "g.18147788G>A" "" "benign" "" "0000048510" "1" "70" "6" "18148082" "18148082" "subst" "3.65601E-5" "00006" "TPMT_000210" "g.18148082G>C" "" "{PMID:Garat 2008:18602085}" "" "" "not in 200 control chromosomes" "Germline" "" "rs200591577" "0" "" "" "g.18147851G>C" "" "likely benign (!)" "" "0000048511" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "17/22" "{PMID:Tai 1996:08644731}" "MwoI-" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048512" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Tai 1996:08644731}, {OMIM187680:0002}" "MwoI-" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048513" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Szumlanski 1996:08561894}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048514" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "31/217 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0005}" "" "" "no *2, *3A and *3B alleles encountered" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048515" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/217 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0005}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048516" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/199 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0005}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048517" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "2/199 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0001}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048518" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "16/199 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048519" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/199 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048520" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "3/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048521" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048522" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "1/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048523" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048524" "0" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "" "{PMID:Yates 1997:09103127}" "" "474T>C" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048525" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "18/21 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048526" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/21 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048527" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "1/21 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048528" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "12/248 controls" "{PMID:Hon 1999:09931346}, {OMIM187680:0005}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048529" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "4/248 controls" "{PMID:Hon 1999:09931346}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048530" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "2/248 controls" "{PMID:Hon 1999:09931346}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048531" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "16/29 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048532" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "3/29 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048533" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "2/29 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048534" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "1/29 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048535" "0" "30" "6" "18143854" "18143854" "subst" "0.00552015" "00006" "TPMT_000019" "g.18143854G>A" "1/30 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "" "0" "" "" "g.18143623G>A" "" "likely benign" "" "0000048536" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "4/25 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048537" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/25 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048538" "0" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "0.24" "{PMID:Otterness 1997:09246020}" "" "" "determined in 25 samples" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048539" "0" "30" "6" "18143854" "18143854" "subst" "0.00552015" "00006" "TPMT_000019" "g.18143854G>A" "1/25 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "" "0" "" "" "g.18143623G>A" "" "likely benign" "" "0000048540" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "4/10 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048541" "0" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "0.17" "{PMID:Otterness 1997:09246020}" "" "" "determined in 21 samples" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048542" "1" "50" "6" "18149388" "18149388" "subst" "8.12929E-6" "00006" "TPMT_000013" "g.18149388A>T" "1/21 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "" "0" "" "" "g.18149157A>T" "" "VUS" "" "0000048543" "1" "50" "6" "18149105" "18149105" "subst" "0" "00006" "TPMT_000033" "g.18149105A>T" "" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs3931660" "0" "" "" "g.18148874A>T" "" "VUS" "" "0000048544" "1" "50" "6" "18148019" "18148019" "subst" "0.51935" "00006" "TPMT_000016" "g.18148019G>A" "" "{PMID:Otterness 1997:09246020}" "" "IVS4+35T>C" "" "Germline" "" "rs4449636" "0" "" "" "g.18147788G>A" "" "VUS" "" "0000048545" "1" "50" "6" "18147958" "18147958" "subst" "0" "00006" "TPMT_000017" "g.18147958C>A" "" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "" "0" "" "" "g.18147727C>A" "" "VUS" "" "0000048546" "1" "50" "6" "18143769" "18143769" "subst" "0" "00006" "TPMT_000035" "g.18143769A>G" "" "{PMID:Otterness 1997:09246020}" "" "IVS5+58C>T" "" "Germline" "" "rs2518463" "0" "" "" "g.18143538A>G" "" "VUS" "" "0000048547" "1" "90" "6" "18131012" "18131012" "subst" "2.84361E-5" "00006" "TPMT_000040" "g.18131012C>T" "" "{PMID:Otterness 