### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TERT) # 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}}" "TERT" "telomerase reverse transcriptase" "5" "p15.33" "unknown" "NG_009265.1" "UD_132085357302" "" "https://www.LOVD.nl/TERT" "The TERt Telomerase Database " "1" "11730" "" "187270" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. As a start data were copied from the TERT gene Telomerase Database." "" "g" "http://databases.lovd.nl/shared/refseq/TERT_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-06-19 12:46:44" "00000" "2025-10-10 14:38:02" ## 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}}" "00024211" "TERT" "transcript variant 1" "002" "NM_198253.2" "" "NP_937983.2" "" "" "" "-58" "3960" "3399" "1295162" "1253282" "00006" "2016-12-15 12:07:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01536" "IPF" "fibrosis, pulmonary, idiopathic (IPF)" "AD" "178500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-02-10 12:49:40" "02823" "anemia" "anemia, aplastic, incl. susceptibility to" "" "609135" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-02-28 09:08:20" "03509" "DKCB3" "dyskeratosis congenita, autosomal recessive, type 3 (DKCB-3)" "AR" "613988" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03510" "DKCA2;DCKB4" "dyskeratosis congenita, autosomal dominant, type 2 (DKCA-2, autosomal recessive (DKCB-4))" "AD;AR" "613989" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03718" "PFBMFT1" "fibrosis, pulmonary, and/or bone marrow failure, telomere-related, type 1 (PFBMFT-1)" "AD" "614742" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03837" "CMM9" "melanoma, cutaneous, malignant, susceptibility to, type 9 (CMM-9)" "AD" "615134" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TERT" "00908" "TERT" "03510" "TERT" "03718" "TERT" "03837" ## Individuals ## Do not remove or alter this header ## ## Count = 88 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00080987" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00105132" "" "" "" "1" "" "00006" "{PMID:Tsakiri 2007:17460043}" "" "" "" "" "" "0" "" "" "" "17460043-?" "00105133" "" "" "" "1" "" "00006" "{PMID:Armanios 2007:17392301}" "" "" "" "" "" "0" "" "" "" "17392301-?" "00105134" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-?" "00105135" "" "" "" "1" "" "00006" "{PMID:Calado 2009:19147845}" "" "" "" "" "" "0" "" "" "" "19147845-?" "00105136" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-?" "00105137" "" "" "" "1" "" "00006" "{PMID:Armanios 2007:17392301}" "" "" "" "" "" "0" "" "" "" "17392301-?" "00105138" "" "" "" "1" "" "00006" "{PMID:Armanios 2007:17392301}" "" "" "" "" "" "0" "" "" "" "17392301-?" "00105139" "" "" "" "1" "" "00006" "{PMID:Tsakiri 2007:17460043}" "" "" "" "" "" "0" "" "" "" "17460043-?" "00105140" "" "" "" "1" "" "00006" "{PMID:Parry 2011:21436073}" "" "" "" "" "" "0" "" "" "" "21436073-?" "00105141" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2005:15885610}" "" "" "" "" "" "0" "" "" "" "15885610-?" "00105142" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2005:15814878}" "" "" "" "" "" "0" "" "" "" "15814878-?" "00105143" "" "" "" "1" "" "00006" "{PMID:Calado 2009.1:19674077}" "" "" "" "" "" "0" "" "" "" "19674077-?" "00105144" "" "" "" "1" "" "00006" "{PMID:Du 2009:18931339}" "" "" "" "" "" "0" "" "" "" "18931339-?" "00105145" "" "" "" "1" "" "00006" "{PMID:Alder 2008:18753630}" "" "" "" "" "" "0" "" "" "" "18753630-?" "00105146" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-?" "00105147" "" "" "" "1" "" "00006" "{PMID:Calado 2009:19147845}" "" "" "" "" "" "0" "" "" "" "19147845-?" "00105148" "" "" "" "1" "" "00006" "{PMID:Calado 2009.2:19936245}" "" "" "" "" "" "0" "" "" "" "19936245-?" "00105149" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-?" "00105150" "" "" "" "1" "" "00006" "{PMID:Alder 2008:18753630}" "" "" "" "" "" "0" "" "" "" "18753630-?" "00105151" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2005:15814878}" "" "" "" "" "" "0" "" "" "" "15814878-?" "00105152" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2005:15814878}" "" "" "" "" "" "0" "" "" "" "15814878-?" "00105153" "" "" "" "1" "" "00006" "{PMID:Tsakiri 2007:17460043}" "" "" "" "" "" "0" "" "" "" "17460043-?" "00105154" "" "" "" "1" "" "00006" "{PMID:Calado 2009:19147845}" "" "" "" "" "" "0" "" "" "" "19147845-?" "00105155" "" "" "" "1" "" "00006" "{PMID:Collopy 