### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNASEH2B) # 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}}" "RNASEH2B" "ribonuclease H2, subunit B" "13" "q14.3" "unknown" "NG_009055.1" "UD_132118462862" "" "http://www.LOVD.nl/RNASEH2B" "" "1" "25671" "79621" "610326" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RNASEH2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-02-18 00:00:00" "00006" "2016-01-22 05:35:19" "00006" "2025-11-13 13:04:16" ## 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}}" "00017849" "RNASEH2B" "transcript variant 1" "002" "NM_024570.3" "" "NP_078846.2" "" "" "" "-399" "1230" "939" "51483814" "51530901" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00710" "AGS2" "Aicardi-Goutieres syndrome, type 2 (AGS2)" "AR" "610181" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05129" "AGS" "Aicardi-Goutieres syndrome (AGS)" "" "" "" "" "" "00006" "2016-02-03 07:50:41" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RNASEH2B" "00139" "RNASEH2B" "00710" ## Individuals ## Do not remove or alter this header ## ## Count = 81 "{{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}}" "00057265" "" "" "" "1" "" "01494" "{PMID:Rump 2016:26846091}" "" "F" "yes" "" "" "0" "" "" "" "" "00058705" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "yes" "Morocco" "" "0" "" "" "" "16845400-F1" "00058706" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "yes" "Italy" "" "0" "" "" "" "16845400-F3" "00058707" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "yes" "Algeria" "" "0" "" "" "" "16845400-F4" "00058708" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Algeria;Tunisia" "" "0" "" "" "" "16845400-F11" "00058709" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Italy" "" "0" "" "" "" "16845400-F19" "00058710" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "United States" "" "0" "" "" "European" "16845400-F17" "00058711" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "United States" "" "0" "" "" "European" "16845400-F18" "00058712" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Canada;Hungary" "" "0" "" "" "" "16845400-F21" "00058713" "" "" "" "1" "" "00006" "{PMID20131292:Ramantani 2010}" "" "" "" "" "" "0" "" "" "" "" "00058714" "" "" "" "1" "" "00006" "{PMID20131292:Ramantani 2010}" "" "" "" "" "" "0" "" "" "" "" "00058715" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058716" "" "" "" "1" "" "00006" "{PMID17846997:Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058717" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058718" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058719" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058720" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058721" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058722" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058723" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058724" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058725" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058726" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058727" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058728" "" "" "" "1" "" "00006" "{PMID17846997: Rice2007}" "" "" "" "" "" "0" "" "" "" "" "00058729" "" "" "" "1" "" "00006" "{PMID:Rice 2007:17846997}" "" "" "" "" "" "0" "" "" "" "" "00058768" "" "" "" "10" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058769" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058770" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058771" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058772" "" "" "" "2" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058773" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058774" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058775" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058776" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058777" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058778" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058779" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058780" "" "" "" "3" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058781" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058782" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058783" "" "" "" "4" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058784" "" "" "" "3" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058802" "" "" "" "1" "" "00006" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "Argentina" "" "00058803" "" "" "" "1" "" "00006" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "Spanish" "" "00058806" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Hungarian" "" "00058807" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "French" "" "00058808" "" "" "" "1" "" "00006" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "German" "" "00058809" "" "" "" "1" "" "00006" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "German" "" "00058810" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "German" "" "00058811" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Unknown" "" "00058812" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Unknown" "" "00058813" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Italian" "" "00058814" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Spanish" "" "00058815" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Spanish" "" "00058816" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Spanish" "" "00058817" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Unknown" "" "00058818" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "English" "" "00058819" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Unknown" "" "00058820" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "Egyptian" "" "00104041" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-780A" "00208212" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "yes" "Morocco" "" "0" "" "" "" "16845400-F5" "00208213" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Italy" "" "0" "" "" "" "16845400-F8" "00208214" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "yes" "Ireland" "" "0" "" "" "" "16845400-F9" "00208215" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Morocco" "" "0" "" "" "" "16845400-F10" "00208216" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Italy" "" "0" "" "" "" "16845400-F12" "00208217" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Italy" "" "0" "" "" "" "16845400-F13" "00208218" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Canada" "" "0" "" "" "French Canadian" "16845400-F14" "00208219" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "16845400-F15" "00208220" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Germany" "" "0" "" "" "" "16845400-F16" "00208221" "" "" "" "1" "" "00006" "{PMID:Crow 2006:16845400}" "" "" "no" "Italy" "" "0" "" "" "" "16845400-F20" "00308027" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat6" "00372066" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "Spanish-Russian" "178532" "00380767" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00415272" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "27" "00416853" "" "" "" "1" "" "00000" "{PMID:Rump 2016:26846091}" "" "F" "" "" "" "0" "" "" "" "26" "00440436" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2336.4" "00455782" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat22" "00467779" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam060PatBAB6954" "00469291" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469292" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 81 "{{individualid}}" "{{diseaseid}}" "00057265" "00710" "00058705" "05129" "00058706" "05129" "00058707" "05129" "00058708" "05129" "00058709" "05129" "00058710" "05129" "00058711" "05129" "00058712" "05129" "00058713" "05129" "00058714" "05129" "00058715" "05129" "00058716" "05129" "00058717" "05129" "00058718" "05129" "00058719" "05129" "00058720" "05129" "00058721" "05129" "00058722" "05129" "00058723" "05129" "00058724" "05129" "00058725" "05129" "00058726" "05129" "00058727" "05129" "00058728" "05129" "00058729" "05129" "00058768" "05129" "00058769" "05129" "00058770" "05129" "00058771" "05129" "00058772" "05129" "00058773" "05129" "00058774" "05129" "00058775" "05129" "00058776" "05129" "00058777" "05129" "00058778" "05129" "00058779" "05129" "00058780" "05129" "00058781" "05129" "00058782" "05129" "00058783" "05129" "00058784" "05129" "00058802" "05129" "00058803" "05129" "00058806" "05129" "00058807" "05129" "00058808" "05129" "00058809" "05129" "00058810" "05129" "00058811" "05129" "00058812" "05129" "00058813" "05129" "00058814" "05129" "00058815" "05129" "00058816" "05129" "00058817" "05129" "00058818" "05129" "00058819" "05129" "00058820" "05129" "00104041" "03381" "00208212" "05129" "00208213" "05129" "00208214" "05129" "00208215" "05129" "00208216" "05129" "00208217" "05129" "00208218" "05129" "00208219" "05129" "00208220" "05129" "00208221" "05129" "00308027" "00198" "00372066" "00710" "00380767" "00710" "00415272" "04214" "00416853" "00710" "00440436" "00198" "00455782" "00198" "00467779" "05611" "00469291" "00198" "00469292" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00710, 03381, 04214, 05129, 05611 ## Count = 81 "{{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}}" "0000044553" "00710" "00057265" "01494" "Familial, autosomal recessive" "" "Microcephaly