### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CPOX) # 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}}" "CPOX" "coproporphyrinogen oxidase" "3" "q12" "unknown" "LRG_1077" "UD_132118233902" "" "https://www.LOVD.nl/CPOX" "" "1" "2321" "1371" "612732" "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/CPOX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-25 16:59:36" "00000" "2025-08-19 12:25:02" ## 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}}" "00005617" "CPOX" "coproporphyrinogen oxidase" "001" "NM_000097.5" "" "NP_000088.3" "" "" "" "-107" "2602" "1365" "98312455" "98298290" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "01264" "HCP" "coproporphyria, hereditary" "AD;AR" "121300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CPOX" "01264" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00183216" "" "" "" "1" "" "02584" "" "" "" "" "" "" "0" "" "" "" "" "00183384" "" "" "" "1" "" "02584" "" "" "" "" "" "" "0" "" "" "" "" "00183387" "" "" "" "1" "" "02584" "" "" "" "" "" "" "0" "" "" "" "" "00183397" "" "" "" "1" "" "02584" "" "" "" "" "" "" "0" "" "" "" "" "00183398" "" "" "" "1" "" "02584" "" "" "" "" "" "" "0" "" "" "" "" "00183399" "" "" "" "1" "" "02584" "" "" "" "" "" "" "0" "" "" "" "" "00183400" "" "" "" "1" "" "02584" "" "" "" "" "" "" "0" "" "" "" "" "00293489" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293490" "" "" "" "107" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304963" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00395614" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3055" "00461028" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00466041" "" "" "" "1" "" "04866" "" "" "M" "" "Hong Kong" "" "" "" "" "Chinese" "086C" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00183216" "01264" "00183384" "01264" "00183387" "01264" "00183397" "01264" "00183398" "01264" "00183399" "01264" "00183400" "01264" "00293489" "00198" "00293490" "00198" "00304963" "00198" "00395614" "04214" "00461028" "00198" "00466041" "00291" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00291, 01264, 04214 ## Count = 8 "{{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}}" "0000143968" "01264" "00183216" "02584" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144110" "01264" "00183384" "02584" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144111" "01264" "00183387" "02584" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144112" "01264" "00183397" "02584" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144113" "01264" "00183398" "02584" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144114" "01264" "00183399" "02584" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000288812" "04214" "00395614" "00000" "Familial, autosomal dominant" "" "cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency" "" "" "" "" "" "" "" "" "retinitis pigmentosa, intellectual disability, renal abnormalities" "" "" "0000351425" "00291" "00466041" "04866" "Unknown" "6y-15y" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184340" "00183216" "1" "02584" "02584" "2018-10-25 09:29:56" "" "" "SEQ" "DNA" "" "" "0000184347" "00183384" "1" "02584" "02584" "2018-10-25 11:06:21" "" "" "SEQ" "DNA" "" "" "0000184351" "00183387" "1" "02584" "02584" "2018-10-25 11:58:43" "" "" "SEQ" "DNA" "" "" "0000184365" "00183397" "1" "02584" "02584" "2018-10-25 13:37:07" "" "" "SEQ" "DNA" "" "" "0000184366" "00183398" "1" "02584" "02584" "2018-10-25 14:05:43" "" "" "SEQ" "DNA" "" "" "0000184367" "00183399" "1" "02584" "02584" "2018-10-25 14:29:08" "" "" "SEQ" "DNA" "" "" "0000184368" "00183400" "1" "02584" "02584" "2018-10-25 14:56:46" "" "" "SEQ" "DNA" "" "" "0000294657" "00293489" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294658" "00293490" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306092" "00304963" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000396852" "00395614" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000462660" "00461028" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000467694" "00466041" "1" "04866" "04866" "2025-07-13 