2014:24763404}" "" "" "" "" "" "0" "" "" "" "24763404-?" "00105156" "" "" "" "1" "" "00006" "{PMID:Xin 2007:16990594}" "" "" "" "" "" "0" "" "" "" "16990594-?" "00105157" "" "" "" "1" "" "00006" "{PMID:Gramatges 2013:23538340}" "" "" "" "" "" "0" "" "" "" "23538340-?" "00105158" "" "" "" "1" "" "00006" "{PMID:Diaz de Leon 2010:20502709}" "" "" "" "" "" "0" "" "" "" "20502709-?" "00105159" "" "" "" "1" "" "00006" "{PMID:Diaz de Leon 2010:20502709}" "" "" "" "" "" "0" "" "" "" "20502709-?" "00105160" "" "" "" "1" "" "00006" "{PMID:Chambers 2012:22942352}" "" "" "" "" "" "0" "" "" "" "22942352-?" "00105161" "" "" "" "1" "" "00006" "{PMID:Liang 2006:16627250}" "" "" "" "" "" "0" "" "" "" "16627250-?" "00105162" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2005:15814878}" "" "" "" "" "" "0" "" "" "" "15814878-?" "00105163" "" "" "" "1" "" "00006" "{PMID:Cronkhite 2008:18635888}" "" "" "" "" "" "0" "" "" "" "18635888-?" "00105164" "" "" "" "1" "" "00006" "{PMID:Collopy 2014:24763404}" "" "" "" "" "" "0" "" "" "" "24763404-?" "00105165" "" "" "" "1" "" "00006" "{PMID:Du 2009:18931339}" "" "" "" "" "" "0" "" "" "" "18931339-?" "00105166" "" "" "" "1" "" "00006" "{PMID:Du 2008:18042801}" "" "" "" "" "" "0" "" "" "" "18042801-?" "00105167" "" "" "" "1" "" "00006" "{PMID:Du 2009:18931339}" "" "" "" "" "" "0" "" "" "" "18931339-?" "00105168" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-?" "00105169" "" "" "" "1" "" "00006" "{PMID:Parry 2011:21436073}" "" "" "" "" "" "0" "" "" "" "21436073-?" "00105170" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-?" "00105171" "" "" "" "1" "" "00006" "{PMID:Liang 2006:16627250}" "" "" "" "" "" "0" "" "" "" "16627250-?" "00105172" "" "" "" "1" "" "00006" "{PMID:Tsakiri 2007:17460043}" "" "" "" "" "" "0" "" "" "" "17460043-?" "00105173" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2005:15814878}" "" "" "" "" "" "0" "" "" "" "15814878-?" "00105174" "" "" "" "1" "" "00006" "{PMID:Marrone 2007.2:17785587}" "" "" "" "" "" "0" "" "" "" "17785587-?" "00105175" "" "" "" "1" "" "00006" "{PMID:Parry 2011:21436073}" "" "" "" "" "" "0" "" "" "" "21436073-?" "00105176" "" "" "" "1" "" "00006" "{PMID:Du 2008:18042801}" "" "" "" "" "" "0" "" "" "" "18042801-?" "00105177" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-?" "00105178" "" "" "" "1" "" "00006" "{PMID:Armanios 2007:17392301}" "" "" "" "" "" "0" "" "" "" "17392301-?" "00105179" "" "" "" "1" "" "00006" "{PMID:Tsakiri 2007:17460043}" "" "" "" "" "" "0" "" "" "" "17460043-?" "00105180" "" "" "" "1" "" "00006" "{PMID:Tsakiri 2007:17460043}" "" "" "" "" "" "0" "" "" "" "17460043-?" "00105181" "" "" "" "1" "" "00006" "{PMID:Diaz de Leon 2010:20502709}" "" "" "" "" "" "0" "" "" "" "20502709-?" "00105182" "" "" "" "1" "" "00006" "{PMID:Du 2008:18042801}" "" "" "" "" "" "0" "" "" "" "18042801-?" "00105183" "" "" "" "1" "" "00006" "{PMID:Calado 2009.1:19674077}" "" "" "" "" "" "0" "" "" "" "19674077-?" "00105184" "" "" "" "1" "" "00006" "{PMID:Marrone 2007.2:17785587}" "" "" "" "" "" "0" "" "" "" "17785587-?" "00105185" "" "" "" "1" "" "00006" "{PMID:Armanios 2005:16247010}" "" "" "" "" "" "0" "" "" "" "16247010-?" "00105186" "" "" "" "1" "" "00006" "{PMID:Parry 2011:21436073}" "" "" "" "" "" "0" "" "" "" "21436073-?" "00105187" "" "" "" "1" "" "00006" "{PMID:Gansner 2012:22512499}" "" "" "" "" "" "0" "" "" "" "22512499-?" "00105188" "" "" "" "1" "" "00006" "{PMID:Diaz de Leon 2010:20502709}" "" "" "" "" "" "0" "" "" "" "20502709-?" "00105189" "" "" "" "1" "" "00006" "{PMID:Diaz de Leon 2010:20502709}" "" "" "" "" "" "0" "" "" "" "20502709-?" "00105190" "" "" "" "1" "" "00006" "{PMID:Cronkhite 2008:18635888}" "" "" "" "" "" "0" "" "" "" "18635888-?" "00105191" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-?" "00105192" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2005:15885610}" "" "" "" "" "" "0" "" "" "" "15885610-?" "00105193" "" "" "" "1" "" "00006" "{PMID:Xin 2007:16990594}" "" "" "" "" "" "0" "" "" "" "16990594-?" "00105194" "" "" "" "1" "" "00006" "{PMID:Du 2009:18931339}" "" "" "" "" "" "0" "" "" "" "18931339-?" "00105195" "" "" "" "1" "" "00006" "{PMID:Cronkhite 2008:18635888}" "" "" "" "" "" "0" "" "" "" "18635888-?" "00105196" "" "" "" "1" "" "00006" "{PMID:Parry 2011:21436073}" "" "" "" "" "" "0" "" "" "" "21436073-?" "00105197" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-?" "00105198" "" "" "" "1" "" "00006" "{PMID:Cronkhite 2008:18635888}" "" "" "" "" "" "0" "" "" "" "18635888-?" "00105199" "" "" "" "1" "" "00006" "{PMID:Du 