### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNASEH2C) # 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}}" "RNASEH2C" "ribonuclease H2, subunit C" "11" "q13.1" "unknown" "NG_008976.2" "UD_132118637134" "" "http://www.LOVD.nl/RNASEH2C" "" "1" "24116" "84153" "610330" "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/RNASEH2C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-02-18 00:00:00" "00006" "2016-02-04 02:16:50" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017851" "RNASEH2C" "ribonuclease H2, subunit C" "001" "NM_032193.3" "" "NP_115569.2" "" "" "" "-180" "2605" "495" "65488409" "65485144" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00961" "AGS3" "Aicardi-Goutieres syndrome, type 3 (AGS3)" "AR" "610329" "" "" "" "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" "" "" "05376" "NDMSCA" "neurodevelopmental disorder with microcephaly, seizures, cortical atrophy (NDMSCA)" "AR" "617802" "" "autosomal recessive" "" "00006" "2018-01-12 17:39:18" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RNASEH2C" "00139" "RNASEH2C" "00961" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00058730" "" "" "" "1" "" "00006" "{PMID16845400:Crow 2006}" "" "" "" "" "" "0" "" "" "" "" "00058731" "" "" "" "1" "" "00006" "{PMID16845400:Crow 2006}" "" "" "" "" "" "0" "" "" "" "" "00058732" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058733" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058734" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058735" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058736" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058737" "" "" "" "1" "" "00006" "{PMID17846997:Rice 2007}" "" "" "" "" "" "0" "" "" "" "" "00058738" "" "" "" "1" "" "00006" "{PMID 20131292:Ramantani 2010}" "" "" "" "" "" "0" "" "" "" "" "00058739" "" "" "" "1" "" "00006" "{PMID 20131292:Ramantani 2010}" "" "" "" "" "" "0" "" "" "" "" "00058740" "" "" "" "1" "" "00006" "{PMID 20131292:Ramantani 2010}" "" "" "" "" "" "0" "" "" "" "" "00058759" "" "" "" "3" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058760" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058761" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058762" "" "" "" "2" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058763" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058764" "" "" "" "2" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058765" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058766" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00058804" "" "" "" "2" "" "00006" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "?" "" "" "0" "" "" "Turkish" "" "00058805" "" "" "" "1" "" "00006" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "" "" "00248824" "" "" "" "2" "" "00006" "{PMID:Hebbar 2018:29150899}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "Fam1" "00248825" "" "" "" "2" "" "00006" "{PMID:Hebbar 2018:29150899}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "Fam2" "00248826" "" "" "" "2" "" "00006" "{PMID:Hebbar 2018:29150899}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "Fam3" "00308028" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Germany" "" "0" "" "" "" "Pat7" "00358884" "" "" "" "1" "" "03566" "" "" "" "" "" "" "" "" "" "" "RNASEH2C" "00361906" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00374456" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1987" "00374457" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4256" "00374458" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2825" "00387766" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Baloch" "M8500033" "00419540" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20024" "00419541" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20177" "00455857" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat97" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 35 "{{individualid}}" "{{diseaseid}}" "00058730" "05129" "00058731" "05129" "00058732" "05129" "00058733" "05129" "00058734" "05129" "00058735" "05129" "00058736" "05129" "00058737" "05129" "00058738" "05129" "00058739" "05129" "00058740" "05129" "00058759" "05129" "00058760" "05129" "00058761" "05129" "00058762" "05129" "00058763" "05129" "00058764" "05129" "00058765" "05129" "00058766" "05129" "00058804" "05129" "00058805" "05129" "00248824" "05129" "00248825" "05129" "00248826" "05129" "00308028" "00198" "00358884" "00198" "00361906" "05129" "00361906" "05376" "00374456" "00198" "00374457" "00198" "00374458" "00198" "00387766" "00139" "00419540" "00198" "00419541" "00198" "00455857" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00961, 05129, 05376 ## Count = 35 "{{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}}" "0000045321" "05129" "00058730" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045322" "05129" "00058731" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045323" "05129" "00058732" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045324" "05129" "00058733" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045325" "05129" "00058734" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045326" "05129" "00058735" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045327" "05129" "00058736" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045328" "05129" "00058737" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045329" "05129" "00058738" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045330" "05129" "00058739" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045331" "05129" "00058740" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045350" "05129" "00058759" "01536" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045351" "05129" "00058760" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045352" "05129" "00058761" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045353" "05129" "00058762" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045354" "05129" "00058763" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045355" "05129" "00058764" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045356" "05129" "00058765" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045357" "05129" "00058766" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045395" "05129" "00058804" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045396" "05129" "00058805" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187792" "05129" "00248824" "00006" "Familial, autosomal recessive" "" "see paper; …, intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, elevated interferon-α levels" "" "" "" "" "" "" "" "" "AGS-3" "Aicardi-Goutieres syndrome" "" "0000187793" "05129" "00248825" "00006" "Familial, autosomal recessive" "" "see paper; …, intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, elevated interferon-α levels" "" "" "" "" "" "" "" "" "AGS-3" "Aicardi-Goutieres syndrome" "" "0000187794" "05129" "00248826" "00006" "Familial, autosomal recessive" "" "see paper; …, intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, elevated interferon-α levels" "" "" "" "" "" "" "" "" "AGS-3" "Aicardi-Goutieres syndrome" "" "0000233454" "00198" "00308028" "00006" "Familial, autosomal recessive" "" "severe global developmental delay, regression, movement disorder, myelinization disorder" "" "" "" "" "" "" "" "" "AGS3" "developmental delay" "" "0000254143" "00198" "00358884" "03566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000257302" "05376" "00361906" "03219" "Familial, autosomal recessive" "" "Global developmental delay, seizures, spasticity, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000257303" "05129" "00361906" "03219" "Familial, autosomal recessive" "" "T2W focal hyperintensities suggestive of calcifications on MRI" "" "" "" "" "" "" "" "" "" "" "" "0000269666" "00198" "00374456" "00006" "Familial, autosomal recessive" "" "Developmental delay, microcephaly, seizures and CT scan revealed diffuse calcification" "" "" "" "" "" "" "" "" "" "Aicardi-goutieres syndrome" "" "0000269667" "00198" "00374457" "00006" "Familial, autosomal recessive" "" "Neurodevelopmental delay, seizures, strabismus, hypotonia, microcephaly, hypomyelination, spasticity, flat faces and visual impairment" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000269668" "00198" "00374458" "00006" "Familial, autosomal recessive" "" "Calcification, glaucoma and white matter signal changes" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000281334" "00139" "00387766" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000310821" "00198" "00419540" "02300" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000310822" "00198" "00419541" "02300" "Familial, autosomal recessive" "2m" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000344390" "00198" "00455857" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "AGS3" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058692" "00058730" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:02:29" "SEQ" "DNA" "" "" "0000058693" "00058731" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:05:52" "SEQ" "DNA" "" "" "0000058694" "00058732" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 