### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ERCC1) # 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}}" "ERCC1" "excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)" "19" "q13.32" "unknown" "NG_015839.2" "UD_132118962251" "" "https://www.LOVD.nl/ERCC1" "" "1" "3433" "2067" "126380" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ERCC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-08 13:41:55" "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}}" "00007205" "ERCC1" "transcript variant 2" "002" "NM_001983.3" "" "NP_001974.1" "" "" "" "-146" "3236" "894" "45927177" "45910591" "" "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}}" "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" "00746" "COFS4" "cerebrooculofacioskeletal syndrome, type 4 (COFS4)" "AR" "610758" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-08 13:40:53" "05595" "CS" "Cockayne syndrome (CS)" "" "" "" "" "" "00006" "2019-04-20 16:48:42" "00006" "2021-12-10 21:51:32" "05596" "XP" "xeroderma pigmentosum (XP)" "" "" "" "" "" "00006" "2019-04-20 16:55:51" "" "" "05779" "COFS" "cerebrooculofacioskeletal syndrome (COFS)" "" "" "" "" "" "00006" "2020-07-08 13:41:42" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ERCC1" "00139" "ERCC1" "00746" "ERCC1" "05779" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00292157" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306116" "" "" "" "1" "" "00006" "{PMID:Jaspers 2007:17273966}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Italy" "00y14m" "0" "" "" "white" "Pat165TOR" "00306117" "" "" "" "1" "" "00006" "{PMID:Kashiyama 2013:23623389}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "02y06m" "0" "" "" "" "PatCS20LO" "00306118" "" "" "" "1" "" "00006" "Imoto 2007, J Invest Dermatol 127 Supp. Abs547" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "37y" "0" "" "" "" "PatXP202DC" "00311011" "" "" "" "2" "" "03786" "" "2-generation family, 2 affected sisters, unaffected parents" "F" "no" "Australia" "" "0" "" "" "" "FamPatPV50LD" "00311062" "" "" "00311011" "1" "" "03786" "" "sister" "F" "" "Australia" "" "0" "" "" "" "FamPatPV46LD" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00292157" "00198" "00306116" "05779" "00306117" "05595" "00306118" "05596" "00311011" "00198" "00311062" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00746, 05595, 05596, 05779 ## 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}}" "0000231957" "05779" "00306116" "00006" "Familial, autosomal recessive" "00y14m" "pregnancy intrauterine growth retardation; birth 37w, weight, length, and OFC <3rd percentile; microcephaly, premature closure of fontanels, bilateral microphthalmia, blepharophimosis, high nasal bridge, short filtrum, micrognathia, low-set ears, posterior-rotated ears, arthrogryposis with rocker-bottom feet , flexion contractures hands, bilateral congenital hip dislocation; X-rays no spine abnormalities; NMR simplified gyral pattern, cerebellar hypoplasia; mild hypoplasia kidneys with normal structure and function; echography no congenital heart defects; no genital abnormalities, no retinopathy; failure to thrive, tube feeding, did not pass any developmental milestone; 14m-deceased of respiratory failure due to bilateral pneumonia, weight 4.5 kg, height 56 cm, OFC 38 cm" "" "00y00m01d" "" "" "" "" "" "" "COFS4" "severe cerebro-oculo-facial-skeletal syndrome" "" "0000231958" "05595" "00306117" "00006" "Familial, autosomal recessive" "02y06m" "uneventful antenatal period;4-6m microcephaly, micrognathia, contractures knees and elbows, hypertonic, dislocated radial head, deep-set eyes, skeletal abnormalities, camptodactyly, adducted thumbs, stiff limbs, steeply sloping acetabulae, wrist contracture, slender long bones with mildly flared metaphyses, moderate kyphoscoliosis; brisk reflexes, no feeding problems; MRI brain at birth possible polymicrogyria; NMR 4m-large bilateral subdurals (>2 cm in depth), no major visible malformations; ECG 9m-abnormal; 16m-nystagmus, no other ophthalmic