2009:18931339}" "" "" "" "" "" "0" "" "" "" "18931339-?" "00105200" "" "" "" "1" "" "00006" "{PMID:Alder 2008:18753630}" "" "" "" "" "" "0" "" "" "" "18753630-?" "00105201" "" "" "" "1" "" "00006" "{PMID:Calado 2009:19147845}" "" "" "" "" "" "0" "" "" "" "19147845-?" "00105202" "" "" "" "1" "" "00006" "{PMID:Diaz de Leon 2010:20502709}" "" "" "" "" "" "0" "" "" "" "20502709-?" "00105203" "" "" "" "1" "" "00006" "{PMID:El-Chemaly 2011:20966039}" "" "" "" "" "" "0" "" "" "" "20966039-?" "00105204" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2005:15814878}" "" "" "" "" "" "0" "" "" "" "15814878-?" "00105205" "" "" "" "1" "" "00006" "{PMID:Armanios 2007:17392301}" "" "" "" "" "" "0" "" "" "" "17392301-?" "00105206" "" "" "" "4" "" "00006" "{PMID:Tsakiri 2007:17460043}" "2-generation family, affected father and 3 sons" "M" "no" "United States" "" "0" "" "" "Hispanic" "17460043-Fam8PatII3" "00105207" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2005:15885610}" "" "" "" "" "" "0" "" "" "" "15885610-?" "00105208" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-?" "00105209" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-?" "00249425" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00293721" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293722" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293723" "" "" "" "67" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295624" "" "" "" "1" "" "03583" "{PMID:Juge 2017:28495692}" "" "M" "?" "France" ">48y" "0" "" "" "" "" "00305007" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308704" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 87 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00080987" "03509" "00105132" "03718" "00105133" "03718" "00105134" "02823" "00105135" "00908" "00105136" "02823" "00105137" "03718" "00105138" "03718" "00105139" "03718" "00105140" "03718" "00105141" "02823" "00105142" "02823" "00105143" "02823" "00105144" "00000" "00105145" "00000" "00105146" "00000" "00105147" "00908" "00105148" "03718" "00105149" "03510" "00105150" "00000" "00105151" "00000" "00105152" "00000" "00105153" "03718" "00105154" "00908" "00105155" "02823" "00105156" "00198" "00105157" "00198" "00105158" "03718" "00105159" "03718" "00105160" "03718" "00105161" "02823" "00105162" "02823" "00105163" "03718" "00105164" "02823" "00105165" "03510" "00105166" "03510" "00105167" "00198" "00105168" "03510" "00105169" "02823" "00105170" "03510" "00105171" "02823" "00105172" "03718" "00105173" "02823" "00105174" "03510" "00105175" "03718" "00105176" "02823" "00105177" "00198" "00105178" "03718" "00105179" "03718" "00105180" "03718" "00105181" "03718" "00105182" "02823" "00105183" "02823" "00105184" "03510" "00105185" "03510" "00105186" "02823" "00105187" "03718" "00105188" "03718" "00105189" "03718" "00105190" "03718" "00105191" "03510" "00105192" "03510" "00105193" "03510" "00105194" "02823" "00105195" "03718" "00105196" "02823" "00105197" "03510" "00105198" "03718" "00105199" "00908" "00105200" "00908" "00105201" "00908" "00105202" "03718" "00105203" "03718" "00105204" "02823" "00105205" "03718" "00105206" "03718" "00105207" "03510" "00105208" "03510" "00105209" "02823" "00293721" "00198" "00293722" "00198" "00293723" "00198" "00295624" "01536" "00305007" "00198" "00308704" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00908, 01157, 01536, 02823, 03509, 03510, 03718, 03837 ## Count = 75 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000060556" "03509" "00080987" "01758" "Familial, autosomal recessive" "" "Dyskeratosis congenita, autosomal recessive 4 (OMIM:613989)" "" "" "" "" "" "" "" "" "" "" "" "0000083028" "03718" "00105132" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis and fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083029" "03718" "00105133" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083030" "02823" "00105134" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083031" "00908" "00105135" "00006" "Unknown" "" "acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000083032" "02823" "00105136" "00006" "Unknown" "" "aplastic anemia, myelodysplastic syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000083033" "03718" "00105137" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083034" "03718" "00105138" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083035" "03718" "00105139" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083036" "03718" "00105140" "00006" "Unknown" "" "aplastic