15:38:49" "SEQ" "DNA" "" "" "0000058695" "00058733" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:03:51" "SEQ" "DNA" "" "" "0000058696" "00058734" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:08:41" "SEQ" "DNA" "" "" "0000058697" "00058735" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:12:18" "SEQ" "DNA" "" "" "0000058698" "00058736" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:06:47" "SEQ" "DNA" "" "" "0000058699" "00058737" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:00:54" "SEQ" "DNA" "" "" "0000058700" "00058738" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:04:58" "SEQ" "DNA" "" "" "0000058701" "00058739" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:21:35" "SEQ" "DNA" "" "" "0000058702" "00058740" "1" "00006" "00006" "2011-03-22 14:24:04" "01537" "2012-05-31 17:04:58" "SEQ" "DNA" "" "" "0000058721" "00058759" "1" "01536" "01536" "2012-03-30 19:55:36" "01537" "2012-05-31 15:48:58" "SEQ" "DNA" "" "" "0000058722" "00058760" "1" "01536" "01536" "2012-03-30 20:19:06" "01537" "2012-05-31 15:42:22" "SEQ" "DNA" "" "" "0000058723" "00058761" "1" "01536" "01536" "2012-04-02 14:33:04" "01537" "2012-05-31 15:46:30" "SEQ" "DNA" "" "" "0000058724" "00058762" "1" "01536" "01536" "2012-04-02 15:01:30" "01537" "2012-05-31 15:51:59" "SEQ" "DNA" "" "" "0000058725" "00058763" "1" "01536" "01536" "2012-04-02 15:40:40" "01537" "2012-05-31 15:45:48" "SEQ" "DNA" "" "" "0000058726" "00058764" "1" "01536" "01536" "2012-04-02 15:57:50" "01537" "2012-05-31 15:42:22" "SEQ" "DNA" "" "" "0000058727" "00058765" "1" "01536" "01536" "2012-04-02 16:13:44" "01537" "2012-05-31 15:47:09" "SEQ" "DNA" "" "" "0000058728" "00058766" "1" "01536" "01536" "2012-04-02 16:32:43" "01537" "2012-05-31 15:42:22" "SEQ" "DNA" "" "" "0000058766" "00058804" "1" "00006" "00006" "2012-11-30 16:21:29" "01537" "2012-11-30 16:25:53" "SEQ" "DNA" "" "" "0000058767" "00058805" "1" "00006" "00006" "2012-11-30 16:25:13" "01537" "2012-11-30 16:25:45" "SEQ" "DNA" "" "" "0000249926" "00248824" "1" "00006" "00006" "2019-07-28 13:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249927" "00248825" "1" "00006" "00006" "2019-07-28 13:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249928" "00248826" "1" "00006" "00006" "2019-07-28 13:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000309172" "00308028" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360117" "00358884" "1" "03566" "03566" "2021-03-17 07:21:06" "00006" "2023-12-01 12:39:32" "SEQ" "DNA" "" "" "0000363134" "00361906" "1" "03219" "03219" "2021-04-12 07:06:51" "" "" "SEQ-NG" "DNA" "" "" "0000375650" "00374456" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375651" "00374457" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375652" "00374458" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000388997" "00387766" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000420844" "00419540" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420845" "00419541" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457473" "00455857" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{geneid}}" "0000058692" "RNASEH2C" "0000058693" "RNASEH2C" "0000058694" "RNASEH2C" "0000058695" "RNASEH2C" "0000058696" "RNASEH2C" "0000058697" "RNASEH2C" "0000058698" "RNASEH2C" "0000058699" "RNASEH2C" "0000058700" "RNASEH2C" "0000058701" "RNASEH2C" "0000058702" "RNASEH2C" "0000058721" "RNASEH2C" "0000058722" "RNASEH2C" "0000058723" "RNASEH2C" "0000058724" "RNASEH2C" "0000058725" "RNASEH2C" "0000058726" "RNASEH2C" "0000058727" "RNASEH2C" "0000058728" "RNASEH2C" "0000058766" "RNASEH2C" "0000058767" "RNASEH2C" "0000249926" "RNASEH2C" "0000249927" "RNASEH2C" "0000249928" "RNASEH2C" "0000309172" "RNASEH2C" "0000375650" "RNASEH2C" "0000375651" "RNASEH2C" "0000375652" "RNASEH2C" "0000388997" "RNASEH2C" ## 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 = 81 "{{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}}" "0000089292" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000001" "g.65487856G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000089293" "3" "90" "11" "65487556" "65487556" "subst" "8.12466E-6" "00006" "RNASEH2C_000002" "g.65487556T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720085T>A" "" "pathogenic" "" "0000089294" "3" "90" "11" "65488192" "65488192" "subst" "0" "00006" "RNASEH2C_000003" "g.65488192C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720721C>T" "" "pathogenic" "" "0000089295" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000004" "g.65487856G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000089296" "3" "90" "11" "65487834" "65487834" "subst" "8.12301E-6" "00006" "RNASEH2C_000005" "g.65487834G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720363G>A" "" "pathogenic" "" "0000089297" "3" "90" "11" "65487572" "65487572" "subst" "0" "00006" "RNASEH2C_000006" "g.65487572G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720101G>A" "" "pathogenic" "" "0000089298" "3" "90" "11" "65487556" "65487556" "subst" "8.12466E-6" "00006" "RNASEH2C_000007" "g.65487556T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720085T>A" "" "pathogenic" "" "0000089299" "3" "90" "11" "65487533" "65487533" "subst" "0" "00006" "RNASEH2C_000008" "g.65487533G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720062G>A" "" "pathogenic" "" "0000089300" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000009" "g.65487856G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000089301" "0" "90" "11" "0" "0" "" "0" "00006" "RNASEH2C_000010" "g.?" "" "" "" "" "compound