### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ERCC5) # 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}}" "ERCC5" "excision repair cross-complementing rodent repair deficiency, complementation group 5" "13" "q22-q34" "unknown" "NG_007146.1" "UD_132084449767" "" "https://www.LOVD.nl/ERCC5" "" "1" "3437" "2073" "133530" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2019-04-20 16:05:41" "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}}" "00000176" "ERCC5" "excision repair cross-complementing rodent repair deficiency, complementation group 5 (expired, new version available)" "001" "NM_000123.2" "" "NP_000114.2" "" "" "" "-426" "3659" "3561" "103498191" "103528351" "00002" "2012-05-11 13:12:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "00985" "XPG" "xeroderma pigmentosum, complementation group G (XPG)" "AR" "278780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00986" "COFS3" "cerebrooculofacioskeletal syndrome, type 3 (COFS-3" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05596" "XP" "xeroderma pigmentosum (XP)" "" "" "" "" "" "00006" "2019-04-20 16:55:51" "" "" "06212" "COFS3" "Cerebrooculofacioskeletal syndrome 3" "AR" "616570" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ERCC5" "00139" "ERCC5" "00985" "ERCC5" "00986" "ERCC5" "06212" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00000074" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00104016" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-521A" "00230992" "" "" "" "1" "" "01503" "" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00230993" "" "" "" "1" "" "01503" "" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00290832" "" "" "" "181" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290833" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304392" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00436259" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP104BR" "00436260" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP118BR" "00436261" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Somalia" "XP55BR" "00436262" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Somalia" "XP56BR" "00436263" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP34BR" "00436264" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP120BR" "00436265" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP119BR" "00436266" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP101BR" "00443799" "" "" "" "1" "" "04599" "" "" "F" "" "Mexico" "" "" "" "" "Mexican" "MXCCR1703" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00104016" "03381" "00230992" "05596" "00230993" "05596" "00290832" "00198" "00290833" "00198" "00304392" "00198" "00436259" "05596" "00436260" "05596" "00436261" "05596" "00436262" "05596" "00436263" "05596" "00436264" "05596" "00436265" "05596" "00436266" "05596" "00443799" "05489" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00985, 00986, 03381, 05489, 05596, 06212 ## Count = 12 "{{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}}" "0000081950" "03381" "00104016" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000173476" "05596" "00230992" "01503" "Familial, autosomal recessive" "" "The patient, a 22-year-old female, was first observed to be sun sensitive when she was a newborn. She had diffuse erythema and desquamation after short sun exposure, and it recurred after varying degrees of sun exposure. She presented mild erythema and desquamation on the face, mainly on the forehead, malar region and nasal dorsum. Additionally, she had tiny vesicles on her lower lip. In addition, there were multiple solar lentigines on sun-exposed areas of the body, including the face, neck, shoulders, and upper back. She also reported having photophobia with redness and watering of the eyes during sun exposure." "22y" "" "" "" "" "" "" "" "XPG" "xeroderma pigmentosum, group G" "" "0000173477" "05596" "00230993" "01503" "Familial, autosomal recessive" "" "The patient, a 17-year-old male, presented with slight erythema and desquamation on the face, especially on the nasal dorsum. There were also multiple solar lentigines on his central face and a few lentigines on the upper trunk. He first exhibited sun sensitivity as a newborn with the same clinical manifestations as his sister and also reported episodes of photophobia. Neither sibling had a history of skin cancer or skin cancer precursors. They never had lesions surgically removed." "17y" "" "" "" "" "" "" "" "XPG" "xeroderma pigmentosum, group G" "" "0000326439" "05596" "00436259" "00006" "Familial, autosomal recessive" "6y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 0" "" "2y" "" "" "" "" "" "" "XPG" "xeroderma pigmentosa" "" "0000326440" "05596" "00436260" "00006" "Familial, autosomal recessive" "10y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 3" "" "9y" "" "" "" "" "" "" "XPG" "xeroderma pigmentosa" "" "0000326441" "05596" "00436261" "00006" "Familial, autosomal recessive" "15y" "sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1" "" "4y" "" "" "" "" "" "" "XPG" "xeroderma pigmentosa" "" "0000326442" "05596" "00436262" "00006" "Familial, autosomal recessive" "18y" "sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1" "" "7y" "" "" "" "" "" "" "XPG" "xeroderma pigmentosa" "" "0000326443" "05596" "00436263" "00006" "Familial, autosomal recessive" "20y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 3" "" "2y" "" "" "" "" "" "" "XPG" "xeroderma pigmentosa" "" "0000326444" "05596" "00436264" "00006" "Familial, autosomal recessive" "36y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 4;" "" "36y" "" "" "" "" "" "" "XPG" "xeroderma pigmentosa" "" "0000326445" "05596" "00436265" "00006" "Familial, autosomal recessive" "38y" "sunburn severity score 3; 20y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4;" "" "38y" "" "" "" "" "" "" "XPG" "xeroderma pigmentosa" "" "0000326446" "05596" "00436266" "00006" "Familial, autosomal recessive" "68y" "sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 6; unscheduled DNA synthesis 14" "" "64y" "" "" "" "" "" "" "XPG" "xeroderma pigmentosa" "" "0000333076" "05489" "00443799" "04599" "Unknown" "39" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000074" "00000074" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000104487" "00104016" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000232088" "00230992" "1" "01503" "00006" "2012-12-03 20:33:35" "00006" "2012-12-07 16:47:30" "SEQ" "DNA;RNA" "" "" "0000232089" "00230993" "1" "01503" "00006" "2012-12-03 20:40:35" "00006" "2012-12-07 