anemia and pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083037" "02823" "00105141" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083038" "02823" "00105142" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083039" "02823" "00105143" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083040" "00908" "00105147" "00006" "Unknown" "" "acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000083041" "03718" "00105148" "00006" "Familial, autosomal dominant" "" "pancytopenia, aplastic anemia, pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083042" "03510" "00105149" "00006" "Unknown" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083043" "03718" "00105153" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083044" "00908" "00105154" "00006" "Unknown" "" "acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000083045" "02823" "00105155" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083046" "00198" "00105156" "00006" "Unknown" "" "Heterozygote presents as aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083047" "00198" "00105157" "00006" "Familial, autosomal recessive" "" "Homozygote presents as Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000083048" "03718" "00105158" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083049" "03718" "00105159" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083050" "03718" "00105160" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083051" "02823" "00105161" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083052" "02823" "00105162" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083053" "03718" "00105163" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083054" "02823" "00105164" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083055" "03510" "00105165" "00006" "Unknown" "" "autosomal dominant dyskeratosis congenita and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083056" "03510" "00105166" "00006" "Unknown" "" "autosomal dominant dyskeratosis congenita and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083057" "00198" "00105167" "00006" "Unknown" "" "severe pancytopenia and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083058" "03510" "00105168" "00006" "Unknown" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083059" "02823" "00105169" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083060" "03510" "00105170" "00006" "Familial, autosomal recessive" "" "autosomal recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083061" "02823" "00105171" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083062" "03718" "00105172" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083063" "02823" "00105173" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083064" "03510" "00105174" "00006" "Familial, autosomal recessive" "" "autosomal recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083065" "03718" "00105175" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083066" "02823" "00105176" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083067" "00198" "00105177" "00006" "Unknown" "" "myelodysplastic syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000083068" "03718" "00105178" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083069" "03718" "00105179" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083070" "03718" "00105180" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis, fibrosis, and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083071" "03718" "00105181" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083072" "02823" "00105182" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083073" "02823" "00105183" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083074" "03510" "00105184" "00006" "Familial, autosomal recessive" "" "autosomal recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000083075" "03510" "00105185" "00006" "Unknown" "" "autosomal dominant dyskeratosis congenita and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083076" "02823" "00105186" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083077" "03718" "00105187" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083078" "03718" "00105188" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083079" "03718" "00105189" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083080" "03718" "00105190" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083081" "03510" "00105191" "00006" "Unknown" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083082" "03510" "00105192" "00006" "Unknown" "" "aplastic