### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC29A3) # 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}}" "SLC29A3" "solute carrier family 29 (nucleoside transporters), member 3" "10" "q22.2" "unknown" "NG_017066.1" "UD_132118745147" "" "https://www.LOVD.nl/SLC29A3" "" "1" "23096" "55315" "612373" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SLC29A3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-08-27 00:00:00" "00006" "2017-07-05 17:02:20" "00000" "2025-05-05 21:14:00" ## 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}}" "00019257" "SLC29A3" "transcript variant 1" "002" "NM_018344.5" "" "NP_060814.4" "" "" "" "-57" "2210" "1428" "73079010" "73123147" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "02441" "HLPS" "histiocytosis-lymphadenopathy plus syndrome" "AR" "602782" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC29A3" "02441" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00107776" "" "" "" "1" "" "00006" "{PMID:Morgan 2010:20140240}" "" "" "" "" "" "0" "" "" "" "" "00107777" "" "" "" "1" "" "00006" "{PMID:Morgan 2010:20140240}" "" "" "" "" "" "0" "" "" "" "" "00107778" "" "" "" "1" "" "00006" "{PMID:Cliffe 2009:19336477}" "" "" "" "" "" "0" "" "" "" "" "00107779" "" "" "" "1" "" "00006" "{PMID:Priya 2010:20199539}" "" "" "" "" "" "0" "" "" "" "" "00107780" "" "" "" "1" "" "00081" "{PMID:Campeau:22875837}" "" "F" "no" "" "" "0" "" "" "Greek/Turkish" "" "00107781" "" "" "" "1" "" "00006" "{PMID:Cliffe 2009:19336477}" "" "" "" "" "" "0" "" "" "" "" "00107782" "" "" "" "1" "" "00006" "{PMID:Molho-Pessach 2008:18940313}" "" "" "" "" "" "0" "" "" "" "" "00107783" "" "" "" "1" "" "00006" "{PMID:Molho-Pessach 2010:19889517}" "" "" "" "" "" "0" "" "" "" "" "00107784" "" "" "" "1" "" "00006" "{PMID:Molho-Pessach 2010:19889517}" "" "" "" "" "" "0" "" "" "" "" "00107785" "" "" "" "1" "" "00006" "{PMID:Molho-Pessach 2008:18940313}" "" "" "" "" "" "0" "" "" "" "" "00107786" "" "" "" "1" "" "00006" "{PMID:Molho-Pessach 2008:18940313}" "" "" "" "" "" "0" "" "" "" "" "00107787" "" "" "" "1" "" "00006" "{PMID:Cliffe 2009:19336477}" "" "" "" "" "" "0" "" "" "" "" "00107788" "" "" "" "1" "" "00006" "{PMID:Morgan 2010:20140240}" "" "" "" "" "" "0" "" "" "" "" "00107789" "" "" "" "1" "" "00006" "{PMID:Morgan 2010:20140240}" "" "" "" "" "" "0" "" "" "" "" "00107790" "" "" "" "1" "" "00006" "{PMID:Priya 2010:20199539}" "" "" "" "" "" "0" "" "" "" "" "00107791" "" "" "" "1" "" "00006" "{PMID:Cliffe 2009:19336477}" "" "" "" "" "" "0" "" "" "" "" "00107792" "" "" "" "1" "" "00006" "{PMID:Cliffe 2009:19336477}" "" "" "" "" "" "0" "" "" "" "" "00107793" "" "" "" "1" "" "00081" "{PMID:Campeau:22875837}" "" "F" "yes" "" "" "0" "" "" "" "" "00290100" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290101" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290102" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290103" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290104" "" "" "" "207" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304255" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00107776" "02441" "00107777" "02441" "00107778" "02441" "00107779" "02441" "00107780" "02441" "00107781" "02441" "00107782" "02441" "00107783" "02441" "00107784" "02441" "00107785" "02441" "00107786" "02441" "00107787" "02441" "00107788" "02441" "00107789" "02441" "00107790" "02441" "00107791" "02441" "00107792" "02441" "00107793" "02441" "00290100" "00198" "00290101" "00198" "00290102" "00198" "00290103" "00198" "00290104" "00198" "00304255" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02441 ## Count = 18 "{{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}}" "0000085539" "02441" "00107776" "00006" "Familial, autosomal recessive" "" "histiocytosis-lymphadenopathy plus syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085540" "02441" "00107777" "00006" "Familial, autosomal recessive" "" "Rosai-Dorfman Disease (RDD)/Sinus Histiocytosis with Massive Lymphadenop..." "" "" "" "" "" "" "" "" "" "" "" "0000085541" "02441" "00107778" "00006" "Familial, autosomal recessive" "" "PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit..." "" "" "" "" "" "" "" "" "" "" "" "0000085542" "02441" "00107779" "00006" "Familial, autosomal recessive" "" "H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085543" "02441" "00107780" "00081" "Familial, autosomal recessive" "03y" "recurrent transient \r\nerythematous papules on the lower abdomen, fractures, cortical thickening and widening of the diaphysis of the long bones, cranial base sclerosis, broad ribs with sclerosis, and