### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POLR1A) # 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}}" "POLR1A" "polymerase (RNA) I polypeptide A, 194kDa" "2" "p11.2" "unknown" "NC_000002.11" "UD_132464923957" "" "https://www.LOVD.nl/POLR1A" "" "1" "17264" "25885" "616404" "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/POLR1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-05-05 17:23:15" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016496" "POLR1A" "polymerase (RNA) I polypeptide A, 194kDa" "001" "NM_015425.3" "" "NP_056240.2" "" "" "" "-379" "6258" "5163" "86333278" "86253451" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04620" "AFDCIN" "dysostosis, acrofacial, Cincinnati type (AFDCIN)" "AD" "616462" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "POLR1A" "04620" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00080690" "" "" "" "1" "" "01749" "" "" "M" "yes" "Turkey" "" "0" "" "" "Anatolian" "" "00435067" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 2 affected brothers, unaffected non-carrier mother" "M" "" "" "3m" "0" "" "" "" "FamPat1" "00435068" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "brother" "M" "" "" "" "0" "" "" "" "FamPat2" "00435069" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Australia" "56d" "0" "" "" "" "Pat3" "00435070" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, affected mother/son" "M" "" "United States" "" "0" "" "" "" "FamPat4" "00435071" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "mother" "F" "" "" "" "0" "" "" "" "FamPat5" "00435072" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, affected mother/daughter" "F" "" "" "" "0" "" "" "" "FamPat6" "00435073" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "mother" "F" "" "" "" "0" "" "" "" "FamPat7" "00435074" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "2y" "0" "" "" "" "Pat8" "00435075" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, carrier father/paternal grandfather" "M" "" "" "" "0" "" "" "" "Pat9" "00435076" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, unaffected carrier father" "F" "" "" "" "0" "" "" "" "Pat10" "00435077" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "" "Pat11" "00435078" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Pat12" "00435079" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat13" "00435080" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat14" "00435081" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat15" "00435082" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat16" "00435083" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 2 affected brothers, unaffected non-carrier mother" "F" "" "United States" "" "0" "" "" "" "Pat17" "00435084" "" "" "" "1" "" "00006" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "2-generation family, 2 affected brothers, unaffected non-carrier mother" "F" "" "United States" "" "0" "" "" "" "Pat18" "00435085" "" "" "" "1" "" "00006" "{PMID:Weaver 2015:25913037}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "white" "Pat1A1" "00435086" "" "" "" "1" "" "00006" "{PMID:Weaver 2015:25913037}" "2-generation family, 1 affected, unaffected carrier father" "F" "" "Brazil" "" "0" "" "" "" "Pat1A2" "00435087" "" "" "" "1" "" "00006" "{PMID:Weaver 2015:25913037}" "" "M" "" "Germany" "" "0" "" "" "" "Pat1A3" "00435088" "" "" "" "1" "" "00006" "{PMID:Shenoy 2022:34714179}" "3-generation family, 1 affected, unaffected non-carrier parents" "F" "" "India" "" "0" "" "" "" "Pat7III3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00080690" "00198" "00435067" "00198" "00435068" "00198" "00435069" "00198" "00435070" "00198" "00435071" "00198" "00435072" "00198" "00435073" "00198" "00435074" "00198" "00435075" "00198" "00435076" "00198" "00435077" "00198" "00435078" "00198" "00435079" "00198" "00435080" "00198" "00435081" "00198" "00435082" "00198" "00435083" "00198" "00435084" "00198" "00435085" "00198" "00435086" "00198" "00435087" "00198" "00435088" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04620 ## Count = 23 "{{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}}" "0000060254" "00198" "00080690" "01749" "Familial, autosomal recessive" "" "ataxia, cerebellar and cerebral atrophy, psychomotor retardation and leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000325305" "00198" "00435067" "00006" "Unknown" "3m" "see paper; ..., 3m-deceased; cleft lip/palate; craniosynostosis; no hypertelorism; no micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; no abnormal muscle tone; father bitemporal narrowing, prominent metopic ridge" "" "" "" "" "" "" "" "" "" "" "" "0000325306" "00198" "00435068" "00006" "Unknown" "5y" "see paper; ..., cleft lip/palate; craniosynostosis; no hypertelorism; no micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; no abnormal muscle tone; father bitemporal narrowing, prominent metopic ridge" "" "" "" "" "" "" "" "" "" "" "" "0000325307" "00198" "00435069" "00006" "Isolated (sporadic)" "56d" "see paper; ..., 56d-deceased; no cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325308" "00198" "00435070" "00006" "Unknown" "18m" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; congenital