1998:09486974}, {OMIM187680:0003}" "" "IVS9-1G>A" "" "Germline" "" "rs1800584" "0" "" "" "g.18130781C>T" "" "benign (!)" "" "0000048548" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048549" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048550" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048551" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Szumlanski 1996:08561894}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048552" "0" "90" "6" "18149357" "18149357" "subst" "2.03092E-5" "00006" "TPMT_000290" "g.18149357A>G" "" "{PMID: Lee 2012:22447118}" "" "Met1Thr" "" "Unknown" "" "rs267607275" "0" "" "" "g.18149126A>G" "" "benign (!)" "" "0000048553" "0" "30" "6" "18149329" "18149329" "subst" "0.000300539" "00006" "TPMT_000286" "g.18149329A>T" "1/548" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "Ile10Ile" "" "Unknown" "" "rs200780293" "0" "" "" "g.18149098A>T" "" "likely benign" "" "0000048554" "0" "10" "6" "18155368" "18155384" "del" "0" "00006" "TPMT_000003" "g.18155368_18155384del" "292/548" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.18155137_18155153del" "" "benign" "" "0000048555" "0" "30" "6" "18148068" "18148068" "subst" "4.87432E-5" "00006" "TPMT_000009" "g.18148068C>T" "1/548" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "Ala73Ala" "" "Unknown" "" "" "0" "" "" "g.18147837C>T" "" "likely benign" "" "0000048557" "0" "10" "6" "18143769" "18143769" "subst" "0" "00006" "TPMT_000035" "g.18143769A>G" "201/548" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "" "" "Germline" "" "rs2518463" "0" "" "" "g.18143538A>G" "" "benign" "" "0000048558" "0" "30" "6" "18139916" "18139916" "subst" "0" "00006" "TPMT_000007" "g.18139916G>A" "2/548" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "Cys133Cys" "" "Unknown" "" "" "0" "" "" "g.18139685G>A" "" "likely benign" "" "0000048559" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "18/548" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048560" "0" "10" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "431/548" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "Ile158Ile" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "benign" "" "0000048561" "0" "70" "6" "18134121" "18134121" "subst" "2.4372E-5" "00006" "TPMT_000150" "g.18134121C>T" "1/548" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "" "" "Unknown" "" "rs9333570" "0" "" "" "g.18133890C>T" "" "likely benign (!)" "" "0000048562" "0" "50" "6" "18132394" "18132394" "subst" "0" "00006" "TPMT_000360" "g.18132394C>T" "1/548 chromosomes" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "" "published as TPMT*31" "Unknown" "" "" "0" "" "" "g.18132163C>T" "" "VUS" "" "0000048563" "21" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Tai 1996:08644731}, {OMIM187680:0002}" "MwoI-" "" "undetectable TPMT catalytic activity" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048564" "21" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Tai 1996:08644731}, {OMIM187680:0002}" "AccI+" "" "undetectable TPMT catalytic activity" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048565" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/29 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048566" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/29 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048567" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/283 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048568" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/283 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048569" "11" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048570" "21" "90" "6" "18131012" "18131012" "subst" "2.84361E-5" "00006" "TPMT_000040" "g.18131012C>T" "" "{PMID:Otterness 1998:09486974}, {OMIM187680:0003}" "" "IVS9-1G>A" "" "Germline" "" "rs1800584" "0" "" "" "g.18130781C>T" "" "benign (!)" "" "0000048571" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Schaeffeler 2003:12835738}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048572" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Schaeffeler 2003:12835738}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048573" "21" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Lindqvist 2004:15083071}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048574" "21" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Lindqvist 2004:15083071}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048575" "21" "90" "6" "18134121" "18134121" "subst" "2.4372E-5" "00006" "TPMT_000150" "g.18134121C>T" "" "{PMID:Lindqvist 2004:15083071}" "" "IVS7-1G>A" "" "Germline" "" "rs9333570" "0" "" "" "g.18133890C>T" "" "benign (!)" "" "0000048576" "11" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Lindqvist 2004:15083071}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048577" "21" "90" "6" "18134115" "18134115" "subst" "8.12367E-6" "00006" "TPMT_000230" "g.18134115G>C" "" "{PMID:Lindqvist 2007:17885628}, {OMIM187680:0007}" "" "" "" "Germline" "" "rs74423290" "0" "" "" "g.18133884G>C" "" "benign (!)" "" "0000048578" "10" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Lindqvist 2007:17885628}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048579" "1" "90" "6" "18132409" "18132409" "subst" "0" "00006" "TPMT_000226" "g.18132409C>T" "" "{PMID:de Beaumais 2009:19917002}" "" "IVS8-1G>A" "" "Germline" "" "" "0" "" "" "g.18132178C>T" "" "benign (!)" "" "0000048580" "2" "10" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "" "{PMID:de Beaumais 2009:19917002}" "" "" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "benign" "" "0000048581" "2" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "" "{PMID:de Beaumais 2009:19917002}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048582" "21" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Torres 