### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNASEH2A) # 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}}" "RNASEH2A" "ribonuclease H2, subunit A" "19" "p13.13" "unknown" "NG_012662.1" "UD_132119067607" "" "http://www.LOVD.nl/RNASEH2A" "" "1" "18518" "10535" "606034" "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/RNASEH2A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-02-18 00:00:00" "00006" "2016-02-04 02:17:53" "00006" "2025-09-26 11:27:27" ## 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}}" "00017848" "RNASEH2A" "ribonuclease H2, subunit A" "001" "NM_006397.2" "" "NP_006388.2" "" "" "" "-60" "1082" "900" "12917428" "12924462" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00745" "AGS4" "Aicardi-Goutieres syndrome, type 4 (AGS4)" "AR" "610333" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05129" "AGS" "Aicardi-Goutieres syndrome (AGS)" "" "" "" "" "" "00006" "2016-02-03 07:50:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RNASEH2A" "00139" "RNASEH2A" "00745" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00058741" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058742" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058743" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058744" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058745" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058746" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058747" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058748" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058749" "" "" "" "1" "" "00006" "{PMID20131292:Ramantani 2010}" "" "" "" "" "" "0" "" "" "" "" "00058750" "" "" "" "1" "" "00006" "{PMID20131292:Ramantani 2010}" "" "" "" "" "" "0" "" "" "" "" "00058755" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058756" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058757" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058758" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058785" "" "" "" "2" "" "00006" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "" "" "" "0" "" "" "" "" "00058786" "" "" "" "1" "" "00006" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "" "" "" "0" "" "" "" "" "00058787" "" "" "" "1" "" "00006" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "" "" "" "0" "" "" "" "" "00058788" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00058789" "" "" "" "1" "" "00006" "{PMID21454563:Coffin 2012}" "" "" "" "" "" "0" "" "" "" "" "00058790" "" "" "" "2" "" "00006" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "" "" "" "0" "" "" "" "" "00292041" "" "" "" "143" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292042" "" "" "" "116" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304644" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304645" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00358885" "" "" "" "1" "" "03566" "" "" "" "" "" "" "" "" "" "" "RNASEH2A" "00374459" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4788" "00374621" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2573" "00466861" "" "" "" "2" "" "04901" "" "family, 2 affected (2F)" "F" "yes" "Pakistan" "" "0" "" "" "South Asian" "NDSF05-1" "00466862" "" "" "00466861" "1" "" "04901" "" "sib" "F" "yes" "Pakistan" "" "0" "" "" "South Asian" "NDSF05-2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00058741" "05129" "00058742" "05129" "00058743" "05129" "00058744" "05129" "00058745" "05129" "00058746" "05129" "00058747" "05129" "00058748" "05129" "00058749" "05129" "00058750" "05129" "00058755" "05129" "00058756" "05129" "00058757" "05129" "00058758" "05129" "00058785" "05129" "00058786" "05129" "00058787" "05129" "00058788" "05129" "00058789" "05129" "00058790" "05129" "00292041" "00198" "00292042" "00198" "00304644" "00198" "00304645" "00198" "00358885" "00198" "00374459" "00198" "00374621" "00198" "00466861" "00745" "00466862" "00745" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00745, 05129 ## Count = 25 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000045332" "05129" "00058741" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045333" "05129" "00058742" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045334" "05129" "00058743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045335" "05129" "00058744" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045336" "05129" "00058745" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045337" "05129" "00058746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045338" "05129" "00058747" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045339" "05129" "00058748" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045340" "05129" "00058749" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045341" "05129" "00058750" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045346" "05129" "00058755" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045347" "05129" "00058756" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045348" "05129" "00058757" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045349" "05129" "00058758" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045376" "05129" "00058785" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045377" "05129" "00058786" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045378" "05129" "00058787" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045379" "05129" "00058788" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045380" "05129" "00058789" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045381" "05129" "00058790" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000254144" "00198" "00358885" "03566" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269669" "00198" "00374459" "00006" "Familial, autosomal