### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ERCC2) # 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}}" "ERCC2" "excision repair cross-complementing rodent repair deficiency, complementation group 2" "19" "q13.3" "unknown" "NG_007067.2" "UD_132084527760" "" "https://www.LOVD.nl/ERCC2" "" "1" "3434" "2068" "126340" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ERCC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-10-09 00:00:00" "00006" "2017-02-04 21:23:08" "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}}" "00007206" "ERCC2" "transcript variant 1" "001" "NM_000400.3" "" "NP_000391.1" "" "" "" "-47" "2521" "2283" "45873845" "45854649" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00747" "XPD" "xeroderma pigmentosum, complementation group D (XPD)" "AR" "278730" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00748" "TTD" "trichothiodystrophy (TTD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-09-10 12:13:45" "00749" "COFS2" "cerebrooculofacioskeletal syndrome, type 2 (COFS-2" "AR" "610756" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04227" "BD" "brachydactyly (BD)" "" "" "" "" "" "00006" "2015-03-14 21:49:37" "" "" "04323" "TTD1" "trichothiodystrophy, type 1, photosentitive (TTD-1)" "AR" "601675" "" "" "" "00006" "2015-09-10 10:25:50" "00006" "2021-12-10 21:51:32" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05596" "XP" "xeroderma pigmentosum (XP)" "" "" "" "" "" "00006" "2019-04-20 16:55:51" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "ERCC2" "00139" "ERCC2" "00747" "ERCC2" "00748" "ERCC2" "00749" "ERCC2" "04323" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00100191" "" "" "" "3" "" "01744" "{PMID:Sun 2016:27984602}" "3-generation family, affected proband, father and uncle" "M" "" "(China)" "" "0" "" "" "" "" "00248199" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00248206" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00260777" "" "" "" "2" "" "00006" "{PMID:Swagemakers 2014:25606444}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamPat" "00292154" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292155" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292156" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304666" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374110" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00406927" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "M" "" "China" "" "0" "" "" "" "375624" "00436177" "" "" "" "3" "" "00006" "{PMID:Ben Rekaya 2018:29169765}" "4-generation family, 3 affected, sister unaffected heterozygous parents/relatives" "F" "" "Tunisia" "" "0" "" "" "" "XP14KA.1" "00436178" "" "" "" "4" "" "00006" "{PMID:Ben Rekaya 2018:29169765}" "5-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "" "XP25K" "00436179" "" "" "" "3" "" "00006" "{PMID:Ben Rekaya 2018:29169765}" "4-generation family, 3 affected sisters, unaffected heterozygous parents/relatives" "F" "yes" "Tunisia" "" "0" "" "" "" "XP125KA" "00436238" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP109BR" "00436239" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP87BR" "00436240" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP70BR" "00436241" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP16BR24" "00436242" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP71BR" "00436243" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP17BR" "00436244" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XPJCLO" "00436245" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP135LO-S" "00436246" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP135LO" "00436247" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP104LO" "00436248" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP59BR" "00436249" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP67BR" "00436250" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "mixed" "XP30BR" "00436251" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "China; Han" "XP97BR" "00443559" "" "" "" "1" "" "04599" "" "" "F" "" "Mexico" "" "" "" "" "Mexican" "UCDMX018" "00444978" "" "" "" "2" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "14DG1268" "00453033" "" "" "" "4" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "5-generation family, 4 affected (3F, M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00100191" "04227" "00248199" "00318" "00248206" "00318" "00260777" "00748" "00292154" "00198" "00292155" "00198" "00292156" "00198" "00304666" "00198" "00374110" "00198" "00406927" "05489" "00436177" "00747" "00436178" "00747" "00436179" "00747" "00436238" "05596" "00436239" "05596" "00436240" "05596" "00436241" "05596" "00436242" "05596" "00436243" "05596" "00436244" "05596" "00436245" "05596" "00436246" "05596" "00436247" "05596" "00436248" "05596" "00436249" "05596" "00436250" "05596" "00436251" "05596" "00443559" "05489" "00444978" "00296" "00453033" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00296, 00318, 00747, 00748, 00749, 04227, 04323, 05489, 05596, 05611 ## Count = 26 "{{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}}" "0000078452" "04227" "00100191" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187208" "00318" "00248199" "01474" "Unknown" "" "60y ductal breast cancer, subtype luminal A" "60y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000187215" "00318" "00248206" "01474" "Unknown" "" "43y ductal breast cancer, subtype luminal A" "43y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000199309" "00748" "00260777" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "TTD-4" "Pollitt syndrome" "" "0000269321" "00198" "00374110" "00006" "Familial, autosomal recessive" "<0d" "26w-fetus, ultrasound intrauterine growth retardation, oligohydramnios, bowel hyperechogenicity; autopsy intrauterine growth retardation, ichthyosis, intervillitis" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000299376" "05489" "00406927" "00006" "Unknown" "64y" "colon cancer (sigmoid), stage III); mismatch repair status proficient; no family history" "" "" "" "" "" "" "" "" "" "colorectal cancer" "" "0000326357" "00747" "00436177" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "XPD" "" "" "0000326358" "00747" "00436178" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "XPD" "" "" "0000326359" "00747" "00436179" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "XPD" "" "" "0000326418" "05596" "00436238" "00006" "Familial, autosomal recessive" "4y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 32" "" "1y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326419" "05596" "00436239" "00006" "Familial, autosomal recessive" "8y" "sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 23" "" "2y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326420" "05596" "00436240" "00006" "Familial, autosomal recessive" "14y" "sunburn severity score 3; 10y-first cancer, squamous cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 4; neuro severity score 6; unscheduled DNA synthesis 10" "" "5y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326421" "05596" "00436241" "00006" "Familial, autosomal recessive" "21y" "sunburn severity score 3; 14y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16" "" "1y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326422" "05596" "00436242" "00006" "Familial, autosomal recessive" "22y" "sunburn severity score 2; 10y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 19" "" "14y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326423" "05596" "00436243" "00006" "Familial, autosomal recessive" "23y" "sunburn severity score 3; 21y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16" "" "2y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326424" "05596" "00436244" "00006" "Familial, autosomal recessive" "26y" "sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 8; unscheduled DNA synthesis 19" "" "1y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326425" "05596" "00436245" "00006" "Familial, autosomal recessive" "34y" "sunburn severity score 3; 13y-first cancer, basal cell carcinoma; no malignant melanoma; 22 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25" "" "5y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326426" "05596" "00436246" "00006" "Familial, autosomal recessive" "35y" "sunburn severity score 3; 12y-first cancer, basal cell carcinoma; 1 malignant melanoma; 50 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25" "" "8y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326427" "05596" "00436247" "00006" "Familial, autosomal recessive" "47y" "sunburn severity score 3; 23y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 7; unscheduled DNA synthesis 13" "" "3y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326428" "05596" "00436248" "00006" "Familial, autosomal recessive" "53y" "sunburn severity score 2; 36y-first cancer, basal cell carcinoma; 5 malignant melanomas; 23 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 3; unscheduled DNA synthesis 24" "" "9y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326429" "05596" "00436249" "00006" "Familial, autosomal recessive" "65y" "sunburn severity score 2; 27y-first cancer, basal cell carcinoma; no malignant melanoma; >40 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 2; unscheduled DNA synthesis 75" "" "55y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326430" "05596" "00436250" "00006" "Familial, autosomal recessive" "21y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 36" "" "4y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000326431" "05596" "00436251" "00006" "Familial, autosomal recessive" "34y" "sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 53" "" "29y" "" "" "" "" "" "" "XPD" "xeroderma pigmentosa" "" "0000332875" "05489" "00443559" "04599" "Unknown" "32" "" "" "" "" "" "" "" "" "" "" "" "" "0000334228" "00296" "00444978" "00006" "Familial, autosomal recessive" "" "pediatric cataract as part of cerebrooculofacioskeletal syndrome; syndromic" "" "" "" "" "" "" "" "" "" "cataract" "" "0000341678" "05611" "00453033" "03566" "Familial, autosomal recessive" "" "severe intellectual disability, developmental delay, delayed speech to absent speech, microcephaly (<1 centile), mild hypotonia, mild facial dysmorphism (large nose with beaked tip)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100595" "00100191" "1" "01744" "01744" "2017-02-03 09:56:10" "" "" "SEQ;SEQ-NG-R" "DNA" "blood" "" "0000249304" "00248199" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000249311" "00248206" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000261882" "00260777" "1" "00006" "00006" "2019-08-06 