16:49:56" "SEQ" "DNA;RNA" "" "" "0000292000" "00290832" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292001" "00290833" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305521" "00304392" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000437742" "00436259" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437743" "00436260" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437744" "00436261" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437745" "00436262" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437746" "00436263" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437747" "00436264" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437748" "00436265" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437749" "00436266" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000445296" "00443799" "1" "04599" "04599" "2023-12-03 01:41:19" "04599" "2023-12-21 06:35:46" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000000074" "AGXT" "0000000074" "ATP7B" "0000000074" "CFTR" "0000000074" "ERCC5" "0000000074" "GLB1" "0000000074" "MTHFR" "0000000074" "NHLRC1" "0000000074" "NPHS1" "0000000074" "SERPINA1" "0000232088" "ERCC5" "0000232089" "ERCC5" "0000437742" "ERCC5" "0000437743" "ERCC5" "0000437744" "ERCC5" "0000437745" "ERCC5" "0000437746" "ERCC5" "0000437747" "ERCC5" "0000437748" "ERCC5" "0000437749" "ERCC5" "0000445296" "ERCC5" ## 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 = 135 "{{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}}" "0000000423" "0" "50" "13" "103513971" "103513971" "subst" "4.06276E-6" "00002" "ERCC5_000063" "g.103513971C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.102861621C>T" "" "VUS" "" "0000169228" "0" "70" "13" "103528135" "103528135" "subst" "4.06369E-6" "00587" "ERCC5_000064" "g.103528135C>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000123.3(ERCC5):c.3443C>G p.(Ser1148Cys)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.102875785C>G" "" "likely pathogenic" "" "0000249917" "0" "10" "13" "103513944" "103513944" "subst" "0.0298396" "02329" "ERCC5_000016" "g.103513944A>G" "" "" "" "ERCC5(NM_000123.3):c.760A>G (p.M254V), ERCC5(NM_000123.4):c.760A>G (p.M254V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102861594A>G" "" "benign" "" "0000249958" "0" "10" "13" "103513951" "103513951" "subst" "0.00990461" "02329" "ERCC5_000017" "g.103513951A>G" "" "" "" "ERCC5(NM_000123.3):c.767A>G (p.Q256R), ERCC5(NM_000123.4):c.767A>G (p.Q256R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102861601A>G" "" "benign" "" "0000250313" "0" "30" "13" "103506220" "103506220" "subst" "4.87456E-5" "02329" "ERCC5_000010" "g.103506220A>G" "" "" "" "ERCC5(NM_000123.4):c.378A>G (p.K126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102853870A>G" "" "likely benign" "" "0000250333" "0" "30" "13" "103515193" "103515193" "subst" "0.000150288" "02329" "ERCC5_000032" "g.103515193A>G" "" "" "" "ERCC5(NM_000123.4):c.1694A>G (p.D565G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862843A>G" "" "likely benign" "" "0000250358" "0" "30" "13" "103514646" "103514646" "subst" "4.07004E-6" "02329" "ERCC5_000025" "g.103514646A>G" "" "" "" "ERCC5(NM_000123.4):c.1147A>G (p.I383V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862296A>G" "" "likely benign" "" "0000253141" "0" "10" "13" "103513944" "103513944" "subst" "0.0298396" "01943" "ERCC5_000016" "g.103513944A>G" "" "" "" "ERCC5(NM_000123.3):c.760A>G (p.M254V), ERCC5(NM_000123.4):c.760A>G (p.M254V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102861594A>G" "" "benign" "" "0000254049" "0" "30" "13" "103513951" "103513951" "subst" "0.00990461" "01943" "ERCC5_000017" "g.103513951A>G" "" "" "" "ERCC5(NM_000123.3):c.767A>G (p.Q256R), ERCC5(NM_000123.4):c.767A>G (p.Q256R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102861601A>G" "" "likely benign" "" "0000254243" "0" "30" "13" "103528238" "103528238" "subst" "4.18901E-6" "01943" "ERCC5_000062" "g.103528238A>G" "" "" "" "ERCC5(NM_000123.3):c.3546A>G (p.R1182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875888A>G" "" "likely benign" "" "0000254525" "0" "30" "13" "103498692" "103498692" "subst" "0.000590053" "01943" "ERCC5_000006" "g.103498692A>G" "" "" "" "ERCC5(NM_000123.3):c.76A>G (p.I26V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846342A>G" "" "likely benign" "" "0000256154" "0" "50" "13" "103498689" "103498689" "subst" "0" "01943" "ERCC5_000005" "g.103498689A>G" "" "" "" "ERCC5(NM_000123.3):c.73A>G (p.K25E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846339A>G" "" "VUS" "" "0000267867" "0" "10" "13" "103504517" "103504517" "subst" "0.520009" "02325" "ERCC5_000007" "g.103504517T>C" "" "" "" "BIVM-ERCC5(NM_001204425.2):c.1500T>C (p.H500=), ERCC5(NM_000123.3):c.138T>C (p.H46=), ERCC5(NM_000123.4):c.138T>C (p.H46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852167T>C" "" "benign" "" "0000267868" "0" "50" "13" "103518693" "103518693" "subst" "0.000458976" "02325" "ERCC5_000039" "g.103518693G>A" "" "" "" "ERCC5(NM_000123.3):c.2281G>A (p.A761T), ERCC5(NM_000123.4):c.2281G>A (p.A761T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866343G>A" "" "VUS" "" "0000267869" "0" "10" "13" "103524762" "103524762" "subst" "0.444251" "02325" "ERCC5_000049" "g.103524762C>T" "" "" "" "BIVM-ERCC5(NM_001204425.2):c.4241+14C>T, ERCC5(NM_000123.3):c.2879+14C>T, ERCC5(NM_000123.4):c.2879+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102872412C>T" "" "benign" "" "0000267870" "0" "10" "13" "103527849" "103527849" "subst" "0.999512" "02325" "ERCC5_000055" "g.103527849G>C" "" "" "" "BIVM-ERCC5(NM_001204425.2):c.4519G>C (p.G1507R), ERCC5(NM_000123.4):c.3157G>C (p.G1053R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875499G>C" "" "benign" "" "0000267871" "0" "10" "13" "103527930" "103527930" "subst" "0.999401" "02325" "ERCC5_000057" "g.103527930G>C" "" "" "" "BIVM-ERCC5(NM_001204425.2):c.4600G>C (p.G1534R), ERCC5(NM_000123.4):c.3238G>C (p.G1080R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875580G>C" "" "benign" "" "0000267872" "0" "10" "13" "103528002" "103528002" "subst" "0.276959" "02325" "ERCC5_000059" "g.103528002G>C" "" "" "" "BIVM-ERCC5(NM_001204425.2):c.4672G>C (p.D1558H), ERCC5(NM_000123.3):c.3310G>C (p.D1104H), ERCC5(NM_000123.4):c.3310G>C (p.D1104H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875652G>C" "" "benign" "" "0000267873" "0" "30" "13" "103528048" "103528048" "subst" "0.00118305" "02325" "ERCC5_000060" "g.103528048C>T" "" "" "" "ERCC5(NM_000123.3):c.3356C>T (p.A1119V), ERCC5(NM_000123.4):c.3356C>T (p.A1119V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875698C>T" "" "likely benign" "" "0000267874" "0" "90" "13" "103498666" "103498666" "del" "0" "02325" "ERCC5_000003" "g.103498666del" "" "" "" "ERCC5(NM_000123.4):c.50delT (p.V17Afs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846316del" "" "pathogenic" "" "0000267875" "0" "10" "13" "103511301" "103511301" "subst" "0" "02325" "ERCC5_000015" "g.103511301T>C" "" "" "" "BIVM-ERCC5(NM_001204425.2):c.2034+533T>C, ERCC5(NM_000123.4):c.672+533T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102858951T>C" "" "benign" "" "0000268910" "0" "30" "13" "103514609" "103514609" "subst" "0.00103774" "02329" "ERCC5_000024" "g.103514609T>A" "" "" "" "ERCC5(NM_000123.3):c.1110T>A (p.R370=), ERCC5(NM_000123.4):c.1110T>A (p.R370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862259T>A" "" "likely benign" "" "0000268911" "0" "30" "13" "103514758" "103514758" "subst" "0.00023166" "02329" "ERCC5_000026" "g.103514758G>A" "" "" "" "ERCC5(NM_000123.3):c.1259G>A (p.R420H), ERCC5(NM_000123.4):c.1259G>A (p.R420H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862408G>A" "" "likely benign" "" "0000268912" "0" "10" "13" "103514939" "103514939" "subst" "0.00843581" "02329" "ERCC5_000028" "g.103514939C>T" "" "" "" "ERCC5(NM_000123.3):c.1440C>T (p.H480=), ERCC5(NM_000123.4):c.1440C>T (p.H480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862589C>T" "" "benign" "" "0000268913" "0" "10" "13" "103515085" "103515085" "subst" "0.0426357" "02329" "ERCC5_000030" "g.103515085G>C" "" "" "" "BIVM-ERCC5(NM_001204425.1):c.2948G>C (p.(Cys983Ser)), ERCC5(NM_000123.3):c.1586G>C (p.C529S), ERCC5(NM_000123.4):c.1586G>C (p.C529S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862735G>C" "" "benign" "" "0000268914" "0" "30" "13" "103515267" "103515267" "subst" "0.000597241" "02329" "ERCC5_000033" "g.103515267G>A" "" "" "" "ERCC5(NM_000123.3):c.1768G>A (p.V590I), ERCC5(NM_000123.4):c.1768G>A (p.V590I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862917G>A" "" "likely benign" "" "0000268915" "0" "30" "13" "103515288" "103515288" "subst" "0.00131249" "02329" "ERCC5_000034" "g.103515288G>C" "" "" "" "ERCC5(NM_000123.3):c.1789G>C (p.V597L), ERCC5(NM_000123.4):c.1789G>C (p.V597L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862938G>C" "" "likely benign" "" "0000268916" "0" "30" "13" "103518104" "103518104" "subst" "0" "02329" "ERCC5_000036" "g.103518104G>T" "" "" "" "ERCC5(NM_000123.4):c.2042G>T (p.G681V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102865754G>T" "" "likely benign" "" "0000268917" "0" "10" "13" "103518162" "103518162" "subst" "0.00613858" "02329" "ERCC5_000037" "g.103518162C>A" "" "" "" "ERCC5(NM_000123.4):c.2100C>A (p.L700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102865812C>A" "" "benign" "" "0000268918" "0" "90" "13" "103519015" "103519015" "subst" "0" "02329" "ERCC5_000040" "g.103519015C>T" "" "" "" "ERCC5(NM_000123.3):c.2353C>T (p.Q785*), ERCC5(NM_000123.4):c.2353C>T (p.Q785*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866665C>T" "" "pathogenic" "" "0000268919" "0" "30" "13" "103524647" "103524647" "subst" "0.00293599" "02329" "ERCC5_000046" "g.103524647C>G" "" "" "" "ERCC5(NM_000123.3):c.2778C>G (p.G926=), ERCC5(NM_000123.4):c.2778C>G (p.G926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102872297C>G" "" "likely benign" "" "0000268920" "0" "50" "13" "103524687" "103524687" "subst" "0.000881182" "02329" "ERCC5_000047" "g.103524687G>A" "" "" "" "ERCC5(NM_000123.3):c.2818G>A (p.V940M), ERCC5(NM_000123.4):c.2818G>A (p.V940M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102872337G>A" "" "VUS" "" "0000268921" "0" "30" "13" "103527869" "103527869" "subst" "0.00257151" "02329" "ERCC5_000056" "g.103527869C>T" "" "" "" "ERCC5(NM_000123.3):c.3177C>T (p.G1059=), ERCC5(NM_000123.4):c.3177C>T (p.G1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875519C>T" "" "likely benign" "" "0000268922" "0" "30" "13" "103528121" "103528121" "subst" "4.87753E-5" "02329" "ERCC5_000061" "g.103528121G>A" "" "" "" "ERCC5(NM_000123.4):c.3429G>A (p.A1143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875771G>A" "" "likely benign" "" "0000268923" "0" "10" "13" "103506686" "103506686" "subst" "0.00866193" "02329" "ERCC5_000011" "g.103506686C>G" "" "" "" "ERCC5(NM_000123.3):c.429C>G (p.L143=), ERCC5(NM_000123.4):c.429C>G (p.L143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102854336C>G" "" "benign" "" "0000268924" "0" "50" "13" "103498672" "103498672" "subst" "0.000589184" "02329" "ERCC5_000004" "g.103498672C>T" "" "" "" "ERCC5(NM_000123.4):c.56C>T (p.P19L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846322C>T" "" "VUS" "" "0000268925" "0" "30" "13" "103514444" "103514444" "subst" "0.00284899" "02329" "ERCC5_000022" "g.103514444C>T" "" "" "" "ERCC5(NM_000123.3):c.945C>T (p.H315=), ERCC5(NM_000123.4):c.945C>T (p.H315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862094C>T" "" "likely benign" "" "0000268926" "0" "10" "13" "103514459" "103514459" "subst" "0.0099131" "02329" "ERCC5_000023" "g.103514459C>T" "" "" "" "ERCC5(NM_000123.3):c.960C>T (p.D320=), ERCC5(NM_000123.4):c.960C>T (p.D320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862109C>T" "" "benign" "" "0000276279" "0" "30" "13" "103514609" "103514609" "subst" "0.00103774" "01943" "ERCC5_000024" "g.103514609T>A" "" "" "" "ERCC5(NM_000123.3):c.1110T>A (p.R370=), ERCC5(NM_000123.4):c.1110T>A (p.R370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862259T>A" "" "likely benign" "" "0000276280" "0" "30" "13" "103514827" "103514827" "subst" "0.000154663" "01943" "ERCC5_000027" "g.103514827C>G" "" "" "" "ERCC5(NM_000123.3):c.1328C>G (p.T443S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862477C>G" "" "likely benign" "" "0000276281" "0" "10" "13" "103504517" "103504517" "subst" "0.520009" "01943" "ERCC5_000007" "g.103504517T>C" "" "" "" "BIVM-ERCC5(NM_001204425.2):c.1500T>C (p.H500=), ERCC5(NM_000123.3):c.138T>C (p.H46=), ERCC5(NM_000123.4):c.138T>C (p.H46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852167T>C" "" "benign" "" "0000276282" "0" "10" "13" "103514939" "103514939" "subst" "0.00843581" "01943" "ERCC5_000028" "g.103514939C>T" "" "" "" "ERCC5(NM_000123.3):c.1440C>T (p.H480=), ERCC5(NM_000123.4):c.1440C>T (p.H480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862589C>T" "" "benign" "" "0000276283" "0" "10" "13" "103515085" "103515085" "subst" "0.0426357" "01943" "ERCC5_000030" "g.103515085G>C" "" "" "" "BIVM-ERCC5(NM_001204425.1):c.2948G>C (p.