2010:20186941}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048583" "21" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Torres 2010:20186941}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048584" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Landy 2010:20945351}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048585" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Landy 2010:20945351}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048586" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "16/248 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048587" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "2/99 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0002}" "" "" "no *2, *3B/C alleles detected" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048588" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/248 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048589" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/248 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048590" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/248 controls" "{PMID:Collie-Duguid 1999:10208641}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048591" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Kurzawski 2005:15819814}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048592" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Kurzawski 2005:15819814}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048593" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Leipold 1997:15819814}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048594" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Leipold 1997:15819814}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048595" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Leipold 1997:15819814}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048596" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048597" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048598" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048599" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048600" "2" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "" "{PMID:de la Moureyre 1998:09711875}" "" "" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048601" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048602" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048603" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048604" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048605" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048606" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048607" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048608" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048609" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Colombel 2000:10833476}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048610" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "5/1214 ind." "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048611" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "5/1214 ind." "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048612" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "5/1214 ind." "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048613" "2" "90" "6" "18148076" "18148076" "subst" "1.21861E-5" "00006" "TPMT_000180" "g.18148076C>T" "2/1214 ind." "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "" "0" "" "" "g.18147845C>T" "" "benign (!)" "" "0000048614" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "2/1214 ind." "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048615" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "0.045" "{PMID:Schaeffeler 2004:15226673}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048616" "2" "10" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "13/192 ind." "{PMID:Sasaki 2006:16946561}" "" "" "" "Germline" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "benign" "" "0000048617" "2" "10" "6" "18148019" "18148019" "subst" "0.51935" "00006" "TPMT_000016" "g.18148019G>A" "36/197 ind." "{PMID:Sasaki 2006:16946561}" "" "IVS4+35T>C" "" "Germline" "" "rs4449636" "0" "" "" "g.18147788G>A" "" "benign" "" "0000048618" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "17/22" "{PMID:Tai 1996:08644731}" "AccI+" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048619" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Tai 1996:08644731}, {OMIM187680:0002}" "MwoI-" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048620" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Tai 1996:08644731}, {OMIM187680:0002}" "AccI+" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048621" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Tai 1996:08644731}, {OMIM187680:0002}" "AccI+" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048622" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Szumlanski 1996:08561894}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048623" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/217 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0005}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048624" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "16/199 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048625" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/199 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048626" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/199 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048627" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/199 controls" "{PMID:Ameyaw 