21:21:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000293322" "00292154" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293323" "00292155" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293324" "00292156" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305795" "00304666" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375303" "00374110" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000408173" "00406927" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000437660" "00436177" "1" "00006" "00006" "2023-08-30 21:25:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437661" "00436178" "1" "00006" "00006" "2023-08-30 21:36:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437662" "00436179" "1" "00006" "00006" "2023-08-30 21:40:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437721" "00436238" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437722" "00436239" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437723" "00436240" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437724" "00436241" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437725" "00436242" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437726" "00436243" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437727" "00436244" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437728" "00436245" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437729" "00436246" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437730" "00436247" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437731" "00436248" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437732" "00436249" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437733" "00436250" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437734" "00436251" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000445052" "00443559" "1" "04599" "04599" "2023-11-29 00:48:28" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000446547" "00444978" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454644" "00453033" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000100595" "HDAC4" "0000100595" "TRPS1" "0000261882" "ERCC2" "0000261882" "MPLKIP" "0000375303" "ERCC2" "0000437721" "ERCC2" "0000437722" "ERCC2" "0000437723" "ERCC2" "0000437724" "ERCC2" "0000437725" "ERCC2" "0000437726" "ERCC2" "0000437727" "ERCC2" "0000437728" "ERCC2" "0000437729" "ERCC2" "0000437730" "ERCC2" "0000437731" "ERCC2" "0000437732" "ERCC2" "0000437733" "ERCC2" "0000437734" "ERCC2" "0000445052" "ERCC2" ## 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 = 225 "{{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}}" "0000168991" "1" "50" "19" "45856546" "45856546" "subst" "0" "00006" "ERCC2_000001" "g.45856546G>C" "" "{PMID:Sun 2016:27984602}" "" "1712G>C (571T>S)" "" "Germline" "" "" "0" "" "" "g.45353288G>C" "" "VUS" "" "0000253938" "0" "10" "19" "45860652" "45860652" "subst" "0" "01943" "ERCC2_000020" "g.45860652A>G" "" "" "" "ERCC2(NM_000400.3):c.1378-23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45357394A>G" "" "benign" "" "0000267864" "0" "10" "19" "45854919" "45854919" "subst" "0.326177" "02325" "ERCC2_000002" "g.45854919T>G" "" "" "" "ERCC2(NM_000400.3):c.2251A>C (p.K751Q), ERCC2(NM_000400.4):c.2251A>C (p.K751Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45351661T>G" "" "benign" "" "0000267865" "0" "10" "19" "45868309" "45868309" "subst" "0.579529" "02325" "ERCC2_000037" "g.45868309T>G" "" "" "" "ERCC2(NM_000400.3):c.468A>C (p.R156=), ERCC2(NM_000400.4):c.468A>C (p.R156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45365051T>G" "" "benign" "" "0000268891" "0" "50" "19" "45855906" "45855906" "subst" "0.00159141" "02329" "ERCC2_000008" "g.45855906G>A" "" "" "" "ERCC2(NM_000400.3):c.1904C>T (p.A635V), ERCC2(NM_000400.4):c.1904C>T (p.A635V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352648G>A" "" "VUS" "" "0000268892" "0" "30" "19" "45855530" "45855530" "subst" "0.000296545" "02329" "ERCC2_000006" "g.45855530G>A" "" "" "" "ERCC2(NM_000400.3):c.2127C>T (p.T709=), ERCC2(NM_000400.4):c.2127C>T (p.T709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352272G>A" "" "likely benign" "" "0000268893" "0" "10" "19" "45867713" "45867713" "subst" "0.000663638" "02329" "ERCC2_000032" "g.45867713G>A" "" "" "" "ERCC2(NM_000400.3):c.687C>T (p.A229=), ERCC2(NM_000400.4):c.687C>T (p.A229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364455G>A" "" "benign" "" "0000268894" "0" "30" "19" "45867701" "45867701" "subst" "0.000737007" "02329" "ERCC2_000031" "g.45867701G>A" "" "" "" "ERCC2(NM_000400.3):c.699C>T (p.F233=), ERCC2(NM_000400.4):c.699C>T (p.F233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364443G>A" "" "likely benign" "" "0000268895" "0" "10" "19" "45867676" "45867676" "subst" "0.00807681" "02329" "ERCC2_000030" "g.45867676C>A" "" "" "" "ERCC2(NM_000400.3):c.718+6G>T, ERCC2(NM_000400.4):c.718+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364418C>A" "" "benign" "" "0000271246" "0" "10" "19" "45855455" "45855455" "subst" "0.0049911" "02326" "ERCC2_000003" "g.45855455C>T" "" "" "" "ERCC2(NM_000400.3):c.2190+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352197C>T" "" "benign" "" "0000276246" "0" "50" "19" "45867116" "45867116" "subst" "0" "01943" "ERCC2_000026" "g.45867116G>A" "" "" "" "ERCC2(NM_000400.3):c.1003C>T (p.R335W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45363858G>A" "" "VUS" "" "0000276247" "0" "30" "19" "45864905" "45864905" "subst" "0.000219628" "01943" "ERCC2_000025" "g.45864905C>T" "" "" "" "ERCC2(NM_000400.3):c.1119-5G>A, ERCC2(NM_000400.4):c.1119-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45361647C>T" "" "likely benign" "" "0000276248" "0" "50" "19" "45860760" "45860760" "subst" "0.000190864" "01943" "ERCC2_000022" "g.45860760C>T" "" "" "" "ERCC2(NM_000400.3):c.1349G>A (p.R450H, p.(Arg450His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45357502C>T" "" "VUS" "" "0000276249" "0" "10" "19" "45860724" "45860724" "subst" "0.000450824" "01943" "ERCC2_000021" "g.45860724G>A" "" "" "" "ERCC2(NM_000400.3):c.1377+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45357466G>A" "" "benign" "" "0000276250" "0" "90" "19" "45860626" "45860626" "subst" "0.00122791" "01943" "ERCC2_000019" "g.45860626G>C" "" "" "" "ERCC2(NM_000400.3):c.1381C>G (p.L461V), ERCC2(NM_000400.4):c.1381C>G (p.L461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45357368G>C" "" "pathogenic" "" "0000276251" "0" "50" "19" "45858101" "45858101" "subst" "1.21845E-5" "01943" "ERCC2_000017" "g.45858101G>A" "" "" "" "ERCC2(NM_000400.3):c.1552C>T (p.R518W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45354843G>A" "" "VUS" "" "0000276252" "0" "50" "19" "45858053" "45858053" "subst" "0" "01943" "ERCC2_000016" "g.45858053C>T" "" "" "" "ERCC2(NM_000400.3):c.1600G>A (p.G534S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45354795C>T" "" "VUS" "" "0000276253" "0" "10" "19" "45856612" "45856612" "subst" "0" "01943" "ERCC2_000015" "g.45856612G>A" "" "" "" "ERCC2(NM_000400.3):c.1666-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45353354G>A" "" "benign" "" "0000276254" "0" "30" "19" "45856383" "45856383" "subst" "0.000296772" "01943" "ERCC2_000013" "g.45856383G>A" "" "" "" "ERCC2(NM_000400.3):c.1789C>T (p.L597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45353125G>A" "" "likely benign" "" "0000276255" "0" "90" "19" "45856356" "45856356" "subst" "0" "01943" "ERCC2_000012" "g.45856356C>A" "" "" "" "ERCC2(NM_000400.3):c.1816G>T (p.E606*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45353098C>A" "" "pathogenic" "" "0000276256" "0" "50" "19" "45856059" "45856059" "subst" "8.13068E-6" "01943" "ERCC2_000010" "g.45856059C>T" "" "" "" "ERCC2(NM_000400.3):c.1847G>A (p.R616Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352801C>T" "" "VUS" "" "0000276257" "0" "50" "19" "45855917" "45855917" "subst" "8.13716E-6" "01943" "ERCC2_000009" "g.45855917C>T" "" "" "" "ERCC2(NM_000400.3):c.1903-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352659C>T" "" "VUS" "" "0000276258" "0" "30" "19" "45855905" "45855905" "subst" "0.000223892" "01943" "ERCC2_000007" "g.45855905C>T" "" "" "" "ERCC2(NM_000400.3):c.1905G>A (p.A635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352647C>T" "" "likely benign" "" "0000276259" "0" "30" "19" "45855530" "45855530" "subst" "0.000296545" "01943" "ERCC2_000006" "g.45855530G>A" "" "" "" "ERCC2(NM_000400.3):c.2127C>T (p.T709=), ERCC2(NM_000400.4):c.2127C>T (p.T709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352272G>A" "" "likely benign" "" "0000276260" "0" "90" "19" "45855493" "45855493" "subst" "2.43926E-5" "01943" "ERCC2_000005" "g.45855493G>A" "" "" "" "ERCC2(NM_000400.3):c.2164C>T (p.R722W), ERCC2(NM_000400.4):c.2164C>T (p.R722W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352235G>A" "" "pathogenic" "" "0000276261" "0" "30" "19" "45855468" "45855468" "subst" "6.11172E-5" "01943" "ERCC2_000004" "g.45855468C>T" "" "" "" "ERCC2(NM_000400.3):c.2189G>A (p.R730Q, p.(Arg730Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352210C>T" "" "likely benign" "" "0000276262" "0" "10" "19" "45855455" "45855455" "subst" "0.0049911" "01943" "ERCC2_000003" "g.45855455C>T" "" "" "" "ERCC2(NM_000400.3):c.2190+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352197C>T" "" "benign" "" "0000276263" "0" "10" "19" "45854919" "45854919" "subst" "0.326177" "01943" "ERCC2_000002" "g.45854919T>G" "" "" "" "ERCC2(NM_000400.3):c.2251A>C (p.K751Q), ERCC2(NM_000400.4):c.2251A>C (p.K751Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45351661T>G" "" "benign" "" "0000276264" "0" "10" "19" "45871964" "45871964" "subst" "0.00119264" "01943" "ERCC2_000038" "g.45871964T>C" "" "" "" "ERCC2(NM_000400.3):c.284A>G (p.E95G, p.