### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DDX58) # 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}}" "DDX58" "DEAD (Asp-Glu-Ala-Asp) box polypeptide 58" "9" "p12" "unknown" "NC_000009.11" "UD_132438614554" "" "http://www.LOVD.nl/DDX58" "" "1" "19102" "23586" "609631" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/DDX58_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-02-15 22:21:09" "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}}" "00006253" "DDX58" "DEAD (Asp-Glu-Ala-Asp) box polypeptide 58" "001" "NM_014314.3" "" "NP_055129.2" "" "" "" "-158" "4598" "2778" "32526322" "32455300" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "04196" "GLC" "glaucoma, congenital (GLC)" "" "" "" "" "" "00006" "2015-02-15 22:39:13" "00006" "2015-05-14 15:57:33" "04441" "SGMRT2" "Singleton-Merten syndrome, type 2 (SGMRT-2)" "AD" "616298" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05106" "MPD" "myopathy, distal (MPD)" "" "" "" "" "" "00006" "2015-12-08 01:43:19" "" "" "05312" "SGMRT" "Singleton-Merten syndrome (SGMRT)" "" "" "" "" "" "00006" "2017-07-28 09:32:18" "00006" "2021-12-10 21:51:32" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DDX58" "04441" "DDX58" "05312" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00032349" "" "" "" "8" "" "00006" "{PMID:Jang 2015:25620203}, {DOI:Jang 2015:10.1016/j.ajhg.2014.11.019}" "4-generation family, 8 affecteds (5F, 3M)" "" "" "Korea" "" "0" "" "" "" "" "00032350" "" "" "" "3" "" "00006" "{PMID:Jang 2015:25620203}, {DOI:Jang 2015:10.1016/j.ajhg.2014.11.019}" "4-generation family, 3 affected females" "F" "no" "Korea" "" "0" "" "" "" "" "00306232" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "140" "00334298" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00412595" "" "" "" "6" "" "04344" "{PMID:Inoue 2022:36512060}, {DOI:Inoue 2022:10.1007/s00401-022-02530-4}" "3-generation family, 6 affected (2F, 4M)" "F" "" "Japan" "" "0" "" "" "" "FamPatII5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00032349" "00198" "00032350" "04196" "00306232" "04441" "00334298" "05793" "00412595" "05106" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04196, 04441, 05106, 05312, 05793 ## Count = 5 "{{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}}" "0000025817" "04196" "00032350" "00006" "Familial, autosomal dominant" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025818" "00198" "00032349" "00006" "Familial, autosomal dominant" "" "see paper; atypical Singleton-Merten syndrome; aortic calcification, glaucoma, skeletal abnormalities, .." "" "" "" "" "" "" "" "" "" "" "" "0000232080" "04441" "00306232" "03695" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253108" "05793" "00334298" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000319213" "05106" "00412595" "00006" "Familial, autosomal dominant" "" "see paper; ..., raised serum creatine kinase level (646–1285 U/mL); childhood motor development normal; 30-50y-asymmetric thumb/grip weakness, atrophy thenar/hypothenar muscles and finger contractures; inability to stand on tiptoes, weakness/atrophy distal leg muscles; 60y-70y-asymmetric involvement proximal muscles, respiratory insufficiency, scoliosis, loss of ambulation" "" "" "" "" "" "" "" "" "" "distal myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000032416" "00032349" "1" "00006" "00006" "2015-02-15 22:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032417" "00032350" "1" "00006" "00006" "2015-02-15 22:33:15" "" "" "SEQ" "DNA" "" "" "0000307365" "00306232" "1" "03695" "03695" "2020-07-11 