platyspondyly; Dysosteosclerosis" "" "" "" "" "" "" "" "" "" "" "" "0000085544" "02441" "00107781" "00006" "Familial, autosomal recessive" "" "PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit..." "" "" "" "" "" "" "" "" "" "" "" "0000085545" "02441" "00107782" "00006" "Familial, autosomal recessive" "" "H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085546" "02441" "00107783" "00006" "Familial, autosomal recessive" "" "H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085547" "02441" "00107784" "00006" "Familial, autosomal recessive" "" "H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085548" "02441" "00107785" "00006" "Familial, autosomal recessive" "" "H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085549" "02441" "00107786" "00006" "Familial, autosomal recessive" "" "H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085550" "02441" "00107787" "00006" "Familial, autosomal recessive" "" "PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit..." "" "" "" "" "" "" "" "" "" "" "" "0000085551" "02441" "00107788" "00006" "Familial, autosomal recessive" "" "Rosai-Dorfman Disease (RDD)/Sinus Histiocytosis with Massive Lymphadenop..." "" "" "" "" "" "" "" "" "" "" "" "0000085552" "02441" "00107789" "00006" "Familial, autosomal recessive" "" "Rosai-Dorfman Disease (RDD)/Sinus Histiocytosis with Massive Lymphadenop..." "" "" "" "" "" "" "" "" "" "" "" "0000085553" "02441" "00107790" "00006" "Familial, autosomal recessive" "" "H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085554" "02441" "00107791" "00006" "Familial, autosomal recessive" "" "PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit..." "" "" "" "" "" "" "" "" "" "" "" "0000085555" "02441" "00107792" "00006" "Familial, autosomal recessive" "" "PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit..." "" "" "" "" "" "" "" "" "" "" "" "0000085556" "02441" "00107793" "00081" "Familial, autosomal recessive" "04y" "fractures, cortical thickening and widening of the diaphysis of the long bones, cranial base sclerosis, broad ribs with sclerosis, and platyspondyly;" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108247" "00107776" "0" "00006" "00006" "2011-01-24 16:57:08" "02132" "2011-01-24 16:58:26" "SEQ" "DNA" "" "" "0000108248" "00107777" "0" "00006" "02132" "2010-02-18 12:27:25" "02132" "2010-02-19 09:43:54" "SEQ" "DNA" "" "" "0000108249" "00107778" "0" "00006" "02132" "2010-01-28 12:26:56" "02132" "2010-01-29 13:11:31" "SEQ" "DNA" "" "" "0000108250" "00107779" "0" "00006" "02132" "2011-01-24 16:26:19" "02132" "2011-02-14 15:43:14" "SEQ" "DNA" "" "" "0000108251" "00107780" "0" "00081" "00081" "2012-08-15 18:22:07" "00081" "2012-08-15 18:25:54" "SEQ" "DNA" "" "" "0000108252" "00107781" "0" "00006" "02132" "2010-01-28 12:33:58" "02132" "2010-01-29 13:14:52" "SEQ" "DNA" "" "" "0000108253" "00107782" "0" "00006" "00006" "2009-08-28 12:32:51" "02132" "2010-01-29 13:16:23" "SEQ" "DNA" "" "" "0000108254" "00107783" "0" "00006" "02132" "2011-01-24 16:32:11" "" "" "SEQ" "DNA" "" "" "0000108255" "00107784" "0" "00006" "02132" "2011-01-24 16:34:09" "" "" "SEQ" "DNA" "" "" "0000108256" "00107785" "0" "00006" "00006" "2009-08-28 12:10:22" "" "" "SEQ" "DNA" "" "" "0000108257" "00107786" "0" "00006" "00006" "2009-08-28 11:14:06" "" "" "SEQ" "DNA" "" "" "0000108258" "00107787" "0" "00006" "02132" "2010-01-28 12:44:41" "02132" "2010-01-29 13:12:36" "SEQ" "DNA" "" "" "0000108259" "00107788" "0" "00006" "02132" "2010-02-18 12:46:13" "" "" "SEQ" "DNA" "" "" "0000108260" "00107789" "0" "00006" "02132" "2010-02-18 12:47:54" "02132" "2010-02-19 09:56:53" "SEQ" "DNA" "" "" "0000108261" "00107790" "0" "00006" "02132" "2011-01-24 16:28:31" "" "" "SEQ" "DNA" "" "" "0000108262" "00107791" "0" "00006" "02132" "2010-01-28 12:38:37" "02132" "2010-01-29 13:13:16" "SEQ" "DNA" "" "" "0000108263" "00107792" "0" "00006" "02132" "2010-01-28 12:41:48" "02132" "2010-01-29 13:14:18" "SEQ" "DNA" "" "" "0000108264" "00107793" "0" "00081" "00081" "2012-08-15 18:32:41" "" "" "SEQ" "DNA" "" "" "0000291268" "00290100" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291269" "00290101" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291270" "00290102" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291271" "00290103" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291272" "00290104" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305384" "00304255" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000108247" "SLC29A3" "0000108248" "SLC29A3" "0000108249" "SLC29A3" "0000108250" "SLC29A3" "0000108251" "SLC29A3" "0000108252" "SLC29A3" "0000108253" "SLC29A3" "0000108254" "SLC29A3" "0000108255" "SLC29A3" "0000108256" "SLC29A3" "0000108257" "SLC29A3" "0000108258" "SLC29A3" "0000108259" "SLC29A3" "0000108260" "SLC29A3" "0000108261" "SLC29A3" "0000108262" "SLC29A3" "0000108263" "SLC29A3" "0000108264" "SLC29A3" ## 