### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITPA) # 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}}" "ITPA" "inosine triphosphatase (nucleoside triphosphate pyrophosphatase)" "20" "p" "unknown" "NG_012093.2" "UD_134408589094" "" "" "" "1" "6176" "3704" "147520" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ITPA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-03 09:19:35" "00000" "2025-11-01 13:22:20" ## 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}}" "00025675" "ITPA" "transcript variant 1" "002" "NM_033453.3" "" "NP_258412.1" "" "" "" "-192" "993" "585" "3190006" "3204516" "00006" "2022-01-03 09:19:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "03464" "-" "Inosine triphosphatase deficiency" "" "613850" "" "" "" "00006" "2014-09-25 23:29:40" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "06502" "EIEE35" "Epileptic encephalopathy, early infantile, 35" "AR" "616647" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ITPA" "00841" "ITPA" "03464" "ITPA" "06502" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00292910" "" "" "" "154" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304850" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00398042" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "F" "" "Kazakhstan" "" "0" "" "" "" "Pat12" "00398043" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Poland" "" "0" "" "" "" "Pat5" "00398044" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Egypt" "" "0" "" "" "" "Pat11" "00398045" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Canada" "" "0" "" "" "" "Pat27" "00398046" "" "" "" "4" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 4 affected (2F, 2M), unaffected heterozygous parents" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPat17/18/19/20" "00398048" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Turkey" "" "0" "" "" "" "Pat26" "00398049" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Saudi Arabia" "" "0" "" "" "" "Pat21" "00398050" "" "" "" "2" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "" "Australia" "" "0" "" "" "" "Fam2Pat2/3" "00398051" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Romania" "" "0" "" "" "" "Pat1" "00398052" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Pakistan" "" "0" "" "" "" "Pat13" "00398053" "" "" "" "2" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, affected brother/sister, unaffected heterozygous parents" "F;M" "" "Iran" "" "0" "" "" "" "Fam20Pat24/25" "00398054" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "" "" "" "" "" "" "" "00398055" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "United States" "" "0" "" "" "" "Pat16" "00398056" "" "" "" "1" "" "03565" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "F" "" "Honduras" "" "0" "" "" "" "Pat15" "00431568" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "50y" "0" "" "" "Europe" "SUDS068" "00435365" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Russia" "" "0" "" "" "" "Pat4" "00435366" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Poland" "" "0" "" "" "" "Pat6" "00435367" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "" "" "Spain" "" "0" "" "" "" "Pat7" "00435368" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Macedonia" "" "0" "" "" "" "Pat8" "00435369" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "United States" "" "0" "" "" "" "Pat9" "00435370" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Egypt" "" "0" "" "" "" "Pat10" "00435371" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Nepal" "" "0" "" "" "" "Pat14" "00435372" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Saudi Arabia" "" "0" "" "" "" "Pat22" "00435373" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Saudi Arabia" "" "0" "" "" "" "Pat23" "00435374" "" "" "" "1" "" "00006" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Saudi Arabia" "" "0" "" "" "" "Pat28" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00292910" "00198" "00304850" "00198" "00398042" "06502" "00398043" "06502" "00398044" "06502" "00398045" "06502" "00398046" "06502" "00398048" "06502" "00398049" "06502" "00398050" "06502" "00398051" "06502" "00398052" "06502" "00398053" "06502" "00398054" "06502" "00398055" "06502" "00398056" "06502" "00431568" "05166" "00435365" "06502" "00435366" "06906" "00435367" "06906" "00435368" "06906" "00435369" "06906" "00435370" "06906" "00435371" "06906" "00435372" "06906" "00435373" "06906" "00435374" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00841, 