### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = XPO5) # 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}}" "XPO5" "exportin 5" "6" "p21.1" "unknown" "NG_051658.1" "UD_136018023109" "" "https://www.LOVD.nl/XPO5" "" "1" "17675" "57510" "607845" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/XPO5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-29 10:40:50" "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}}" "00022932" "XPO5" "exportin 5" "001" "NM_020750.2" "" "NP_065801.1" "" "" "" "-211" "5153" "3615" "43543812" "43490068" "" "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}}" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00165184" "" "" "" "1" "" "00006" "{PMID:Braun 2016:26878725}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "26878725-FamF1092Pat21" "00208599" "" "" "" "3" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam301" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00165184" "00399" "00208599" "05489" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00399, 05489 ## Count = 1 "{{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}}" "0000130060" "00399" "00165184" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nephrotic syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000166060" "00165184" "1" "00006" "00006" "2018-06-29 10:38:57" "" "" "SEQ" "DNA" "" "" "0000209648" "00208599" "1" "03131" "03131" "2018-12-11 17:20:48" "" "" "SEQ-NG-I" "DNA" "Blood" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000166060" "XPO5" ## 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 = 49 "{{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}}" "0000251121" "0" "10" "6" "43488144" "43488144" "subst" "0.00864678" "02326" "POLR1C_000005" "g.43488144A>G" "" "" "" "POLR1C(NM_203290.2):c.634A>G (p.(Met212Val)), POLR1C(NM_203290.4):c.634A>G (p.M212V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43520406A>G" "" "benign" "" "0000331040" "0" "30" "6" "43480181" "43480181" "subst" "0" "01804" "YIPF3_000001" "g.43480181C>G" "" "" "" "YIPF3(NM_015388.3):c.901G>C (p.(Glu301Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43512443C>G" "" "likely benign" "" "0000331041" "0" "50" "6" "43480277" "43480277" "subst" "0.00017213" "01804" "YIPF3_000002" "g.43480277C>T" "" "" "" "YIPF3(NM_015388.3):c.805G>A (p.(Val269Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43512539C>T" "" "VUS" "" "0000331042" "0" "50" "6" "43480937" "43480937" "subst" "2.03174E-5" "01804" "YIPF3_000003" "g.43480937C>T" "" "" "" "YIPF3(NM_015388.3):c.536G>A (p.(Arg179Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43513199C>T" "" "VUS" "" "0000331043" "0" "50" "6" "43483721" "43483723" "del" "0" "01804" "YIPF3_000004" "g.43483721_43483723del" "" "" "" "YIPF3(NM_015388.3):c.194_196del (p.(Asp65del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43515983_43515985del" "" "VUS" "" "0000331044" "0" "50" "6" "43484852" "43484852" "subst" "0" "01804" "POLR1C_000003" "g.43484852C>G" "" "" "" "POLR1C(NM_203290.2):c.5C>G (p.(Ala2Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43517114C>G" "" "VUS" "" "0000331045" "0" "50" "6" "43487514" "43487514" "subst" "0" "01804" "POLR1C_000004" "g.43487514C>T" "" "" "" "POLR1C(NM_203290.2):c.320C>T (p.