11:14:51" "" "" "SEQ-NG" "DNA" "" "" "0000335525" "00334298" "1" "04011" "04011" "2021-02-27 05:45:56" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000413864" "00412595" "1" "04344" "04344" "2022-07-01 16:47:21" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000032416" "DDX58" "0000032417" "DDX58" "0000307365" "DDX58" ## 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 = 66 "{{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}}" "0000058544" "1" "90" "9" "32488037" "32488037" "subst" "0" "00006" "DDX58_000001" "g.32488037T>G" "" "{PMID:Jang 2015:25620203}, {DOI:Jang 2015:10.1016/j.ajhg.2014.11.019}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32488039T>G" "" "pathogenic" "" "0000058545" "21" "90" "9" "32488882" "32488882" "subst" "0" "00006" "DDX58_000002" "g.32488882C>A" "" "{PMID:Jang 2015:25620203}, {DOI:Jang 2015:10.1016/j.ajhg.2014.11.019}" "" "" "not in 1000 control chromosomes" "Germline" "yes" "" "0" "" "" "g.32488884C>A" "" "pathogenic" "" "0000252180" "0" "30" "9" "32493945" "32493945" "subst" "0" "02326" "DDX58_000005" "g.32493945A>G" "" "" "" "DDX58(NM_014314.4):c.242-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32493947A>G" "" "likely benign" "" "0000537907" "0" "10" "9" "32457151" "32457151" "subst" "0.000768255" "01943" "DDX58_000006" "g.32457151A>G" "" "" "" "DDX58(NM_014314.3):c.2747T>C (p.I916T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32457153A>G" "" "benign" "" "0000537908" "0" "10" "9" "32459519" "32459519" "subst" "0.00619247" "01943" "DDX58_000007" "g.32459519C>T" "" "" "" "DDX58(NM_014314.3):c.2338-7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32459521C>T" "" "benign" "" "0000537909" "0" "30" "9" "32459519" "32459519" "subst" "0.00619247" "01804" "DDX58_000007" "g.32459519C>T" "" "" "" "DDX58(NM_014314.3):c.2338-7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32459521C>T" "" "likely benign" "" "0000537910" "0" "30" "9" "32466432" "32466432" "subst" "1.68779E-5" "01943" "DDX58_000008" "g.32466432T>C" "" "" "" "DDX58(NM_014314.3):c.2193A>G (p.G731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32466434T>C" "" "likely benign" "" "0000537911" "0" "50" "9" "32467838" "32467838" "subst" "4.06322E-6" "01804" "DDX58_000009" "g.32467838C>T" "" "" "" "DDX58(NM_014314.3):c.2107G>A (p.(Gly703Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32467840C>T" "" "VUS" "" "0000537912" "0" "10" "9" "32481365" "32481365" "subst" "0.000931523" "01943" "DDX58_000010" "g.32481365G>A" "" "" "" "DDX58(NM_014314.3):c.1611C>T (p.A537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32481367G>A" "" "benign" "" "0000537913" "0" "30" "9" "32481516" "32481516" "del" "0" "01804" "DDX58_000011" "g.32481516del" "" "" "" "DDX58(NM_014314.3):c.1481-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32481518del" "" "likely benign" "" "0000537914" "0" "30" "9" "32481516" "32481516" "dup" "0" "01804" "DDX58_000012" "g.32481516dup" "" "" "" "DDX58(NM_014314.3):c.1481-6dup (p.(=)), DDX58(NM_014314.4):c.1481-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32481518dup" "" "likely benign" "" "0000537916" "0" "30" "9" "32488005" "32488005" "subst" "4.87428E-5" "01804" "DDX58_000014" "g.32488005T>C" "" "" "" "DDX58(NM_014314.3):c.1150A>G (p.