recessive" "" "Global developmental delay and regression" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000269831" "00198" "00374621" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Aicardi-goutieres syndrome" "" "0000352225" "00745" "00466861" "04901" "Familial, autosomal recessive" "11y" "" "00y06m" "12y" "" "" "" "" "" "" "AGS4 (OMIM# 610333)" "Aicardi-Goutieres syndrome" "" "0000352226" "00745" "00466862" "04901" "Familial, autosomal recessive" "06y" "" "00y06m" "07y" "" "" "" "" "" "" "AGS4 (OMIM# 610333)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058703" "00058741" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-11-07 12:44:45" "SEQ" "DNA" "" "" "0000058704" "00058742" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-05-31 14:27:09" "SEQ" "DNA" "" "" "0000058705" "00058743" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-11-07 12:55:54" "SEQ" "DNA" "" "" "0000058706" "00058744" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-05-31 14:39:28" "SEQ" "DNA" "" "" "0000058707" "00058745" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-05-31 14:43:44" "SEQ" "DNA" "" "" "0000058708" "00058746" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-05-31 14:42:58" "SEQ" "DNA" "" "" "0000058709" "00058747" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-05-31 14:42:07" "SEQ" "DNA" "" "" "0000058710" "00058748" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-05-31 14:41:29" "SEQ" "DNA" "" "" "0000058711" "00058749" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-05-31 11:17:08" "SEQ" "DNA" "" "" "0000058712" "00058750" "1" "00006" "00006" "2011-03-22 14:38:13" "01537" "2012-05-31 14:15:16" "SEQ" "DNA" "" "" "0000058717" "00058755" "1" "01536" "01536" "2012-02-11 18:39:08" "01537" "2012-05-31 14:16:44" "SEQ" "DNA" "" "" "0000058718" "00058756" "1" "01536" "01536" "2012-02-13 11:31:49" "01537" "2012-05-31 11:13:40" "SEQ" "DNA" "" "" "0000058719" "00058757" "1" "01536" "01536" "2012-02-13 11:42:43" "01537" "2012-05-31 14:20:37" "SEQ" "DNA" "" "" "0000058720" "00058758" "1" "01536" "01536" "2012-02-13 11:54:38" "01537" "2012-05-31 14:16:11" "SEQ" "DNA" "" "" "0000058747" "00058785" "1" "00006" "00006" "2012-11-07 11:22:58" "01537" "2012-11-07 12:55:09" "SEQ" "DNA" "" "" "0000058748" "00058786" "1" "00006" "00006" "2012-11-07 11:39:25" "01537" "2012-11-07 12:55:34" "SEQ" "DNA" "" "" "0000058749" "00058787" "1" "00006" "00006" "2012-11-07 11:47:15" "01537" "2012-11-07 12:56:43" "SEQ" "DNA" "" "" "0000058750" "00058788" "1" "00006" "00006" "2012-11-07 11:54:58" "01537" "2012-11-07 12:56:48" "SEQ" "DNA" "" "" "0000058751" "00058789" "1" "00006" "00006" "2012-11-07 12:40:39" "01537" "2012-11-07 12:56:06" "SEQ" "DNA" "" "" "0000058752" "00058790" "1" "00006" "00006" "2012-11-07 12:51:52" "01537" "2012-11-07 12:56:17" "SEQ" "DNA" "" "" "0000293209" "00292041" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293210" "00292042" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305773" "00304644" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305774" "00304645" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000360118" "00358885" "1" "03566" "03566" "2021-03-17 07:22:52" "00006" "2023-12-01 12:39:32" "SEQ" "DNA" "" "" "0000375653" "00374459" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375815" "00374621" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000468525" "00466861" "1" "04901" "04901" "2025-09-24 21:55:11" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "WES" "0000468526" "00466862" "1" "04901" "04901" "2025-09-24 22:10:50" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000058703" "RNASEH2A" "0000058704" "RNASEH2A" "0000058705" "RNASEH2A" "0000058706" "RNASEH2A" "0000058707" "RNASEH2A" "0000058708" "RNASEH2A" "0000058709" "RNASEH2A" "0000058710" "RNASEH2A" "0000058711" "RNASEH2A" "0000058712" "RNASEH2A" "0000058717" "RNASEH2A" "0000058718" "RNASEH2A" "0000058719" "RNASEH2A" "0000058720" "RNASEH2A" "0000058747" "RNASEH2A" "0000058748" "RNASEH2A" "0000058749" "RNASEH2A" "0000058750" "RNASEH2A" "0000058751" "RNASEH2A" "0000058752" "RNASEH2A" "0000375653" "RNASEH2A" "0000375815" "RNASEH2A" ## 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 = 106 "{{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}}" "0000089303" "3" "90" "19" "12918026" "12918026" "dup" "0" "00006" "RNASEH2A_000002" "g.12918026dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12807212dup" "" "pathogenic" "" "0000089304" "3" "90" "19" "12918142" "12918142" "subst" "0" "00006" "RNASEH2A_000003" "g.12918142C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12807328C>T" "" "pathogenic" "" "0000089305" "3" "90" "19" "12921137" "12921137" "subst" "4.06062E-6" "00006" "RNASEH2A_000004" "g.12921137C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12810323C>T" "" "pathogenic" "" "0000089306" "3" "90" "19" "12923949" "12923949" "subst" "0" "00006" "RNASEH2A_000005" "g.12923949C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12813135C>A" "" "pathogenic" "" "0000089307" "3" "90" "19" "12923963" "12923963" "subst" "1.62656E-5" "00006" "RNASEH2A_000006" "g.12923963G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12813149G>A" "" "pathogenic" "" "0000089308" "3" "90" "19" "12923976" "12923976" "dup" "0" "00006" "RNASEH2A_000007" "g.12923976dup" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.12813162dupGC" "" "pathogenic" "" "0000089309" "3" "90" "19" "12923978" "12923978" "subst" "2.03383E-5" "00006" "RNASEH2A_000008" "g.12923978C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12813164C>T" "" "pathogenic" "" "0000089310" "3" "90" "19" "12924252" "12924252" "subst" "1.62678E-5" "00006" "RNASEH2A_000009" "g.12924252G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12813438G>A" "" "pathogenic" "" "0000089311" "3" "90" "19" "12917491" "12917491" "subst" "0" "00006" "RNASEH2A_000010" "g.12917491G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12806677G>T" "" "pathogenic" "" "0000089312" "3" "90" "19" "12917495" "12917495" "subst" "1.11498E-5" "00006" "RNASEH2A_000011" "g.12917495T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12806681T>C" "" "pathogenic" "" "0000089317" "11" "90" "19" "12917596" "12917596" "subst" "0" "01536" "RNASEH2A_000012" "g.12917596G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12806782G>A" "" "pathogenic" "" "0000089318" "1" "30" "19" "12921125" "12921125" "subst" "0.000146182" "01536" "RNASEH2A_000013" "g.12921125C>T" "" "" "" "" "heterozygous