### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ERCC6) # 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}}" "ERCC6" "excision repair cross-complementing rodent repair deficiency, complementation group 6" "10" "q11" "unknown" "NG_009442.1" "UD_132085360221" "" "http://www.LOVD.nl/ERCC6" "" "1" "3438" "2074" "609413" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ERCC6_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2015-11-25 07:04:13" "00000" "2025-07-08 13:22:38" ## 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}}" "00000177" "ERCC6" "excision repair cross-complementing rodent repair deficiency, complementation group 6" "001" "NM_000124.2" "" "NP_000115.1" "" "" "" "-154" "6852" "4482" "50747147" "50664491" "00002" "2012-05-11 13:12:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{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" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00941" "CSB" "Cockayne syndrome, type B (CSB)" "AR" "133540" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00942" "COFS1" "cerebrooculofacioskeletal syndrome, type 1 (COFS-1" "AR" "214150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00943" "-" "De Sanctis-Cacchione syndrome" "AR" "278800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01371" "HD" "Huntington disease (HD)" "AD" "143100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02306" "UVSS" "UV-sensitive syndrome (UVSS)" "AR" "600630" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03422" "ARMD5" "macular degeneration, age-related, type 5 (ARMD-5)" "" "613761" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05595" "CS" "Cockayne syndrome (CS)" "" "" "" "" "" "00006" "2019-04-20 16:48:42" "00006" "2021-12-10 21:51:32" "06075" "POF11" "ovarian failure, premature, type 11" "AD" "616946" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2022-02-16 19:58:03" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{geneid}}" "{{diseaseid}}" "ERCC6" "00139" "ERCC6" "00639" "ERCC6" "00941" "ERCC6" "00942" "ERCC6" "00943" "ERCC6" "02306" "ERCC6" "03422" "ERCC6" "05595" "ERCC6" "06075" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00000010" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000057" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00050608" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050609" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00081410" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081411" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081412" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081413" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00248181" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00290046" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290047" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290048" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290049" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304243" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362007" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat10AB" "00373510" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "" "" "China" "" "0" "" "" "" "RH16" "00374312" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4506" "00374313" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4707" "00426120" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10MS8500" "00448222" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat124" "00453310" "" "" "" "1" "" "00006" "{PMID:Cappi 2016:27023170}" "analysis 20 sporadic obsessive-compulsive disorder cases" "" "" "Brazil" "" "0" "" "" "" "OCD032201" "00459488" "" "" "" "4" "" "04787" "" "" "M" "yes" "Pakistan" "" "" "" "" "" "SYD05 IV:4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00050608" "00198" "00050609" "00198" "00081410" "01371" "00081411" "01371" "00081412" "01371" "00081413" "01371" "00248181" "00318" "00290046" "00198" "00290047" "00198" "00290048" "00198" "00290049" "00198" "00304243" "00198" "00362007" "04214" "00373510" "04214" "00374312" "00198" "00374313" "00198" "00426120" "00139" "00448222" "00198" "00453310" "00198" "00459488" "00941" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00318, 00639, 00941, 00942, 00943, 01371, 02306, 03422, 04214, 05595, 06075 ## Count = 15 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037220" "00198" "00050608" "00006" "Unknown" "" "global developmental delay, autism, intrauterine growth retardation, delayed speech and language development, joint contractures of the 5th finger, seizures, microcephaly, brachycephaly, generalized hypotonia, deeply set eye, radioulnar synostosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000037221" "00198" "00050609" "00006" "Unknown" "" "intrauterine growth retardation, global developmental delay, autism, absent speech, seizures, microcephaly, brachycephaly, generalized hypotonia, deeply set eye" "" "" "" "" "" "" "" "" "" "" "" "" "0000060973" "01371" "00081410" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060974" "01371" "00081411" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060975" "01371" "00081412" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060976" "01371" "00081413" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187190" "00318" "00248181" "01474" "Unknown" "" "33y ductal breast cancer, subtype luminal A" "33y" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000257400" "04214" "00362007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000268786" "04214" "00373510" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" "" "0000269522" "00198" "00374312" "00006" "Familial, autosomal recessive" "" "Neuroregression, nystagmus, brachydactyly and failure to thrive, suggestive of Cockayne syndrome" "" "" "" "" "" "" "" "" "" "" "Cockayne syndrome" "" "0000269523" "00198" "00374313" "00006" "Familial, autosomal recessive" "" "Abnormal gait, spasticity, cognitive deficit, ID, microcephaly and short stature" "" "" "" "" "" "" "" "" "" "" "spasticity, intellectual disability, microcephaly" "" "0000317270" "00139" "00426120" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "" "" "Cerebrooculofacioskeletal syndrome 1" "intellectual disability" "" "0000337432" "00198" "00448222" "00006" "Familial, autosomal recessive" "2y" "global developmental delay; acquired microcephaly; short stature; abnormal foot morphology" "" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000341973" "00198" "00453310" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "obsessive-compulsive disorder" "" "0000347564" "00941" "00459488" "04787" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CSB" "Cockayne syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000010" "00000010" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000057" "00000057" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050553" "00050608" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050554" "00050609" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081523" "00081410" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081524" "00081411" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081525" "00081412" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081526" "00081413" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000249286" "00248181" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000291214" "00290046" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291215" "00290047" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291216" "00290048" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291217" "00290049" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305372" "00304243" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363235" "00362007" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374745" "00373510" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000375506" "00374312" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375507" "00374313" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000427440" "00426120" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449797" "00448222" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454921" "00453310" "1" "00006" "00006" "2024-08-17 18:11:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461113" "00459488" "1" "04787" "04787" "2025-01-06 07:49:21" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000000010" "ACADM" "0000000010" "ATP7B" "0000000010" "BTD" "0000000010" "CLN3" "0000000010" "CPT1A" "0000000010" "DGUOK" "0000000010" "ERCC6" "0000000010" "ETFB" "0000000010" "NHLRC1" "0000000010" "PAH" "0000000057" "ALDOB" "0000000057" "ATM" "0000000057" "ATP7B" "0000000057" "DPYD" "0000000057" "ERCC6" "0000000057" "ETFB" "0000000057" "GAA" "0000000057" "IGHMBP2" "0000000057" "LAMA2" "0000000057" "NHLRC1" "0000000057" "NPHS1" "0000000057" "SERPINA1" "0000050553" "ERCC6" "0000050554" "ERCC6" "0000081523" "HTT" "0000081524" "HTT" "0000081525" "HTT" "0000081526" "HTT" "0000374745" "ABCA4" "0000375506" "ERCC6" "0000375507" "ERCC6" ## 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 = 214 "{{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}}" "0000000153" "0" "50" "10" "50690735" "50690735" "subst" "7.31309E-5" "00002" "ERCC6_000001" "g.50690735G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49482689G>A" "" "VUS" "" "0000000154" "0" "50" "10" "50678470" "50678471" "del" "0" "00002" "ERCC6_000002" "g.50678470_50678471del" "" "" "" " chr10:g.50348475_50348476del" "" "Germline" "" "" "" "" "" "g.49470424_49470425del" "" "VUS" "" "0000000155" "0" "50" "10" "50682080" "50682080" "subst" "0" "00002" "ERCC6_000003" "g.50682080G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49474034G>C" "" "VUS" "" "0000000156" "0" "50" "10" "50690735" "50690735" "subst" "0" "00002" "ERCC6_000004" "g.50690735G>T" "" "" "" "" "Not known correct