abnormalities, corneas completely clear, no cataracts; 2.5y-deceased" "" "" "" "" "" "" "" "" "" "Cockayne syndrome type II" "" "0000231959" "05596" "00306118" "00006" "Familial, autosomal recessive" "37y" "progressive neurodegeneration, dementia, severe generalized brain atrophy (onset 15y); deceased 37y" "" "" "" "" "" "" "" "" "" "xeroderma pigmentosum" "" "0000236282" "00198" "00311011" "03786" "Familial, autosomal recessive" "03y" "ocular photosensitivity, skin photosensitivity (HP:0000992), renal dysfunction, liver dysfunction (HP:0001410), ovarian insufficiency (HP:0008209); 9y10m-orthotopic liver transplantation" "" "" "" "Very low protein levels of ERCC1 and XPF" "" "" "" "" "ERCC1 deficiency" "" "" "0000236327" "00198" "00311062" "03786" "Familial, autosomal recessive" "" "ocular photosensitivity, skin photosensitivity (HP:0000992), renal dysfunction, liver dysfunction (HP:0001410), intellectual disability (HP:0001249); 8y-orthotopic liver transplantation" "" "" "" "" "" "" "" "" "ERCC1 deficiency" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293325" "00292157" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307245" "00306116" "1" "00006" "00006" "2020-07-08 13:52:03" "00006" "2020-07-08 14:07:22" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000307246" "00306117" "1" "00006" "00006" "2020-07-08 14:07:33" "" "" "SEQ" "DNA" "" "" "0000307247" "00306118" "1" "00006" "00006" "2020-07-08 14:23:51" "" "" "SEQ" "DNA" "" "" "0000312163" "00311011" "1" "03786" "03786" "2020-09-13 17:15:05" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000312214" "00311062" "1" "03786" "00006" "2020-09-15 10:00:43" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000307245" "ERCC1" "0000307246" "ERCC1" "0000307247" "ERCC1" "0000312214" "ERCC1" ## 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 = 44 "{{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}}" "0000253499" "0" "10" "19" "45923617" "45923617" "subst" "0.0038433" "01943" "ERCC1_000007" "g.45923617A>G" "" "" "" "ERCC1(NM_001983.3):c.390T>C (p.Y130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45420359A>G" "" "benign" "" "0000253500" "0" "10" "19" "45923653" "45923653" "subst" "0.499047" "01943" "ERCC1_000014" "g.45923653A>G" "" "" "" "ERCC1(NM_001983.3):c.354T>C (p.N118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45420395A>G" "" "benign" "" "0000254268" "0" "30" "19" "45924553" "45924553" "subst" "2.03062E-5" "01943" "ERCC1_000012" "g.45924553A>G" "" "" "" "ERCC1(NM_001983.3):c.204T>C (p.P68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45421295A>G" "" "likely benign" "" "0000276237" "0" "10" "19" "45912924" "45912924" "subst" "0.00431355" "01943" "CD3EAP_000001" "g.45912924C>G" "" "" "" "ERCC1(NM_001983.3):c.*9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45409666C>G" "" "benign" "" "0000276238" "0" "30" "19" "45924532" "45924532" "subst" "0.0114726" "01943" "ERCC1_000011" "g.45924532C>T" "" "" "" "ERCC1(NM_001983.3):c.225G>A (p.T75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45421274C>T" "" "likely benign" "" "0000276239" "0" "30" "19" "45924468" "45924468" "subst" "4.06128E-6" "01943" "ERCC1_000010" "g.45924468T>C" "" "" "" "ERCC1(NM_001983.3):c.289A>G (p.K97E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45421210T>C" "" "likely benign" "" "0000276240" "0" "50" "19" "45923632" "45923632" "subst" "0.000236122" "01943" "ERCC1_000009" "g.45923632G>A" "" "" "" "ERCC1(NM_001983.3):c.375C>T (p.D125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45420374G>A" "" "VUS" "" "0000276241" "0" "30" "19" "45923623" "45923623" "subst" "0.000399273" "01943" "ERCC1_000008" "g.45923623G>A" "" "" "" "ERCC1(NM_001983.3):c.384C>T (p.P128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45420365G>A" "" "likely benign" "" "0000276242" "0" "10" "19" "45918245" "45918245" "subst" "0.0314205" "01943" "ERCC1_000005" "g.45918245G>A" "" "" "" "ERCC1(NM_001983.3):c.603-27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45414987G>A" "" "benign" "" "0000276243" "0" "50" "19" "45917246" "45917246" "subst" "0" "01943" "ERCC1_000004" "g.45917246C>T" "" "" "" "ERCC1(NM_001983.3):c.749G>A (p.S250N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45413988C>T" "" "VUS" "" "0000276244" "0" "30" "19" "45926555" "45926555" "subst" "0" "01943" "ERCC1_000013" "g.45926555G>A" "" "" "" "ERCC1(NM_001983.3):c.78C>T (p.L26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45423297G>A" "" "likely benign" "" "0000276245" "0" "30" "19" "45916929" "45916929" "subst" "0.00102329" "01943" "ERCC1_000002" "g.45916929T>C" "" "" "" "ERCC1(NM_001983.3):c.843+6A>G, ERCC1(NM_202001.2):c.849A>G (p.R283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45413671T>C" "" "likely benign" "" "0000326616" "0" "50" "19" "45917215" "45917215" "subst" "4.0624E-6" "01804" "ERCC1_000003" "g.45917215C>T" "" "" "" "ERCC1(NM_001983.3):c.774+6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45413957C>T" "" "VUS" "" "0000326617" "0" "30" "19" "45922388" "45922388" "subst" "0" "01804" "ERCC1_000006" "g.45922388C>T" "" "" "" "ERCC1(NM_001166049.1):c.493G>A (p.(Ala165Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45419130C>T" "" "likely benign" "" "0000567738" "0" "30" "19" "45912218" "45912218" "subst" "2.46326E-5" "01804" "CD3EAP_000003" "g.45912218A>G" "" "" "" "CD3EAP(NM_012099.1):c.992A>G (p.(Lys331Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45408960A>G" "" "likely benign" "" "0000567740" "0" "30" "19" "45912917" "45912917" "subst" "0" "01943" "CD3EAP_000005" "g.45912917T>C" "" "" "" "ERCC1(NM_001983.3):c.*16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45409659T>C" "" "likely benign" "" "0000567741" "0" "30" "19" "45912970" "45912970" "subst" "1.25521E-5" "01943" "CD3EAP_000006" "g.45912970A>G" "" "" "" "ERCC1(NM_001983.3):c.857T>C (p.F286S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45409712A>G" "" "likely benign" "" "0000567742" "0" "10" "19" "45916903" "45916903" "subst" "0.00193696" "01943" "ERCC1_000001" "g.45916903C>T" "" "" "" "ERCC1(NM_202001.2):c.875G>A (p.W292*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45413645C>T" "" "benign" "" "0000567743" "0" "50" "19" "45917228" "45917228" "subst" "0" "01943" "CD3EAP_000007" "g.45917228G>A" "" "" "" "ERCC1(NM_001983.3):c.767C>T (p.T256I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45413970G>A" "" "VUS" "" "0000567744" "0" "50" "19" "45918121" "45918121" "subst" "0" "01804" "CD3EAP_000008" "g.45918121G>T" "" "" "" "ERCC1(NM_001166049.1):c.700C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45414863G>T" "" "VUS" "" "0000567745" "0" "30" "19" "45920087" "45920087" "subst" "0.000260019" "01943" "CD3EAP_000009" "g.45920087G>A" "" "" "" "ERCC1(NM_001983.3):c.594C>T (p.L198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45416829G>A" "" "likely benign" "" "0000567748" "0" "50" "19" "45924554" "45924554" "subst" "4.06121E-6" "01943" "CD3EAP_000011" "g.45924554G>A" "" "" "" "ERCC1(NM_001983.3):c.203C>T (p.P68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45421296G>A" "" "VUS" "" "0000617696" "0" "10" "19" "45912070" "45912070" "subst" "0.00530534" "02326" "CD3EAP_000012" "g.45912070A>G" "" "" "" "ERCC1(NM_001983.4):c.*863T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45408812A>G" "" "benign" "" "0000617697" "0" "30" "19" "45916907" "45916907" "subst" "0" "01804" "CD3EAP_000013" "g.45916907T>A" "" "" "" "ERCC1(NM_202001.2):c.871A>T (p.(Ser291Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45413649T>A" "" "likely benign" "" "0000624037" "0" "30" "19" "45924574" "45924574" "subst" "0.000255925" "01943" "CD3EAP_000014" "g.45924574G>A" "" "" "" "ERCC1(NM_001983.3):c.183C>T (p.A61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45421316G>A" "" "likely