HP:0000252" "" "" "" "" "" "" "" "" "" "" "" "0000045296" "05129" "00058705" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045297" "05129" "00058706" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045298" "05129" "00058707" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045299" "05129" "00058708" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045300" "05129" "00058709" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045301" "05129" "00058710" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045302" "05129" "00058711" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045303" "05129" "00058712" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045304" "05129" "00058713" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045305" "05129" "00058714" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045306" "05129" "00058715" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045307" "05129" "00058716" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045308" "05129" "00058717" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045309" "05129" "00058718" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045310" "05129" "00058719" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045311" "05129" "00058720" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045312" "05129" "00058721" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045313" "05129" "00058722" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045314" "05129" "00058723" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045315" "05129" "00058724" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045316" "05129" "00058725" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045317" "05129" "00058726" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045318" "05129" "00058727" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045319" "05129" "00058728" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045320" "05129" "00058729" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045359" "05129" "00058768" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045360" "05129" "00058769" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045361" "05129" "00058770" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045362" "05129" "00058771" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045363" "05129" "00058772" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045364" "05129" "00058773" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045365" "05129" "00058774" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045366" "05129" "00058775" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045367" "05129" "00058776" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045368" "05129" "00058777" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045369" "05129" "00058778" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045370" "05129" "00058779" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045371" "05129" "00058780" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045372" "05129" "00058781" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045373" "05129" "00058782" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045374" "05129" "00058783" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045375" "05129" "00058784" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045393" "05129" "00058802" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045394" "05129" "00058803" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045397" "05129" "00058806" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045398" "05129" "00058807" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045399" "05129" "00058808" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045400" "05129" "00058809" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045401" "05129" "00058810" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045402" "05129" "00058811" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045403" "05129" "00058812" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045404" "05129" "00058813" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045405" "05129" "00058814" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045406" "05129" "00058815" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045407" "05129" "00058816" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045408" "05129" "00058817" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045409" "05129" "00058818" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045410" "05129" "00058819" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045411" "05129" "00058820" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081975" "03381" "00104041" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000156906" "05129" "00208212" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156907" "05129" "00208213" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156908" "05129" "00208214" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156909" "05129" "00208215" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156910" "05129" "00208216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156911" "05129" "00208217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156912" "05129" "00208218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156913" "05129" "00208219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156914" "05129" "00208220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156915" "05129" "00208221" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233453" "00198" "00308027" "00006" "Familial, autosomal recessive" "" "severe global developmental delay, spastic tetraplegic cerebral palsy, microcephaly" "" "" "" "" "" "" "" "" "AGS2" "developmental delay" "" "0000267395" "00710" "00372066" "01164" "Unknown" "" "HPOTerms: (+) Motor delay,(+) Limb hypertonia,(+) Muscular hypotonia of the trunk,(+) Abnormal CNS myelination,(+) Abnormal myelination // 18 months old, motor developmental delay, unable to sit freely, muscular trunk hypotonia, increased muscle tone of the extremities, increased muscular reflexes, cMRI: myelinisation disorder in the region of the medullary canal, in the internal capsule and in the U-fibres on both sides, temporopolar, social development so far unremarkable" "" "" "" "" "" "" "" "" "18mo" "" "" "0000274620" "00710" "00380767" "00000" "Familial" "" "Neurological regression (Neurological)" "" "" "" "" "" "" "" "" "Aicardi-Goutieres syndrome 2" "" "" "0000307070" "04214" "00415272" "00000" "Familial, autosomal recessive" "" "OMIM: 610181; developmental regression, myoclonic epilepsy, and basal ganglia calcification in ct scan of the brain" "" "" "" "" "" "" "" "" "Aicardi-Goutieres Syndrome typ" "" "" "0000308363" "00710" "00416853" "00000" "Familial, autosomal recessive" "5y" "brain magnetic resonance imaging: multiple intra cerebral calcifications on ct-scan; additional clinical featuresfeeding problems, short stature, seizures, spasticity, severe developmental delay" "" "" "" "" "" "" "" "" "Aicardi-Goutieres syndrome 2 [MIM 610181]" "" "" "0000330346" "00198" "00440436" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Aicardi-Goutieres syndrome-2 (MIM #610181)" "" "" "0000344315" "00198" "00455782" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "AGS2" "neurogenetic diseases" "" "0000352932" "05611" "00467779" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "AGS2" "neurodevelopmental disorder" "" "0000354444" "00198" "00469291" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354445" "00198" "00469292" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 81 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000057226" "00057265" "1" "01494" "01494" "2016-01-21 16:08:44" "01494" "2016-01-25 10:02:51" "SEQ-NG-I" "DNA" "DNA isolated from Blood" "" "0000058667" "00058705" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:02:20" "SEQ" "DNA" "" "" "0000058668" "00058706" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:10:18" "SEQ" "DNA" "" "" "0000058669" "00058707" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-10-01 17:40:22" "SEQ" "DNA" "" "" "0000058670" "00058708" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 13:58:35" "SEQ" "DNA" "" "" "0000058671" "00058709" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-07-31 12:35:16" "SEQ" "DNA" "" "" "0000058672" "00058710" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 13:34:58" "SEQ" "DNA" "" "" "0000058673" "00058711" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 13:55:37" "SEQ" "DNA" "" "" "0000058674" "00058712" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:06:45" "SEQ" "DNA" "" "" "0000058675" "00058713" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:12:04" "SEQ" "DNA" "" "" "0000058676" "00058714" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:07:35" "SEQ" "DNA" "" "" "0000058677" "00058715" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 13:31:08" "SEQ" "DNA" "" "" "0000058678" "00058716" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 13:40:51" "SEQ" "DNA" "" "" "0000058679" "00058717" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 13:54:56" "SEQ" "DNA" "" "" "0000058680" "00058718" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 13:56:38" "SEQ" "DNA" "" "" "0000058681" "00058719" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 13:57:19" "SEQ" "DNA" "" "" "0000058682" "00058720" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 13:58:03" "SEQ" "DNA" "" "" "0000058683" "00058721" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:00:00" "SEQ" "DNA" "" "" "0000058684" "00058722" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:00:49" "SEQ" "DNA" "" "" "0000058685" "00058723" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-07-31 12:38:41" "SEQ" "DNA" "" "" "0000058686" "00058724" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:03:00" "SEQ" "DNA" "" "" "0000058687" "00058725" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:06:04" "SEQ" "DNA" "" "" "0000058688" "00058726" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:08:25" "SEQ" "DNA" "" "" "0000058689" "00058727" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:09:34" "SEQ" "DNA" "" "" "0000058690" "00058728" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:10:51" "SEQ" "DNA" "" "" "0000058691" "00058729" "1" "00006" "00006" "2011-03-22 