heart disease; developmental delay; no infantile spasms/epilepsy; no limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325309" "00198" "00435071" "00006" "Unknown" "" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325310" "00198" "00435072" "00006" "Unknown" "10y" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; no abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325311" "00198" "00435073" "00006" "Unknown" "44y" "see paper; ..., cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; no abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325312" "00198" "00435074" "00006" "Isolated (sporadic)" "2y" "see paper; ..., 2y-deceased; cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; congenital heart disease; developmental delay; infantile spasms/epilepsy; limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325313" "00198" "00435075" "00006" "Unknown" "4y" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; no congenital heart disease; no developmental delay; infantile spasms/epilepsy; no limb defects; no abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325314" "00198" "00435076" "00006" "Unknown" "7y" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; congenital heart disease; developmental delay; no infantile spasms/epilepsy; limb defects" "" "" "" "" "" "" "" "" "" "" "" "0000325315" "00198" "00435077" "00006" "Isolated (sporadic)" "11y" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; no congenital heart disease; developmental delay; no infantile spasms/epilepsy; no limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325316" "00198" "00435078" "00006" "Unknown" "4y3m" "see paper; ..., no cleft lip/palate; no craniosynostosis; no hypertelorism; no micrognathia; congenital heart disease; developmental delay; no infantile spasms/epilepsy; limb defects; no abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325317" "00198" "00435079" "00006" "Isolated (sporadic)" "24y" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; no congenital heart disease; developmental delay; infantile spasms/epilepsy; limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325318" "00198" "00435080" "00006" "Isolated (sporadic)" "6m" "see paper; ..., no cleft lip/palate; craniosynostosis; hypertelorism; micrognathia; no congenital heart disease; developmental delay; infantile spasms/epilepsy; no limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325319" "00198" "00435081" "00006" "Isolated (sporadic)" "5y" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; congenital heart disease; developmental delay; infantile spasms/epilepsy; limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325320" "00198" "00435082" "00006" "Isolated (sporadic)" "3y" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; no congenital heart disease; developmental delay; infantile spasms/epilepsy; no limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325321" "00198" "00435083" "00006" "Unknown" "7y" "see paper; ..., no cleft lip/palate; no craniosynostosis; no hypertelorism; micrognathia; congenital heart disease; developmental delay; no limb defects" "" "" "" "" "" "" "" "" "" "" "" "0000325322" "00198" "00435084" "00006" "Unknown" "16y" "see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; congenital heart disease; developmental delay; limb defects; abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000325323" "00198" "00435085" "00006" "Isolated (sporadic)" "03y" "see paper; ..., ablepharon, absent zygoma, bilateral anotia, cleft palate, underdeveloped maxilla, micrognathia (severe); bowed femora, flared metaphyses (lower extremities), dysplastic acetabulae, delayed ossification of epiphyses; normal development, mild communication delay; short stature" "" "" "" "" "" "" "" "" "AFDCIN" "cranioskeletal malformation syndrome" "" "0000325324" "00198" "00435086" "00006" "Unknown" "06y" "see paper; ..., bilateral choanal atresia, upper and lower eyelid clefts, microcephaly; normal limbs; 6y-normal development; patent ductus arteriosus; father down-slanting palpebral fissures, mild malar hypoplasia" "" "" "" "" "" "" "" "" "AFDCIN" "cranioskeletal malformation syndrome" "" "0000325325" "00198" "00435087" "00006" "Unknown" "52y" "see paper; ..., down-slanting palpebral fissures, malar flattening, unilateral microtia, micrognathia (mild); short, broad fingers/toes; 5y-normal development" "" "" "" "" "" "" "" "" "AFDCIN" "cranioskeletal malformation syndrome" "" "0000325326" "00198" "00435088" "00006" "Isolated (sporadic)" "" "see paper; ..., birth preterm, weight 1250 g; advanced parental age; down slanted palpebral fissures; lower eyelid coloboma; normal ears; normal hearing; ectropion, dacrostenosis; limbs normal" "" "" "" "" "" "" "" "" "AFDCIN" "mandibulofacial dysostosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080783" "00080690" "1" "01749" "01749" "2016-09-03 