benign" "" "0000650014" "1" "50" "19" "45924532" "45924532" "subst" "0.0114726" "03575" "ERCC1_000011" "g.45924532C>T" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs3212947}" "Germline" "" "rs3212947" "0" "" "" "g.45421274C>T" "" "VUS" "" "0000658611" "0" "90" "19" "45920156" "45920156" "subst" "1.21979E-5" "01943" "CD3EAP_000015" "g.45920156C>T" "" "" "" "ERCC1(NM_001983.3):c.526-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45416898C>T" "" "pathogenic" "" "0000673828" "21" "90" "19" "45922409" "45922409" "subst" "0" "00006" "ERCC1_000015" "g.45922409G>A" "" "{PMID:Jaspers 2007:17273966}" "" "" "" "Germline" "" "" "0" "" "" "g.45419151G>A" "" "pathogenic (recessive)" "" "0000673829" "11" "90" "19" "45918128" "45918128" "subst" "1.62454E-5" "00006" "ERCC1_000016" "g.45918128G>C" "" "{PMID:Jaspers 2007:17273966}" "" "C>G Phe231Leu" "" "Germline" "" "" "0" "" "" "g.45414870G>C" "" "pathogenic (recessive)" "" "0000673830" "3" "90" "19" "45918128" "45918128" "subst" "1.62454E-5" "00006" "ERCC1_000016" "g.45918128G>C" "" "{PMID:Kashiyama 2013:23623389}" "" "" "" "Germline" "" "" "0" "" "" "g.45414870G>C" "" "pathogenic (recessive)" "" "0000673831" "1" "90" "19" "45918145" "45918145" "subst" "0" "00006" "ERCC1_000017" "g.45918145T>A" "" "Imoto 2007, J Invest Dermatol 127 Supp. Abs547" "" "K226X" "" "Germline" "" "" "0" "" "" "g.45414887T>A" "" "pathogenic (recessive)" "" "0000673832" "2" "90" "19" "45918244" "45918244" "subst" "2.03641E-5" "00006" "ERCC1_000018" "g.45918244C>T" "" "Imoto 2007, J Invest Dermatol 127 Supp. Abs547" "" "IVS6-26G>A" "" "Germline" "" "" "0" "" "" "g.45414986C>T" "" "pathogenic (recessive)" "" "0000673844" "0" "70" "19" "45922354" "45922354" "subst" "0" "00006" "ERCC1_000019" "g.45922354A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45419096A>G" "{CV:489383}" "likely pathogenic" "" "0000681449" "0" "50" "19" "45916982" "45916982" "subst" "0.0003494" "01943" "CD3EAP_000016" "g.45916982C>T" "" "" "" "ERCC1(NM_001983.3):c.796G>A (p.A266T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687714" "11" "90" "19" "45922415" "45922415" "subst" "0" "03786" "ERCC1_000020" "g.45922415G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45419157G>A" "" "pathogenic (recessive)" "" "0000687772" "21" "90" "19" "45922224" "45924375" "del" "0" "03786" "ERCC1_000021" "g.45922224_45924375del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45418966_45421117del" "" "pathogenic (recessive)" "" "0000687774" "21" "90" "19" "45922224" "45924375" "del" "0" "03786" "ERCC1_000021" "g.45922224_45924375del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45418966_45421117del" "" "pathogenic (recessive)" "" "0000687775" "11" "90" "19" "45922415" "45922415" "subst" "0" "03786" "ERCC1_000020" "g.45922415G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45419157G>A" "" "pathogenic (recessive)" "" "0000692839" "0" "50" "19" "45918201" "45918201" "subst" "4.06144E-6" "01943" "CD3EAP_000017" "g.45918201C>T" "" "" "" "ERCC1(NM_001983.3):c.620G>A (p.R207Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727441" "0" "30" "19" "45911858" "45911858" "subst" "2.89039E-5" "01943" "CD3EAP_000020" "g.45911858G>A" "" "" "" "CD3EAP(NM_001297590.1):c.638G>A (p.R213Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727442" "0" "30" "19" "45916830" "45916830" "subst" "7.31018E-5" "01943" "CD3EAP_000021" "g.45916830G>C" "" "" "" "ERCC1(NM_202001.2):c.948C>G (p.T316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727443" "0" "30" "19" "45917272" "45917272" "subst" "2.44101E-5" "01943" "CD3EAP_000022" "g.45917272G>A" "" "" "" "ERCC1(NM_001983.3):c.723C>T (p.T241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866186" "0" "50" "19" "45912243" "45912243" "subst" "0" "01943" "CD3EAP_000034" "g.45912243G>C" "" "" "" "CD3EAP(NM_001297590.1):c.1023G>C (p.M341I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043042" "0" "50" "19" "45916979" "45916979" "subst" "0.000243686" "01804" "CD3EAP_000041" "g.45916979A>G" "" "" "" "ERCC1(NM_001983.4):c.799T>C (p.(Ser267Pro))" "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 ERCC1 ## Count = 44 "{{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}}" "0000253499" "00007205" "10" "390" "0" "390" "0" "c.390T>C" "r.(?)" "p.(Tyr130=)" "" "0000253500" "00007205" "10" "354" "0" "354" "0" "c.354T>C" "r.