heterozygous with c343_344delGA" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000089302" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000011" "g.65487856G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000089321" "11" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "01536" "RNASEH2C_000001" "g.65487856G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000089322" "10" "90" "11" "65488192" "65488192" "subst" "0" "01536" "RNASEH2C_000012" "g.65488192C>T" "" "" "" "" "heterozygous RNASEH2B variant c.925dupA also present" "Unknown" "" "" "0" "" "" "g.65720721C>T" "" "pathogenic" "" "0000089323" "1" "30" "11" "65487502" "65487502" "subst" "5.30807E-5" "01536" "RNASEH2C_000013" "g.65487502C>A" "" "" "" "" "heterozygous variant" "Unknown" "" "" "0" "" "" "g.65720031C>A" "" "likely benign" "" "0000089324" "1" "30" "11" "65487796" "65487798" "del" "0" "01536" "RNASEH2C_000014" "g.65487796_65487798del" "" "" "" "" "heterozygous variant" "Unknown" "" "" "0" "" "" "g.65720325_65720327del" "" "likely benign" "" "0000089325" "11" "70" "11" "65488132" "65488132" "subst" "0" "01536" "RNASEH2C_000015" "g.65488132G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720661G>C" "" "likely pathogenic" "" "0000089326" "1" "90" "11" "65488192" "65488192" "subst" "0" "01536" "RNASEH2C_000012" "g.65488192C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720721C>T" "" "pathogenic" "" "0000089327" "11" "90" "11" "65488115" "65488115" "subst" "1.12095E-5" "01536" "RNASEH2C_000016" "g.65488115C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720644C>A" "" "pathogenic" "" "0000089328" "1" "90" "11" "65488192" "65488192" "subst" "0" "01536" "RNASEH2C_000012" "g.65488192C>T" "" "" "" "" "heterozygous RNASEH2B variant c.925dupA also present" "Unknown" "" "" "0" "" "" "g.65720721C>T" "" "pathogenic" "" "0000089366" "10" "77" "11" "65487865" "65487865" "subst" "0" "00006" "RNASEH2C_000019" "g.65487865G>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.65720394G>A" "" "likely pathogenic" "" "0000089367" "10" "77" "11" "65487583" "65487583" "subst" "0" "00006" "RNASEH2C_000020" "g.65487583A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720112A>G" "" "likely pathogenic" "" "0000089386" "21" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "01536" "RNASEH2C_000001" "g.65487856G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000089387" "20" "90" "11" "65488192" "65488192" "subst" "0" "01536" "RNASEH2C_000012" "g.65488192C>T" "" "" "" "" "heterozygous RNASEH2B variant c.925dupA also present" "Unknown" "" "" "0" "" "" "g.65720721C>T" "" "pathogenic" "" "0000089388" "21" "70" "11" "65487533" "65487533" "subst" "0" "01536" "RNASEH2C_000008" "g.65487533G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720062G>A" "" "likely pathogenic" "" "0000089389" "2" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "01536" "RNASEH2C_000001" "g.65487856G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000089390" "21" "90" "11" "65487889" "65487889" "subst" "0" "01536" "RNASEH2C_000017" "g.65487889C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720418C>G" "" "pathogenic" "" "0000089391" "2" "70" "11" "65487266" "65487266" "dup" "0" "01536" "RNASEH2C_000018" "g.65487266dup" "" "" "" "" "heterozygous RNASEH2B variant c.925dupA also present" "Unknown" "" "" "0" "" "" "g.65719795dup" "" "likely pathogenic" "" "0000089418" "20" "77" "11" "65487583" "65487583" "subst" "0" "00006" "RNASEH2C_000020" "g.65487583A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.65720112A>G" "" "likely pathogenic" "" "0000252205" "0" "30" "11" "65487285" "65487285" "subst" "4.0621E-6" "02326" "RNASEH2C_000021" "g.65487285A>G" "" "" "" "RNASEH2C(NM_032193.3):c.469-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65719814A>G" "" "likely benign" "" "0000254235" "0" "30" "11" "65488169" "65488169" "subst" "0.00229615" "01943" "RNASEH2C_000028" "g.65488169A>G" "" "" "" "RNASEH2C(NM_032193.3):c.61T>C (p.L21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720698A>G" "" "likely benign" "" "0000297684" "0" "30" "11" "65488239" "65488239" "subst" "0.00279327" "02325" "RNASEH2C_000029" "g.65488239T>C" "" "" "" "RNASEH2C(NM_032193.3):c.