anemia and dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083083" "03510" "00105193" "00006" "Unknown" "" "aplastic anemia and dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083084" "02823" "00105194" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083085" "03718" "00105195" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083086" "02823" "00105196" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083087" "03510" "00105197" "00006" "Unknown" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083088" "03718" "00105198" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083089" "00908" "00105199" "00006" "Unknown" "" "acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000083090" "00908" "00105200" "00006" "Unknown" "" "acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000083091" "00908" "00105201" "00006" "Unknown" "" "acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000083092" "03718" "00105202" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083093" "03718" "00105203" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083094" "02823" "00105204" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083095" "03718" "00105205" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083096" "03718" "00105206" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis, fibrosis, and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083097" "03510" "00105207" "00006" "Familial, autosomal recessive" "" "resembles Hoyeraal Hreidarsson syndrome and autosomal recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083098" "03510" "00105208" "00006" "Familial, autosomal recessive" "" "resembles Hoyeraal Hreidarsson syndrome and autosomal recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083099" "02823" "00105209" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 88 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000081099" "00080987" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000105605" "00105132" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105606" "00105133" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105607" "00105134" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105608" "00105135" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105609" "00105136" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105610" "00105137" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105611" "00105138" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105612" "00105139" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105613" "00105140" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105614" "00105141" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105615" "00105142" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105616" "00105143" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105617" "00105144" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105618" "00105145" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105619" "00105146" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105620" "00105147" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105621" "00105148" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105622" "00105149" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105623" "00105150" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105624" "00105151" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105625" "00105152" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105626" "00105153" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105627" "00105154" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105628" "00105155" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105629" "00105156" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105630" "00105157" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105631" "00105158" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105632" "00105159" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105633" "00105160" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105634" "00105161" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105635" "00105162" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105636" "00105163" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105637" "00105164" