### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = XPA) # 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}}" "XPA" "xeroderma pigmentosum, complementation group A" "9" "q22.3" "unknown" "NG_011642.1" "UD_132118263084" "" "http://www.LOVD.nl/XPA" "" "1" "12814" "7507" "611153" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/XPA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-09-04 15:35:52" "00000" "2025-02-07 18:57:27" ## 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}}" "00022925" "XPA" "transcript variant 1" "001" "NM_000380.3" "" "NP_000371.1" "" "" "" "-117" "1352" "822" "100459691" "100437191" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02134" "XPA" "xeroderma pigmentosum, complementation group A (XPA)" "AR" "278700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05596" "XP" "xeroderma pigmentosum (XP)" "" "" "" "" "" "00006" "2019-04-20 16:55:51" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "XPA" "00139" "XPA" "02134" ## 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}}" "00048065" "" "" "" "1" "" "00727" "" "" "M" "" "India" "" "0" "" "" "" "" "00361896" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00414404" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP71" "00436190" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Bangladesh" "XP111BR" "00436191" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP54PV" "00436192" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Bangladesh" "XP57BR" "00436193" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Somalia" "XP80BR" "00436194" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Somalia" "XP81BR" "00436195" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP15BR" "00436196" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP114BR" "00436197" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP20BR" "00436198" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP9BI" "00436199" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP103BR" "00436200" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP53BR" "00436201" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "India" "XP116BR" "00436202" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP2PR" "00436203" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP89BR-S" "00436204" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP1PR" "00436205" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP88BR" "00436206" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP89BR" "00436207" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "India" "XP1CB" "00440628" "" "" "" "1" "" "00006" "{PMID:Sidwell 2006:16792756}" "2-generation family, 1 affected, unaffected heterozygous parents (first cousin)" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "India;Punjab" "patientXP40BR" "00460977" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00048065" "04296" "00361896" "02134" "00414404" "00198" "00436190" "05596" "00436191" "05596" "00436192" "05596" "00436193" "05596" "00436194" "05596" "00436195" "05596" "00436196" "05596" "00436197" "05596" "00436198" "05596" "00436199" "05596" "00436200" "05596" "00436201" "05596" "00436202" "05596" "00436203" "05596" "00436204" "05596" "00436205" "05596" "00436206" "05596" "00436207" "05596" "00440628" "05596" "00460977" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02134, 04296, 05596 ## Count = 22 "{{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}}" "0000034747" "04296" "00048065" "00727" "Unknown" "" "mucinous caecal cancer 65y; sigmoid cancer 67y; Previous skin tumours including squamous carcinoma in an actinic keratosis, multiple seborrhoeic keratoses, keratoacanthomata/squamous carcinomas x2, junctional naevi, squamous carcinoma and lentigo malignae x2" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000257290" "02134" "00361896" "03219" "Familial, autosomal recessive" "" "Developmental delay, growth retardation, malar rash" "" "" "" "" "" "" "" "" "" "" "" "0000306239" "00198" "00414404" "00000" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "Xeroderma Pigmentosum Group A" "" "" "0000326370" "05596" "00436190" "00006" "Familial, autosomal recessive" "8y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 3-5; unscheduled DNA synthesis 3" "" "5y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326371" "05596" "00436191" "00006" "Familial, autosomal recessive" "8y" "sunburn severity score 3; 8y-first cancer, squamous cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 4-5;" "" "7y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326372" "05596" "00436192" "00006" "Familial, autosomal recessive" "15y" "sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 