19:13:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436538" "00435067" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436539" "00435068" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436540" "00435069" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436541" "00435070" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436542" "00435071" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436543" "00435072" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436544" "00435073" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436545" "00435074" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436546" "00435075" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436547" "00435076" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436548" "00435077" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436549" "00435078" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436550" "00435079" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436551" "00435080" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436552" "00435081" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436553" "00435082" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436554" "00435083" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436555" "00435084" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436556" "00435085" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436557" "00435086" "1" "00006" "00006" "2023-05-05 19:15:22" "00006" "2023-05-05 19:29:59" "SEQ" "DNA" "" "" "0000436558" "00435087" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436559" "00435088" "1" "00006" "00006" "2023-05-05 19:15:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000436557" "POLR1A" ## 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 = 94 "{{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}}" "0000129746" "3" "70" "2" "86272825" "86272825" "subst" "0" "01749" "POLR1A_000001" "g.86272825G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.86045702G>A" "" "likely pathogenic" "" "0000306131" "0" "30" "2" "86292464" "86292464" "subst" "0.000223448" "01943" "POLR1A_000008" "g.86292464T>C" "" "" "" "POLR1A(NM_015425.5):c.1991A>G (p.K664R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86065341T>C" "" "likely benign" "" "0000306132" "0" "50" "2" "86292453" "86292453" "subst" "0.000125981" "01943" "POLR1A_000007" "g.86292453C>T" "" "" "" "POLR1A(NM_015425.3):c.2002G>A (p.(Val668Met)), POLR1A(NM_015425.5):c.2002G>A (p.V668M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86065330C>T" "" "VUS" "" "0000327145" "0" "50" "2" "86255012" "86255012" "subst" "0" "01804" "POLR1A_000002" "g.86255012C>A" "" "" "" "POLR1A(NM_015425.3):c.5058G>T (p.(Met1686Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86027889C>A" "" "VUS" "" "0000327147" "0" "50" "2" "86266531" "86266531" "subst" "2.03059E-5" "01804" "POLR1A_000004" "g.86266531G>T" "" "" "" "POLR1A(NM_015425.3):c.3795C>A (p.(Ser1265Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86039408G>T" "" "VUS" "" "0000327148" "0" "50" "2" "86269171" "86269171" "subst" "4.06105E-6" "01804" "POLR1A_000005" "g.86269171T>G" "" "" "" "POLR1A(NM_015425.3):c.3413A>C (p.(Lys1138Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86042048T>G" "" "VUS" "" "0000327149" "0" "50" "2" "86269172" "86269172" "subst" "4.06108E-6" "01804" "POLR1A_000006" "g.86269172T>C" "" "" "" "POLR1A(NM_015425.3):c.3412A>G (p.(Lys1138Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86042049T>C" "" "VUS" "" "0000327150" "0" "50" "2" "86302316" "86302316" "subst" "0" "01804" "POLR1A_000009" "g.86302316G>A" "" "" "" "POLR1A(NM_015425.6):c.1448C>T (p.(Ala483Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86075193G>A" "" "VUS" "" "0000327151" "0" "50" "2" "86327272" "86327272" "subst" "2.4369E-5" "01804" "POLR1A_000011" "g.86327272G>A" "" "" "" "POLR1A(NM_015425.3):c.101C>T (p.(Thr34Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86100149G>A" "" "VUS" "" "0000338830" "0" "10" "2" "86305123" "86305123" "subst" "0.92219" "02327" "POLR1A_000013" "g.86305123T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86078000T>C" "" "benign" "" "0000340498" "0" "10" "2" "86259443" "86259443" "subst" "0.57873" "02327" "POLR1A_000012" "g.86259443C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86032320C>T" "" "benign" "" "0000340500" "0" "10" "2" "86315741" "86315741" "subst" "0.801655" "02327" "POLR1A_000014" "g.86315741C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86088618C>T" "" "benign" "" "0000340501" "0" "30" "2" "86316948" "86316948" "subst" "0.00261278" "02327" "POLR1A_000015" "g.86316948T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86089825T>G" "" "likely benign" "" "0000341999" "0" "30" "2" "86317012" "86317012" "subst" "0.00700346" "02327" "POLR1A_000016" "g.86317012C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86089889C>G" "" "likely benign" "" "0000348207" "0" "10" "2" "86317037" "86317037" "subst" "0.852147" "02327" "POLR1A_000017" "g.86317037G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86089914G>C" "" "benign" "" "0000351394" "0" "10" "2" "86332809" "86332809" "subst" "0.807178" "02327" "POLR1A_000018" "g.86332809G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86105686G>A" "" "benign" "" "0000517030" "0" "30" "2" "86255015" "86255015" "subst" "1.2183E-5" "01943" "POLR1A_000019" "g.86255015G>A" "" "" "" "POLR1A(NM_015425.5):c.5055C>T (p.T1685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86027892G>A" "" "likely benign" "" "0000517031" "0" "10" "2" "86255766" "86255766" "subst" "0.00706633" "01943" "POLR1A_000020" "g.86255766G>A" "" "" "" "POLR1A(NM_015425.5):c.4848C>T (p.A1616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86028643G>A" "" "benign" "" "0000517033" "0" "30" "2" "86260785" "86260785" "subst" "0.0174833" "01804" "POLR1A_000022" "g.86260785C>T" "" "" "" "POLR1A(NM_015425.3):c.4160G>A (p.