14:20:26" "01537" "2012-05-31 14:11:19" "SEQ" "DNA" "" "" "0000058730" "00058768" "1" "01536" "01536" "2012-06-23 18:19:22" "01537" "2012-06-26 10:12:31" "SEQ" "DNA" "" "" "0000058731" "00058769" "1" "01536" "01536" "2012-06-23 18:39:54" "01537" "2012-06-26 10:11:29" "SEQ" "DNA" "" "" "0000058732" "00058770" "1" "01536" "01536" "2012-06-30 18:20:30" "01537" "2012-10-01 17:40:22" "SEQ" "DNA" "" "" "0000058733" "00058771" "1" "01536" "01536" "2012-06-30 18:40:53" "01537" "2012-07-31 12:38:47" "SEQ" "DNA" "" "" "0000058734" "00058772" "1" "01536" "01536" "2012-06-30 19:08:15" "01537" "2012-07-31 12:35:16" "SEQ" "DNA" "" "" "0000058735" "00058773" "1" "01536" "01536" "2012-06-30 19:21:43" "01537" "2012-07-31 12:37:32" "SEQ" "DNA" "" "" "0000058736" "00058774" "1" "01536" "01536" "2012-07-21 16:29:44" "01537" "2012-07-31 12:38:41" "SEQ" "DNA" "" "" "0000058737" "00058775" "1" "01536" "01536" "2012-07-21 16:49:59" "01537" "2012-07-31 11:09:16" "SEQ" "DNA" "" "" "0000058738" "00058776" "1" "01536" "01536" "2012-07-21 17:13:40" "01537" "2012-07-31 12:36:13" "SEQ" "DNA" "" "" "0000058739" "00058777" "1" "01536" "01536" "2012-07-21 17:28:59" "01537" "2012-07-31 12:37:07" "SEQ" "DNA" "" "" "0000058740" "00058778" "1" "01536" "01536" "2012-07-21 17:47:01" "01537" "2012-07-31 11:06:39" "SEQ" "DNA" "" "" "0000058741" "00058779" "1" "01536" "01536" "2012-07-21 18:39:18" "01537" "2012-07-31 11:15:14" "SEQ" "DNA" "" "" "0000058742" "00058780" "1" "01536" "01536" "2012-09-29 16:45:28" "01537" "2012-10-01 17:39:56" "SEQ" "DNA" "" "" "0000058743" "00058781" "1" "01536" "01536" "2012-09-29 17:19:53" "01537" "2012-10-01 17:40:22" "SEQ" "DNA" "" "" "0000058744" "00058782" "1" "01536" "01536" "2012-09-29 17:35:32" "01537" "2012-10-01 17:42:41" "SEQ" "DNA" "" "" "0000058745" "00058783" "1" "01536" "01536" "2012-09-29 17:53:48" "01537" "2012-11-13 12:59:13" "SEQ" "DNA" "" "" "0000058746" "00058784" "1" "01536" "01536" "2012-09-29 18:02:15" "01537" "2012-10-01 17:41:25" "SEQ" "DNA" "" "" "0000058764" "00058802" "1" "00006" "00006" "2012-11-30 11:52:48" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058765" "00058803" "1" "00006" "00006" "2012-11-30 12:02:47" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058768" "00058806" "1" "00006" "00006" "2012-12-04 11:06:17" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058769" "00058807" "1" "00006" "00006" "2012-12-04 11:09:14" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058770" "00058808" "1" "00006" "00006" "2012-12-04 11:11:43" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058771" "00058809" "1" "00006" "00006" "2012-12-04 11:14:09" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058772" "00058810" "1" "00006" "00006" "2012-12-04 11:15:42" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058773" "00058811" "1" "00006" "00006" "2012-12-04 11:18:18" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058774" "00058812" "1" "00006" "00006" "2012-12-04 11:22:17" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058775" "00058813" "1" "00006" "00006" "2012-12-04 11:30:55" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058776" "00058814" "1" "00006" "00006" "2012-12-04 11:35:08" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058777" "00058815" "1" "00006" "00006" "2012-12-04 11:40:52" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058778" "00058816" "1" "00006" "00006" "2012-12-04 11:43:29" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058779" "00058817" "1" "00006" "00006" "2012-12-04 11:51:45" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058780" "00058818" "1" "00006" "00006" "2012-12-04 12:46:55" "01537" "2012-12-04 12:47:02" "SEQ" "DNA" "" "" "0000058781" "00058819" "1" "00006" "00006" "2012-12-04 12:49:15" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000058782" "00058820" "1" "00006" "00006" "2012-12-04 12:54:02" "01537" "2012-12-10 10:51:18" "SEQ" "DNA" "" "" "0000104512" "00104041" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000209259" "00208212" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000209260" "00208213" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000209261" "00208214" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000209262" "00208215" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000209263" "00208216" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000209264" "00208217" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000209265" "00208218" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000209266" "00208219" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000209267" "00208220" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000209268" "00208221" "1" "00006" "00006" "2018-12-08 16:49:20" "" "" "SEQ" "DNA" "" "" "0000309171" "00308027" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000373294" "00372066" "1" "01164" "01164" "2021-05-06 17:27:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000381981" "00380767" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000416554" "00415272" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000418135" "00416853" "1" "00000" "03840" "2022-09-08 10:25:47" "" "" "arraySNP;SEQ-NG-I;SEQ" "DNA" "" "" "0000441921" "00440436" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457398" "00455782" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000469445" "00467779" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000470959" "00469291" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470960" "00469292" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{geneid}}" "0000058667" "RNASEH2B" "0000058668" "RNASEH2B" "0000058669" "RNASEH2B" "0000058670" "RNASEH2B" "0000058671" "RNASEH2B" "0000058672" "RNASEH2B" "0000058673" "RNASEH2B" "0000058674" "RNASEH2B" "0000058675" "RNASEH2B" "0000058676" "RNASEH2B" "0000058677" "RNASEH2B" "0000058678" "RNASEH2B" "0000058679" "RNASEH2B" "0000058680" "RNASEH2B" "0000058681" "RNASEH2B" "0000058682" "RNASEH2B" "0000058683" "RNASEH2B" "0000058684" "RNASEH2B" "0000058685" "RNASEH2B" "0000058686" "RNASEH2B" "0000058687" "RNASEH2B" "0000058688" "RNASEH2B" "0000058689" "RNASEH2B" "0000058690" "RNASEH2B" "0000058691" "RNASEH2B" "0000058730" "RNASEH2B" "0000058731" "RNASEH2B" "0000058732" "RNASEH2B" "0000058733" "RNASEH2B" "0000058734" "RNASEH2B" "0000058735" "RNASEH2B" "0000058736" "RNASEH2B" "0000058737" "RNASEH2B" "0000058738" "RNASEH2B" "0000058739" "RNASEH2B" "0000058740" "RNASEH2B" "0000058741" "RNASEH2B" "0000058742" "RNASEH2B" "0000058743" "RNASEH2B" "0000058744" "RNASEH2B" "0000058745" "RNASEH2B" "0000058746" "RNASEH2B" "0000058764" "RNASEH2B" "0000058765" "RNASEH2B" "0000058768" "RNASEH2B" "0000058769" "RNASEH2B" "0000058770" "RNASEH2B" "0000058771" "RNASEH2B" "0000058772" "RNASEH2B" "0000058773" "RNASEH2B" "0000058774" "RNASEH2B" "0000058775" "RNASEH2B" "0000058776" "RNASEH2B" "0000058777" "RNASEH2B" "0000058778" "RNASEH2B" "0000058779" "RNASEH2B" "0000058780" "RNASEH2B" "0000058781" "RNASEH2B" "0000058782" "RNASEH2B" "0000209259" "RNASEH2B" "0000209260" "RNASEH2B" "0000209261" "RNASEH2B" "0000209262" "RNASEH2B" "0000209263" "RNASEH2B" "0000209264" "RNASEH2B" "0000209265" "RNASEH2B" "0000209266" "RNASEH2B" "0000209267" "RNASEH2B" "0000209268" "RNASEH2B" "0000309171" "RNASEH2B" "0000373294" "RNASEH2B" "0000416554" "RNASEH2B" "0000418135" "RNASEH2B" ## 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 = 179 "{{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}}" "0000087518" "0" "70" "13" "51519581" "51519581" "subst" "0.00138591" "01494" "RNASEH2B_000003" "g.51519581G>A" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "" "{CV:1262}" "Germline" "yes" "rs75184679" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000087519" "0" "70" "13" "51519606" "51519606" "subst" "0" "01494" "RNASEH2B_000002" "g.51519606T>G" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "" "{CV:1263}" "Germline" "yes" "rs74555752" "0" "" "" "g.50945470T>G" "" "likely pathogenic" "" "0000089267" "3" "90" "13" "51517505" "51517505" "subst" "0" "00006" "RNASEH2B_000001" "g.51517505A>C" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50943369A>C" "" "pathogenic (recessive)" "" "0000089268" "3" "90" "13" "51519606" "51519606" "subst" "0" "00006" "RNASEH2B_000002" "g.51519606T>G" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945470T>G" "" "pathogenic (recessive)" "" "0000089269" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000089270" "21" "90" "13" "51504831" "51504831" "subst" "4.0623E-6" "00006" "RNASEH2B_000004" "g.51504831A>G" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50930695A>G" "" "pathogenic (recessive)" "" "0000089271" "1" "90" "13" "51517508" "51517508" "subst" "4.06339E-6" "00006" "RNASEH2B_000005" "g.51517508C>T" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50943372C>T" "" "pathogenic (recessive)" "" "0000089272" "21" "90" "13" "51501610" "51501610" "subst" "4.06349E-6" "00006" "RNASEH2B_000006" "g.51501610T>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Unknown" "" "" "0" "" "" "g.50927474T>A" "" "pathogenic" "" "0000089273" "21" "90" "13" "51503653" "51503653" "subst" "0" "00006" "RNASEH2B_000007" "g.51503653T>G" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50929517T>G" "" "pathogenic (recessive)" "" "0000089274" "21" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000008" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000089275" "0" "90" "13" "51522191" "51522191" "subst" "4.08861E-6" "00006" "RNASEH2B_000009" "g.51522191T>C" "" "" "" "" "compound heterozygous with