03464, 05166, 06502, 06906 ## Count = 25 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000291352" "00198" "00398042" "03565" "Familial, autosomal recessive" "" "see paper; ..., developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000291353" "00198" "00398043" "03565" "Familial, autosomal recessive" "" "Developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "Developmental and epileptic encephalopathy" "Developmental and epileptic encephalopathy" "" "0000291354" "00198" "00398044" "03565" "Familial, autosomal recessive" "" "see paper; ..., developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000291355" "00198" "00398045" "03565" "Familial, autosomal recessive" "" "see paper; ..., developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000291356" "00198" "00398046" "03565" "Familial, autosomal recessive" "" "see paper; ... developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000291357" "00198" "00398048" "03565" "Familial, autosomal recessive" "" "see paper; ..., developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000291358" "00198" "00398049" "03565" "Familial, autosomal recessive" "" "see paper; ..., developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000291359" "00198" "00398050" "03565" "Familial, autosomal recessive" "" "Developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "Developmental and epileptic encephalopathy" "Developmental and epileptic encephalopathy" "" "0000291360" "00198" "00398051" "03565" "Familial, autosomal recessive" "" "Developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "Developmental and epileptic encephalopathy" "Developmental and epileptic encephalopathy" "" "0000291361" "00198" "00398052" "03565" "Familial, autosomal recessive" "" "see paper; ..., developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000291362" "00198" "00398053" "03565" "Familial, autosomal recessive" "" "see paper; ..., developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000291363" "00198" "00398054" "03565" "Familial, autosomal recessive" "" "Developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "Developmental and epileptic encephalopathy" "Developmental and epileptic encephalopathy" "" "0000291364" "00198" "00398055" "03565" "Familial, autosomal recessive" "" "see paper; ..., developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000291365" "00198" "00398056" "03565" "Familial, autosomal recessive" "" "see paper; ...developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders" "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000322141" "05166" "00431568" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "" "0000325559" "06502" "00435365" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "early infantile epileptic encephalopathy" "" "0000325560" "06906" "00435366" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000325561" "06906" "00435367" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000325562" "06906" "00435368" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000325563" "06906" "00435369" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000325564" "06906" "00435370" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000325565" "06906" "00435371" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000325566" "06906" "00435372" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000325567" "06906" "00435373" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" "0000325568" "06906" "00435374" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "DEE35" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294078" "00292910" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305979" "00304850" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000399287" "00398043" "1" "03565" "03565" "2021-12-30 18:39:47" "" "" "SEQ-NG" "DNA" "" "" "0000399288" "00398044" "1" "03565" "03565" "2021-12-30 18:41:25" "" "" "SEQ-NG" "DNA" "" "" "0000399289" "00398045" "1" "03565" "03565" "2021-12-30 18:42:48" "" "" "SEQ-NG" "DNA" "" "" "0000399290" "00398046" "1" "03565" "03565" "2021-12-30 18:45:40" "" "" "SEQ-NG" "DNA" "" "" "0000399291" "00398048" "1" "03565" "03565" "2021-12-30 18:48:02" "" "" "SEQ-NG" "DNA" "" "" "0000399292" "00398049" "1" "03565" "03565" "2021-12-30 18:49:28" "" "" "SEQ-NG" "DNA" "" "" "0000399293" "00398050" "1" "03565" "03565" "2021-12-30 18:51:45" "" "" "SEQ-NG" "DNA" "" "" "0000399294" "00398051" "1" "03565" "03565" "2021-12-30 