genotype" "Germline" "" "" "" "" "" "g.49482689G>T" "" "VUS" "" "0000079533" "21" "90" "10" "50678615" "50678615" "subst" "0.000556883" "00006" "ERCC6_000005" "g.50678615T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.49470569T>C" "" "pathogenic" "" "0000079534" "21" "90" "10" "50678615" "50678615" "subst" "0.000556883" "00006" "ERCC6_000005" "g.50678615T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.49470569T>C" "" "pathogenic" "" "0000079685" "11" "90" "10" "50691439" "50691439" "subst" "8.12995E-6" "00006" "ERCC6_000006" "g.50691439G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.49483393G>A" "" "pathogenic" "" "0000079686" "11" "90" "10" "50691439" "50691439" "subst" "8.12995E-6" "00006" "ERCC6_000006" "g.50691439G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.49483393G>A" "" "pathogenic" "" "0000249421" "0" "30" "10" "50678356" "50678356" "subst" "0.000755588" "02325" "ERCC6_000025" "g.50678356A>C" "" "" "" "ERCC6(NM_000124.4):c.3650T>G (p.F1217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470310A>C" "" "likely benign" "" "0000254141" "0" "30" "10" "50678820" "50678820" "subst" "0.00108581" "01943" "ERCC6_000033" "g.50678820A>G" "" "" "" "ERCC6(NM_000124.2):c.3186T>C (p.S1062=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470774A>G" "" "likely benign" "" "0000254230" "0" "30" "10" "50678829" "50678829" "subst" "0.00256594" "01943" "ERCC6_000034" "g.50678829A>G" "" "" "" "ERCC6(NM_000124.2):c.3177T>C (p.S1059=), ERCC6(NM_001346440.1):c.3177T>C (p.S1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470783A>G" "" "likely benign" "" "0000254416" "0" "30" "10" "50678550" "50678550" "subst" "0.00107439" "01943" "ERCC6_000028" "g.50678550A>C" "" "" "" "ERCC6(NM_000124.2):c.3456T>G (p.G1152=), ERCC6(NM_001346440.1):c.3456T>G (p.G1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470504A>C" "" "likely benign" "" "0000254687" "0" "30" "10" "50714011" "50714011" "subst" "0.000122101" "01943" "ERCC6_000099" "g.50714011A>C" "" "" "" "ERCC6(NM_000124.2):c.1445T>G (p.L482R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49505965A>C" "" "likely benign" "" "0000254764" "0" "30" "10" "50667248" "50667248" "subst" "0.000171166" "01943" "ERCC6_000013" "g.50667248A>T" "" "" "" "ERCC6(NM_000124.2):c.4095T>A (p.N1365K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459202A>T" "" "likely benign" "" "0000255265" "0" "30" "10" "50679174" "50679174" "subst" "0.000269996" "01943" "ERCC6_000042" "g.50679174A>T" "" "" "" "ERCC6(NM_000124.2):c.2925-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49471128A>T" "" "likely benign" "" "0000255643" "0" "90" "10" "50682120" "50682120" "subst" "0" "01943" "ERCC6_000049" "g.50682120A>G" "" "" "" "ERCC6(NM_000124.2):c.2551T>C (p.W851R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49474074A>G" "" "pathogenic" "" "0000256271" "0" "50" "10" "50682275" "50682275" "subst" "0" "01943" "ERCC6_000051" "g.50682275A>C" "" "" "" "ERCC6(NM_000124.2):c.2396T>G (p.L799R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49474229A>C" "" "VUS" "" "0000256277" "0" "50" "10" "50681584" "50681584" "subst" "0" "01943" "ERCC6_000098" "g.50681584A>C" "" "" "" "ERCC6(NM_000124.2):c.2648T>G (p.L883R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49473538A>C" "" "VUS" "" "0000267876" "0" "30" "10" "50732139" "50732139" "subst" "0.00972583" "02325" "ERCC6_000073" "g.50732139C>T" "" "" "" "ERCC6(NM_000124.2):c.1337G>A (p.(Gly446Asp)), ERCC6(NM_000124.4):c.1337G>A (p.G446D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524093C>T" "" "likely benign" "" "0000267877" "0" "10" "10" "50740876" "50740876" "subst" "0.69953" "02325" "ERCC6_000089" "g.50740876G>C" "" "" "" "ERCC6(NM_000124.2):c.135C>G (p.L45=), ERCC6(NM_000124.4):c.135C>G (p.L45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532830G>C" "" "benign" "" "0000267878" "0" "10" "10" "50724016" "50724016" "subst" "0.998556" "02325" "ERCC6_000067" "g.50724016C>T" "" "" "" "ERCC6(NM_000124.4):c.1397+8063G>A, PGBD3(NM_170753.3):c.1145G>A (p.R382K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49515970C>T" "" "benign" "" "0000267879" "0" "10" "10" "50723684" "50723684" "subst" "0.913364" "02325" "ERCC6_000066" "g.50723684G>A" "" "" "" "ERCC6(NM_000124.4):c.1397+8395C>T, PGBD3(NM_170753.3):c.1477C>T (p.L493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49515638G>A" "" "benign" "" "0000267880" "0" "50" "10" "50708599" "50708599" "subst" "0.000199417" "02325" "ERCC6_000063" "g.50708599C>T" "" "" "" "ERCC6(NM_000124.4):c.1670G>A (p.R557H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49500553C>T" "" "VUS" "" "0000267881" "0" "10" "10" "50701156" "50701156" "subst" "0.894992" "02325" "ERCC6_000061" "g.50701156G>A" "" "" "" "ERCC6(NM_000124.2):c.1821+7C>T, ERCC6(NM_000124.4):c.1821+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49493110G>A" "" "benign" "" "0000267882" "0" "90" "10" "50691430" "50691430" "subst" "1.62602E-5" "02325" "ERCC6_000060" "g.50691430G>A" "" "" "" "ERCC6(NM_000124.4):c.1954C>T (p.R652*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49483384G>A" "" "pathogenic" "" "0000267883" "0" "10" "10" "50683438" "50683438" "subst" "0" "02325" "ERCC6_000053" "g.50683438T>C" "" "" "" "ERCC6(NM_000124.4):c.2382+823A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49475392T>C" "" "benign" "" "0000267884" "0" "50" "10" "50682281" "50682281" "subst" "0.000839501" "02325" "ERCC6_000052" "g.50682281G>C" "" "" "" "ERCC6(NM_000124.2):c.2390C>G (p.S797C), ERCC6(NM_000124.3):c.2390C>G (p.(Ser797Cys)), ERCC6(NM_000124.4):c.2390C>G (p.S797C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49474235G>C" "" "VUS" "" "0000267885" "0" "10" "10" "50678717" "50678717" "subst" "0.218543" "02325" "ERCC6_000030" "g.50678717T>C" "" "" "" "ERCC6(NM_000124.2):c.3289A>G (p.M1097V), ERCC6(NM_000124.4):c.3289A>G (p.M1097V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470671T>C" "" "benign" "" "0000267886" "0" "50" "10" "50678696" "50678696" "subst" "0" "02325" "ERCC6_000029" "g.50678696T>A" "" "" "" "ERCC6(NM_000124.4):c.3310A>T (p.N1104Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470650T>A" "" "VUS" "" "0000267887" "0" "10" "10" "50678369" "50678369" "subst" "0.219963" "02325" "ERCC6_000026" "g.50678369T>C" "" "" "" "ERCC6(NM_000124.2):c.3637A>G (p.R1213G), ERCC6(NM_000124.4):c.3637A>G (p.R1213G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470323T>C" "" "benign" "" "0000267888" "0" "50" "10" "50669419" "50669419" "subst" "6.09731E-5" "02325" "ERCC6_000016" "g.50669419G>C" "" "" "" "ERCC6(NM_000124.4):c.3962C>G (p.S1321C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49461373G>C" "" "VUS" "" "0000267889" "0" "10" "10" "50667105" "50667105" "subst" "0.218075" "02325" "ERCC6_000009" "g.50667105T>C" "" "" "" "ERCC6(NM_000124.2):c.4238A>G (p.Q1413R), ERCC6(NM_000124.4):c.4238A>G (p.Q1413R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459059T>C" "" "benign" "" "0000276310" "0" "30" "10" "50732432" "50732432" "subst" "0" "01943" "ERCC6_000082" "g.50732432C>T" "" "" "" "ERCC6(NM_000124.2):c.1044G>A (p.L348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524386C>T" "" "likely benign" "" "0000276311" "0" "30" "10" "50732330" "50732330" "subst" "0.00190358" "01943" "ERCC6_000079" "g.50732330C>T" "" "" "" "ERCC6(NM_000124.2):c.1146G>A (p.E382=), ERCC6(NM_001346440.1):c.1146G>A (p.E382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524284C>T" "" "likely benign" "" "0000276312" "0" "30" "10" "50732318" "50732318" "subst" "0.00114762" "01943" "ERCC6_000078" "g.50732318G>C" "" "" "" "ERCC6(NM_000124.2):c.1158C>G (p.D386E, p.(Asp386Glu)), ERCC6(NM_001346440.1):c.1158C>G (p.D386E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524272G>C" "" "likely benign" "" "0000276313" "0" "50" "10" "50732317" "50732317" "subst" "0.000164393" "01943" "ERCC6_000077" "g.50732317C>T" "" "" "" "ERCC6(NM_000124.2):c.1159G>A (p.E387K), ERCC6(NM_000124.4):c.1159G>A (p.E387K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524271C>T" "" "VUS" "" "0000276314" "0" "30" "10" "50732306" "50732306" "subst" "2.87564E-5" "01943" "ERCC6_000076" "g.50732306C>T" "" "" "" "ERCC6(NM_000124.2):c.1170G>A (p.G390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524260C>T" "" "likely benign" "" "0000276315" "0" "10" "10" "50732280" "50732280" "subst" "0.200665" "01943" "ERCC6_000075" "g.50732280C>T" "" "" "" "ERCC6(NM_000124.2):c.1196G>A (p.G399D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524234C>T" "" "benign" "" "0000276316" "0" "50" "10" "50732202" "50732202" "subst" "0.00174366" "01943" "ERCC6_000074" "g.50732202T>G" "" "" "" "ERCC6(NM_000124.2):c.1274A>C (p.D425A), ERCC6(NM_000124.4):c.1274A>C (p.D425A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524156T>G" "" "VUS" "" "0000276318" "0" "50" "10" "50732137" "50732137" "subst" "0.000115028" "01943" "ERCC6_000072" "g.50732137G>A" "" "" "" "ERCC6(NM_000124.2):c.1339C>T (p.R447W), ERCC6(NM_000124.4):c.1339C>T (p.R447W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524091G>A" "" "VUS" "" "0000276319" "0" "10" "10" "50740876" "50740876" "subst" "0.69953" "01943" "ERCC6_000089" "g.50740876G>C" "" "" "" "ERCC6(NM_000124.2):c.135C>G (p.L45=), ERCC6(NM_000124.4):c.135C>G (p.L45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532830G>C" "" "benign" "" "0000276320" "0" "50" "10" "50713999" "50713999" "subst" "0" "01943" "ERCC6_000065" "g.50713999G>C" "" "" "" "ERCC6(NM_000124.2):c.1457C>G (p.S486C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49505953G>C" "" "VUS" "" "0000276321" "0" "30" "10" "50740861" "50740861" "subst" "0.000840555" "01943" "ERCC6_000088" "g.50740861C>T" "" "" "" "ERCC6(NM_000124.2):c.150G>A (p.V50=), ERCC6(NM_000124.4):c.150G>A (p.(Val50=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532815C>T" "" "likely benign" "" "0000276322" "0" "30" "10" "50708619" "50708619" "subst" "8.13623E-6" "01943" "ERCC6_000064" "g.50708619G>A" "" "" "" "ERCC6(NM_000124.2):c.1650C>T (p.S550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49500573G>A" "" "likely benign" "" "0000276323" "0" "30" "10" "50724882" "50724882" "subst" "0.000109771" "01943" "ERCC6_000070" "g.50724882C>T" "" "" "" "ERCC6(NM_001277058.1):c.1683G>A (p.T561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49516836C>T" "" "likely benign" "" "0000276324" "0" "50" "10" "50701183" "50701183" "subst" "0.000235728" "01943" "ERCC6_000062" "g.50701183C>T" "" "" "" "ERCC6(NM_000124.2):c.1801G>A (p.G601S), ERCC6(NM_000124.4):c.1801G>A (p.