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 = 84 "{{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}}" "0000174151" "3" "95" "10" "73082812" "73082812" "subst" "6.58339E-5" "00006" "SLC29A3_000010" "g.73082812G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71323055G>A" "" "pathogenic" "" "0000174152" "21" "99" "10" "73103972" "73103972" "del" "0" "00006" "SLC29A3_000009" "g.73103972delTT" "" "" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.71344215delTT" "" "pathogenic" "" "0000174153" "3" "97" "10" "73104012" "73104012" "subst" "2.43679E-5" "00006" "SLC29A3_000004" "g.73104012T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71344255T>G" "" "pathogenic" "" "0000174154" "3" "77" "10" "73111335" "73111335" "subst" "1.21845E-5" "00006" "SLC29A3_000011" "g.73111335C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71351578C>T" "" "likely pathogenic" "" "0000174155" "21" "95" "10" "73111542" "73111542" "subst" "1.24574E-5" "00081" "SLC29A3_000014" "g.73111542T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71351785T>C" "" "pathogenic" "" "0000174156" "3" "99" "10" "73121877" "73121877" "del" "0" "00006" "SLC29A3_000005" "g.73121877del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362120del" "" "pathogenic" "" "0000174157" "3" "95" "10" "73121982" "73121982" "del" "0" "00006" "SLC29A3_000003" "g.73121982del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362225del" "" "pathogenic" "" "0000174158" "3" "77" "10" "73122024" "73122024" "subst" "4.87409E-5" "00006" "SLC29A3_000012" "g.73122024C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362267C>T" "" "likely pathogenic" "" "0000174159" "3" "77" "10" "73122025" "73122025" "subst" "8.12315E-6" "00006" "SLC29A3_000013" "g.73122025G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362268G>A" "" "likely pathogenic" "" "0000174160" "11" "95" "10" "73122094" "73122094" "subst" "1.6245E-5" "00081" "SLC29A3_000015" "g.73122094G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362337G>A" "" "pathogenic" "" "0000174161" "3" "75" "10" "73122216" "73122216" "subst" "2.4377E-5" "00006" "SLC29A3_000002" "g.73122216G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362459G>A" "" "likely pathogenic" "" "0000174162" "3" "77" "10" "73122246" "73122246" "subst" "4.87531E-5" "00006" "SLC29A3_000001" "g.73122246G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362489G>A" "" "likely pathogenic" "" "0000174163" "3" "97" "10" "73122246" "73122246" "subst" "4.87531E-5" "00006" "SLC29A3_000001" "g.73122246G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362489G>A" "" "pathogenic" "" "0000174164" "3" "77" "10" "73122246" "73122246" "subst" "4.87531E-5" "00006" "SLC29A3_000001" "g.73122246G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362489G>A" "" "likely pathogenic" "" "0000174165" "11" "77" "10" "73122246" "73122246" "subst" "4.87531E-5" "00006" "SLC29A3_000001" "g.73122246G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362489G>A" "" "likely pathogenic" "" "0000174166" "3" "77" "10" "73122246" "73122246" "subst" "4.87531E-5" "00006" "SLC29A3_000001" "g.73122246G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362489G>A" "" "likely pathogenic" "" "0000174167" "3" "99" "10" "73122267" "73122267" "subst" "3.25024E-5" "00006" "SLC29A3_000006" "g.73122267G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362510G>T" "" "pathogenic" "" "0000174168" "3" "97" "10" "73122283" "73122283" "subst" "1.62536E-5" "00006" "SLC29A3_000007" "g.73122283C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362526C>G" "" "pathogenic" "" "0000174169" "3" "55" "10" "73122283" "73122283" "subst" "1.62536E-5" "00081" "SLC29A3_000007" "g.73122283C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71362526C>G" "" "VUS" "" "0000248791" "0" "10" "10" "73121913" "73121913" "subst" "0.818794" "02325" "SLC29A3_000028" "g.73121913A>G" "" "" "" "SLC29A3(NM_018344.6):c.976A>G (p.I326V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71362156A>G" "" "benign" "" "0000250806" "0" "30" "10" "73121938" "73121938" "subst" "0.000540505" "02326" "SLC29A3_000029" "g.73121938A>G" "" "" "" "SLC29A3(NM_001174098.1):c.*230A>G (p.(=)), SLC29A3(NM_001363518.1):c.767A>G (p.N256S), SLC29A3(NM_018344.6):c.1001A>G (p.N334S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71362181A>G" "" "likely benign" "" "0000254025" "0" "30" "10" "73121938" "73121938" "subst" "0.000540505" "01943" "SLC29A3_000029" "g.73121938A>G" "" "" "" "SLC29A3(NM_001174098.1):c.