10:23:32" "" "" "MS;SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000184340" "CPOX" "0000184347" "CPOX" "0000184351" "CPOX" "0000184365" "CPOX" "0000184366" "CPOX" "0000184367" "CPOX" "0000184368" "CPOX" "0000396852" "IMPG2" "0000462660" "CPOX" ## 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 = 38 "{{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}}" "0000264971" "0" "10" "3" "98304403" "98304403" "subst" "0.0220115" "02330" "CPOX_000002" "g.98304403G>A" "" "" "" "CPOX(NM_000097.7):c.1054C>T (p.R352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98585559G>A" "" "benign" "" "0000264972" "0" "10" "3" "98312184" "98312184" "subst" "0.00843373" "02330" "CPOX_000006" "g.98312184G>A" "" "" "" "CPOX(NM_000097.7):c.165C>T (p.G55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98593340G>A" "" "benign" "" "0000264973" "0" "10" "3" "98307696" "98307696" "subst" "0.16807" "02330" "CPOX_000005" "g.98307696T>G" "" "" "" "CPOX(NM_000097.7):c.814A>C (p.N272H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98588852T>G" "" "benign" "" "0000264974" "0" "10" "3" "98307630" "98307630" "subst" "0.109654" "02330" "CPOX_000004" "g.98307630C>T" "" "" "" "CPOX(NM_000097.7):c.880G>A (p.V294I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98588786C>T" "" "benign" "" "0000264975" "0" "10" "3" "98304467" "98304467" "subst" "0.702441" "02330" "CPOX_000003" "g.98304467T>C" "" "" "" "CPOX(NM_000097.7):c.990A>G (p.E330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98585623T>C" "" "benign" "" "0000267106" "0" "10" "3" "98307696" "98307696" "subst" "0.16807" "02325" "CPOX_000005" "g.98307696T>G" "" "" "" "CPOX(NM_000097.7):c.814A>C (p.N272H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98588852T>G" "" "benign" "" "0000267107" "0" "10" "3" "98304467" "98304467" "subst" "0.702441" "02325" "CPOX_000003" "g.98304467T>C" "" "" "" "CPOX(NM_000097.7):c.990A>G (p.E330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98585623T>C" "" "benign" "" "0000274364" "0" "90" "3" "98299547" "98299547" "subst" "0" "01943" "CPOX_000001" "g.98299547G>A" "" "" "" "CPOX(NM_000097.7):c.1345C>T (p.P449S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98580703G>A" "" "pathogenic" "" "0000274365" "0" "10" "3" "98307696" "98307696" "subst" "0.16807" "01943" "CPOX_000005" "g.98307696T>G" "" "" "" "CPOX(NM_000097.7):c.814A>C (p.N272H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98588852T>G" "" "benign" "" "0000274366" "0" "10" "3" "98304467" "98304467" "subst" "0.702441" "01943" "CPOX_000003" "g.98304467T>C" "" "" "" "CPOX(NM_000097.7):c.990A>G (p.E330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98585623T>C" "" "benign" "" "0000408384" "0" "90" "3" "98312319" "98312319" "del" "0" "02584" "CPOX_000007" "g.98312319del" "" "" "" "32delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98593475del" "" "pathogenic" "" "0000408389" "0" "90" "3" "98312319" "98312319" "del" "0" "02584" "CPOX_000007" "g.98312319del" "" "" "" "32delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98593475del" "" "pathogenic" "" "0000408394" "0" "90" "3" "98309570" "98309570" "subst" "8.12308E-6" "02584" "CPOX_000008" "g.98309570A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98590726A>T" "" "pathogenic" "" "0000408408" "0" "90" "3" "98307687" "98307687" "subst" "0" "02584" "CPOX_000009" "g.98307687A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98588843A>G" "" "pathogenic" "" "0000408411" "0" "90" "3" "98304453" "98304455" "del" "0" "02584" "CPOX_000010" "g.98304453_98304455del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98585609_98585611del" "" "pathogenic" "" "0000408412" "0" "90" "3" "98304362" "98304362" "subst" "0" "02584" "CPOX_000011" "g.98304362G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98585518G>C" "" "pathogenic" "" "0000408413" "0" "90" "3" "98304358" "98304358" "del" "0" "02584" "CPOX_000012" "g.98304358del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98585514del" "" "pathogenic" "" "0000520843" "0" "90" "3" "98304477" "98304477" "subst" "0" "01943" "CPOX_000013" "g.98304477T>C" "" "" "" "CPOX(NM_000097.7):c.980A>G (p.H327R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98585633T>C" "" "pathogenic" "" "0000520844" "0" "10" "3" "98312012" "98312012" "subst" "0.00230014" "01943" "CPOX_000014" "g.98312012G>A" "" "" "" "CPOX(NM_000097.7):c.337C>T (p.L113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98593168G>A" "" "benign" "" "0000520845" "0" "10" "3" "98312316" "98312316" "subst" "0.0224401" "02330" "CPOX_000015" "g.98312316G>A" "" "" "" "CPOX(NM_000097.7):c.33C>T (p.G11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98593472G>A" "" "benign" "" "0000651346" "1" "90" "3" "98299553" "98299553" "subst" "0.000399622" "03575" "CPOX_000016" "g.98299553G>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs28931603}" "Germline" "" "rs28931603" "0" "" "" "g.98580709G>A" "" "pathogenic" "" "0000651347" "1" "10" "3" "98304403" "98304403" "subst" "0.0220115" "03575" "CPOX_000002" "g.98304403G>A" "107/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "107 heterozygous; {DB:CLININrs11921054}" "Germline" "" "rs11921054" "0" "" "" "g.98585559G>A" "" "benign" "" "0000655033" "0" "50" "3" "98312171" "98312171" "subst" "0.00037114" "01943" "CPOX_000017" "g.98312171G>C" "" "" "" "CPOX(NM_000097.7):c.178C>G (p.R60G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98593327G>C" "" "VUS" "" "0000669780" "3" "10" "3" "98304403" "98304403" "subst" "0.0220115" "03575" "CPOX_000002" "g.98304403G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs11921054}" "Germline" "" "rs11921054" "0" "" "" "g.98585559G>A" "" "benign" "" "0000719654" "0" "50" "3" "98300242" "98300242" "subst" "1.62446E-5" "01943" "CPOX_000018" "g.98300242T>C" "" "" "" "CPOX(NM_000097.7):c.1277+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719655" "0" "30" "3" "98311954" "98311954" "subst" "0.000466322" "02325" "CPOX_000019" "g.98311954G>A" "" "" "" "CPOX(NM_000097.7):c.395C>T (p.A132V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801403" "0" "30" "3" "98309944" "98309944" "subst" "0.000308627" "01943" "CPOX_000020" "g.98309944C>T" "" "" "" "CPOX(NM_000097.7):c.612G>A (p.G204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000828551" "0" "50" "3" "97483365" "113953480" "del" "0" "00000" "IMPG2_000140" "g.97483365_113953480del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous" "no gene indicated in publication!" "Unknown" "?" "" "0" "" "" "g.97764521_114234636del" "" "VUS" "ACMG" "0000886026" "0" "30" "3" "98311784" "98311784" "subst" "0.00172121" "02330" "CPOX_000021" "g.98311784C>T" "" "" "" "CPOX(NM_000097.7):c.556+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924014" "0" "10" "3" "98304268" "98304268" "subst" "0.00226717" "02326" "CPOX_000022" "g.98304268G>A" "" "" "" "CPOX(NM_000097.7):c.1172+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924015" "0" "10" "3" "98312012" "98312012" "subst" "0.00230014" "02326" "CPOX_000014" "g.98312012G>A" "" "" "" "CPOX(NM_000097.7):c.337C>T (p.L113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976020" "0" "50" "3" "98304319" "98304319" "subst" "7.72063E-5" "01804" "CPOX_000023" "g.98304319G>C" "" "" "" "CPOX(NM_000097.7):c.1138C>G (p.(Gln380Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993965" "0" "30" "3" "98304349" "98304349" "subst" "2.4374E-5" "01804" "CPOX_000024" "g.98304349T>C" "" "" "" "CPOX(NM_000097.5):c.1108A>G (p.(Lys370Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021370" "0" "90" "3" "98309949" "98309949" "subst" "0" "03779" "CPOX_000025" "g.98309949C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1185422267" "0" "" "" "" "" "pathogenic" "" "0001022187" "0" "50" "3" "98300242" "98300242" "subst" "1.62446E-5" "04796" "CPOX_000018" "g.98300242T>C" "" "" "" "" "effect on RNA inclusion of intron sequences" "Germline/De novo (untested)" "" "" "0" "" "" "g.98581398T>C" "" "VUS" "" "0001034213" "0" "50" "3" "98312176" "98312176" "subst" "0" "01804" "CPOX_000026" "g.98312176T>C" "" "" "" "CPOX(NM_000097.7):c.173A>G (p.