(Gly601Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49493137C>T" "" "VUS" "" "0000276325" "0" "10" "10" "50701156" "50701156" "subst" "0.894992" "01943" "ERCC6_000061" "g.50701156G>A" "" "" "" "ERCC6(NM_000124.2):c.1821+7C>T, ERCC6(NM_000124.4):c.1821+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49493110G>A" "" "benign" "" "0000276326" "0" "10" "10" "50690820" "50690820" "subst" "0.00203577" "01943" "ERCC6_000058" "g.50690820C>T" "" "" "" "ERCC6(NM_000124.2):c.2082G>A (p.P694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49482774C>T" "" "benign" "" "0000276327" "0" "30" "10" "50724408" "50724408" "subst" "0.00677681" "01943" "ERCC6_000069" "g.50724408G>A" "" "" "" "ERCC6(NM_001277058.1):c.2157C>T (p.S719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49516362G>A" "" "likely benign" "" "0000276328" "0" "50" "10" "50686503" "50686503" "subst" "0" "01943" "ERCC6_000056" "g.50686503T>G" "" "" "" "ERCC6(NM_000124.2):c.2183A>C (p.Y728S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49478457T>G" "" "VUS" "" "0000276329" "0" "90" "10" "50686483" "50686483" "subst" "6.91175E-5" "01943" "ERCC6_000055" "g.50686483G>A" "" "" "" "ERCC6(NM_000124.2):c.2203C>T (p.R735*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49478437G>A" "" "pathogenic" "" "0000276330" "0" "90" "10" "50684358" "50684358" "subst" "1.22261E-5" "01943" "ERCC6_000054" "g.50684358T>C" "" "" "" "ERCC6(NM_000124.2):c.2287-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49476312T>C" "" "pathogenic" "" "0000276331" "0" "50" "10" "50682281" "50682281" "subst" "0.000839501" "01943" "ERCC6_000052" "g.50682281G>C" "" "" "" "ERCC6(NM_000124.2):c.2390C>G (p.S797C), ERCC6(NM_000124.3):c.2390C>G (p.(Ser797Cys)), ERCC6(NM_000124.4):c.2390C>G (p.S797C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49474235G>C" "" "VUS" "" "0000276332" "0" "30" "10" "50682265" "50682265" "subst" "0" "01943" "ERCC6_000050" "g.50682265T>C" "" "" "" "ERCC6(NM_000124.2):c.2406A>G (p.L802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49474219T>C" "" "likely benign" "" "0000276333" "0" "50" "10" "50681043" "50681043" "subst" "0.000552769" "01943" "ERCC6_000047" "g.50681043G>A" "" "" "" "ERCC6(NM_000124.2):c.2741C>T (p.T914M), ERCC6(NM_000124.4):c.2741C>T (p.(Thr914Met), p.T914M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49472997G>A" "" "VUS" "" "0000276334" "0" "10" "10" "50681033" "50681033" "subst" "0.339965" "01943" "ERCC6_000046" "g.50681033G>A" "" "" "" "ERCC6(NM_000124.2):c.2751C>T (p.G917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49472987G>A" "" "benign" "" "0000276335" "0" "90" "10" "50680507" "50680507" "subst" "1.22156E-5" "01943" "ERCC6_000043" "g.50680507G>A" "" "" "" "ERCC6(NM_000124.2):c.2839C>T (p.R947*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49472461G>A" "" "pathogenic" "" "0000276336" "0" "50" "10" "50679157" "50679157" "subst" "0" "01943" "ERCC6_000041" "g.50679157G>C" "" "" "" "ERCC6(NM_000124.2):c.2934C>G (p.F978L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49471111G>C" "" "VUS" "" "0000276337" "0" "50" "10" "50679111" "50679111" "subst" "1.62702E-5" "01943" "ERCC6_000040" "g.50679111G>A" "" "" "" "ERCC6(NM_000124.2):c.2980C>T (p.R994W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49471065G>A" "" "VUS" "" "0000276338" "0" "50" "10" "50679101" "50679101" "subst" "0" "01943" "ERCC6_000039" "g.50679101T>A" "" "" "" "ERCC6(NM_000124.2):c.2990A>T (p.K997I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49471055T>A" "" "VUS" "" "0000276339" "0" "10" "10" "50679081" "50679081" "subst" "0.0121287" "01943" "ERCC6_000038" "g.50679081G>A" "" "" "" "ERCC6(NM_000124.2):c.3010C>T (p.L1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49471035G>A" "" "benign" "" "0000276340" "0" "50" "10" "50679030" "50679030" "subst" "0.00106131" "01943" "ERCC6_000037" "g.50679030T>C" "" "" "" "ERCC6(NM_000124.2):c.3061A>G (p.I1021V), ERCC6(NM_000124.4):c.3061A>G (p.I1021V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470984T>C" "" "VUS" "" "0000276341" "0" "30" "10" "50678877" "50678877" "subst" "0" "01943" "ERCC6_000035" "g.50678877G>T" "" "" "" "ERCC6(NM_000124.2):c.3129C>A (p.A1043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470831G>T" "" "likely benign" "" "0000276342" "0" "30" "10" "50678819" "50678819" "subst" "0.000276546" "01943" "ERCC6_000032" "g.50678819C>T" "" "" "" "ERCC6(NM_000124.2):c.3187G>A (p.V1063I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470773C>T" "" "likely benign" "" "0000276343" "0" "30" "10" "50678722" "50678722" "subst" "0.00286816" "01943" "ERCC6_000031" "g.50678722G>C" "" "" "" "ERCC6(NM_000124.2):c.3284C>G (p.P1095R), ERCC6(NM_001346440.1):c.3284C>G (p.P1095R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470676G>C" "" "likely benign" "" "0000276344" "0" "10" "10" "50678717" "50678717" "subst" "0.218543" "01943" "ERCC6_000030" "g.50678717T>C" "" "" "" "ERCC6(NM_000124.2):c.3289A>G (p.M1097V), ERCC6(NM_000124.4):c.3289A>G (p.M1097V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470671T>C" "" "benign" "" "0000276345" "0" "30" "10" "50678615" "50678615" "subst" "0.000556883" "01943" "ERCC6_000005" "g.50678615T>C" "" "" "" "ERCC6(NM_001346440.1):c.3391A>G (p.N1131D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470569T>C" "" "likely benign" "" "0000276346" "0" "30" "10" "50678425" "50678425" "subst" "0.000276245" "01943" "ERCC6_000027" "g.50678425T>C" "" "" "" "ERCC6(NM_000124.2):c.3581A>G (p.E1194G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470379T>C" "" "likely benign" "" "0000276347" "0" "10" "10" "50678369" "50678369" "subst" "0.219963" "01943" "ERCC6_000026" "g.50678369T>C" "" "" "" "ERCC6(NM_000124.2):c.3637A>G (p.R1213G), ERCC6(NM_000124.4):c.3637A>G (p.R1213G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470323T>C" "" "benign" "" "0000276348" "0" "10" "10" "50678347" "50678347" "subst" "0.00203554" "01943" "ERCC6_000024" "g.50678347G>A" "" "" "" "ERCC6(NM_000124.2):c.3659C>T (p.T1220I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470301G>A" "" "benign" "" "0000276349" "0" "10" "10" "50678317" "50678317" "subst" "0.0709491" "01943" "ERCC6_000023" "g.50678317C>G" "" "" "" "ERCC6(NM_000124.2):c.3689G>C (p.R1230P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470271C>G" "" "benign" "" "0000276350" "0" "30" "10" "50678291" "50678291" "subst" "0" "01943" "ERCC6_000022" "g.50678291T>G" "" "" "" "ERCC6(NM_000124.2):c.3715A>C (p.K1239Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470245T>G" "" "likely benign" "" "0000276351" "0" "10" "10" "50678232" "50678232" "subst" "0.00208117" "01943" "ERCC6_000020" "g.50678232T>C" "" "" "" "ERCC6(NM_000124.2):c.3774A>G (p.K1258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470186T>C" "" "benign" "" "0000276352" "0" "10" "10" "50678212" "50678212" "subst" "0.0110318" "01943" "ERCC6_000019" "g.50678212G>A" "" "" "" "ERCC6(NM_000124.2):c.3778+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470166G>A" "" "benign" "" "0000276353" "0" "30" "10" "50669577" "50669577" "subst" "0.000481138" "01943" "ERCC6_000018" "g.50669577G>A" "" "" "" "ERCC6(NM_000124.2):c.3804C>T (p.H1268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49461531G>A" "" "likely benign" "" "0000276354" "0" "30" "10" "50740626" "50740626" "subst" "0.00118589" "01943" "ERCC6_000087" "g.50740626C>T" "" "" "" "ERCC6(NM_000124.2):c.385G>A (p.V129M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532580C>T" "" "likely benign" "" "0000276355" "0" "30" "10" "50669459" "50669459" "subst" "0.00179245" "01943" "ERCC6_000017" "g.50669459C>G" "" "" "" "ERCC6(NM_000124.2):c.3922G>C (p.V1308L, p.(Val1308Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49461413C>G" "" "likely benign" "" "0000276356" "0" "50" "10" "50668460" "50668460" "subst" "0" "01943" "ERCC6_000015" "g.50668460C>T" "" "" "" "ERCC6(NM_000124.2):c.4021G>A (p.V1341M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49460414C>T" "" "VUS" "" "0000276357" "0" "50" "10" "50667120" "50667120" "subst" "0.00152571" "01943" "ERCC6_000011" "g.50667120T>G" "" "" "" "ERCC6(NM_000124.4):c.4223A>C (p.E1408A), ERCC6(NM_001346440.1):c.4223A>C (p.E1408A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459074T>G" "" "VUS" "" "0000276358" "0" "30" "10" "50667115" "50667115" "subst" "5.69606E-5" "01943" "ERCC6_000010" "g.50667115C>T" "" "" "" "ERCC6(NM_000124.2):c.4228G>A (p.G1410R), ERCC6(NM_000124.4):c.4228G>A (p.G1410R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459069C>T" "" "likely benign" "" "0000276359" "0" "10" "10" "50667105" "50667105" "subst" "0.218075" "01943" "ERCC6_000009" "g.50667105T>C" "" "" "" "ERCC6(NM_000124.2):c.4238A>G (p.Q1413R), ERCC6(NM_000124.4):c.4238A>G (p.Q1413R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459059T>C" "" "benign" "" "0000276360" "0" "50" "10" "50667079" "50667079" "subst" "0" "01943" "ERCC6_000008" "g.50667079T>C" "" "" "" "ERCC6(NM_000124.2):c.4264A>G (p.T1422A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459033T>C" "" "VUS" "" "0000276361" "0" "10" "10" "50667021" "50667021" "subst" "0.0053169" "01943" "ERCC6_000007" "g.50667021G>A" "" "" "" "ERCC6(NM_000124.2):c.4322C>T (p.T1441I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49458975G>A" "" "benign" "" "0000276362" "0" "30" "10" "50738781" "50738781" "subst" "0.0286628" "01943" "ERCC6_000086" "g.50738781T>C" "" "" "" "ERCC6(NM_000124.2):c.528A>G (p.R176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49530735T>C" "" "likely benign" "" "0000276363" "0" "50" "10" "50736550" "50736550" "subst" "0.000101527" "01943" "ERCC6_000085" "g.50736550T>C" "" "" "" "ERCC6(NM_000124.2):c.565A>G (p.T189A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49528504T>C" "" "VUS" "" "0000276364" "0" "50" "10" "50732755" "50732755" "subst" "3.30188E-5" "01943" "ERCC6_000084" "g.50732755G>A" "" "" "" "ERCC6(NM_000124.2):c.721C>T (p.R241C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524709G>A" "" "VUS" "" "0000276365" "0" "90" "10" "50732668" "50732668" "del" "0" "01943" "ERCC6_000083" "g.50732668del" "" "" "" "ERCC6(NM_000124.2):c.809delG (p.G270Afs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524622del" "" "pathogenic" "" "0000321514" "0" "50" "10" "50667229" "50667229" "subst" "0.00101314" "01804" "ERCC6_000012" "g.50667229C>T" "" "" "" "ERCC6(NM_000124.2):c.4114G>A (p.