*230A>G (p.(=)), SLC29A3(NM_001363518.1):c.767A>G (p.N256S), SLC29A3(NM_018344.6):c.1001A>G (p.N334S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71362181A>G" "" "likely benign" "" "0000298276" "0" "10" "10" "73121945" "73121945" "subst" "0.825472" "02325" "SLC29A3_000030" "g.73121945T>C" "" "" "" "SLC29A3(NM_018344.6):c.1008T>C (p.G336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71362188T>C" "" "benign" "" "0000298277" "0" "10" "10" "73111408" "73111408" "subst" "0.63991" "02325" "SLC29A3_000021" "g.73111408C>T" "" "" "" "SLC29A3(NM_001174098.2):c.473C>T (p.S158F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71351651C>T" "" "benign" "" "0000298278" "0" "10" "10" "73115941" "73115941" "subst" "0.824788" "02325" "SLC29A3_000024" "g.73115941T>C" "" "" "" "SLC29A3(NM_001174098.2):c.714T>C (p.T238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71356184T>C" "" "benign" "" "0000298279" "0" "10" "10" "73115942" "73115942" "subst" "0.8186" "02325" "SLC29A3_000025" "g.73115942G>A" "" "" "" "SLC29A3(NM_001174098.2):c.715G>A (p.V239I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71356185G>A" "" "benign" "" "0000302189" "0" "30" "10" "73082639" "73082639" "subst" "0.000516403" "02326" "SLC29A3_000016" "g.73082639T>G" "" "" "" "SLC29A3(NM_001174098.1):c.128T>G (p.L43R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71322882T>G" "" "likely benign" "" "0000302190" "0" "10" "10" "73111532" "73111532" "subst" "0.00909031" "02326" "SLC29A3_000023" "g.73111532G>A" "" "" "" "SLC29A3(NM_018344.6):c.597G>A (p.Q199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71351775G>A" "" "benign" "" "0000302191" "0" "30" "10" "73121768" "73121768" "subst" "0.0104122" "02326" "SLC29A3_000026" "g.73121768C>T" "" "" "" "SLC29A3(NM_018344.6):c.831C>T (p.P277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71362011C>T" "" "likely benign" "" "0000302192" "0" "10" "10" "73121779" "73121779" "subst" "0.0104393" "02326" "SLC29A3_000027" "g.73121779T>C" "" "" "" "SLC29A3(NM_001174098.1):c.*71T>C (p.(=)), SLC29A3(NM_018344.6):c.842T>C (p.L281P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71362022T>C" "" "benign" "" "0000308367" "0" "30" "10" "73122083" "73122083" "subst" "0.000641661" "01943" "SLC29A3_000031" "g.73122083C>T" "" "" "" "SLC29A3(NM_018344.6):c.1146C>T (p.F382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71362326C>T" "" "likely benign" "" "0000308368" "0" "30" "10" "73082780" "73082780" "subst" "8.57381E-5" "01943" "SLC29A3_000017" "g.73082780C>T" "" "" "" "SLC29A3(NM_001174098.1):c.269C>T (p.T90I, p.(Thr90Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71323023C>T" "" "likely benign" "" "0000308369" "0" "30" "10" "73111310" "73111310" "subst" "0" "01943" "SLC29A3_000019" "g.73111310T>C" "" "" "" "SLC29A3(NM_001174098.1):c.384-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71351553T>C" "" "likely benign" "" "0000308370" "0" "30" "10" "73111397" "73111397" "subst" "0" "01943" "SLC29A3_000020" "g.73111397G>A" "" "" "" "SLC29A3(NM_001174098.1):c.462G>A (p.K154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71351640G>A" "" "likely benign" "" "0000308371" "0" "30" "10" "73111432" "73111432" "subst" "4.06072E-6" "01943" "SLC29A3_000022" "g.73111432C>T" "" "" "" "SLC29A3(NM_001174098.1):c.497C>T (p.A166V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71351675C>T" "" "likely benign" "" "0000540613" "0" "30" "10" "73082585" "73082585" "subst" "0.000342888" "01943" "SLC29A3_000032" "g.73082585G>A" "" "" "" "SLC29A3(NM_001174098.1):c.74G>A (p.R25Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71322828G>A" "" "likely benign" "" "0000540615" "0" "10" "10" "73082814" "73082814" "subst" "0.0025379" "01804" "SLC29A3_000033" "g.73082814A>G" "" "" "" "SLC29A3(NM_001174098.1):c.300+3A>G (p.?), SLC29A3(NM_018344.6):c.300+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71323057A>G" "" "benign" "" "0000540616" "0" "10" "10" "73104056" "73104056" "subst" "0.869937" "02325" "SLC29A3_000034" "g.73104056A>G" "" "" "" "SLC29A3(NM_001174098.2):c.383+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71344299A>G" "" "benign" "" "0000540618" "0" "10" "10" "73115845" "73115845" "subst" "0.00103205" "01943" "SLC29A3_000036" "g.73115845C>T" "" "" "" "SLC29A3(NM_001174098.1):c.618C>T (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71356088C>T" "" "benign" "" "0000540619" "0" "30" "10" "73121779" "73121779" "subst" "0.0104393" "01804" "SLC29A3_000027" "g.73121779T>C" "" "" "" "SLC29A3(NM_001174098.1):c.