(Glu95Gly)), ERCC2(NM_000400.4):c.284A>G (p.E95G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45368706T>C" "" "benign" "" "0000276265" "0" "10" "19" "45868309" "45868309" "subst" "0.579529" "01943" "ERCC2_000037" "g.45868309T>G" "" "" "" "ERCC2(NM_000400.3):c.468A>C (p.R156=), ERCC2(NM_000400.4):c.468A>C (p.R156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45365051T>G" "" "benign" "" "0000276266" "0" "30" "19" "45868199" "45868199" "subst" "3.66279E-5" "01943" "ERCC2_000036" "g.45868199T>C" "" "" "" "ERCC2(NM_000400.3):c.491A>G (p.H164R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364941T>C" "" "likely benign" "" "0000276267" "0" "30" "19" "45868145" "45868145" "subst" "0.000610029" "01943" "ERCC2_000034" "g.45868145G>A" "" "" "" "ERCC2(NM_000400.3):c.545C>T (p.A182V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364887G>A" "" "likely benign" "" "0000276268" "0" "30" "19" "45867816" "45867816" "subst" "2.88393E-5" "01943" "ERCC2_000033" "g.45867816G>A" "" "" "" "ERCC2(NM_000400.3):c.595-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364558G>A" "" "likely benign" "" "0000276269" "0" "30" "19" "45867713" "45867713" "subst" "0.000663638" "01943" "ERCC2_000032" "g.45867713G>A" "" "" "" "ERCC2(NM_000400.3):c.687C>T (p.A229=), ERCC2(NM_000400.4):c.687C>T (p.A229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364455G>A" "" "likely benign" "" "0000276270" "0" "30" "19" "45867701" "45867701" "subst" "0.000737007" "01943" "ERCC2_000031" "g.45867701G>A" "" "" "" "ERCC2(NM_000400.3):c.699C>T (p.F233=), ERCC2(NM_000400.4):c.699C>T (p.F233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364443G>A" "" "likely benign" "" "0000276271" "0" "10" "19" "45867676" "45867676" "subst" "0.00807681" "01943" "ERCC2_000030" "g.45867676C>A" "" "" "" "ERCC2(NM_000400.3):c.718+6G>T, ERCC2(NM_000400.4):c.718+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364418C>A" "" "benign" "" "0000276273" "0" "50" "19" "45867145" "45867145" "subst" "0.000663166" "01943" "ERCC2_000027" "g.45867145G>A" "" "" "" "ERCC2(NM_000400.3):c.974C>T (p.T325M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45363887G>A" "" "VUS" "" "0000326595" "0" "30" "19" "45851210" "45851210" "subst" "0" "01804" "KLC3_000002" "g.45851210G>A" "" "" "" "KLC3(NM_177417.2):c.571G>A (p.(Ala191Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45347952G>A" "" "likely benign" "" "0000326596" "0" "50" "19" "45853693" "45853693" "subst" "0" "01804" "KLC3_000003" "g.45853693A>G" "" "" "" "KLC3(NM_177417.2):c.1234+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45350435A>G" "" "VUS" "" "0000326598" "0" "50" "19" "45853696" "45853696" "subst" "0" "01804" "KLC3_000004" "g.45853696C>G" "" "" "" "KLC3(NM_177417.2):c.1234+7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45350438C>G" "" "VUS" "" "0000326599" "0" "50" "19" "45853768" "45853779" "del" "0" "01804" "KLC3_000005" "g.45853768_45853779del" "" "" "" "KLC3(NM_177417.2):c.1235-8_1238del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45350510_45350521del" "" "VUS" "" "0000326600" "0" "50" "19" "45854249" "45854249" "subst" "4.06085E-6" "01804" "KLC3_000006" "g.45854249G>T" "" "" "" "KLC3(NM_177417.2):c.1417G>T (p.(Asp473Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45350991G>T" "" "VUS" "" "0000326601" "0" "50" "19" "45854612" "45854612" "subst" "0.00233257" "01804" "KLC3_000007" "g.45854612C>A" "" "" "" "KLC3(NM_177417.2):c.1512C>A (p.(His504Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45351354C>A" "" "VUS" "" "0000326603" "0" "30" "19" "45855468" "45855468" "subst" "6.11172E-5" "01804" "ERCC2_000004" "g.45855468C>T" "" "" "" "ERCC2(NM_000400.3):c.2189G>A (p.R730Q, p.(Arg730Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352210C>T" "" "likely benign" "" "0000326604" "0" "50" "19" "45856074" "45856074" "subst" "2.84845E-5" "01804" "ERCC2_000011" "g.45856074A>G" "" "" "" "ERCC2(NM_000400.3):c.1832T>C (p.(Val611Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45352816A>G" "" "VUS" "" "0000326605" "0" "50" "19" "45860581" "45860581" "subst" "0.00100403" "01804" "ERCC2_000018" "g.45860581C>T" "" "" "" "ERCC2(NM_000400.3):c.1426G>A (p.V476I, p.(Val476Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45357323C>T" "" "VUS" "" "0000326606" "0" "50" "19" "45860919" "45860919" "subst" "2.84451E-5" "01804" "ERCC2_000023" "g.45860919G>C" "" "" "" "ERCC2(NM_000400.3):c.1276C>G (p.(Pro426Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45357661G>C" "" "VUS" "" "0000326608" "0" "50" "19" "45867575" "45867575" "subst" "2.0348E-5" "01804" "ERCC2_000029" "g.45867575C>T" "" "" "" "ERCC2(NM_000400.3):c.733G>A (p.D245N, p.(Asp245Asn)), ERCC2(NM_000400.4):c.733G>A (p.D245N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364317C>T" "" "VUS" "" "0000326609" "0" "50" "19" "45868194" "45868194" "subst" "8.13974E-6" "01804" "ERCC2_000035" "g.45868194G>A" "" "" "" "ERCC2(NM_000400.3):c.496C>T (p.(Arg166Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45364936G>A" "" "VUS" "" "0000326610" "0" "50" "19" "45871988" "45871988" "subst" "1.23383E-5" "01804" "ERCC2_000039" "g.45871988A>G" "" "" "" "ERCC2(NM_000400.3):c.260T>C (p.L87P, p.(Leu87Pro)), ERCC2(NM_000400.4):c.260T>C (p.L87P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45368730A>G" "" "VUS" "" "0000326611" "0" "50" "19" "45873420" "45873420" "subst" "0" "01804" "ERCC2_000040" "g.45873420G>C" "" "" "" "ERCC2(NM_000400.3):c.76C>G (p.(Arg26Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45370162G>C" "" "VUS" "" "0000343162" "0" "90" "19" "45856371" "45856371" "subst" "4.47475E-5" "02327" "ERCC2_000041" "g.45856371G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45353113G>A" "" "pathogenic" "" "0000567690" "0" "30" "19" "45852778" "45852778" "subst" "0.00087847" "01804" "ERCC2_000045" "g.45852778G>A" "" "" "" "KLC3(NM_177417.2):c.1061G>A (p.(Arg354Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45349520G>A" "" "likely benign" "" "0000567694" "0" "30" "19" "45854983" "45854983" "subst" "0.000417507" "01943" "ERCC2_000049" "g.45854983C>T" "" "" "" "ERCC2(NM_000400.3):c.2191-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45351725C>T" "" "likely benign" "" "0000567696" "0" "90" "19" "45855493" "45855493" "subst" "2.43926E-5" "02327" "ERCC2_000005" "g.45855493G>A" "" "" "" "ERCC2(NM_000400.3):c.2164C>T (p.R722W), ERCC2(NM_000400.4):c.2164C>T (p.R722W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352235G>A" "" "pathogenic" "" "0000567697" "0" "50" "19" "45855507" "45855507" "subst" "0.000321003" "01943" "ERCC2_000050" "g.45855507G>C" "" "" "" "ERCC2(NM_000400.3):c.2150C>G (p.A717G), ERCC2(NM_000400.4):c.2150C>G (p.(Ala717Gly), p.A717G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352249G>C" "" "VUS" "" "0000567698" "0" "70" "19" "45855507" "45855507" "subst" "0.000321003" "01804" "ERCC2_000050" "g.45855507G>C" "" "" "" "ERCC2(NM_000400.3):c.2150C>G (p.A717G), ERCC2(NM_000400.4):c.2150C>G (p.(Ala717Gly), p.A717G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352249G>C" "" "likely pathogenic" "" "0000567699" "0" "90" "19" "45855520" "45855520" "subst" "0" "01943" "ERCC2_000051" "g.45855520C>G" "" "" "" "ERCC2(NM_000400.3):c.2137G>C (p.G713R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352262C>G" "" "pathogenic" "" "0000567700" "0" "10" "19" "45855524" "45855524" "subst" "0.283359" "01943" "ERCC2_000052" "g.45855524G>A" "" "" "" "ERCC2(NM_000400.3):c.2133C>T (p.D711=), ERCC2(NM_000400.4):c.2133C>T (p.D711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352266G>A" "" "benign" "" "0000567701" "0" "10" "19" "45855524" "45855524" "subst" "0.283359" "02325" "ERCC2_000052" "g.45855524G>A" "" "" "" "ERCC2(NM_000400.3):c.2133C>T (p.D711=), ERCC2(NM_000400.4):c.2133C>T (p.D711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352266G>A" "" "benign" "" "0000567702" "0" "50" "19" "45855601" "45855601" "subst" "6.09657E-5" "01943" "ERCC2_000053" "g.45855601G>A" "" "" "" "ERCC2(NM_000400.3):c.2056C>T (p.R686C), ERCC2(NM_000400.4):c.2056C>T (p.R686C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352343G>A" "" "VUS" "" "0000567703" "0" "70" "19" "45855601" "45855601" "subst" "6.09657E-5" "02329" "ERCC2_000053" "g.45855601G>A" "" "" "" "ERCC2(NM_000400.3):c.2056C>T (p.R686C), ERCC2(NM_000400.4):c.2056C>T (p.R686C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352343G>A" "" "likely pathogenic" "" "0000567704" "0" "30" "19" "45856013" "45856013" "subst" "0.000146249" "01943" "ERCC2_000054" "g.45856013G>A" "" "" "" "ERCC2(NM_000400.3):c.1893C>T (p.R631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352755G>A" "" "likely benign" "" "0000567705" "0" "90" "19" "45856039" "45856039" "dup" "0" "02329" "ERCC2_000055" "g.45856039dup" "" "" "" "ERCC2(NM_000400.4):c.1867dupG (p.V623Gfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352781dup" "" "pathogenic" "" "0000567706" "0" "70" "19" "45856059" "45856059" "subst" "8.13068E-6" "02327" "ERCC2_000010" "g.45856059C>T" "" "" "" "ERCC2(NM_000400.3):c.1847G>A (p.R616Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352801C>T" "" "likely pathogenic" "" "0000567707" "0" "50" "19" "45856060" "45856060" "subst" "5.69166E-5" "01943" "ERCC2_000056" "g.45856060G>A" "" "" "" "ERCC2(NM_000400.3):c.1846C>T (p.R616W), ERCC2(NM_000400.4):c.1846C>T (p.(Arg616Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352802G>A" "" "VUS" "" "0000567708" "0" "10" "19" "45856080" "45856080" "subst" "0.000602724" "01943" "ERCC2_000057" "g.45856080G>A" "" "" "" "ERCC2(NM_000400.3):c.1832-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352822G>A" "" "benign" "" "0000567709" "0" "10" "19" "45856100" "45856100" "subst" "0.0468587" "01943" "ERCC2_000058" "g.45856100G>A" "" "" "" "ERCC2(NM_000400.3):c.1832-26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352842G>A" "" "benign" "" "0000567710" "0" "30" "19" "45856357" "45856357" "subst" "0.000195446" "01943" "ERCC2_000059" "g.45856357G>A" "" "" "" "ERCC2(NM_000400.3):c.1815C>T (p.S605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45353099G>A" "" "likely benign" "" "0000567711" "0" "50" "19" "45856370" "45856370" "subst" "0.000187167" "01943" "ERCC2_000060" "g.45856370C>T" "" "" "" "ERCC2(NM_000400.3):c.1802G>A (p.R601Q), ERCC2(NM_000400.4):c.1802G>A (p.R601Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45353112C>T" "" "VUS" "" "0000567712" "0" "50" "19" "45856370" "45856370" "subst" "0.000187167" "02329" "ERCC2_000060" "g.45856370C>T" "" "" "" "ERCC2(NM_000400.3):c.1802G>A (p.R601Q), ERCC2(NM_000400.4):c.1802G>A (p.R601Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45353112C>T" "" "VUS" "" "0000567713" "0" "30" "19" "45856408" "45856408" "subst" "2.84504E-5" "01943" "ERCC2_000061" "g.45856408G>A" "" "" "" "ERCC2(NM_000400.3):c.1764C>T (p.C588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45353150G>A" "" "likely benign" "" "0000567714" "0" "30" "19" "45856503" "45856503" "subst" "0" "01943" "ERCC2_000014" "g.45856503C>T" "" "" "" "ERCC2(NM_000400.3):c.1755G>A (p.Q585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45353245C>T" "" "likely benign" "" "0000567715" "0" "70" "19" "45858934" "45858934" "subst" "4.06088E-6" "02327" "ERCC2_000063" "g.45858934C>T" "" "" "" "ERCC2(NM_000400.4):c.1532G>A (p.R511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45355676C>T" "" "likely pathogenic" "" "0000567716" "0" "30" "19" "45860509" "45860510" "del" "0" "02326" "ERCC2_000064" "g.45860509_45860510del" "" "" "" "ERCC2(NM_000400.3):c.1479+19_1479+20delGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45357251_45357252del" "" "likely benign" "" "0000567717" "0" "30" "19" "45860571" "45860571" "subst" "0" "01804" "ERCC2_000065" "g.45860571G>A" "" "" "" "ERCC2(NM_000400.3):c.1436C>T (p.