### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNU6-1) # 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}}" "RNU6-1" "RNA, U6 small nuclear 1" "15" "q23" "unknown" "NC_000015.9" "UD_136090710539" "" "" "" "1" "10227" "26827" "180692" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-14 12:22:19" "00006" "2025-01-18 09:42:50" ## 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}}" "00017977" "RNU6-1" "RNA, U6 small nuclear 1" "001" "NR_004394.1" "" "" "" "" "" "1" "106" "106" "68132383" "68132278" "" "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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RNU6-1" "00112" ## 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}}" "00050580" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00459804" "" "" "" "2" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2 RP families" "" "" "" "" "0" "" "" "" "" "00459805" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459806" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459904" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459905" "" "" "" "17" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "17 RP families" "" "" "" "" "0" "" "" "" "" "00459906" "" "" "" "4" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "4 RP families" "" "" "" "" "0" "" "" "" "" "00459907" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459908" "" "" "" "2" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2 RP families" "" "" "" "" "0" "" "" "" "" "00459909" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459910" "" "" "" "8" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "8 RP families" "" "" "" "" "0" "" "" "" "" "00459911" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459912" "" "" "" "2" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2 RP families" "" "" "" "" "0" "" "" "" "" "00459913" "" "" "" "4" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "4 RP families" "" "" "" "" "0" "" "" "" "" "00459914" "" "" "" "2" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2 RP families" "" "" "" "" "0" "" "" "" "" "00459915" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459916" "" "" "" "14" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "14 RP families" "" "" "" "" "0" "" "" "" "" "00460081" "" "" "" "2" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 2 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "RNU6-1-FamA" "00460082" "" "" "" "1" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2-generation family, 1 affected, unaffected parents" "" "" "Netherlands" "" "0" "" "" "Curacao" "RNU6-1-FamB" "00460083" "" "" "" "4" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 4 affected" "" "" "Hungary" "" "0" "" "" "" "RNU6-1-FamC" "00460084" "" "" "" "1" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "RNU6-1-FamD" "00460085" "" "" "" "3" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 3 affected" "" "" "Netherlands" "" "0" "" "" "" "RNU6-1-FamE" "00460086" "" "" "" "2" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 2 affected" "" "" "Belgium" "" "0" "" "" "" "RNU6-1-FamF" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00050580" "00198" "00459804" "00112" "00459805" "00112" "00459806" "00112" "00459904" "00112" "00459905" "00112" "00459906" "00112" "00459907" "00112" "00459908" "00112" "00459909" "00112" "00459910" "00112" "00459911" "00112" "00459912" "00112" "00459913" "00112" "00459914" "00112" "00459915" "00112" "00459916" "00112" "00460081" "00112" "00460082" "00112" "00460083" "00112" "00460084" "00112" "00460085" "00112" "00460086" "00112" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198 ## Count = 7 "{{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}}" "0000037192" "00198" "00050580" "00006" "Unknown" "" "patent ductus arteriosus, feeding difficulties in infancy, plagiocephaly, asymmetry of the ears, single transverse palmar crease, gingival overgrowth, skin dimples" "" "" "" "" "" "" "" "" "" "" "" "0000347802" "00112" "00460081" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347803" "00112" "00460082" "02230" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa" "" "0000347804" "00112" "00460083" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347805" "00112" "00460084" "02230" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa" "" "0000347806" "00112" "00460085" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347807" "00112" "00460086" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" ## 