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105638" "00105165" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105639" "00105166" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105640" "00105167" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105641" "00105168" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105642" "00105169" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105643" "00105170" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105644" "00105171" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105645" "00105172" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105646" "00105173" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105647" "00105174" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105648" "00105175" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105649" "00105176" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105650" "00105177" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105651" "00105178" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105652" "00105179" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105653" "00105180" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105654" "00105181" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105655" "00105182" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105656" "00105183" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105657" "00105184" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105658" "00105185" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105659" "00105186" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105660" "00105187" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105661" "00105188" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105662" "00105189" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105663" "00105190" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105664" "00105191" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105665" "00105192" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105666" "00105193" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105667" "00105194" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105668" "00105195" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105669" "00105196" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105670" "00105197" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105671" "00105198" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105672" "00105199" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105673" "00105200" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105674" "00105201" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105675" "00105202" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105676" "00105203" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105677" "00105204" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105678" "00105205" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105679" "00105206" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105680" "00105207" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105681" "00105208" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000105682" "00105209" "1" "00006" "01921" "2017-06-19 13:56:06" "" "" "SEQ" "DNA" "" "" "0000250533" "00249425" "1" "01164" "01164" "2019-07-31 15:28:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000294889" "00293721" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294890" "00293722" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294891" "00293723" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296795" "00295624" "1" "03583" "03583" "2020-03-20 13:51:25" "" "" "SEQ-NG" "DNA" "" "" "0000306136" "00305007" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309849" "00308704" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 81 "{{screeningid}}" "{{geneid}}" "0000081099" "TERT" "0000105605" "TERT" "0000105606" "TERT" "0000105607" "TERT" "0000105608" "TERT" "0000105609" "TERT" "0000105610" "TERT" "0000105611" "TERT" "0000105612" "TERT" "0000105613" "TERT" "0000105614" "TERT" "0000105615" "TERT" "0000105616" "TERT" "0000105617" "TERT" "0000105618" "TERT" "0000105619" "TERT" "0000105620" "TERT" "0000105621" "TERT" "0000105622" "TERT" "0000105623" "TERT" "0000105624" "TERT" "0000105625" "TERT" "0000105626" "TERT" "0000105627" "TERT" "0000105628" "TERT" "0000105629" "TERT" "0000105630" "TERT" "0000105631" "TERT" "0000105632" "TERT" "0000105633" "TERT" "0000105634" "TERT" "0000105635" "TERT" "0000105636" "TERT" "0000105637" "TERT" "0000105638" "TERT" "0000105639" "TERT" "0000105640" "TERT" "0000105641" "TERT" "0000105642" "TERT" "0000105643" "TERT" "0000105644" "TERT" "0000105645" "TERT" "0000105646" "TERT" "0000105647" "TERT" "0000105648" "TERT" "0000105649" "TERT" "0000105650" "TERT" "0000105651" "TERT" "0000105652" "TERT" "0000105653" "TERT" "0000105654" "TERT" "0000105655" "TERT" "0000105656" "TERT" "0000105657" "TERT" "0000105658" "TERT" "0000105659" "TERT" "0000105660" "TERT" "0000105661" "TERT" "0000105662" "TERT" "0000105663" "TERT" "0000105664" "TERT" "0000105665" "TERT" "0000105666" "TERT" "0000105667" "TERT" "0000105668" "TERT" "0000105669" "TERT" "0000105670" "TERT" "0000105671" "TERT" "0000105672" "TERT" "0000105673" "TERT" "0000105674" "TERT" "0000105675" "TERT" "0000105676" "TERT" "0000105677" "TERT" "0000105678" "TERT" "0000105679" "TERT" "0000105680" "TERT" "0000105681" "TERT" "0000105682" "TERT" "0000296795" "TERT" "0000309849" "TERT" ## 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 = 306 "{{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}}" "0000004071" "0" "50" "5" "1278584" "1278584" "subst" "0" "00037" "TERT_000001" "g.1278584C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.1278469C>T" "" "VUS" "" "0000010399" "0" "50" "5" "1278570" "1278571" "dup" "0" "00037" "TERT_000002" "g.1278570_1278571dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.1278455_1278456dup" "" "VUS" "" "0000130185" "3" "90" "5" "1294397" "1294397" "subst" "0.000295377" "01758" "TERT_000003" "g.1294397C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.1294282C>T" "" "pathogenic" "" "0000171055" "1" "90" "5" "1295008" "1295008" "subst" "0" "00006" "TERT_000072" "g.1295008G>A" "" "{PMID:Tsakiri 2007:17460043}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294893G>A" "" "pathogenic" "" "0000171056" "1" "90" "5" "1294941" "1294941" "subst" "0" "00006" "TERT_000071" "g.1294941A>T" "" "{PMID:Armanios 2007:17392301}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294826A>T" "" "pathogenic" "" "0000171057" "1" "90" "5" "1294939" "1294939" "subst" "0" "00006" "TERT_000070" "g.1294939C>G" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294824C>G" "" "pathogenic" "" "0000171058" "1" "90" "5" "1294912" "1294912" "subst" "8.64484E-6" "00006" "TERT_000069" "g.1294912G>C" "" "{PMID:Calado 2009:19147845}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294797G>C" "" "pathogenic" "" "0000171059" "1" "90" "5" "1294753" "1294753" "subst" "0" "00006" "TERT_000068" "g.1294753C>G" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294638C>G" "" "pathogenic" "" "0000171060" "1" "90" "5" "1294723" "1294723" "subst" "0" "00006" "TERT_000067" "g.1294723C>T" "" "{PMID:Armanios 2007:17392301}" "" "" "{DB-TEL:tert}\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.1294608C>T" "" "pathogenic" "" "0000171061" "1" "90" "5" "1294671" "1294671" "del" "0" "00006" "TERT_000066" "g.1294671del" "" "{PMID:Armanios 2007:17392301}" "" "c.(334_336)delC" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294556del" "" "pathogenic" "" "0000171062" "1" "90" "5" "1294571" "1294571" "subst" "0" "00006" "TERT_000065" "g.1294571C>T" "" "{PMID:Tsakiri 2007:17460043}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294456C>T" "" "pathogenic" "" "0000171063" "1" "90" "5" "1294493" "1294493" "subst" "5.45738E-6" "00006" "TERT_000064" "g.1294493C>T" "" "{PMID:Parry 2011:21436073}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294378C>T" "" "pathogenic" "" "0000171064" "1" "90" "5" "1294397" "1294397" "subst" "0.000295377" "00006" "TERT_000063" "g.1294397C>T" "" "{PMID:Vulliamy 2005:15885610}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294282C>T" "" "pathogenic" "" "0000171065" "1" "90" "5" "1294397" "1294397" "subst" "0.000295377" "00006" "TERT_000063" "g.1294397C>T" "" "{PMID:Yamaguchi 2005:15814878}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294282C>T" "" "pathogenic" "" "0000171066" "1" "90" "5" "1294222" "1294222" "subst" "4.85154E-5" "00006" "TERT_000062" "g.1294222C>T" "" "{PMID:Calado 2009.1:19674077}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294107C>T" "" "pathogenic" "" "0000171067" "1" "10" "5" "1294166" "1294166" "subst" "0.0226425" "00006" "TERT_000061" "g.1294166C>T" "" "{PMID:Du 