-10A>G, RNASEH2C(NM_032193.4):c.-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720768T>C" "" "likely benign" "" "0000297685" "0" "30" "11" "65487567" "65487567" "subst" "0.00249411" "02325" "RNASEH2C_000023" "g.65487567G>C" "" "" "" "RNASEH2C(NM_032193.3):c.417C>G (p.G139=), RNASEH2C(NM_032193.4):c.417C>G (p.G139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720096G>C" "" "likely benign" "" "0000297686" "0" "30" "11" "65487516" "65487516" "subst" "0.00252614" "02325" "RNASEH2C_000022" "g.65487516C>A" "" "" "" "RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720045C>A" "" "likely benign" "" "0000301471" "0" "30" "11" "65487903" "65487903" "subst" "0" "02326" "RNASEH2C_000027" "g.65487903G>A" "" "" "" "RNASEH2C(NM_032193.3):c.173-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720432G>A" "" "likely benign" "" "0000301472" "0" "30" "11" "65487516" "65487516" "subst" "0.00252614" "02326" "RNASEH2C_000022" "g.65487516C>A" "" "" "" "RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720045C>A" "" "likely benign" "" "0000307137" "0" "30" "11" "65488239" "65488239" "subst" "0.00279327" "01943" "RNASEH2C_000029" "g.65488239T>C" "" "" "" "RNASEH2C(NM_032193.3):c.-10A>G, RNASEH2C(NM_032193.4):c.-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720768T>C" "" "likely benign" "" "0000307138" "0" "30" "11" "65487883" "65487883" "subst" "2.03457E-5" "01943" "RNASEH2C_000026" "g.65487883C>T" "" "" "" "RNASEH2C(NM_032193.3):c.178G>A (p.E60K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720412C>T" "" "likely benign" "" "0000307139" "0" "50" "11" "65487769" "65487769" "subst" "2.84243E-5" "01943" "RNASEH2C_000025" "g.65487769G>C" "" "" "" "RNASEH2C(NM_032193.3):c.292C>G (p.P98A), RNASEH2C(NM_032193.4):c.292C>G (p.P98A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720298G>C" "" "VUS" "" "0000307140" "0" "30" "11" "65487626" "65487626" "subst" "4.87357E-5" "01943" "RNASEH2C_000024" "g.65487626T>C" "" "" "" "RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720155T>C" "" "likely benign" "" "0000307141" "0" "30" "11" "65487567" "65487567" "subst" "0.00249411" "01943" "RNASEH2C_000023" "g.65487567G>C" "" "" "" "RNASEH2C(NM_032193.3):c.417C>G (p.G139=), RNASEH2C(NM_032193.4):c.417C>G (p.G139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720096G>C" "" "likely benign" "" "0000307142" "0" "30" "11" "65487516" "65487516" "subst" "0.00252614" "01943" "RNASEH2C_000022" "g.65487516C>A" "" "" "" "RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720045C>A" "" "likely benign" "" "0000545008" "0" "30" "11" "65487503" "65487503" "subst" "0.00324217" "01943" "KAT5_000001" "g.65487503C>T" "" "" "" "RNASEH2C(NM_032193.3):c.468+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720032C>T" "" "likely benign" "" "0000545009" "0" "30" "11" "65487503" "65487503" "subst" "0.00324217" "02326" "KAT5_000001" "g.65487503C>T" "" "" "" "RNASEH2C(NM_032193.3):c.468+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720032C>T" "" "likely benign" "" "0000545010" "0" "30" "11" "65487516" "65487516" "subst" "0.00252614" "01804" "RNASEH2C_000022" "g.65487516C>A" "" "" "" "RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720045C>A" "" "likely benign" "" "0000545011" "0" "30" "11" "65487755" "65487755" "subst" "8.12123E-6" "01943" "KAT5_000002" "g.65487755G>A" "" "" "" "RNASEH2C(NM_032193.3):c.306C>T (p.S102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720284G>A" "" "likely benign" "" "0000545012" "0" "50" "11" "65487796" "65487798" "del" "0" "01943" "RNASEH2C_000014" "g.65487796_65487798del" "" "" "" "RNASEH2C(NM_032193.3):c.268_270delAAG (p.K90del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720325_65720327del" "" "VUS" "" "0000545013" "0" "10" "11" "65487796" "65487798" "del" "0" "02326" "RNASEH2C_000014" "g.65487796_65487798del" "" "" "" "RNASEH2C(NM_032193.3):c.268_270delAAG (p.K90del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720325_65720327del" "" "benign" "" "0000545014" "0" "50" "11" "65488142" "65488142" "subst" "0" "01943" "KAT5_000003" "g.65488142G>A" "" "" "" "RNASEH2C(NM_032193.3):c.88C>T (p.H30Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720671G>A" "" "VUS" "" "0000545015" "0" "50" "11" "65488180" "65488180" "subst" "0" "02325" "KAT5_000004" "g.65488180C>G" "" "" "" "RNASEH2C(NM_032193.4):c.50G>C (p.R17P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720709C>G" "" "VUS" "" "0000578998" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000001" "g.65487856G>A" "" "{PMID:Hebbar 2018:29150899}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65720385G>A" "" "pathogenic (recessive)" "" "0000578999" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000001" "g.65487856G>A" "" "{PMID:Hebbar 2018:29150899}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65720385G>A" "" "pathogenic (recessive)" "" "0000579000" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000001" "g.65487856G>A" "" "{PMID:Hebbar 2018:29150899}" "" "" "" "Germline" "yes" "" "0" "" "" "g.65720385G>A" "" "pathogenic (recessive)" "" "0000613559" "0" "50" "11" "65487511" "65487511" "subst" "2.44614E-5" "01943" "KAT5_000006" "g.65487511C>T" "" "" "" "RNASEH2C(NM_032193.3):c.468+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720040C>T" "" "VUS" "" "0000622677" "0" "30" "11" "65487508" "65487508" "subst" "3.26286E-5" "01943" "KAT5_000005" "g.65487508C>G" "" "" "" "RNASEH2C(NM_032193.3):c.468+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720037C>G" "" "likely benign" "" "0000656854" "0" "30" "11" "65488161" "65488161" "subst" "3.61982E-5" "02326" "KAT5_000007" "g.65488161G>A" "" "" "" "RNASEH2C(NM_032193.3):c.69C>T (p.D23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720690G>A" "" "likely benign" "" "0000679271" "0" "30" "11" "65488101" "65488101" "subst" "5.07485E-5" "01943" "KAT5_000008" "g.65488101C>T" "" "" "" "RNASEH2C(NM_032193.3):c.129G>A (p.P43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683672" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000001" "g.65487856G>A" "" "{PMID:Mahler 2019:31056085}" "" "205G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000759815" "0" "90" "11" "65487859" "65487859" "subst" "0" "03566" "RNASEH2C_000030" "g.65487859G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.65720388G>C" "" "pathogenic" "ACMG" "0000763571" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "03219" "RNASEH2C_000001" "g.65487856G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000787001" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000001" "g.65487856G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000787002" "0" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000001" "g.65487856G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000787003" "3" "90" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000001" "g.65487856G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.65720385G>A" "" "pathogenic" "" "0000805271" "0" "50" "11" "65487737" "65487739" "del" "0" "01943" "KAT5_000012" "g.65487737_65487739del" "" "" "" "RNASEH2C(NM_032193.3):c.328_330delGAG (p.E110del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805272" "0" "30" "11" "65487826" "65487826" "subst" "0" "01943" "KAT5_000013" "g.65487826G>C" "" "" "" "RNASEH2C(NM_032193.3):c.235C>G (p.L79V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805273" "0" "30" "11" "65488199" "65488199" "subst" "0" "01943" "KAT5_000014" "g.65488199T>C" "" "" "" "RNASEH2C(NM_032193.3):c.31A>G (p.R11G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817790" "3" "70" "11" "65487856" "65487856" "subst" "9.34488E-5" "00006" "RNASEH2C_000001" "g.65487856G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.65720385G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881203" "3" "70" "11" "65487572" "65487572" "subst" "0" "02300" "RNASEH2C_000006" "g.65487572G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "rs77834781" "0" "" "" "g.65720101G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881204" "3" "70" "11" "65487572" "65487572" "subst" "0" "02300" "RNASEH2C_000006" "g.65487572G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "rs77834781" "0" "" "" "g.65720101G>A" "" "likely pathogenic (recessive)" "ACMG" "0000890077" "0" "30" "11" "65487626" "65487626" "subst" "4.87357E-5" "02326" "RNASEH2C_000024" "g.65487626T>C" "" "" "" "RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890078" "0" "50" "11" "65487769" "65487769" "subst" "0.000125879" "02329" "KAT5_000015" "g.65487769G>A" "" "" "" "RNASEH2C(NM_032193.4):c.292C>T (p.P98S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890079" "0" "50" "11" "65487769" "65487769" "subst" "2.84243E-5" "02329" "RNASEH2C_000025" "g.65487769G>C" "" "" "" "RNASEH2C(NM_032193.3):c.292C>G (p.P98A), RNASEH2C(NM_032193.4):c.292C>G (p.P98A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949761" "0" "30" "11" "65487508" "65487508" "subst" "2.44714E-5" "02326" "KAT5_000016" "g.65487508C>T" "" "" "" "RNASEH2C(NM_032193.3):c.468+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966497" "0" "50" "11" "65480876" "65480876" "subst" "1.21869E-5" "02325" "KAT5_000017" "g.65480876C>T" "" "" "" "KAT5(NM_006388.4):c.343C>T (p.R115C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979753" "0" "50" "11" "65487626" "65487626" "subst" "4.87357E-5" "01804" "RNASEH2C_000024" "g.65487626T>C" "" "" "" "RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979754" "0" "50" "11" "65487707" "65487707" "subst" "7.30923E-5" "01804" "KAT5_000018" "g.65487707G>A" "" "" "" "RNASEH2C(NM_032193.3):c.348+6C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999278" "0" "30" "11" "65479730" "65479730" "subst" "0" "01804" "KAT5_000019" "g.65479730G>A" "" "" "" "KAT5(NM_182710.2):c.