18:53:09" "" "" "SEQ-NG" "DNA" "" "" "0000399295" "00398052" "1" "03565" "03565" "2021-12-30 18:54:29" "" "" "SEQ-NG" "DNA" "" "" "0000399296" "00398053" "1" "03565" "03565" "2021-12-30 18:55:44" "" "" "SEQ-NG" "DNA" "" "" "0000399297" "00398054" "1" "03565" "03565" "2021-12-30 18:58:36" "" "" "SEQ-NG" "DNA" "" "" "0000399298" "00398055" "1" "03565" "03565" "2021-12-30 18:59:48" "" "" "SEQ-NG" "DNA" "" "" "0000399299" "00398056" "1" "03565" "03565" "2021-12-30 19:00:59" "" "" "SEQ-NG" "DNA" "" "" "0000399449" "00398042" "1" "03565" "03565" "2021-12-31 17:36:30" "03565" "2021-12-31 17:48:52" "SEQ-NG" "DNA" "" "" "0000433001" "00431568" "1" "01602" "01602" "2023-02-15 09:31:32" "" "" "SEQ-NG" "DNA" "" "" "0000436845" "00435365" "1" "00006" "00006" "2023-07-21 12:43:05" "" "" "SEQ-NG" "DNA" "" "" "0000436846" "00435366" "1" "00006" "00006" "2023-07-21 12:48:11" "" "" "SEQ-NG" "DNA" "" "" "0000436847" "00435367" "1" "00006" "00006" "2023-07-21 12:50:44" "" "" "SEQ-NG" "DNA" "" "" "0000436848" "00435368" "1" "00006" "00006" "2023-07-21 12:53:11" "" "" "SEQ-NG" "DNA" "" "" "0000436849" "00435369" "1" "00006" "00006" "2023-07-21 12:55:30" "" "" "SEQ-NG" "DNA" "" "" "0000436850" "00435370" "1" "00006" "00006" "2023-07-21 13:19:48" "" "" "SEQ-NG" "DNA" "" "" "0000436851" "00435371" "1" "00006" "00006" "2023-07-21 13:55:14" "" "" "SEQ-NG" "DNA" "" "" "0000436852" "00435372" "1" "00006" "00006" "2023-07-21 13:57:32" "" "" "SEQ-NG" "DNA" "" "" "0000436853" "00435373" "1" "00006" "00006" "2023-07-21 13:57:43" "" "" "SEQ-NG" "DNA" "" "" "0000436854" "00435374" "1" "00006" "00006" "2023-07-21 14:01:12" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000436845" "ITPA" "0000436846" "ITPA" "0000436847" "ITPA" "0000436848" "ITPA" "0000436849" "ITPA" "0000436850" "ITPA" "0000436851" "ITPA" "0000436852" "ITPA" "0000436853" "ITPA" "0000436854" "ITPA" ## 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 = 79 "{{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}}" "0000298314" "0" "10" "20" "3211719" "3211719" "subst" "0.453036" "02325" "SLC4A11_000075" "g.3211719T>G" "" "" "" "SLC4A11(NM_001174090.2):c.1172-15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3231073T>G" "" "benign" "" "0000298315" "0" "10" "20" "3209371" "3209371" "subst" "0.442583" "02325" "SLC4A11_000072" "g.3209371G>A" "" "" "" "SLC4A11(NM_001174090.2):c.2322-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3228725G>A" "" "benign" "" "0000308464" "0" "30" "20" "3210190" "3210190" "subst" "0.0031863" "01943" "SLC4A11_000074" "g.3210190G>C" "" "" "" "SLC4A11(NM_001174090.1):c.1851C>G (p.T617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3229544G>C" "" "likely benign" "" "0000308466" "0" "30" "20" "3209749" "3209749" "subst" "4.28057E-6" "01943" "SLC4A11_000073" "g.3209749C>T" "" "" "" "SLC4A11(NM_001174090.1):c.2139G>A (p.P713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3229103C>T" "" "likely benign" "" "0000308467" "0" "30" "20" "3209254" "3209254" "subst" "0.00131767" "01943" "SLC4A11_000071" "g.3209254G>A" "" "" "" "SLC4A11(NM_001174090.1):c.2421C>T (p.P807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3228608G>A" "" "likely benign" "" "0000346250" "0" "50" "20" "3209500" "3209500" "subst" "0.000317298" "02327" "SLC4A11_000077" "g.3209500C>T" "" "" "" "SLC4A11(NM_001174089.2):c.2176G>A (p.(Gly726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3228854C>T" "" "VUS" "" "0000569413" "0" "30" "20" "3208967" "3208967" "subst" "0.00247521" "01804" "ITPA_000001" "g.3208967C>T" "" "" "" "SLC4A11(NM_001174089.1):c.2496G>A (p.(Met832Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3228321C>T" "" "likely benign" "" "0000569414" "0" "30" "20" "3209072" "3209072" "subst" "0.00247398" "01804" "ITPA_000002" "g.3209072A>C" "" "" "" "SLC4A11(NM_001174089.1):c.2391T>G (p.(Thr797=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3228426A>C" "" "likely benign" "" "0000569415" "0" "90" "20" "3209075" "3209075" "subst" "8.13988E-6" "01943" "SLC4A11_000049" "g.3209075C>T" "" "" "" "SLC4A11(NM_001174090.1):c.2518-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3228429C>T" "" "pathogenic" "" "0000569416" "0" "30" "20" "3209357" "3209357" "subst" "0.0375201" "01804" "ITPA_000003" "g.3209357C>T" "" "" "" "SLC4A11(NM_001174089.1):c.2193-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3228711C>T" "" "likely benign" "" "0000569417" "0" "30" "20" "3209664" "3209664" "subst" "0" "01943" "ITPA_000004" "g.3209664C>A" "" "" "" "SLC4A11(NM_001174090.1):c.2148-7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229018C>A" "" "likely benign" "" "0000569418" "0" "30" "20" "3209734" "3209734" "subst" "0" "01943" "ITPA_000005" "g.3209734T>C" "" "" "" "SLC4A11(NM_001174089.1):c.2018+7A>G (p.