variant" "Unknown" "" "" "0" "" "" "g.12810311C>T" "" "likely benign" "" "0000089319" "21" "90" "19" "12918142" "12918142" "subst" "1.62431E-5" "01536" "RNASEH2A_000014" "g.12918142C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12807328C>G" "" "pathogenic" "" "0000089320" "1" "70" "19" "12917556" "12917556" "subst" "1.72555E-5" "01536" "RNASEH2A_000016" "g.12917556G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12806742G>A" "" "likely pathogenic" "" "0000089347" "0" "77" "19" "12917556" "12917556" "subst" "1.72555E-5" "00006" "RNASEH2A_000018" "g.12917556G>A" "" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "p.Val23Val (causes mis-splicing resulting in out-of-frame deletion at the end of exon 1 and a premature STOP codon; as per author\'s group member\'s communication)" "Unknown" "" "" "0" "" "" "g.12806742G>A" "" "likely pathogenic" "" "0000089348" "0" "50" "19" "12917556" "12917556" "subst" "1.72555E-5" "00006" "RNASEH2A_000016" "g.12917556G>A" "" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "p.Val23Val (causes mis-splicing resulting in out-of-frame deletion at the end of exon 1 and a premature STOP codon; as per author\'s group member\'s communication)" "Unknown" "" "" "0" "" "" "g.12806742G>A" "" "VUS" "" "0000089349" "3" "77" "19" "12917562" "12917562" "subst" "0" "00006" "RNASEH2A_000020" "g.12917562C>T" "" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "p.(Arg25Arg)(Causes mis-splicing resulting in in-frame 18-amino acid deletion; As per author\'s group member\'s communication)" "Unknown" "" "" "0" "" "" "g.12806748C>T" "" "likely pathogenic" "" "0000089350" "0" "50" "19" "12917562" "12917562" "subst" "0" "00006" "RNASEH2A_000020" "g.12917562C>T" "" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "p.(Arg25Arg)(Causes mis-splicing resulting in in-frame 18-amino acid deletion; As per author\'s group member\'s communication)" "Unknown" "" "" "0" "" "" "g.12806748C>T" "" "VUS" "" "0000089351" "0" "99" "19" "12921216" "12921216" "subst" "0.000223397" "00006" "RNASEH2A_000022" "g.12921216A>T" "" "{PMID:Coffin 2012:21454563}" "" "" "" "Unknown" "" "" "0" "" "" "g.12810402A>T" "" "pathogenic" "" "0000089352" "0" "77" "19" "12918026" "12918026" "dup" "0" "00006" "RNASEH2A_000002" "g.12918026dup" "" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "Compound heterozygous mutation with c.323G>A" "Unknown" "" "" "0" "" "" "g.12807212dup" "" "likely pathogenic" "" "0000089383" "21" "90" "19" "12917596" "12917596" "subst" "0" "01536" "RNASEH2A_000012" "g.12917596G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12806782G>A" "" "pathogenic" "" "0000089384" "11" "90" "19" "12921170" "12921170" "del" "0" "01536" "RNASEH2A_000015" "g.12921170del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12810356del" "" "pathogenic" "" "0000089385" "2" "90" "19" "12917615" "12917615" "subst" "0" "01536" "RNASEH2A_000017" "g.12917615G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12806801G>C" "" "pathogenic" "" "0000089404" "0" "77" "19" "12921216" "12921216" "subst" "0.000223397" "00006" "RNASEH2A_000019" "g.12921216A>T" "" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "Prof. YJ Crow, Univ Manchester, paper under review" "Unknown" "" "" "0" "" "" "g.12810402A>T" "" "likely pathogenic" "" "0000089405" "0" "50" "19" "12921137" "12921137" "subst" "4.06062E-6" "00006" "RNASEH2A_000004" "g.12921137C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12810323C>T" "" "VUS" "" "0000089406" "3" "77" "19" "12917562" "12917562" "subst" "0" "00006" "RNASEH2A_000020" "g.12917562C>T" "" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "p.(Arg25Arg)(Causes mis-splicing resulting in in-frame 18-amino acid deletion; As per author\'s group member\'s communication)" "Unknown" "" "" "0" "" "" "g.12806748C>T" "" "likely pathogenic" "" "0000089407" "0" "50" "19" "12923963" "12923963" "subst" "1.62656E-5" "00006" "RNASEH2A_000021" "g.12923963G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12813149G>A" "" "VUS" "" "0000089408" "0" "77" "19" "12918143" "12918143" "subst" "0" "00006" "RNASEH2A_000023" "g.12918143G>A" "" "Prof. YJ Crow, Univ Manchester, paper under review" "" "" "Compound heterozygous mutation with c.323G>A" "Unknown" "" "" "0" "" "" "g.12807329G>A" "" "likely pathogenic" "" "0000250692" "0" "10" "19" "12917520" "12917520" "subst" "0.0464024" "02326" "RNASEH2A_000025" "g.12917520A>G" "" "" "" "RNASEH2A(NM_006397.2):c.33A>G (p.T11=), RNASEH2A(NM_006397.3):c.33A>G (p.(Thr11=), p.T11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12806706A>G" "" "benign" "" "0000250804" "0" "30" "19" "12923921" "12923921" "subst" "0.0006459" "02326" "RNASEH2A_000035" "g.12923921A>G" "" "" "" "RNASEH2A(NM_006397.2):c.662A>G (p.K221R, p.(Lys221Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813107A>G" "" "likely benign" "" "0000253044" "0" "10" "19" "12917520" "12917520" "subst" "0.0464024" "01943" "RNASEH2A_000025" "g.12917520A>G" "" "" "" "RNASEH2A(NM_006397.2):c.33A>G (p.T11=), RNASEH2A(NM_006397.3):c.33A>G (p.