(?)" "p.(Asn118=)" "" "0000254268" "00007205" "30" "204" "0" "204" "0" "c.204T>C" "r.(?)" "p.(Pro68=)" "" "0000276237" "00007205" "10" "903" "0" "903" "0" "c.*9G>C" "r.(=)" "p.(=)" "" "0000276238" "00007205" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Thr75=)" "" "0000276239" "00007205" "30" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Lys97Glu)" "" "0000276240" "00007205" "50" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(Asp125=)" "" "0000276241" "00007205" "30" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Pro128=)" "" "0000276242" "00007205" "10" "603" "-27" "603" "-27" "c.603-27C>T" "r.(=)" "p.(=)" "" "0000276243" "00007205" "50" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Ser250Asn)" "" "0000276244" "00007205" "30" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Leu26=)" "" "0000276245" "00007205" "30" "843" "6" "843" "6" "c.843+6A>G" "r.(=)" "p.(=)" "" "0000326616" "00007205" "50" "774" "6" "774" "6" "c.774+6G>A" "r.(=)" "p.(=)" "" "0000326617" "00007205" "30" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Ala165Thr)" "" "0000567738" "00007205" "30" "1609" "0" "1609" "0" "c.*715T>C" "r.(=)" "p.(=)" "" "0000567740" "00007205" "30" "910" "0" "910" "0" "c.*16A>G" "r.(=)" "p.(=)" "" "0000567741" "00007205" "30" "857" "0" "857" "0" "c.857T>C" "r.(?)" "p.(Phe286Ser)" "" "0000567742" "00007205" "10" "843" "32" "843" "32" "c.843+32G>A" "r.(=)" "p.(=)" "" "0000567743" "00007205" "50" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Thr256Ile)" "" "0000567744" "00007205" "50" "700" "0" "700" "0" "c.700C>A" "r.(?)" "p.(Arg234=)" "" "0000567745" "00007205" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Leu198=)" "" "0000567748" "00007205" "50" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "" "0000617696" "00007205" "10" "1757" "0" "1757" "0" "c.*863T>C" "r.(=)" "p.(=)" "" "0000617697" "00007205" "30" "843" "28" "843" "28" "c.843+28A>T" "r.(=)" "p.(=)" "" "0000624037" "00007205" "30" "183" "0" "183" "0" "c.183C>T" "r.(?)" "p.(Ala61=)" "" "0000650014" "00007205" "50" "225" "0" "225" "0" "c.225G>A" "r.(=)" "p.(=)" "" "0000658611" "00007205" "90" "526" "-1" "526" "-1" "c.526-1G>A" "r.spl?" "p.?" "" "0000673828" "00007205" "90" "472" "0" "472" "0" "c.472C>T" "r.472c>u" "p.Gln158*" "" "0000673829" "00007205" "90" "693" "0" "693" "0" "c.693C>G" "r.693c>g" "p.Phe231Leu" "" "0000673830" "00007205" "90" "693" "0" "693" "0" "c.693C>G" "r.(?)" "p.(Phe231Leu)" "7" "0000673831" "00007205" "90" "676" "0" "676" "0" "c.676A>T" "r.(?)" "p.(Lys226*)" "" "0000673832" "00007205" "90" "603" "-26" "603" "-26" "c.603-26G>A" "r.spl" "p.(=)" "6i" "0000673844" "00007205" "70" "525" "2" "525" "2" "c.525+2T>C" "r.spl?" "p.?" "" "0000681449" "00007205" "50" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Ala266Thr)" "" "0000687714" "00007205" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "" "0000687772" "00007205" "90" "321" "61" "525" "132" "c.321+61_525+132del" "r.(322_525del)" "p.(Arg108_Val175del)" "3i_5i" "0000687774" "00007205" "90" "321" "61" "525" "132" "c.321+61_525+132del" "r.(322_525del)" "p.(Arg108_Val175del)" "3i_5i" "0000687775" "00007205" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "" "0000692839" "00007205" "50" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Arg207Gln)" "" "0000727441" "00007205" "30" "1969" "0" "1969" "0" "c.*1075C>T" "r.(=)" "p.(=)" "" "0000727442" "00007205" "30" "843" "105" "843" "105" "c.843+105C>G" "r.(=)" "p.(=)" "" "0000727443" "00007205" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Thr241=)" "" "0000866186" "00007205" "50" "1584" "0" "1584" "0" "c.*690C>G" "r.(=)" "p.(=)" "" "0001043042" "00007205" "50" "799" "0" "799" "0" "c.799T>C" "r.(?)" "p.(Ser267Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000293325" "0000650014" "0000307245" "0000673828" "0000307245" "0000673829" "0000307246" "0000673830" "0000307247" "0000673831" "0000307247" "0000673832" "0000312163" "0000687714" "0000312163" "0000687772" "0000312214" "0000687774" "0000312214" "0000687775"