(Ala479Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45357313G>A" "" "likely benign" "" "0000567719" "0" "70" "19" "45864887" "45864887" "subst" "1.62529E-5" "02329" "ERCC2_000066" "g.45864887G>A" "" "" "" "ERCC2(NM_000400.4):c.1132C>T (p.R378C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45361629G>A" "" "likely pathogenic" "" "0000567720" "0" "90" "19" "45867102" "45867102" "subst" "0" "01943" "ERCC2_000067" "g.45867102G>C" "" "" "" "ERCC2(NM_000400.3):c.1017C>G (p.Y339*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45363844G>C" "" "pathogenic" "" "0000567721" "0" "10" "19" "45867222" "45867222" "dup" "0" "01943" "ERCC2_000068" "g.45867222dup" "" "" "" "ERCC2(NM_000400.3):c.949+27dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45363964dup" "" "benign" "" "0000567722" "0" "30" "19" "45867223" "45867223" "subst" "0" "01943" "ERCC2_000069" "g.45867223C>T" "" "" "" "ERCC2(NM_000400.3):c.949+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45363965C>T" "" "likely benign" "" "0000567723" "0" "30" "19" "45867247" "45867247" "subst" "0.000104756" "01804" "ERCC2_000070" "g.45867247G>C" "" "" "" "ERCC2(NM_000400.3):c.946C>G (p.(Gln316Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45363989G>C" "" "likely benign" "" "0000567724" "0" "10" "19" "45867259" "45867259" "subst" "0.290746" "01943" "ERCC2_000071" "g.45867259C>T" "" "" "" "ERCC2(NM_000400.3):c.934G>A (p.D312N), ERCC2(NM_000400.4):c.934G>A (p.D312N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364001C>T" "" "benign" "" "0000567725" "0" "10" "19" "45867259" "45867259" "subst" "0.290746" "02325" "ERCC2_000071" "g.45867259C>T" "" "" "" "ERCC2(NM_000400.3):c.934G>A (p.D312N), ERCC2(NM_000400.4):c.934G>A (p.D312N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364001C>T" "" "benign" "" "0000567726" "0" "50" "19" "45867375" "45867375" "subst" "0" "01943" "ERCC2_000072" "g.45867375A>C" "" "" "" "ERCC2(NM_000400.3):c.818T>G (p.I273S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364117A>C" "" "VUS" "" "0000567727" "0" "50" "19" "45867575" "45867575" "subst" "2.0348E-5" "01943" "ERCC2_000029" "g.45867575C>T" "" "" "" "ERCC2(NM_000400.3):c.733G>A (p.D245N, p.(Asp245Asn)), ERCC2(NM_000400.4):c.733G>A (p.D245N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364317C>T" "" "VUS" "" "0000567728" "0" "50" "19" "45867721" "45867721" "subst" "7.73414E-5" "01943" "ERCC2_000073" "g.45867721G>A" "" "" "" "ERCC2(NM_000400.3):c.679C>T (p.R227C), ERCC2(NM_000400.4):c.679C>T (p.R227C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364463G>A" "" "VUS" "" "0000567729" "0" "30" "19" "45867799" "45867799" "subst" "0.00055175" "01943" "ERCC2_000074" "g.45867799G>A" "" "" "" "ERCC2(NM_000400.3):c.601C>T (p.H201Y), ERCC2(NM_000400.4):c.601C>T (p.(His201Tyr), p.H201Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364541G>A" "" "likely benign" "" "0000567730" "0" "30" "19" "45867799" "45867799" "subst" "0.00055175" "02329" "ERCC2_000074" "g.45867799G>A" "" "" "" "ERCC2(NM_000400.3):c.601C>T (p.H201Y), ERCC2(NM_000400.4):c.601C>T (p.(His201Tyr), p.H201Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364541G>A" "" "likely benign" "" "0000567731" "0" "10" "19" "45868291" "45868291" "subst" "0.0247866" "01943" "ERCC2_000075" "g.45868291T>G" "" "" "" "ERCC2(NM_000400.3):c.477+9A>C, ERCC2(NM_000400.4):c.477+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45365033T>G" "" "benign" "" "0000567732" "0" "90" "19" "45868311" "45868311" "subst" "8.14505E-6" "01943" "ERCC2_000076" "g.45868311G>A" "" "" "" "ERCC2(NM_000400.3):c.466C>T (p.R156*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45365053G>A" "" "pathogenic" "" "0000567734" "0" "50" "19" "45868404" "45868404" "subst" "3.66047E-5" "01943" "ERCC2_000078" "g.45868404G>A" "" "" "" "ERCC2(NM_000400.3):c.373C>T (p.R125C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45365146G>A" "" "VUS" "" "0000567735" "0" "70" "19" "45871914" "45871914" "subst" "8.12565E-6" "01943" "ERCC2_000079" "g.45871914G>A" "" "" "" "ERCC2(NM_000400.3):c.334C>T (p.R112C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45368656G>A" "" "likely pathogenic" "" "0000567737" "0" "30" "19" "45871964" "45871964" "subst" "0.00119264" "01804" "ERCC2_000038" "g.45871964T>C" "" "" "" "ERCC2(NM_000400.3):c.284A>G (p.E95G, p.(Glu95Gly)), ERCC2(NM_000400.4):c.284A>G (p.E95G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45368706T>C" "" "likely benign" "" "0000578055" "0" "50" "19" "45872205" "45872206" "del" "0" "01474" "ERCC2_000081" "g.45872205_45872206del" "" "{PMID:Lhota 2016:26822949}" "" "230_231delTG" "" "Germline" "" "" "0" "" "" "g.45368947_45368948del" "" "VUS" "" "0000578063" "0" "50" "19" "45856555" "45856556" "del" "0" "01474" "ERCC2_000062" "g.45856555_45856556del" "" "{PMID:Lhota 2016:26822949}" "" "1703_1704delTT" "" "Germline" "" "" "0" "" "" "g.45353297_45353298del" "" "VUS" "" "0000592000" "0" "50" "19" "45856525" "45856525" "subst" "0" "00006" "ERCC2_000082" "g.45856525C>T" "" "{PMID:Swagemakers 2014:25606444}" "" "S578N" "variant in 1 affected only" "De novo" "no" "" "0" "" "" "g.45353267C>T" "" "VUS" "" "0000617687" "0" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "02327" "ERCC2_000083" "g.45855610G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352352G>A" "" "pathogenic" "" "0000617688" "0" "50" "19" "45856532" "45856532" "subst" "2.43778E-5" "01943" "ERCC2_000085" "g.45856532C>T" "" "" "" "ERCC2(NM_000400.3):c.1726G>A (p.E576K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45353274C>T" "" "VUS" "" "0000617689" "0" "50" "19" "45858100" "45858100" "subst" "1.21844E-5" "01804" "ERCC2_000086" "g.45858100C>T" "" "" "" "ERCC2(NM_000400.3):c.1553G>A (p.R518Q, p.(Arg518Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45354842C>T" "" "VUS" "" "0000617690" "0" "50" "19" "45867588" "45867588" "subst" "2.44172E-5" "01943" "ERCC2_000087" "g.45867588G>C" "" "" "" "ERCC2(NM_000400.3):c.720C>G (p.D240E), ERCC2(NM_000400.4):c.720C>G (p.D240E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364330G>C" "" "VUS" "" "0000617691" "0" "50" "19" "45867588" "45867588" "subst" "2.44172E-5" "02325" "ERCC2_000087" "g.45867588G>C" "" "" "" "ERCC2(NM_000400.3):c.720C>G (p.D240E), ERCC2(NM_000400.4):c.720C>G (p.D240E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364330G>C" "" "VUS" "" "0000617692" "0" "50" "19" "45871988" "45871988" "subst" "1.23383E-5" "01943" "ERCC2_000039" "g.45871988A>G" "" "" "" "ERCC2(NM_000400.3):c.260T>C (p.L87P, p.(Leu87Pro)), ERCC2(NM_000400.4):c.260T>C (p.L87P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45368730A>G" "" "VUS" "" "0000617693" "0" "50" "19" "45871988" "45871988" "subst" "1.23383E-5" "02325" "ERCC2_000039" "g.45871988A>G" "" "" "" "ERCC2(NM_000400.3):c.260T>C (p.L87P, p.(Leu87Pro)), ERCC2(NM_000400.4):c.260T>C (p.L87P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45368730A>G" "" "VUS" "" "0000617694" "0" "30" "19" "45872334" "45872334" "subst" "4.06068E-6" "01943" "ERCC2_000088" "g.45872334G>A" "" "" "" "ERCC2(NM_000400.3):c.177C>T (p.Y59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45369076G>A" "" "likely benign" "" "0000617695" "0" "50" "19" "45873404" "45873404" "subst" "1.62994E-5" "02325" "ERCC2_000089" "g.45873404G>A" "" "" "" "ERCC2(NM_000400.4):c.92C>T (p.T31M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45370146G>A" "" "VUS" "" "0000624035" "0" "30" "19" "45856490" "45856490" "subst" "7.72345E-5" "01943" "ERCC2_000084" "g.45856490G>A" "" "" "" "ERCC2(NM_000400.3):c.1758+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45353232G>A" "" "likely benign" "" "0000624036" "0" "50" "19" "45858100" "45858100" "subst" "1.21844E-5" "01943" "ERCC2_000086" "g.45858100C>T" "" "" "" "ERCC2(NM_000400.3):c.1553G>A (p.R518Q, p.(Arg518Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45354842C>T" "" "VUS" "" "0000650011" "1" "50" "19" "45856019" "45856019" "subst" "0.000174696" "03575" "ERCC2_000090" "g.45856019C>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous; {DB:CLININrs200665173}" "Germline" "" "rs200665173" "0" "" "" "g.45352761C>G" "" "VUS" "" "0000650012" "1" "50" "19" "45867709" "45867709" "subst" "0.000118066" "03575" "ERCC2_000091" "g.45867709C>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs200895828}" "Germline" "" "rs200895828" "0" "" "" "g.45364451C>T" "" "VUS" "" "0000650013" "1" "50" "19" "45873449" "45873449" "subst" "0.000357758" "03575" "ERCC2_000092" "g.45873449T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs147972150}" "Germline" "" "rs147972150" "0" "" "" "g.45370191T>C" "" "VUS" "" "0000658608" "0" "90" "19" "45856059" "45856059" "subst" "0.000138221" "01943" "ERCC2_000093" "g.45856059C>G" "" "" "" "ERCC2(NM_000400.3):c.1847G>C (p.R616P), ERCC2(NM_000400.4):c.1847G>C (p.R616P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45352801C>G" "" "pathogenic" "" "0000658609" "0" "70" "19" "45856352" "45856352" "subst" "0" "01943" "ERCC2_000094" "g.45856352C>T" "" "" "" "ERCC2(NM_000400.3):c.1820G>A (p.G607E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45353094C>T" "" "likely pathogenic" "" "0000658610" "0" "30" "19" "45858009" "45858009" "subst" "0.000166545" "01943" "ERCC2_000095" "g.45858009G>A" "" "" "" "ERCC2(NM_000400.3):c.1644C>T (p.T548=), ERCC2(NM_000400.4):c.1644C>T (p.T548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45354751G>A" "" "likely benign" "" "0000669483" "3" "50" "19" "45856019" "45856019" "subst" "0.000174696" "03575" "ERCC2_000090" "g.45856019C>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs200665173}" "Germline" "" "rs200665173" "0" "" "" "g.45352761C>G" "" "VUS" "" "0000681447" "0" "30" "19" "45855775" "45855775" "subst" "4.06233E-6" "01943" "ERCC2_000096" "g.45855775A>G" "" "" "" "ERCC2(NM_000400.3):c.2035T>C (p.F679L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681448" "0" "50" "19" "45868304" "45868304" "subst" "2.03596E-5" "01943" "ERCC2_000097" "g.45868304T>C" "" "" "" "ERCC2(NM_000400.3):c.473A>G (p.Y158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692832" "0" "50" "19" "45856565" "45856565" "subst" "0" "01943" "ERCC2_000098" "g.45856565T>G" "" "" "" "ERCC2(NM_000400.3):c.1693A>C (p.K565Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692833" "0" "30" "19" "45856578" "45856578" "subst" "3.66482E-5" "01943" "ERCC2_000099" "g.45856578G>A" "" "" "" "ERCC2(NM_000400.3):c.1680C>T (p.N560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692834" "0" "50" "19" "45858047" "45858047" "subst" "0.000182752" "01943" "ERCC2_000100" "g.45858047C>T" "" "" "" "ERCC2(NM_000400.3):c.1606G>A (p.V536M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692835" "0" "30" "19" "45858114" "45858114" "subst" "0" "01943" "ERCC2_000101" "g.45858114A>G" "" "" "" "ERCC2(NM_000400.3):c.1544-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692836" "0" "50" "19" "45860791" "45860791" "subst" "8.12203E-6" "01943" "ERCC2_000102" "g.45860791C>T" "" "" "" "ERCC2(NM_000400.3):c.1318G>A (p.A440T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692837" "0" "50" "19" "45867532" "45867532" "subst" "0" "01943" "ERCC2_000103" "g.45867532C>A" "" "" "" "ERCC2(NM_000400.3):c.776G>T (p.C259F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692838" "0" "50" "19" "45867575" "45867575" "subst" "2.0348E-5" "02325" "ERCC2_000029" "g.45867575C>T" "" "" "" "ERCC2(NM_000400.3):c.733G>A (p.D245N, p.