(Thr11=), p.T11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12806706A>G" "" "benign" "" "0000254023" "0" "30" "19" "12923921" "12923921" "subst" "0.0006459" "01943" "RNASEH2A_000035" "g.12923921A>G" "" "" "" "RNASEH2A(NM_006397.2):c.662A>G (p.K221R, p.(Lys221Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813107A>G" "" "likely benign" "" "0000254594" "0" "30" "19" "12921174" "12921174" "subst" "8.1217E-6" "01943" "RNASEH2A_000031" "g.12921174A>G" "" "" "" "RNASEH2A(NM_006397.2):c.593A>G (p.K198R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12810360A>G" "" "likely benign" "" "0000297679" "0" "50" "19" "12924296" "12924296" "subst" "0.000332671" "02325" "RNASEH2A_000042" "g.12924296G>T" "" "" "" "RNASEH2A(NM_006397.3):c.*16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813482G>T" "" "VUS" "" "0000297680" "0" "30" "19" "12917906" "12917906" "subst" "3.68565E-5" "02325" "RNASEH2A_000026" "g.12917906T>G" "" "" "" "RNASEH2A(NM_006397.3):c.199+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12807092T>G" "" "likely benign" "" "0000307117" "0" "30" "19" "12917472" "12917472" "subst" "0.0288797" "01943" "RNASEH2A_000024" "g.12917472T>C" "" "" "" "RNASEH2A(NM_006397.2):c.-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12806658T>C" "" "likely benign" "" "0000307118" "0" "30" "19" "12918311" "12918311" "subst" "1.21825E-5" "01943" "RNASEH2A_000028" "g.12918311C>T" "" "" "" "RNASEH2A(NM_006397.2):c.402C>T (p.N134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12807497C>T" "" "likely benign" "" "0000307119" "0" "50" "19" "12920927" "12920927" "subst" "8.12117E-6" "01943" "RNASEH2A_000029" "g.12920927C>T" "" "" "" "RNASEH2A(NM_006397.2):c.454C>T (p.R152W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12810113C>T" "" "VUS" "" "0000307120" "0" "10" "19" "12920935" "12920935" "subst" "0.0469725" "01943" "RNASEH2A_000030" "g.12920935G>A" "" "" "" "RNASEH2A(NM_006397.2):c.462G>A (p.Q154=), RNASEH2A(NM_006397.3):c.462G>A (p.(Gln154=), p.Q154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12810121G>A" "" "benign" "" "0000307121" "0" "10" "19" "12921186" "12921186" "subst" "0.0469557" "01943" "RNASEH2A_000032" "g.12921186T>C" "" "" "" "RNASEH2A(NM_006397.2):c.605T>C (p.L202S), RNASEH2A(NM_006397.3):c.605T>C (p.(Leu202Ser), p.L202S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12810372T>C" "" "benign" "" "0000307122" "0" "10" "19" "12921231" "12921231" "subst" "0.0130442" "01943" "RNASEH2A_000033" "g.12921231G>A" "" "" "" "RNASEH2A(NM_006397.2):c.637+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12810417G>A" "" "benign" "" "0000307123" "0" "30" "19" "12923888" "12923888" "subst" "0.000105637" "01943" "RNASEH2A_000034" "g.12923888C>A" "" "" "" "RNASEH2A(NM_006397.2):c.638-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813074C>A" "" "likely benign" "" "0000307124" "0" "30" "19" "12923943" "12923943" "subst" "0.000211351" "01943" "RNASEH2A_000036" "g.12923943C>T" "" "" "" "RNASEH2A(NM_006397.2):c.684C>T (p.F228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813129C>T" "" "likely benign" "" "0000307125" "0" "50" "19" "12924005" "12924005" "subst" "5.2898E-5" "01943" "RNASEH2A_000037" "g.12924005C>T" "" "" "" "RNASEH2A(NM_006397.2):c.746C>T (p.A249V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813191C>T" "" "VUS" "" "0000307126" "0" "30" "19" "12924157" "12924157" "subst" "0.0293656" "01943" "RNASEH2A_000038" "g.12924157C>T" "" "" "" "RNASEH2A(NM_006397.2):c.777C>T (p.S259=), RNASEH2A(NM_006397.3):c.777C>T (p.S259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813343C>T" "" "likely benign" "" "0000307127" "0" "30" "19" "12924218" "12924218" "subst" "2.43716E-5" "01943" "RNASEH2A_000039" "g.12924218C>T" "" "" "" "RNASEH2A(NM_006397.2):c.838C>T (p.R280C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813404C>T" "" "likely benign" "" "0000307128" "0" "50" "19" "12924254" "12924254" "subst" "2.84694E-5" "01943" "RNASEH2A_000041" "g.12924254G>A" "" "" "" "RNASEH2A(NM_006397.2):c.874G>A (p.G292S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813440G>A" "" "VUS" "" "0000326224" "0" "50" "19" "12918112" "12918112" "subst" "6.09102E-5" "01804" "RNASEH2A_000027" "g.12918112C>G" "" "" "" "RNASEH2A(NM_006397.2):c.292C>G (p.(Pro98Ala)), RNASEH2A(NM_006397.3):c.292C>G (p.P98A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12807298C>G" "" "VUS" "" "0000326225" "0" "50" "19" "12924219" "12924219" "subst" "7.31101E-5" "01804" "RNASEH2A_000040" "g.12924219G>A" "" "" "" "RNASEH2A(NM_006397.2):c.839G>A (p.(Arg280His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12813405G>A" "" "VUS" "" "0000342134" "0" "70" "19" "12921138" "12921138" "subst" "4.06062E-6" "02327" "RNASEH2A_000043" "g.12921138G>A" "" "" "" "RNASEH2A(NM_006397.2):c.557G>A (p.R186Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12810324G>A" "" "likely pathogenic" "" "0000566123" "0" "30" "19" "12917523" "12917523" "subst" "0.000140695" "01943" "RNASEH2A_000044" "g.12917523C>T" "" "" "" "RNASEH2A(NM_006397.2):c.36C>T (p.G12=), RNASEH2A(NM_006397.3):c.36C>T (p.(Gly12=), p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12806709C>T" "" "likely benign" "" "0000566124" "0" "30" "19" "12917523" "12917523" "subst" "0.000140695" "02325" "RNASEH2A_000044" "g.12917523C>T" "" "" "" "RNASEH2A(NM_006397.2):c.36C>T (p.G12=), RNASEH2A(NM_006397.3):c.36C>T (p.(Gly12=), p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12806709C>T" "" "likely benign" "" "0000566126" "0" "70" "19" "12918026" "12918026" "dup" "0" "01943" "RNASEH2A_000002" "g.12918026dup" "" "" "" "RNASEH2A(NM_006397.2):c.206dupA (p.T70Dfs*50), RNASEH2A(NM_006397.3):c.206dupA (p.T70Dfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12807212dup" "" "likely pathogenic" "" "0000566127" "0" "50" "19" "12918112" "12918112" "subst" "6.09102E-5" "02325" "RNASEH2A_000027" "g.12918112C>G" "" "" "" "RNASEH2A(NM_006397.2):c.292C>G (p.