(Arg1387Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86033662C>T" "" "likely benign" "" "0000517034" "0" "30" "2" "86270182" "86270182" "subst" "3.65497E-5" "01804" "POLR1A_000023" "g.86270182C>T" "" "" "" "POLR1A(NM_015425.3):c.3272G>A (p.(Ser1091Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86043059C>T" "" "likely benign" "" "0000517035" "0" "50" "2" "86274383" "86274383" "subst" "0" "01804" "POLR1A_000024" "g.86274383A>G" "" "" "" "POLR1A(NM_015425.3):c.2638T>C (p.(Cys880Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86047260A>G" "" "VUS" "" "0000517036" "0" "50" "2" "86280119" "86280119" "subst" "0" "01943" "POLR1A_000025" "g.86280119A>G" "" "" "" "POLR1A(NM_015425.5):c.2213T>C (p.I738T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86052996A>G" "" "VUS" "" "0000517037" "0" "30" "2" "86292415" "86292415" "subst" "0.00314845" "01943" "POLR1A_000026" "g.86292415C>T" "" "" "" "POLR1A(NM_015425.5):c.2040G>A (p.P680=), POLR1A(NM_015425.6):c.2040G>A (p.P680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86065292C>T" "" "likely benign" "" "0000517039" "0" "30" "2" "86297186" "86297186" "subst" "0.0017407" "01943" "POLR1A_000028" "g.86297186C>T" "" "" "" "POLR1A(NM_015425.5):c.1821G>A (p.E607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86070063C>T" "" "likely benign" "" "0000517041" "0" "50" "2" "86304980" "86304980" "subst" "0" "01804" "POLR1A_000030" "g.86304980A>C" "" "" "" "POLR1A(NM_015425.3):c.1380+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86077857A>C" "" "VUS" "" "0000517043" "0" "30" "2" "86310235" "86310235" "subst" "2.43671E-5" "01804" "POLR1A_000032" "g.86310235C>T" "" "" "" "POLR1A(NM_015425.3):c.787G>A (p.(Glu263Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86083112C>T" "" "likely benign" "" "0000608137" "0" "30" "2" "86265864" "86265864" "subst" "2.43758E-5" "01943" "POLR1A_000034" "g.86265864C>T" "" "" "" "POLR1A(NM_015425.5):c.3993G>A (p.K1331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86038741C>T" "" "likely benign" "" "0000608138" "0" "30" "2" "86307966" "86307966" "subst" "0" "01943" "POLR1A_000035" "g.86307966C>A" "" "" "" "POLR1A(NM_015425.5):c.1059G>T (p.E353D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86080843C>A" "" "likely benign" "" "0000608139" "0" "30" "2" "86327200" "86327200" "subst" "0" "01943" "POLR1A_000037" "g.86327200G>A" "" "" "" "POLR1A(NM_015425.5):c.173C>T (p.A58V), POLR1A(NM_015425.6):c.173C>T (p.A58V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86100077G>A" "" "likely benign" "" "0000608140" "0" "30" "2" "86332852" "86332852" "subst" "4.46817E-5" "01943" "POLR1A_000038" "g.86332852G>A" "" "" "" "POLR1A(NM_015425.5):c.48C>T (p.S16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86105729G>A" "" "likely benign" "" "0000621126" "0" "30" "2" "86317035" "86317035" "subst" "0.000784024" "01943" "POLR1A_000036" "g.86317035G>A" "" "" "" "POLR1A(NM_015425.5):c.450C>T (p.P150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86089912G>A" "" "likely benign" "" "0000654729" "0" "50" "2" "86292438" "86292438" "subst" "0.000373908" "01943" "POLR1A_000039" "g.86292438G>C" "" "" "" "POLR1A(NM_015425.5):c.2017C>G (p.P673A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86065315G>C" "" "VUS" "" "0000688868" "0" "30" "2" "86257382" "86257382" "subst" "0.000601015" "01943" "POLR1A_000041" "g.86257382G>A" "" "" "" "POLR1A(NM_015425.5):c.4716C>T (p.N1572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688869" "0" "30" "2" "86266531" "86266531" "subst" "1.21835E-5" "01943" "POLR1A_000042" "g.86266531G>A" "" "" "" "POLR1A(NM_015425.5):c.3795C>T (p.S1265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719082" "0" "50" "2" "86305029" "86305029" "subst" "4.06197E-6" "02329" "POLR1A_000010" "g.86305029T>C" "" "" "" "POLR1A(NM_015425.6):c.1333A>G (p.I445V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800838" "0" "30" "2" "86274321" "86274321" "subst" "3.65521E-5" "01943" "POLR1A_000043" "g.86274321C>T" "" "" "" "POLR1A(NM_015425.5):c.2700G>A (p.S900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850056" "0" "30" "2" "86255167" "86255167" "subst" "1.62481E-5" "02325" "POLR1A_000044" "g.86255167C>T" "" "" "" "POLR1A(NM_015425.6):c.4903G>A (p.A1635T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850057" "0" "30" "2" "86297400" "86297400" "subst" "0.000974015" "01943" "POLR1A_000046" "g.86297400G>A" "" "" "" "POLR1A(NM_015425.5):c.1612-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858715" "0" "30" "2" "86266525" "86266525" "subst" "7.71592E-5" "01943" "POLR1A_000045" "g.86266525G>A" "" "" "" "POLR1A(NM_015425.5):c.3801C>T (p.P1267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885422" "0" "30" "2" "86258721" "86258721" "subst" "0.00238529" "02326" "POLR1A_000021" "g.86258721C>T" "" "" "" "POLR1A(NM_015425.6):c.4310G>A (p.G1437D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885423" "0" "10" "2" "86292415" "86292415" "subst" "0.00314845" "02326" "POLR1A_000026" "g.86292415C>T" "" "" "" "POLR1A(NM_015425.5):c.2040G>A (p.P680=), POLR1A(NM_015425.6):c.2040G>A (p.P680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885424" "0" "30" "2" "86292499" "86292499" "subst" "0.00278209" "02326" "POLR1A_000027" "g.86292499G>C" "" "" "" "POLR1A(NM_015425.6):c.1956C>G (p.H652Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927554" "0" "70" "2" "86327197" "86327197" "subst" "0" "00006" "POLR1A_000062" "g.86327197T>A" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86100074T>A" "" "likely pathogenic" "" "0000927555" "0" "70" "2" "86327197" "86327197" "subst" "0" "00006" "POLR1A_000062" "g.86327197T>A" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86100074T>A" "" "likely pathogenic" "" "0000927556" "0" "90" "2" "86327183" "86327183" "del" "0" "00006" "POLR1A_000061" "g.86327183del" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "190delT" "likely benign 220 kb deletion at 7p12.3" "De novo" "" "" "0" "" "" "g.86100060del" "" "likely pathogenic" "" "0000927557" "21" "50" "2" "86305316" "86305316" "subst" "8.1493E-6" "00006" "POLR1A_000060" "g.86305316C>T" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline" "" "" "0" "" "" "g.86078193C>T" "" "VUS" "" "0000927558" "0" "50" "2" "86305316" "86305316" "subst" "8.1493E-6" "00006" "POLR1A_000060" "g.86305316C>T" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86078193C>T" "" "VUS" "" "0000927559" "21" "70" "2" "86302322" "86302322" "subst" "0" "00006" "POLR1A_000059" "g.86302322C>T" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline" "" "" "0" "" "" "g.86075199C>T" "" "likely pathogenic" "" "0000927560" "0" "70" "2" "86302322" "86302322" "subst" "0" "00006" "POLR1A_000059" "g.86302322C>T" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86075199C>T" "" "likely pathogenic" "" "0000927561" "0" "70" "2" "86302276" "86302276" "subst" "0" "00006" "POLR1A_000058" "g.86302276C>A" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "De novo" "" "" "0" "" "" "g.86075153C>A" "" "likely pathogenic" "" "0000927562" "11" "90" "2" "86276059" "86276062" "del" "0" "00006" "POLR1A_000057" "g.86276059_86276062del" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline" "" "" "0" "" "" "g.86048936_86048939del" "" "likely pathogenic" "" "0000927563" "11" "90" "2" "86267608" "86267608" "del" "0" "00006" "POLR1A_000048" "g.86267608del" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "3649delC" "" "Germline" "" "" "0" "" "" "g.86040485del" "" "pathogenic" "" "0000927564" "0" "70" "2" "86267534" "86267534" "subst" "0" "00006" "POLR1A_000056" "g.86267534C>T" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "De novo" "" "" "0" "" "" "g.86040411C>T" "" "likely pathogenic" "" "0000927565" "21" "50" "2" "86266476" "86266476" "subst" "0" "00006" "POLR1A_000055" "g.86266476G>A" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline" "" "" "0" "" "" "g.86039353G>A" "" "VUS" "" "0000927566" "0" "70" "2" "86265869" "86265871" "del" "0" "00006" "POLR1A_000054" "g.86265869_86265871del" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "3988_3990delGAG" "" "De novo" "" "" "0" "" "" "g.86038746_86038748del" "" "likely pathogenic" "" "0000927567" "0" "70" "2" "86265869" "86265871" "del" "0" "00006" "POLR1A_000054" "g.86265869_86265871del" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "3988_3990delGAG" "" "De novo" "" "" "0" "" "" "g.86038746_86038748del" "" "likely pathogenic" "" "0000927568" "0" "70" "2" "86257413" "86257413" "subst" "0" "00006" "POLR1A_000053" "g.86257413C>A" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "De novo" "" "" "0" "" "" "g.86030290C>A" "" "likely pathogenic" "" "0000927569" "0" "70" "2" "86257413" "86257413" "subst" "0" "00006" "POLR1A_000053" "g.86257413C>A" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "De novo" "" "" "0" "" "" "g.86030290C>A" "" "likely pathogenic" "" "0000927570" "0" "70" "2" "86255723" "86255723" "subst" "2.84317E-5" "00006" "POLR1A_000052" "g.86255723C>T" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86028600C>T" "" "likely pathogenic" "" "0000927571" "0" "70" "2" "86255157" "86255157" "subst" "0" "00006" "POLR1A_000051" "g.86255157G>A" "" "{PMID:Smallwood 2023:37075751}, {DOI:Smallwood 2023:10.1016/j.ajhg.2023.03.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86028034G>A" "" "likely pathogenic" "" "0000927572" "0" "90" "2" "86297230" "86297230" "subst" "0" "00006" "POLR1A_000047" "g.86297230C>G" "" "{PMID:Weaver 2015:25913037}" "" "" "" "De novo" "" "" "0" "" "" "g.86070107C>G" "" "pathogenic (dominant)" "" "0000927573" "11" "90" "2" "86267608" "86267608" "del" "0" "00006" "POLR1A_000048" "g.86267608del" "" "{PMID:Weaver 2015:25913037}" "" "3649delC" "" "Germline" "" "" "0" "" "" "g.86040485del" "" "pathogenic" "" "0000927574" "0" "90" "2" "86265962" "86265962" "subst" "0" "00006" "POLR1A_000049" "g.86265962C>A" "" "{PMID:Weaver 2015:25913037}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86038839C>A" "" "pathogenic" "" "0000927575" "0" "90" "2" "86305037" "86305037" "subst" "0" "00006" "POLR1A_000050" "g.86305037C>T" "" "{PMID:Shenoy 2022:34714179}" "" "" "" "De novo" "" "" "0" "" "" "g.86077914C>T" "" "likely pathogenic (dominant)" "" "0000947976" "0" "30" "2" "86338249" "86338249" "subst" "0.00303434" "01804" "POLR1A_000063" "g.86338249G>A" "" "" "" "PTCD3(NM_017952.5):c.208G>A (p.