c.529G>A" "Unknown" "" "" "0" "" "" "g.50948055T>C" "" "pathogenic" "" "0000089276" "0" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000010" "g.51519581G>A" "" "" "" "" "heterozygous mutation de novo" "De novo" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089277" "3" "90" "13" "51501606" "51501606" "subst" "0" "00006" "RNASEH2B_000011" "g.51501606C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50927470C>A" "" "pathogenic" "" "0000089278" "3" "90" "13" "51501610" "51501610" "subst" "4.06349E-6" "00006" "RNASEH2B_000012" "g.51501610T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50927474T>A" "" "pathogenic" "" "0000089279" "3" "90" "13" "51503646" "51503646" "subst" "4.06349E-6" "00006" "RNASEH2B_000013" "g.51503646C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50929510C>T" "" "pathogenic" "" "0000089280" "3" "90" "13" "51503653" "51503653" "subst" "0" "00006" "RNASEH2B_000014" "g.51503653T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50929517T>G" "" "pathogenic" "" "0000089281" "3" "90" "13" "51503692" "51503692" "subst" "0" "00006" "RNASEH2B_000015" "g.51503692G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50929556G>T" "" "pathogenic" "" "0000089282" "3" "90" "13" "51504821" "51504821" "subst" "0" "00006" "RNASEH2B_000016" "g.51504821G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50930685G>A" "" "pathogenic" "" "0000089283" "3" "90" "13" "51504831" "51504831" "subst" "4.0623E-6" "00006" "RNASEH2B_000017" "g.51504831A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50930695A>G" "" "pathogenic" "" "0000089284" "3" "90" "13" "51509111" "51509111" "subst" "2.43881E-5" "00006" "RNASEH2B_000018" "g.51509111C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50934975C>T" "" "pathogenic" "" "0000089285" "3" "90" "13" "51517496" "51517496" "subst" "0" "00006" "RNASEH2B_000019" "g.51517496G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50943360G>T" "" "pathogenic" "" "0000089286" "3" "90" "13" "51517505" "51517505" "subst" "0" "00006" "RNASEH2B_000020" "g.51517505A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50943369A>C" "" "pathogenic" "" "0000089287" "3" "90" "13" "51517508" "51517508" "subst" "4.06339E-6" "00006" "RNASEH2B_000021" "g.51517508C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50943372C>T" "" "pathogenic" "" "0000089288" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000022" "g.51519581G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089289" "3" "90" "13" "51519599" "51519599" "subst" "0" "00006" "RNASEH2B_000023" "g.51519599G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50945463G>A" "" "pathogenic" "" "0000089290" "3" "90" "13" "51519606" "51519606" "subst" "0" "00006" "RNASEH2B_000024" "g.51519606T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50945470T>G" "" "pathogenic" "" "0000089291" "3" "90" "13" "51522161" "51522161" "subst" "0" "00006" "RNASEH2B_000025" "g.51522161T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50948025T>C" "" "pathogenic" "" "0000089330" "1" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089331" "21" "70" "13" "51517518" "51517518" "subst" "4.06392E-6" "01536" "RNASEH2B_000026" "g.51517518G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50943382G>T" "" "likely pathogenic" "" "0000089332" "11" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089333" "21" "90" "13" "51501615" "51501615" "del" "0" "01536" "RNASEH2B_000028" "g.51501615del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50927479del" "" "pathogenic" "" "0000089334" "2" "90" "13" "51517508" "51517508" "subst" "4.06339E-6" "01536" "RNASEH2B_000005" "g.51517508C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50943372C>T" "" "pathogenic" "" "0000089335" "21" "90" "13" "51503719" "51503719" "subst" "4.08247E-6" "01536" "RNASEH2B_000029" "g.51503719G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50929583G>T" "" "pathogenic" "" "0000089336" "10" "70" "13" "51517496" "51517496" "subst" "0" "01536" "RNASEH2B_000019" "g.51517496G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50943360G>T" "" "likely pathogenic" "" "0000089337" "11" "90" "13" "51484277" "51484277" "subst" "0" "01536" "RNASEH2B_000030" "g.51484277G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50910141G>A" "" "pathogenic" "" "0000089338" "1" "90" "13" "51517505" "51517505" "subst" "0" "01536" "RNASEH2B_000001" "g.51517505A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50943369A>C" "" "pathogenic" "" "0000089339" "2" "70" "13" "51509135" "51509135" "subst" "0" "01536" "RNASEH2B_000031" "g.51509135G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50934999G>A" "" "likely pathogenic" "" "0000089340" "21" "90" "13" "51484243" "51484243" "dup" "0" "01536" "RNASEH2B_000032" "g.51484243dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50910107dup" "" "pathogenic" "" "0000089341" "1" "70" "13" "51522138" "51522138" "subst" "0" "01536" "RNASEH2B_000034" "g.51522138A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50948002A>G" "" "likely pathogenic" "" "0000089342" "1" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "single heterozygous mutation after partial testing - second remains uncharacterised" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089343" "0" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "homozygosity for the TREX1 mutation c.341G>A as well, sufficient to be causative - unclear significance of RNASEH2B finding" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089344" "0" "30" "13" "51519607" "51519607" "subst" "2.03173E-5" "01536" "RNASEH2B_000035" "g.51519607C>G" "" "" "" "" "heterozygous variant" "Germline" "" "" "0" "" "" "g.50945471C>G" "" "likely benign" "" "0000089345" "0" "30" "13" "51530596" "51530596" "dup" "0" "01536" "RNASEH2B_000036" "g.51530596dup" "" "" "" "" "with biallelic causative mutations in RNASEH2C or SAMHD1" "Germline" "" "" "0" "" "" "g.50956460dup" "" "likely benign" "" "0000089346" "0" "30" "13" "51530596" "51530596" "dup" "0" "01536" "RNASEH2B_000036" "g.51530596dup" "" "" "" "" "heterozygous variant" "Germline" "" "" "0" "" "" "g.50956460dup" "" "likely benign" "" "0000089364" "1" "77" "13" "51484265" "51484265" "subst" "0" "00006" "RNASEH2B_000037" "g.51484265T>C" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.50910129T>C" "" "likely pathogenic" "" "0000089365" "1" "77" "13" "51501614" "51501615" "ins" "0" "00006" "RNASEH2B_000038" "g.51501614_51501615insT" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "c.136+1 inst (IVS 2-3)" "" "Germline" "" "" "0" "" "" "g.50927478_50927479insT" "" "likely pathogenic" "" "0000089368" "1" "77" "13" "51501615" "51501615" "del" "0" "00006" "RNASEH2B_000028" "g.51501615del" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50927479del" "" "likely pathogenic" "" "0000089369" "1" "77" "13" "51501615" "51501615" "del" "0" "00006" "RNASEH2B_000028" "g.51501615del" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50927479del" "" "likely pathogenic" "" "0000089370" "1" "77" "13" "51501615" "51501615" "del" "0" "00006" "RNASEH2B_000028" "g.51501615del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.50927479del" "" "likely pathogenic" "" "0000089371" "1" "77" "13" "51501615" "51501615" "del" "0" "00006" "RNASEH2B_000028" "g.51501615del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50927479del" "" "likely pathogenic" "" "0000089372" "1" "77" "13" "51501615" "51501615" "del" "0" "00006" "RNASEH2B_000028" "g.51501615del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.50927479del" "" "likely pathogenic" "" "0000089373" "1" "77" "13" "51501615" "51501615" "del" "0" "00006" "RNASEH2B_000028" "g.51501615del" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50927479del" "" "likely pathogenic" "" "0000089374" "1" "77" "13" "51501615" "51501615" "del" "0" "00006" "RNASEH2B_000028" "g.51501615del" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50927479del" "" "likely pathogenic" "" "0000089375" "1" "77" "13" "51503719" "51503719" "subst" "4.08247E-6" "00006" "RNASEH2B_000029" "g.51503719G>T" "" "{PMID:Rice 2007:17846997}" "" "c.243+1G>T" "" "Unknown" "" "" "0" "" "" "g.50929583G>T" "" "likely pathogenic" "" "0000089376" "2" "77" "13" "51503719" "51503719" "subst" "4.08247E-6" "00006" "RNASEH2B_000029" "g.51503719G>T" "" "{PMID:Rice 2007:17846997}" "" "c.243+1G>T" "" "Unknown" "" "" "0" "" "" "g.50929583G>T" "" "likely pathogenic" "" "0000089377" "2" "77" "13" "51503719" "51503719" "subst" "4.08247E-6" "00006" "RNASEH2B_000029" "g.51503719G>T" "" "{PMID:Rice 2007:17846997}" "" "c.243+1G>T" "" "Unknown" "" "" "0" "" "" "g.50929583G>T" "" "likely pathogenic" "" "0000089378" "2" "77" "13" "51503719" "51503719" "subst" "4.08247E-6" "00006" "RNASEH2B_000029" "g.51503719G>T" "" "{PMID:Rice 2007:17846997}" "" "c.243+1G>T" "" "Unknown" "" "" "0" "" "" "g.50929583G>T" "" "likely pathogenic" "" "0000089379" "1" "77" "13" "51509136" "51509136" "subst" "0" "00006" "RNASEH2B_000039" "g.51509136G>T" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50935000G>T" "" "likely pathogenic" "" "0000089380" "1" "77" "13" "51517531" "51517531" "subst" "4.06481E-6" "00006" "RNASEH2B_000040" "g.51517531G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50943395G>A" "" "likely pathogenic" "" "0000089381" "1" "77" "13" "51517531" "51517531" "subst" "4.06481E-6" "00006" "RNASEH2B_000040" "g.51517531G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50943395G>A" "" "likely pathogenic" "" "0000089382" "1" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089392" "2" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089393" "11" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089394" "21" "70" "13" "51522140" "51522140" "subst" "0" "01536" "RNASEH2B_000027" "g.51522140G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50948004G>A" "" "likely