(Cys983Ser)), ERCC5(NM_000123.3):c.1586G>C (p.C529S), ERCC5(NM_000123.4):c.1586G>C (p.C529S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862735G>C" "" "benign" "" "0000276284" "0" "30" "13" "103515288" "103515288" "subst" "0.00131249" "01943" "ERCC5_000034" "g.103515288G>C" "" "" "" "ERCC5(NM_000123.3):c.1789G>C (p.V597L), ERCC5(NM_000123.4):c.1789G>C (p.V597L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862938G>C" "" "likely benign" "" "0000276285" "0" "50" "13" "103515379" "103515379" "subst" "0.00781891" "01943" "ERCC5_000035" "g.103515379C>A" "" "" "" "ERCC5(NM_000123.3):c.1880C>A (p.A627E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102863029C>A" "" "VUS" "" "0000276286" "0" "30" "13" "103518225" "103518225" "subst" "8.94527E-5" "01943" "ERCC5_000038" "g.103518225G>A" "" "" "" "ERCC5(NM_000123.3):c.2163G>A (p.A721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102865875G>A" "" "likely benign" "" "0000276287" "0" "50" "13" "103518693" "103518693" "subst" "0.000458976" "01943" "ERCC5_000039" "g.103518693G>A" "" "" "" "ERCC5(NM_000123.3):c.2281G>A (p.A761T), ERCC5(NM_000123.4):c.2281G>A (p.A761T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866343G>A" "" "VUS" "" "0000276288" "0" "70" "13" "103519015" "103519015" "subst" "0" "01943" "ERCC5_000040" "g.103519015C>T" "" "" "" "ERCC5(NM_000123.3):c.2353C>T (p.Q785*), ERCC5(NM_000123.4):c.2353C>T (p.Q785*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866665C>T" "" "likely pathogenic" "" "0000276289" "0" "30" "13" "103519083" "103519083" "subst" "5.28026E-5" "01943" "ERCC5_000041" "g.103519083C>T" "" "" "" "ERCC5(NM_000123.3):c.2421C>T (p.I807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866733C>T" "" "likely benign" "" "0000276290" "0" "30" "13" "103519116" "103519116" "subst" "0.000284342" "01943" "ERCC5_000042" "g.103519116G>A" "" "" "" "ERCC5(NM_000123.3):c.2454G>A (p.A818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866766G>A" "" "likely benign" "" "0000276291" "0" "30" "13" "103520453" "103520453" "subst" "0.000739506" "01943" "ERCC5_000043" "g.103520453T>G" "" "" "" "ERCC5(NM_000123.3):c.2534-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102868103T>G" "" "likely benign" "" "0000276292" "0" "50" "13" "103520471" "103520471" "subst" "2.43756E-5" "01943" "ERCC5_000044" "g.103520471C>T" "" "" "" "ERCC5(NM_000123.3):c.2542C>T (p.R848W), ERCC5(NM_000123.4):c.2542C>T (p.(Arg848Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102868121C>T" "" "VUS" "" "0000276293" "0" "10" "13" "103504650" "103504650" "subst" "0.016146" "01943" "ERCC5_000008" "g.103504650G>A" "" "" "" "ERCC5(NM_000123.3):c.264+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852300G>A" "" "benign" "" "0000276294" "0" "90" "13" "103524644" "103524644" "del" "0" "01943" "ERCC5_000045" "g.103524644del" "" "" "" "ERCC5(NM_000123.3):c.2775delT (p.G926Afs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102872294del" "" "pathogenic" "" "0000276295" "0" "30" "13" "103524647" "103524647" "subst" "0.00293599" "01943" "ERCC5_000046" "g.103524647C>G" "" "" "" "ERCC5(NM_000123.3):c.2778C>G (p.G926=), ERCC5(NM_000123.4):c.2778C>G (p.G926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102872297C>G" "" "likely benign" "" "0000276296" "0" "50" "13" "103524687" "103524687" "subst" "0.000881182" "01943" "ERCC5_000047" "g.103524687G>A" "" "" "" "ERCC5(NM_000123.3):c.2818G>A (p.V940M), ERCC5(NM_000123.4):c.2818G>A (p.V940M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102872337G>A" "" "VUS" "" "0000276297" "0" "10" "13" "103524762" "103524762" "subst" "0.444251" "01943" "ERCC5_000049" "g.103524762C>T" "" "" "" "BIVM-ERCC5(NM_001204425.2):c.4241+14C>T, ERCC5(NM_000123.3):c.2879+14C>T, ERCC5(NM_000123.4):c.2879+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102872412C>T" "" "benign" "" "0000276298" "0" "30" "13" "103525642" "103525642" "subst" "2.84301E-5" "01943" "ERCC5_000050" "g.103525642G>A" "" "" "" "ERCC5(NM_000123.3):c.2913G>A (p.T971=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102873292G>A" "" "likely benign" "" "0000276299" "0" "30" "13" "103527798" "103527798" "subst" "0.000686406" "01943" "ERCC5_000053" "g.103527798G>A" "" "" "" "ERCC5(NM_000123.3):c.3106G>A (p.A1036T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875448G>A" "" "likely benign" "" "0000276300" "0" "30" "13" "103527837" "103527837" "subst" "0" "01943" "ERCC5_000054" "g.103527837G>A" "" "" "" "ERCC5(NM_000123.3):c.3145G>A (p.D1049N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875487G>A" "" "likely benign" "" "0000276301" "0" "30" "13" "103527869" "103527869" "subst" "0.00257151" "01943" "ERCC5_000056" "g.103527869C>T" "" "" "" "ERCC5(NM_000123.3):c.3177C>T (p.G1059=), ERCC5(NM_000123.4):c.3177C>T (p.G1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875519C>T" "" "likely benign" "" "0000276302" "0" "30" "13" "103506172" "103506172" "subst" "5.28159E-5" "01943" "ERCC5_000009" "g.103506172G>A" "" "" "" "ERCC5(NM_000123.3):c.330G>A (p.L110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102853822G>A" "" "likely benign" "" "0000276303" "0" "10" "13" "103528002" "103528002" "subst" "0.276959" "01943" "ERCC5_000059" "g.103528002G>C" "" "" "" "BIVM-ERCC5(NM_001204425.2):c.4672G>C (p.D1558H), ERCC5(NM_000123.3):c.3310G>C (p.D1104H), ERCC5(NM_000123.4):c.3310G>C (p.D1104H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875652G>C" "" "benign" "" "0000276304" "0" "10" "13" "103506686" "103506686" "subst" "0.00866193" "01943" "ERCC5_000011" "g.103506686C>G" "" "" "" "ERCC5(NM_000123.3):c.429C>G (p.L143=), ERCC5(NM_000123.4):c.429C>G (p.L143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102854336C>G" "" "benign" "" "0000276305" "0" "30" "13" "103510688" "103510688" "subst" "0.000288604" "01943" "ERCC5_000013" "g.103510688C>A" "" "" "" "ERCC5(NM_000123.3):c.592C>A (p.P198T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102858338C>A" "" "likely benign" "" "0000276306" "0" "10" "13" "103510737" "103510737" "subst" "0.000975404" "01943" "ERCC5_000014" "g.103510737G>A" "" "" "" "ERCC5(NM_000123.3):c.641G>A (p.R214H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102858387G>A" "" "benign" "" "0000276307" "0" "30" "13" "103513972" "103513972" "subst" "0.000580951" "01943" "ERCC5_000018" "g.103513972G>A" "" "" "" "ERCC5(NM_000123.3):c.788G>A (p.R263Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102861622G>A" "" "likely benign" "" "0000276308" "0" "30" "13" "103514444" "103514444" "subst" "0.00284899" "01943" "ERCC5_000022" "g.103514444C>T" "" "" "" "ERCC5(NM_000123.3):c.945C>T (p.H315=), ERCC5(NM_000123.4):c.945C>T (p.H315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862094C>T" "" "likely benign" "" "0000276309" "0" "30" "13" "103514459" "103514459" "subst" "0.0099131" "01943" "ERCC5_000023" "g.103514459C>T" "" "" "" "ERCC5(NM_000123.3):c.960C>T (p.D320=), ERCC5(NM_000123.4):c.960C>T (p.D320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862109C>T" "" "likely benign" "" "0000323470" "0" "50" "13" "103510646" "103510646" "subst" "2.43877E-5" "01804" "ERCC5_000012" "g.103510646C>G" "" "" "" "BIVM-ERCC5(NM_001204425.1):c.1912C>G (p.(Gln638Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102858296C>G" "" "VUS" "" "0000323473" "0" "50" "13" "103514431" "103514431" "subst" "7.31606E-5" "01804" "ERCC5_000021" "g.103514431C>G" "" "" "" "BIVM-ERCC5(NM_001204425.1):c.2294C>G (p.(Ser765Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862081C>G" "" "VUS" "" "0000323474" "0" "30" "13" "103515037" "103515037" "subst" "2.03191E-5" "01804" "ERCC5_000029" "g.103515037C>G" "" "" "" "BIVM-ERCC5(NM_001204425.1):c.2900C>G (p.