(Val70Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975441" "0" "30" "2" "86258763" "86258763" "subst" "0.00116105" "01804" "POLR1A_000064" "g.86258763C>T" "" "" "" "POLR1A(NM_015425.6):c.4273-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975442" "0" "50" "2" "86292453" "86292453" "subst" "0.000125981" "01804" "POLR1A_000007" "g.86292453C>T" "" "" "" "POLR1A(NM_015425.3):c.2002G>A (p.(Val668Met)), POLR1A(NM_015425.5):c.2002G>A (p.V668M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975443" "0" "50" "2" "86297193" "86297193" "subst" "8.13398E-6" "01804" "POLR1A_000065" "g.86297193C>T" "" "" "" "POLR1A(NM_015425.6):c.1814G>A (p.(Arg605Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975444" "0" "30" "2" "86305405" "86305405" "subst" "0.00117471" "02326" "POLR1A_000066" "g.86305405T>C" "" "" "" "POLR1A(NM_015425.6):c.1089A>G (p.E363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993055" "0" "30" "2" "86269062" "86269062" "subst" "1.62435E-5" "01804" "POLR1A_000067" "g.86269062C>A" "" "" "" "POLR1A(NM_015425.3):c.3522G>T (p.(Trp1174Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993056" "0" "30" "2" "86292455" "86292455" "subst" "0.000182878" "01804" "POLR1A_000068" "g.86292455C>T" "" "" "" "POLR1A(NM_015425.3):c.2000G>A (p.(Arg667His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993057" "0" "50" "2" "86292530" "86292530" "subst" "5.68648E-5" "01804" "POLR1A_000069" "g.86292530G>T" "" "" "" "POLR1A(NM_015425.3):c.1925C>A (p.(Thr642Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993058" "0" "30" "2" "86304983" "86304983" "subst" "0" "01804" "POLR1A_000070" "g.86304983A>C" "" "" "" "POLR1A(NM_015425.3):c.1379T>G (p.(Met460Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993059" "0" "30" "2" "86305304" "86305304" "subst" "2.85507E-5" "01804" "POLR1A_000071" "g.86305304T>C" "" "" "" "POLR1A(NM_015425.3):c.1190A>G (p.(His397Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993060" "0" "50" "2" "86308085" "86308085" "subst" "4.09343E-6" "01804" "POLR1A_000072" "g.86308085G>A" "" "" "" "POLR1A(NM_015425.3):c.940C>T (p.(Arg314Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993061" "0" "50" "2" "86308747" "86308747" "subst" "1.24144E-5" "01804" "POLR1A_000073" "g.86308747A>C" "" "" "" "POLR1A(NM_015425.3):c.900T>G (p.(Asp300Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993062" "0" "50" "2" "86316961" "86316961" "subst" "4.0621E-6" "02327" "POLR1A_000074" "g.86316961C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993063" "0" "50" "2" "86317034" "86317034" "subst" "1.62492E-5" "01804" "POLR1A_000075" "g.86317034C>T" "" "" "" "POLR1A(NM_015425.3):c.451G>A (p.(Asp151Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024684" "0" "50" "2" "86302220" "86302220" "subst" "8.18518E-6" "02325" "POLR1A_000076" "g.86302220C>T" "" "" "" "POLR1A(NM_015425.6):c.1544G>A (p.R515Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024685" "0" "50" "2" "86327200" "86327200" "subst" "0" "02325" "POLR1A_000037" "g.86327200G>A" "" "" "" "POLR1A(NM_015425.5):c.173C>T (p.A58V), POLR1A(NM_015425.6):c.173C>T (p.A58V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033508" "0" "50" "2" "86266569" "86266569" "subst" "9.7473E-5" "01804" "POLR1A_000077" "g.86266569T>C" "" "" "" "POLR1A(NM_015425.6):c.3757A>G (p.(Met1253Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033509" "0" "30" "2" "86267665" "86267665" "subst" "0" "01804" "POLR1A_000078" "g.86267665T>C" "" "" "" "POLR1A(NM_015425.6):c.3590A>G (p.(Gln1197Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033510" "0" "50" "2" "86269016" "86269016" "subst" "2.43692E-5" "01804" "POLR1A_000079" "g.86269016C>T" "" "" "" "POLR1A(NM_015425.6):c.3568G>A (p.(Asp1190Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033511" "0" "50" "2" "86272754" "86272754" "subst" "1.62493E-5" "01804" "POLR1A_000080" "g.86272754C>T" "" "" "" "POLR1A(NM_015425.6):c.2872G>A (p.(Gly958Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033512" "0" "50" "2" "86276085" "86276085" "subst" "8.12222E-6" "01804" "POLR1A_000081" "g.86276085G>A" "" "" "" "POLR1A(NM_015425.6):c.2556C>T (p.(Gly852=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033513" "0" "30" "2" "86310298" "86310298" "subst" "0" "01804" "POLR1A_000082" "g.86310298C>G" "" "" "" "POLR1A(NM_015425.6):c.731-7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033514" "0" "50" "2" "86315679" "86315679" "subst" "5.29657E-5" "01804" "POLR1A_000083" "g.86315679G>C" "" "" "" "POLR1A(NM_015425.6):c.730+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033515" "0" "30" "2" "86327759" "86327759" "subst" "0" "01804" "POLR1A_000084" "g.86327759T>A" "" "" "" "POLR1A(NM_015425.6):c.78-464A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045861" "0" "50" "2" "86266553" "86266553" "subst" "0" "02325" "POLR1A_000085" "g.86266553T>C" "" "" "" "POLR1A(NM_015425.6):c.3773A>G (p.N1258S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050716" "0" "50" "2" "86265904" "86265904" "subst" "1.62602E-5" "01804" "POLR1A_000086" "g.86265904C>A" "" "" "" "POLR1A(NM_015425.6):c.3953G>T (p.