(Asn384Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32488007T>C" "" "likely benign" "" "0000537917" "0" "30" "9" "32488096" "32488096" "subst" "0.00262125" "01943" "DDX58_000015" "g.32488096G>A" "" "" "" "DDX58(NM_014314.3):c.1059C>T (p.N353=), DDX58(NM_014314.4):c.1059C>T (p.N353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32488098G>A" "" "likely benign" "" "0000537918" "0" "30" "9" "32488096" "32488096" "subst" "0.00262125" "02326" "DDX58_000015" "g.32488096G>A" "" "" "" "DDX58(NM_014314.3):c.1059C>T (p.N353=), DDX58(NM_014314.4):c.1059C>T (p.N353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32488098G>A" "" "likely benign" "" "0000537920" "0" "10" "9" "32489407" "32489407" "subst" "0.0017525" "01943" "DDX58_000017" "g.32489407T>C" "" "" "" "DDX58(NM_014314.3):c.734A>G (p.N245S), DDX58(NM_014314.4):c.734A>G (p.N245S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32489409T>C" "" "benign" "" "0000537922" "0" "30" "9" "32500832" "32500832" "subst" "0.00961374" "01804" "DDX58_000019" "g.32500832C>T" "" "" "" "DDX58(NM_014314.3):c.212G>A (p.(Arg71His)), RIGI(NM_014314.4):c.212G>A (p.R71H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32500834C>T" "" "likely benign" "" "0000537923" "0" "30" "9" "32500896" "32500896" "subst" "0" "01943" "DDX58_000020" "g.32500896G>C" "" "" "" "DDX58(NM_014314.3):c.148C>G (p.P50A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32500898G>C" "" "likely benign" "" "0000537924" "0" "30" "9" "32526156" "32526156" "subst" "0.000765835" "01943" "DDX58_000021" "g.32526156G>A" "" "" "" "DDX58(NM_014314.3):c.9C>T (p.T3=), DDX58(NM_014314.4):c.9C>T (p.T3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32526158G>A" "" "likely benign" "" "0000622251" "0" "50" "9" "32457245" "32457245" "subst" "0.000410202" "01943" "DDX58_000022" "g.32457245G>A" "" "" "" "DDX58(NM_014314.3):c.2653C>T (p.P885S, p.(Pro885Ser)), DDX58(NM_014314.4):c.2653C>T (p.P885S), RIGI(NM_014314.4):c.2653C>T (p.P885S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32457247G>A" "" "VUS" "" "0000622252" "0" "30" "9" "32526156" "32526156" "subst" "0.000765835" "02326" "DDX58_000021" "g.32526156G>A" "" "" "" "DDX58(NM_014314.3):c.9C>T (p.T3=), DDX58(NM_014314.4):c.9C>T (p.T3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32526158G>A" "" "likely benign" "" "0000656342" "0" "30" "9" "32492555" "32492555" "subst" "0.000175047" "02326" "DDX58_000023" "g.32492555G>C" "" "" "" "DDX58(NM_014314.4):c.424-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32492557G>C" "" "likely benign" "" "0000673993" "11" "50" "9" "32489403" "32489403" "subst" "0" "03695" "DDX58_000024" "g.32489403G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000678656" "0" "50" "9" "32492446" "32492446" "del" "0" "01943" "DDX58_000025" "g.32492446del" "" "" "" "DDX58(NM_014314.3):c.516delA (p.K172Nfs*17), DDX58(NM_014314.4):c.516delA (p.K172Nfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678657" "0" "30" "9" "32500832" "32500832" "subst" "0.00961374" "02325" "DDX58_000019" "g.32500832C>T" "" "" "" "DDX58(NM_014314.3):c.212G>A (p.(Arg71His)), RIGI(NM_014314.4):c.212G>A (p.R71H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690517" "0" "30" "9" "32487627" "32487627" "subst" "3.25457E-5" "02325" "DDX58_000026" "g.32487627A>G" "" "" "" "RIGI(NM_014314.4):c.1217T>C (p.I406T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722480" "0" "50" "9" "32457167" "32457167" "del" "0" "02325" "DDX58_000027" "g.32457167del" "" "" "" "RIGI(NM_014314.4):c.2733delT (p.H912Ifs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722481" "0" "50" "9" "32457172" "32457175" "del" "0" "02325" "DDX58_000028" "g.32457172_32457175del" "" "" "" "RIGI(NM_014314.4):c.2726_2729delAGGA (p.K909Tfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722482" "0" "50" "9" "32457174" "32457174" "subst" "0" "02325" "DDX58_000029" "g.32457174C>A" "" "" "" "RIGI(NM_014314.4):c.2724G>T (p.W908C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722483" "0" "30" "9" "32467764" "32467764" "subst" "5.47175E-5" "01943" "DDX58_000030" "g.32467764G>A" "" "" "" "DDX58(NM_014314.3):c.2181C>T (p.T727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722485" "0" "10" "9" "32488221" "32488222" "del" "0.000695033" "02326" "DDX58_000031" "g.32488221_32488222del" "" "" "" "DDX58(NM_014314.4):c.954-21_954-20delGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722486" "0" "50" "9" "32526163" "32526163" "subst" "0" "02325" "DDX58_000032" "g.32526163A>C" "" "" "" "RIGI(NM_014314.4):c.2T>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000733976" "0" "70" "9" "32457418" "32457418" "subst" "0" "04011" "DDX58_000033" "g.32457418T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000804091" "0" "30" "9" "32472996" "32472996" "subst" "4.93291E-5" "02325" "DDX58_000034" "g.32472996C>T" "" "" "" "RIGI(NM_014314.4):c.1991G>A (p.R664H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852250" "0" "50" "9" "32477085" "32477085" "subst" "3.25198E-5" "01943" "DDX58_000037" "g.32477085C>T" "" "" "" "DDX58(NM_014314.3):c.1819G>A (p.E607K, p.(Glu607Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852251" "0" "30" "9" "32488219" "32488219" "subst" "4.51797E-5" "02326" "DDX58_000038" "g.32488219T>C" "" "" "" "DDX58(NM_014314.4):c.954-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861624" "0" "50" "9" "32457232" "32457232" "subst" "8.52889E-5" "01943" "DDX58_000035" "g.32457232A>G" "" "" "" "DDX58(NM_014314.3):c.2666T>C (p.I889T), DDX58(NM_014314.4):c.2666T>C (p.(Ile889Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861625" "0" "50" "9" "32476997" "32476997" "subst" "3.25494E-5" "01943" "DDX58_000036" "g.32476997G>C" "" "" "" "DDX58(NM_014314.3):c.1907C>G (p.T636S), RIGI(NM_014314.4):c.1907C>G (p.T636S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888805" "0" "50" "9" "32457245" "32457245" "subst" "0.000410202" "02326" "DDX58_000022" "g.32457245G>A" "" "" "" "DDX58(NM_014314.3):c.2653C>T (p.P885S, p.(Pro885Ser)), DDX58(NM_014314.4):c.2653C>T (p.P885S), RIGI(NM_014314.4):c.2653C>T (p.P885S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888806" "0" "30" "9" "32466325" "32466325" "subst" "4.46969E-5" "02326" "DDX58_000039" "g.32466325C>T" "" "" "" "DDX58(NM_014314.4):c.2300G>A (p.R767H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888807" "0" "30" "9" "32466361" "32466361" "subst" "2.43815E-5" "02325" "DDX58_000040" "g.32466361A>G" "" "" "" "RIGI(NM_014314.4):c.2264T>C (p.M755T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888808" "0" "30" "9" "32480254" "32480254" "subst" "0.00125737" "02326" "DDX58_000041" "g.32480254G>A" "" "" "" "DDX58(NM_014314.4):c.1737C>T (p.F579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888809" "0" "30" "9" "32488794" "32488794" "subst" "0.00127751" "02326" "DDX58_000042" "g.32488794C>A" "" "" "" "DDX58(NM_014314.4):c.891G>T (p.A297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888810" "0" "30" "9" "32488907" "32488907" "dup" "0" "02326" "DDX58_000043" "g.32488907dup" "" "" "" "DDX58(NM_014314.4):c.800-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888811" "0" "10" "9" "32489407" "32489407" "subst" "0.0017525" "02326" "DDX58_000017" "g.32489407T>C" "" "" "" "DDX58(NM_014314.3):c.734A>G (p.N245S), DDX58(NM_014314.4):c.734A>G (p.N245S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888812" "0" "30" "9" "32493888" "32493888" "subst" "0.00120668" "02326" "DDX58_000044" "g.32493888T>C" "" "" "" "DDX58(NM_014314.4):c.294A>G (p.E98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888813" "0" "50" "9" "32500931" "32500931" "subst" "8.16553E-6" "02325" "DDX58_000045" "g.32500931A>G" "" "" "" "RIGI(NM_014314.4):c.113T>C (p.V38A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909328" "11" "50" "9" "32481364" "32481364" "subst" "0" "00006" "DDX58_000046" "g.32481364G>A" "" "{PMID:Inoue 2022:36512060}, {DOI:Inoue 2022:10.1007/s00401-022-02530-4}" "" "" "" "Germline" "" "" "0" "" "" "g.32481366G>A" "" "VUS" "" "0000913143" "0" "50" "9" "32457245" "32457245" "subst" "0.000410202" "02325" "DDX58_000022" "g.32457245G>A" "" "" "" "DDX58(NM_014314.3):c.2653C>T (p.P885S, p.(Pro885Ser)), DDX58(NM_014314.4):c.2653C>T (p.P885S), RIGI(NM_014314.4):c.2653C>T (p.P885S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913144" "0" "30" "9" "32481339" "32481339" "subst" "0.00872071" "01804" "DDX58_000047" "g.32481339C>T" "" "" "" "DDX58(NM_014314.3):c.1637G>A (p.(Arg546Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913145" "0" "50" "9" "32485278" "32485278" "subst" "5.74779E-5" "02326" "DDX58_000048" "g.32485278C>T" "" "" "" "DDX58(NM_014314.4):c.1376-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925033" "0" "50" "9" "32459479" "32459479" "subst" "4.10206E-6" "01804" "DDX58_000049" "g.32459479T>C" "" "" "" "DDX58(NM_014314.3):c.2371A>G (p.(Arg791Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925034" "0" "30" "9" "32472965" "32472965" "subst" "0.000162409" "02326" "DDX58_000050" "g.32472965A>G" "" "" "" "DDX58(NM_014314.4):c.2014+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925035" "0" "30" "9" "32477085" "32477085" "subst" "3.25198E-5" "01804" "DDX58_000037" "g.32477085C>T" "" "" "" "DDX58(NM_014314.3):c.1819G>A (p.E607K, p.(Glu607Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929590" "0" "30" "9" "32466278" "32466278" "subst" "0.000689379" "02326" "DDX58_000051" "g.32466278G>A" "" "" "" "DDX58(NM_014314.4):c.2337+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929591" "0" "50" "9" "32492446" "32492446" "del" "0" "02326" "DDX58_000025" "g.32492446del" "" "" "" "DDX58(NM_014314.3):c.516delA (p.K172Nfs*17), DDX58(NM_014314.4):c.516delA (p.K172Nfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949269" "0" "10" "9" "32481516" "32481516" "dup" "0" "02326" "DDX58_000012" "g.32481516dup" "" "" "" "DDX58(NM_014314.3):c.1481-6dup (p.(=)), DDX58(NM_014314.4):c.1481-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965368" "0" "50" "9" "32480222" "32480222" "subst" "6.13392E-5" "01804" "DDX58_000052" "g.32480222A>C" "" "" "" "DDX58(NM_014314.3):c.1769T>G (p.(Phe590Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965369" "0" "50" "9" "32481444" "32481444" "subst" "0" "02325" "DDX58_000053" "g.32481444T>G" "" "" "" "RIGI(NM_014314.4):c.1532A>C (p.Q511P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978671" "0" "30" "9" "32457232" "32457232" "subst" "8.52889E-5" "01804" "DDX58_000035" "g.32457232A>G" "" "" "" "DDX58(NM_014314.3):c.2666T>C (p.I889T), DDX58(NM_014314.4):c.2666T>C (p.(Ile889Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997831" "0" "30" "9" "32457245" "32457245" "subst" "0.000410202" "01804" "DDX58_000022" "g.32457245G>A" "" "" "" "DDX58(NM_014314.3):c.2653C>T (p.P885S, p.(Pro885Ser)), DDX58(NM_014314.4):c.2653C>T (p.P885S), RIGI(NM_014314.4):c.2653C>T (p.P885S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997832" "0" "50" "9" "32459373" "32459373" "subst" "4.0779E-6" "01804" "DDX58_000054" "g.32459373A>G" "" "" "" "DDX58(NM_014314.3):c.2477T>C (p.