(Gly1372Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459183C>T" "" "VUS" "" "0000321515" "0" "50" "10" "50667280" "50667280" "subst" "0" "01804" "ERCC6_000014" "g.50667280C>A" "" "" "" "ERCC6(NM_000124.2):c.4063G>T (p.(Asp1355Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459234C>A" "" "VUS" "" "0000321516" "0" "50" "10" "50669459" "50669459" "subst" "0.00179245" "01804" "ERCC6_000017" "g.50669459C>G" "" "" "" "ERCC6(NM_000124.2):c.3922G>C (p.V1308L, p.(Val1308Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49461413C>G" "" "VUS" "" "0000321517" "0" "50" "10" "50678287" "50678287" "subst" "0.000243776" "01804" "ERCC6_000021" "g.50678287C>A" "" "" "" "ERCC6(NM_000124.2):c.3719G>T (p.(Ser1240Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470241C>A" "" "VUS" "" "0000321519" "0" "50" "10" "50678884" "50678884" "subst" "0.00173202" "01804" "ERCC6_000036" "g.50678884T>G" "" "" "" "ERCC6(NM_000124.2):c.3122A>C (p.Q1041P, p.(Gln1041Pro)), ERCC6(NM_001346440.1):c.3122A>C (p.Q1041P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470838T>G" "" "VUS" "" "0000321520" "0" "50" "10" "50681013" "50681013" "subst" "1.21933E-5" "01804" "ERCC6_000044" "g.50681013G>A" "" "" "" "ERCC6(NM_000124.2):c.2771C>T (p.(Thr924Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49472967G>A" "" "VUS" "" "0000321521" "0" "50" "10" "50681018" "50681018" "subst" "4.06408E-5" "01804" "ERCC6_000045" "g.50681018G>T" "" "" "" "ERCC6(NM_000124.2):c.2766C>A (p.(Asn922Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49472972G>T" "" "VUS" "" "0000321522" "0" "50" "10" "50681585" "50681585" "subst" "1.21886E-5" "01804" "ERCC6_000048" "g.50681585G>A" "" "" "" "ERCC6(NM_000124.2):c.2647C>T (p.(Leu883Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49473539G>A" "" "VUS" "" "0000321523" "0" "50" "10" "50690906" "50690906" "subst" "0.00174714" "01804" "ERCC6_000059" "g.50690906G>A" "" "" "" "ERCC6(NM_000124.2):c.1996C>T (p.R666C, p.(Arg666Cys)), ERCC6(NM_000124.4):c.1996C>T (p.R666C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49482860G>A" "" "VUS" "" "0000321524" "0" "50" "10" "50724316" "50724316" "subst" "0.00114421" "01804" "ERCC6_000068" "g.50724316C>T" "" "" "" "ERCC6(NM_000124.2):c.1397+7763G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49516270C>T" "" "VUS" "" "0000321527" "0" "30" "10" "50732318" "50732318" "subst" "0.00114762" "01804" "ERCC6_000078" "g.50732318G>C" "" "" "" "ERCC6(NM_000124.2):c.1158C>G (p.D386E, p.(Asp386Glu)), ERCC6(NM_001346440.1):c.1158C>G (p.D386E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524272G>C" "" "likely benign" "" "0000338340" "0" "10" "10" "50747080" "50747080" "subst" "0" "02327" "ERCC6_000097" "g.50747080G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49539034G>T" "" "benign" "" "0000340212" "0" "10" "10" "50681033" "50681033" "subst" "0.339965" "02327" "ERCC6_000046" "g.50681033G>A" "" "" "" "ERCC6(NM_000124.2):c.2751C>T (p.G917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49472987G>A" "" "benign" "" "0000340214" "0" "10" "10" "50740600" "50740600" "subst" "0.126645" "02327" "ERCC6_000095" "g.50740600C>T" "" "" "" "ERCC6(NM_000124.2):c.411G>A (p.L137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532554C>T" "" "benign" "" "0000340215" "0" "10" "10" "50740876" "50740876" "subst" "0.69953" "02327" "ERCC6_000089" "g.50740876G>C" "" "" "" "ERCC6(NM_000124.2):c.135C>G (p.L45=), ERCC6(NM_000124.4):c.135C>G (p.L45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532830G>C" "" "benign" "" "0000340674" "0" "10" "10" "50738781" "50738781" "subst" "0.0286628" "02327" "ERCC6_000086" "g.50738781T>C" "" "" "" "ERCC6(NM_000124.2):c.528A>G (p.R176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49530735T>C" "" "benign" "" "0000341793" "0" "10" "10" "50678369" "50678369" "subst" "0.219963" "02327" "ERCC6_000026" "g.50678369T>C" "" "" "" "ERCC6(NM_000124.2):c.3637A>G (p.R1213G), ERCC6(NM_000124.4):c.3637A>G (p.R1213G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470323T>C" "" "benign" "" "0000341831" "0" "90" "10" "50669519" "50669519" "subst" "0.000134304" "02327" "ERCC6_000091" "g.50669519G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49461473G>A" "" "pathogenic" "" "0000341909" "0" "10" "10" "50667105" "50667105" "subst" "0.218075" "02327" "ERCC6_000009" "g.50667105T>C" "" "" "" "ERCC6(NM_000124.2):c.4238A>G (p.Q1413R), ERCC6(NM_000124.4):c.4238A>G (p.Q1413R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49459059T>C" "" "benign" "" "0000343102" "0" "50" "10" "50708600" "50708600" "subst" "0" "02327" "ERCC6_000094" "g.50708600G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49500554G>C" "" "VUS" "" "0000343319" "0" "90" "10" "50686483" "50686483" "subst" "6.91175E-5" "02327" "ERCC6_000055" "g.50686483G>A" "" "" "" "ERCC6(NM_000124.2):c.2203C>T (p.R735*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49478437G>A" "" "pathogenic" "" "0000343504" "0" "90" "10" "50680507" "50680507" "subst" "1.22156E-5" "02327" "ERCC6_000043" "g.50680507G>A" "" "" "" "ERCC6(NM_000124.2):c.2839C>T (p.R947*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49472461G>A" "" "pathogenic" "" "0000343531" "0" "50" "10" "50680422" "50680422" "subst" "0.0012085" "02327" "ERCC6_000092" "g.50680422C>T" "" "" "" "ERCC6(NM_000124.4):c.2924G>A (p.R975Q), ERCC6(NM_001346440.1):c.2924G>A (p.R975Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49472376C>T" "" "VUS" "" "0000346054" "0" "10" "10" "50732280" "50732280" "subst" "0.200665" "02327" "ERCC6_000075" "g.50732280C>T" "" "" "" "ERCC6(NM_000124.2):c.1196G>A (p.G399D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49524234C>T" "" "benign" "" "0000347727" "0" "10" "10" "50678717" "50678717" "subst" "0.218543" "02327" "ERCC6_000030" "g.50678717T>C" "" "" "" "ERCC6(NM_000124.2):c.3289A>G (p.M1097V), ERCC6(NM_000124.4):c.3289A>G (p.M1097V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49470671T>C" "" "benign" "" "0000349659" "0" "10" "10" "50680959" "50680959" "subst" "0.00387796" "02327" "ERCC6_000093" "g.50680959G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49472913G>A" "" "benign" "" "0000350271" "0" "10" "10" "50740626" "50740626" "subst" "0.00118589" "02327" "ERCC6_000087" "g.50740626C>T" "" "" "" "ERCC6(NM_000124.2):c.385G>A (p.V129M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532580C>T" "" "benign" "" "0000351267" "0" "10" "10" "50701156" "50701156" "subst" "0.894992" "02327" "ERCC6_000061" "g.50701156G>A" "" "" "" "ERCC6(NM_000124.2):c.1821+7C>T, ERCC6(NM_000124.4):c.1821+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49493110G>A" "" "benign" "" "0000351268" "0" "10" "10" "50747071" "50747071" "subst" "0" "02327" "ERCC6_000096" "g.50747071C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49539025C>A" "" "benign" "" "0000539963" "0" "50" "10" "50667034" "50667034" "subst" "7.31749E-5" "01804" "ERCC6_000100" "g.50667034A>T" "" "" "" "ERCC6(NM_000124.3):c.4309T>A (p.(Phe1437Ile)), ERCC6(NM_000124.4):c.4309T>A (p.F1437I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49458988A>T" "" "VUS" "" "0000539964" "0" "50" "10" "50667120" "50667120" "subst" "0.00152571" "02325" "ERCC6_000011" "g.50667120T>G" "" "" "" "ERCC6(NM_000124.4):c.4223A>C (p.E1408A), ERCC6(NM_001346440.1):c.4223A>C (p.E1408A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49459074T>G" "" "VUS" "" "0000539966" "0" "50" "10" "50678762" "50678762" "subst" "4.06815E-5" "02325" "ERCC6_000102" "g.50678762C>A" "" "" "" "ERCC6(NM_000124.4):c.3244G>T (p.A1082S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49470716C>A" "" "VUS" "" "0000539967" "0" "30" "10" "50678777" "50678777" "subst" "0" "01943" "ERCC6_000103" "g.50678777C>G" "" "" "" "ERCC6(NM_000124.2):c.3229G>C (p.G1077R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49470731C>G" "" "likely benign" "" "0000539968" "0" "30" "10" "50679079" "50679079" "subst" "4.06554E-5" "01943" "ERCC6_000104" "g.50679079T>C" "" "" "" "ERCC6(NM_000124.2):c.3012A>G (p.L1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49471033T>C" "" "likely benign" "" "0000539969" "0" "90" "10" "50682102" "50682102" "subst" "2.4399E-5" "01943" "ERCC6_000105" "g.50682102G>A" "" "" "" "ERCC6(NM_000124.2):c.2569C>T (p.R857*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49474056G>A" "" "pathogenic" "" "0000539970" "0" "50" "10" "50682281" "50682281" "subst" "0.000839501" "01804" "ERCC6_000052" "g.50682281G>C" "" "" "" "ERCC6(NM_000124.2):c.2390C>G (p.S797C), ERCC6(NM_000124.3):c.2390C>G (p.(Ser797Cys)), ERCC6(NM_000124.4):c.2390C>G (p.S797C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49474235G>C" "" "VUS" "" "0000539971" "0" "30" "10" "50682281" "50682281" "subst" "0.000839501" "02327" "ERCC6_000052" "g.50682281G>C" "" "" "" "ERCC6(NM_000124.2):c.2390C>G (p.S797C), ERCC6(NM_000124.3):c.2390C>G (p.