(=)), SLC4A11(NM_001174090.1):c.2147+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229088T>C" "" "likely benign" "" "0000569419" "0" "30" "20" "3209734" "3209734" "subst" "0" "01804" "ITPA_000005" "g.3209734T>C" "" "" "" "SLC4A11(NM_001174089.1):c.2018+7A>G (p.(=)), SLC4A11(NM_001174090.1):c.2147+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229088T>C" "" "likely benign" "" "0000569420" "0" "30" "20" "3209737" "3209737" "subst" "0" "01804" "ITPA_000006" "g.3209737A>C" "" "" "" "SLC4A11(NM_001174089.1):c.2018+4T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229091A>C" "" "likely benign" "" "0000569421" "0" "30" "20" "3209739" "3209739" "subst" "0" "01804" "ITPA_000007" "g.3209739A>C" "" "" "" "SLC4A11(NM_001174089.1):c.2018+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229093A>C" "" "likely benign" "" "0000569422" "0" "30" "20" "3209869" "3209869" "subst" "0.000138512" "01943" "ITPA_000008" "g.3209869C>T" "" "" "" "SLC4A11(NM_001174090.1):c.2019G>A (p.A673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229223C>T" "" "likely benign" "" "0000569423" "0" "30" "20" "3210277" "3210277" "subst" "0.000281329" "01943" "ITPA_000009" "g.3210277C>T" "" "" "" "SLC4A11(NM_001174090.1):c.1764G>A (p.T588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229631C>T" "" "likely benign" "" "0000569424" "0" "30" "20" "3210278" "3210278" "subst" "3.26129E-5" "01943" "SLC4A11_000019" "g.3210278G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1763C>T (p.T588M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229632G>A" "" "likely benign" "" "0000569425" "0" "10" "20" "3210340" "3210340" "subst" "0.00193072" "01943" "ITPA_000010" "g.3210340G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1701C>T (p.L567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229694G>A" "" "benign" "" "0000569426" "0" "30" "20" "3210347" "3210347" "subst" "0" "01943" "ITPA_000011" "g.3210347G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1694C>T (p.S565L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229701G>A" "" "likely benign" "" "0000569427" "0" "30" "20" "3211575" "3211575" "subst" "0" "01804" "ITPA_000012" "g.3211575T>C" "" "" "" "SLC4A11(NM_001174089.1):c.1168+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3230929T>C" "" "likely benign" "" "0000569428" "0" "30" "20" "3211577" "3211577" "subst" "0" "01804" "ITPA_000013" "g.3211577A>C" "" "" "" "SLC4A11(NM_001174089.1):c.1168+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3230931A>C" "" "likely benign" "" "0000569429" "0" "30" "20" "3211834" "3211834" "subst" "8.12143E-5" "01943" "ITPA_000014" "g.3211834C>T" "" "" "" "SLC4A11(NM_001174090.1):c.1132G>A (p.A378T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3231188C>T" "" "likely benign" "" "0000618039" "0" "30" "20" "3193818" "3193818" "subst" "0" "02327" "ITPA_000016" "g.3193818G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3213172G>T" "" "likely benign" "" "0000618040" "0" "30" "20" "3193844" "3193844" "subst" "0.000203031" "02327" "ITPA_000017" "g.3193844A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3213198A>G" "" "likely benign" "" "0000618041" "0" "30" "20" "3193879" "3193879" "subst" "8.12123E-5" "02327" "ITPA_000019" "g.3193879C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3213233C>T" "" "likely benign" "" "0000618042" "0" "70" "20" "3195933" "3195933" "subst" "0" "02327" "ITPA_000020" "g.3195933G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3215287G>A" "" "likely pathogenic" "" "0000618052" "0" "30" "20" "3210062" "3210062" "subst" "0.000479897" "01943" "ITPA_000022" "g.3210062G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1908C>T (p.S636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229416G>A" "" "likely benign" "" "0000618053" "0" "30" "20" "3211846" "3211846" "subst" "0.00115331" "01943" "ITPA_000015" "g.3211846G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1120C>T (p.R374W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3231200G>A" "" "likely benign" "" "0000624143" "0" "30" "20" "3193872" "3193872" "subst" "0.000357334" "02325" "ITPA_000018" "g.3193872C>T" "" "" "" "ITPA(NM_001324240.2):c.124C>T (p.L42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3213226C>T" "" "likely