*71T>C (p.(=)), SLC29A3(NM_018344.6):c.842T>C (p.L281P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71362022T>C" "" "likely benign" "" "0000540620" "0" "30" "10" "73121883" "73121883" "subst" "0.000771712" "02326" "SLC29A3_000037" "g.73121883T>G" "" "" "" "SLC29A3(NM_001363518.1):c.712T>G (p.F238V), SLC29A3(NM_018344.6):c.946T>G (p.F316V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71362126T>G" "" "likely benign" "" "0000540621" "0" "10" "10" "73121913" "73121913" "subst" "0.818794" "02327" "SLC29A3_000028" "g.73121913A>G" "" "" "" "SLC29A3(NM_018344.6):c.976A>G (p.I326V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71362156A>G" "" "benign" "" "0000540622" "0" "30" "10" "73122083" "73122083" "subst" "0.000641661" "02326" "SLC29A3_000031" "g.73122083C>T" "" "" "" "SLC29A3(NM_018344.6):c.1146C>T (p.F382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71362326C>T" "" "likely benign" "" "0000540623" "0" "50" "10" "73122172" "73122172" "subst" "4.06147E-6" "01943" "SLC29A3_000038" "g.73122172A>G" "" "" "" "SLC29A3(NM_001174098.1):c.*464A>G (p.(=)), SLC29A3(NM_018344.6):c.1235A>G (p.D412G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71362415A>G" "" "VUS" "" "0000612604" "0" "50" "10" "73111518" "73111518" "subst" "1.62946E-5" "01943" "SLC29A3_000039" "g.73111518A>G" "" "" "" "SLC29A3(NM_001363518.1):c.349A>G (p.M117V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71351761A>G" "" "VUS" "" "0000622409" "0" "30" "10" "73115845" "73115845" "subst" "0.00103205" "02326" "SLC29A3_000036" "g.73115845C>T" "" "" "" "SLC29A3(NM_001174098.1):c.618C>T (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71356088C>T" "" "likely benign" "" "0000647957" "1" "50" "10" "73082584" "73082584" "subst" "8.16513E-6" "03575" "SLC29A3_000040" "g.73082584C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs746408350}" "Germline" "" "rs746408350" "0" "" "" "g.71322827C>T" "" "VUS" "" "0000647958" "1" "50" "10" "73082657" "73082657" "subst" "0.000203141" "03575" "SLC29A3_000041" "g.73082657G>C" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201610819}" "Germline" "" "rs201610819" "0" "" "" "g.71322900G>C" "" "VUS" "" "0000647959" "1" "90" "10" "73082812" "73082812" "subst" "6.58339E-5" "03575" "SLC29A3_000010" "g.73082812G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs587780463}" "Germline" "" "rs587780463" "0" "" "" "g.71323055G>A" "" "pathogenic" "" "0000647960" "1" "90" "10" "73122283" "73122283" "subst" "1.62536E-5" "03575" "SLC29A3_000007" "g.73122283C>G" "2/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs267607058}" "Germline" "" "rs267607058" "0" "" "" "g.71362526C>G" "" "pathogenic" "" "0000647961" "1" "30" "10" "73123076" "73123076" "subst" "0.0158596" "03575" "SLC29A3_000042" "g.73123076C>T" "207/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "207 heterozygous; {DB:CLININrs2275579}" "Germline" "" "rs2275579" "0" "" "" "g.71363319C>T" "" "likely benign" "" "0000669072" "3" "30" "10" "73123076" "73123076" "subst" "0.0158596" "03575" "SLC29A3_000042" "g.73123076C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs2275579}" "Germline" "" "rs2275579" "0" "" "" "g.71363319C>T" "" "likely benign" "" "0000678887" "0" "70" "10" "73104049" "73104049" "subst" "4.06448E-6" "01943" "SLC29A3_000043" "g.73104049G>A" "" "" "" "SLC29A3(NM_001363518.1):c.149+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678888" "0" "30" "10" "73121938" "73121938" "subst" "0.000540505" "01804" "SLC29A3_000029" "g.73121938A>G" "" "" "" "SLC29A3(NM_001174098.1):c.*230A>G (p.(=)), SLC29A3(NM_001363518.1):c.767A>G (p.N256S), SLC29A3(NM_018344.6):c.1001A>G (p.N334S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722901" "0" "30" "10" "73121735" "73121735" "subst" "2.45431E-5" "01943" "SLC29A3_000044" "g.73121735G>A" "" "" "" "SLC29A3(NM_001363518.1):c.564G>A (p.A188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722902" "0" "50" "10" "73121883" "73121883" "subst" "0.000771712" "01943" "SLC29A3_000037" "g.73121883T>G" "" "" "" "SLC29A3(NM_001363518.1):c.712T>G (p.F238V), SLC29A3(NM_018344.6):c.946T>G (p.F316V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722903" "0" "30" "10" "73121924" "73121924" "subst" "0.000219423" "01943" "SLC29A3_000045" "g.73121924C>T" "" "" "" "SLC29A3(NM_018344.6):c.987C>T (p.N329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722904" "0" "30" "10" "73122284" "73122284" "subst" "0.000142214" "01943" "SLC29A3_000046" "g.73122284G>A" "" "" "" "SLC29A3(NM_001363518.1):c.1113G>A (p.T371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804508" "0" "70" "10" "73079067" "73079067" "subst" "0" "02329" "SLC29A3_000047" "g.73079067A>G" "" "" "" "SLC29A3(NM_001174098.2):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804509" "0" "30" "10" "73082639" "73082639" "subst" "0.000516403" "01943" "SLC29A3_000016" "g.73082639T>G" "" "" "" "SLC29A3(NM_001174098.1):c.128T>G (p.L43R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804510" "0" "30" "10" "73103969" "73103969" "subst" "0.00399649" "01804" "SLC29A3_000048" "g.73103969T>C" "" "" "" "SLC29A3(NM_001174098.1):c.304T>C (p.