pathogenic" "" "0000089395" "11" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089396" "1" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089397" "11" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089398" "21" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089399" "21" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089400" "2" "90" "13" "51517505" "51517505" "subst" "0" "01536" "RNASEH2B_000001" "g.51517505A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50943369A>C" "" "pathogenic" "" "0000089401" "1" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01536" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089402" "11" "90" "13" "51504837" "51504837" "subst" "8.1246E-6" "01536" "RNASEH2B_000033" "g.51504837C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50930701C>G" "" "pathogenic" "" "0000089403" "2" "70" "13" "51522138" "51522138" "subst" "0" "01536" "RNASEH2B_000034" "g.51522138A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50948002A>G" "" "likely pathogenic" "" "0000089416" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089417" "2" "77" "13" "51509111" "51509111" "subst" "2.43881E-5" "00006" "RNASEH2B_000018" "g.51509111C>T" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.50934975C>T" "" "likely pathogenic" "" "0000089419" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089420" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089421" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089422" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089423" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089424" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089425" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089426" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089427" "1" "97" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000089428" "1" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089429" "1" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089430" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089431" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089432" "0" "77" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rice 2007:17846997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000089433" "2" "77" "13" "51519669" "51519669" "subst" "0" "00006" "RNASEH2B_000041" "g.51519669G>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.50945533G>A" "" "likely pathogenic" "" "0000169449" "0" "70" "13" "51530530" "51530530" "subst" "0.00441193" "00587" "RNASEH2B_000042" "g.51530530G>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_024570.3(RNASEH2B):c.859G>T p.(Ala287Ser)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.50956394G>T" "" "likely pathogenic" "" "0000248274" "0" "30" "13" "51517475" "51517475" "subst" "0.000749076" "02325" "RNASEH2B_000048" "g.51517475A>G" "" "" "" "RNASEH2B(NM_001142279.2):c.455A>G (p.N152S), RNASEH2B(NM_024570.3):c.455A>G (p.N152S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50943339A>G" "" "likely benign" "" "0000249395" "0" "30" "13" "51528055" "51528055" "subst" "0.000391086" "02325" "RNASEH2B_000051" "g.51528055A>G" "" "" "" "RNASEH2B(NM_024570.3):c.756A>G (p.S252=), RNASEH2B(NM_024570.4):c.756A>G (p.S252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50953919A>G" "" "likely benign" "" "0000251092" "0" "10" "13" "51530596" "51530596" "del" "0" "02326" "RNASEH2B_000057" "g.51530596del" "" "" "" "RNASEH2B(NM_024570.3):c.925delA (p.I309Lfs*26), RNASEH2B(NM_024570.4):c.925del (p.(Ile309Leufs*26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50956460del" "" "benign" "" "0000251720" "0" "30" "13" "51517475" "51517475" "subst" "0.000749076" "02326" "RNASEH2B_000048" "g.51517475A>G" "" "" "" "RNASEH2B(NM_001142279.2):c.455A>G (p.N152S), RNASEH2B(NM_024570.3):c.455A>G (p.N152S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50943339A>G" "" "likely benign" "" "0000253473" "0" "10" "13" "51503663" "51503663" "subst" "0.00261699" "01943" "RNASEH2B_000045" "g.51503663A>G" "" "" "" "RNASEH2B(NM_024570.3):c.189A>G (p.V63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50929527A>G" "" "benign" "" "0000254597" "0" "30" "13" "51522203" "51522203" "subst" "2.86599E-5" "01943" "RNASEH2B_000050" "g.51522203A>C" "" "" "" "RNASEH2B(NM_001142279.2):c.697A>C (p.K233Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50948067A>C" "" "likely benign" "" "0000255370" "0" "50" "13" "51528086" "51528086" "subst" "0.000325927" "01943" "RNASEH2B_000052" "g.51528086A>G" "" "" "" "RNASEH2B(NM_024570.3):c.787A>G (p.T263A), RNASEH2B(NM_024570.4):c.787A>G (p.(Thr263Ala), p.T263A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50953950A>G" "" "VUS" "" "0000297681" "0" "90" "13" "51519581" "51519581" "subst" "0.00138591" "02325" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T, p.(Ala177Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000297682" "0" "50" "13" "51530498" "51530498" "dup" "0" "02325" "RNASEH2B_000055" "g.51530498dup" "" "" "" "RNASEH2B(NM_024570.4):c.827dupA (p.N276Kfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50956362dup" "" "VUS" "" "0000297683" "0" "10" "13" "51530596" "51530596" "dup" "0" "02325" "RNASEH2B_000058" "g.51530596dup" "" "" "" "RNASEH2B(NM_024570.3):c.925dupA (p.I309Nfs*8), RNASEH2B(NM_024570.4):c.925dup (p.(Ile309Asnfs*8)), RNASEH2B(NM_024570.4):c.925dupA (p.I309Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50956460dup" "" "benign" "" "0000301467" "0" "90" "13" "51519581" "51519581" "subst" "0.00138591" "02326" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T, p.(Ala177Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000301468" "0" "10" "13" "51522093" "51522093" "del" "0" "02326" "RNASEH2B_000049" "g.51522093del" "" "" "" "RNASEH2B(NM_024570.3):c.617-30delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50947957del" "" "benign" "" "0000301469" "0" "10" "13" "51528127" "51528127" "subst" "0.00180152" "02326" "RNASEH2B_000053" "g.51528127T>C" "" "" "" "RNASEH2B(NM_024570.3):c.822+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50953991T>C" "" "benign" "" "0000301470" "0" "30" "13" "51530530" "51530530" "subst" "0.00441193" "02326" "RNASEH2B_000042" "g.51530530G>T" "" "" "" "RNASEH2B(NM_024570.3):c.859G>T (p.A287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50956394G>T" "" "likely benign" "" "0000307129" "0" "30" "13" "51503630" "51503630" "subst" "0.00245905" "01943" "RNASEH2B_000044" "g.51503630G>A" "" "" "" "RNASEH2B(NM_024570.3):c.156G>A (p.L52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50929494G>A" "" "likely benign" "" "0000307130" "0" "10" "13" "51504795" "51504795" "subst" "0.000561071" "01943" "RNASEH2B_000046" "g.51504795C>T" "" "" "" "RNASEH2B(NM_024570.3):c.245-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50930659C>T" "" "benign" "" "0000307131" "0" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01943" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T, p.(Ala177Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0000307132" "0" "30" "13" "51501529" "51501529" "subst" "5.28687E-5" "01943" "RNASEH2B_000043" "g.51501529C>T" "" "" "" "RNASEH2B(NM_024570.3):c.65-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50927393C>T" "" "likely benign" "" "0000307133" "0" "10" "13" "51530477" "51530477" "subst" "0" "01943" "RNASEH2B_000054" "g.51530477C>T" "" "" "" "RNASEH2B(NM_024570.3):c.823-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50956341C>T" "" "benign" "" "0000307134" "0" "10" "13" "51530530" "51530530" "subst" "0.00441193" "01943" "RNASEH2B_000042" "g.51530530G>T" "" "" "" "RNASEH2B(NM_024570.3):c.859G>T (p.A287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50956394G>T" "" "benign" "" "0000307135" "0" "50" "13" "51530547" "51530547" "subst" "0" "01943" "RNASEH2B_000056" "g.51530547T>G" "" "" "" "RNASEH2B(NM_024570.3):c.876T>G (p.S292R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50956411T>G" "" "VUS" "" "0000307136" "0" "10" "13" "51530596" "51530596" "dup" "0" "01943" "RNASEH2B_000058" "g.51530596dup" "" "" "" "RNASEH2B(NM_024570.3):c.925dupA (p.I309Nfs*8), RNASEH2B(NM_024570.4):c.925dup (p.(Ile309Asnfs*8)), RNASEH2B(NM_024570.4):c.925dupA (p.I309Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50956460dup" "" "benign" "" "0000323410" "0" "50" "13" "51504843" "51504843" "subst" "0.000129995" "01804" "RNASEH2B_000047" "g.51504843C>T" "" "" "" "RNASEH2B(NM_001142279.2):c.269C>T (p.