benign" "" "0000624146" "0" "30" "20" "3209815" "3209815" "subst" "0.000138841" "01943" "ITPA_000021" "g.3209815G>A" "" "" "" "SLC4A11(NM_001174090.1):c.2073C>T (p.L691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229169G>A" "" "likely benign" "" "0000650767" "1" "50" "20" "3193893" "3193893" "subst" "0.0872595" "03575" "ITPA_000023" "g.3193893A>C" "154/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 154 heterozygous; {DB:CLININrs7270101}" "Germline" "" "rs7270101" "0" "" "" "g.3213247A>C" "" "VUS" "" "0000669667" "3" "50" "20" "3193893" "3193893" "subst" "0.0872595" "03575" "ITPA_000023" "g.3193893A>C" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 6 homozygous; {DB:CLININrs7270101}" "Germline" "" "rs7270101" "0" "" "" "g.3213247A>C" "" "VUS" "" "0000681590" "0" "50" "20" "3211307" "3211307" "del" "0" "01943" "ITPA_000024" "g.3211307del" "" "" "" "SLC4A11(NM_001174090.1):c.1412-10delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681591" "0" "30" "20" "3211714" "3211714" "subst" "0.00214587" "01943" "ITPA_000025" "g.3211714G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1172-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692961" "0" "50" "20" "3210219" "3210219" "subst" "8.1606E-6" "01943" "ITPA_000026" "g.3210219T>C" "" "" "" "SLC4A11(NM_001174090.1):c.1822A>G (p.M608V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692962" "0" "50" "20" "3212022" "3212022" "subst" "0.000134018" "01943" "ITPA_000027" "g.3212022G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1031C>T (p.T344M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727648" "0" "50" "20" "3209353" "3209353" "subst" "0.00144349" "01943" "ITPA_000028" "g.3209353C>G" "" "" "" "SLC4A11(NM_001174090.1):c.2322G>C (p.T774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727649" "0" "30" "20" "3209767" "3209767" "subst" "8.71384E-5" "01943" "ITPA_000029" "g.3209767G>A" "" "" "" "SLC4A11(NM_001174090.1):c.2121C>T (p.A707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727650" "0" "30" "20" "3210056" "3210056" "subst" "0.000935469" "01943" "ITPA_000030" "g.3210056G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1914C>T (p.C638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831814" "1" "90" "20" "3193814" "3193814" "subst" "0" "03565" "ITPA_000045" "g.3193814G>A" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3213168G>A" "" "pathogenic (recessive)" "" "0000831817" "3" "90" "20" "3193873" "3193873" "subst" "1.21818E-5" "03565" "ITPA_000044" "g.3193873G>A" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3213227G>A" "" "pathogenic (recessive)" "" "0000831819" "3" "90" "20" "3193873" "3193873" "subst" "8.12117E-6" "03565" "ITPA_000032" "g.3193873G>C" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3213227G>C" "" "pathogenic (recessive)" "" "0000831820" "1" "90" "20" "3193982" "3193982" "del" "0" "03565" "ITPA_000033" "g.3193982del" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "139delG" "" "Germline" "" "" "0" "" "" "g.3213336del" "" "pathogenic" "" "0000831821" "3" "90" "20" "3194656" "3194656" "" "0" "03565" "ITPA_000034" "g.3194656A>G" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "yes" "" "0" "" "" "g.3214010A>G" "" "pathogenic (recessive)" "" "0000831822" "3" "90" "20" "3194691" "3194691" "" "0" "03565" "ITPA_000035" "g.3194691C>A" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" ":g.3214045C>A" "" "pathogenic (recessive)" "" "0000831823" "3" "90" "20" "3194694" "3194694" "" "0" "03565" "ITPA_000036" "g.3194694G>A" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3214048G>A" "" "pathogenic (recessive)" "" "0000831824" "1" "90" "20" "3195934" "3195934" "" "0" "03565" "ITPA_000037" "g.3195934T>C" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3215288T>C" "" "pathogenic (recessive)" "" "0000831825" "1" "90" "20" "3202563" "3202563" "" "8.13776E-6" "03565" "ITPA_000038" "g.3202563C>T" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3221917C>T" "" "pathogenic (recessive)" "" "0000831826" "3" "90" "20" "3202568" "3202569" "del" "0" "03565" "ITPA_000039" "g.3202568_3202569del" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "488+5delGG" "" "Germline" "" "" "0" "" "" "g.3221922_3221923del" "" "pathogenic" "" "0000831827" "3" "90" "20" "3204011" "3204011" "subst" "0" "03565" "ITPA_000041" "g.3204011G>T" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "489-1G>T or 489-2A>G" "variant reported as 489-1G>T and 489-2A>G" "Germline" "" "" "0" "" "" "g.3223365G>T" "" "pathogenic (recessive)" "" "0000831828" "0" "90" "20" "3204011" "3204011" "" "0" "03565" "ITPA_000041" "g.3204011G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000831829" "3" "90" "20" "3204042" "3204042" "del" "8.13994E-6" "03565" "ITPA_000042" "g.3204042del" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "519delC" "" "Germline" "" "" "0" "" "" "g.3223396del" "" "pathogenic (recessive)" "" "0000831830" "3" "90" "20" "3204068" "3204068" "" "0" "03565" "ITPA_000043" "g.3204068T>C" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3223422T>C" "" "pathogenic (recessive)" "" "0000855797" "0" "50" "20" "3210266" "3210266" "subst" "1.63303E-5" "01943" "SLC4A11_000016" "g.3210266G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1775C>T (p.S592L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866420" "0" "90" "20" "3209536" "3209536" "subst" "4.06686E-6" "01943" "SLC4A11_000097" "g.3209536G>A" "" "" "" "SLC4A11(NM_001174090.1):c.2269C>T (p.R757*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866421" "0" "50" "20" "3212175" "3212175" "subst" "4.06266E-6" "01943" "SLC4A11_000098" "g.3212175A>G" "" "" "" "SLC4A11(NM_001174090.1):c.878T>C (p.M293T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918627" "0" "70" "20" "3194631" "3194631" "subst" "4.46682E-5" "01602" "ITPA_000046" "g.3194631G>T" "" "" "" "" "" "Unknown" "" "rs760868571" "" "" "" "" "" "likely pathogenic" "ACMG" "0000931513" "2" "90" "20" "3199226" "3199233" "dup" "0" "00006" "ITPA_000047" "g.3199226_3199233dup" "" "{PMID:cala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3218580_3218587dup" "" "pathogenic (recessive)" "" "0000931514" "2" "90" "20" "2816108" "3955033" "del" "0" "00006" "ITPA_000048" "g.(?_2816108)_(3955033_?)del" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "2,816,108–3,955,033del" "" "Germline" "" "" "0" "" "" "g.(?_2835462)_(3974387_?)del" "" "pathogenic (recessive)" "" "0000931515" "3" "90" "20" "3199226" "3199233" "dup" "0" "00006" "ITPA_000047" "g.3199226_3199233dup" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3218580_3218587dup" "" "pathogenic (recessive)" "" "0000931516" "3" "90" "20" "3202563" "3202563" "subst" "8.13776E-6" "00006" "ITPA_000038" "g.3202563C>T" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3221917C>T" "" "pathogenic (recessive)" "" "0000931517" "3" "90" "20" "3195926" "3195926" "subst" "8.12209E-6" "00006" "ITPA_000049" "g.3195926G>A" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3215280G>A" "" "pathogenic (recessive)" "" "0000931518" "3" "90" "20" "3202527" "3202527" "subst" "6.09736E-5" "00006" "ITPA_000050" "g.3202527G>A" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3221881G>A" "" "pathogenic (recessive)" "" "0000931519" "3" "90" "20" "3193873" "3193873" "subst" "1.21818E-5" "00006" "ITPA_000044" "g.3193873G>A" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3213227G>A" "" "pathogenic (recessive)" "" "0000931520" "3" "90" "20" "3202563" "3202563" "subst" "8.13776E-6" "00006" "ITPA_000038" "g.3202563C>T" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3221917C>T" "" "pathogenic (recessive)" "" "0000931521" "2" "90" "20" "3199226" "3199233" "dup" "0" "00006" "ITPA_000047" "g.3199226_3199233dup" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3218580_3218587dup" "" "pathogenic (recessive)" "" "0000931522" "2" "70" "20" "3189364" "3196608" "del" "0" "00006" "ITPA_000051" "g.(?_3189364)_(3196608_?)del" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "del ex1-5, 3,189,364–3,196,608" "" "Germline" "" "" "0" "" "" "g.(?_3208718)_(3215962_?)del" "" "pathogenic (recessive)" "" "0000931523" "3" "90" "20" "3202527" "3202527" "subst" "6.09736E-5" "00006" "ITPA_000050" "g.3202527G>A" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3221881G>A" "" "pathogenic (recessive)" "" "0000931524" "3" "90" "20" "3204055" "3204055" "subst" "0" "00006" "ITPA_000052" "g.3204055C>T" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3223409C>T" "" "pathogenic (recessive)" "" "0000931525" "3" "90" "20" "3204055" "3204055" "subst" "0" "00006" "ITPA_000052" "g.3204055C>T" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3223409C>T" "" "pathogenic (recessive)" "" "0000931526" "3" "90" "20" "3202527" "3202527" "subst" "6.09736E-5" "00006" "ITPA_000050" "g.3202527G>A" "" "{PMID:Scala 2022:34989426}, {DOI:Scala 2022:10.1002/humu.24326}" "" "" "" "Germline" "" "" "0" "" "" "g.3221881G>A" "" "pathogenic (recessive)" "" "0000983771" "0" "50" "20" "3208479" "3208479" "subst" "0" "01804" "SLC4A11_000102" "g.3208479A>G" "" "" "" "SLC4A11(NM_001174089.2):c.2582T>C (p.