1999:09931345}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048628" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "3/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048629" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "3/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048630" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "3/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048631" "2" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "1/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048632" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048633" "2" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "1/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048634" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048635" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/6 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048636" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "18/21 cases" "{PMID:Yates 1997:09103127}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048637" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "2/248 controls" "{PMID:Hon 1999:09931346}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048638" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "16/29 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048639" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "4/25 samples" "{PMID:Otterness 1997:09246020}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048640" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048641" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048642" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048643" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048644" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048645" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048646" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Otterness 1998:09486974}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048647" "2" "90" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "{PMID:Szumlanski 1996:08561894}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048648" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Szumlanski 1996:08561894}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048649" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "{PMID:Szumlanski 1996:08561894}, {OMIM187680:0002}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048650" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "18/548" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "" "" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048651" "0" "50" "6" "18148247" "18148247" "subst" "0" "00006" "TPMT_000034" "g.18148247T>A" "" "" "" "" "" "Germline" "" "rs12529220" "0" "" "" "g.18148016T>A" "" "VUS" "" "0000048652" "0" "30" "6" "18149526" "18149526" "subst" "0" "00006" "TPMT_000006" "g.18149526C>T" "" "{PMID:Roberts 2014:24710034}" "" "rs3930696" "" "Unknown" "" "rs3930696" "0" "" "" "g.18149295C>T" "" "likely benign" "" "0000048653" "0" "30" "6" "18148247" "18148247" "subst" "0" "00006" "TPMT_000034" "g.18148247T>A" "" "{PMID:Roberts 2014:24710034}" "" "rs12529220" "" "Unknown" "" "rs12529220" "0" "" "" "g.18148016T>A" "" "likely benign" "" "0000048654" "0" "30" "6" "18148019" "18148019" "subst" "0.51935" "00006" "TPMT_000016" "g.18148019G>A" "" "{PMID:Roberts 2014:24710034}" "" "rs4449636" "" "Unknown" "" "rs4449636" "0" "" "" "g.18147788G>A" "" "likely benign (!)" "" "0000048655" "0" "30" "6" "18143769" "18143769" "subst" "0" "00006" "TPMT_000035" "g.18143769A>G" "" "{PMID:Roberts 2014:24710034}" "" "rs2518463" "" "Unknown" "" "rs2518463" "0" "" "" "g.18143538A>G" "" "likely benign" "" "0000048656" "0" "30" "6" "18128659" "18128659" "subst" "0" "00006" "TPMT_000306" "g.18128659T>A" "" "{PMID:Roberts 2014:24710034}" "" "rs7886" "" "Unknown" "" "rs7886" "0" "" "" "g.18128428T>A" "" "likely benign" "" "0000048657" "0" "30" "6" "18128999" "18128999" "subst" "0" "00006" "TPMT_000307" "g.18128999T>G" "" "{PMID:Roberts 2014:24710034}" "" "rs1142378" "" "Unknown" "" "rs1142378" "0" "" "" "g.18128768T>G" "" "likely benign" "" "0000048658" "0" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "" "{PMID:Roberts 2014:24710034}" "" "rs2842934" "variant from TPMT*1S haplotype\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048659" "0" "50" "6" "18148087" "18148087" "subst" "0" "00006" "TPMT_000350" "g.18148087A>G" "1/548 chromosomes" "{PMID:Skrzypczak-Zielinska 2013:23252704}" "" "" "published as TPMT*30" "Unknown" "" "" "0" "" "" "g.18147856A>G" "" "VUS" "" "0000048879" "0" "50" "6" "18155397" "18155397" "subst" "0" "00006" "TPMT_000012" "g.18155397G>A" "" "" "" "" "reference haplotype TPMT*1A" "Germline" "-" "" "0" "" "" "g.18155166G>A" "" "VUS" "" "0000048880" "0" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "" "" "" "" "reference haplotype TPMT*1S" "Germline" "-" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048881" "1" "99" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "" "" "" "" "reference haplotype TPMT*2; no activity" "Germline" "-" "rs1800462" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048882" "0" "30" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "" "" "" "reference haplotype TPMT*3A" "Germline" "-" "rs1800460" "0" "" "" "g.18138997C>T" "" "likely benign" "" "0000048883" "0" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "" "" "" "reference haplotype TPMT*3A; reduced activity" "Germline" "-" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048884" "1" "99" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "" "" "" "reference haplotype TPMT*3B; no activity" "Germline" "-" "rs1800460" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000048885" "1" "99" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "" "" "" "reference haplotype TPMT*3C; no activity" "Germline" "-" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048886" "0" "30" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "" "" "" "reference haplotype TPMT*3D" "Germline" "-" "rs1800460" "0" "" "" "g.18138997C>T" "" "likely