(Ala967Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102862687C>G" "" "likely benign" "" "0000323476" "0" "50" "13" "103525656" "103525656" "subst" "0" "01804" "ERCC5_000051" "g.103525656C>T" "" "" "" "BIVM-ERCC5(NM_001204425.1):c.4289C>T (p.(Ser1430Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102873306C>T" "" "VUS" "" "0000323478" "0" "50" "13" "103527931" "103527931" "subst" "0.000685815" "01804" "ERCC5_000058" "g.103527931G>A" "" "" "" "BIVM-ERCC5(NM_001204425.1):c.4601G>A (p.(Gly1534Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102875581G>A" "" "VUS" "" "0000474400" "10" "90" "13" "103498699" "103498699" "subst" "0" "01503" "ERCC5_000002" "g.103498699C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102846349C>A" "" "pathogenic" "" "0000474401" "10" "90" "13" "103498699" "103498699" "subst" "0" "01503" "ERCC5_000002" "g.103498699C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102846349C>A" "" "pathogenic" "" "0000474402" "21" "90" "13" "103525633" "103525633" "subst" "0" "01503" "ERCC5_000001" "g.103525633G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102873283G>C" "" "pathogenic" "" "0000474403" "21" "90" "13" "103525633" "103525633" "subst" "0" "01503" "ERCC5_000001" "g.103525633G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102873283G>C" "" "pathogenic" "" "0000549696" "0" "50" "13" "103504549" "103504549" "subst" "4.06141E-6" "01943" "BIVM_000002" "g.103504549C>T" "" "" "" "ERCC5(NM_000123.3):c.170C>T (p.T57I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852199C>T" "" "VUS" "" "0000549697" "0" "30" "13" "103506670" "103506670" "subst" "4.06101E-6" "01943" "BIVM_000003" "g.103506670G>A" "" "" "" "ERCC5(NM_000123.3):c.413G>A (p.R138Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102854320G>A" "" "likely benign" "" "0000549698" "0" "30" "13" "103510689" "103510689" "subst" "0" "01943" "BIVM_000004" "g.103510689C>T" "" "" "" "ERCC5(NM_000123.3):c.593C>T (p.P198L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102858339C>T" "" "likely benign" "" "0000549699" "0" "50" "13" "103510736" "103510736" "subst" "0.00281244" "01943" "BIVM_000005" "g.103510736C>T" "" "" "" "ERCC5(NM_000123.3):c.640C>T (p.R214C), ERCC5(NM_000123.4):c.640C>T (p.R214C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102858386C>T" "" "VUS" "" "0000549700" "0" "10" "13" "103510736" "103510736" "subst" "0.00281244" "02329" "BIVM_000005" "g.103510736C>T" "" "" "" "ERCC5(NM_000123.3):c.640C>T (p.R214C), ERCC5(NM_000123.4):c.640C>T (p.R214C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102858386C>T" "" "benign" "" "0000549702" "0" "30" "13" "103514786" "103514786" "subst" "0.000756141" "01943" "BIVM_000006" "g.103514786T>C" "" "" "" "ERCC5(NM_000123.3):c.1287T>C (p.D429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102862436T>C" "" "likely benign" "" "0000549703" "0" "30" "13" "103515056" "103515056" "subst" "0" "01943" "BIVM_000007" "g.103515056A>C" "" "" "" "ERCC5(NM_000123.3):c.1557A>C (p.G519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102862706A>C" "" "likely benign" "" "0000549704" "0" "10" "13" "103515085" "103515085" "subst" "0.0426357" "01804" "ERCC5_000030" "g.103515085G>C" "" "" "" "BIVM-ERCC5(NM_001204425.1):c.2948G>C (p.(Cys983Ser)), ERCC5(NM_000123.3):c.1586G>C (p.C529S), ERCC5(NM_000123.4):c.1586G>C (p.C529S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102862735G>C" "" "benign" "" "0000549706" "0" "30" "13" "103515410" "103515410" "subst" "4.47442E-5" "01943" "BIVM_000009" "g.103515410C>T" "" "" "" "ERCC5(NM_000123.3):c.1911C>T (p.A637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102863060C>T" "" "likely benign" "" "0000549707" "0" "30" "13" "103518275" "103518275" "subst" "0.000102143" "01943" "BIVM_000010" "g.103518275A>G" "" "" "" "ERCC5(NM_000123.3):c.2199+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102865925A>G" "" "likely benign" "" "0000549709" "0" "50" "13" "103520565" "103520565" "subst" "0.00992431" "01943" "BIVM_000011" "g.103520565A>G" "" "" "" "ERCC5(NM_000123.3):c.2636A>G (p.N879S), ERCC5(NM_000123.4):c.2636A>G (p.N879S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102868215A>G" "" "VUS" "" "0000549710" "0" "10" "13" "103520565" "103520565" "subst" "0.00992431" "02329" "BIVM_000011" "g.103520565A>G" "" "" "" "ERCC5(NM_000123.3):c.2636A>G (p.N879S), ERCC5(NM_000123.4):c.2636A>G (p.N879S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102868215A>G" "" "benign" "" "0000549712" "0" "10" "13" "103524637" "103524637" "subst" "4.87298E-5" "01943" "BIVM_000013" "g.103524637T>C" "" "" "" "ERCC5(NM_000123.3):c.2768T>C (p.L923P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102872287T>C" "" "benign" "" "0000549714" "0" "30" "13" "103528202" "103528202" "subst" "1.23076E-5" "01943" "BIVM_000015" "g.103528202G>A" "" "" "" "ERCC5(NM_000123.3):c.3510G>A (p.G1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102875852G>A" "" "likely benign" "" "0000614472" "0" "50" "13" "103514425" "103514425" "subst" "0" "01943" "BIVM_000017" "g.103514425C>T" "" "" "" "ERCC5(NM_000123.3):c.926C>T (p.P309L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102862075C>T" "" "VUS" "" "0000614474" "0" "30" "13" "103519044" "103519044" "subst" "8.12671E-6" "01943" "BIVM_000020" "g.103519044C>T" "" "" "" "ERCC5(NM_000123.3):c.2382C>T (p.C794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102866694C>T" "" "likely benign" "" "0000614475" "0" "90" "13" "103519075" "103519075" "subst" "1.21854E-5" "02325" "BIVM_000021" "g.103519075G>A" "" "" "" "ERCC5(NM_000123.4):c.2413G>A (p.G805R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102866725G>A" "" "pathogenic" "" "0000614476" "0" "30" "13" "103527687" "103527687" "subst" "0.000199127" "01943" "BIVM_000022" "g.103527687T>G" "" "" "" "ERCC5(NM_000123.3):c.2995T>G (p.L999V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102875337T>G" "" "likely benign" "" "0000614477" "0" "30" "13" "103527697" "103527697" "subst" "4.47064E-5" "01943" "BIVM_000023" "g.103527697A>G" "" "" "" "ERCC5(NM_000123.3):c.3005A>G (p.Q1002R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102875347A>G" "" "likely benign" "" "0000623014" "0" "30" "13" "103510688" "103510688" "subst" "0.000219501" "01943" "BIVM_000016" "g.103510688C>G" "" "" "" "ERCC5(NM_000123.3):c.592C>G (p.P198A), ERCC5(NM_000123.4):c.592C>G (p.P198A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102858338C>G" "" "likely benign" "" "0000623015" "0" "30" "13" "103514724" "103514724" "subst" "3.65756E-5" "01943" "BIVM_000018" "g.103514724G>A" "" "" "" "ERCC5(NM_000123.3):c.1225G>A (p.V409M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102862374G>A" "" "likely benign" "" "0000648689" "1" "30" "13" "103513944" "103513944" "subst" "0.0298396" "03575" "ERCC5_000016" "g.103513944A>G" "181/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "181 heterozygous; {DB:CLININrs1047769}" "Germline" "" "rs1047769" "0" "" "" "g.102861594A>G" "" "likely