(Ala107Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43519776C>T" "" "VUS" "" "0000336830" "0" "10" "6" "43488354" "43488354" "subst" "0.00926234" "02327" "POLR1C_000010" "g.43488354C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43520616C>T" "" "benign" "" "0000345584" "0" "50" "6" "43484869" "43484869" "subst" "4.06055E-6" "02327" "POLR1C_000008" "g.43484869G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43517131G>A" "" "VUS" "" "0000346001" "0" "10" "6" "43497064" "43497064" "subst" "0.0970528" "02327" "XPO5_000001" "g.43497064G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43529326G>A" "" "benign" "" "0000369927" "3" "90" "6" "43519109" "43519109" "subst" "1.21896E-5" "00006" "XPO5_000002" "g.43519109C>T" "" "{PMID:Braun 2016:26878725}" "" "" "" "Germline" "" "" "0" "" "" "g.43551372C>T" "" "pathogenic" "" "0000439821" "0" "50" "6" "43535018" "43535018" "subst" "0.0627312" "03131" "XPO5_000003" "g.43535018C>T" "" "" "" "" "" "Germline" "yes" "rs34324334" "0" "" "" "g.43567281C>T" "" "VUS" "" "0000528925" "0" "50" "6" "43483337" "43483337" "subst" "0" "01804" "POLR1C_000011" "g.43483337T>C" "" "" "" "YIPF3(NM_015388.3):c.391A>G (p.(Ser131Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43515599T>C" "" "VUS" "" "0000528926" "0" "30" "6" "43484855" "43484855" "subst" "0.000572542" "01943" "POLR1C_000012" "g.43484855C>T" "" "" "" "POLR1C(NM_203290.3):c.8C>T (p.A3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43517117C>T" "" "likely benign" "" "0000528927" "0" "50" "6" "43484912" "43484912" "subst" "0.000162425" "01943" "POLR1C_000013" "g.43484912G>A" "" "" "" "POLR1C(NM_001318876.1):c.65G>A (p.(Arg22His)), POLR1C(NM_203290.3):c.65G>A (p.R22H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43517174G>A" "" "VUS" "" "0000528928" "0" "30" "6" "43485090" "43485090" "subst" "0.000312665" "01943" "POLR1C_000014" "g.43485090C>T" "" "" "" "POLR1C(NM_001318876.1):c.116C>T (p.(Ala39Val)), POLR1C(NM_203290.3):c.116C>T (p.A39V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43517352C>T" "" "likely benign" "" "0000528929" "0" "50" "6" "43487816" "43487816" "subst" "0.000316782" "01943" "POLR1C_000015" "g.43487816G>A" "" "" "" "POLR1C(NM_203290.3):c.395G>A (p.G132D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520078G>A" "" "VUS" "" "0000528930" "0" "30" "6" "43488006" "43488006" "subst" "0.000199829" "01804" "POLR1C_000016" "g.43488006C>T" "" "" "" "POLR1C(NM_203290.2):c.503-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520268C>T" "" "likely benign" "" "0000528931" "0" "30" "6" "43488144" "43488144" "subst" "0.00864678" "01804" "POLR1C_000005" "g.43488144A>G" "" "" "" "POLR1C(NM_203290.2):c.634A>G (p.(Met212Val)), POLR1C(NM_203290.4):c.634A>G (p.M212V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520406A>G" "" "likely benign" "" "0000528933" "0" "50" "6" "43488515" "43488515" "subst" "4.06336E-6" "01943" "POLR1C_000018" "g.43488515A>G" "" "" "" "POLR1C(NM_203290.3):c.805+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520777A>G" "" "VUS" "" "0000610367" "0" "50" "6" "43487842" "43487842" "subst" "0.000633467" "01943" "POLR1C_000019" "g.43487842C>T" "" "" "" "POLR1C(NM_203290.2):c.421C>T (p.