benign" "" "0000048887" "0" "30" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "" "" "" "reference haplotype TPMT*3D" "Germline" "-" "rs1142345" "0" "" "" "g.18130687T>C" "" "likely benign" "" "0000048888" "0" "30" "6" "18143901" "18143901" "subst" "0.000121887" "00006" "TPMT_000032" "g.18143901C>A" "" "" "" "" "reference haplotype TPMT*3D" "Germline" "-" "rs72552739" "0" "" "" "g.18143670C>A" "" "likely benign" "" "0000048889" "0" "30" "6" "18139214" "18139214" "subst" "0.760973" "00006" "TPMT_000011" "g.18139214G>A" "" "" "" "" "reference haplotype TPMT*3E" "Germline" "-" "rs2842934" "0" "" "" "g.18138983G>A" "" "likely benign" "" "0000048890" "0" "30" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "" "" "" "" "reference haplotype TPMT*3E" "Germline" "-" "rs1800460" "0" "" "" "g.18138997C>T" "" "likely benign" "" "0000048891" "0" "30" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "" "" "" "" "reference haplotype TPMT*3E; reduced activity" "Germline" "-" "rs1142345" "0" "" "" "g.18130687T>C" "" "likely benign" "" "0000048892" "0" "90" "6" "18149105" "18149105" "subst" "0" "00006" "TPMT_000033" "g.18149105A>T" "" "" "" "" "reference haplotype TPMT*3E" "Germline" "-" "rs3931660" "0" "" "" "g.18148874A>T" "" "benign (!)" "" "0000048893" "0" "30" "6" "18148247" "18148247" "subst" "0" "00006" "TPMT_000034" "g.18148247T>A" "" "" "" "" "reference haplotype TPMT*3E" "Germline" "-" "rs12529220" "0" "" "" "g.18148016T>A" "" "likely benign" "" "0000048894" "0" "30" "6" "18143769" "18143769" "subst" "0" "00006" "TPMT_000035" "g.18143769A>G" "" "" "" "" "reference haplotype TPMT*3E" "Germline" "-" "rs2518463" "0" "" "" "g.18143538A>G" "" "likely benign" "" "0000048895" "0" "90" "6" "18131012" "18131012" "subst" "2.84361E-5" "00006" "TPMT_000040" "g.18131012C>T" "" "" "" "" "reference haplotype TPMT*4" "Germline" "-" "rs1800584" "0" "" "" "g.18130781C>T" "" "benign (!)" "" "0000048896" "0" "90" "6" "18148141" "18148141" "subst" "0" "00006" "TPMT_000050" "g.18148141A>G" "" "" "" "" "reference haplotype TPMT*5" "Germline" "-" "rs72552740" "0" "" "" "g.18147910A>G" "" "benign (!)" "" "0000048897" "0" "90" "6" "18134076" "18134076" "subst" "0.000178721" "00006" "TPMT_000060" "g.18134076T>A" "" "" "" "" "reference haplotype TPMT*6" "Germline" "-" "rs75543815" "0" "" "" "g.18133845T>A" "" "benign (!)" "" "0000048898" "0" "90" "6" "18130956" "18130956" "subst" "0" "00006" "TPMT_000070" "g.18130956A>C" "" "" "" "" "reference haplotype TPMT*7" "Germline" "-" "rs72552736" "0" "" "" "g.18130725A>C" "" "benign (!)" "" "0000048899" "0" "50" "6" "18130993" "18130993" "subst" "0.00165724" "00006" "TPMT_000080" "g.18130993C>T" "" "" "" "" "reference haplotype TPMT*8" "Germline" "-" "rs56161402" "0" "" "" "g.18130762C>T" "" "VUS" "" "0000048900" "0" "50" "6" "18143837" "18143837" "subst" "0.000349639" "00006" "TPMT_000090" "g.18143837T>G" "" "" "" "" "reference haplotype TPMT*9" "Germline" "-" "rs151149760" "0" "" "" "g.18143606T>G" "" "VUS" "" "0000048901" "0" "90" "6" "18139258" "18139258" "subst" "0" "00006" "TPMT_000100" "g.18139258C>G" "" "" "" "" "reference haplotype TPMT*10" "Germline" "-" "rs72552737" "0" "" "" "g.18139027C>G" "" "benign (!)" "" "0000048902" "0" "90" "6" "18139920" "18139920" "subst" "0" "00006" "TPMT_000110" "g.18139920C>T" "" "" "" "" "reference haplotype TPMT*11" "Germline" "-" "rs72552738" "0" "" "" "g.18139689C>T" "" "benign (!)" "" "0000048903" "0" "90" "6" "18139941" "18139941" "subst" "0.000142441" "00006" "TPMT_000120" "g.18139941G>A" "" "" "" "" "reference haplotype TPMT*12" "Germline" "-" "rs200220210" "0" "" "" "g.18139710G>A" "" "benign (!)" "" "0000048904" "0" "90" "6" "18149276" "18149276" "subst" "0" "00006" "TPMT_000130" "g.18149276T>A" "" "" "" "" "reference haplotype TPMT*13" "Germline" "-" "rs72552742" "0" "" "" "g.18149045T>A" "" "benign (!)" "" "0000048905" "0" "90" "6" "18149358" "18149358" "subst" "0" "00006" "TPMT_000140" "g.18149358T>C" "" "" "" "" "reference haplotype TPMT*14" "Germline" "-" "rs9333569" "0" "" "" "g.18149127T>C" "" "benign (!)" "" "0000048906" "0" "90" "6" "18134121" "18134121" "subst" "2.4372E-5" "00006" "TPMT_000150" "g.18134121C>T" "" "" "" "" "reference haplotype TPMT*15" "Germline" "-" "rs9333570" "0" "" "" "g.18133890C>T" "" "benign (!)" "" "0000048907" "0" "90" "6" "18139200" "18139200" "subst" "0.000634378" "00006" "TPMT_000160" "g.18139200C>T" "" "" "" "" "reference haplotype TPMT*16" "Germline" "-" "rs144041067" "0" "" "" "g.18138969C>T" "" "benign (!)" "" "0000048908" "0" "90" "6" "18149235" "18149235" "subst" "0" "00006" "TPMT_000170" "g.18149235G>C" "" "" "" "" "reference haplotype TPMT*17" "Germline" "-" "" "0" "" "" "g.18149004G>C" "" "benign (!)" "" "0000048909" "0" "90" "6" "18148076" "18148076" "subst" "1.21861E-5" "00006" "TPMT_000180" "g.18148076C>T" "" "" "" "" "reference haplotype TPMT*18" "Germline" "-" "" "0" "" "" "g.18147845C>T" "" "benign (!)" "" "0000048910" "0" "30" "6" "18143828" "18143828" "subst" "0" "00006" "TPMT_000190" "g.18143828T>G" "" "" "" "" "reference haplotype TPMT*19" "Germline" "-" "" "0" "" "" "g.18143597T>G" "" "likely benign" "" "0000048911" "0" "90" "6" "18130925" "18130925" "subst" "2.84386E-5" "00006" "TPMT_000200" "g.18130925T>C" "" "" "" "" "reference haplotype TPMT*20" "Germline" "-" "rs150900439" "0" "" "" "g.18130694T>C" "" "benign (!)" "" "0000048912" "0" "90" "6" "18148082" "18148082" "subst" "3.65601E-5" "00006" "TPMT_000210" "g.18148082G>C" "" "" "" "" "reference haplotype TPMT*21" "Germline" "-" "rs200591577" "0" "" "" "g.18147851G>C" "" "benign (!)" "" "0000048913" "0" "90" "6" "18139200" "18139200" "subst" "0" "00006" "TPMT_000220" "g.18139200C>G" "" "" "" "" "reference haplotype TPMT*22" "Germline" "-" "" "0" "" "" "g.18138969C>G" "" "benign (!)" "" "0000048914" "0" "90" "6" "18134115" "18134115" "subst" "8.12367E-6" "00006" "TPMT_000230" "g.18134115G>C" "" "" "" "" "reference