(Asp245Asn)), ERCC2(NM_000400.4):c.733G>A (p.D245N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727430" "0" "90" "19" "45855493" "45855493" "subst" "2.43926E-5" "02329" "ERCC2_000005" "g.45855493G>A" "" "" "" "ERCC2(NM_000400.3):c.2164C>T (p.R722W), ERCC2(NM_000400.4):c.2164C>T (p.R722W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727431" "0" "50" "19" "45856015" "45856015" "subst" "1.62513E-5" "02325" "ERCC2_000104" "g.45856015G>A" "" "" "" "ERCC2(NM_000400.4):c.1891C>T (p.(Arg631Cys), p.R631C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727432" "0" "50" "19" "45862138" "45862138" "subst" "8.2201E-6" "01943" "ERCC2_000105" "g.45862138G>A" "" "" "" "ERCC2(NM_001130867.1):c.1198C>T (p.Q400*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727433" "0" "50" "19" "45867034" "45867034" "subst" "0" "02325" "ERCC2_000106" "g.45867034G>A" "" "" "" "ERCC2(NM_000400.4):c.1085C>T (p.A362V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727434" "0" "50" "19" "45867139" "45867139" "subst" "0" "01943" "ERCC2_000107" "g.45867139T>A" "" "" "" "ERCC2(NM_000400.3):c.980A>T (p.E327V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727435" "0" "30" "19" "45868360" "45868360" "subst" "0.000658729" "01943" "ERCC2_000077" "g.45868360G>C" "" "" "" "ERCC2(NM_000400.3):c.417C>G (p.A139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727436" "0" "30" "19" "45871954" "45871954" "subst" "0.000431157" "01943" "ERCC2_000108" "g.45871954C>G" "" "" "" "ERCC2(NM_000400.3):c.294G>C (p.E98D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727437" "0" "30" "19" "45871956" "45871956" "subst" "4.06656E-6" "01943" "ERCC2_000080" "g.45871956C>T" "" "" "" "ERCC2(NM_000400.3):c.292G>A (p.E98K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727438" "0" "50" "19" "45873449" "45873449" "subst" "0.000357758" "01943" "ERCC2_000092" "g.45873449T>C" "" "" "" "ERCC2(NM_000400.3):c.47A>G (p.Y16C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786644" "1" "90" "19" "45855493" "45855493" "subst" "2.43926E-5" "00006" "ERCC2_000005" "g.45855493G>A" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline" "" "" "0" "" "" "g.45352235G>A" "" "pathogenic" "" "0000786677" "2" "90" "19" "45855565" "45855565" "subst" "0" "00006" "ERCC2_000109" "g.45855565G>A" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline" "" "" "0" "" "" "g.45352307G>A" "" "pathogenic" "" "0000808932" "0" "30" "19" "45855770" "45855770" "subst" "6.90669E-5" "01943" "ERCC2_000110" "g.45855770G>A" "" "" "" "ERCC2(NM_000400.3):c.2040C>T (p.A680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808933" "0" "30" "19" "45855906" "45855906" "subst" "0.00159141" "01943" "ERCC2_000008" "g.45855906G>A" "" "" "" "ERCC2(NM_000400.3):c.1904C>T (p.A635V), ERCC2(NM_000400.4):c.1904C>T (p.A635V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808934" "0" "30" "19" "45856371" "45856371" "subst" "4.06795E-6" "02325" "ERCC2_000111" "g.45856371G>T" "" "" "" "ERCC2(NM_000400.4):c.1801C>A (p.R601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808935" "0" "30" "19" "45862148" "45862148" "subst" "1.6442E-5" "01943" "ERCC2_000112" "g.45862148G>A" "" "" "" "ERCC2(NM_001130867.1):c.1188C>T (p.S396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808936" "0" "50" "19" "45867101" "45867101" "subst" "0" "02325" "ERCC2_000113" "g.45867101C>T" "" "" "" "ERCC2(NM_000400.4):c.1018G>A (p.V340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000845050" "0" "90" "19" "45868093" "45868096" "del" "0" "00006" "ERCC2_000114" "g.45868093_45868096del" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "594+2_594+5delTGAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45364835_45364838del" "" "pathogenic" "" "0000855621" "0" "30" "19" "45857984" "45857984" "subst" "0.000105708" "01943" "ERCC2_000115" "g.45857984G>A" "" "" "" "ERCC2(NM_000400.3):c.1665+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855622" "0" "30" "19" "45860581" "45860581" "subst" "0.00100403" "01943" "ERCC2_000018" "g.45860581C>T" "" "" "" "ERCC2(NM_000400.3):c.1426G>A (p.V476I, p.(Val476Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855623" "0" "30" "19" "45860637" "45860637" "subst" "0.00014661" "01943" "ERCC2_000116" "g.45860637G>A" "" "" "" "ERCC2(NM_000400.3):c.1378-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855624" "0" "30" "19" "45862164" "45862164" "subst" "3.77853E-5" "01943" "ERCC2_000119" "g.45862164G>A" "" "" "" "ERCC2(NM_001130867.1):c.1172C>T (p.A391V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866181" "0" "90" "19" "45855507" "45855507" "subst" "0.000321003" "02327" "ERCC2_000050" "g.45855507G>C" "" "" "" "ERCC2(NM_000400.3):c.2150C>G (p.A717G), ERCC2(NM_000400.4):c.2150C>G (p.(Ala717Gly), p.A717G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866182" "0" "50" "19" "45860626" "45860626" "subst" "0.00122791" "02327" "ERCC2_000019" "g.45860626G>C" "" "" "" "ERCC2(NM_000400.3):c.1381C>G (p.L461V), ERCC2(NM_000400.4):c.1381C>G (p.L461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866183" "0" "50" "19" "45860733" "45860733" "subst" "0" "01943" "ERCC2_000117" "g.45860733C>T" "" "" "" "ERCC2(NM_000400.3):c.1376G>A (p.G459E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866184" "0" "30" "19" "45860928" "45860928" "subst" "0.000312967" "01943" "ERCC2_000118" "g.45860928C>T" "" "" "" "ERCC2(NM_000400.3):c.1267G>A (p.D423N), ERCC2(NM_000400.4):c.1267G>A (p.(Asp423Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866185" "0" "10" "19" "45868291" "45868291" "subst" "0.0247866" "02329" "ERCC2_000075" "g.45868291T>G" "" "" "" "ERCC2(NM_000400.3):c.477+9A>C, ERCC2(NM_000400.4):c.477+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895051" "0" "30" "19" "45860716" "45860716" "subst" "0.000211248" "02326" "ERCC2_000120" "g.45860716G>A" "" "" "" "ERCC2(NM_000400.3):c.1377+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895052" "0" "30" "19" "45867713" "45867713" "subst" "0.000663638" "02326" "ERCC2_000032" "g.45867713G>A" "" "" "" "ERCC2(NM_000400.3):c.687C>T (p.A229=), ERCC2(NM_000400.4):c.687C>T (p.A229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895053" "0" "50" "19" "45867721" "45867721" "subst" "7.73414E-5" "02325" "ERCC2_000073" "g.45867721G>A" "" "" "" "ERCC2(NM_000400.3):c.679C>T (p.R227C), ERCC2(NM_000400.4):c.679C>T (p.R227C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895054" "0" "50" "19" "45868134" "45868134" "subst" "3.66014E-5" "02325" "ERCC2_000121" "g.45868134G>A" "" "" "" "ERCC2(NM_000400.4):c.556C>T (p.R186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915252" "0" "30" "19" "45854983" "45854983" "subst" "0.000417507" "02326" "ERCC2_000049" "g.45854983C>T" "" "" "" "ERCC2(NM_000400.3):c.2191-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915253" "0" "50" "19" "45858929" "45858929" "subst" "0" "02327" "ERCC2_000122" "g.45858929C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915254" "0" "10" "19" "45871964" "45871964" "subst" "0.00119264" "02329" "ERCC2_000038" "g.45871964T>C" "" "" "" "ERCC2(NM_000400.3):c.284A>G (p.E95G, p.(Glu95Gly)), ERCC2(NM_000400.4):c.284A>G (p.E95G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915255" "0" "30" "19" "45873439" "45873439" "subst" "2.84608E-5" "02326" "ERCC2_000123" "g.45873439G>A" "" "" "" "ERCC2(NM_000400.3):c.57C>T (p.P19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926906" "0" "30" "19" "45856383" "45856383" "subst" "0.000296772" "02326" "ERCC2_000013" "g.45856383G>A" "" "" "" "ERCC2(NM_000400.3):c.1789C>T (p.L597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926907" "0" "90" "19" "45856555" "45856556" "del" "0" "02326" "ERCC2_000062" "g.45856555_45856556del" "" "" "" "ERCC2(NM_000400.3):c.1703_1704delTT (p.F568Yfs*2), ERCC2(NM_000400.4):c.1703_1704del (p.(Phe568TyrfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926908" "0" "30" "19" "45867347" "45867347" "subst" "3.19939E-5" "02329" "ERCC2_000124" "g.45867347C>T" "" "" "" "ERCC2(NM_000400.4):c.846G>A (p.R282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931072" "0" "30" "19" "45860636" "45860636" "subst" "2.03734E-5" "02326" "ERCC2_000125" "g.45860636C>T" "" "" "" "ERCC2(NM_000400.3):c.1378-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931073" "0" "30" "19" "45866984" "45866984" "subst" "8.90948E-5" "02326" "ERCC2_000126" "g.45866984G>A" "" "" "" "ERCC2(NM_000400.3):c.1118+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933006" "3" "90" "19" "45855609" "45855609" "subst" "1.62602E-5" "00006" "ERCC2_000127" "g.45855609C>T" "" "{PMID:Ben Rekaya 2018:29169765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45352351C>T" "" "pathogenic (recessive)" "" "0000933008" "3" "90" "19" "45855609" "45855609" "subst" "1.62602E-5" "00006" "ERCC2_000127" "g.45855609C>T" "" "{PMID:Ben Rekaya 2018:29169765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45352351C>T" "" "pathogenic (recessive)" "" "0000933009" "3" "90" "19" "45855609" "45855609" "subst" "1.62602E-5" "00006" "ERCC2_000127" "g.45855609C>T" "" "{PMID:Ben Rekaya 2018:29169765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45352351C>T" "" "pathogenic (recessive)" "" "0000933073" "1" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933074" "1" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933075" "1" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933076" "1" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933077" "1" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933078" "1" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933079" "1" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933080" "3" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933081" "3" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933082" "1" "90" "19" "45855610" "45855610" "subst" "0" "00006" "ERCC2_000083" "g.45855610C>T" "" "{PMID:Fassihi 