(Arg1318Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050717" "0" "50" "2" "86272856" "86272856" "subst" "2.08408E-5" "01804" "POLR1A_000087" "g.86272856G>A" "" "" "" "POLR1A(NM_015425.6):c.2770C>T (p.(Arg924Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050718" "0" "30" "2" "86292598" "86292598" "subst" "0" "01804" "POLR1A_000088" "g.86292598A>G" "" "" "" "POLR1A(NM_015425.6):c.1867-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050719" "0" "30" "2" "86308105" "86308105" "subst" "0" "01804" "POLR1A_000089" "g.86308105C>T" "" "" "" "POLR1A(NM_015425.6):c.924-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050720" "0" "30" "2" "86332845" "86332845" "subst" "0" "01804" "POLR1A_000090" "g.86332845T>C" "" "" "" "POLR1A(NM_015425.6):c.55A>G (p.(Met19Val))" "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 POLR1A ## Count = 94 "{{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}}" "0000129746" "00016496" "70" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Ser934Leu)" "20" "0000306131" "00016496" "30" "1991" "0" "1991" "0" "c.1991A>G" "r.(?)" "p.(Lys664Arg)" "" "0000306132" "00016496" "50" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Val668Met)" "" "0000327145" "00016496" "50" "5058" "0" "5058" "0" "c.5058G>T" "r.(?)" "p.(Met1686Ile)" "" "0000327147" "00016496" "50" "3795" "0" "3795" "0" "c.3795C>A" "r.(?)" "p.(Ser1265Arg)" "" "0000327148" "00016496" "50" "3413" "0" "3413" "0" "c.3413A>C" "r.(?)" "p.(Lys1138Thr)" "" "0000327149" "00016496" "50" "3412" "0" "3412" "0" "c.3412A>G" "r.(?)" "p.(Lys1138Glu)" "" "0000327150" "00016496" "50" "1448" "0" "1448" "0" "c.1448C>T" "r.(?)" "p.(Ala483Val)" "" "0000327151" "00016496" "50" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Thr34Met)" "" "0000338830" "00016496" "10" "1258" "-19" "1258" "-19" "c.1258-19A>G" "r.(=)" "p.(=)" "" "0000340498" "00016496" "10" "4224" "0" "4224" "0" "c.4224G>A" "r.(?)" "p.(Gly1408=)" "" "0000340500" "00016496" "10" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(Thr226=)" "" "0000340501" "00016496" "30" "537" "0" "537" "0" "c.537A>C" "r.(?)" "p.(Ala179=)" "" "0000341999" "00016496" "30" "473" "0" "473" "0" "c.473G>C" "r.(?)" "p.(Arg158Pro)" "" "0000348207" "00016496" "10" "448" "0" "448" "0" "c.448C>G" "r.(?)" "p.(Pro150Ala)" "" "0000351394" "00016496" "10" "77" "14" "77" "14" "c.77+14C>T" "r.(=)" "p.(=)" "" "0000517030" "00016496" "30" "5055" "0" "5055" "0" "c.5055C>T" "r.(?)" "p.(Thr1685=)" "" "0000517031" "00016496" "10" "4848" "0" "4848" "0" "c.4848C>T" "r.(?)" "p.(Ala1616=)" "" "0000517033" "00016496" "30" "4160" "0" "4160" "0" "c.4160G>A" "r.(?)" "p.(Arg1387Gln)" "" "0000517034" "00016496" "30" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Ser1091Asn)" "" "0000517035" "00016496" "50" "2638" "0" "2638" "0" "c.2638T>C" "r.(?)" "p.(Cys880Arg)" "" "0000517036" "00016496" "50" "2213" "0" "2213" "0" "c.2213T>C" "r.(?)" "p.(Ile738Thr)" "" "0000517037" "00016496" "30" "2040" "0" "2040" "0" "c.2040G>A" "r.(?)" "p.(Pro680=)" "" "0000517039" "00016496" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Glu607=)" "" "0000517041" "00016496" "50" "1380" "2" "1380" "2" "c.1380+2T>G" "r.spl?" "p.?" "" "0000517043" "00016496" "30" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Glu263Lys)" "" "0000608137" "00016496" "30" "3993" "0" "3993" "0" "c.3993G>A" "r.(?)" "p.(Lys1331=)" "" "0000608138" "00016496" "30" "1059" "0" "1059" "0" "c.1059G>T" "r.(?)" "p.(Glu353Asp)" "" "0000608139" "00016496" "30" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ala58Val)" "" "0000608140" "00016496" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Ser16=)" "" "0000621126" "00016496" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Pro150=)" "" "0000654729" "00016496" "50" "2017" "0" "2017" "0" "c.2017C>G" "r.(?)" "p.(Pro673Ala)" "" "0000688868" "00016496" "30" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Asn1572=)" "" "0000688869" "00016496" "30" "3795" "0" "3795" "0" "c.3795C>T" "r.(?)" "p.(Ser1265=)" "" "0000719082" "00016496" "50" "1333" "0" "1333" "0" "c.1333A>G" "r.(?)" "p.(Ile445Val)" "" "0000800838" "00016496" "30" "2700" "0" "2700" "0" "c.2700G>A" "r.(?)" "p.(Ser900=)" "" "0000850056" "00016496" "30" "4903" "0" "4903" "0" "c.4903G>A" "r.(?)" "p.(Ala1635Thr)" "" "0000850057" "00016496" "30" "1612" "-5" "1612" "-5" "c.1612-5C>T" "r.spl?" "p.?" "" "0000858715" "00016496" "30" "3801" "0" "3801" "0" "c.3801C>T" "r.(?)" "p.(Pro1267=)" "" "0000885422" "00016496" "30" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Gly1437Asp)" "" "0000885423" "00016496" "10" "2040" "0" "2040" "0" "c.2040G>A" "r.(?)" "p.(Pro680=)" "" "0000885424" "00016496" "30" "1956" "0" "1956" "0" "c.1956C>G" "r.(?)" "p.(His652Gln)" "" "0000927554" "00016496" "70" "176" "0" "176" "0" "c.176A>T" "r.(?)" "p.(Asp59Val)" "" "0000927555" "00016496" "70" "176" "0" "176" "0" "c.176A>T" "r.