(Ser797Cys)), ERCC6(NM_000124.4):c.2390C>G (p.S797C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49474235G>C" "" "likely benign" "" "0000539972" "0" "50" "10" "50691438" "50691438" "subst" "4.06471E-6" "02325" "ERCC6_000106" "g.50691438T>C" "" "" "" "ERCC6(NM_001346440.2):c.1946A>G (p.H649R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49483392T>C" "" "VUS" "" "0000539973" "0" "50" "10" "50701212" "50701212" "subst" "0.000142222" "01943" "ERCC6_000107" "g.50701212G>A" "" "" "" "ERCC6(NM_000124.2):c.1772C>T (p.P591L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49493166G>A" "" "VUS" "" "0000539974" "0" "30" "10" "50714020" "50714020" "subst" "0.000203502" "01943" "ERCC6_000108" "g.50714020C>T" "" "" "" "ERCC6(NM_000124.2):c.1436G>A (p.R479H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49505974C>T" "" "likely benign" "" "0000539975" "0" "30" "10" "50732139" "50732139" "subst" "0.00972583" "01804" "ERCC6_000073" "g.50732139C>T" "" "" "" "ERCC6(NM_000124.2):c.1337G>A (p.(Gly446Asp)), ERCC6(NM_000124.4):c.1337G>A (p.G446D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49524093C>T" "" "likely benign" "" "0000539976" "0" "30" "10" "50732235" "50732235" "subst" "0" "01943" "ERCC6_000109" "g.50732235T>G" "" "" "" "ERCC6(NM_000124.2):c.1241A>C (p.Q414P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49524189T>G" "" "likely benign" "" "0000539979" "0" "50" "10" "50736469" "50736469" "subst" "0" "01943" "ERCC6_000111" "g.50736469C>T" "" "" "" "ERCC6(NM_000124.2):c.646G>A (p.D216N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49528423C>T" "" "VUS" "" "0000539980" "0" "10" "10" "50740600" "50740600" "subst" "0.126645" "01943" "ERCC6_000095" "g.50740600C>T" "" "" "" "ERCC6(NM_000124.2):c.411G>A (p.L137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49532554C>T" "" "benign" "" "0000578034" "0" "50" "10" "50678313" "50678313" "subst" "0" "01474" "ERCC6_000101" "g.50678313G>C" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "" "0" "" "" "g.49470267G>C" "" "VUS" "" "0000612479" "0" "30" "10" "50678884" "50678884" "subst" "0.00173202" "01943" "ERCC6_000036" "g.50678884T>G" "" "" "" "ERCC6(NM_000124.2):c.3122A>C (p.Q1041P, p.(Gln1041Pro)), ERCC6(NM_001346440.1):c.3122A>C (p.Q1041P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49470838T>G" "" "likely benign" "" "0000612480" "0" "50" "10" "50690806" "50690806" "subst" "0.000377883" "01943" "ERCC6_000112" "g.50690806G>A" "" "" "" "ERCC6(NM_000124.2):c.2096C>T (p.T699M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49482760G>A" "" "VUS" "" "0000612481" "0" "50" "10" "50690906" "50690906" "subst" "0.00174714" "01943" "ERCC6_000059" "g.50690906G>A" "" "" "" "ERCC6(NM_000124.2):c.1996C>T (p.R666C, p.(Arg666Cys)), ERCC6(NM_000124.4):c.1996C>T (p.R666C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49482860G>A" "" "VUS" "" "0000612482" "0" "50" "10" "50724329" "50724329" "subst" "0" "01943" "ERCC6_000114" "g.50724329C>A" "" "" "" "ERCC6(NM_001277058.1):c.2236G>T (p.G746C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49516283C>A" "" "VUS" "" "0000612483" "0" "70" "10" "50736472" "50736472" "subst" "0" "01943" "ERCC6_000115" "g.50736472C>A" "" "" "" "ERCC6(NM_000124.2):c.643G>T (p.E215*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49528426C>A" "" "likely pathogenic" "" "0000622388" "0" "30" "10" "50714021" "50714021" "subst" "0.000191335" "01943" "ERCC6_000113" "g.50714021G>A" "" "" "" "ERCC6(NM_000124.2):c.1435C>T (p.R479C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49505975G>A" "" "likely benign" "" "0000647903" "1" "30" "10" "50680471" "50680471" "subst" "0.00204983" "03575" "ERCC6_000116" "g.50680471C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs190863815}" "Germline" "" "rs190863815" "0" "" "" "g.49472425C>A" "" "likely benign" "" "0000647904" "1" "30" "10" "50681043" "50681043" "subst" "0.000552769" "03575" "ERCC6_000047" "g.50681043G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs142580756}" "Germline" "" "rs142580756" "0" "" "" "g.49472997G>A" "" "likely benign" "" "0000647905" "1" "90" "10" "50690894" "50690894" "subst" "8.12565E-6" "03575" "ERCC6_000117" "g.50690894G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs202080674}" "Germline" "" "rs202080674" "0" "" "" "g.49482848G>A" "" "pathogenic" "" "0000647906" "1" "30" "10" "50732139" "50732139" "subst" "0.00972583" "03575" "ERCC6_000073" "g.50732139C>T" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous; {DB:CLININrs4253047}" "Germline" "" "rs4253047" "0" "" "" "g.49524093C>T" "" "likely benign" "" "0000656490" "0" "30" "10" "50678524" "50678524" "subst" "0.000447919" "01943" "ERCC6_000118" "g.50678524C>G" "" "" "" "ERCC6(NM_001346440.1):c.3482G>C (p.S1161T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49470478C>G" "" "likely benign" "" "0000656491" "0" "30" "10" "50678525" "50678525" "subst" "0.000447773" "01943" "ERCC6_000119" "g.50678525T>G" "" "" "" "ERCC6(NM_001346440.1):c.3481A>C (p.S1161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49470479T>G" "" "likely benign" "" "0000656492" "0" "30" "10" "50678884" "50678884" "subst" "0.00173202" "02326" "ERCC6_000036" "g.50678884T>G" "" "" "" "ERCC6(NM_000124.2):c.3122A>C (p.Q1041P, p.(Gln1041Pro)), ERCC6(NM_001346440.1):c.3122A>C (p.Q1041P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49470838T>G" "" "likely benign" "" "0000669060" "3" "30" "10" "50732139" "50732139" "subst" "0.00972583" "03575" "ERCC6_000073" "g.50732139C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs4253047}" "Germline" "" "rs4253047" "0" "" "" "g.49524093C>T" "" "likely benign" "" "0000690721" "0" "30" "10" "50724013" "50724013" "subst" "0.000431364" "01943" "ERCC6_000120" "g.50724013A>G" "" "" "" "ERCC6(NM_001277058.1):c.2552T>C (p.V851A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722827" "0" "50" "10" "50679030" "50679030" "subst" "0.00106131" "02325" "ERCC6_000037" "g.50679030T>C" "" "" "" "ERCC6(NM_000124.2):c.3061A>G (p.I1021V), ERCC6(NM_000124.4):c.3061A>G (p.I1021V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722828" "0" "50" "10" "50680422" "50680422" "subst" "0.0012085" "02325" "ERCC6_000092" "g.50680422C>T" "" "" "" "ERCC6(NM_000124.4):c.2924G>A (p.R975Q), ERCC6(NM_001346440.1):c.2924G>A (p.R975Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722829" "0" "30" "10" "50691385" "50691385" "subst" "0.000158548" "01943" "ERCC6_000121" "g.50691385G>A" "" "" "" "ERCC6(NM_001346440.1):c.1992+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722830" "0" "50" "10" "50724422" "50724422" "subst" "2.85595E-5" "01943" "ERCC6_000122" "g.50724422G>A" "" "" "" "ERCC6(NM_001277058.1):c.2143C>T (p.R715*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722831" "0" "90" "10" "50738783" "50738783" "subst" "2.03191E-5" "01943" "ERCC6_000123" "g.50738783G>A" "" "" "" "ERCC6(NM_001346440.1):c.526C>T (p.R176*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763778" "0" "50" "10" "50680422" "50680422" "subst" "0.0012085" "00000" "ERCC6_000092" "g.50680422C>T" "" "{PMID:Duvvari 2016:27007659}" "" "2924C>T" "" "Germline" "" "rs145720191" "0" "" "" "g.49472376C>T" "" "VUS" "" "0000785577" "0" "50" "10" "50678783" "50678783" "subst" "3.25441E-5" "00000" "ERCC6_000124" "g.50678783C>T" "" "{PMID:Liu 2015:25611614}" "" "" "variant found in controls" "Germline" "no" "" "0" "" "" "g.49470737C>T" "" "VUS" "" "0000786857" "3" "90" "10" "50732464" "50732464" "del" "0" "00006" "ERCC6_000127" "g.50732464del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.49524418del" "" "pathogenic" "" "0000786858" "1" "90" "10" "50708733" "50708733" "dup" "0" "00006" "ERCC6_000126" "g.50708733dup" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.49500687dup" "" "pathogenic" "" "0000787473" "2" "90" "10" "50667281" "50667281" "subst" "2.04831E-5" "00000" "ERCC6_000125" "g.50667281C>G" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.49459235C>G" "" "pathogenic" "" "0000804436" "0" "50" "10" "50690906" "50690906" "subst" "0.00174714" "02325" "ERCC6_000059" "g.50690906G>A" "" "" "" "ERCC6(NM_000124.2):c.1996C>T (p.R666C, p.(Arg666Cys)), ERCC6(NM_000124.4):c.1996C>T (p.R666C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804437" "0" "30" "10" "50691385" "50691385" "subst" "0.000158548" "02326" "ERCC6_000121" "g.50691385G>A" "" "" "" "ERCC6(NM_001346440.1):c.1992+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804438" "0" "90" "10" "50713929" "50713929" "subst" "1.22227E-5" "01943" "ERCC6_000128" "g.50713929C>A" "" "" "" "ERCC6(NM_001346440.1):c.1526+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804439" "0" "50" "10" "50724175" "50724175" "subst" "1.63144E-5" "01943" "ERCC6_000129" "g.50724175G>A" "" "" "" "ERCC6(NM_001277058.1):c.2390C>T (p.A797V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804440" "0" "30" "10" "50724720" "50724720" "subst" "3.25135E-5" "01943" "ERCC6_000130" "g.50724720T>C" "" "" "" "ERCC6(NM_001277058.1):c.1845A>G (p.E615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804441" "0" "50" "10" "50732098" "50732098" "subst" "1.64299E-5" "01943" "ERCC6_000131" "g.50732098A>C" "" "" "" "ERCC6(NM_001346440.1):c.1378T>G (p.Y460D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804442" "0" "30" "10" "50740627" "50740627" "subst" "7.31036E-5" "02326" "ERCC6_000132" "g.50740627G>A" "" "" "" "ERCC6(NM_001346440.1):c.384C>T (p.D128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852494" "0" "30" "10" "50678550" "50678550" "subst" "0.00107439" "02326" "ERCC6_000028" "g.50678550A>C" "" "" "" "ERCC6(NM_000124.2):c.3456T>G (p.G1152=), ERCC6(NM_001346440.1):c.3456T>G (p.G1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861914" "0" "30" "10" "50667120" "50667120" "subst" "0.00152571" "02326" "ERCC6_000011" "g.50667120T>G" "" "" "" "ERCC6(NM_000124.4):c.4223A>C (p.E1408A), ERCC6(NM_001346440.1):c.4223A>C (p.E1408A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861915" "0" "50" "10" "50680422" "50680422" "subst" "0.0012085" "01943" "ERCC6_000092" "g.50680422C>T" "" "" "" "ERCC6(NM_000124.4):c.2924G>A (p.R975Q), ERCC6(NM_001346440.1):c.2924G>A (p.R975Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861916" "0" "50" "10" "50732097" "50732097" "subst" "1.64303E-5" "01943" "ERCC6_000133" "g.50732097T>G" "" "" "" "ERCC6(NM_001346440.1):c.1379A>C (p.Y460S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861917" "0" "30" "10" "50732490" "50732490" "subst" "8.12559E-6" "01943" "ERCC6_000134" "g.50732490T>C" "" "" "" "ERCC6(NM_001346440.1):c.986A>G (p.K329R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861918" "0" "50" "10" "50740864" "50740864" "subst" "8.12143E-5" "01804" "ERCC6_000135" "g.50740864A>G" "" "" "" "ERCC6(NM_000124.2):c.147T>C (p.