2016:26884178}" "" "2047G>A (Arg683Trp)" "" "Germline" "" "" "0" "" "" "g.45352352C>T" "" "pathogenic (recessive)" "" "0000933083" "1" "90" "19" "45855610" "45855610" "subst" "5.69198E-5" "00006" "ERCC2_000083" "g.45855610G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352352G>A" "" "pathogenic (recessive)" "" "0000933084" "1" "90" "19" "45858934" "45858934" "subst" "4.06088E-6" "00006" "ERCC2_000063" "g.45858934C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45355676C>T" "" "pathogenic (recessive)" "" "0000933085" "1" "90" "19" "45855609" "45855609" "subst" "1.62602E-5" "00006" "ERCC2_000127" "g.45855609C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352351C>T" "" "pathogenic (recessive)" "" "0000933086" "1" "90" "19" "45855609" "45855609" "subst" "1.62602E-5" "00006" "ERCC2_000127" "g.45855609C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352351C>T" "" "pathogenic (recessive)" "" "0000933122" "2" "50" "19" "45860626" "45860626" "subst" "0.00122791" "00006" "ERCC2_000019" "g.45860626G>C" "" "{PMID:Fassihi 2016:26884178}" "" "1381C>G;2150C>G" "" "Germline" "" "" "0" "" "" "g.45357368G>C" "" "VUS" "" "0000933123" "2" "90" "19" "45856039" "45856039" "dup" "0" "00006" "ERCC2_000055" "g.45856039dup" "" "{PMID:Fassihi 2016:26884178}" "" "1867dupG" "" "Germline" "" "" "0" "" "" "g.45352781dup" "" "pathogenic (recessive)" "" "0000933124" "2" "90" "19" "45867379" "45867379" "subst" "1.26901E-5" "00006" "ERCC2_000131" "g.45867379T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45364121T>C" "" "pathogenic (recessive)" "" "0000933125" "2" "90" "19" "45856059" "45856059" "subst" "8.13068E-6" "00006" "ERCC2_000010" "g.45856059C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352801C>T" "" "pathogenic (recessive)" "" "0000933126" "2" "90" "19" "45867379" "45867379" "subst" "1.26901E-5" "00006" "ERCC2_000131" "g.45867379T>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45364121T>C" "" "pathogenic (recessive)" "" "0000933127" "2" "90" "19" "45856059" "45856059" "subst" "8.13068E-6" "00006" "ERCC2_000010" "g.45856059C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.45352801C>T" "" "pathogenic (recessive)" "" "0000933128" "2" "90" "19" "45855876" "45855877" "del" "0" "00006" "ERCC2_000128" "g.45855876_45855877del" "" "{PMID:Fassihi 2016:26884178}" "" "1933_1934delCA" "" "Germline" "" "" "0" "" "" "g.45352618_45352619del" "" "pathogenic (recessive)" "" "0000933129" "2" "90" "19" "45867681" "45867681" "subst" "0" "00006" "ERCC2_000132" "g.45867681C>A" "" "{PMID:Fassihi 2016:26884178}" "" "718+1C>A" "" "Germline" "" "" "0" "" "" "g.45364423C>A" "" "pathogenic (recessive)" "" "0000933130" "2" "50" "19" "45860626" "45860626" "subst" "0.00122791" "00006" "ERCC2_000019" "g.45860626G>C" "" "{PMID:Fassihi 2016:26884178}" "" "1381C>G;2150C>G" "" "Germline" "" "" "0" "" "" "g.45357368G>C" "" "VUS" "" "0000933131" "2" "50" "19" "45860626" "45860626" "subst" "0.00122791" "00006" "ERCC2_000019" "g.45860626G>C" "" "{PMID:Fassihi 2016:26884178}" "" "1381C>G;2150C>G" "" "Germline" "" "" "0" "" "" "g.45357368G>C" "" "VUS" "" "0000933132" "2" "90" "19" "45856345" "45856345" "del" "8.15641E-6" "00006" "ERCC2_000129" "g.45856345del" "" "{PMID:Fassihi 2016:26884178}" "" "1827delC" "" "Germline" "" "" "0" "" "" "g.45353087del" "" "pathogenic (recessive)" "" "0000933133" "2" "90" "19" "45860627" "45860658" "del" "0" "00006" "ERCC2_000130" "g.45860627_45860658del" "" "{PMID:Fassihi 2016:26884178}" "" "1378-26_1383del32" "" "Germline" "" "" "0" "" "" "g.45357369_45357400del" "" "pathogenic (recessive)" "" "0000933150" "2" "90" "19" "45855507" "45855507" "subst" "0.000321003" "00006" "ERCC2_000050" "g.45855507G>C" "" "{PMID:Fassihi 2016:26884178}" "" "1381C>G;2150C>G" "" "Germline" "" "" "0" "" "" "g.45352249G>C" "" "pathogenic (recessive)" "" "0000933151" "2" "90" "19" "45855507" "45855507" "subst" "0.000321003" "00006" "ERCC2_000050" "g.45855507G>C" "" "{PMID:Fassihi 2016:26884178}" "" "1381C>G;2150C>G" "" "Germline" "" "" "0" "" "" "g.45352249G>C" "" "pathogenic (recessive)" "" "0000933152" "2" "90" "19" "45855507" "45855507" "subst" "0.000321003" "00006" "ERCC2_000050" "g.45855507G>C" "" "{PMID:Fassihi 2016:26884178}" "" "1381C>G;2150C>G" "" "Germline" "" "" "0" "" "" "g.45352249G>C" "" "pathogenic (recessive)" "" "0000951314" "0" "30" "19" "45867145" "45867145" "subst" "0.000663166" "02326" "ERCC2_000027" "g.45867145G>A" "" "" "" "ERCC2(NM_000400.3):c.974C>T (p.T325M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951916" "0" "90" "19" "45854979" "45854979" "subst" "0" "04599" "ERCC2_000133" "g.45854979C>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.45351721C>A" "" "likely pathogenic" "ACMG" "0000954891" "3" "90" "19" "45855813" "45855813" "subst" "0" "00006" "ERCC2_000135" "g.45855813C>T" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45352555C>T" "" "pathogenic (recessive)" "" "0000983531" "0" "90" "19" "45856060" "45856060" "subst" "5.69166E-5" "01804" "ERCC2_000056" "g.45856060G>A" "" "" "" "ERCC2(NM_000400.3):c.1846C>T (p.R616W), ERCC2(NM_000400.4):c.1846C>T (p.(Arg616Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983532" "0" "30" "19" "45860928" "45860928" "subst" "0.000312967" "01804" "ERCC2_000118" "g.45860928C>T" "" "" "" "ERCC2(NM_000400.3):c.1267G>A (p.D423N), ERCC2(NM_000400.4):c.1267G>A (p.(Asp423Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989533" "3" "50" "19" "45860940" "45860940" "subst" "8.13557E-5" "03566" "ERCC2_000136" "g.45860940C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45357682C>T" "" "VUS" "" "0001004878" "0" "30" "19" "45849975" "45849975" "subst" "0.000288505" "01804" "ERCC2_000137" "g.45849975G>T" "" "" "" "KLC3(NM_177417.2):c.432G>T (p.(Lys144Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004879" "0" "90" "19" "45855507" "45855507" "subst" "0.000321003" "02325" "ERCC2_000050" "g.45855507G>C" "" "" "" "ERCC2(NM_000400.3):c.2150C>G (p.A717G), ERCC2(NM_000400.4):c.2150C>G (p.(Ala717Gly), p.A717G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004880" "0" "70" "19" "45856059" "45856059" "subst" "0.000138221" "02325" "ERCC2_000093" "g.45856059C>G" "" "" "" "ERCC2(NM_000400.3):c.1847G>C (p.R616P), ERCC2(NM_000400.4):c.1847G>C (p.R616P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004881" "0" "30" "19" "45858009" "45858009" "subst" "0.000166545" "02329" "ERCC2_000095" "g.45858009G>A" "" "" "" "ERCC2(NM_000400.3):c.1644C>T (p.T548=), ERCC2(NM_000400.4):c.1644C>T (p.T548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004882" "0" "30" "19" "45858112" "45858112" "subst" "4.06204E-6" "02325" "ERCC2_000138" "g.45858112G>A" "" "" "" "ERCC2(NM_000400.4):c.1544-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004883" "0" "70" "19" "45858934" "45858934" "subst" "4.06088E-6" "02325" "ERCC2_000063" "g.45858934C>T" "" "" "" "ERCC2(NM_000400.4):c.1532G>A (p.R511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004884" "0" "50" "19" "45860626" "45860626" "subst" "0.00122791" "02325" "ERCC2_000019" "g.45860626G>C" "" "" "" "ERCC2(NM_000400.3):c.1381C>G (p.L461V), ERCC2(NM_000400.4):c.1381C>G (p.L461V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004885" "0" "50" "19" "45860760" "45860760" "subst" "0.000190864" "01804" "ERCC2_000022" "g.45860760C>T" "" "" "" "ERCC2(NM_000400.3):c.1349G>A (p.R450H, p.(Arg450His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015808" "0" "50" "19" "45873411" "45873411" "subst" "4.07103E-6" "02325" "ERCC2_000139" "g.45873411T>C" "" "" "" "ERCC2(NM_000400.4):c.85A>G (p.K29E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027234" "0" "50" "19" "45856534" "45856534" "subst" "4.06375E-6" "02329" "ERCC2_000140" "g.45856534G>A" "" "" "" "ERCC2(NM_000400.4):c.1724C>T (p.A575V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027235" "0" "30" "19" "45867813" "45867813" "subst" "9.08303E-5" "01943" "ERCC2_000141" "g.45867813G>T" "" "" "" "ERCC2(NM_000400.3):c.595-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027236" "0" "50" "19" "45873797" "45873797" "subst" "0" "02325" "ERCC2_000142" "g.45873797A>G" "" "" "" "ERCC2(NM_000400.4):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027237" "0" "50" "19" "45873798" "45873798" "subst" "2.41117E-5" "02325" "ERCC2_000143" "g.45873798T>C" "" "" "" "ERCC2(NM_000400.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043034" "0" "50" "19" "45856015" "45856015" "subst" "1.62513E-5" "01804" "ERCC2_000104" "g.45856015G>A" "" "" "" "ERCC2(NM_000400.4):c.1891C>T (p.(Arg631Cys), p.R631C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043035" "0" "90" "19" "45856555" "45856556" "del" "0" "01804" "ERCC2_000062" "g.45856555_45856556del" "" "" "" "ERCC2(NM_000400.3):c.1703_1704delTT (p.F568Yfs*2), ERCC2(NM_000400.4):c.1703_1704del (p.(Phe568TyrfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043036" "0" "50" "19" "45862137" "45862137" "dup" "0" "01804" "ERCC2_000144" "g.45862137dup" "" "" "" "ERCC2(NM_001130867.2):c.1204dup (p.(Arg402Lysfs*18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043037" "0" "30" "19" "45868219" "45868219" "subst" "0" "01804" "ERCC2_000145" "g.45868219C>A" "" "" "" "ERCC2(NM_000400.4):c.478-7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043038" "0" "50" "19" "45868335" "45868335" "subst" "7.32398E-5" "01804" "ERCC2_000146" "g.45868335G>A" "" "" "" "ERCC2(NM_000400.4):c.442C>T (p.(His148Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046741" "0" "30" "19" "45864905" "45864905" "subst" "0.000219628" "02325" "ERCC2_000025" "g.45864905C>T" "" "" "" "ERCC2(NM_000400.3):c.1119-5G>A, ERCC2(NM_000400.4):c.1119-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056710" "0" "70" "19" "45855484" "45855484" "subst" "2.03368E-5" "01804" "ERCC2_000147" "g.45855484C>G" "" "" "" "ERCC2(NM_000400.4):c.2173G>C (p.(Ala725Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056711" "0" "50" "19" "45858002" "45858004" "del" "0" "01804" "ERCC2_000148" "g.45858002_45858004del" "" "" "" "ERCC2(NM_000400.4):c.1652_1654del (p.(Ser551del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056712" "0" "50" "19" "45860547" "45860547" "subst" "4.47999E-5" "01804" "ERCC2_000149" "g.45860547C>T" "" "" "" "ERCC2(NM_000400.4):c.1460G>A (p.(Arg487Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056713" "0" "50" "19" "45867309" "45867309" "subst" "0" "01804" "ERCC2_000150" "g.45867309G>A" "" "" "" "ERCC2(NM_000400.4):c.884C>T (p.(Ala295Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056714" "0" "50" "19" "45867799" "45867799" "subst" "0.00055175" "01804" "ERCC2_000074" "g.45867799G>A" "" "" "" "ERCC2(NM_000400.3):c.601C>T (p.H201Y), ERCC2(NM_000400.4):c.601C>T (p.