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}}" "0000050525" "00050580" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000461434" "00459804" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461435" "00459805" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461436" "00459806" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461534" "00459904" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461535" "00459905" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461536" "00459906" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461537" "00459907" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461538" "00459908" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461539" "00459909" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461540" "00459910" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461541" "00459911" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461542" "00459912" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461543" "00459913" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461544" "00459914" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461545" "00459915" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461546" "00459916" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461711" "00460081" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "Genomics England" "0000461712" "00460082" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "WGS" "0000461713" "00460083" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ" "DNA" "" "" "0000461714" "00460084" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "Genomics England" "0000461715" "00460085" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "WGS" "0000461716" "00460086" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000461711" "RNU6-1" "0000461712" "RNU6-1" "0000461713" "RNU6-1" "0000461714" "RNU6-1" "0000461715" "RNU6-1" "0000461716" "RNU6-1" ## 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 = 23 "{{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}}" "0000079505" "0" "90" "15" "67629083" "72199082" "del" "0" "00006" "MAP2K5_000011" "g.67629083_72199082del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0001020750" "0" "50" "15" "68132377" "68132377" "subst" "0" "00006" "RNU6-1_000016" "g.68132377C>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.67840039C>A" "" "VUS" "" "0001020751" "0" "50" "15" "68132333" "68132333" "del" "0" "00006" "RNU6-1_000011" "g.68132333del" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.67839995del" "" "VUS" "" "0001020752" "0" "50" "15" "68132310" "68132310" "subst" "0" "00006" "RNU6-1_000007" "g.68132310A>G" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.67839972A>G" "" "VUS" "" "0001020850" "0" "30" "15" "68132380" "68132380" "subst" "0" "00006" "RNU6-1_000018" "g.68132380G>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67840042G>A" "" "likely benign" "" "0001020851" "0" "30" "15" "68132378" "68132378" "subst" "0" "00006" "RNU6-1_000017" "g.68132378G>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67840040G>A" "" "likely benign" "" "0001020852" "0" "30" "15" "68132373" "68132373" "subst" "0" "00006" "RNU6-1_000015" "g.68132373G>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67840035G>A" "" "likely benign" "" "0001020853" "0" "30" "15" "68132367" "68132367" "subst" "0" "00006" "RNU6-1_000014" "g.68132367G>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67840029G>A" "" "likely benign" "" "0001020854" "0" "30" "15" "68132362" "68132362" "subst" "0" "00006" "RNU6-1_000013" "g.68132362T>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67840024T>A" "" "likely benign" "" "0001020855" "0" "30" "15" "68132350" "68132351" "ins" "0" "00006" "RNU6-1_000012" "g.68132350_68132351insA" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67840012_67840013insA" "" "likely benign" "" "0001020856" "0" "30" "15" "68132327" "68132327" "subst" "0" "00006" "RNU6-1_000008" "g.68132327A>G" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67839989A>G" "" "likely benign" "" "0001020857" "0" "30" "15" "68132306" "68132306" "subst" "0" "00006" "RNU6-1_000006" "g.68132306T>C" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67839968T>C" "" "likely benign" "" "0001020858" "0" "30" "15" "68132288" "68132288" "subst" "0" "00006" "RNU6-1_000005" "g.68132288A>G" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67839950A>G" "" "likely benign" "" "0001020859" "0" "30" "15" "68132282" "68132282" "subst" "0" "00006" "RNU6-1_000004" "g.68132282T>C" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67839944T>C" "" "likely