(Ile861Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983772" "0" "50" "20" "3209500" "3209500" "subst" "0.000317298" "01804" "SLC4A11_000025" "g.3209500C>T" "" "" "" "SLC4A11(NM_001174089.2):c.2176G>A (p.(Gly726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005337" "0" "50" "20" "3209184" "3209184" "subst" "0" "01804" "SLC4A11_000105" "g.3209184G>T" "" "" "" "SLC4A11(NM_001174089.1):c.2362C>A (p.(Arg788Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005338" "0" "50" "20" "3211203" "3211203" "subst" "0" "01804" "SLC4A11_000106" "g.3211203T>A" "" "" "" "SLC4A11(NM_001174089.1):c.1373A>T (p.(Tyr458Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043313" "0" "50" "20" "3208474" "3208474" "subst" "8.17528E-6" "01804" "SLC4A11_000112" "g.3208474C>G" "" "" "" "SLC4A11(NM_001174089.2):c.2587G>C (p.(Ala863Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043314" "0" "50" "20" "3211262" "3211262" "subst" "1.21898E-5" "01804" "SLC4A11_000113" "g.3211262C>T" "" "" "" "SLC4A11(NM_001174089.2):c.1314G>A (p.(Leu438=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056834" "0" "50" "20" "3211171" "3211171" "subst" "0" "01804" "SLC4A11_000114" "g.3211171G>A" "" "" "" "SLC4A11(NM_001174089.2):c.1405C>T (p.(Leu469Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ITPA ## Count = 79 "{{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}}" "0000298314" "00025675" "10" "8196" "0" "8196" "0" "c.*7611T>G" "r.(=)" "p.(=)" "" "0000298315" "00025675" "10" "5848" "0" "5848" "0" "c.*5263G>A" "r.(=)" "p.(=)" "" "0000308464" "00025675" "30" "6667" "0" "6667" "0" "c.*6082G>C" "r.(=)" "p.(=)" "" "0000308466" "00025675" "30" "6226" "0" "6226" "0" "c.*5641C>T" "r.(=)" "p.(=)" "" "0000308467" "00025675" "30" "5731" "0" "5731" "0" "c.*5146G>A" "r.(=)" "p.(=)" "" "0000346250" "00025675" "50" "5977" "0" "5977" "0" "c.*5392C>T" "r.(=)" "p.(=)" "" "0000569413" "00025675" "30" "5444" "0" "5444" "0" "c.*4859C>T" "r.(=)" "p.(=)" "" "0000569414" "00025675" "30" "5549" "0" "5549" "0" "c.*4964A>C" "r.(=)" "p.(=)" "" "0000569415" "00025675" "90" "5552" "0" "5552" "0" "c.*4967C>T" "r.(=)" "p.(=)" "" "0000569416" "00025675" "30" "5834" "0" "5834" "0" "c.*5249C>T" "r.(=)" "p.(=)" "" "0000569417" "00025675" "30" "6141" "0" "6141" "0" "c.*5556C>A" "r.(=)" "p.(=)" "" "0000569418" "00025675" "30" "6211" "0" "6211" "0" "c.*5626T>C" "r.(=)" "p.(=)" "" "0000569419" "00025675" "30" "6211" "0" "6211" "0" "c.*5626T>C" "r.(=)" "p.(=)" "" "0000569420" "00025675" "30" "6214" "0" "6214" "0" "c.*5629A>C" "r.(=)" "p.(=)" "" "0000569421" "00025675" "30" "6216" "0" "6216" "0" "c.*5631A>C" "r.(=)" "p.(=)" "" "0000569422" "00025675" "30" "6346" "0" "6346" "0" "c.*5761C>T" "r.(=)" "p.(=)" "" "0000569423" "00025675" "30" "6754" "0" "6754" "0" "c.*6169C>T" "r.(=)" "p.(=)" "" "0000569424" "00025675" "30" "6755" "0" "6755" "0" "c.*6170G>A" "r.(=)" "p.(=)" "" "0000569425" "00025675" "10" "6817" "0" "6817" "0" "c.*6232G>A" "r.(=)" "p.(=)" "" "0000569426" "00025675" "30" "6824" "0" "6824" "0" "c.*6239G>A" "r.(=)" "p.(=)" "" "0000569427" "00025675" "30" "8052" "0" "8052" "0" "c.*7467T>C" "r.(=)" "p.(=)" "" "0000569428" "00025675" "30" "8054" "0" "8054" "0" "c.*7469A>C" "r.(=)" "p.(=)" "" "0000569429" "00025675" "30" "8311" "0" "8311" "0" "c.*7726C>T" "r.(=)" "p.(=)" "" "0000618039" "00025675" "30" "70" "0" "70" "0" "c.70G>T" "r.(?)" "p.(Val24Phe)" "" "0000618040" "00025675" "30" "96" "0" "96" "0" "c.96A>G" "r.(?)" "p.(Pro32=)" "" "0000618041" "00025675" "30" "124" "7" "124" "7" "c.124+7C>T" "r.(=)" "p.(=)" "" "0000618042" "00025675" "70" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Trp90Ter)" "" "0000618052" "00025675" "30" "6539" "0" "6539" "0" "c.*5954G>A" "r.(=)" "p.(=)" "" "0000618053" "00025675" "30" "8323" "0" "8323" "0" "c.*7738G>A" "r.(=)" "p.(=)" "" "0000624143" "00025675" "30" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Leu42=)" "" "0000624146" "00025675" "30" "6292" "0" "6292" "0" "c.*5707G>A" "r.(=)" "p.(=)" "" "0000650767" "00025675" "50" "124" "21" "124" "21" "c.124+21A>C" "r.(=)" "p.(=)" "" "0000669667" "00025675" "50" "124" "21" "124" "21" "c.124+21A>C" "r.(=)" "p.(=)" "" "0000681590" "00025675" "50" "7784" "0" "7784" "0" "c.*7199del" "r.(?)" "p.(=)" "" "0000681591" "00025675" "30" "8191" "0" "8191" "0" "c.*7606G>A" "r.(=)" "p.(=)" "" "0000692961" "00025675" "50" "6696" "0" "6696" "0" "c.*6111T>C" "r.(=)" "p.(=)" "" "0000692962" "00025675" "50" "8499" "0" "8499" "0" "c.