(Ile826Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997833" "0" "30" "9" "32466309" "32466309" "subst" "0" "01804" "DDX58_000055" "g.32466309G>C" "" "" "" "DDX58(NM_014314.3):c.2316C>G (p.(Asp772Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997834" "0" "50" "9" "32467879" "32467879" "subst" "0" "01804" "DDX58_000056" "g.32467879C>T" "" "" "" "DDX58(NM_014314.3):c.2066G>A (p.(Gly689Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025663" "0" "30" "9" "32476997" "32476997" "subst" "3.25494E-5" "02325" "DDX58_000036" "g.32476997G>C" "" "" "" "DDX58(NM_014314.3):c.1907C>G (p.T636S), RIGI(NM_014314.4):c.1907C>G (p.T636S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037483" "0" "30" "9" "32481515" "32481516" "dup" "0" "01804" "DDX58_000057" "g.32481515_32481516dup" "" "" "" "DDX58(NM_014314.4):c.1481-7_1481-6dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037484" "0" "50" "9" "32487606" "32487606" "subst" "0" "01804" "DDX58_000058" "g.32487606C>T" "" "" "" "DDX58(NM_014314.4):c.1238G>A (p.(Gly413Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 DDX58 ## Count = 66 "{{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}}" "0000058544" "00006253" "90" "1118" "0" "1118" "0" "c.1118A>C" "r.(?)" "p.(Glu373Ala)" "8" "0000058545" "00006253" "90" "803" "0" "803" "0" "c.803G>T" "r.(?)" "p.(Cys268Phe)" "7" "0000252180" "00006253" "30" "242" "-5" "242" "-5" "c.242-5T>C" "r.spl?" "p.?" "" "0000537907" "00006253" "10" "2747" "0" "2747" "0" "c.2747T>C" "r.(?)" "p.(Ile916Thr)" "" "0000537908" "00006253" "10" "2338" "-7" "2338" "-7" "c.2338-7G>A" "r.(=)" "p.(=)" "" "0000537909" "00006253" "30" "2338" "-7" "2338" "-7" "c.2338-7G>A" "r.(=)" "p.(=)" "" "0000537910" "00006253" "30" "2193" "0" "2193" "0" "c.2193A>G" "r.(?)" "p.(Gly731=)" "" "0000537911" "00006253" "50" "2107" "0" "2107" "0" "c.2107G>A" "r.(?)" "p.(Gly703Ser)" "" "0000537912" "00006253" "10" "1611" "0" "1611" "0" "c.1611C>T" "r.(?)" "p.(Ala537=)" "" "0000537913" "00006253" "30" "1481" "-6" "1481" "-6" "c.1481-6del" "r.(=)" "p.(=)" "" "0000537914" "00006253" "30" "1481" "-6" "1481" "-6" "c.1481-6dup" "r.(=)" "p.(=)" "" "0000537916" "00006253" "30" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Asn384Asp)" "" "0000537917" "00006253" "30" "1059" "0" "1059" "0" "c.1059C>T" "r.(?)" "p.(Asn353=)" "" "0000537918" "00006253" "30" "1059" "0" "1059" "0" "c.1059C>T" "r.(?)" "p.(Asn353=)" "" "0000537920" "00006253" "10" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Asn245Ser)" "" "0000537922" "00006253" "30" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "" "0000537923" "00006253" "30" "148" "0" "148" "0" "c.148C>G" "r.(?)" "p.(Pro50Ala)" "" "0000537924" "00006253" "30" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Thr3=)" "" "0000622251" "00006253" "50" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Pro885Ser)" "" "0000622252" "00006253" "30" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Thr3=)" "" "0000656342" "00006253" "30" "424" "-19" "424" "-19" "c.424-19C>G" "r.(=)" "p.(=)" "" "0000673993" "00006253" "50" "738" "0" "738" "0" "c.738C>A" "r.(?)" "p.(Tyr246*)" "" "0000678656" "00006253" "50" "516" "0" "516" "0" "c.516del" "r.(?)" "p.(Lys172AsnfsTer17)" "" "0000678657" "00006253" "30" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "" "0000690517" "00006253" "30" "1217" "0" "1217" "0" "c.1217T>C" "r.(?)" "p.(Ile406Thr)" "" "0000722480" "00006253" "50" "2733" "0" "2733" "0" "c.2733del" "r.(?)" "p.(His912Ilefs*26)" "" "0000722481" "00006253" "50" "2726" "0" "2729" "0" "c.2726_2729del" "r.(?)" "p.(Lys909Thrfs*28)" "" "0000722482" "00006253" "50" "2724" "0" "2724" "0" "c.2724G>T" "r.(?)" "p.