(Pro90Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50930707C>T" "" "VUS" "" "0000343893" "0" "70" "13" "51509055" "51509055" "subst" "0" "02327" "RNASEH2B_000059" "g.51509055A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50934919A>G" "" "likely pathogenic" "" "0000350366" "0" "70" "13" "51519606" "51519606" "subst" "0" "02327" "RNASEH2B_000002" "g.51519606T>G" "" "" "" "RNASEH2B(NM_001142279.2):c.554T>G (p.V185G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50945470T>G" "" "likely pathogenic" "" "0000439403" "11" "90" "13" "51522161" "51522161" "subst" "0" "00006" "RNASEH2B_000025" "g.51522161T>C" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50948025T>C" "" "pathogenic" "" "0000439404" "11" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439405" "2" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439406" "11" "90" "13" "51519606" "51519606" "subst" "0" "00006" "RNASEH2B_000002" "g.51519606T>G" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945470T>G" "" "pathogenic (recessive)" "" "0000439407" "11" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439408" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439409" "3" "90" "13" "51519606" "51519606" "subst" "0" "00006" "RNASEH2B_000002" "g.51519606T>G" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945470T>G" "" "pathogenic (recessive)" "" "0000439410" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439411" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439412" "1" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439413" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439414" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439415" "21" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439416" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000439417" "21" "90" "13" "51517508" "51517508" "subst" "4.06339E-6" "00006" "RNASEH2B_000005" "g.51517508C>T" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50943372C>T" "" "pathogenic (recessive)" "" "0000439418" "2" "90" "13" "51517508" "51517508" "subst" "4.06339E-6" "00006" "RNASEH2B_000005" "g.51517508C>T" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50943372C>T" "" "pathogenic (recessive)" "" "0000439419" "11" "90" "13" "51517531" "51517531" "subst" "4.06481E-6" "00006" "RNASEH2B_000040" "g.51517531G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50943395G>A" "" "pathogenic (recessive)" "" "0000439420" "11" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Crow 2006:16845400}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000550905" "0" "10" "13" "51508967" "51508967" "subst" "0" "02326" "RNASEH2B_000060" "g.51508967T>G" "" "" "" "RNASEH2B(NM_024570.3):c.322-54T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50934831T>G" "" "benign" "" "0000550906" "0" "30" "13" "51517475" "51517475" "subst" "0.000749076" "01943" "RNASEH2B_000048" "g.51517475A>G" "" "" "" "RNASEH2B(NM_001142279.2):c.455A>G (p.N152S), RNASEH2B(NM_024570.3):c.455A>G (p.N152S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50943339A>G" "" "likely benign" "" "0000550907" "0" "50" "13" "51519614" "51519614" "subst" "3.251E-5" "01943" "RNASEH2B_000061" "g.51519614C>T" "" "" "" "RNASEH2B(NM_001142279.2):c.562C>T (p.R188W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50945478C>T" "" "VUS" "" "0000550908" "0" "30" "13" "51528061" "51528061" "subst" "7.33168E-5" "01943" "RNASEH2B_000062" "g.51528061G>A" "" "" "" "RNASEH2B(NM_024570.3):c.762G>A (p.E254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50953925G>A" "" "likely benign" "" "0000550910" "0" "30" "13" "51530596" "51530596" "dup" "0" "01804" "RNASEH2B_000036" "g.51530596dup" "" "" "" "RNASEH2B(NM_024570.3):c.925dupA (p.I309Nfs*8), RNASEH2B(NM_024570.4):c.925dup (p.(Ile309Asnfs*8)), RNASEH2B(NM_024570.4):c.925dupA (p.I309Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50956460dup" "" "likely benign" "" "0000550911" "0" "30" "13" "51530599" "51530599" "subst" "1.82251E-5" "02326" "RNASEH2B_000063" "g.51530599G>A" "" "" "" "RNASEH2B(NM_024570.3):c.928G>A (p.G310R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50956463G>A" "" "likely benign" "" "0000614661" "0" "30" "13" "51503647" "51503647" "subst" "0.00010158" "01943" "RNASEH2B_000064" "g.51503647A>G" "" "" "" "RNASEH2B(NM_001142279.2):c.173A>G (p.Q58R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50929511A>G" "" "likely benign" "" "0000614662" "0" "50" "13" "51519614" "51519614" "subst" "3.251E-5" "02325" "RNASEH2B_000061" "g.51519614C>T" "" "" "" "RNASEH2B(NM_001142279.2):c.562C>T (p.R188W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50945478C>T" "" "VUS" "" "0000623071" "0" "90" "13" "51519581" "51519581" "subst" "0.00138591" "02329" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T, p.(Ala177Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50945445G>A" "" "pathogenic" "" "0000657309" "0" "50" "13" "51509004" "51509004" "subst" "4.22901E-6" "02325" "RNASEH2B_000065" "g.51509004A>G" "" "" "" "RNASEH2B(NM_001142279.2):c.322-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50934868A>G" "" "VUS" "" "0000657310" "0" "30" "13" "51519601" "51519601" "subst" "0.000105653" "01943" "RNASEH2B_000066" "g.51519601G>A" "" "" "" "RNASEH2B(NM_001142279.2):c.549G>A (p.V183=), RNASEH2B(NM_024570.3):c.549G>A (p.V183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50945465G>A" "" "likely benign" "" "0000657311" "0" "30" "13" "51544059" "51544059" "subst" "2.01857E-5" "01943" "RNASEH2B_000067" "g.51544059C>T" "" "" "" "RNASEH2B(NM_001142279.2):c.742-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50969923C>T" "" "likely benign" "" "0000679829" "0" "50" "13" "51503677" "51503677" "subst" "0.000243891" "01943" "RNASEH2B_000068" "g.51503677A>G" "" "" "" "RNASEH2B(NM_001142279.2):c.203A>G (p.E68G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683671" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Mahler 2019:31056085}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000691558" "0" "30" "13" "51484284" "51484284" "subst" "0.000232914" "01943" "RNASEH2B_000069" "g.51484284C>T" "" "" "" "RNASEH2B(NM_001142279.2):c.64+8C>T, RNASEH2B(NM_024570.3):c.64+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724557" "0" "30" "13" "51528055" "51528055" "subst" "0.000391086" "01943" "RNASEH2B_000051" "g.51528055A>G" "" "" "" "RNASEH2B(NM_024570.3):c.756A>G (p.S252=), RNASEH2B(NM_024570.4):c.756A>G (p.S252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000783265" "1" "50" "13" "51517489" "51517489" "subst" "0" "01164" "RNASEH2B_000070" "g.51517489A>G" "" "" "" "" "ACMG: PM2_SUP, PM3_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000783266" "2" "50" "13" "51517496" "51517496" "subst" "0" "01164" "RNASEH2B_000019" "g.51517496G>T" "" "" "" "" "ACMG: PM2_SUP, PM3_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000795615" "3" "70" "13" "51519581" "51519581" "subst" "0.00138591" "00000" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Nair 2018:30293248}" "" "NM_024570.3:c.529G>A; p.Ala177Thr" "" "Unknown" "?" "rs75184679" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000806196" "0" "30" "13" "51484284" "51484284" "subst" "0.000232914" "02326" "RNASEH2B_000069" "g.51484284C>T" "" "" "" "RNASEH2B(NM_001142279.2):c.64+8C>T, RNASEH2B(NM_024570.3):c.64+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806197" "0" "50" "13" "51528086" "51528086" "subst" "0.000325927" "02325" "RNASEH2B_000052" "g.51528086A>G" "" "" "" "RNASEH2B(NM_024570.3):c.787A>G (p.T263A), RNASEH2B(NM_024570.4):c.787A>G (p.(Thr263Ala), p.T263A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853691" "0" "90" "13" "51519606" "51519606" "subst" "0" "01943" "RNASEH2B_000002" "g.51519606T>G" "" "" "" "RNASEH2B(NM_001142279.2):c.554T>G (p.V185G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853692" "0" "30" "13" "51530585" "51530585" "subst" "0" "01943" "RNASEH2B_000071" "g.51530585A>C" "" "" "" "RNASEH2B(NM_024570.3):c.914A>C (p.N305T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872180" "0" "70" "13" "51517529" "51517529" "subst" "4.06458E-6" "03779" "RNASEH2B_000072" "g.51517529A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1475724702" "0" "" "" "" "" "likely pathogenic" "" "0000874682" "3" "70" "13" "51509055" "51509055" "subst" "0" "00000" "RNASEH2B_000059" "g.51509055A>G" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "RNASEH2B, NM_024570.3, c.356A>G, p.Asp119Gly" "homozygous" "Unknown" "?" "" "0" "" "" "g.50934919A>G" "" "likely pathogenic" "ACMG" "0000877878" "0" "70" "13" "51519581" "51519581" "subst" "0.00138591" "00000" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Rump 2016:26846091}" "" "RNASEH2B c.529G > A, p.A177T" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.50945445G>A" "" "likely pathogenic" "" "0000877883" "0" "70" "13" "51519606" "51519606" "subst" "0" "00000" "RNASEH2B_000002" "g.51519606T>G" "" "{PMID:Rump 2016:26846091}" "" "RNASEH2B c.554 T > G, p.V185G" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.50945470T>G" "" "likely pathogenic" "" "0000891558" "0" "30" "13" "51519601" "51519601" "subst" "0.000105653" "02326" "RNASEH2B_000066" "g.51519601G>A" "" "" "" "RNASEH2B(NM_001142279.2):c.549G>A (p.V183=), RNASEH2B(NM_024570.3):c.549G>A (p.V183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925813" "0" "10" "13" "51530596" "51530596" "dup" "0" "02329" "RNASEH2B_000036" "g.51530596dup" "" "" "" "RNASEH2B(NM_024570.3):c.925dupA (p.I309Nfs*8), RNASEH2B(NM_024570.4):c.925dup (p.(Ile309Asnfs*8)), RNASEH2B(NM_024570.4):c.925dupA (p.I309Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000939863" "3" "90" "13" "51519581" "51519581" "subst" "0.00138591" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic (recessive)" "" "0000950172" "0" "30" "13" "51517536" "51517536" "subst" "0" "02326" "RNASEH2B_000073" "g.51517536G>T" "" "" "" "RNASEH2B(NM_024570.3):c.510+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950173" "0" "90" "13" "51519581" "51519581" "subst" "0.00138591" "02327" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T, p.(Ala177Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967339" "0" "70" "13" "51509004" "51509004" "subst" "4.22901E-6" "02329" "RNASEH2B_000065" "g.51509004A>G" "" "" "" "RNASEH2B(NM_001142279.2):c.322-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980701" "0" "90" "13" "51519581" "51519581" "subst" "0.00138591" "01804" "RNASEH2B_000003" "g.51519581G>A" "" "" "" "RNASEH2B(NM_001142279.2):c.529G>A (p.A177T), RNASEH2B(NM_024570.3):c.529G>A (p.A177T, p.(Ala177Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980702" "0" "50" "13" "51530498" "51530498" "subst" "0" "01804" "RNASEH2B_000074" "g.51530498A>G" "" "" "" "RNASEH2B(NM_024570.4):c.827A>G (p.(Asn276Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011901" "3" "90" "13" "51504827" "51504827" "subst" "4.0623E-6" "00006" "RNASEH2B_000075" "g.51504827C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.50930691C>T" "SUB7797683" "pathogenic (recessive)" "" "0001026339" "0" "30" "13" "51530566" "51530566" "subst" "0.000628947" "02326" "RNASEH2B_000076" "g.51530566A>G" "" "" "" "RNASEH2B(NM_024570.3):c.895A>G (p.T299A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039725" "0" "50" "13" "51501567" "51501569" "del" "0" "01804" "RNASEH2B_000077" "g.51501567_51501569del" "" "" "" "RNASEH2B(NM_024570.4):c.89_91del (p.