(Ser49=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889143" "0" "50" "10" "50667115" "50667115" "subst" "5.69606E-5" "02325" "ERCC6_000010" "g.50667115C>T" "" "" "" "ERCC6(NM_000124.2):c.4228G>A (p.G1410R), ERCC6(NM_000124.4):c.4228G>A (p.G1410R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889144" "0" "50" "10" "50667278" "50667278" "subst" "0.000659279" "01943" "ERCC6_000136" "g.50667278A>C" "" "" "" "ERCC6(NM_001346440.1):c.4065T>G (p.D1355E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889145" "0" "50" "10" "50681049" "50681049" "subst" "0" "02327" "ERCC6_000137" "g.50681049A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889146" "0" "50" "10" "50724629" "50724629" "subst" "0" "02325" "ERCC6_000138" "g.50724629A>G" "" "" "" "PGBD3(NM_170753.3):c.532T>C (p.S178P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889147" "0" "50" "10" "50725011" "50725014" "del" "0" "02325" "ERCC6_000139" "g.50725011_50725014del" "" "" "" "PGBD3(NM_170753.3):c.152_155delATAA (p.N51Ifs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889148" "0" "30" "10" "50732318" "50732318" "subst" "0.00114762" "02326" "ERCC6_000078" "g.50732318G>C" "" "" "" "ERCC6(NM_000124.2):c.1158C>G (p.D386E, p.(Asp386Glu)), ERCC6(NM_001346440.1):c.1158C>G (p.D386E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889149" "0" "10" "10" "50732330" "50732330" "subst" "0.00190358" "02326" "ERCC6_000079" "g.50732330C>T" "" "" "" "ERCC6(NM_000124.2):c.1146G>A (p.E382=), ERCC6(NM_001346440.1):c.1146G>A (p.E382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889150" "0" "50" "10" "50732331" "50732331" "subst" "0.000185001" "01943" "ERCC6_000140" "g.50732331T>C" "" "" "" "ERCC6(NM_001346440.1):c.1145A>G (p.E382G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889151" "0" "90" "10" "50732341" "50732341" "subst" "0" "02327" "ERCC6_000080" "g.50732341C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000904800" "3" "70" "10" "50682148" "50682148" "subst" "0" "00006" "ERCC6_000141" "g.50682148C>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.49474102C>A" "" "VUS" "" "0000913283" "0" "30" "10" "50678722" "50678722" "subst" "0.00286816" "02326" "ERCC6_000031" "g.50678722G>C" "" "" "" "ERCC6(NM_000124.2):c.3284C>G (p.P1095R), ERCC6(NM_001346440.1):c.3284C>G (p.P1095R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925158" "0" "50" "10" "50732202" "50732202" "subst" "0.00174366" "02325" "ERCC6_000074" "g.50732202T>G" "" "" "" "ERCC6(NM_000124.2):c.1274A>C (p.D425A), ERCC6(NM_000124.4):c.1274A>C (p.D425A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925159" "0" "50" "10" "50732674" "50732674" "subst" "0" "02329" "ERCC6_000110" "g.50732674C>T" "" "" "" "ERCC6(NM_001346440.2):c.802G>A (p.A268T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929679" "0" "30" "10" "50678829" "50678829" "subst" "0.00256594" "02326" "ERCC6_000034" "g.50678829A>G" "" "" "" "ERCC6(NM_000124.2):c.3177T>C (p.S1059=), ERCC6(NM_001346440.1):c.3177T>C (p.S1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949397" "0" "50" "10" "50666988" "50666988" "subst" "2.43831E-5" "02325" "ERCC6_000142" "g.50666988T>C" "" "" "" "ERCC6(NM_000124.4):c.4355A>G (p.Q1452R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949398" "0" "50" "10" "50667034" "50667034" "subst" "7.31749E-5" "02325" "ERCC6_000100" "g.50667034A>T" "" "" "" "ERCC6(NM_000124.3):c.4309T>A (p.(Phe1437Ile)), ERCC6(NM_000124.4):c.4309T>A (p.F1437I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949399" "0" "90" "10" "50678610" "50678610" "del" "0" "02325" "ERCC6_000143" "g.50678610del" "" "" "" "ERCC6(NM_000124.4):c.3397delT (p.S1133Qfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949400" "0" "50" "10" "50681043" "50681043" "subst" "0.000552769" "02325" "ERCC6_000047" "g.50681043G>A" "" "" "" "ERCC6(NM_000124.2):c.2741C>T (p.T914M), ERCC6(NM_000124.4):c.2741C>T (p.(Thr914Met), p.T914M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949401" "0" "50" "10" "50690849" "50690849" "subst" "4.06283E-6" "02325" "ERCC6_000144" "g.50690849G>C" "" "" "" "ERCC6(NM_000124.4):c.2053C>G (p.L685V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960280" "11" "90" "10" "50686483" "50686483" "subst" "6.91175E-5" "00006" "ERCC6_000055" "g.50686483G>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.49478437G>A" "1701" "pathogenic (recessive)" "" "0000960288" "21" "90" "10" "49383876" "52383915" "del" "0" "00006" "ERCC6_000145" "g.(?_49383876)_(52383915_?)del" "" "{PMID:Poli 2024:38177409}" "" "seq[GRCh37]chr10:49383876-52383915del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000965733" "0" "50" "10" "50732137" "50732137" "subst" "0.000115028" "02325" "ERCC6_000072" "g.50732137G>A" "" "" "" "ERCC6(NM_000124.2):c.1339C>T (p.R447W), ERCC6(NM_000124.4):c.1339C>T (p.R447W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979047" "0" "50" "10" "50678911" "50678911" "subst" "4.06659E-5" "01804" "ERCC6_000147" "g.50678911G>C" "" "" "" "ERCC6(NM_000124.4):c.3095C>G (p.(Pro1032Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979048" "0" "50" "10" "50681043" "50681043" "subst" "0.000552769" "01804" "ERCC6_000047" "g.50681043G>A" "" "" "" "ERCC6(NM_000124.2):c.2741C>T (p.T914M), ERCC6(NM_000124.4):c.2741C>T (p.(Thr914Met), p.T914M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979049" "0" "50" "10" "50701183" "50701183" "subst" "0.000235728" "01804" "ERCC6_000062" "g.50701183C>T" "" "" "" "ERCC6(NM_000124.2):c.1801G>A (p.G601S), ERCC6(NM_000124.4):c.1801G>A (p.(Gly601Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979050" "0" "50" "10" "50708600" "50708600" "subst" "3.25553E-5" "01804" "ERCC6_000148" "g.50708600G>A" "" "" "" "ERCC6(NM_000124.4):c.1669C>T (p.(Arg557Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979051" "0" "50" "10" "50708616" "50708617" "ins" "0" "01804" "ERCC6_000149" "g.50708616_50708617insA" "" "" "" "ERCC6(NM_000124.4):c.1652_1653insT (p.(Ser552Glnfs*13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979052" "0" "50" "10" "50724538" "50724538" "subst" "0.000532642" "01804" "ERCC6_000150" "g.50724538A>C" "" "" "" "ERCC6(NM_001277058.2):c.2027T>G (p.(Val676Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979053" "0" "50" "10" "50740861" "50740861" "subst" "0.000840555" "01804" "ERCC6_000088" "g.50740861C>T" "" "" "" "ERCC6(NM_000124.2):c.150G>A (p.V50=), ERCC6(NM_000124.4):c.150G>A (p.(Val50=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989870" "0" "70" "10" "50678378" "50678378" "subst" "0" "00006" "ERCC6_000151" "g.50678378T>A" "" "{PMID:Cappi 2016:27023170}" "" "K1210X" "" "De novo" "" "" "0" "" "" "g.49470332T>A" "" "likely pathogenic" "" "0000998310" "0" "50" "10" "50684308" "50684308" "subst" "1.21882E-5" "01804" "ERCC6_000152" "g.50684308A>C" "" "" "" "ERCC6(NM_000124.3):c.2335T>G (p.(Phe779Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998311" "0" "30" "10" "50708610" "50708610" "subst" "0.000203414" "01804" "ERCC6_000153" "g.50708610C>A" "" "" "" "ERCC6(NM_000124.3):c.1659G>T (p.(Lys553Asn)), ERCC6(NM_000124.4):c.1659G>T (p.K553N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998312" "0" "90" "10" "50736565" "50736565" "subst" "4.0623E-6" "01804" "ERCC6_000154" "g.50736565G>A" "" "" "" "ERCC6(NM_000124.3):c.550C>T (p.(Gln184*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014623" "0" "50" "10" "50724761" "50724761" "subst" "8.53735E-5" "02325" "ERCC6_000155" "g.50724761C>T" "" "" "" "ERCC6(NM_001277058.2):c.1804G>A (p.D602N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014624" "0" "50" "10" "50732317" "50732317" "subst" "0.000164393" "02325" "ERCC6_000077" "g.50732317C>T" "" "" "" "ERCC6(NM_000124.2):c.1159G>A (p.E387K), ERCC6(NM_000124.4):c.1159G>A (p.E387K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014625" "0" "50" "10" "50732497" "50732497" "subst" "8.12744E-6" "02325" "ERCC6_000156" "g.50732497G>A" "" "" "" "ERCC6(NM_000124.4):c.979C>T (p.R327C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020221" "3" "70" "10" "50679018" "50679018" "subst" "0" "04787" "ERCC6_000157" "g.50679018T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.49470972T>C" "" "VUS" "ACMG" "0001025745" "0" "50" "10" "50680965" "50680965" "subst" "0" "02325" "ERCC6_000158" "g.50680965G>C" "" "" "" "ERCC6(NM_000124.4):c.2819C>G (p.T940R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037905" "0" "50" "10" "50680494" "50680494" "subst" "0" "01804" "ERCC6_000159" "g.50680494A>G" "" "" "" "ERCC6(NM_000124.4):c.2852T>C (p.(Ile951Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037906" "0" "50" "10" "50682109" "50682109" "subst" "0" "01804" "ERCC6_000160" "g.50682109C>T" "" "" "" "ERCC6(NM_000124.4):c.2562G>A (p.(Gln854=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037907" "0" "50" "10" "50686425" "50686425" "subst" "6.90602E-5" "01804" "ERCC6_000161" "g.50686425A>G" "" "" "" "ERCC6(NM_000124.4):c.2261T>C (p.(Leu754Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037908" "0" "50" "10" "50708610" "50708610" "subst" "0.000203414" "02325" "ERCC6_000153" "g.50708610C>A" "" "" "" "ERCC6(NM_000124.3):c.1659G>T (p.(Lys553Asn)), ERCC6(NM_000124.4):c.1659G>T (p.K553N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037909" "0" "70" "10" "50736541" "50736541" "subst" "0" "01804" "ERCC6_000162" "g.50736541G>A" "" "" "" "ERCC6(NM_000124.4):c.574C>T (p.(Gln192*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046238" "0" "50" "10" "50701212" "50701212" "subst" "0.000142222" "02327" "ERCC6_000107" "g.50701212G>A" "" "" "" "ERCC6(NM_000124.2):c.1772C>T (p.P591L)" "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 ERCC6 ## Count = 214 "{{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}}" "0000000153" "00000177" "50" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Gln723*)" "" "0000000154" "00000177" "50" "3537" "0" "3538" "0" "c.3537_3538del" "r.