-9G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999279" "0" "50" "11" "65480840" "65480840" "subst" "1.21932E-5" "02325" "KAT5_000021" "g.65480840G>A" "" "" "" "KAT5(NM_006388.4):c.307G>A (p.G103R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999280" "0" "50" "11" "65480970" "65480970" "subst" "4.0626E-6" "01804" "KAT5_000022" "g.65480970C>T" "" "" "" "KAT5(NM_182710.2):c.536C>T (p.(Ser179Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999281" "0" "30" "11" "65484225" "65484225" "subst" "3.65456E-5" "01804" "KAT5_000023" "g.65484225G>A" "" "" "" "KAT5(NM_182710.2):c.1117G>A (p.(Val373Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011976" "1" "90" "11" "65487534" "65487534" "subst" "0" "00006" "RNASEH2C_000031" "g.65487534C>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.65720063C>A" "SUB7803432" "pathogenic (recessive)" "" "0001038602" "0" "30" "11" "65477813" "65477813" "subst" "0" "01804" "KAT5_000024" "g.65477813C>T" "" "" "" "KAT5(NM_182710.3):c.-1926C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RNASEH2C ## Count = 81 "{{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}}" "0000089292" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "2" "0000089293" "00017851" "90" "428" "0" "428" "0" "c.428A>T" "r.(?)" "p.(Lys143Ile)" "3" "0000089294" "00017851" "90" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "2" "0000089295" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "2" "0000089296" "00017851" "90" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Pro76Leu)" "3" "0000089297" "00017851" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Pro138Ser)" "3" "0000089298" "00017851" "90" "428" "0" "428" "0" "c.428A>T" "r.(?)" "p.(Lys143Ile)" "3" "0000089299" "00017851" "90" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Pro151Ser)" "2" "0000089300" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "0000089301" "00017851" "90" "115" "0" "115" "0" "c.115G>T+c.343_344delGA" "r.(?)" "p.(Asp39Tyr)+p.(Asp115Leufs*55)" "2" "0000089302" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "3" "0000089321" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "2" "0000089322" "00017851" "90" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "1" "0000089323" "00017851" "30" "468" "14" "468" "14" "c.468+14G>T" "r.(?)" "p.(=)" "3i" "0000089324" "00017851" "30" "268" "0" "270" "0" "c.268_270del" "r.(?)" "p.(Lys90del)" "2" "0000089325" "00017851" "70" "98" "0" "98" "0" "c.98C>G" "r.(?)" "p.(Pro33Arg)" "1" "0000089326" "00017851" "90" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "1" "0000089327" "00017851" "90" "115" "0" "115" "0" "c.115G>T" "r.(?)" "p.(Asp39Tyr)" "1" "0000089328" "00017851" "90" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "1" "0000089366" "00017851" "77" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Cys)" "2" "0000089367" "00017851" "77" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Leu134Pro)" "3" "0000089386" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "2" "0000089387" "00017851" "90" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "1" "0000089388" "00017851" "70" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Pro151Ser)" "3" "0000089389" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "2" "0000089390" "00017851" "90" "173" "-1" "173" "-1" "c.173-1G>C" "r.spl?" "p.?" "1i" "0000089391" "00017851" "70" "483" "0" "483" "0" "c.483dup" "r.(?)" "p.(Pro162Alafs*9)" "4" "0000089418" "00017851" "77" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Leu134Pro)" "3" "0000252205" "00017851" "30" "469" "-5" "469" "-5" "c.469-5T>C" "r.spl?" "p.?" "" "0000254235" "00017851" "30" "61" "0" "61" "0" "c.61T>C" "r.(?)" "p.(Leu21=)" "" "0000297684" "00017851" "30" "-10" "0" "-10" "0" "c.-10A>G" "r.(?)" "p.(=)" "" "0000297685" "00017851" "30" "417" "0" "417" "0" "c.417C>G" "r.(?)" "p.(Gly139=)" "" "0000297686" "00017851" "30" "468" "0" "468" "0" "c.468G>T" "r.(?)" "p.(Ala156=)" "" "0000301471" "00017851" "30" "173" "-15" "173" "-15" "c.173-15C>T" "r.(=)" "p.(=)" "" "0000301472" "00017851" "30" "468" "0" "468" "0" "c.468G>T" "r.(?)" "p.(Ala156=)" "" "0000307137" "00017851" "30" "-10" "0" "-10" "0" "c.-10A>G" "r.(?)" "p.(=)" "" "0000307138" "00017851" "30" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Glu60Lys)" "" "0000307139" "00017851" "50" "292" "0" "292" "0" "c.292C>G" "r.