benign" "" "0001020860" "0" "30" "15" "68132281" "68132281" "subst" "0" "00006" "RNU6-1_000003" "g.68132281A>G" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67839943A>G" "" "likely benign" "" "0001020861" "0" "30" "15" "68132280" "68132280" "subst" "0" "00006" "RNU6-1_000002" "g.68132280A>G" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67839942A>G" "" "likely benign" "" "0001020862" "0" "30" "15" "68132279" "68132279" "subst" "0" "00006" "RNU6-1_000001" "g.68132279A>G" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.67839941A>G" "" "likely benign" "" "0001021057" "1" "90" "15" "68132328" "68132329" "ins" "0" "02230" "RNU6-1_000010" "g.68132328_68132329insC" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "Germline" "" "" "0" "" "" "g.67839990_67839991insC" "" "pathogenic (dominant)" "ACMG" "0001021058" "0" "90" "15" "68132328" "68132329" "ins" "0" "02230" "RNU6-1_000010" "g.68132328_68132329insC" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3; suspected de novo" "Germline/De novo (untested)" "" "" "0" "" "" "g.67839990_67839991insC" "" "pathogenic (dominant)" "ACMG" "0001021059" "1" "90" "15" "68132328" "68132329" "ins" "0" "02230" "RNU6-1_000010" "g.68132328_68132329insC" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "Germline" "" "" "0" "" "" "g.67839990_67839991insC" "" "pathogenic (dominant)" "ACMG" "0001021060" "0" "90" "15" "68132328" "68132329" "ins" "0" "02230" "RNU6-1_000010" "g.68132328_68132329insC" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3; suspected de novo" "Germline/De novo (untested)" "" "" "0" "" "" "g.67839990_67839991insC" "" "pathogenic (dominant)" "ACMG" "0001021061" "1" "90" "15" "68132327" "68132328" "ins" "0" "02230" "RNU6-1_000009" "g.68132327_68132328insC" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PP3" "Germline" "" "" "0" "" "" "g.67839989_67839990insC" "" "pathogenic (dominant)" "ACMG" "0001021062" "1" "90" "15" "68132327" "68132328" "ins" "0" "02230" "RNU6-1_000009" "g.68132327_68132328insC" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PP3" "Germline" "" "" "0" "" "" "g.67839989_67839990insC" "" "pathogenic (dominant)" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RNU6-1 ## Count = 23 "{{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}}" "0000079505" "00017977" "00" "0" "" "0" "" "n.-4066699_*503195del" "r.0?" "p.0?" "" "0001020750" "00017977" "50" "7" "0" "7" "0" "n.7G>T" "r.(7G>T)" "-" "" "0001020751" "00017977" "50" "52" "0" "52" "0" "n.52del" "r.(52del)" "-" "" "0001020752" "00017977" "50" "74" "0" "74" "0" "n.74T>C" "r.(74T>C)" "-" "" "0001020850" "00017977" "30" "4" "0" "4" "0" "n.4C>T" "r.(4C>T)" "-" "" "0001020851" "00017977" "30" "6" "0" "6" "0" "n.6C>T" "r.(6C>T)" "-" "" "0001020852" "00017977" "30" "11" "0" "11" "0" "n.11C>T" "r.(11C>T)" "-" "" "0001020853" "00017977" "30" "17" "0" "17" "0" "n.17C>T" "r.(17C>T)" "-" "" "0001020854" "00017977" "30" "22" "0" "22" "0" "n.22A>T" "r.(22A>T)" "-" "" "0001020855" "00017977" "30" "33" "0" "34" "0" "n.33_34insT" "r.(33_34insT)" "-" "" "0001020856" "00017977" "30" "57" "0" "57" "0" "n.57T>C" "r.(57T>C)" "-" "" "0001020857" "00017977" "30" "78" "0" "78" "0" "n.78A>G" "r.(78A>G)" "-" "" "0001020858" "00017977" "30" "96" "0" "96" "0" "n.96T>C" "r.(96T>C)" "-" "" "0001020859" "00017977" "30" "102" "0" "102" "0" "n.102A>G" "r.(102A>G)" "-" "" "0001020860" "00017977" "30" "103" "0" "103" "0" "n.103T>C" "r.(103T>C)" "-" "" "0001020861" "00017977" "30" "104" "0" "104" "0" "n.104T>C" "r.(104T>C)" "-" "" "0001020862" "00017977" "30" "105" "0" "105" "0" "n.105T>C" "r.(105T>C)" "-" "" "0001021057" "00017977" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021058" "00017977" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021059" "00017977" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021060" "00017977" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021061" "00017977" "90" "56" "0" "57" "0" "n.56_57insG" "r.(56_57insG)" "-" "" "0001021062" "00017977" "90" "56" "0" "57" "0" "n.56_57insG" "r.(56_57insG)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000050525" "0000079505" "0000461434" "0001020750" "0000461435" "0001020751" "0000461436" "0001020752" "0000461534" "0001020850" "0000461535" "0001020851" "0000461536" "0001020852" "0000461537" "0001020853" "0000461538" "0001020854" "0000461539" "0001020855" "0000461540" "0001020856" "0000461541" "0001020857" "0000461542" "0001020858" "0000461543" "0001020859" "0000461544" "0001020860" "0000461545" "0001020861" "0000461546" "0001020862" "0000461711" "0001021057" "0000461712" "0001021058" "0000461713" "0001021059" "0000461714" "0001021060" "0000461715" "0001021061" "0000461716" "0001021062"