(Tyr102His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804511" "0" "30" "10" "73122015" "73122015" "subst" "0" "01943" "SLC29A3_000049" "g.73122015C>T" "" "" "" "SLC29A3(NM_018344.6):c.1078C>T (p.L360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804512" "0" "30" "10" "73122350" "73122350" "subst" "8.12823E-6" "01943" "SLC29A3_000050" "g.73122350G>A" "" "" "" "SLC29A3(NM_018344.6):c.1413G>A (p.L471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852546" "0" "50" "10" "73122172" "73122172" "subst" "4.06147E-6" "01804" "SLC29A3_000038" "g.73122172A>G" "" "" "" "SLC29A3(NM_001174098.1):c.*464A>G (p.(=)), SLC29A3(NM_018344.6):c.1235A>G (p.D412G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861968" "0" "30" "10" "73122074" "73122074" "subst" "0.000641624" "01943" "SLC29A3_000051" "g.73122074C>T" "" "" "" "SLC29A3(NM_018344.6):c.1137C>T (p.L379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889211" "0" "30" "10" "73082780" "73082780" "subst" "8.57381E-5" "01804" "SLC29A3_000017" "g.73082780C>T" "" "" "" "SLC29A3(NM_001174098.1):c.269C>T (p.T90I, p.(Thr90Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889212" "0" "70" "10" "73082813" "73082813" "subst" "0" "02327" "SLC29A3_000052" "g.73082813T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889213" "0" "30" "10" "73103990" "73103990" "subst" "0.000255871" "01804" "SLC29A3_000053" "g.73103990G>A" "" "" "" "SLC29A3(NM_001174098.1):c.325G>A (p.(Val109Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889214" "0" "30" "10" "73103999" "73103999" "subst" "0.000613223" "01804" "SLC29A3_000054" "g.73103999A>G" "" "" "" "SLC29A3(NM_001174098.1):c.334A>G (p.(Thr112Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889215" "0" "30" "10" "73111423" "73111423" "subst" "0.00825537" "01804" "SLC29A3_000055" "g.73111423G>T" "" "" "" "SLC29A3(NM_001174098.1):c.488G>T (p.(Gly163Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889216" "0" "30" "10" "73111561" "73111561" "subst" "0.000211855" "02326" "SLC29A3_000056" "g.73111561C>T" "" "" "" "SLC29A3(NM_018344.6):c.610+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889217" "0" "30" "10" "73115934" "73115934" "subst" "0.000349233" "02326" "SLC29A3_000057" "g.73115934C>T" "" "" "" "SLC29A3(NM_018344.6):c.707C>T (p.T236M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913313" "0" "30" "10" "73082814" "73082814" "subst" "0.0025379" "02326" "SLC29A3_000033" "g.73082814A>G" "" "" "" "SLC29A3(NM_001174098.1):c.300+3A>G (p.?), SLC29A3(NM_018344.6):c.300+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913314" "0" "50" "10" "73115867" "73115867" "subst" "0.0006823" "01804" "SLC29A3_000058" "g.73115867G>A" "" "" "" "SLC29A3(NM_001174098.1):c.640G>A (p.(Val214Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913315" "0" "30" "10" "73115951" "73115951" "subst" "2.84294E-5" "01804" "SLC29A3_000059" "g.73115951G>A" "" "" "" "SLC29A3(NM_001174098.1):c.724G>A (p.(Val242Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925183" "0" "30" "10" "73103960" "73103960" "subst" "0.00019497" "01804" "SLC29A3_000060" "g.73103960T>C" "" "" "" "SLC29A3(NM_001174098.1):c.301-6T>C (p.(=)), SLC29A3(NM_018344.6):c.301-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929694" "0" "30" "10" "73079060" "73079060" "subst" "0.001819" "01804" "SLC29A3_000061" "g.73079060C>T" "" "" "" "SLC29A3(NM_001174098.1):c.-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929695" "0" "30" "10" "73082533" "73082533" "subst" "6.15349E-5" "02326" "SLC29A3_000062" "g.73082533G>A" "" "" "" "SLC29A3(NM_018344.6):c.22G>A (p.D8N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929696" "0" "30" "10" "73082579" "73082579" "subst" "0.000130693" "01804" "SLC29A3_000063" "g.73082579G>A" "" "" "" "SLC29A3(NM_001174098.1):c.68G>A (p.(Ser23Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929697" "0" "30" "10" "73103960" "73103960" "subst" "0.00019497" "02326" "SLC29A3_000060" "g.73103960T>C" "" "" "" "SLC29A3(NM_001174098.1):c.301-6T>C (p.