(?)" "p.(Tyr1179*)" "" "0000000155" "00000177" "50" "2591" "0" "2591" "0" "c.2591C>G" "r.(?)" "p.(Ser864*)" "" "0000000156" "00000177" "50" "2167" "0" "2167" "0" "c.2167C>A" "r.(?)" "p.(Gln723Lys)" "" "0000079533" "00000177" "00" "3391" "0" "3391" "0" "c.3391A>G" "r.(?)" "p.(Asn1131Asp)" "" "0000079534" "00000177" "00" "3391" "0" "3391" "0" "c.3391A>G" "r.(?)" "p.(Asn1131Asp)" "" "0000079685" "00000177" "00" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(His649Tyr)" "" "0000079686" "00000177" "00" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(His649Tyr)" "" "0000249421" "00000177" "30" "3650" "0" "3650" "0" "c.3650T>G" "r.(?)" "p.(Phe1217Cys)" "" "0000254141" "00000177" "30" "3186" "0" "3186" "0" "c.3186T>C" "r.(?)" "p.(Ser1062=)" "" "0000254230" "00000177" "30" "3177" "0" "3177" "0" "c.3177T>C" "r.(?)" "p.(Ser1059=)" "" "0000254416" "00000177" "30" "3456" "0" "3456" "0" "c.3456T>G" "r.(?)" "p.(Gly1152=)" "" "0000254687" "00000177" "30" "1445" "0" "1445" "0" "c.1445T>G" "r.(?)" "p.(Leu482Arg)" "" "0000254764" "00000177" "30" "4095" "0" "4095" "0" "c.4095T>A" "r.(?)" "p.(Asn1365Lys)" "" "0000255265" "00000177" "30" "2925" "-8" "2925" "-8" "c.2925-8T>A" "r.(=)" "p.(=)" "" "0000255643" "00000177" "90" "2551" "0" "2551" "0" "c.2551T>C" "r.(?)" "p.(Trp851Arg)" "" "0000256271" "00000177" "50" "2396" "0" "2396" "0" "c.2396T>G" "r.(?)" "p.(Leu799Arg)" "" "0000256277" "00000177" "50" "2648" "0" "2648" "0" "c.2648T>G" "r.(?)" "p.(Leu883Arg)" "" "0000267876" "00000177" "30" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Gly446Asp)" "" "0000267877" "00000177" "10" "135" "0" "135" "0" "c.135C>G" "r.(?)" "p.(Leu45=)" "" "0000267878" "00000177" "10" "1397" "8063" "1397" "8063" "c.1397+8063G>A" "r.(=)" "p.(=)" "" "0000267879" "00000177" "10" "1397" "8395" "1397" "8395" "c.1397+8395C>T" "r.(=)" "p.(=)" "" "0000267880" "00000177" "50" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Arg557His)" "" "0000267881" "00000177" "10" "1821" "7" "1821" "7" "c.1821+7C>T" "r.(=)" "p.(=)" "" "0000267882" "00000177" "90" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652Ter)" "" "0000267883" "00000177" "10" "2382" "823" "2382" "823" "c.2382+823A>G" "r.(=)" "p.(=)" "" "0000267884" "00000177" "50" "2390" "0" "2390" "0" "c.2390C>G" "r.(?)" "p.(Ser797Cys)" "" "0000267885" "00000177" "10" "3289" "0" "3289" "0" "c.3289A>G" "r.(?)" "p.(Met1097Val)" "" "0000267886" "00000177" "50" "3310" "0" "3310" "0" "c.3310A>T" "r.(?)" "p.(Asn1104Tyr)" "" "0000267887" "00000177" "10" "3637" "0" "3637" "0" "c.3637A>G" "r.(?)" "p.(Arg1213Gly)" "" "0000267888" "00000177" "50" "3962" "0" "3962" "0" "c.3962C>G" "r.(?)" "p.(Ser1321Cys)" "" "0000267889" "00000177" "10" "4238" "0" "4238" "0" "c.4238A>G" "r.(?)" "p.(Gln1413Arg)" "" "0000276310" "00000177" "30" "1044" "0" "1044" "0" "c.1044G>A" "r.(?)" "p.(Leu348=)" "" "0000276311" "00000177" "30" "1146" "0" "1146" "0" "c.1146G>A" "r.(?)" "p.(Glu382=)" "" "0000276312" "00000177" "30" "1158" "0" "1158" "0" "c.1158C>G" "r.(?)" "p.(Asp386Glu)" "" "0000276313" "00000177" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" "0000276314" "00000177" "30" "1170" "0" "1170" "0" "c.1170G>A" "r.(?)" "p.(Gly390=)" "" "0000276315" "00000177" "10" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Gly399Asp)" "" "0000276316" "00000177" "50" "1274" "0" "1274" "0" "c.1274A>C" "r.(?)" "p.(Asp425Ala)" "" "0000276318" "00000177" "50" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Trp)" "" "0000276319" "00000177" "10" "135" "0" "135" "0" "c.135C>G" "r.(?)" "p.(Leu45=)" "" "0000276320" "00000177" "50" "1457" "0" "1457" "0" "c.1457C>G" "r.(?)" "p.(Ser486Cys)" "" "0000276321" "00000177" "30" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Val50=)" "" "0000276322" "00000177" "30" "1650" "0" "1650" "0" "c.1650C>T" "r.(?)" "p.(Ser550=)" "" "0000276323" "00000177" "30" "1397" "7197" "1397" "7197" "c.1397+7197G>A" "r.(=)" "p.(=)" "" "0000276324" "00000177" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "" "0000276325" "00000177" "10" "1821" "7" "1821" "7" "c.1821+7C>T" "r.(=)" "p.(=)" "" "0000276326" "00000177" "10" "2082" "0" "2082" "0" "c.2082G>A" "r.(?)" "p.(Pro694=)" "" "0000276327" "00000177" "30" "1397" "7671" "1397" "7671" "c.1397+7671C>T" "r.(=)" "p.(=)" "" "0000276328" "00000177" "50" "2183" "0" "2183" "0" "c.2183A>C" "r.(?)" "p.(Tyr728Ser)" "" "0000276329" "00000177" "90" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Ter)" "" "0000276330" "00000177" "90" "2287" "-2" "2287" "-2" "c.2287-2A>G" "r.spl?" "p.?" "" "0000276331" "00000177" "50" "2390" "0" "2390" "0" "c.2390C>G" "r.(?)" "p.(Ser797Cys)" "" "0000276332" "00000177" "30" "2406" "0" "2406" "0" "c.2406A>G" "r.(?)" "p.(Leu802=)" "" "0000276333" "00000177" "50" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Thr914Met)" "" "0000276334" "00000177" "10" "2751" "0" "2751" "0" "c.2751C>T" "r.(?)" "p.(Gly917=)" "" "0000276335" "00000177" "90" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Arg947Ter)" "" "0000276336" "00000177" "50" "2934" "0" "2934" "0" "c.2934C>G" "r.(?)" "p.(Phe978Leu)" "" "0000276337" "00000177" "50" "2980" "0" "2980" "0" "c.2980C>T" "r.(?)" "p.(Arg994Trp)" "" "0000276338" "00000177" "50" "2990" "0" "2990" "0" "c.2990A>T" "r.(?)" "p.(Lys997Ile)" "" "0000276339" "00000177" "10" "3010" "0" "3010" "0" "c.3010C>T" "r.(?)" "p.(Leu1004=)" "" "0000276340" "00000177" "50" "3061" "0" "3061" "0" "c.3061A>G" "r.(?)" "p.(Ile1021Val)" "" "0000276341" "00000177" "30" "3129" "0" "3129" "0" "c.3129C>A" "r.(?)" "p.(Ala1043=)" "" "0000276342" "00000177" "30" "3187" "0" "3187" "0" "c.3187G>A" "r.(?)" "p.(Val1063Ile)" "" "0000276343" "00000177" "30" "3284" "0" "3284" "0" "c.3284C>G" "r.(?)" "p.(Pro1095Arg)" "" "0000276344" "00000177" "10" "3289" "0" "3289" "0" "c.3289A>G" "r.(?)" "p.(Met1097Val)" "" "0000276345" "00000177" "30" "3391" "0" "3391" "0" "c.3391A>G" "r.(?)" "p.(Asn1131Asp)" "" "0000276346" "00000177" "30" "3581" "0" "3581" "0" "c.3581A>G" "r.(?)" "p.(Glu1194Gly)" "" "0000276347" "00000177" "10" "3637" "0" "3637" "0" "c.3637A>G" "r.(?)" "p.(Arg1213Gly)" "" "0000276348" "00000177" "10" "3659" "0" "3659" "0" "c.3659C>T" "r.(?)" "p.(Thr1220Ile)" "" "0000276349" "00000177" "10" "3689" "0" "3689" "0" "c.3689G>C" "r.(?)" "p.(Arg1230Pro)" "" "0000276350" "00000177" "30" "3715" "0" "3715" "0" "c.3715A>C" "r.(?)" "p.(Lys1239Gln)" "" "0000276351" "00000177" "10" "3774" "0" "3774" "0" "c.3774A>G" "r.(?)" "p.(Lys1258=)" "" "0000276352" "00000177" "10" "3778" "16" "3778" "16" "c.3778+16C>T" "r.(=)" "p.(=)" "" "0000276353" "00000177" "30" "3804" "0" "3804" "0" "c.3804C>T" "r.(?)" "p.(His1268=)" "" "0000276354" "00000177" "30" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Val129Met)" "" "0000276355" "00000177" "30" "3922" "0" "3922" "0" "c.3922G>C" "r.(?)" "p.(Val1308Leu)" "" "0000276356" "00000177" "50" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Val1341Met)" "" "0000276357" "00000177" "50" "4223" "0" "4223" "0" "c.4223A>C" "r.(?)" "p.(Glu1408Ala)" "" "0000276358" "00000177" "30" "4228" "0" "4228" "0" "c.4228G>A" "r.(?)" "p.(Gly1410Arg)" "" "0000276359" "00000177" "10" "4238" "0" "4238" "0" "c.4238A>G" "r.(?)" "p.(Gln1413Arg)" "" "0000276360" "00000177" "50" "4264" "0" "4264" "0" "c.4264A>G" "r.(?)" "p.(Thr1422Ala)" "" "0000276361" "00000177" "10" "4322" "0" "4322" "0" "c.4322C>T" "r.(?)" "p.(Thr1441Ile)" "" "0000276362" "00000177" "30" "528" "0" "528" "0" "c.528A>G" "r.(?)" "p.(Arg176=)" "" "0000276363" "00000177" "50" "565" "0" "565" "0" "c.565A>G" "r.(?)" "p.(Thr189Ala)" "" "0000276364" "00000177" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000276365" "00000177" "90" "809" "0" "809" "0" "c.809del" "r.(?)" "p.(Gly270AlafsTer59)" "" "0000321514" "00000177" "50" "4114" "0" "4114" "0" "c.4114G>A" "r.(?)" "p.(Gly1372Arg)" "" "0000321515" "00000177" "50" "4063" "0" "4063" "0" "c.4063G>T" "r.(?)" "p.(Asp1355Tyr)" "" "0000321516" "00000177" "50" "3922" "0" "3922" "0" "c.3922G>C" "r.(?)" "p.(Val1308Leu)" "" "0000321517" "00000177" "50" "3719" "0" "3719" "0" "c.3719G>T" "r.(?)" "p.(Ser1240Ile)" "" "0000321519" "00000177" "50" "3122" "0" "3122" "0" "c.3122A>C" "r.(?)" "p.(Gln1041Pro)" "" "0000321520" "00000177" "50" "2771" "0" "2771" "0" "c.2771C>T" "r.(?)" "p.(Thr924Met)" "" "0000321521" "00000177" "50" "2766" "0" "2766" "0" "c.2766C>A" "r.(?)" "p.(Asn922Lys)" "" "0000321522" "00000177" "50" "2647" "0" "2647" "0" "c.2647C>T" "r.(?)" "p.(Leu883Phe)" "" "0000321523" "00000177" "50" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Arg666Cys)" "" "0000321524" "00000177" "50" "1397" "7763" "1397" "7763" "c.1397+7763G>A" "r.(=)" "p.(=)" "" "0000321527" "00000177" "30" "1158" "0" "1158" "0" "c.1158C>G" "r.(?)" "p.(Asp386Glu)" "" "0000338340" "00000177" "10" "-87" "0" "-87" "0" "c.-87C>A" "r.(?)" "p.(=)" "" "0000340212" "00000177" "10" "2751" "0" "2751" "0" "c.2751C>T" "r.(?)" "p.(Gly917=)" "" "0000340214" "00000177" "10" "411" "0" "411" "0" "c.411G>A" "r.(?)" "p.(Leu137=)" "" "0000340215" "00000177" "10" "135" "0" "135" "0" "c.135C>G" "r.(?)" "p.(Leu45=)" "" "0000340674" "00000177" "10" "528" "0" "528" "0" "c.528A>G" "r.(?)" "p.(Arg176=)" "" "0000341793" "00000177" "10" "3637" "0" "3637" "0" "c.3637A>G" "r.(?)" "p.(Arg1213Gly)" "" "0000341831" "00000177" "90" "3862" "0" "3862" "0" "c.3862C>T" "r.(?)" "p.(Arg1288Ter)" "" "0000341909" "00000177" "10" "4238" "0" "4238" "0" "c.4238A>G" "r.(?)" "p.(Gln1413Arg)" "" "0000343102" "00000177" "50" "1669" "0" "1669" "0" "c.1669C>G" "r.(?)" "p.(Arg557Gly)" "" "0000343319" "00000177" "90" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Ter)" "" "0000343504" "00000177" "90" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Arg947Ter)" "" "0000343531" "00000177" "50" "2924" "0" "2924" "0" "c.2924G>A" "r.(?)" "p.(Arg975Gln)" "" "0000346054" "00000177" "10" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Gly399Asp)" "" "0000347727" "00000177" "10" "3289" "0" "3289" "0" "c.3289A>G" "r.(?)" "p.