benign" "" "0000648690" "1" "50" "13" "103520565" "103520565" "subst" "0.00992431" "03575" "BIVM_000011" "g.103520565A>G" "22/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 22 heterozygous, no homozygous; {DB:CLININrs4150342}" "Germline" "" "rs4150342" "0" "" "" "g.102868215A>G" "" "VUS" "" "0000657234" "0" "30" "13" "103514758" "103514758" "subst" "0.00023166" "01943" "ERCC5_000026" "g.103514758G>A" "" "" "" "ERCC5(NM_000123.3):c.1259G>A (p.R420H), ERCC5(NM_000123.4):c.1259G>A (p.R420H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102862408G>A" "" "likely benign" "" "0000657235" "0" "30" "13" "103515237" "103515237" "subst" "0" "01943" "BIVM_000024" "g.103515237C>G" "" "" "" "ERCC5(NM_000123.3):c.1738C>G (p.P580A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102862887C>G" "" "likely benign" "" "0000657236" "0" "30" "13" "103515267" "103515267" "subst" "0.000597241" "01943" "ERCC5_000033" "g.103515267G>A" "" "" "" "ERCC5(NM_000123.3):c.1768G>A (p.V590I), ERCC5(NM_000123.4):c.1768G>A (p.V590I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102862917G>A" "" "likely benign" "" "0000669209" "3" "30" "13" "103513944" "103513944" "subst" "0.0298396" "03575" "ERCC5_000016" "g.103513944A>G" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs1047769}" "Germline" "" "rs1047769" "0" "" "" "g.102861594A>G" "" "likely benign" "" "0000679707" "0" "30" "13" "103504513" "103504513" "subst" "8.53027E-5" "01943" "BIVM_000026" "g.103504513G>A" "" "" "" "ERCC5(NM_000123.3):c.134G>A (p.R45H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679708" "0" "30" "13" "103510638" "103510638" "subst" "0.000272338" "01943" "BIVM_000027" "g.103510638A>G" "" "" "" "ERCC5(NM_000123.3):c.542A>G (p.H181R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679709" "0" "30" "13" "103514998" "103514998" "subst" "0.000239993" "01943" "BIVM_000028" "g.103514998G>A" "" "" "" "ERCC5(NM_000123.3):c.1499G>A (p.R500Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679710" "0" "30" "13" "103518170" "103518170" "subst" "0.000284361" "01943" "BIVM_000029" "g.103518170A>G" "" "" "" "ERCC5(NM_000123.3):c.2108A>G (p.D703G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679711" "0" "50" "13" "103524706" "103524706" "subst" "4.06078E-6" "01943" "BIVM_000030" "g.103524706G>A" "" "" "" "ERCC5(NM_000123.3):c.2837G>A (p.G946E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679712" "0" "30" "13" "103524707" "103524707" "subst" "0" "01943" "BIVM_000031" "g.103524707A>G" "" "" "" "ERCC5(NM_000123.3):c.2838A>G (p.G946=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679713" "0" "30" "13" "103527718" "103527718" "subst" "0.000142235" "01943" "BIVM_000032" "g.103527718G>A" "" "" "" "ERCC5(NM_000123.3):c.3026G>A (p.R1009H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724327" "0" "50" "13" "103528104" "103528104" "subst" "9.753E-5" "02329" "BIVM_000025" "g.103528104G>A" "" "" "" "ERCC5(NM_000123.3):c.3412G>A (p.V1138M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806002" "0" "30" "13" "103514608" "103514608" "subst" "2.84861E-5" "01943" "ERCC5_000065" "g.103514608G>A" "" "" "" "ERCC5(NM_000123.3):c.1109G>A (p.R370H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806003" "0" "30" "13" "103528048" "103528048" "subst" "0.00118305" "02326" "ERCC5_000060" "g.103528048C>T" "" "" "" "ERCC5(NM_000123.3):c.3356C>T (p.A1119V), ERCC5(NM_000123.4):c.3356C>T (p.A1119V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890864" "0" "10" "13" "103524647" "103524647" "subst" "0.00293599" "02326" "ERCC5_000046" "g.103524647C>G" "" "" "" "ERCC5(NM_000123.3):c.2778C>G (p.G926=), ERCC5(NM_000123.4):c.2778C>G (p.G926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000933094" "3" "90" "13" "103504515" "103504515" "del" "0" "00006" "ERCC5_000066" "g.103504515del" "" "{PMID:Fassihi 2016:26884178}" "" "136delC" "" "Germline" "" "" "0" "" "" "g.102852165del" "" "pathogenic (recessive)" "" "0000933095" "1" "90" "13" "103519045" "103519045" "subst" "2.84412E-5" "00006" "ERCC5_000071" "g.103519045G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.102866695G>A" "" "pathogenic (recessive)" "" "0000933096" "3" "90" "13" "103504644" "103504644" "del" "0" "00006" "ERCC5_000067" "g.103504644del" "" "{PMID:Fassihi 2016:26884178}" "" "264+1delG" "" "Germline" "" "" "0" "" "" "g.102852294del" "" "pathogenic (recessive)" "" "0000933097" "3" "90" "13" "103504644" "103504644" "del" "0" "00006" "ERCC5_000067" "g.103504644del" "" "{PMID:Fassihi 2016:26884178}" "" "264+1delG" "" "Germline" "" "" "0" "" "" "g.102852294del" "" "pathogenic (recessive)" "" "0000933098" "1" "90" "13" "103519115" "103519115" "subst" "4.46842E-5" "00006" "ERCC5_000072" "g.103519115C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.102866765C>T" "" "pathogenic (recessive)" "" "0000933099" "1" "90" "13" "103519115" "103519115" "subst" "4.46842E-5" "00006" "ERCC5_000072" "g.103519115C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.102866765C>T" "" "pathogenic (recessive)" "" "0000933100" "1" "90" "13" "103519115" "103519115" "subst" "4.46842E-5" "00006" "ERCC5_000072" "g.103519115C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.102866765C>T" "" "pathogenic (recessive)" "" "0000933101" "3" "90" "13" "103514053" "103514053" "subst" "0" "00006" "ERCC5_000068" "g.103514053T>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.102861703T>A" "" "pathogenic (recessive)" "" "0000933137" "2" "90" "13" "103515341" "103515341" "del" "0" "00006" "ERCC5_000070" "g.103515341del" "" "{PMID:Fassihi 2016:26884178}" "" "1842delT" "" "Germline" "" "" "0" "" "" "g.102862991del" "" "pathogenic (recessive)" "" "0000933138" "2" "90" "13" "103520515" "103520516" "del" "0" "00006" "ERCC5_000073" "g.103520515_103520516del" "" "{PMID:Fassihi 2016:26884178}" "" "2586_2587delTA" "" "Germline" "" "" "0" "" "" "g.102868165_102868166del" "" "pathogenic (recessive)" "" "0000933139" "2" "90" "13" "103515252" "103515252" "subst" "0" "00006" "ERCC5_000069" "g.103515252G>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.102862902G>T" "" "pathogenic (recessive)" "" "0000933140" "2" "90" "13" "103515252" "103515252" "subst" "0" "00006" "ERCC5_000069" "g.103515252G>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.102862902G>T" "" "pathogenic (recessive)" "" "0000957622" "0" "90" "13" "103528248" "103528248" "del" "0" "04599" "ERCC5_000074" "g.103528248del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102875898del" "" "pathogenic" "ACMG" "0000967132" "0" "30" "13" "103528048" "103528048" "subst" "0.00118305" "02329" "ERCC5_000060" "g.103528048C>T" "" "" "" "ERCC5(NM_000123.3):c.3356C>T (p.A1119V), ERCC5(NM_000123.4):c.3356C>T (p.A1119V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000403" "0" "50" "13" "103510688" "103510688" "subst" "0.000219501" "02325" "BIVM_000016" "g.103510688C>G" "" "" "" "ERCC5(NM_000123.3):c.592C>G (p.P198A), ERCC5(NM_000123.4):c.592C>G (p.P198A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030861" "0" "70" "13" "103498642" "103498642" "subst" "0" "03779" "ERCC5_000075" "g.103498642T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001030862" "0" "90" "13" "103513881" "103513884" "del" "0" "03779" "ERCC5_000076" "g.103513881_103513884del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001046402" "0" "90" "13" "103524644" "103524644" "del" "0" "02327" "ERCC5_000045" "g.103524644del" "" "" "" "ERCC5(NM_000123.3):c.2775delT (p.G926Afs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001054715" "0" "50" "13" "103520471" "103520471" "subst" "2.43756E-5" "01804" "ERCC5_000044" "g.103520471C>T" "" "" "" "ERCC5(NM_000123.3):c.2542C>T (p.R848W), ERCC5(NM_000123.4):c.2542C>T (p.