(=)), SLC29A3(NM_018344.6):c.301-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949426" "0" "30" "10" "73115914" "73115914" "subst" "0.000316749" "02326" "SLC29A3_000064" "g.73115914C>T" "" "" "" "SLC29A3(NM_018344.6):c.687C>T (p.S229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949427" "0" "30" "10" "73116013" "73116013" "subst" "0" "02326" "SLC29A3_000065" "g.73116013C>T" "" "" "" "SLC29A3(NM_018344.6):c.773+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037972" "0" "50" "10" "73115841" "73115841" "subst" "4.06359E-6" "01804" "SLC29A3_000066" "g.73115841G>A" "" "" "" "SLC29A3(NM_018344.6):c.614G>A (p.(Gly205Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037973" "0" "50" "10" "73122139" "73122139" "subst" "0.000121855" "01804" "SLC29A3_000067" "g.73122139G>A" "" "" "" "SLC29A3(NM_018344.6):c.1202G>A (p.(Arg401His))" "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 SLC29A3 ## Count = 84 "{{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}}" "0000174151" "00019257" "95" "300" "1" "300" "1" "c.300+1G>A" "r.spl" "p.?" "2i" "0000174152" "00019257" "99" "307" "0" "307" "0" "c.307delTT" "r.(?)" "p.Phe103X" "3" "0000174153" "00019257" "97" "347" "0" "347" "0" "c.347T>G" "r.(?)" "p.Met116Arg" "3" "0000174154" "00019257" "77" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.Arg134Cys" "4" "0000174155" "00019257" "95" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.Ser203Pro" "4" "0000174156" "00019257" "99" "940" "0" "940" "0" "c.940del" "r.(?)" "p.(Tyr314ThrfsTer91)" "6" "0000174157" "00019257" "95" "1045" "0" "1045" "0" "c.1045del" "r.(?)" "p.(Leu349SerfsTer56)" "6" "0000174158" "00019257" "77" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.Arg363Trp" "6" "0000174159" "00019257" "77" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.Arg363Gln" "6" "0000174160" "00019257" "95" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.Arg386Gln" "6" "0000174161" "00019257" "75" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.Gly427Ser" "6" "0000174162" "00019257" "77" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.Gly437Arg" "6" "0000174163" "00019257" "97" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.Gly437Arg" "6" "0000174164" "00019257" "77" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.Gly437Arg" "6" "0000174165" "00019257" "77" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.Gly437Arg" "6" "0000174166" "00019257" "77" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.Gly437Arg" "6" "0000174167" "00019257" "99" "1330" "0" "1330" "0" "c.1330G>T" "r.(?)" "p.Glu444X" "6" "0000174168" "00019257" "97" "1346" "0" "1346" "0" "c.1346C>G" "r.(?)" "p.Thr449Arg" "6" "0000174169" "00019257" "55" "1346" "0" "1346" "0" "c.1346C>G" "r.(?)" "p.Thr449Arg" "6" "0000248791" "00019257" "10" "976" "0" "976" "0" "c.976A>G" "r.(?)" "p.(Ile326Val)" "" "0000250806" "00019257" "30" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asn334Ser)" "" "0000254025" "00019257" "30" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asn334Ser)" "" "0000298276" "00019257" "10" "1008" "0" "1008" "0" "c.1008T>C" "r.(?)" "p.(Gly336=)" "" "0000298277" "00019257" "10" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ser158Phe)" "" "0000298278" "00019257" "10" "714" "0" "714" "0" "c.714T>C" "r.(?)" "p.(Thr238=)" "" "0000298279" "00019257" "10" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Val239Ile)" "" "0000302189" "00019257" "30" "128" "0" "128" "0" "c.128T>G" "r.(?)" "p.(Leu43Arg)" "" "0000302190" "00019257" "10" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Gln199=)" "" "0000302191" "00019257" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Pro277=)" "" "0000302192" "00019257" "10" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Leu281Pro)" "" "0000308367" "00019257" "30" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(Phe382=)" "" "0000308368" "00019257" "30" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Thr90Ile)" "" "0000308369" "00019257" "30" "384" "-9" "384" "-9" "c.384-9T>C" "r.(=)" "p.(=)" "" "0000308370" "00019257" "30" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Lys154=)" "" "0000308371" "00019257" "30" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ala166Val)" "" "0000540613" "00019257" "30" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Arg25Gln)" "" "0000540615" "00019257" "10" "300" "3" "300" "3" "c.300+3A>G" "r.spl?" "p.?" "" "0000540616" "00019257" "10" "383" "8" "383" "8" "c.383+8A>G" "r.(=)" "p.(=)" "" "0000540618" "00019257" "10" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ala206=)" "" "0000540619" "00019257" "30" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Leu281Pro)" "" "0000540620" "00019257" "30" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Phe316Val)" "" "0000540621" "00019257" "10" "976" "0" "976" "0" "c.976A>G" "r.