(Arg141Cys)), POLR1C(NM_203290.3):c.421C>T (p.R141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43520104C>T" "" "VUS" "" "0000610368" "0" "30" "6" "43488998" "43488998" "subst" "5.28198E-5" "01943" "POLR1C_000020" "g.43488998G>A" "" "" "" "POLR1C(NM_203290.3):c.1001G>A (p.R334Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43521260G>A" "" "likely benign" "" "0000655597" "0" "50" "6" "43484878" "43484878" "subst" "0" "01943" "POLR1C_000032" "g.43484878C>T" "" "" "" "POLR1C(NM_001363658.1):c.31C>T (p.R11W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43517140C>T" "" "VUS" "" "0000677784" "0" "50" "6" "43487122" "43487122" "subst" "0.000832413" "01943" "POLR1C_000033" "g.43487122A>G" "" "" "" "POLR1C(NM_001363658.1):c.193A>G (p.M65V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720955" "0" "90" "6" "43488700" "43488700" "subst" "0.000211159" "02329" "POLR1C_000006" "g.43488700G>A" "" "" "" "POLR1C(NM_001318876.1):c.836G>A (p.(Arg279Gln)), POLR1C(NM_203290.4):c.836G>A (p.R279Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720956" "0" "50" "6" "43521127" "43521127" "subst" "0" "02329" "XPO5_000004" "g.43521127G>A" "" "" "" "XPO5(NM_020750.3):c.1555C>T (p.R519*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802608" "0" "50" "6" "43484921" "43484921" "subst" "0.000207097" "01943" "POLR1C_000035" "g.43484921G>A" "" "" "" "POLR1C(NM_001363658.1):c.69+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802609" "0" "30" "6" "43487911" "43487911" "subst" "0.000207093" "01943" "POLR1C_000036" "g.43487911G>A" "" "" "" "POLR1C(NM_001363658.1):c.490G>A (p.V164M), POLR1C(NM_203290.2):c.490G>A (p.(Val164Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802610" "0" "50" "6" "43488729" "43488729" "subst" "1.21819E-5" "01943" "POLR1C_000037" "g.43488729C>T" "" "" "" "POLR1C(NM_001363658.1):c.865C>T (p.R289W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851239" "0" "30" "6" "43487453" "43487453" "subst" "2.84273E-5" "01804" "POLR1C_000038" "g.43487453A>G" "" "" "" "POLR1C(NM_203290.2):c.259A>G (p.(Met87Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851240" "0" "10" "6" "43540302" "43540302" "subst" "0.00312749" "02326" "GTPBP2_000021" "g.43540302C>T" "" "" "" "XPO5(NM_020750.3):c.241G>A (p.G81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860360" "0" "30" "6" "43487911" "43487911" "subst" "0.000207093" "01804" "POLR1C_000036" "g.43487911G>A" "" "" "" "POLR1C(NM_001363658.1):c.490G>A (p.V164M), POLR1C(NM_203290.2):c.490G>A (p.(Val164Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887263" "0" "50" "6" "43484915" "43484915" "subst" "8.1213E-6" "01804" "POLR1C_000039" "g.43484915A>G" "" "" "" "POLR1C(NM_203290.2):c.68A>G (p.(Asn23Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887264" "0" "70" "6" "43488700" "43488700" "subst" "0.000211159" "01804" "POLR1C_000006" "g.43488700G>A" "" "" "" "POLR1C(NM_001318876.1):c.836G>A (p.(Arg279Gln)), POLR1C(NM_203290.4):c.836G>A (p.R279Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912523" "0" "30" "6" "43528647" "43528647" "subst" "0.00263693" "02326" "XPO5_000005" "g.43528647T>G" "" "" "" "XPO5(NM_020750.3):c.1095+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924516" "0" "30" "6" "43484912" "43484912" "subst" "0.000162425" "01804" "POLR1C_000013" "g.43484912G>A" "" "" "" "POLR1C(NM_001318876.1):c.65G>A (p.(Arg22His)), POLR1C(NM_203290.3):c.65G>A (p.R22H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924517" "0" "30" "6" "43485090" "43485090" "subst" "0.000312665" "01804" "POLR1C_000014" "g.43485090C>T" "" "" "" "POLR1C(NM_001318876.1):c.116C>T (p.(Ala39Val)), POLR1C(NM_203290.3):c.116C>T (p.A39V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924518" "0" "30" "6" "43498523" "43498523" "subst" "0.000411352" "01804" "POLR1C_000040" "g.43498523T>C" "" "" "" "XPO5(NM_020750.2):c.2580A>G (p.