(?)" "p.(Pro98Ala)" "" "0000307140" "00017851" "30" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Ile120Val)" "" "0000307141" "00017851" "30" "417" "0" "417" "0" "c.417C>G" "r.(?)" "p.(Gly139=)" "" "0000307142" "00017851" "30" "468" "0" "468" "0" "c.468G>T" "r.(?)" "p.(Ala156=)" "" "0000545008" "00017851" "30" "468" "13" "468" "13" "c.468+13G>A" "r.(=)" "p.(=)" "" "0000545009" "00017851" "30" "468" "13" "468" "13" "c.468+13G>A" "r.(=)" "p.(=)" "" "0000545010" "00017851" "30" "468" "0" "468" "0" "c.468G>T" "r.(?)" "p.(Ala156=)" "" "0000545011" "00017851" "30" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Ser102=)" "" "0000545012" "00017851" "50" "268" "0" "270" "0" "c.268_270del" "r.(?)" "p.(Lys90del)" "" "0000545013" "00017851" "10" "268" "0" "270" "0" "c.268_270del" "r.(?)" "p.(Lys90del)" "" "0000545014" "00017851" "50" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(His30Tyr)" "" "0000545015" "00017851" "50" "50" "0" "50" "0" "c.50G>C" "r.(?)" "p.(Arg17Pro)" "" "0000578998" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "0000578999" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "0000579000" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "0000613559" "00017851" "50" "468" "5" "468" "5" "c.468+5G>A" "r.spl?" "p.?" "" "0000622677" "00017851" "30" "468" "8" "468" "8" "c.468+8G>C" "r.(=)" "p.(=)" "" "0000656854" "00017851" "30" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(Asp23=)" "" "0000679271" "00017851" "30" "129" "0" "129" "0" "c.129G>A" "r.(?)" "p.(Pro43=)" "" "0000683672" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "0000759815" "00017851" "90" "202" "0" "202" "0" "c.202C>G" "r.(?)" "p.(Leu68Val)" "" "0000763571" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "0000787001" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "2" "0000787002" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "2" "0000787003" "00017851" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "2" "0000805271" "00017851" "50" "328" "0" "330" "0" "c.328_330del" "r.(?)" "p.(Glu110del)" "" "0000805272" "00017851" "30" "235" "0" "235" "0" "c.235C>G" "r.(?)" "p.(Leu79Val)" "" "0000805273" "00017851" "30" "31" "0" "31" "0" "c.31A>G" "r.(?)" "p.(Arg11Gly)" "" "0000817790" "00017851" "70" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "0000881203" "00017851" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Pro138Ser)" "" "0000881204" "00017851" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Pro138Ser)" "" "0000890077" "00017851" "30" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Ile120Val)" "" "0000890078" "00017851" "50" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Pro98Ser)" "" "0000890079" "00017851" "50" "292" "0" "292" "0" "c.292C>G" "r.(?)" "p.(Pro98Ala)" "" "0000949761" "00017851" "30" "468" "8" "468" "8" "c.468+8G>A" "r.(=)" "p.(=)" "" "0000966497" "00017851" "50" "6873" "0" "6873" "0" "c.*6378G>A" "r.(=)" "p.(=)" "" "0000979753" "00017851" "50" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Ile120Val)" "" "0000979754" "00017851" "50" "348" "6" "348" "6" "c.348+6C>T" "r.(=)" "p.(=)" "" "0000999278" "00017851" "30" "8019" "0" "8019" "0" "c.*7524C>T" "r.(=)" "p.(=)" "" "0000999279" "00017851" "50" "6909" "0" "6909" "0" "c.*6414C>T" "r.(=)" "p.(=)" "" "0000999280" "00017851" "50" "6779" "0" "6779" "0" "c.*6284G>A" "r.(=)" "p.(=)" "" "0000999281" "00017851" "30" "3524" "0" "3524" "0" "c.*3029C>T" "r.(=)" "p.(=)" "" "0001011976" "00017851" "90" "450" "0" "450" "0" "c.450G>T" "r.(?)" "p.(Trp150Cys)" "" "0001038602" "00017851" "30" "9936" "0" "9936" "0" "c.*9441G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000058692" "0000089292" "0000058693" "0000089293" "0000058694" "0000089294" "0000058695" "0000089295" "0000058696" "0000089296" "0000058697" "0000089297" "0000058698" "0000089298" "0000058699" "0000089299" "0000058700" "0000089300" "0000058701" "0000089301" "0000058702" "0000089302" "0000058721" "0000089321" "0000058721" "0000089386" "0000058722" "0000089322" "0000058722" "0000089387" "0000058723" "0000089323" "0000058724" "0000089324" "0000058725" "0000089325" "0000058725" "0000089388" "0000058726" "0000089326" "0000058726" "0000089389" "0000058727" "0000089327" "0000058727" "0000089390" "0000058728" "0000089328" "0000058728" "0000089391" "0000058766" "0000089366" "0000058767" "0000089367" "0000058767" "0000089418" "0000249926" "0000578998" "0000249927" "0000578999" "0000249928" "0000579000" "0000309172" "0000683672" "0000360117" "0000759815" "0000363134" "0000763571" "0000375650" "0000787001" "0000375651" "0000787002" "0000375652" "0000787003" "0000388997" "0000817790" "0000420844" "0000881203" "0000420845" "0000881204" "0000457473" "0001011976"