haplotype TPMT*23" "Germline" "-" "rs74423290" "0" "" "" "g.18133884G>C" "" "benign (!)" "" "0000048915" "0" "50" "6" "18134078" "18134078" "subst" "0.00162881" "00006" "TPMT_000240" "g.18134078C>A" "" "" "" "" "reference haplotype TPMT*24" "Germline" "-" "rs6921269" "0" "" "" "g.18133847C>A" "" "VUS" "" "0000048916" "0" "70" "6" "18131003" "18131003" "subst" "0" "00006" "TPMT_000250" "g.18131003A>G" "" "" "" "" "reference haplotype TPMT*25" "Germline" "-" "rs377085266" "0" "" "" "g.18130772A>G" "" "likely benign (!)" "" "0000048917" "0" "90" "6" "18132367" "18132367" "subst" "2.43669E-5" "00006" "TPMT_000260" "g.18132367A>G" "" "" "" "" "reference haplotype TPMT*26" "Germline" "-" "rs72556347" "0" "" "" "g.18132136A>G" "" "benign (!)" "" "0000048918" "0" "90" "6" "18143874" "18143874" "subst" "0" "00006" "TPMT_000270" "g.18143874A>C" "" "" "" "" "reference haplotype TPMT*27" "Germline" "-" "" "0" "" "" "g.18143643A>C" "" "benign (!)" "" "0000048919" "0" "90" "6" "18143844" "18143844" "subst" "0" "00006" "TPMT_000280" "g.18143844C>G" "" "" "" "" "reference haplotype TPMT*28" "Germline" "-" "" "0" "" "" "g.18143613C>G" "" "benign (!)" "" "0000048920" "0" "50" "6" "18149357" "18149357" "subst" "2.03092E-5" "00006" "TPMT_000290" "g.18149357A>G" "" "" "" "" "reference haplotype TPMT*29" "Germline" "-" "rs267607275" "0" "" "" "g.18149126A>G" "" "VUS" "" "0000048921" "0" "50" "6" "18149253" "18149253" "subst" "3.24899E-5" "00006" "TPMT_000300" "g.18149253C>T" "" "" "" "" "reference haplotype TPMT*30; old TPMT*20/*24" "Germline" "-" "" "0" "" "" "g.18149022C>T" "" "VUS" "" "0000048922" "0" "90" "6" "18132378" "18132378" "subst" "4.06111E-6" "00006" "TPMT_000310" "g.18132378A>G" "" "" "" "" "reference haplotype TPMT*31; old TPMT*28" "Germline" "-" "rs79901429" "0" "" "" "g.18132147A>G" "" "benign (!)" "" "0000048923" "0" "70" "6" "18143853" "18143853" "subst" "1.62598E-5" "00006" "TPMT_000320" "g.18143853C>T" "" "" "" "" "reference haplotype TPMT*32" "Germline" "-" "rs115106679" "0" "" "" "g.18143622C>T" "" "likely benign (!)" "" "0000048924" "0" "70" "6" "18139201" "18139201" "subst" "0.000146374" "00006" "TPMT_000330" "g.18139201G>A" "" "" "" "" "reference haplotype TPMT*33" "Germline" "-" "rs112339338" "0" "" "" "g.18138970G>A" "" "likely benign (!)" "" "0000048925" "0" "70" "6" "18143949" "18143949" "subst" "7.72213E-5" "00006" "TPMT_000340" "g.18143949G>A" "" "" "" "" "reference haplotype TPMT*34" "Germline" "-" "rs111901354" "0" "" "" "g.18143718G>A" "" "likely benign (!)" "" "0000048926" "0" "70" "6" "18148087" "18148087" "subst" "0" "00006" "TPMT_000350" "g.18148087A>G" "" "" "" "" "reference haplotype TPMT*35" "Germline" "-" "" "0" "" "" "g.18147856A>G" "" "likely benign (!)" "" "0000048927" "0" "70" "6" "18132394" "18132394" "subst" "0" "00006" "TPMT_000360" "g.18132394C>T" "" "" "" "" "reference haplotype TPMT*36" "Germline" "-" "" "0" "" "" "g.18132163C>T" "" "likely benign (!)" "" "0000048928" "0" "90" "6" "18130989" "18130989" "subst" "3.65539E-5" "00006" "TPMT_000370" "g.18130989A>T" "" "" "" "" "reference haplotype TPMT*37" "Germline" "-" "rs398122996" "0" "" "" "g.18130758A>T" "" "benign (!)" "" "0000048929" "1" "90" "6" "18143837" "18143837" "subst" "0.000349639" "00006" "TPMT_000090" "g.18143837T>G" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "" "activity 7.4 units (mercaptopurine derived TGNs 502 pmol at 67 mg/m-2 mercaptopurine); haplotype TPMT*1/*9" "Germline" "" "rs151149760" "0" "" "" "g.18143606T>G" "" "benign (!)" "" "0000048930" "1" "90" "6" "18148082" "18148082" "subst" "3.65601E-5" "00006" "TPMT_000210" "g.18148082G>C" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "" "activity 6.8 units (mercaptopurine derived TGNs 4060 pmol at 41 mg/m-2 mercaptopurine); haplotype TPMT*1/*21" "Germline" "" "rs200591577" "0" "" "" "g.18147851G>C" "" "benign (!)" "" "0000048931" "1" "30" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "100/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "" "haplotype TPMT*1/*3A" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "likely benign" "" "0000048932" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "100/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "" "haplotype TPMT*1/*3A" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048933" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "17/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "" "haplotype TPMT*1/*3C" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048934" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "4/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "TPMT*1/*2" "haplotype TPMT*1/*2" "Germline" "" "" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048935" "3" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "TPMT*3A/*3A" "haplotype TPMT*3A/*3A" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000048936" "3" "30" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "TPMT*3A/*3A" "haplotype TPMT*3A/*3A" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "likely benign" "" "0000048937" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "00006" "TPMT_000020" "g.18143955C>G" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "TPMT*2" "haplotype TPMT*2/*3A" "Germline" "" "" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000048938" "2" "30" "6" "18139228" "18139228" "subst" "0.0280883" "00006" "TPMT_000030" "g.18139228C>T" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "TPMT*3A" "haplotype TPMT*2/*3A" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "likely benign" "" "0000048939" "2" "90" "6" "18130918" "18130918" "subst" "0.0366122" "00006" "TPMT_000031" "g.18130918T>C" "1/1137 individuals" "{PMID:Lennard 2013:23252716}" "" "TPMT*3A" "haplotype TPMT*2/*3A" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000312002" "0" "10" "6" "18139214" "18139214" "subst" "0.760973" "02325" "TPMT_000011" "g.18139214G>A" "" "" "" "TPMT(NM_000367.5):c.474C>T (p.I158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18138983G>A" "" "benign" "" "0000312003" "0" "10" "6" "18134021" "18134021" "delins" "0" "02325" "TPMT_000371" "g.18134021delinsAA" "" "" "" "TPMT(NM_000367.5):c.580+14delGinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18133790delinsAA" "" "benign" "" "0000313486" "0" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02329" "TPMT_000030" "g.18139228C>T" "" "" "" "TPMT(NM_000367.5):c.460G>A (p.A154T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18138997C>T" "" "pathogenic" "" "0000410580" "1" "90" "6" "18143955" "18143955" "subst" "0.00171913" "02562" "TPMT_000020" "g.18143955C>G" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18143724C>G" "" "benign (!)" "" "0000410581" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410582" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410583" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410584" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410585" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410586" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410587" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410588" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410589" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410590" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410591" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410592" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410593" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410594" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410595" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410596" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410597" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410598" "1" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410599" "3" "90" "6" "18139228" "18139228" "subst" "0.0280883" "02562" "TPMT_000030" "g.18139228C>T" "" "IP3 project, submitted" "" "" "poor metabolizer" "Germline" "" "" "0" "" "" "g.18138997C>T" "" "benign (!)" "" "0000410600" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410601" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410602" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410603" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410604" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410605" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410606" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410607" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410608" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410609" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410610" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410611" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410612" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410613" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410614" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410615" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410616" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410617" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410618" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410619" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410620" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410621" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410622" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410623" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410624" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410625" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410626" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410627" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410628" "1" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "intermediate metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000410629" "3" "90" "6" "18130918" "18130918" "subst" "0.0366122" "02562" "TPMT_000031" "g.18130918T>C" "" "IP3 project, submitted" "" "" "poor metabolizer" "Germline" "" "" "0" "" "" "g.18130687T>C" "" "benign (!)" "" "0000528077" "0" "50" "6" "18143955" "18143955" "subst" "0.00171913" "01943" "TPMT_000020" "g.18143955C>G" "" "" "" "TPMT(NM_000367.4):c.238G>C (p.A80P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18143724C>G" "" "VUS" "" "0000651893" "1" "50" "6" "18131012" "18131012" "subst" "2.84361E-5" "03575" "TPMT_000040" "g.18131012C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 1 heterozygous, no homozygous; {DB:CLININrs1800584}" "Germline" "" "rs1800584" "0" "" "" "g.18130781C>T" "" "VUS" "" "0000651894" "1" "30" "6" "18139228" "18139228" "subst" "0.0280883" "03575" "TPMT_000030" "g.18139228C>T" "33/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs1800460}" "Germline" "" "rs1800460" "0" "" "" "g.18138997C>T" "" "likely benign" "" "0000683235" "0" "90" "6" "18134101" "18134101" "subst" "2.84299E-5" "00006" "TPMT_000374" "g.18134101A>G" "" "" "" "" "reference haplotype TPMT*38" "Germline" "" "rs772832951" "0" "" "" "g.18133870A>G" "" "benign (!)" "" "0000683236" "0" "90" "6" "18148069" "18148069" "subst" "8.12434E-6" "00006" "TPMT_000375" "g.18148069G>A" "" "" "" "" "reference haplotype TPMT*39" "Germline" "" "rs281874771" "0" "" "" "g.18147838G>A" "" "benign (!)" "" "0000683237" "0" "90" "6" "18130960" "18130960" "subst" "6.4992E-5" "00006" "TPMT_000376" "g.18130960C>T" "" "" "" "" "reference haplotype TPMT*40" "Germline" "" "rs139392616" "0" "" "" "g.18130729C>T" "" "benign (!)" "" "0000683238" "0" "90" "6" "18130918" "18130918" "subst" "0" "00006" "TPMT_000377" "g.18130918T>G" "" "" "" "" "reference haplotype TPMT*41" "Germline" "" "rs1142345" "0" "" "" "g.18130687T>G" "" "benign (!)" "" "0000683239" "0" "90" "6" "18149264" "18149264" "dup" "0" "00006" "TPMT_000378" "g.18149264dup" "" "" "" "95_96insA" "reference