(Trp908Cys)" "" "0000722483" "00006253" "30" "2181" "0" "2181" "0" "c.2181C>T" "r.(?)" "p.(Thr727=)" "" "0000722485" "00006253" "10" "954" "-21" "954" "-20" "c.954-21_954-20del" "r.(=)" "p.(=)" "" "0000722486" "00006253" "50" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000733976" "00006253" "50" "2482" "-2" "2482" "-2" "c.2482-2A>T" "r.spl?" "p.?" "" "0000804091" "00006253" "30" "1991" "0" "1991" "0" "c.1991G>A" "r.(?)" "p.(Arg664His)" "" "0000852250" "00006253" "50" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Glu607Lys)" "" "0000852251" "00006253" "30" "954" "-18" "954" "-18" "c.954-18A>G" "r.(=)" "p.(=)" "" "0000861624" "00006253" "50" "2666" "0" "2666" "0" "c.2666T>C" "r.(?)" "p.(Ile889Thr)" "" "0000861625" "00006253" "50" "1907" "0" "1907" "0" "c.1907C>G" "r.(?)" "p.(Thr636Ser)" "" "0000888805" "00006253" "50" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Pro885Ser)" "" "0000888806" "00006253" "30" "2300" "0" "2300" "0" "c.2300G>A" "r.(?)" "p.(Arg767His)" "" "0000888807" "00006253" "30" "2264" "0" "2264" "0" "c.2264T>C" "r.(?)" "p.(Met755Thr)" "" "0000888808" "00006253" "30" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.(Phe579=)" "" "0000888809" "00006253" "30" "891" "0" "891" "0" "c.891G>T" "r.(?)" "p.(Ala297=)" "" "0000888810" "00006253" "30" "800" "-17" "800" "-17" "c.800-17dup" "r.(=)" "p.(=)" "" "0000888811" "00006253" "10" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Asn245Ser)" "" "0000888812" "00006253" "30" "294" "0" "294" "0" "c.294A>G" "r.(?)" "p.(Glu98=)" "" "0000888813" "00006253" "50" "113" "0" "113" "0" "c.113T>C" "r.(?)" "p.(Val38Ala)" "" "0000909328" "00006253" "50" "1612" "0" "1612" "0" "c.1612C>T" "r.(=)" "p.(Leu538=)" "" "0000913143" "00006253" "50" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Pro885Ser)" "" "0000913144" "00006253" "30" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546Gln)" "" "0000913145" "00006253" "50" "1376" "-1" "1376" "-1" "c.1376-1G>A" "r.spl?" "p.?" "" "0000925033" "00006253" "50" "2371" "0" "2371" "0" "c.2371A>G" "r.(?)" "p.(Arg791Gly)" "" "0000925034" "00006253" "30" "2014" "8" "2014" "8" "c.2014+8T>C" "r.(=)" "p.(=)" "" "0000925035" "00006253" "30" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Glu607Lys)" "" "0000929590" "00006253" "30" "2337" "10" "2337" "10" "c.2337+10C>T" "r.(=)" "p.(=)" "" "0000929591" "00006253" "50" "516" "0" "516" "0" "c.516del" "r.(?)" "p.(Lys172AsnfsTer17)" "" "0000949269" "00006253" "10" "1481" "-6" "1481" "-6" "c.1481-6dup" "r.(=)" "p.(=)" "" "0000965368" "00006253" "50" "1769" "0" "1769" "0" "c.1769T>G" "r.(?)" "p.(Phe590Cys)" "" "0000965369" "00006253" "50" "1532" "0" "1532" "0" "c.1532A>C" "r.(?)" "p.(Gln511Pro)" "" "0000978671" "00006253" "30" "2666" "0" "2666" "0" "c.2666T>C" "r.(?)" "p.(Ile889Thr)" "" "0000997831" "00006253" "30" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Pro885Ser)" "" "0000997832" "00006253" "50" "2477" "0" "2477" "0" "c.2477T>C" "r.(?)" "p.(Ile826Thr)" "" "0000997833" "00006253" "30" "2316" "0" "2316" "0" "c.2316C>G" "r.(?)" "p.(Asp772Glu)" "" "0000997834" "00006253" "50" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Gly689Glu)" "" "0001025663" "00006253" "30" "1907" "0" "1907" "0" "c.1907C>G" "r.(?)" "p.(Thr636Ser)" "" "0001037483" "00006253" "30" "1481" "-7" "1481" "-6" "c.1481-7_1481-6dup" "r.(=)" "p.(=)" "" "0001037484" "00006253" "50" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Gly413Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000032416" "0000058544" "0000032417" "0000058545" "0000307365" "0000673993" "0000335525" "0000733976" "0000413864" "0000909328"