(Met1097Val)" "" "0000349659" "00000177" "10" "2825" "0" "2825" "0" "c.2825C>T" "r.(?)" "p.(Thr942Met)" "" "0000350271" "00000177" "10" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Val129Met)" "" "0000351267" "00000177" "10" "1821" "7" "1821" "7" "c.1821+7C>T" "r.(=)" "p.(=)" "" "0000351268" "00000177" "10" "-78" "0" "-78" "0" "c.-78G>T" "r.(?)" "p.(=)" "" "0000539963" "00000177" "50" "4309" "0" "4309" "0" "c.4309T>A" "r.(?)" "p.(Phe1437Ile)" "" "0000539964" "00000177" "50" "4223" "0" "4223" "0" "c.4223A>C" "r.(?)" "p.(Glu1408Ala)" "" "0000539966" "00000177" "50" "3244" "0" "3244" "0" "c.3244G>T" "r.(?)" "p.(Ala1082Ser)" "" "0000539967" "00000177" "30" "3229" "0" "3229" "0" "c.3229G>C" "r.(?)" "p.(Gly1077Arg)" "" "0000539968" "00000177" "30" "3012" "0" "3012" "0" "c.3012A>G" "r.(?)" "p.(Leu1004=)" "" "0000539969" "00000177" "90" "2569" "0" "2569" "0" "c.2569C>T" "r.(?)" "p.(Arg857Ter)" "" "0000539970" "00000177" "50" "2390" "0" "2390" "0" "c.2390C>G" "r.(?)" "p.(Ser797Cys)" "" "0000539971" "00000177" "30" "2390" "0" "2390" "0" "c.2390C>G" "r.(?)" "p.(Ser797Cys)" "" "0000539972" "00000177" "50" "1946" "0" "1946" "0" "c.1946A>G" "r.(?)" "p.(His649Arg)" "" "0000539973" "00000177" "50" "1772" "0" "1772" "0" "c.1772C>T" "r.(?)" "p.(Pro591Leu)" "" "0000539974" "00000177" "30" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "" "0000539975" "00000177" "30" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Gly446Asp)" "" "0000539976" "00000177" "30" "1241" "0" "1241" "0" "c.1241A>C" "r.(?)" "p.(Gln414Pro)" "" "0000539979" "00000177" "50" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Asp216Asn)" "" "0000539980" "00000177" "10" "411" "0" "411" "0" "c.411G>A" "r.(?)" "p.(Leu137=)" "" "0000578034" "00000177" "00" "3693" "0" "3693" "0" "c.3693C>G" "r.(?)" "p.(Tyr1231*)" "" "0000612479" "00000177" "30" "3122" "0" "3122" "0" "c.3122A>C" "r.(?)" "p.(Gln1041Pro)" "" "0000612480" "00000177" "50" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Thr699Met)" "" "0000612481" "00000177" "50" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Arg666Cys)" "" "0000612482" "00000177" "50" "1397" "7750" "1397" "7750" "c.1397+7750G>T" "r.(=)" "p.(=)" "" "0000612483" "00000177" "70" "643" "0" "643" "0" "c.643G>T" "r.(?)" "p.(Glu215Ter)" "" "0000622388" "00000177" "30" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479Cys)" "" "0000647903" "00000177" "30" "2875" "0" "2875" "0" "c.2875G>T" "r.(?)" "p.(Val959Leu)" "" "0000647904" "00000177" "30" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Thr914Met)" "" "0000647905" "00000177" "90" "2008" "0" "2008" "0" "c.2008C>T" "r.(?)" "p.(Arg670Trp)" "" "0000647906" "00000177" "30" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Gly446Asp)" "" "0000656490" "00000177" "30" "3482" "0" "3482" "0" "c.3482G>C" "r.(?)" "p.(Ser1161Thr)" "" "0000656491" "00000177" "30" "3481" "0" "3481" "0" "c.3481A>C" "r.(?)" "p.(Ser1161Arg)" "" "0000656492" "00000177" "30" "3122" "0" "3122" "0" "c.3122A>C" "r.(?)" "p.(Gln1041Pro)" "" "0000669060" "00000177" "30" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Gly446Asp)" "" "0000690721" "00000177" "30" "1397" "8066" "1397" "8066" "c.1397+8066T>C" "r.(=)" "p.(=)" "" "0000722827" "00000177" "50" "3061" "0" "3061" "0" "c.3061A>G" "r.(?)" "p.(Ile1021Val)" "" "0000722828" "00000177" "50" "2924" "0" "2924" "0" "c.2924G>A" "r.(?)" "p.(Arg975Gln)" "" "0000722829" "00000177" "30" "1992" "7" "1992" "7" "c.1992+7C>T" "r.(=)" "p.(=)" "" "0000722830" "00000177" "50" "1397" "7657" "1397" "7657" "c.1397+7657C>T" "r.(=)" "p.(=)" "" "0000722831" "00000177" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176*)" "" "0000763778" "00000177" "50" "2924" "0" "2924" "0" "c.2924G>A" "r.(?)" "p.(Arg975Gln)" "" "0000785577" "00000177" "50" "3223" "0" "3223" "0" "c.3223G>A" "r.(?)" "p.(Ala1075Thr)" "" "0000786857" "00000177" "90" "1012" "0" "1012" "0" "c.1012del" "r.(?)" "p.(Arg338GlyfsTer22)" "5" "0000786858" "00000177" "90" "1536" "0" "1536" "0" "c.1536dup" "r.(?)" "p.(Thr513AspfsTer4)" "7" "0000787473" "00000177" "90" "4063" "-1" "4063" "-1" "c.4063-1G>C" "r.spl" "p.?" "20i" "0000804436" "00000177" "50" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Arg666Cys)" "" "0000804437" "00000177" "30" "1992" "7" "1992" "7" "c.1992+7C>T" "r.(=)" "p.(=)" "" "0000804438" "00000177" "90" "1526" "1" "1526" "1" "c.1526+1G>T" "r.spl?" "p.?" "" "0000804439" "00000177" "50" "1397" "7904" "1397" "7904" "c.1397+7904C>T" "r.(=)" "p.(=)" "" "0000804440" "00000177" "30" "1397" "7359" "1397" "7359" "c.1397+7359A>G" "r.(=)" "p.(=)" "" "0000804441" "00000177" "50" "1378" "0" "1378" "0" "c.1378T>G" "r.(?)" "p.(Tyr460Asp)" "" "0000804442" "00000177" "30" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Asp128=)" "" "0000852494" "00000177" "30" "3456" "0" "3456" "0" "c.3456T>G" "r.(?)" "p.(Gly1152=)" "" "0000861914" "00000177" "30" "4223" "0" "4223" "0" "c.4223A>C" "r.(?)" "p.(Glu1408Ala)" "" "0000861915" "00000177" "50" "2924" "0" "2924" "0" "c.2924G>A" "r.(?)" "p.(Arg975Gln)" "" "0000861916" "00000177" "50" "1379" "0" "1379" "0" "c.1379A>C" "r.(?)" "p.(Tyr460Ser)" "" "0000861917" "00000177" "30" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Lys329Arg)" "" "0000861918" "00000177" "50" "147" "0" "147" "0" "c.147T>C" "r.(?)" "p.(Ser49=)" "" "0000889143" "00000177" "50" "4228" "0" "4228" "0" "c.4228G>A" "r.(?)" "p.(Gly1410Arg)" "" "0000889144" "00000177" "50" "4065" "0" "4065" "0" "c.4065T>G" "r.(?)" "p.(Asp1355Glu)" "" "0000889145" "00000177" "50" "2735" "0" "2735" "0" "c.2735T>C" "r.(?)" "p.(Leu912Pro)" "" "0000889146" "00000177" "50" "1397" "7450" "1397" "7450" "c.1397+7450T>C" "r.(=)" "p.(=)" "" "0000889147" "00000177" "50" "1397" "7070" "1397" "7073" "c.1397+7070_1397+7073del" "r.(=)" "p.(=)" "" "0000889148" "00000177" "30" "1158" "0" "1158" "0" "c.1158C>G" "r.(?)" "p.(Asp386Glu)" "" "0000889149" "00000177" "10" "1146" "0" "1146" "0" "c.1146G>A" "r.(?)" "p.(Glu382=)" "" "0000889150" "00000177" "50" "1145" "0" "1145" "0" "c.1145A>G" "r.(?)" "p.(Glu382Gly)" "" "0000889151" "00000177" "90" "1135" "0" "1135" "0" "c.1135G>T" "r.(?)" "p.(Glu379Ter)" "" "0000904800" "00000177" "70" "2523" "0" "2523" "0" "c.2523G>T" "r.(?)" "p.(Met841Ile)" "" "0000913283" "00000177" "30" "3284" "0" "3284" "0" "c.3284C>G" "r.(?)" "p.(Pro1095Arg)" "" "0000925158" "00000177" "50" "1274" "0" "1274" "0" "c.1274A>C" "r.(?)" "p.(Asp425Ala)" "" "0000925159" "00000177" "50" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Ala268Thr)" "" "0000929679" "00000177" "30" "3177" "0" "3177" "0" "c.3177T>C" "r.(?)" "p.(Ser1059=)" "" "0000949397" "00000177" "50" "4355" "0" "4355" "0" "c.4355A>G" "r.(?)" "p.(Gln1452Arg)" "" "0000949398" "00000177" "50" "4309" "0" "4309" "0" "c.4309T>A" "r.(?)" "p.(Phe1437Ile)" "" "0000949399" "00000177" "90" "3397" "0" "3397" "0" "c.3397del" "r.(?)" "p.(Ser1133Glnfs*19)" "" "0000949400" "00000177" "50" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Thr914Met)" "" "0000949401" "00000177" "50" "2053" "0" "2053" "0" "c.2053C>G" "r.(?)" "p.(Leu685Val)" "" "0000960280" "00000177" "90" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Ter)" "" "0000960288" "00000177" "90" "" "0" "" "0" "c.-154_*2370{0}" "r.0" "p.0" "" "0000965733" "00000177" "50" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Trp)" "" "0000979047" "00000177" "50" "3095" "0" "3095" "0" "c.3095C>G" "r.(?)" "p.(Pro1032Arg)" "" "0000979048" "00000177" "50" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Thr914Met)" "" "0000979049" "00000177" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "" "0000979050" "00000177" "50" "1669" "0" "1669" "0" "c.1669C>T" "r.(?)" "p.(Arg557Cys)" "" "0000979051" "00000177" "50" "1652" "0" "1653" "0" "c.1652_1653insT" "r.(?)" "p.(Ser552Glnfs*13)" "" "0000979052" "00000177" "50" "1397" "7541" "1397" "7541" "c.1397+7541T>G" "r.(=)" "p.(=)" "" "0000979053" "00000177" "50" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Val50=)" "" "0000989870" "00000177" "70" "3628" "0" "3628" "0" "c.3628A>T" "r.(?)" "p.(Lys1210Ter)" "" "0000998310" "00000177" "50" "2335" "0" "2335" "0" "c.2335T>G" "r.(?)" "p.(Phe779Val)" "" "0000998311" "00000177" "30" "1659" "0" "1659" "0" "c.1659G>T" "r.(?)" "p.(Lys553Asn)" "" "0000998312" "00000177" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Gln184*)" "" "0001014623" "00000177" "50" "1397" "7318" "1397" "7318" "c.1397+7318G>A" "r.(=)" "p.(=)" "" "0001014624" "00000177" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" "0001014625" "00000177" "50" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Arg327Cys)" "" "0001020221" "00000177" "70" "3070" "3" "3070" "3" "c.3070+3A>G" "r.spl" "p.0?" "17" "0001025745" "00000177" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Thr940Arg)" "" "0001037905" "00000177" "50" "2852" "0" "2852" "0" "c.2852T>C" "r.(?)" "p.(Ile951Thr)" "" "0001037906" "00000177" "50" "2562" "0" "2562" "0" "c.2562G>A" "r.(?)" "p.(=)" "" "0001037907" "00000177" "50" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Leu754Pro)" "" "0001037908" "00000177" "50" "1659" "0" "1659" "0" "c.1659G>T" "r.(?)" "p.(Lys553Asn)" "" "0001037909" "00000177" "70" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Gln192*)" "" "0001046238" "00000177" "50" "1772" "0" "1772" "0" "c.1772C>T" "r.(?)" "p.(Pro591Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000000010" "0000000155" "0000000057" "0000000153" "0000000057" "0000000154" "0000000057" "0000000156" "0000050553" "0000079533" "0000050553" "0000079685" "0000050554" "0000079534" "0000050554" "0000079686" "0000081523" "0000000153" "0000081524" "0000000154" "0000081525" "0000000155" "0000081526" "0000000156" "0000249286" "0000578034" "0000291214" "0000647903" "0000291215" "0000647904" "0000291216" "0000647905" "0000291217" "0000647906" "0000305372" "0000669060" "0000363235" "0000763778" "0000374745" "0000785577" "0000375506" "0000786857" "0000375507" "0000786858" "0000375507" "0000787473" "0000427440" "0000904800" "0000449797" "0000960280" "0000449797" "0000960288" "0000454921" "0000989870" "0000461113" "0001020221"