(Gln58Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046914" "0" "50" "3" "98312408" "98312408" "subst" "0" "04866" "CPOX_000027" "g.98312408C>T" "1/12" "" "" "" "" "De novo" "-" "" "0" "" "" "g.98593564C>T" "" "VUS" "ACMG" "0001047442" "0" "90" "3" "98309548" "98309548" "subst" "0" "03779" "CPOX_000028" "g.98309548T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 CPOX ## Count = 38 "{{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}}" "0000264971" "00005617" "10" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Cys)" "" "0000264972" "00005617" "10" "165" "0" "165" "0" "c.165C>T" "r.(?)" "p.(Gly55=)" "" "0000264973" "00005617" "10" "814" "0" "814" "0" "c.814A>C" "r.(?)" "p.(Asn272His)" "" "0000264974" "00005617" "10" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Val294Ile)" "" "0000264975" "00005617" "10" "990" "0" "990" "0" "c.990A>G" "r.(?)" "p.(Glu330=)" "" "0000267106" "00005617" "10" "814" "0" "814" "0" "c.814A>C" "r.(?)" "p.(Asn272His)" "" "0000267107" "00005617" "10" "990" "0" "990" "0" "c.990A>G" "r.(?)" "p.(Glu330=)" "" "0000274364" "00005617" "90" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Pro449Ser)" "" "0000274365" "00005617" "10" "814" "0" "814" "0" "c.814A>C" "r.(?)" "p.(Asn272His)" "" "0000274366" "00005617" "10" "990" "0" "990" "0" "c.990A>G" "r.(?)" "p.(Glu330=)" "" "0000408384" "00005617" "90" "32" "0" "32" "0" "c.32del" "r.(?)" "p.(Gly11Alafs*125)" "1" "0000408389" "00005617" "90" "32" "0" "32" "0" "c.32del" "r.(?)" "p.(Gly11Alafs*125)" "1" "0000408394" "00005617" "90" "717" "0" "717" "0" "c.717T>A" "r.(?)" "p.(Cys239*)" "3" "0000408408" "00005617" "90" "823" "0" "823" "0" "c.823T>C" "r.(?)" "p.(Trp275Arg)" "4" "0000408411" "00005617" "90" "1006" "0" "1008" "0" "c.1006_1008del" "r.(?)" "p.(Gly336del)" "5" "0000408412" "00005617" "90" "1095" "0" "1095" "0" "c.1095C>G" "r.(?)" "p.(Tyr365*)" "5" "0000408413" "00005617" "90" "1102" "0" "1102" "0" "c.1102del" "r.(?)" "p.(Val369*)" "5" "0000520843" "00005617" "90" "980" "0" "980" "0" "c.980A>G" "r.(?)" "p.(His327Arg)" "" "0000520844" "00005617" "10" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Leu113=)" "" "0000520845" "00005617" "10" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Gly11=)" "" "0000651346" "00005617" "90" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Cys)" "" "0000651347" "00005617" "10" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Cys)" "" "0000655033" "00005617" "50" "178" "0" "178" "0" "c.178C>G" "r.(?)" "p.(Arg60Gly)" "" "0000669780" "00005617" "10" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Cys)" "" "0000719654" "00005617" "50" "1277" "9" "1277" "9" "c.1277+9A>G" "r.(=)" "p.(=)" "" "0000719655" "00005617" "30" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ala132Val)" "" "0000801403" "00005617" "30" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Gly204=)" "" "0000828551" "00005617" "50" "-8388608" "0" "817527" "0" "c.-15641132_*816162del" "r.0?" "p.0?" "" "0000886026" "00005617" "30" "556" "9" "556" "9" "c.556+9G>A" "r.(=)" "p.(=)" "" "0000924014" "00005617" "10" "1172" "17" "1172" "17" "c.1172+17C>T" "r.(=)" "p.(=)" "" "0000924015" "00005617" "10" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Leu113=)" "" "0000976020" "00005617" "50" "1138" "0" "1138" "0" "c.1138C>G" "r.(?)" "p.(Gln380Glu)" "" "0000993965" "00005617" "30" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Lys370Glu)" "" "0001021370" "00005617" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Ala203Thr)" "" "0001022187" "00005617" "50" "1277" "9" "1277" "9" "c.1277+9A>G" "r.[1277_1278ins1277+1_1277+8,=]" "p.Trp427Ter" "6i" "0001034213" "00005617" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Gln58Arg)" "" "0001046914" "00005617" "50" "-60" "0" "-60" "0" "c.-60G>A" "r.(?)" "p.(=)" "" "0001047442" "00005617" "90" "739" "0" "739" "0" "c.739A>T" "r.(?)" "p.(Ile247Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000184340" "0000408384" "0000184347" "0000408389" "0000184351" "0000408394" "0000184365" "0000408408" "0000184366" "0000408411" "0000184367" "0000408412" "0000184368" "0000408413" "0000294657" "0000651346" "0000294658" "0000651347" "0000306092" "0000669780" "0000396852" "0000828551" "0000462660" "0001022187" "0000467694" "0001046914"