(Arg848Trp))" "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 ERCC5 ## Count = 135 "{{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}}" "0000000423" "00000176" "50" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263*)" "" "0000169228" "00000176" "00" "3443" "0" "3443" "0" "c.3443C>G" "r.(?)" "p.(Ser1148Cys)" "" "0000249917" "00000176" "10" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Met254Val)" "" "0000249958" "00000176" "10" "767" "0" "767" "0" "c.767A>G" "r.(?)" "p.(Gln256Arg)" "" "0000250313" "00000176" "30" "378" "0" "378" "0" "c.378A>G" "r.(?)" "p.(Lys126=)" "" "0000250333" "00000176" "30" "1694" "0" "1694" "0" "c.1694A>G" "r.(?)" "p.(Asp565Gly)" "" "0000250358" "00000176" "30" "1147" "0" "1147" "0" "c.1147A>G" "r.(?)" "p.(Ile383Val)" "" "0000253141" "00000176" "10" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Met254Val)" "" "0000254049" "00000176" "30" "767" "0" "767" "0" "c.767A>G" "r.(?)" "p.(Gln256Arg)" "" "0000254243" "00000176" "30" "3546" "0" "3546" "0" "c.3546A>G" "r.(?)" "p.(Arg1182=)" "" "0000254525" "00000176" "30" "76" "0" "76" "0" "c.76A>G" "r.(?)" "p.(Ile26Val)" "" "0000256154" "00000176" "50" "73" "0" "73" "0" "c.73A>G" "r.(?)" "p.(Lys25Glu)" "" "0000267867" "00000176" "10" "138" "0" "138" "0" "c.138T>C" "r.(?)" "p.(His46=)" "" "0000267868" "00000176" "50" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Ala761Thr)" "" "0000267869" "00000176" "10" "2879" "14" "2879" "14" "c.2879+14C>T" "r.(=)" "p.(=)" "" "0000267870" "00000176" "10" "3157" "0" "3157" "0" "c.3157=" "r.(=)" "p.(Arg1053=)" "" "0000267871" "00000176" "10" "3238" "0" "3238" "0" "c.3238=" "r.(=)" "p.(Arg1080=)" "" "0000267872" "00000176" "10" "3310" "0" "3310" "0" "c.3310G>C" "r.(?)" "p.(Asp1104His)" "" "0000267873" "00000176" "30" "3356" "0" "3356" "0" "c.3356C>T" "r.(?)" "p.(Ala1119Val)" "" "0000267874" "00000176" "90" "50" "0" "50" "0" "c.50del" "r.(?)" "p.(Val17AlafsTer19)" "" "0000267875" "00000176" "10" "672" "533" "672" "533" "c.672+533T>C" "r.(=)" "p.(=)" "" "0000268910" "00000176" "30" "1110" "0" "1110" "0" "c.1110T>A" "r.(?)" "p.(Arg370=)" "" "0000268911" "00000176" "30" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Arg420His)" "" "0000268912" "00000176" "10" "1440" "0" "1440" "0" "c.1440C>T" "r.(?)" "p.(His480=)" "" "0000268913" "00000176" "10" "1586" "0" "1586" "0" "c.1586G>C" "r.(?)" "p.(Cys529Ser)" "" "0000268914" "00000176" "30" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Val590Ile)" "" "0000268915" "00000176" "30" "1789" "0" "1789" "0" "c.1789G>C" "r.(?)" "p.(Val597Leu)" "" "0000268916" "00000176" "30" "2042" "0" "2042" "0" "c.2042G>T" "r.(?)" "p.(Gly681Val)" "" "0000268917" "00000176" "10" "2100" "0" "2100" "0" "c.2100C>A" "r.(?)" "p.(Leu700=)" "" "0000268918" "00000176" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Gln785Ter)" "" "0000268919" "00000176" "30" "2778" "0" "2778" "0" "c.2778C>G" "r.(?)" "p.(Gly926=)" "" "0000268920" "00000176" "50" "2818" "0" "2818" "0" "c.2818G>A" "r.(?)" "p.(Val940Met)" "" "0000268921" "00000176" "30" "3177" "0" "3177" "0" "c.3177C>T" "r.(?)" "p.(Gly1059=)" "" "0000268922" "00000176" "30" "3429" "0" "3429" "0" "c.3429G>A" "r.(?)" "p.(Ala1143=)" "" "0000268923" "00000176" "10" "429" "0" "429" "0" "c.429C>G" "r.(?)" "p.(Leu143=)" "" "0000268924" "00000176" "50" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Pro19Leu)" "" "0000268925" "00000176" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(His315=)" "" "0000268926" "00000176" "10" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Asp320=)" "" "0000276279" "00000176" "30" "1110" "0" "1110" "0" "c.1110T>A" "r.(?)" "p.(Arg370=)" "" "0000276280" "00000176" "30" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Thr443Ser)" "" "0000276281" "00000176" "10" "138" "0" "138" "0" "c.138T>C" "r.(?)" "p.(His46=)" "" "0000276282" "00000176" "10" "1440" "0" "1440" "0" "c.1440C>T" "r.(?)" "p.(His480=)" "" "0000276283" "00000176" "10" "1586" "0" "1586" "0" "c.1586G>C" "r.(?)" "p.(Cys529Ser)" "" "0000276284" "00000176" "30" "1789" "0" "1789" "0" "c.1789G>C" "r.(?)" "p.(Val597Leu)" "" "0000276285" "00000176" "50" "1880" "0" "1880" "0" "c.1880C>A" "r.(?)" "p.(Ala627Glu)" "" "0000276286" "00000176" "30" "2163" "0" "2163" "0" "c.2163G>A" "r.(?)" "p.(Ala721=)" "" "0000276287" "00000176" "50" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Ala761Thr)" "" "0000276288" "00000176" "70" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Gln785Ter)" "" "0000276289" "00000176" "30" "2421" "0" "2421" "0" "c.2421C>T" "r.(?)" "p.(Ile807=)" "" "0000276290" "00000176" "30" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Ala818=)" "" "0000276291" "00000176" "30" "2534" "-10" "2534" "-10" "c.2534-10T>G" "r.(=)" "p.(=)" "" "0000276292" "00000176" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" "0000276293" "00000176" "10" "264" "7" "264" "7" "c.264+7G>A" "r.(=)" "p.(=)" "" "0000276294" "00000176" "90" "2775" "0" "2775" "0" "c.2775del" "r.(?)" "p.(Gly926AlafsTer56)" "" "0000276295" "00000176" "30" "2778" "0" "2778" "0" "c.2778C>G" "r.(?)" "p.(Gly926=)" "" "0000276296" "00000176" "50" "2818" "0" "2818" "0" "c.2818G>A" "r.(?)" "p.(Val940Met)" "" "0000276297" "00000176" "10" "2879" "14" "2879" "14" "c.2879+14C>T" "r.(=)" "p.(=)" "" "0000276298" "00000176" "30" "2913" "0" "2913" "0" "c.2913G>A" "r.(?)" "p.(Thr971=)" "" "0000276299" "00000176" "30" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Ala1036Thr)" "" "0000276300" "00000176" "30" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Asp1049Asn)" "" "0000276301" "00000176" "30" "3177" "0" "3177" "0" "c.3177C>T" "r.(?)" "p.(Gly1059=)" "" "0000276302" "00000176" "30" "330" "0" "330" "0" "c.330G>A" "r.(?)" "p.(Leu110=)" "" "0000276303" "00000176" "10" "3310" "0" "3310" "0" "c.3310G>C" "r.(?)" "p.(Asp1104His)" "" "0000276304" "00000176" "10" "429" "0" "429" "0" "c.429C>G" "r.(?)" "p.(Leu143=)" "" "0000276305" "00000176" "30" "592" "0" "592" "0" "c.592C>A" "r.(?)" "p.