(Pro98Ala)), RNASEH2A(NM_006397.3):c.292C>G (p.P98A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12807298C>G" "" "VUS" "" "0000566128" "0" "30" "19" "12918127" "12918127" "subst" "8.12123E-6" "01943" "RNASEH2A_000045" "g.12918127A>G" "" "" "" "RNASEH2A(NM_006397.2):c.307A>G (p.T103A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12807313A>G" "" "likely benign" "" "0000566129" "0" "30" "19" "12920926" "12920926" "subst" "6.90299E-5" "01943" "RNASEH2A_000046" "g.12920926G>A" "" "" "" "RNASEH2A(NM_006397.2):c.453G>A (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12810112G>A" "" "likely benign" "" "0000566130" "0" "10" "19" "12921120" "12921120" "subst" "0.0469541" "01943" "RNASEH2A_000047" "g.12921120T>C" "" "" "" "RNASEH2A(NM_006397.2):c.550-11T>C, RNASEH2A(NM_006397.3):c.550-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12810306T>C" "" "benign" "" "0000566132" "0" "50" "19" "12921196" "12921196" "subst" "0.0106648" "01943" "RNASEH2A_000048" "g.12921196T>A" "" "" "" "RNASEH2A(NM_006397.2):c.615T>A (p.D205E), RNASEH2A(NM_006397.3):c.615T>A (p.(Asp205Glu), p.D205E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12810382T>A" "" "VUS" "" "0000566133" "0" "10" "19" "12921196" "12921196" "subst" "0.0106648" "02326" "RNASEH2A_000048" "g.12921196T>A" "" "" "" "RNASEH2A(NM_006397.2):c.615T>A (p.D205E), RNASEH2A(NM_006397.3):c.615T>A (p.(Asp205Glu), p.D205E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12810382T>A" "" "benign" "" "0000566134" "0" "30" "19" "12923921" "12923921" "subst" "0.0006459" "01804" "RNASEH2A_000035" "g.12923921A>G" "" "" "" "RNASEH2A(NM_006397.2):c.662A>G (p.K221R, p.(Lys221Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12813107A>G" "" "likely benign" "" "0000617358" "0" "50" "19" "12917597" "12917597" "subst" "0" "01943" "RNASEH2A_000049" "g.12917597G>A" "" "" "" "RNASEH2A(NM_006397.2):c.110G>A (p.G37D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12806783G>A" "" "VUS" "" "0000649898" "1" "30" "19" "12921186" "12921186" "subst" "0.0469557" "03575" "RNASEH2A_000032" "g.12921186T>C" "143/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "143 heterozygous; {DB:CLININrs7247284}" "Germline" "" "rs7247284" "0" "" "" "g.12810372T>C" "" "likely benign" "" "0000649899" "1" "30" "19" "12924157" "12924157" "subst" "0.0293656" "03575" "RNASEH2A_000038" "g.12924157C>T" "116/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "116 heterozygous; {DB:CLININrs76634951}" "Germline" "" "rs76634951" "0" "" "" "g.12813343C>T" "" "likely benign" "" "0000658492" "0" "30" "19" "12917595" "12917595" "subst" "5.47717E-6" "01943" "RNASEH2A_000050" "g.12917595G>A" "" "" "" "RNASEH2A(NM_006397.2):c.108G>A (p.A36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12806781G>A" "" "likely benign" "" "0000669461" "3" "30" "19" "12921186" "12921186" "subst" "0.0469557" "03575" "RNASEH2A_000032" "g.12921186T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs7247284}" "Germline" "" "rs7247284" "0" "" "" "g.12810372T>C" "" "likely benign" "" "0000669462" "3" "30" "19" "12924157" "12924157" "subst" "0.0293656" "03575" "RNASEH2A_000038" "g.12924157C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs76634951}" "Germline" "" "rs76634951" "0" "" "" "g.12813343C>T" "" "likely benign" "" "0000681284" "0" "30" "19" "12918248" "12918248" "subst" "0.000357328" "02326" "RNASEH2A_000051" "g.12918248G>T" "" "" "" "RNASEH2A(NM_006397.2):c.339G>T (p.L113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681285" "0" "50" "19" "12918283" "12918283" "subst" "0.000113697" "01943" "RNASEH2A_000052" "g.12918283T>C" "" "" "" "RNASEH2A(NM_006397.2):c.374T>C (p.I125T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681286" "0" "30" "19" "12924008" "12924008" "subst" "0" "01943" "RNASEH2A_000053" "g.12924008A>C" "" "" "" "RNASEH2A(NM_006397.2):c.749A>C (p.E250A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692690" "0" "30" "19" "12918248" "12918248" "subst" "0.000357328" "01943" "RNASEH2A_000051" "g.12918248G>T" "" "" "" "RNASEH2A(NM_006397.2):c.339G>T (p.L113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692691" "0" "50" "19" "12924252" "12924252" "subst" "1.62678E-5" "01943" "RNASEH2A_000009" "g.12924252G>A" "" "" "" "RNASEH2A(NM_006397.2):c.872G>A (p.R291H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727131" "0" "30" "19" "12917902" "12917902" "subst" "9.34762E-5" "01943" "RNASEH2A_000054" "g.12917902G>C" "" "" "" "RNASEH2A(NM_006397.2):c.199+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727132" "0" "50" "19" "12918019" "12918024" "del" "0" "01943" "RNASEH2A_000055" "g.12918019_12918024del" "" "" "" "RNASEH2A(NM_006397.2):c.200-3_202delCAGACT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727133" "0" "70" "19" "12918026" "12918026" "dup" "0" "02329" "RNASEH2A_000002" "g.12918026dup" "" "" "" "RNASEH2A(NM_006397.2):c.206dupA (p.T70Dfs*50), RNASEH2A(NM_006397.3):c.206dupA (p.T70Dfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727134" "0" "30" "19" "12918311" "12918311" "subst" "1.21825E-5" "02326" "RNASEH2A_000028" "g.12918311C>T" "" "" "" "RNASEH2A(NM_006397.2):c.402C>T (p.N134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727135" "0" "70" "19" "12921138" "12921138" "subst" "4.06062E-6" "01943" "RNASEH2A_000043" "g.12921138G>A" "" "" "" "RNASEH2A(NM_006397.2):c.557G>A (p.R186Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727136" "0" "90" "19" "12924157" "12924157" "del" "0" "01943" "RNASEH2A_000056" "g.12924157del" "" "" "" "RNASEH2A(NM_006397.2):c.777delC (p.E260Rfs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000759816" "0" "90" "19" "12918022" "12918022" "subst" "0" "03566" "RNASEH2A_000057" "g.12918022T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.12807208T>G" "" "pathogenic" "" "0000787004" "3" "70" "19" "12918142" "12918142" "subst" "0" "00006" "RNASEH2A_000003" "g.12918142C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.12807328C>T" "" "likely pathogenic" "" "0000787166" "3" "50" "19" "12917852" "12917852" "subst" "0" "00006" "RNASEH2A_000058" "g.12917852C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.12807038C>G" "" "VUS" "" "0000808680" "0" "30" "19" "12923912" "12923912" "subst" "2.03127E-5" "01943" "RNASEH2A_000059" "g.12923912C>T" "" "" "" "RNASEH2A(NM_006397.2):c.653C>T (p.A218V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894788" "0" "30" "19" "12924017" "12924017" "subst" "0.000146399" "02326" "RNASEH2A_000060" "g.12924017T>C" "" "" "" "RNASEH2A(NM_006397.2):c.758T>C (p.I253T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915129" "0" "10" "19" "12917520" "12917520" "subst" "0.0464024" "02329" "RNASEH2A_000025" "g.12917520A>G" "" "" "" "RNASEH2A(NM_006397.2):c.33A>G (p.T11=), RNASEH2A(NM_006397.3):c.33A>G (p.(Thr11=), p.T11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915130" "0" "10" "19" "12920935" "12920935" "subst" "0.0469725" "02329" "RNASEH2A_000030" "g.12920935G>A" "" "" "" "RNASEH2A(NM_006397.2):c.462G>A (p.Q154=), RNASEH2A(NM_006397.3):c.462G>A (p.(Gln154=), p.Q154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915131" "0" "50" "19" "12921015" "12921015" "subst" "2.84257E-5" "02325" "RNASEH2A_000061" "g.12921015G>A" "" "" "" "RNASEH2A(NM_006397.3):c.542G>A (p.C181Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915132" "0" "10" "19" "12921120" "12921120" "subst" "0.0469541" "02329" "RNASEH2A_000047" "g.12921120T>C" "" "" "" "RNASEH2A(NM_006397.2):c.550-11T>C, RNASEH2A(NM_006397.3):c.550-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915133" "0" "10" "19" "12921186" "12921186" "subst" "0.0469557" "02329" "RNASEH2A_000032" "g.12921186T>C" "" "" "" "RNASEH2A(NM_006397.2):c.605T>C (p.L202S), RNASEH2A(NM_006397.3):c.605T>C (p.(Leu202Ser), p.L202S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915134" "0" "10" "19" "12921196" "12921196" "subst" "0.0106648" "02329" "RNASEH2A_000048" "g.12921196T>A" "" "" "" "RNASEH2A(NM_006397.2):c.615T>A (p.D205E), RNASEH2A(NM_006397.3):c.615T>A (p.(Asp205Glu), p.D205E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931000" "0" "30" "19" "12918301" "12918301" "subst" "0" "02326" "RNASEH2A_000062" "g.12918301A>G" "" "" "" "RNASEH2A(NM_006397.2):c.392A>G (p.Q131R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931001" "0" "30" "19" "12920949" "12920949" "subst" "0" "02326" "RNASEH2A_000063" "g.12920949G>A" "" "" "" "RNASEH2A(NM_006397.2):c.476G>A (p.G159E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931002" "0" "10" "19" "12924157" "12924157" "subst" "0.0293656" "02329" "RNASEH2A_000038" "g.12924157C>T" "" "" "" "RNASEH2A(NM_006397.2):c.777C>T (p.S259=), RNASEH2A(NM_006397.3):c.777C>T (p.S259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983209" "0" "50" "19" "12918052" "12918052" "subst" "0" "01804" "RNASEH2A_000064" "g.12918052A>G" "" "" "" "RNASEH2A(NM_006397.3):c.232A>G (p.(Arg78Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983210" "0" "50" "19" "12921167" "12921167" "subst" "4.06081E-6" "01804" "RNASEH2A_000065" "g.12921167G>A" "" "" "" "RNASEH2A(NM_006397.3):c.586G>A (p.(Val196Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983211" "0" "50" "19" "12921216" "12921216" "subst" "8.12354E-5" "01804" "RNASEH2A_000066" "g.12921216A>G" "" "" "" "RNASEH2A(NM_006397.3):c.635A>G (p.(Asn212Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983212" "0" "50" "19" "12923974" "12923974" "subst" "0.000105766" "01804" "RNASEH2A_000067" "g.12923974C>T" "" "" "" "RNASEH2A(NM_006397.3):c.715C>T (p.(Arg239Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004361" "0" "70" "19" "12917597" "12917597" "subst" "0" "02326" "RNASEH2A_000049" "g.12917597G>A" "" "" "" "RNASEH2A(NM_006397.2):c.110G>A (p.G37D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042623" "0" "10" "19" "12917520" "12917520" "subst" "0.0464024" "01804" "RNASEH2A_000025" "g.12917520A>G" "" "" "" "RNASEH2A(NM_006397.2):c.33A>G (p.T11=), RNASEH2A(NM_006397.3):c.33A>G (p.(Thr11=), p.T11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042624" "0" "50" "19" "12917523" "12917523" "subst" "0.000140695" "01804" "RNASEH2A_000044" "g.12917523C>T" "" "" "" "RNASEH2A(NM_006397.2):c.36C>T (p.G12=), RNASEH2A(NM_006397.3):c.36C>T (p.(Gly12=), p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042625" "0" "10" "19" "12920935" "12920935" "subst" "0.0469725" "01804" "RNASEH2A_000030" "g.12920935G>A" "" "" "" "RNASEH2A(NM_006397.2):c.462G>A (p.Q154=), RNASEH2A(NM_006397.3):c.462G>A (p.(Gln154=), p.Q154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042626" "0" "50" "19" "12921149" "12921149" "subst" "7.71561E-5" "01804" "RNASEH2A_000068" "g.12921149G>A" "" "" "" "RNASEH2A(NM_006397.3):c.568G>A (p.(Val190Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042627" "0" "10" "19" "12921186" "12921186" "subst" "0.0469557" "01804" "RNASEH2A_000032" "g.12921186T>C" "" "" "" "RNASEH2A(NM_006397.2):c.605T>C (p.L202S), RNASEH2A(NM_006397.3):c.605T>C (p.(Leu202Ser), p.L202S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042628" "0" "10" "19" "12921196" "12921196" "subst" "0.0106648" "01804" "RNASEH2A_000048" "g.12921196T>A" "" "" "" "RNASEH2A(NM_006397.2):c.615T>A (p.D205E), RNASEH2A(NM_006397.3):c.615T>A (p.