4; unscheduled DNA synthesis 1" "" "4y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326373" "05596" "00436193" "00006" "Familial, autosomal recessive" "15y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 2" "" "8y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326374" "05596" "00436194" "00006" "Familial, autosomal recessive" "19y" "sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 5" "" "12y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326375" "05596" "00436195" "00006" "Familial, autosomal recessive" "23y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 0" "" "<1y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326376" "05596" "00436196" "00006" "Familial, autosomal recessive" "24y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 5; unscheduled DNA synthesis 8" "" "22y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326377" "05596" "00436197" "00006" "Familial, autosomal recessive" "33y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 8; unscheduled DNA synthesis 8" "" "13y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326378" "05596" "00436198" "00006" "Familial, autosomal recessive" "7y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0;" "" "6y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326379" "05596" "00436199" "00006" "Familial, autosomal recessive" "8y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 20" "" "4y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326380" "05596" "00436200" "00006" "Familial, autosomal recessive" "19y" "sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 3" "" "7y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326381" "05596" "00436201" "00006" "Familial, autosomal recessive" "31y" "sunburn severity score 1; 30y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 12" "" "31y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326382" "05596" "00436202" "00006" "Familial, autosomal recessive" "34y" "sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0;" "" "33y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326383" "05596" "00436203" "00006" "Familial, autosomal recessive" "35y" "sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0;" "" "34y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326384" "05596" "00436204" "00006" "Familial, autosomal recessive" "36y" "sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0;" "" "35y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326385" "05596" "00436205" "00006" "Familial, autosomal recessive" "37y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15" "" "31y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326386" "05596" "00436206" "00006" "Familial, autosomal recessive" "44y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 5" "" "39y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000326387" "05596" "00436207" "00006" "Familial, autosomal recessive" "80y" "sunburn severity score 0; 46y-first cancer, melanoma in situ; 10 malignant melanomas; 35 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 13" "" "67y" "" "" "" "" "" "" "XPA" "xeroderma pigmentosa" "" "0000330540" "05596" "00440628" "00006" "Familial, autosomal recessive" "61y" "see paper; ..., pink polypoid tumour posterior aspect right shoulder; 3y-freckling skin; sun expoure gives mild symptoms sun-burn with erythema and burning" "" "" "" "" "" "" "" "" "XPA" "" "" ## 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}}" "0000048190" "00048065" "1" "00727" "00727" "2015-09-03 13:15:45" "" "" "SEQ" "DNA" "" "" "0000363124" "00361896" "1" "03219" "03219" "2021-04-12 05:55:58" "" "" "SEQ-NG" "DNA" "" "" "0000415684" "00414404" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000437673" "00436190" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437674" "00436191" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437675" "00436192" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437676" "00436193" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437677" "00436194" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437678" "00436195" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437679" "00436196" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437680" "00436197" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437681" "00436198" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437682" "00436199" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437683" "00436200" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437684" "00436201" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437685" "00436202" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437686" "00436203" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437687" "00436204" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437688" "00436205" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437689" "00436206" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437690" "00436207" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000442113" "00440628" "1" "00006" "00006" "2023-11-05 