(His201Tyr), p.H201Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056715" "0" "50" "19" "45868349" "45868349" "subst" "0.000130151" "01804" "ERCC2_000151" "g.45868349C>T" "" "" "" "ERCC2(NM_000400.4):c.428G>A (p.(Arg143Gln))" "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 ERCC2 ## Count = 225 "{{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}}" "0000168991" "00007206" "50" "1712" "0" "1712" "0" "c.1712C>G" "r.(?)" "p.(Thr571Ser)" "" "0000253938" "00007206" "10" "1378" "-23" "1378" "-23" "c.1378-23T>C" "r.(=)" "p.(=)" "" "0000267864" "00007206" "10" "2251" "0" "2251" "0" "c.2251A>C" "r.(?)" "p.(Lys751Gln)" "" "0000267865" "00007206" "10" "468" "0" "468" "0" "c.468A>C" "r.(?)" "p.(Arg156=)" "" "0000268891" "00007206" "50" "1904" "0" "1904" "0" "c.1904C>T" "r.(?)" "p.(Ala635Val)" "" "0000268892" "00007206" "30" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Thr709=)" "" "0000268893" "00007206" "10" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Ala229=)" "" "0000268894" "00007206" "30" "699" "0" "699" "0" "c.699C>T" "r.(?)" "p.(Phe233=)" "" "0000268895" "00007206" "10" "718" "6" "718" "6" "c.718+6G>T" "r.(=)" "p.(=)" "" "0000271246" "00007206" "10" "2190" "12" "2190" "12" "c.2190+12G>A" "r.(=)" "p.(=)" "" "0000276246" "00007206" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Trp)" "" "0000276247" "00007206" "30" "1119" "-5" "1119" "-5" "c.1119-5G>A" "r.spl?" "p.?" "" "0000276248" "00007206" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0000276249" "00007206" "10" "1377" "8" "1377" "8" "c.1377+8C>T" "r.(=)" "p.(=)" "" "0000276250" "00007206" "90" "1381" "0" "1381" "0" "c.1381C>G" "r.(?)" "p.(Leu461Val)" "" "0000276251" "00007206" "50" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Trp)" "" "0000276252" "00007206" "50" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Gly534Ser)" "" "0000276253" "00007206" "10" "1666" "-20" "1666" "-20" "c.1666-20C>T" "r.(=)" "p.(=)" "" "0000276254" "00007206" "30" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Leu597=)" "" "0000276255" "00007206" "90" "1816" "0" "1816" "0" "c.1816G>T" "r.(?)" "p.(Glu606Ter)" "" "0000276256" "00007206" "50" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616Gln)" "" "0000276257" "00007206" "50" "1903" "-10" "1903" "-10" "c.1903-10G>A" "r.(=)" "p.(=)" "" "0000276258" "00007206" "30" "1905" "0" "1905" "0" "c.1905G>A" "r.(?)" "p.(Ala635=)" "" "0000276259" "00007206" "30" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Thr709=)" "" "0000276260" "00007206" "90" "2164" "0" "2164" "0" "c.2164C>T" "r.(?)" "p.(Arg722Trp)" "" "0000276261" "00007206" "30" "2189" "0" "2189" "0" "c.2189G>A" "r.(?)" "p.(Arg730Gln)" "" "0000276262" "00007206" "10" "2190" "12" "2190" "12" "c.2190+12G>A" "r.(=)" "p.(=)" "" "0000276263" "00007206" "10" "2251" "0" "2251" "0" "c.2251A>C" "r.(?)" "p.(Lys751Gln)" "" "0000276264" "00007206" "10" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Glu95Gly)" "" "0000276265" "00007206" "10" "468" "0" "468" "0" "c.468A>C" "r.(?)" "p.(Arg156=)" "" "0000276266" "00007206" "30" "491" "0" "491" "0" "c.491A>G" "r.(?)" "p.(His164Arg)" "" "0000276267" "00007206" "30" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Ala182Val)" "" "0000276268" "00007206" "30" "595" "-11" "595" "-11" "c.595-11C>T" "r.(=)" "p.(=)" "" "0000276269" "00007206" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Ala229=)" "" "0000276270" "00007206" "30" "699" "0" "699" "0" "c.699C>T" "r.(?)" "p.(Phe233=)" "" "0000276271" "00007206" "10" "718" "6" "718" "6" "c.718+6G>T" "r.(=)" "p.(=)" "" "0000276273" "00007206" "50" "974" "0" "974" "0" "c.974C>T" "r.(?)" "p.(Thr325Met)" "" "0000326595" "00007206" "30" "5960" "0" "5960" "0" "c.*3677C>T" "r.(=)" "p.(=)" "" "0000326596" "00007206" "50" "3477" "0" "3477" "0" "c.*1194T>C" "r.(=)" "p.(=)" "" "0000326598" "00007206" "50" "3474" "0" "3474" "0" "c.*1191G>C" "r.(=)" "p.(=)" "" "0000326599" "00007206" "50" "3395" "0" "3406" "0" "c.*1112_*1123del" "r.(=)" "p.(=)" "" "0000326600" "00007206" "50" "2921" "0" "2921" "0" "c.*638C>A" "r.(=)" "p.(=)" "" "0000326601" "00007206" "50" "2558" "0" "2558" "0" "c.*275G>T" "r.(=)" "p.(=)" "" "0000326603" "00007206" "30" "2189" "0" "2189" "0" "c.2189G>A" "r.(?)" "p.(Arg730Gln)" "" "0000326604" "00007206" "50" "1832" "0" "1832" "0" "c.1832T>C" "r.(?)" "p.(Val611Ala)" "" "0000326605" "00007206" "50" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Val476Ile)" "" "0000326606" "00007206" "50" "1276" "0" "1276" "0" "c.1276C>G" "r.(?)" "p.(Pro426Ala)" "" "0000326608" "00007206" "50" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "" "0000326609" "00007206" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Cys)" "" "0000326610" "00007206" "50" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "" "0000326611" "00007206" "50" "76" "0" "76" "0" "c.76C>G" "r.(?)" "p.(Arg26Gly)" "" "0000343162" "00007206" "90" "1801" "0" "1801" "0" "c.1801C>T" "r.(?)" "p.(Arg601Trp)" "" "0000567690" "00007206" "30" "4392" "0" "4392" "0" "c.*2109C>T" "r.(=)" "p.(=)" "" "0000567694" "00007206" "30" "2191" "-4" "2191" "-4" "c.2191-4G>A" "r.spl?" "p.?" "" "0000567696" "00007206" "90" "2164" "0" "2164" "0" "c.2164C>T" "r.(?)" "p.(Arg722Trp)" "" "0000567697" "00007206" "50" "2150" "0" "2150" "0" "c.2150C>G" "r.(?)" "p.(Ala717Gly)" "" "0000567698" "00007206" "70" "2150" "0" "2150" "0" "c.2150C>G" "r.(?)" "p.(Ala717Gly)" "" "0000567699" "00007206" "90" "2137" "0" "2137" "0" "c.2137G>C" "r.(?)" "p.(Gly713Arg)" "" "0000567700" "00007206" "10" "2133" "0" "2133" "0" "c.2133C>T" "r.(?)" "p.(Asp711=)" "" "0000567701" "00007206" "10" "2133" "0" "2133" "0" "c.2133C>T" "r.(?)" "p.(Asp711=)" "" "0000567702" "00007206" "50" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Arg686Cys)" "" "0000567703" "00007206" "70" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Arg686Cys)" "" "0000567704" "00007206" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Arg631=)" "" "0000567705" "00007206" "90" "1867" "0" "1867" "0" "c.1867dup" "r.(?)" "p.(Val623GlyfsTer26)" "" "0000567706" "00007206" "70" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616Gln)" "" "0000567707" "00007206" "50" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Arg616Trp)" "" "0000567708" "00007206" "10" "1832" "-6" "1832" "-6" "c.1832-6C>T" "r.(=)" "p.(=)" "" "0000567709" "00007206" "10" "1832" "-26" "1832" "-26" "c.1832-26C>T" "r.(=)" "p.(=)" "" "0000567710" "00007206" "30" "1815" "0" "1815" "0" "c.1815C>T" "r.(?)" "p.(Ser605=)" "" "0000567711" "00007206" "50" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "" "0000567712" "00007206" "50" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "" "0000567713" "00007206" "30" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(Cys588=)" "" "0000567714" "00007206" "30" "1755" "0" "1755" "0" "c.1755G>A" "r.(?)" "p.(Gln585=)" "" "0000567715" "00007206" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0000567716" "00007206" "30" "1479" "19" "1479" "20" "c.1479+19_1479+20del" "r.(=)" "p.(=)" "" "0000567717" "00007206" "30" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Ala479Val)" "" "0000567719" "00007206" "70" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Arg378Cys)" "" "0000567720" "00007206" "90" "1017" "0" "1017" "0" "c.1017C>G" "r.(?)" "p.(Tyr339Ter)" "" "0000567721" "00007206" "10" "949" "27" "949" "27" "c.949+27dup" "r.(=)" "p.(=)" "" "0000567722" "00007206" "30" "949" "21" "949" "21" "c.949+21G>A" "r.(=)" "p.(=)" "" "0000567723" "00007206" "30" "946" "0" "946" "0" "c.946C>G" "r.(?)" "p.(Gln316Glu)" "" "0000567724" "00007206" "10" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Asp312Asn)" "" "0000567725" "00007206" "10" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Asp312Asn)" "" "0000567726" "00007206" "50" "818" "0" "818" "0" "c.818T>G" "r.(?)" "p.(Ile273Ser)" "" "0000567727" "00007206" "50" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "" "0000567728" "00007206" "50" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227Cys)" "" "0000567729" "00007206" "30" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(His201Tyr)" "" "0000567730" "00007206" "30" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(His201Tyr)" "" "0000567731" "00007206" "10" "477" "9" "477" "9" "c.477+9A>C" "r.(=)" "p.(=)" "" "0000567732" "00007206" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Ter)" "" "0000567734" "00007206" "50" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Arg125Cys)" "" "0000567735" "00007206" "70" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Cys)" "" "0000567737" "00007206" "30" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Glu95Gly)" "" "0000578055" "00007206" "00" "230" "0" "231" "0" "c.230_231del" "r.(?)" "p.(Val77Alafs*4)" "" "0000578063" "00007206" "00" "1703" "0" "1704" "0" "c.1703_1704del" "r.(?)" "p.(Phe568Tyrfs*2)" "" "0000592000" "00007206" "50" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Ser578Asn)" "" "0000617687" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000617688" "00007206" "50" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Glu576Lys)" "" "0000617689" "00007206" "50" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "" "0000617690" "00007206" "50" "720" "0" "720" "0" "c.720C>G" "r.(?)" "p.(Asp240Glu)" "" "0000617691" "00007206" "50" "720" "0" "720" "0" "c.720C>G" "r.(?)" "p.(Asp240Glu)" "" "0000617692" "00007206" "50" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "" "0000617693" "00007206" "50" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "" "0000617694" "00007206" "30" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Tyr59=)" "" "0000617695" "00007206" "50" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Thr31Met)" "" "0000624035" "00007206" "30" "1758" "10" "1758" "10" "c.1758+10C>T" "r.(=)" "p.(=)" "" "0000624036" "00007206" "50" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "" "0000650011" "00007206" "50" "1887" "0" "1887" "0" "c.1887G>C" "r.(?)" "p.(Gln629His)" "" "0000650012" "00007206" "50" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Val231Met)" "" "0000650013" "00007206" "50" "47" "0" "47" "0" "c.47A>G" "r.(?)" "p.(Tyr16Cys)" "" "0000658608" "00007206" "90" "1847" "0" "1847" "0" "c.1847G>C" "r.(?)" "p.(Arg616Pro)" "" "0000658609" "00007206" "70" "1820" "0" "1820" "0" "c.1820G>A" "r.(?)" "p.(Gly607Glu)" "" "0000658610" "00007206" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Thr548=)" "" "0000669483" "00007206" "50" "1887" "0" "1887" "0" "c.1887G>C" "r.(?)" "p.(Gln629His)" "" "0000681447" "00007206" "30" "2035" "0" "2035" "0" "c.2035T>C" "r.(?)" "p.(Phe679Leu)" "" "0000681448" "00007206" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Tyr158Cys)" "" "0000692832" "00007206" "50" "1693" "0" "1693" "0" "c.1693A>C" "r.