*7914G>A" "r.(=)" "p.(=)" "" "0000727648" "00025675" "50" "5830" "0" "5830" "0" "c.*5245C>G" "r.(=)" "p.(=)" "" "0000727649" "00025675" "30" "6244" "0" "6244" "0" "c.*5659G>A" "r.(=)" "p.(=)" "" "0000727650" "00025675" "30" "6533" "0" "6533" "0" "c.*5948G>A" "r.(=)" "p.(=)" "" "0000831814" "00025675" "90" "67" "-1" "67" "-1" "c.67-1G>A" "r.spl" "p.?" "" "0000831817" "00025675" "90" "124" "1" "124" "1" "c.124+1G>A" "r.spl" "p.?" "" "0000831819" "00025675" "90" "124" "1" "124" "1" "c.124+1G>C" "r.spl" "p.?" "" "0000831820" "00025675" "90" "142" "0" "142" "0" "c.142del" "r.(?)" "p.(Glu48Serfs*41)" "" "0000831821" "00025675" "90" "215" "0" "215" "0" "c.215A>G" "r.(?)" "p.(Asp72Gly)" "" "0000831822" "00025675" "90" "250" "0" "250" "0" "c.250C>A" "r.(?)" "p.(Pro84Thr)" "" "0000831823" "00025675" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Gly85Ser)" "" "0000831824" "00025675" "90" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Phe91Leu)" "" "0000831825" "00025675" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Thr163Met)" "" "0000831826" "00025675" "90" "488" "5" "488" "6" "c.488+5_488+6del" "r.spl?" "p.?" "" "0000831827" "00025675" "90" "489" "-1" "489" "-1" "c.489-1G>T" "r.spl" "p.?" "" "0000831828" "00025675" "90" "489" "-1" "489" "-1" "c.489-1G>T" "r.spl" "p.?" "" "0000831829" "00025675" "90" "519" "0" "519" "0" "c.519del" "r.(?)" "p.(Asn173Lysfs*51)" "" "0000831830" "00025675" "90" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Leu182Pro)" "" "0000855797" "00025675" "50" "6743" "0" "6743" "0" "c.*6158G>A" "r.(=)" "p.(=)" "" "0000866420" "00025675" "90" "6013" "0" "6013" "0" "c.*5428G>A" "r.(=)" "p.(=)" "" "0000866421" "00025675" "50" "8652" "0" "8652" "0" "c.*8067A>G" "r.(=)" "p.(=)" "" "0000918627" "00025675" "70" "190" "0" "190" "0" "c.190G>T" "r.(?)" "p.(Val64Leu)" "" "0000931513" "00025675" "90" "359" "0" "366" "0" "c.359_366dup" "r.(?)" "p.(Gly123Serfs*104)" "" "0000931514" "00025675" "90" "-192" "0" "993" "0" "c.-192_*408del" "r.0" "p.0" "_1_8_" "0000931515" "00025675" "90" "359" "0" "366" "0" "c.359_366dup" "r.(?)" "p.(Gly123Serfs*104)" "" "0000931516" "00025675" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Thr163Met)" "" "0000931517" "00025675" "90" "264" "-1" "264" "-1" "c.264-1G>A" "r.spl" "p.?" "" "0000931518" "00025675" "90" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Trp151*)" "" "0000931519" "00025675" "90" "124" "1" "124" "1" "c.124+1G>A" "r.spl" "p.?" "" "0000931520" "00025675" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Thr163Met)" "" "0000931521" "00025675" "90" "359" "0" "366" "0" "c.359_366dup" "r.(?)" "p.(Gly123Serfs*104)" "" "0000931522" "00025675" "70" "0" "0" "0" "0" "c.-192_(295+650del_296-1)del" "r.0?" "p.0?" "_1_5i" "0000931523" "00025675" "90" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Trp151*)" "" "0000931524" "00025675" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000931525" "00025675" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000931526" "00025675" "90" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Trp151*)" "" "0000983771" "00025675" "50" "4956" "0" "4956" "0" "c.*4371A>G" "r.(=)" "p.(=)" "" "0000983772" "00025675" "50" "5977" "0" "5977" "0" "c.*5392C>T" "r.(=)" "p.(=)" "" "0001005337" "00025675" "50" "5661" "0" "5661" "0" "c.*5076G>T" "r.(=)" "p.(=)" "" "0001005338" "00025675" "50" "7680" "0" "7680" "0" "c.*7095T>A" "r.(=)" "p.(=)" "" "0001043313" "00025675" "50" "4951" "0" "4951" "0" "c.*4366C>G" "r.(=)" "p.(=)" "" "0001043314" "00025675" "50" "7739" "0" "7739" "0" "c.*7154C>T" "r.(=)" "p.(=)" "" "0001056834" "00025675" "50" "7648" "0" "7648" "0" "c.*7063G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000294078" "0000650767" "0000305979" "0000669667" "0000399287" "0000831817" "0000399288" "0000831819" "0000399289" "0000831820" "0000399289" "0000931522" "0000399290" "0000831821" "0000399291" "0000831822" "0000399292" "0000831823" "0000399293" "0000831824" "0000399293" "0000931514" "0000399294" "0000831825" "0000399294" "0000931513" "0000399295" "0000831826" "0000399296" "0000831827" "0000399297" "0000831828" "0000399298" "0000831829" "0000399299" "0000831830" "0000399449" "0000831814" "0000399449" "0000931521" "0000433001" "0000918627" "0000436845" "0000931515" "0000436846" "0000931516" "0000436847" "0000931517" "0000436848" "0000931518" "0000436849" "0000931519" "0000436850" "0000931520" "0000436851" "0000931523" "0000436852" "0000931524" "0000436853" "0000931525" "0000436854" "0000931526"