13:32:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000462609" "00460977" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000048190" "MLH1" "0000048190" "XPA" "0000415684" "XPA" "0000437673" "XPA" "0000437674" "XPA" "0000437675" "XPA" "0000437676" "XPA" "0000437677" "XPA" "0000437678" "XPA" "0000437679" "XPA" "0000437680" "XPA" "0000437681" "XPA" "0000437682" "XPA" "0000437683" "XPA" "0000437684" "XPA" "0000437685" "XPA" "0000437686" "XPA" "0000437687" "XPA" "0000437688" "XPA" "0000437689" "XPA" "0000437690" "XPA" "0000442113" "XPA" "0000462609" "XPA" ## 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 = 45 "{{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}}" "0000077016" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00727" "XPA_000001" "g.100449370T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic" "" "0000250446" "0" "30" "9" "100447186" "100447186" "subst" "8.94694E-5" "02329" "XPA_000003" "g.100447186A>G" "" "" "" "XPA(NM_000380.4):c.673+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97684904A>G" "" "likely benign" "" "0000255439" "0" "90" "9" "100447306" "100447306" "del" "0" "01943" "XPA_000004" "g.100447306del" "" "" "" "XPA(NM_000380.3):c.573delT (p.E192Kfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97685024del" "" "pathogenic" "" "0000313125" "0" "10" "9" "100459578" "100459578" "subst" "0.632182" "02325" "XPA_000008" "g.100459578T>C" "" "" "" "XPA(NR_027302.2):n.45A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97697296T>C" "" "benign" "" "0000313740" "0" "30" "9" "100459559" "100459559" "subst" "9.53453E-5" "02329" "XPA_000007" "g.100459559C>T" "" "" "" "XPA(NM_000380.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97697277C>T" "" "likely benign" "" "0000320057" "0" "50" "9" "100459439" "100459439" "subst" "0" "01943" "XPA_000006" "g.100459439G>A" "" "" "" "XPA(NM_000380.3):c.136C>T (p.R46W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97697157G>A" "" "VUS" "" "0000346424" "0" "70" "9" "100437812" "100437812" "subst" "0.000134128" "02327" "XPA_000009" "g.100437812T>C" "" "" "" "XPA(NM_000380.3):c.731A>G (p.H244R), XPA(NM_001354975.2):c.605A>G (p.H202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97675530T>C" "" "likely pathogenic" "" "0000535551" "0" "70" "9" "100437769" "100437769" "dup" "0" "01943" "NCBP1_000001" "g.100437769dup" "" "" "" "XPA(NM_000380.3):c.774dupT (p.K259*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97675487dup" "" "likely pathogenic" "" "0000535552" "0" "10" "9" "100437777" "100437777" "subst" "0.00210934" "02329" "NCBP1_000002" "g.100437777T>C" "" "" "" "XPA(NM_000380.4):c.766A>G (p.M256V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97675495T>C" "" "benign" "" "0000535553" "0" "50" "9" "100437812" "100437812" "subst" "0.000134128" "01943" "XPA_000009" "g.100437812T>C" "" "" "" "XPA(NM_000380.3):c.731A>G (p.H244R), XPA(NM_001354975.2):c.605A>G (p.H202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97675530T>C" "" "VUS" "" "0000535555" "0" "90" "9" "100455949" "100455950" "dup" "0" "01943" "XPA_000011" "g.100455949_100455950dup" "" "" "" "XPA(NM_000380.3):c.266_267dupAA (p.V90Kfs*15), XPA(NM_000380.4):c.266_267dup (p.(Val90Lysfs*15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97693667_97693668dup" "" "pathogenic" "" "0000535556" "0" "30" "9" "100459441" "100459441" "subst" "0" "01804" "XPA_000012" "g.100459441G>A" "" "" "" "XPA(NM_000380.3):c.134C>T (p.(Ala45Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97697159G>A" "" "likely benign" "" "0000656163" "0" "70" "9" "100437812" "100437812" "subst" "0.000134128" "02325" "XPA_000009" "g.100437812T>C" "" "" "" "XPA(NM_000380.3):c.731A>G (p.H244R), XPA(NM_001354975.2):c.605A>G (p.H202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97675530T>C" "" "likely pathogenic" "" "0000678463" "0" "90" "9" "100449458" "100449461" "del" "0" "01943" "XPA_000013" "g.100449458_100449461del" "" "" "" "XPA(NM_001354975.1):c.348_351delAGAG (p.R116Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763551" "3" "90" "9" "100451874" "100451874" "subst" "1.62941E-5" "03219" "XPA_000014" "g.100451874C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000852029" "0" "70" "9" "100437763" "100437776" "del" "0" "02327" "NCBP1_000003" "g.100437763_100437776del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000852030" "0" "90" "9" "100447274" "100447278" "del" "0" "02327" "XPA_000017" "g.100447274_100447278del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861310" "0" "30" "9" "100437881" "100437881" "dup" "0" "01943" "NCBP1_000004" "g.100437881dup" "" "" "" "XPA(NM_001354975.1):c.548-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873540" "0" "70" "9" "100455931" "100455931" "subst" "0" "00000" "XPA_000019" "g.100455931C>T" "171" "{PMID:Sun 2018:30076350}" "" "XPA(NM_000380.3):c.283G>A(p.G95R)/c.631C>T(p.R211*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.97693649C>T" "" "likely pathogenic" "" "0000873541" "0" "70" "9" "100447247" "100447247" "subst" "4.06659E-6" "00000" "XPA_000018" "g.100447247G>A" "171" "{PMID:Sun 2018:30076350}" "" "XPA(NM_000380.3):c.283G>A(p.G95R)/c.631C>T(p.R211*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.97684965G>A" "" "likely pathogenic" "" "0000933025" "3" "90" "9" "100455961" "100455961" "subst" "0" "00006" "XPA_000024" "g.100455961G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97693679G>A" "" "pathogenic (recessive)" "" "0000933026" "3" "90" "9" "100447230" "100447231" "del" "0" "00006" "XPA_000021" "g.100447230_100447231del" "" "{PMID:Fassihi 2016:26884178}" "" "648_649delGA" "" "Germline" "" "" "0" "" "" "g.97684948_97684949del" "" "pathogenic (recessive)" "" "0000933027" "3" "90" "9" "100447243" "100447243" "dup" "0" "00006" "XPA_000022" "g.100447243dup" "" "{PMID:Fassihi 2016:26884178}" "" "640dupA" "" "Germline" "" "" "0" "" "" "g.97684961dup" "" "pathogenic (recessive)" "" "0000933028" "3" "90" "9" "100451891" "100451891" "subst" "0" "00006" "XPA_000023" "g.100451891C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97689609C>T" "" "pathogenic (recessive)" "" "0000933029" "3" "90" "9" "100451891" "100451891" "subst" "0" "00006" "XPA_000023" "g.100451891C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97689609C>T" "" "pathogenic (recessive)" "" "0000933030" "3" "90" "9" "100455949" "100455950" "dup" "0" "00006" "XPA_000011" "g.100455949_100455950dup" "" "{PMID:Fassihi 2016:26884178}" "" "266_267dupAA" "" "Germline" "" "" "0" "" "" "g.97693667_97693668dup" "" "pathogenic (recessive)" "" "0000933031" "3" "90" "9" "100437861" "100437861" "subst" "0.000309386" "00006" "XPA_000020" "g.100437861G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97675579G>A" "" "pathogenic (recessive)" "" "0000933032" "3" "90" "9" "100437861" "100437861" "subst" "0.000309386" "00006" "XPA_000020" "g.100437861G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97675579G>A" "" "pathogenic (recessive)" "" "0000933033" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000933034" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000933035" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000933036" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000933037" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000933038" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000933039" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000933040" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000933041" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000933042" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000940103" "3" "90" "9" "100449370" "100449370" "subst" "4.55747E-5" "00006" "XPA_000001" "g.100449370T>C" "" "{PMID:Sidwell 2006:16792756}" "" "" "" "Germline" "" "" "0" "" "" "g.97687088T>C" "" "pathogenic (recessive)" "" "0000978307" "0" "50" "9" "100451889" "100451889" "subst" "4.08237E-5" "01804" "XPA_000025" "g.100451889C>T" "" "" "" "XPA(NM_000380.4):c.316G>A (p.(Glu106Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978308" "0" "90" "9" "100455949" "100455950" "dup" "0" "01804" "XPA_000011" "g.100455949_100455950dup" "" "" "" "XPA(NM_000380.3):c.266_267dupAA (p.V90Kfs*15), XPA(NM_000380.4):c.266_267dup (p.(Val90Lysfs*15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978309" "0" "30" "9" "100459395" "100459395" "subst" "0" "01804" "XPA_000026" "g.100459395G>A" "" "" "" "XPA(NM_000380.4):c.172+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997376" "0" "90" "9" "100447259" "100447259" "subst" "2.43992E-5" "01804" "XPA_000027" "g.100447259G>A" "" "" "" "XPA(NM_000380.3):c.619C>T (p.(Arg207*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001022136" "0" "50" "9" "100437812" "100437812" "subst" "0.000134128" "04796" "XPA_000009" "g.100437812T>C" "" "" "" "NM_001354975.1:c.605A>G" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.97675530T>C" "" "VUS" "" "0001025552" "0" "90" "9" "100447230" "100447231" "del" "0" "02329" "XPA_000021" "g.100447230_100447231del" "" "" "" "XPA(NM_000380.4):c.648_649delGA (p.K217Efs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 XPA ## Count = 45 "{{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}}" "0000077016" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl" "p.