(?)" "p.(Lys565Gln)" "" "0000692833" "00007206" "30" "1680" "0" "1680" "0" "c.1680C>T" "r.(?)" "p.(Asn560=)" "" "0000692834" "00007206" "50" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Val536Met)" "" "0000692835" "00007206" "30" "1544" "-5" "1544" "-5" "c.1544-5T>C" "r.spl?" "p.?" "" "0000692836" "00007206" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Ala440Thr)" "" "0000692837" "00007206" "50" "776" "0" "776" "0" "c.776G>T" "r.(?)" "p.(Cys259Phe)" "" "0000692838" "00007206" "50" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "" "0000727430" "00007206" "90" "2164" "0" "2164" "0" "c.2164C>T" "r.(?)" "p.(Arg722Trp)" "" "0000727431" "00007206" "50" "1891" "0" "1891" "0" "c.1891C>T" "r.(?)" "p.(Arg631Cys)" "" "0000727432" "00007206" "50" "1238" "-1181" "1238" "-1181" "c.1238-1181C>T" "r.(=)" "p.(=)" "" "0000727433" "00007206" "50" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Ala362Val)" "" "0000727434" "00007206" "50" "980" "0" "980" "0" "c.980A>T" "r.(?)" "p.(Glu327Val)" "" "0000727435" "00007206" "30" "417" "0" "417" "0" "c.417C>G" "r.(?)" "p.(Ala139=)" "" "0000727436" "00007206" "30" "294" "0" "294" "0" "c.294G>C" "r.(?)" "p.(Glu98Asp)" "" "0000727437" "00007206" "30" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Glu98Lys)" "" "0000727438" "00007206" "50" "47" "0" "47" "0" "c.47A>G" "r.(?)" "p.(Tyr16Cys)" "" "0000786644" "00007206" "90" "2164" "0" "2164" "0" "c.2164C>T" "r.(?)" "p.(Arg722Trp)" "" "0000786677" "00007206" "90" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Gln698Ter)" "" "0000808932" "00007206" "30" "2040" "0" "2040" "0" "c.2040C>T" "r.(?)" "p.(Ala680=)" "" "0000808933" "00007206" "30" "1904" "0" "1904" "0" "c.1904C>T" "r.(?)" "p.(Ala635Val)" "" "0000808934" "00007206" "30" "1801" "0" "1801" "0" "c.1801C>A" "r.(?)" "p.(Arg601=)" "" "0000808935" "00007206" "30" "1238" "-1191" "1238" "-1191" "c.1238-1191C>T" "r.(=)" "p.(=)" "" "0000808936" "00007206" "50" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Val340Met)" "" "0000845050" "00007206" "90" "594" "2" "594" "5" "c.594+2_594+5del" "r.spl" "p.?" "" "0000855621" "00007206" "30" "1665" "4" "1665" "4" "c.1665+4C>T" "r.spl?" "p.?" "" "0000855622" "00007206" "30" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Val476Ile)" "" "0000855623" "00007206" "30" "1378" "-8" "1378" "-8" "c.1378-8C>T" "r.(=)" "p.(=)" "" "0000855624" "00007206" "30" "1238" "-1207" "1238" "-1207" "c.1238-1207C>T" "r.(=)" "p.(=)" "" "0000866181" "00007206" "90" "2150" "0" "2150" "0" "c.2150C>G" "r.(?)" "p.(Ala717Gly)" "" "0000866182" "00007206" "50" "1381" "0" "1381" "0" "c.1381C>G" "r.(?)" "p.(Leu461Val)" "" "0000866183" "00007206" "50" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Gly459Glu)" "" "0000866184" "00007206" "30" "1267" "0" "1267" "0" "c.1267G>A" "r.(?)" "p.(Asp423Asn)" "" "0000866185" "00007206" "10" "477" "9" "477" "9" "c.477+9A>C" "r.(=)" "p.(=)" "" "0000895051" "00007206" "30" "1377" "16" "1377" "16" "c.1377+16C>T" "r.(=)" "p.(=)" "" "0000895052" "00007206" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Ala229=)" "" "0000895053" "00007206" "50" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227Cys)" "" "0000895054" "00007206" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "" "0000915252" "00007206" "30" "2191" "-4" "2191" "-4" "c.2191-4G>A" "r.spl?" "p.?" "" "0000915253" "00007206" "50" "1537" "0" "1537" "0" "c.1537G>T" "r.(?)" "p.(Asp513Tyr)" "" "0000915254" "00007206" "10" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Glu95Gly)" "" "0000915255" "00007206" "30" "57" "0" "57" "0" "c.57C>T" "r.(?)" "p.(Pro19=)" "" "0000926906" "00007206" "30" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Leu597=)" "" "0000926907" "00007206" "90" "1703" "0" "1704" "0" "c.1703_1704del" "r.(?)" "p.(Phe568Tyrfs*2)" "" "0000926908" "00007206" "30" "846" "0" "846" "0" "c.846G>A" "r.(?)" "p.(Arg282=)" "" "0000931072" "00007206" "30" "1378" "-7" "1378" "-7" "c.1378-7G>A" "r.(=)" "p.(=)" "" "0000931073" "00007206" "30" "1118" "17" "1118" "17" "c.1118+17C>T" "r.(=)" "p.(=)" "" "0000933006" "00007206" "90" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683Gln)" "" "0000933008" "00007206" "90" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683Gln)" "" "0000933009" "00007206" "90" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683Gln)" "" "0000933073" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933074" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933075" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933076" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933077" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933078" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933079" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933080" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933081" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933082" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933083" "00007206" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" "" "0000933084" "00007206" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0000933085" "00007206" "90" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683Gln)" "" "0000933086" "00007206" "90" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683Gln)" "" "0000933122" "00007206" "50" "1381" "0" "1381" "0" "c.1381C>G" "r.(?)" "p.(Leu461Val)" "" "0000933123" "00007206" "90" "1867" "0" "1867" "0" "c.1867dup" "r.(?)" "p.(Val623Glyfs*26)" "" "0000933124" "00007206" "90" "816" "-2" "816" "-2" "c.816-2A>G" "r.spl" "p.?" "" "0000933125" "00007206" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616Gln)" "" "0000933126" "00007206" "90" "816" "-2" "816" "-2" "c.816-2A>G" "r.spl" "p.?" "" "0000933127" "00007206" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616Gln)" "" "0000933128" "00007206" "90" "1933" "0" "1934" "0" "c.1933_1934del" "r.(?)" "p.(Gln645Aspfs*3)" "" "0000933129" "00007206" "90" "718" "1" "718" "1" "c.718+1G>T" "r.spl" "p.?" "" "0000933130" "00007206" "50" "1381" "0" "1381" "0" "c.1381C>G" "r.(?)" "p.(Leu461Val)" "" "0000933131" "00007206" "50" "1381" "0" "1381" "0" "c.1381C>G" "r.(?)" "p.(Leu461Val)" "" "0000933132" "00007206" "90" "1827" "0" "1827" "0" "c.1827del" "r.(?)" "p.(Phe610Leufs*99)" "" "0000933133" "00007206" "90" "1378" "-26" "1383" "0" "c.1378-26_1383del" "r.spl" "p.?" "" "0000933150" "00007206" "90" "2150" "0" "2150" "0" "c.2150C>G" "r.[2146_2190del,=]" "p.[Val716_Arg730del,Ala717Gly]" "" "0000933151" "00007206" "90" "2150" "0" "2150" "0" "c.2150C>G" "r.[2146_2190del,=]" "p.[Val716_Arg730del,Ala717Gly]" "" "0000933152" "00007206" "90" "2150" "0" "2150" "0" "c.2150C>G" "r.[2146_2190del,=]" "p.[Val716_Arg730del,Ala717Gly]" "" "0000951314" "00007206" "30" "974" "0" "974" "0" "c.974C>T" "r.(?)" "p.(Thr325Met)" "" "0000951916" "00007206" "90" "2191" "0" "2191" "0" "c.2191G>T" "r.(?)" "p.(Glu731*)" "" "0000954891" "00007206" "90" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Arg666Gln)" "" "0000983531" "00007206" "90" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Arg616Trp)" "" "0000983532" "00007206" "30" "1267" "0" "1267" "0" "c.1267G>A" "r.(?)" "p.(Asp423Asn)" "" "0000989533" "00007206" "50" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Glu419Lys)" "" "0001004878" "00007206" "30" "7195" "0" "7195" "0" "c.*4912C>A" "r.(=)" "p.(=)" "" "0001004879" "00007206" "90" "2150" "0" "2150" "0" "c.2150C>G" "r.(?)" "p.(Ala717Gly)" "" "0001004880" "00007206" "70" "1847" "0" "1847" "0" "c.1847G>C" "r.(?)" "p.(Arg616Pro)" "" "0001004881" "00007206" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Thr548=)" "" "0001004882" "00007206" "30" "1544" "-3" "1544" "-3" "c.1544-3C>T" "r.spl?" "p.?" "" "0001004883" "00007206" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0001004884" "00007206" "50" "1381" "0" "1381" "0" "c.1381C>G" "r.(?)" "p.(Leu461Val)" "" "0001004885" "00007206" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0001015808" "00007206" "50" "85" "0" "85" "0" "c.85A>G" "r.(?)" "p.(Lys29Glu)" "" "0001027234" "00007206" "50" "1724" "0" "1724" "0" "c.1724C>T" "r.(?)" "p.(Ala575Val)" "" "0001027235" "00007206" "30" "595" "-8" "595" "-8" "c.595-8C>A" "r.(=)" "p.(=)" "" "0001027236" "00007206" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "" "0001027237" "00007206" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0001043034" "00007206" "50" "1891" "0" "1891" "0" "c.1891C>T" "r.(?)" "p.(Arg631Cys)" "" "0001043035" "00007206" "90" "1703" "0" "1704" "0" "c.1703_1704del" "r.(?)" "p.(Phe568Tyrfs*2)" "" "0001043036" "00007206" "50" "1238" "-1175" "1238" "-1175" "c.1238-1175dup" "r.(=)" "p.(=)" "" "0001043037" "00007206" "30" "478" "-7" "478" "-7" "c.478-7G>T" "r.(=)" "p.(=)" "" "0001043038" "00007206" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(His148Tyr)" "" "0001046741" "00007206" "30" "1119" "-5" "1119" "-5" "c.1119-5G>A" "r.spl?" "p.?" "" "0001056710" "00007206" "70" "2173" "0" "2173" "0" "c.2173G>C" "r.(?)" "p.(Ala725Pro)" "" "0001056711" "00007206" "50" "1652" "0" "1654" "0" "c.1652_1654del" "r.(?)" "p.(Ser551del)" "" "0001056712" "00007206" "50" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" "" "0001056713" "00007206" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Ala295Val)" "" "0001056714" "00007206" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(His201Tyr)" "" "0001056715" "00007206" "50" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000100595" "0000168991" "0000249304" "0000578055" "0000249311" "0000578063" "0000261882" "0000592000" "0000293322" "0000650011" "0000293323" "0000650012" "0000293324" "0000650013" "0000305795" "0000669483" "0000375303" "0000786644" "0000375303" "0000786677" "0000408173" "0000845050" "0000437660" "0000933006" "0000437661" "0000933008" "0000437662" "0000933009" "0000437721" "0000933073" "0000437721" "0000933122" "0000437721" "0000933150" "0000437722" "0000933074" "0000437722" "0000933123" "0000437723" "0000933075" "0000437723" "0000933124" "0000437724" "0000933076" "0000437724" "0000933125" "0000437725" "0000933077" "0000437725" "0000933126" "0000437726" "0000933078" "0000437726" "0000933127" "0000437727" "0000933079" "0000437727" "0000933128" "0000437728" "0000933080" "0000437729" "0000933081" "0000437730" "0000933082" "0000437730" "0000933129" "0000437731" "0000933083" "0000437731" "0000933130" "0000437731" "0000933151" "0000437732" "0000933084" "0000437732" "0000933131" "0000437732" "0000933152" "0000437733" "0000933085" "0000437733" "0000933132" "0000437734" "0000933086" "0000437734" "0000933133" "0000445052" "0000951916" "0000446547" "0000954891" "0000454644" "0000989533"