(Pro198Thr)" "" "0000276306" "00000176" "10" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "0000276307" "00000176" "30" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "" "0000276308" "00000176" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(His315=)" "" "0000276309" "00000176" "30" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Asp320=)" "" "0000323470" "00000176" "50" "550" "0" "550" "0" "c.550C>G" "r.(?)" "p.(Gln184Glu)" "" "0000323473" "00000176" "50" "932" "0" "932" "0" "c.932C>G" "r.(?)" "p.(Ser311Cys)" "" "0000323474" "00000176" "30" "1538" "0" "1538" "0" "c.1538C>G" "r.(?)" "p.(Ala513Gly)" "" "0000323476" "00000176" "50" "2927" "0" "2927" "0" "c.2927C>T" "r.(?)" "p.(Ser976Phe)" "" "0000323478" "00000176" "50" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Gln)" "" "0000474400" "00000176" "90" "83" "0" "83" "0" "c.83C>A" "r.(?)" "p.(Ala28Asp)" "1" "0000474401" "00000176" "90" "83" "0" "83" "0" "c.83C>A" "r.(?)" "p.(Ala28Asp)" "1" "0000474402" "00000176" "90" "2904" "0" "2904" "0" "c.2904G>C" "r.(?)" "p.(Trp968Cys)" "14" "0000474403" "00000176" "90" "2904" "0" "2904" "0" "c.2904G>C" "r.(?)" "p.(Trp968Cys)" "14" "0000549696" "00000176" "50" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "" "0000549697" "00000176" "30" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0000549698" "00000176" "30" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Pro198Leu)" "" "0000549699" "00000176" "50" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "" "0000549700" "00000176" "10" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "" "0000549702" "00000176" "30" "1287" "0" "1287" "0" "c.1287T>C" "r.(?)" "p.(Asp429=)" "" "0000549703" "00000176" "30" "1557" "0" "1557" "0" "c.1557A>C" "r.(?)" "p.(Gly519=)" "" "0000549704" "00000176" "10" "1586" "0" "1586" "0" "c.1586G>C" "r.(?)" "p.(Cys529Ser)" "" "0000549706" "00000176" "30" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Ala637=)" "" "0000549707" "00000176" "30" "2199" "14" "2199" "14" "c.2199+14A>G" "r.(=)" "p.(=)" "" "0000549709" "00000176" "50" "2636" "0" "2636" "0" "c.2636A>G" "r.(?)" "p.(Asn879Ser)" "" "0000549710" "00000176" "10" "2636" "0" "2636" "0" "c.2636A>G" "r.(?)" "p.(Asn879Ser)" "" "0000549712" "00000176" "10" "2768" "0" "2768" "0" "c.2768T>C" "r.(?)" "p.(Leu923Pro)" "" "0000549714" "00000176" "30" "3510" "0" "3510" "0" "c.3510G>A" "r.(?)" "p.(Gly1170=)" "" "0000614472" "00000176" "50" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Pro309Leu)" "" "0000614474" "00000176" "30" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Cys794=)" "" "0000614475" "00000176" "90" "2413" "0" "2413" "0" "c.2413G>A" "r.(?)" "p.(Gly805Arg)" "" "0000614476" "00000176" "30" "2995" "0" "2995" "0" "c.2995T>G" "r.(?)" "p.(Leu999Val)" "" "0000614477" "00000176" "30" "3005" "0" "3005" "0" "c.3005A>G" "r.(?)" "p.(Gln1002Arg)" "" "0000623014" "00000176" "30" "592" "0" "592" "0" "c.592C>G" "r.(?)" "p.(Pro198Ala)" "" "0000623015" "00000176" "30" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Val409Met)" "" "0000648689" "00000176" "30" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Met254Val)" "" "0000648690" "00000176" "50" "2636" "0" "2636" "0" "c.2636A>G" "r.(?)" "p.(Asn879Ser)" "" "0000657234" "00000176" "30" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Arg420His)" "" "0000657235" "00000176" "30" "1738" "0" "1738" "0" "c.1738C>G" "r.(?)" "p.(Pro580Ala)" "" "0000657236" "00000176" "30" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Val590Ile)" "" "0000669209" "00000176" "30" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Met254Val)" "" "0000679707" "00000176" "30" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Arg45His)" "" "0000679708" "00000176" "30" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(His181Arg)" "" "0000679709" "00000176" "30" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Arg500Gln)" "" "0000679710" "00000176" "30" "2108" "0" "2108" "0" "c.2108A>G" "r.(?)" "p.(Asp703Gly)" "" "0000679711" "00000176" "50" "2837" "0" "2837" "0" "c.2837G>A" "r.(?)" "p.(Gly946Glu)" "" "0000679712" "00000176" "30" "2838" "0" "2838" "0" "c.2838A>G" "r.(?)" "p.(Gly946=)" "" "0000679713" "00000176" "30" "3026" "0" "3026" "0" "c.3026G>A" "r.(?)" "p.(Arg1009His)" "" "0000724327" "00000176" "50" "3412" "0" "3412" "0" "c.3412G>A" "r.(?)" "p.(Val1138Met)" "" "0000806002" "00000176" "30" "1109" "0" "1109" "0" "c.1109G>A" "r.(?)" "p.(Arg370His)" "" "0000806003" "00000176" "30" "3356" "0" "3356" "0" "c.3356C>T" "r.(?)" "p.(Ala1119Val)" "" "0000890864" "00000176" "10" "2778" "0" "2778" "0" "c.2778C>G" "r.(?)" "p.(Gly926=)" "" "0000933094" "00000176" "90" "136" "0" "136" "0" "c.136del" "r.(?)" "p.(His46Metfs*5)" "" "0000933095" "00000176" "90" "2383" "0" "2383" "0" "c.2383G>A" "r.(?)" "p.(Ala795Thr)" "" "0000933096" "00000176" "90" "264" "1" "264" "1" "c.264+1del" "r.spl" "p.?" "" "0000933097" "00000176" "90" "264" "1" "264" "1" "c.264+1del" "r.spl" "p.?" "" "0000933098" "00000176" "90" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ala818Val)" "" "0000933099" "00000176" "90" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ala818Val)" "" "0000933100" "00000176" "90" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ala818Val)" "" "0000933101" "00000176" "90" "869" "0" "869" "0" "c.869T>A" "r.(?)" "p.(Ile290Asn)" "" "0000933137" "00000176" "90" "1842" "0" "1842" "0" "c.1842del" "r.(?)" "p.(Leu615Trpfs*17)" "" "0000933138" "00000176" "90" "2586" "0" "2587" "0" "c.2586_2587del" "r.(?)" "p.(Thr863Argfs*17)" "" "0000933139" "00000176" "90" "1753" "0" "1753" "0" "c.1753G>T" "r.(?)" "p.(Glu585*)" "" "0000933140" "00000176" "90" "1753" "0" "1753" "0" "c.1753G>T" "r.(?)" "p.(Glu585*)" "" "0000957622" "00000176" "90" "3556" "0" "3556" "0" "c.3556del" "r.(?)" "p.(Thr1186Profs*3)" "" "0000967132" "00000176" "30" "3356" "0" "3356" "0" "c.3356C>T" "r.(?)" "p.(Ala1119Val)" "" "0001000403" "00000176" "50" "592" "0" "592" "0" "c.592C>G" "r.(?)" "p.(Pro198Ala)" "" "0001030861" "00000176" "70" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "" "0001030862" "00000176" "90" "697" "0" "700" "0" "c.697_700del" "r.(?)" "p.(Gln233SerfsTer10)" "" "0001046402" "00000176" "90" "2775" "0" "2775" "0" "c.2775del" "r.(?)" "p.(Gly926AlafsTer56)" "" "0001054715" "00000176" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000074" "0000000423" "0000104487" "0000169228" "0000232088" "0000474400" "0000232088" "0000474402" "0000232089" "0000474401" "0000232089" "0000474403" "0000292000" "0000648689" "0000292001" "0000648690" "0000305521" "0000669209" "0000437742" "0000933094" "0000437743" "0000933095" "0000437743" "0000933137" "0000437744" "0000933096" "0000437745" "0000933097" "0000437746" "0000933098" "0000437746" "0000933138" "0000437747" "0000933099" "0000437747" "0000933139" "0000437748" "0000933100" "0000437748" "0000933140" "0000437749" "0000933101" "0000445296" "0000957622"