(Gln860=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948711" "0" "30" "6" "43519174" "43519174" "subst" "0.00185831" "02326" "XPO5_000006" "g.43519174T>C" "" "" "" "XPO5(NM_020750.3):c.1589A>G (p.D530G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977262" "0" "50" "6" "43485105" "43485105" "subst" "0" "01804" "POLR1C_000044" "g.43485105G>A" "" "" "" "POLR1C(NM_203290.4):c.131G>A (p.(Arg44His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977263" "0" "50" "6" "43488793" "43488793" "subst" "8.12143E-6" "01804" "POLR1C_000045" "g.43488793A>G" "" "" "" "POLR1C(NM_203290.2):c.922+7A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995782" "0" "50" "6" "43487842" "43487842" "subst" "0.000633467" "01804" "POLR1C_000019" "g.43487842C>T" "" "" "" "POLR1C(NM_203290.2):c.421C>T (p.(Arg141Cys)), POLR1C(NM_203290.3):c.421C>T (p.R141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025230" "0" "50" "6" "43516068" "43516068" "subst" "4.06418E-6" "02325" "XPO5_000007" "g.43516068G>A" "" "" "" "XPO5(NM_020750.3):c.1990C>T (p.R664C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035801" "0" "30" "6" "43488915" "43488915" "subst" "1.62437E-5" "01804" "POLR1C_000046" "g.43488915C>T" "" "" "" "POLR1C(NM_203290.4):c.923-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052364" "0" "50" "6" "43487830" "43487830" "subst" "4.06075E-6" "01804" "POLR1C_000047" "g.43487830A>G" "" "" "" "POLR1C(NM_203290.4):c.409A>G (p.(Thr137Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052365" "0" "50" "6" "43488108" "43488108" "subst" "7.32571E-5" "01804" "POLR1C_000048" "g.43488108G>A" "" "" "" "POLR1C(NM_203290.4):c.598G>A (p.(Ala200Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052366" "0" "90" "6" "43488700" "43488700" "subst" "0.000211159" "02327" "POLR1C_000006" "g.43488700G>A" "" "" "" "POLR1C(NM_001318876.1):c.836G>A (p.(Arg279Gln)), POLR1C(NM_203290.4):c.836G>A (p.R279Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052367" "0" "50" "6" "43488709" "43488709" "subst" "0.000243641" "01804" "POLR1C_000049" "g.43488709C>G" "" "" "" "POLR1C(NM_203290.4):c.845C>G (p.(Thr282Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052368" "0" "70" "6" "43488771" "43488771" "subst" "8.12156E-6" "02327" "POLR1C_000050" "g.43488771C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 XPO5 ## Count = 49 "{{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}}" "0000251121" "00022932" "10" "7077" "0" "7077" "0" "c.*3462T>C" "r.(=)" "p.(=)" "" "0000331040" "00022932" "30" "15040" "0" "15040" "0" "c.*11425G>C" "r.(=)" "p.(=)" "" "0000331041" "00022932" "50" "14944" "0" "14944" "0" "c.*11329G>A" "r.(=)" "p.(=)" "" "0000331042" "00022932" "50" "14284" "0" "14284" "0" "c.*10669G>A" "r.(=)" "p.(=)" "" "0000331043" "00022932" "50" "11500" "0" "11502" "0" "c.*7885_*7887del" "r.(=)" "p.(=)" "" "0000331044" "00022932" "50" "10369" "0" "10369" "0" "c.*6754G>C" "r.(=)" "p.(=)" "" "0000331045" "00022932" "50" "7707" "0" "7707" "0" "c.*4092G>A" "r.(=)" "p.(=)" "" "0000336830" "00022932" "10" "6867" "0" "6867" "0" "c.*3252G>A" "r.(=)" "p.(=)" "" "0000345584" "00022932" "50" "10352" "0" "10352" "0" "c.*6737C>T" "r.(=)" "p.(=)" "" "0000346001" "00022932" "10" "2678" "-401" "2678" "-401" "c.2678-401C>T" "r.(=)" "p.