(=)" "4i" "0000250446" "00022925" "30" "673" "19" "673" "19" "c.673+19T>C" "r.(=)" "p.(=)" "" "0000255439" "00022925" "90" "573" "0" "573" "0" "c.573del" "r.(?)" "p.(Glu192LysfsTer9)" "" "0000313125" "00022925" "10" "-4" "0" "-4" "0" "c.-4A>G" "r.(?)" "p.(=)" "" "0000313740" "00022925" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Arg)" "" "0000320057" "00022925" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Trp)" "" "0000346424" "00022925" "70" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(His244Arg)" "" "0000535551" "00022925" "70" "774" "0" "774" "0" "c.774dup" "r.(?)" "p.(Lys259Ter)" "" "0000535552" "00022925" "10" "766" "0" "766" "0" "c.766A>G" "r.(?)" "p.(Met256Val)" "" "0000535553" "00022925" "50" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(His244Arg)" "" "0000535555" "00022925" "90" "266" "0" "267" "0" "c.266_267dup" "r.(?)" "p.(Val90LysfsTer15)" "" "0000535556" "00022925" "30" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Ala45Val)" "" "0000656163" "00022925" "70" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(His244Arg)" "" "0000678463" "00022925" "90" "474" "0" "477" "0" "c.474_477del" "r.(?)" "p.(Arg158SerfsTer8)" "" "0000763551" "00022925" "90" "331" "0" "331" "0" "c.331G>T" "r.(?)" "p.(Glu111*)" "" "0000852029" "00022925" "70" "772" "0" "785" "0" "c.772_785del" "r.(?)" "p.(Arg258Tyrfs*5)" "" "0000852030" "00022925" "90" "601" "0" "605" "0" "c.601_605del" "r.(?)" "p.(Glu201Serfs*18)" "" "0000861310" "00022925" "30" "674" "-4" "674" "-4" "c.674-4dup" "r.spl?" "p.?" "" "0000873540" "00022925" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "0000873541" "00022925" "70" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211*)" "" "0000933025" "00022925" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Gln85*)" "" "0000933026" "00022925" "90" "648" "0" "649" "0" "c.648_649del" "r.(?)" "p.(Lys217Glufs*3)" "" "0000933027" "00022925" "90" "640" "0" "640" "0" "c.640dup" "r.(?)" "p.(Met214Asnfs*7)" "" "0000933028" "00022925" "90" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Cys105Tyr)" "" "0000933029" "00022925" "90" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Cys105Tyr)" "" "0000933030" "00022925" "90" "266" "0" "267" "0" "c.266_267dup" "r.(?)" "p.(Val90Lysfs*15)" "" "0000933031" "00022925" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228*)" "" "0000933032" "00022925" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228*)" "" "0000933033" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000933034" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000933035" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000933036" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000933037" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000933038" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000933039" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000933040" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000933041" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000933042" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.spl?" "p.?" "" "0000940103" "00022925" "90" "555" "8" "555" "8" "c.555+8A>G" "r.[555_556ins55+1_555+7;=|0.05]" "p.[Ile184Valfs*9,=]" "4i" "0000978307" "00022925" "50" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Glu106Lys)" "" "0000978308" "00022925" "90" "266" "0" "267" "0" "c.266_267dup" "r.(?)" "p.(Val90LysfsTer15)" "" "0000978309" "00022925" "30" "172" "8" "172" "8" "c.172+8C>T" "r.(=)" "p.(=)" "" "0000997376" "00022925" "90" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "" "0001022136" "00022925" "50" "731" "0" "731" "0" "c.731A>G" "r.731A>G" "p.His244Arg" "" "0001025552" "00022925" "90" "648" "0" "649" "0" "c.648_649del" "r.(?)" "p.(Lys217Glufs*3)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000048190" "0000077016" "0000363124" "0000763551" "0000415684" "0000873540" "0000415684" "0000873541" "0000437673" "0000933025" "0000437674" "0000933026" "0000437675" "0000933027" "0000437676" "0000933028" "0000437677" "0000933029" "0000437678" "0000933030" "0000437679" "0000933031" "0000437680" "0000933032" "0000437681" "0000933033" "0000437682" "0000933034" "0000437683" "0000933035" "0000437684" "0000933036" "0000437685" "0000933037" "0000437686" "0000933038" "0000437687" "0000933039" "0000437688" "0000933040" "0000437689" "0000933041" "0000437690" "0000933042" "0000442113" "0000940103" "0000462609" "0001022136"