(Lys30del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039726" "0" "50" "13" "51528086" "51528086" "subst" "0.000325927" "01804" "RNASEH2B_000052" "g.51528086A>G" "" "" "" "RNASEH2B(NM_024570.3):c.787A>G (p.T263A), RNASEH2B(NM_024570.4):c.787A>G (p.(Thr263Ala), p.T263A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049743" "3" "70" "13" "51509055" "51509055" "subst" "0" "00006" "RNASEH2B_000059" "g.51509055A>G" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PS1_mod, PM2, PP3" "Germline" "" "" "0" "" "" "g.50934919A>G" "" "likely pathogenic (recessive)" "" "0001054670" "0" "50" "13" "51484216" "51484216" "subst" "0" "01804" "RNASEH2B_000078" "g.51484216G>C" "" "" "" "RNASEH2B(NM_024570.4):c.4G>C (p.(Ala2Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054671" "0" "30" "13" "51530593" "51530596" "del" "0" "01804" "RNASEH2B_000079" "g.51530593_51530596del" "" "" "" "RNASEH2B(NM_024570.4):c.922_925del (p.(Lys308Leufs*26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054672" "0" "50" "13" "51530596" "51530596" "del" "0" "01804" "RNASEH2B_000057" "g.51530596del" "" "" "" "RNASEH2B(NM_024570.3):c.925delA (p.I309Lfs*26), RNASEH2B(NM_024570.4):c.925del (p.(Ile309Leufs*26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059081" "0" "90" "13" "51519581" "51519581" "subst" "" "00006" "RNASEH2B_000003" "g.51519581G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.50945445G>A" "" "pathogenic" "" "0001059082" "0" "70" "13" "51504811" "51504811" "subst" "" "00006" "chr13_002601" "g.51504811A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.50930675A>G" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RNASEH2B ## Count = 179 "{{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}}" "0000087518" "00017849" "70" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000087519" "00017849" "70" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Val185Gly)" "7" "0000089267" "00017849" "90" "485" "0" "485" "0" "c.485A>C" "r.(?)" "p.(Lys162Thr)" "6" "0000089268" "00017849" "90" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Val185Gly)" "7" "0000089269" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089270" "00017849" "90" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "4" "0000089271" "00017849" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Thr163Ile)" "6" "0000089272" "00017849" "90" "132" "0" "132" "0" "c.132T>A" "r.(?)" "p.(Cys44*)" "2" "0000089273" "00017849" "90" "179" "0" "179" "0" "c.179T>G" "r.(?)" "p.(Leu60Arg)" "3" "0000089274" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089275" "00017849" "90" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Ser229Pro)" "8" "0000089276" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089277" "00017849" "90" "128" "0" "128" "0" "c.128C>A" "r.(?)" "p.(Pro43His)" "2" "0000089278" "00017849" "90" "132" "0" "132" "0" "c.132T>A" "r.(?)" "p.(Cys44*)" "2" "0000089279" "00017849" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Gln58*)" "3" "0000089280" "00017849" "90" "179" "0" "179" "0" "c.179T>G" "r.(?)" "p.(Leu60Arg)" "3" "0000089281" "00017849" "90" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Trp73Leu)" "3" "0000089282" "00017849" "90" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Gly83Ser)" "4" "0000089283" "00017849" "90" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "4" "0000089284" "00017849" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Leu138Phe)" "5" "0000089285" "00017849" "90" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Ser159Ile)" "6" "0000089286" "00017849" "90" "485" "0" "485" "0" "c.485A>C" "r.(?)" "p.(Lys162Thr)" "6" "0000089287" "00017849" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Thr163Ile)" "6" "0000089288" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089289" "00017849" "90" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Val183Met)" "7" "0000089290" "00017849" "90" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Val185Gly)" "7" "0000089291" "00017849" "90" "655" "0" "655" "0" "c.655T>C" "r.(?)" "p.(Tyr219His)" "8" "0000089330" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089331" "00017849" "70" "498" "0" "498" "0" "c.498G>T" "r.(?)" "p.(Trp166Cys)" "6" "0000089332" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089333" "00017849" "90" "136" "1" "136" "1" "c.136+1del" "r.spl?" "p.(Gly46GlufsTer18)" "2i" "0000089334" "00017849" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Thr163Ile)" "6" "0000089335" "00017849" "90" "244" "1" "244" "1" "c.244+1G>T" "r.spl?" "p.?" "3i" "0000089336" "00017849" "70" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Ser159Ile)" "6" "0000089337" "00017849" "90" "64" "1" "64" "1" "c.64+1G>A" "r.spl?" "p.?" "1i" "0000089338" "00017849" "90" "485" "0" "485" "0" "c.485A>C" "r.(?)" "p.(Lys162Thr)" "6" "0000089339" "00017849" "70" "436" "0" "436" "0" "c.436G>A" "r.spl?" "p.(Gly146Ser)" "5" "0000089340" "00017849" "90" "31" "0" "31" "0" "c.31dup" "r.(?)" "p.(Val11Glyfs*32)" "1" "0000089341" "00017849" "70" "632" "0" "632" "0" "c.632A>G" "r.(?)" "p.(Tyr211Cys)" "8" "0000089342" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089343" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089344" "00017849" "30" "555" "0" "555" "0" "c.555C>G" "r.(?)" "p.(=)" "7" "0000089345" "00017849" "30" "925" "0" "925" "0" "c.925dup" "r.(?)" "p.(Ile309Asnfs*8)" "11" "0000089346" "00017849" "30" "925" "0" "925" "0" "c.925dup" "r.(?)" "p.(Ile309Asnfs*8)" "11" "0000089364" "00017849" "77" "53" "0" "53" "0" "c.53T>C" "r.(?)" "p.(Phe18Ser)" "1" "0000089365" "00017849" "77" "136" "0" "136" "1" "c.136_136+1insT" "r.spl?" "p.?" "2i" "0000089368" "00017849" "77" "136" "1" "136" "1" "c.136+1del" "r.spl?" "p.?" "2i" "0000089369" "00017849" "77" "136" "1" "136" "1" "c.136+1del" "r.spl?" "p.?" "2i" "0000089370" "00017849" "77" "136" "1" "136" "1" "c.136+1del" "r.spl?" "p.?" "2i" "0000089371" "00017849" "77" "136" "1" "136" "1" "c.136+1del" "r.spl?" "p.?" "2i" "0000089372" "00017849" "77" "136" "1" "136" "1" "c.136+1del" "r.spl?" "p.?" "2i" "0000089373" "00017849" "77" "136" "1" "136" "1" "c.136+1del" "r.spl?" "p.?" "2i" "0000089374" "00017849" "77" "136" "1" "136" "1" "c.136+1del" "r.spl?" "p.?" "2i" "0000089375" "00017849" "77" "244" "1" "244" "1" "c.244+1G>T" "r.spl?" "p.(=)" "3i" "0000089376" "00017849" "77" "244" "1" "244" "1" "c.244+1G>T" "r.spl?" "p.(=)" "3i" "0000089377" "00017849" "77" "244" "1" "244" "1" "c.244+1G>T" "r.spl?" "p.(=)" "3i" "0000089378" "00017849" "77" "244" "1" "244" "1" "c.244+1G>T" "r.spl?" "p.(=)" "3i" "0000089379" "00017849" "77" "436" "1" "436" "1" "c.436+1G>T" "r.spl?" "p.(=)" "5i" "0000089380" "00017849" "77" "510" "1" "510" "1" "c.510+1G>A" "r.spl?" "p.(=)" "6i" "0000089381" "00017849" "77" "510" "1" "510" "1" "c.510+1G>A" "r.spl?" "p.(=)" "6i" "0000089382" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089392" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089393" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089394" "00017849" "70" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "8" "0000089395" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089396" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089397" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089398" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089399" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089400" "00017849" "90" "485" "0" "485" "0" "c.485A>C" "r.(?)" "p.(Lys162Thr)" "6" "0000089401" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089402" "00017849" "90" "263" "0" "263" "0" "c.263C>G" "r.(?)" "p.(Ala88Gly)" "4" "0000089403" "00017849" "70" "632" "0" "632" "0" "c.632A>G" "r.(?)" "p.(Tyr211Cys)" "8" "0000089416" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089417" "00017849" "77" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Leu138Phe)" "5" "0000089419" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089420" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089421" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089422" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089423" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089424" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089425" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089426" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089427" "00017849" "97" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089428" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089429" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089430" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089431" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089432" "00017849" "77" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000089433" "00017849" "77" "616" "1" "616" "1" "c.616+1G>A" "r.spl?" "p.?" "7i" "0000169449" "00017849" "00" "859" "0" "859" "0" "c.859G>T" "r.(?)" "p.(Ala287Ser)" "" "0000248274" "00017849" "30" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Asn152Ser)" "" "0000249395" "00017849" "30" "756" "0" "756" "0" "c.756A>G" "r.(?)" "p.(Ser252=)" "" "0000251092" "00017849" "10" "925" "0" "925" "0" "c.925del" "r.(?)" "p.(Ile309LeufsTer26)" "" "0000251720" "00017849" "30" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Asn152Ser)" "" "0000253473" "00017849" "10" "189" "0" "189" "0" "c.189A>G" "r.(?)" "p.(Val63=)" "" "0000254597" "00017849" "30" "697" "0" "697" "0" "c.697A>C" "r.(?)" "p.(Lys233Gln)" "" "0000255370" "00017849" "50" "787" "0" "787" "0" "c.787A>G" "r.(?)" "p.(Thr263Ala)" "" "0000297681" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000297682" "00017849" "50" "827" "0" "827" "0" "c.827dup" "r.