(=)" "" "0000369927" "00022932" "90" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "15" "0000439821" "00022932" "50" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Ser241Asn)" "" "0000528925" "00022932" "50" "11884" "0" "11884" "0" "c.*8269A>G" "r.(=)" "p.(=)" "" "0000528926" "00022932" "30" "10366" "0" "10366" "0" "c.*6751G>A" "r.(=)" "p.(=)" "" "0000528927" "00022932" "50" "10309" "0" "10309" "0" "c.*6694C>T" "r.(=)" "p.(=)" "" "0000528928" "00022932" "30" "10131" "0" "10131" "0" "c.*6516G>A" "r.(=)" "p.(=)" "" "0000528929" "00022932" "50" "7405" "0" "7405" "0" "c.*3790C>T" "r.(=)" "p.(=)" "" "0000528930" "00022932" "30" "7215" "0" "7215" "0" "c.*3600G>A" "r.(=)" "p.(=)" "" "0000528931" "00022932" "30" "7077" "0" "7077" "0" "c.*3462T>C" "r.(=)" "p.(=)" "" "0000528933" "00022932" "50" "6706" "0" "6706" "0" "c.*3091T>C" "r.(=)" "p.(=)" "" "0000610367" "00022932" "50" "7379" "0" "7379" "0" "c.*3764G>A" "r.(=)" "p.(=)" "" "0000610368" "00022932" "30" "6223" "0" "6223" "0" "c.*2608C>T" "r.(=)" "p.(=)" "" "0000655597" "00022932" "50" "10343" "0" "10343" "0" "c.*6728G>A" "r.(=)" "p.(=)" "" "0000677784" "00022932" "50" "8099" "0" "8099" "0" "c.*4484T>C" "r.(=)" "p.(=)" "" "0000720955" "00022932" "90" "6521" "0" "6521" "0" "c.*2906C>T" "r.(=)" "p.(=)" "" "0000720956" "00022932" "50" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Arg519Ter)" "" "0000802608" "00022932" "50" "10300" "0" "10300" "0" "c.*6685C>T" "r.(=)" "p.(=)" "" "0000802609" "00022932" "30" "7310" "0" "7310" "0" "c.*3695C>T" "r.(=)" "p.(=)" "" "0000802610" "00022932" "50" "6492" "0" "6492" "0" "c.*2877G>A" "r.(=)" "p.(=)" "" "0000851239" "00022932" "30" "7768" "0" "7768" "0" "c.*4153T>C" "r.(=)" "p.(=)" "" "0000851240" "00022932" "10" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Gly81Ser)" "" "0000860360" "00022932" "30" "7310" "0" "7310" "0" "c.*3695C>T" "r.(=)" "p.(=)" "" "0000887263" "00022932" "50" "10306" "0" "10306" "0" "c.*6691T>C" "r.(=)" "p.(=)" "" "0000887264" "00022932" "70" "6521" "0" "6521" "0" "c.*2906C>T" "r.(=)" "p.(=)" "" "0000912523" "00022932" "30" "1095" "14" "1095" "14" "c.1095+14A>C" "r.(=)" "p.(=)" "" "0000924516" "00022932" "30" "10309" "0" "10309" "0" "c.*6694C>T" "r.(=)" "p.(=)" "" "0000924517" "00022932" "30" "10131" "0" "10131" "0" "c.*6516G>A" "r.(=)" "p.(=)" "" "0000924518" "00022932" "30" "2580" "0" "2580" "0" "c.2580A>G" "r.(?)" "p.(Gln860=)" "" "0000948711" "00022932" "30" "1589" "0" "1589" "0" "c.1589A>G" "r.(?)" "p.(Asp530Gly)" "" "0000977262" "00022932" "50" "10116" "0" "10116" "0" "c.*6501C>T" "r.(=)" "p.(=)" "" "0000977263" "00022932" "50" "6428" "0" "6428" "0" "c.*2813T>C" "r.(=)" "p.(=)" "" "0000995782" "00022932" "50" "7379" "0" "7379" "0" "c.*3764G>A" "r.(=)" "p.(=)" "" "0001025230" "00022932" "50" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Arg664Cys)" "" "0001035801" "00022932" "30" "6306" "0" "6306" "0" "c.*2691G>A" "r.(=)" "p.(=)" "" "0001052364" "00022932" "50" "7391" "0" "7391" "0" "c.*3776T>C" "r.(=)" "p.(=)" "" "0001052365" "00022932" "50" "7113" "0" "7113" "0" "c.*3498C>T" "r.(=)" "p.(=)" "" "0001052366" "00022932" "90" "6521" "0" "6521" "0" "c.*2906C>T" "r.(=)" "p.(=)" "" "0001052367" "00022932" "50" "6512" "0" "6512" "0" "c.*2897G>C" "r.(=)" "p.(=)" "" "0001052368" "00022932" "70" "6450" "0" "6450" "0" "c.*2835G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000166060" "0000369927" "0000209648" "0000439821"