(?)" "p.(Asp59Val)" "" "0000927556" "00016496" "90" "190" "0" "190" "0" "c.190del" "r.(?)" "p.(Cys64AlafsTer42)" "" "0000927557" "00016496" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "" "0000927558" "00016496" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "" "0000927559" "00016496" "70" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.(Arg481Lys)" "" "0000927560" "00016496" "70" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.(Arg481Lys)" "" "0000927561" "00016496" "70" "1488" "0" "1488" "0" "c.1488G>T" "r.(?)" "p.(Met496Ile)" "" "0000927562" "00016496" "90" "2583" "0" "2586" "0" "c.2583_2586del" "r.(?)" "p.(Asp862Ter)" "" "0000927563" "00016496" "90" "3649" "0" "3649" "0" "c.3649del" "r.(?)" "p.(Gln1217ArgfsTer10)" "" "0000927564" "00016496" "70" "3721" "0" "3721" "0" "c.3721G>A" "r.(?)" "p.(Val1241Ile)" "" "0000927565" "00016496" "50" "3850" "0" "3850" "0" "c.3850C>T" "r.(?)" "p.(Gln1284Ter)" "" "0000927566" "00016496" "70" "3988" "0" "3990" "0" "c.3988_3990del" "r.(?)" "p.(Glu1330del)" "" "0000927567" "00016496" "70" "3988" "0" "3990" "0" "c.3988_3990del" "r.(?)" "p.(Glu1330del)" "" "0000927568" "00016496" "70" "4685" "0" "4685" "0" "c.4685G>T" "r.(?)" "p.(Cys1562Phe)" "" "0000927569" "00016496" "70" "4685" "0" "4685" "0" "c.4685G>T" "r.(?)" "p.(Cys1562Phe)" "" "0000927570" "00016496" "70" "4891" "0" "4891" "0" "c.4891G>A" "r.(?)" "p.(Val1631Met)" "" "0000927571" "00016496" "70" "4913" "0" "4913" "0" "c.4913C>T" "r.(?)" "p.(Pro1638Leu)" "" "0000927572" "00016496" "90" "1777" "0" "1777" "0" "c.1777G>C" "r.(?)" "p.(Glu593Gln)" "" "0000927573" "00016496" "90" "3649" "0" "3649" "0" "c.3649del" "r.(?)" "p.(Gln1217Argfs*10)" "" "0000927574" "00016496" "90" "3895" "0" "3895" "0" "c.3895G>T" "r.(?)" "p.(Val1299Phe)" "" "0000927575" "00016496" "90" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442His)" "" "0000947976" "00016496" "30" "-5350" "0" "-5350" "0" "c.-5350C>T" "r.(?)" "p.(=)" "" "0000975441" "00016496" "30" "4273" "-5" "4273" "-5" "c.4273-5G>A" "r.spl?" "p.?" "" "0000975442" "00016496" "50" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Val668Met)" "" "0000975443" "00016496" "50" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Arg605Gln)" "" "0000975444" "00016496" "30" "1089" "0" "1089" "0" "c.1089A>G" "r.(?)" "p.(=)" "" "0000993055" "00016496" "30" "3522" "0" "3522" "0" "c.3522G>T" "r.(?)" "p.(Trp1174Cys)" "" "0000993056" "00016496" "30" "2000" "0" "2000" "0" "c.2000G>A" "r.(?)" "p.(Arg667His)" "" "0000993057" "00016496" "50" "1925" "0" "1925" "0" "c.1925C>A" "r.(?)" "p.(Thr642Asn)" "" "0000993058" "00016496" "30" "1379" "0" "1379" "0" "c.1379T>G" "r.(?)" "p.(Met460Arg)" "" "0000993059" "00016496" "30" "1190" "0" "1190" "0" "c.1190A>G" "r.(?)" "p.(His397Arg)" "" "0000993060" "00016496" "50" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Arg314Cys)" "" "0000993061" "00016496" "50" "900" "0" "900" "0" "c.900T>G" "r.(?)" "p.(Asp300Glu)" "" "0000993062" "00016496" "50" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Gly175Glu)" "" "0000993063" "00016496" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Asp151Asn)" "" "0001024684" "00016496" "50" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Arg515Gln)" "" "0001024685" "00016496" "50" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ala58Val)" "" "0001033508" "00016496" "50" "3757" "0" "3757" "0" "c.3757A>G" "r.(?)" "p.(Met1253Val)" "" "0001033509" "00016496" "30" "3590" "0" "3590" "0" "c.3590A>G" "r.(?)" "p.(Gln1197Arg)" "" "0001033510" "00016496" "50" "3568" "0" "3568" "0" "c.3568G>A" "r.(?)" "p.(Asp1190Asn)" "" "0001033511" "00016496" "50" "2872" "0" "2872" "0" "c.2872G>A" "r.(?)" "p.(Gly958Ser)" "" "0001033512" "00016496" "50" "2556" "0" "2556" "0" "c.2556C>T" "r.(?)" "p.(=)" "" "0001033513" "00016496" "30" "731" "-7" "731" "-7" "c.731-7G>C" "r.(=)" "p.(=)" "" "0001033514" "00016496" "50" "730" "10" "730" "10" "c.730+10C>G" "r.(=)" "p.(=)" "" "0001033515" "00016496" "30" "78" "-464" "78" "-464" "c.78-464A>T" "r.(=)" "p.(=)" "" "0001045861" "00016496" "50" "3773" "0" "3773" "0" "c.3773A>G" "r.(?)" "p.(Asn1258Ser)" "" "0001050716" "00016496" "50" "3953" "0" "3953" "0" "c.3953G>T" "r.(?)" "p.(Arg1318Leu)" "" "0001050717" "00016496" "50" "2770" "0" "2770" "0" "c.2770C>T" "r.(?)" "p.(Arg924Trp)" "" "0001050718" "00016496" "30" "1867" "-10" "1867" "-10" "c.1867-10T>C" "r.(=)" "p.(=)" "" "0001050719" "00016496" "30" "924" "-4" "924" "-4" "c.924-4G>A" "r.spl?" "p.?" "" "0001050720" "00016496" "30" "55" "0" "55" "0" "c.55A>G" "r.(?)" "p.(Met19Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000080783" "0000129746" "0000436538" "0000927554" "0000436539" "0000927555" "0000436540" "0000927556" "0000436541" "0000927557" "0000436542" "0000927558" "0000436543" "0000927559" "0000436544" "0000927560" "0000436545" "0000927561" "0000436546" "0000927562" "0000436547" "0000927563" "0000436548" "0000927564" "0000436549" "0000927565" "0000436550" "0000927566" "0000436551" "0000927567" "0000436552" "0000927568" "0000436553" "0000927569" "0000436554" "0000927570" "0000436555" "0000927571" "0000436556" "0000927572" "0000436557" "0000927573" "0000436558" "0000927574" "0000436559" "0000927575"