(?)" "p.(Asn276LysfsTer2)" "" "0000297683" "00017849" "10" "925" "0" "925" "0" "c.925dup" "r.(?)" "p.(Ile309AsnfsTer8)" "" "0000301467" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000301468" "00017849" "10" "617" "-30" "617" "-30" "c.617-30del" "r.(=)" "p.(=)" "" "0000301469" "00017849" "10" "822" "6" "822" "6" "c.822+6T>C" "r.(=)" "p.(=)" "" "0000301470" "00017849" "30" "859" "0" "859" "0" "c.859G>T" "r.(?)" "p.(Ala287Ser)" "" "0000307129" "00017849" "30" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(Leu52=)" "" "0000307130" "00017849" "10" "245" "-24" "245" "-24" "c.245-24C>T" "r.(=)" "p.(=)" "" "0000307131" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000307132" "00017849" "30" "65" "-14" "65" "-14" "c.65-14C>T" "r.(=)" "p.(=)" "" "0000307133" "00017849" "10" "823" "-17" "823" "-17" "c.823-17C>T" "r.(=)" "p.(=)" "" "0000307134" "00017849" "10" "859" "0" "859" "0" "c.859G>T" "r.(?)" "p.(Ala287Ser)" "" "0000307135" "00017849" "50" "876" "0" "876" "0" "c.876T>G" "r.(?)" "p.(Ser292Arg)" "" "0000307136" "00017849" "10" "925" "0" "925" "0" "c.925dup" "r.(?)" "p.(Ile309AsnfsTer8)" "" "0000323410" "00017849" "50" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Pro90Leu)" "" "0000343893" "00017849" "70" "356" "0" "356" "0" "c.356A>G" "r.(?)" "p.(Asp119Gly)" "" "0000350366" "00017849" "70" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Val185Gly)" "" "0000439403" "00017849" "90" "655" "0" "655" "0" "c.655T>C" "r.(?)" "p.(Tyr219His)" "" "0000439404" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000439405" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000439406" "00017849" "90" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Val185Gly)" "" "0000439407" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000439408" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000439409" "00017849" "90" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Val185Gly)" "7" "0000439410" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000439411" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000439412" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000439413" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000439414" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000439415" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000439416" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000439417" "00017849" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Thr163Ile)" "6" "0000439418" "00017849" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Thr163Ile)" "6" "0000439419" "00017849" "90" "510" "1" "510" "1" "c.510+1G>A" "r.spl" "p.?" "" "0000439420" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000550905" "00017849" "10" "322" "-54" "322" "-54" "c.322-54T>G" "r.(=)" "p.(=)" "" "0000550906" "00017849" "30" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Asn152Ser)" "" "0000550907" "00017849" "50" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Trp)" "" "0000550908" "00017849" "30" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Glu254=)" "" "0000550910" "00017849" "30" "925" "0" "925" "0" "c.925dup" "r.(?)" "p.(Ile309AsnfsTer8)" "" "0000550911" "00017849" "30" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Arg)" "" "0000614661" "00017849" "30" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Gln58Arg)" "" "0000614662" "00017849" "50" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Trp)" "" "0000623071" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000657309" "00017849" "50" "322" "-17" "322" "-17" "c.322-17A>G" "r.(=)" "p.(=)" "" "0000657310" "00017849" "30" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(Val183=)" "" "0000657311" "00017849" "30" "14388" "0" "14388" "0" "c.*13449C>T" "r.(=)" "p.(=)" "" "0000679829" "00017849" "50" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Glu68Gly)" "" "0000683671" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000691558" "00017849" "30" "64" "8" "64" "8" "c.64+8C>T" "r.(=)" "p.(=)" "" "0000724557" "00017849" "30" "756" "0" "756" "0" "c.756A>G" "r.(?)" "p.(Ser252=)" "" "0000783265" "00017849" "50" "469" "0" "469" "0" "c.469A>G" "r.(?)" "p.(Lys157Glu)" "" "0000783266" "00017849" "50" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Ser159Ile)" "" "0000795615" "00017849" "70" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000806196" "00017849" "30" "64" "8" "64" "8" "c.64+8C>T" "r.(=)" "p.(=)" "" "0000806197" "00017849" "50" "787" "0" "787" "0" "c.787A>G" "r.(?)" "p.(Thr263Ala)" "" "0000853691" "00017849" "90" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Val185Gly)" "" "0000853692" "00017849" "30" "914" "0" "914" "0" "c.914A>C" "r.(?)" "p.(Asn305Thr)" "" "0000872180" "00017849" "70" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(Lys170Arg)" "" "0000874682" "00017849" "70" "356" "0" "356" "0" "c.356A>G" "r.(?)" "p.(Asp119Gly)" "" "0000877878" "00017849" "70" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "13" "0000877883" "00017849" "70" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Val185Gly)" "13" "0000891558" "00017849" "30" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(Val183=)" "" "0000925813" "00017849" "10" "925" "0" "925" "0" "c.925dup" "r.(?)" "p.(Ile309AsnfsTer8)" "" "0000939863" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "7" "0000950172" "00017849" "30" "510" "6" "510" "6" "c.510+6G>T" "r.(=)" "p.(=)" "" "0000950173" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000967339" "00017849" "70" "322" "-17" "322" "-17" "c.322-17A>G" "r.(=)" "p.(=)" "" "0000980701" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000980702" "00017849" "50" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "" "0001011901" "00017849" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Leu85Phe)" "" "0001026339" "00017849" "30" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Thr299Ala)" "" "0001039725" "00017849" "50" "89" "0" "91" "0" "c.89_91del" "r.(?)" "p.(Lys30del)" "" "0001039726" "00017849" "50" "787" "0" "787" "0" "c.787A>G" "r.(?)" "p.(Thr263Ala)" "" "0001049743" "00017849" "70" "356" "0" "356" "0" "c.356A>G" "r.(?)" "p.(Asp119Gly)" "" "0001054670" "00017849" "50" "4" "0" "4" "0" "c.4G>C" "r.(?)" "p.(Ala2Pro)" "" "0001054671" "00017849" "30" "922" "0" "925" "0" "c.922_925del" "r.(?)" "p.(Lys308Leufs*26)" "" "0001054672" "00017849" "50" "925" "0" "925" "0" "c.925del" "r.(?)" "p.(Ile309LeufsTer26)" "" "0001059081" "00017849" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0001059082" "00017849" "70" "245" "-8" "245" "-8" "c.245-8A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 121 "{{screeningid}}" "{{variantid}}" "0000057226" "0000087518" "0000057226" "0000087519" "0000058667" "0000089267" "0000058668" "0000089268" "0000058669" "0000089269" "0000058670" "0000089270" "0000058670" "0000439407" "0000058671" "0000089271" "0000058671" "0000439405" "0000058672" "0000089272" "0000058672" "0000439403" "0000058673" "0000089273" "0000058673" "0000439404" "0000058674" "0000089274" "0000058674" "0000439406" "0000058675" "0000089275" "0000058676" "0000089276" "0000058677" "0000089277" "0000058678" "0000089278" "0000058679" "0000089279" "0000058680" "0000089280" "0000058681" "0000089281" "0000058682" "0000089282" "0000058683" "0000089283" "0000058684" "0000089284" "0000058685" "0000089285" "0000058686" "0000089286" "0000058687" "0000089287" "0000058688" "0000089288" "0000058689" "0000089289" "0000058690" "0000089290" "0000058691" "0000089291" "0000058730" "0000089330" "0000058730" "0000089392" "0000058731" "0000089331" "0000058731" "0000089393" "0000058732" "0000089332" "0000058732" "0000089394" "0000058733" "0000089333" "0000058733" "0000089395" "0000058734" "0000089334" "0000058734" "0000089396" "0000058735" "0000089335" "0000058735" "0000089397" "0000058736" "0000089336" "0000058736" "0000089398" "0000058737" "0000089337" "0000058737" "0000089399" "0000058738" "0000089338" "0000058738" "0000089400" "0000058739" "0000089339" "0000058739" "0000089401" "0000058740" "0000089340" "0000058740" "0000089402" "0000058741" "0000089341" "0000058741" "0000089403" "0000058742" "0000089342" "0000058743" "0000089343" "0000058744" "0000089344" "0000058745" "0000089345" "0000058746" "0000089346" "0000058764" "0000089364" "0000058764" "0000089416" "0000058765" "0000089365" "0000058765" "0000089417" "0000058768" "0000089368" "0000058768" "0000089419" "0000058769" "0000089369" "0000058769" "0000089420" "0000058770" "0000089370" "0000058770" "0000089421" "0000058771" "0000089371" "0000058771" "0000089422" "0000058772" "0000089372" "0000058772" "0000089423" "0000058773" "0000089373" "0000058773" "0000089424" "0000058774" "0000089374" "0000058774" "0000089425" "0000058775" "0000089375" "0000058775" "0000089426" "0000058776" "0000089376" "0000058776" "0000089427" "0000058777" "0000089377" "0000058777" "0000089428" "0000058778" "0000089378" "0000058778" "0000089429" "0000058779" "0000089379" "0000058779" "0000089430" "0000058780" "0000089380" "0000058780" "0000089431" "0000058781" "0000089381" "0000058781" "0000089432" "0000058782" "0000089382" "0000058782" "0000089433" "0000104512" "0000169449" "0000209259" "0000439408" "0000209260" "0000439409" "0000209261" "0000439410" "0000209262" "0000439411" "0000209263" "0000439412" "0000209263" "0000439418" "0000209264" "0000439413" "0000209265" "0000439414" "0000209266" "0000439415" "0000209266" "0000439419" "0000209267" "0000439416" "0000209268" "0000439417" "0000209268" "0000439420" "0000309171" "0000683671" "0000373294" "0000783265" "0000373294" "0000783266" "0000381981" "0000795615" "0000416554" "0000874682" "0000418135" "0000877878" "0000418135" "0000877883" "0000441921" "0000939863" "0000457398" "0001011901" "0000469445" "0001049743" "0000470959" "0001059081" "0000470960" "0001059082"