haplotype TPMT*42" "Germline" "" "rs759836180" "0" "" "" "g.18149033dup" "" "benign (!)" "" "0000683240" "1" "90" "6" "18143959" "18143959" "subst" "1.21912E-5" "00006" "TPMT_000380" "g.18143959C>A" "" "" "" "" "reference haplotype TPMT*43" "Germline" "" "" "0" "" "" "g.18143728C>A" "{CV-SCV:000778514}" "benign (!)" "" "0000683241" "0" "90" "6" "18134118" "18134118" "subst" "4.06171E-6" "00006" "TPMT_000379" "g.18134118T>C" "" "" "" "" "reference haplotype TPMT*44" "Germline" "" "rs201695576" "0" "" "" "g.18133887T>C" "{CV-SCV:000778516}" "benign (!)" "" "0000683242" "1" "90" "6" "18143931" "18143931" "subst" "1.21871E-5" "00006" "TPMT_000381" "g.18143931C>T" "" "" "" "" "reference haplotype TPMT*43" "Germline" "" "rs753545734" "0" "" "" "g.18143700C>T" "{CV-SCV:000778515}" "benign (!)" "" "0000802452" "0" "30" "6" "18139925" "18139925" "subst" "0" "01943" "TPMT_000382" "g.18139925C>T" "" "" "" "TPMT(NM_001346817.1):c.390G>A (p.L130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 TPMT ## Count = 395 "{{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}}" "0000039961" "00021695" "70" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.Tyr240Cys" "9" "TPMT*3C" "0000039962" "00021695" "90" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.Leu49Ser" "3" "TPMT*5" "0000039963" "00021695" "50" "430" "0" "430" "0" "c.430G>C" "r.(?)" "p.Gly144Arg" "6" "TPMT*10" "0000039964" "00021695" "50" "681" "0" "681" "0" "c.681T>G" "r.(?)" "p.His227Gln" "9" "TPMT*7" "0000039965" "00021695" "90" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.Leu49Ser" "3" "TPMT*5" "0000039966" "00021695" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "2" "TPMT*14" "0000039967" "00021695" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.Gly71Arg" "3" "TPMT*18" "0000039968" "00021695" "90" "238" "0" "238" "0" "c.238G>C" "r.(?)" "p.Ala80Pro" "4" "TPMT*2" "0000039969" "00021695" "90" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.Ser125Leu" "5" "TPMT*12" "0000039970" "00021695" "30" "356" "0" "356" "0" "c.356A>C" "r.(?)" "p.Lys119Thr" "4" "TPMT*9" "0000039971" "00021695" "30" "537" "0" "537" "0" "c.537G>T" "r.(?)" "p.Gln179His" "7" "TPMT*24" "0000039972" "00021695" "90" "634" "0" "634" "0" "c.634T>C" "r.(?)" "p.Cys212Arg" "9" "TPMT*25" "0000039973" "00021695" "90" "205" "0" "205" "0" "c.205C>G" "r.(?)" "p.Leu69Val" "3" "TPMT*21" "0000039974" "00021695" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.Ala154Thr" "6" "TPMT*3B" "0000039975" "00021695" "90" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.Tyr240Cys" "9" "TPMT*3C" "0000039976" "00021695" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.Ala154Thr" "6" "TPMT*3B" "0000039977" "00021695" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.Ala154Thr" "6" "TPMT*3B" "0000039978" "00021695" "90" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.Tyr240Cys" "9" "TPMT*3C" "0000039979" "00021695" "90" "539" "0" "539" "0" "c.539A>T" "r.(?)" "p.Tyr180Phe" "7" "TPMT*6" "0000039980" "00021695" "90" "681" "0" "681" "0" "c.681T>G" "r.(?)" "p.His227Gln" "9" "TPMT*7" "0000039981" "00021695" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.Arg215His" "9" "TPMT*8" "0000039982" "00021695" "90" "430" "0" "430" "0" "c.430G>C" "r.(?)" "p.Gly144Arg" "6" "TPMT*10" "0000039983" "00021695" "70" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.Cys132Tyr" "5" "TPMT*11" "0000039984" "00021695" "70" "83" "0" "83" "0" "c.83A>T" "r.(?)" "p.Glu28Val" "2" "TPMT*13" "0000039985" "00021695" "70" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.Arg163His" "6" "TPMT*16" "0000039986" "00021695" "90" "124" "0" "124" "0" "c.124C>G" "r.(?)" "p.Gln42Glu" "2" "TPMT*17" "0000039987" "00021695" "90" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.Lys238Glu" "9" "TPMT*20" "0000039988" "00021695" "90" "205" "0" "205" "0" "c.205C>G" "r.(?)" "p.Leu69Val" "3" "TPMT*21" "0000039989" "00021695" "90" "488" "0" "488" "0" "c.488G>C" "r.(?)" "p.Arg163Pro" "6" "TPMT*22" "0000039990" "00021695" "90" "500" "0" "500" "0" "c.500C>G" "r.(?)" "p.Ala167Gly" "7" "TPMT*23" "0000039991" "00021695" "90" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.Gly36Ser" "2" "TPMT*30" "0000048421" "00021695" "30" "-182" "0" "-149" "0" "c.-182_-149del" "r.(=)" "p.(=)" "_1" "TPMT*V4" "0000048422" "00021695" "30" "-165" "0" "-149" "0" "c.-165_-149del" "r.(=)" "p.(=)" "_1" "TPMT*V5" "0000048423" "00021695" "30" "-235" "0" "-149" "0" "c.-235_-149=" "r.(=)" "p.(=)" "_1" "TPMT*V6" "0000048424" "00021695" "30" "-235" "0" "-149" "0" "c.[-235_-218[5];-181_-149del]" "r.(=)" "p.(=)" "_1" "TPMT*V7" "0000048425" "00021695" "30" "-235" "0" "-149" "0" "c.[-235_-218[6];-181_-149del]" "r.(=)" "p.(=)" "_1" "TPMT*V8" "0000048426" "00021695" "50" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1" "TPMT*V3" "0000048427" "00021695" "30" "-182" "0" "-149" "0" "c.-182_-149del" "r.(=)" "p.(=)" "_1" "TPMT*V4" "0000048428" "00021695" "30" "-165" "0" "-149" "0" "c.-165_-149del" "r.(=)" "p.(=)" "_1" "TPMT*V5" "0000048429" "00021695" "50" "-235" "0" "-149" "0" "c.-235_-149=" "r.(=)" "p.(=)" "_1" "TPMT*V6" "0000048430" "00021695" "70" "-235" "0" "-149" "0" "c.[-235_-218[5];-181_-149del]" "r.(=)" "p.(=)" "_1" "TPMT*V7" "0000048431" "00021695" "70" "-235" "0" "-149" "0" "c.[-235_-218[6];-181_-149del]" "r.(=)" "p.(=)" "_1" "TPMT*V8" "0000048432" "00021695" "70" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1" "TPMT*V9" "0000048433" "00021695" "90" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Glu114Lys)" "4" "TPMT*32" "0000048434" "00021695" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "4" "TPMT*34" "0000048435" "00021695" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "6" "TPMT*33" "0000048436" "00021695" "50" "648" "0" "648" "0" "c.648T>A" "r.(?)" 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