(Asp205Glu), p.D205E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001048372" "10" "70" "19" "12917892" "12917892" "subst" "0.000125932" "04901" "RNASEH2A_000070" "g.12917892A>T" "" "" "" "" "variant absent from the in-house exome data of 400 unrelated, ethnically matched individuals." "Germline" "yes" "" "0" "" "" "g.12807078A>T" "" "likely pathogenic (recessive)" "ACMG" "0001048373" "21" "90" "19" "12924236" "12924236" "subst" "0" "04901" "RNASEH2A_000069" "g.12924236C>T" "" "" "" "" "variant absent from the in-house exome data of 400 unrelated, ethnically matched individuals." "Germline" "yes" "" "0" "" "" "g.12813422C>T" "" "pathogenic (recessive)" "ACMG" "0001048374" "10" "70" "19" "12917892" "12917892" "subst" "0.000125932" "04901" "RNASEH2A_000070" "g.12917892A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACGS" "0001048375" "21" "90" "19" "12924236" "12924236" "subst" "0" "04901" "RNASEH2A_000069" "g.12924236C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.12813422C>T" "" "pathogenic (recessive)" "ACMG" ## 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 RNASEH2A ## Count = 106 "{{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}}" "0000089303" "00017848" "90" "206" "0" "206" "0" "c.206dup" "r.(?)" "p.(Thr70Aspfs*50)" "3" "0000089304" "00017848" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Trp)" "6" "0000089305" "00017848" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "7" "0000089306" "00017848" "90" "690" "0" "690" "0" "c.690C>A" "r.(?)" "p.(Phe230Leu)" "7" "0000089307" "00017848" "90" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "7" "0000089308" "00017848" "90" "717" "0" "717" "0" "c.717dupGC" "r.(?)" "p.(Thr240Hisfs*36)" "7" "0000089309" "00017848" "90" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Met)" "8" "0000089310" "00017848" "90" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291His)" "1" "0000089311" "00017848" "90" "4" "0" "4" "0" "c.4G>T" "r.(?)" "p.(Asp2Tyr)" "1" "0000089312" "00017848" "90" "8" "0" "8" "0" "c.8T>C" "r.(?)" "p.(Leu3Pro)" "1" "0000089317" "00017848" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Ser)" "1" "0000089318" "00017848" "30" "550" "-6" "550" "-6" "c.550-6C>T" "r.(?)" "p.(=)" "5i" "0000089319" "00017848" "90" "322" "0" "322" "0" "c.322C>G" "r.(?)" "p.(Arg108Gly)" "3" "0000089320" "00017848" "70" "69" "0" "69" "0" "c.69G>A" "r.spl?" "p.(=)" "1" "0000089347" "00017848" "77" "69" "0" "69" "0" "c.69G>A" "r.spl?" "p.(=)" "1" "0000089348" "00017848" "50" "69" "0" "69" "0" "c.69G>A" "r.spl?" "p.(=)" "1" "0000089349" "00017848" "77" "75" "0" "75" "0" "c.75C>T" "r.spl?" "p.(=)" "1" "0000089350" "00017848" "50" "75" "0" "75" "0" "c.75C>T" "r.spl?" "p.(=)" "1" "0000089351" "00017848" "99" "635" "0" "635" "0" "c.635A>T" "r.(?)" "p.(Asn212Ile)" "6" "0000089352" "00017848" "77" "206" "0" "206" "0" "c.206dup" "r.(?)" "p.(Thr70Aspfs*50)" "3" "0000089383" "00017848" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Ser)" "1" "0000089384" "00017848" "90" "589" "0" "589" "0" "c.589del" "r.(?)" "p.(Glu197Argfs*24)" "6" "0000089385" "00017848" "90" "127" "1" "127" "1" "c.127+1G>C" "r.spl?" "p.?" "1i" "0000089404" "00017848" "77" "635" "0" "635" "0" "c.635A>T" "r.(?)" "p.(Asn212Ile)" "6" "0000089405" "00017848" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "6" "0000089406" "00017848" "77" "75" "0" "75" "0" "c.75C>T" "r.spl?" "p.(=)" "1" "0000089407" "00017848" "50" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "7" "0000089408" "00017848" "77" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108Gln)" "3" "0000250692" "00017848" "10" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Thr11=)" "" "0000250804" "00017848" "30" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Lys221Arg)" "" "0000253044" "00017848" "10" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Thr11=)" "" "0000254023" "00017848" "30" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Lys221Arg)" "" "0000254594" "00017848" "30" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0000297679" "00017848" "50" "916" "0" "916" "0" "c.*16G>T" "r.(=)" "p.(=)" "" "0000297680" "00017848" "30" "199" "13" "199" "13" "c.199+13T>G" "r.(=)" "p.(=)" "" "0000307117" "00017848" "30" "-16" "0" "-16" "0" "c.-16T>C" "r.(?)" "p.(=)" "" "0000307118" "00017848" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Asn134=)" "" "0000307119" "00017848" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Trp)" "" "0000307120" "00017848" "10" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Gln154=)" "" "0000307121" "00017848" "10" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Leu202Ser)" "" "0000307122" "00017848" "10" "637" "13" "637" "13" "c.637+13G>A" "r.(=)" "p.(=)" "" "0000307123" "00017848" "30" "638" "-9" "638" "-9" "c.638-9C>A" "r.(=)" "p.(=)" "" "0000307124" "00017848" "30" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(Phe228=)" "" "0000307125" "00017848" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Ala249Val)" "" "0000307126" "00017848" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Ser259=)" "" "0000307127" "00017848" "30" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280Cys)" "" "0000307128" "00017848" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Gly292Ser)" "" "0000326224" "00017848" "50" "292" "0" "292" "0" "c.292C>G" "r.(?)" "p.(Pro98Ala)" "" "0000326225" "00017848" "50" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280His)" "" "0000342134" "00017848" "70" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "" "0000566123" "00017848" "30" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Gly12=)" "" "0000566124" "00017848" "30" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Gly12=)" "" "0000566126" "00017848" "70" "206" "0" "206" "0" "c.206dup" "r.(?)" "p.