(?)" "p.(Ile326Val)" "" "0000540622" "00019257" "30" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(Phe382=)" "" "0000540623" "00019257" "50" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Asp412Gly)" "" "0000612604" "00019257" "50" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Met195Val)" "" "0000622409" "00019257" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ala206=)" "" "0000647957" "00019257" "50" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Arg25*)" "" "0000647958" "00019257" "50" "146" "0" "146" "0" "c.146G>C" "r.(?)" "p.(Arg49Pro)" "" "0000647959" "00019257" "90" "300" "1" "300" "1" "c.300+1G>A" "r.spl?" "p.?" "" "0000647960" "00019257" "90" "1346" "0" "1346" "0" "c.1346C>G" "r.(?)" "p.(Thr449Arg)" "" "0000647961" "00019257" "30" "2139" "0" "2139" "0" "c.*711C>T" "r.(=)" "p.(=)" "" "0000669072" "00019257" "30" "2139" "0" "2139" "0" "c.*711C>T" "r.(=)" "p.(=)" "" "0000678887" "00019257" "70" "383" "1" "383" "1" "c.383+1G>A" "r.spl?" "p.?" "" "0000678888" "00019257" "30" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asn334Ser)" "" "0000722901" "00019257" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Ala266=)" "" "0000722902" "00019257" "50" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Phe316Val)" "" "0000722903" "00019257" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Asn329=)" "" "0000722904" "00019257" "30" "1347" "0" "1347" "0" "c.1347G>A" "r.(?)" "p.(Thr449=)" "" "0000804508" "00019257" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000804509" "00019257" "30" "128" "0" "128" "0" "c.128T>G" "r.(?)" "p.(Leu43Arg)" "" "0000804510" "00019257" "30" "304" "0" "304" "0" "c.304T>C" "r.(?)" "p.(Tyr102His)" "" "0000804511" "00019257" "30" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Leu360=)" "" "0000804512" "00019257" "30" "1413" "0" "1413" "0" "c.1413G>A" "r.(?)" "p.(Leu471=)" "" "0000852546" "00019257" "50" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Asp412Gly)" "" "0000861968" "00019257" "30" "1137" "0" "1137" "0" "c.1137C>T" "r.(?)" "p.(Leu379=)" "" "0000889211" "00019257" "30" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Thr90Ile)" "" "0000889212" "00019257" "70" "300" "2" "300" "2" "c.300+2T>C" "r.spl?" "p.?" "" "0000889213" "00019257" "30" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Val109Ile)" "" "0000889214" "00019257" "30" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "" "0000889215" "00019257" "30" "488" "0" "488" "0" "c.488G>T" "r.(?)" "p.(Gly163Val)" "" "0000889216" "00019257" "30" "610" "16" "610" "16" "c.610+16C>T" "r.(=)" "p.(=)" "" "0000889217" "00019257" "30" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Thr236Met)" "" "0000913313" "00019257" "30" "300" "3" "300" "3" "c.300+3A>G" "r.spl?" "p.?" "" "0000913314" "00019257" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Val214Met)" "" "0000913315" "00019257" "30" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Met)" "" "0000925183" "00019257" "30" "301" "-6" "301" "-6" "c.301-6T>C" "r.(=)" "p.(=)" "" "0000929694" "00019257" "30" "-7" "0" "-7" "0" "c.-7C>T" "r.(?)" "p.(=)" "" "0000929695" "00019257" "30" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Asp8Asn)" "" "0000929696" "00019257" "30" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Ser23Asn)" "" "0000929697" "00019257" "30" "301" "-6" "301" "-6" "c.301-6T>C" "r.(=)" "p.(=)" "" "0000949426" "00019257" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(=)" "" "0000949427" "00019257" "30" "773" "13" "773" "13" "c.773+13C>T" "r.(=)" "p.(=)" "" "0001037972" "00019257" "50" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Gly205Glu)" "" "0001037973" "00019257" "50" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Arg401His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000108247" "0000174151" "0000108248" "0000174152" "0000108249" "0000174153" "0000108250" "0000174154" "0000108251" "0000174155" "0000108251" "0000174160" "0000108252" "0000174156" "0000108253" "0000174157" "0000108254" "0000174158" "0000108255" "0000174159" "0000108256" "0000174161" "0000108257" "0000174162" "0000108258" "0000174163" "0000108259" "0000174164" "0000108260" "0000174165" "0000108261" "0000174166" "0000108262" "0000174167" "0000108263" "0000174168" "0000108264" "0000174169" "0000291268" "0000647957" "0000291269" "0000647958" "0000291270" "0000647959" "0000291271" "0000647960" "0000291272" "0000647961" "0000305384" "0000669072"