(Thr70AspfsTer50)" "" "0000566127" "00017848" "50" "292" "0" "292" "0" "c.292C>G" "r.(?)" "p.(Pro98Ala)" "" "0000566128" "00017848" "30" "307" "0" "307" "0" "c.307A>G" "r.(?)" "p.(Thr103Ala)" "" "0000566129" "00017848" "30" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Ala151=)" "" "0000566130" "00017848" "10" "550" "-11" "550" "-11" "c.550-11T>C" "r.(=)" "p.(=)" "" "0000566132" "00017848" "50" "615" "0" "615" "0" "c.615T>A" "r.(?)" "p.(Asp205Glu)" "" "0000566133" "00017848" "10" "615" "0" "615" "0" "c.615T>A" "r.(?)" "p.(Asp205Glu)" "" "0000566134" "00017848" "30" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Lys221Arg)" "" "0000617358" "00017848" "50" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Gly37Asp)" "" "0000649898" "00017848" "30" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Leu202Ser)" "" "0000649899" "00017848" "30" "777" "0" "777" "0" "c.777C>T" "r.(=)" "p.(=)" "" "0000658492" "00017848" "30" "108" "0" "108" "0" "c.108G>A" "r.(?)" "p.(Ala36=)" "" "0000669461" "00017848" "30" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Leu202Ser)" "" "0000669462" "00017848" "30" "777" "0" "777" "0" "c.777C>T" "r.(=)" "p.(=)" "" "0000681284" "00017848" "30" "339" "0" "339" "0" "c.339G>T" "r.(?)" "p.(Leu113=)" "" "0000681285" "00017848" "50" "374" "0" "374" "0" "c.374T>C" "r.(?)" "p.(Ile125Thr)" "" "0000681286" "00017848" "30" "749" "0" "749" "0" "c.749A>C" "r.(?)" "p.(Glu250Ala)" "" "0000692690" "00017848" "30" "339" "0" "339" "0" "c.339G>T" "r.(?)" "p.(Leu113=)" "" "0000692691" "00017848" "50" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291His)" "" "0000727131" "00017848" "30" "199" "9" "199" "9" "c.199+9G>C" "r.(=)" "p.(=)" "" "0000727132" "00017848" "50" "200" "-1" "204" "0" "c.200-1_204del" "r.spl?" "p.?" "" "0000727133" "00017848" "70" "206" "0" "206" "0" "c.206dup" "r.(?)" "p.(Thr70AspfsTer50)" "" "0000727134" "00017848" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Asn134=)" "" "0000727135" "00017848" "70" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "" "0000727136" "00017848" "90" "777" "0" "777" "0" "c.777del" "r.(?)" "p.(Glu260Argfs*56)" "" "0000759816" "00017848" "90" "202" "0" "202" "0" "c.202T>G" "r.(?)" "p.(Ser68Ala)" "" "0000787004" "00017848" "70" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Trp)" "3" "0000787166" "00017848" "50" "158" "0" "158" "0" "c.158C>G" "r.(?)" "p.(Pro53Arg)" "2" "0000808680" "00017848" "30" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ala218Val)" "" "0000894788" "00017848" "30" "758" "0" "758" "0" "c.758T>C" "r.(?)" "p.(Ile253Thr)" "" "0000915129" "00017848" "10" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Thr11=)" "" "0000915130" "00017848" "10" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Gln154=)" "" "0000915131" "00017848" "50" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Cys181Tyr)" "" "0000915132" "00017848" "10" "550" "-11" "550" "-11" "c.550-11T>C" "r.(=)" "p.(=)" "" "0000915133" "00017848" "10" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Leu202Ser)" "" "0000915134" "00017848" "10" "615" "0" "615" "0" "c.615T>A" "r.(?)" "p.(Asp205Glu)" "" "0000931000" "00017848" "30" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Gln131Arg)" "" "0000931001" "00017848" "30" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Gly159Glu)" "" "0000931002" "00017848" "10" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Ser259=)" "" "0000983209" "00017848" "50" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Arg78Gly)" "" "0000983210" "00017848" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Val196Met)" "" "0000983211" "00017848" "50" "635" "0" "635" "0" "c.635A>G" "r.(?)" "p.(Asn212Ser)" "" "0000983212" "00017848" "50" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "" "0001004361" "00017848" "70" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Gly37Asp)" "" "0001042623" "00017848" "10" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Thr11=)" "" "0001042624" "00017848" "50" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Gly12=)" "" "0001042625" "00017848" "10" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Gln154=)" "" "0001042626" "00017848" "50" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Met)" "" "0001042627" "00017848" "10" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Leu202Ser)" "" "0001042628" "00017848" "10" "615" "0" "615" "0" "c.615T>A" "r.(?)" "p.(Asp205Glu)" "" "0001048372" "00017848" "70" "198" "0" "198" "0" "c.198A>T" "r.spl" "p.?" "" "0001048373" "00017848" "90" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Ter)" "" "0001048374" "00017848" "70" "198" "0" "198" "0" "c.198A>T" "r.spl" "p.?" "" "0001048375" "00017848" "90" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{variantid}}" "0000058703" "0000089303" "0000058704" "0000089304" "0000058705" "0000089305" "0000058706" "0000089306" "0000058707" "0000089307" "0000058708" "0000089308" "0000058709" "0000089309" "0000058710" "0000089310" "0000058711" "0000089311" "0000058712" "0000089312" "0000058717" "0000089317" "0000058717" "0000089383" "0000058718" "0000089318" "0000058719" "0000089319" "0000058719" "0000089384" "0000058720" "0000089320" "0000058720" "0000089385" "0000058747" "0000089347" "0000058747" "0000089404" "0000058748" "0000089348" "0000058748" "0000089405" "0000058749" "0000089349" "0000058749" "0000089406" "0000058750" "0000089350" "0000058750" "0000089407" "0000058751" "0000089351" "0000058752" "0000089352" "0000058752" "0000089408" "0000293209" "0000649898" "0000293210" "0000649899" "0000305773" "0000669461" "0000305774" "0000669462" "0000360118" "0000759816" "0000375653" "0000787004" "0000375815" "0000787166" "0000468525" "0001048372" "0000468525" "0001048373" "0000468526" "0001048374" "0000468526" "0001048375"