2009:18931339}" "" "1849C>T" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294051C>T" "" "benign" "" "0000171068" "1" "10" "5" "1294166" "1294166" "subst" "0.0226425" "00006" "TERT_000061" "g.1294166C>T" "" "{PMID:Alder 2008:18753630}" "" "1849C>T" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294051C>T" "" "benign" "" "0000171069" "1" "10" "5" "1294166" "1294166" "subst" "0.0226425" "00006" "TERT_000061" "g.1294166C>T" "" "{PMID:Vulliamy 2006:16332973}" "" "1849C>T" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1294051C>T" "" "benign" "" "0000171070" "1" "90" "5" "1294106" "1294106" "subst" "0" "00006" "TERT_000060" "g.1294106C>T" "" "{PMID:Calado 2009:19147845}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1293991C>T" "" "pathogenic" "" "0000171071" "1" "90" "5" "1293898" "1293898" "subst" "0" "00006" "TERT_000059" "g.1293898G>A" "" "{PMID:Calado 2009.2:19936245}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1293783G>A" "" "pathogenic" "" "0000171072" "1" "90" "5" "1293859" "1293859" "subst" "3.02972E-5" "00006" "TERT_000058" "g.1293859C>G" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1293744C>G" "" "pathogenic" "" "0000171073" "1" "10" "5" "1293767" "1293767" "subst" "0.0032474" "00006" "TERT_000057" "g.1293767G>A" "" "{PMID:Alder 2008:18753630}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1293652G>A" "" "benign" "" "0000171074" "1" "10" "5" "1293767" "1293767" "subst" "0.0032474" "00006" "TERT_000057" "g.1293767G>A" "" "{PMID:Yamaguchi 2005:15814878}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1293652G>A" "" "benign" "" "0000171075" "1" "10" "5" "1293684" "1293686" "del" "0" "00006" "TERT_000056" "g.1293684_1293686del" "" "{PMID:Yamaguchi 2005:15814878}" "" "c.1321_1323delGAG" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1293569_1293571del" "" "benign" "" "0000171076" "1" "90" "5" "1293545" "1293545" "subst" "0" "00006" "TERT_000055" "g.1293545G>A" "" "{PMID:Tsakiri 2007:17460043}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1293430G>A" "" "pathogenic" "" "0000171077" "1" "90" "5" "1293436" "1293436" "subst" "0" "00006" "TERT_000054" "g.1293436C>T" "" "{PMID:Calado 2009:19147845}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1293321C>T" "" "pathogenic" "" "0000171078" "1" "90" "5" "1293431" "1293431" "subst" "0" "00006" "TERT_000053" "g.1293431G>C" "" "{PMID:Collopy 2014:24763404}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1293316G>C" "" "pathogenic" "" "0000171079" "1" "90" "5" "1282603" "1282603" "subst" "0" "00006" "TERT_000051" "g.1282603C>R" "" "{PMID:Xin 2007:16990594}" "" "c.1710G>(T_C)" "{DB-TEL:tert}\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.1282488C>R" "" "pathogenic" "" "0000171080" "3" "90" "5" "1282613" "1282613" "subst" "0" "00006" "TERT_000052" "g.1282613G>A" "" "{PMID:Gramatges 2013:23538340}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1282498G>A" "" "pathogenic" "" "0000171081" "1" "90" "5" "1280331" "1280331" "subst" "0" "00006" "TERT_000050" "g.1280331C>T" "" "{PMID:Diaz de Leon 2010:20502709}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1280216C>T" "" "pathogenic" "" "0000171082" "1" "90" "5" "1279525" "1279525" "subst" "0" "00006" "TERT_000049" "g.1279525G>A" "" "{PMID:Diaz de Leon 2010:20502709}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1279410G>A" "" "pathogenic" "" "0000171083" "1" "90" "5" "1279503" "1279503" "subst" "0" "00006" "TERT_000048" "g.1279503G>T" "" "{PMID:Chambers 2012:22942352}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1279388G>T" "" "pathogenic" "" "0000171084" "1" "90" "5" "1279491" "1279491" "subst" "0" "00006" "TERT_000047" "g.1279491C>T" "" "{PMID:Liang 2006:16627250}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1279376C>T" "" "pathogenic" "" "0000171085" "1" "90" "5" "1279456" "1279456" "subst" "0" "00006" "TERT_000046" "g.1279456C>T" "" "{PMID:Yamaguchi 2005:15814878}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1279341C>T" "" "pathogenic" "" "0000171086" "1" "90" "5" "1279431" "1279431" "subst" "0" "00006" "TERT_000045" "g.1279431G>A" "" "{PMID:Cronkhite 2008:18635888}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1279316G>A" "" "pathogenic" "" "0000171087" "1" "90" "5" "1278869" "1278869" "subst" "0" "00006" "TERT_000039" "g.1278869G>A" "" "{PMID:Collopy 2014:24763404}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1278754G>A" "" "pathogenic" "" "0000171088" "1" "90" "5" "1279426" "1279426" "subst" "0" "00006" "TERT_000044" "g.1279426G>A" "" "{PMID:Du 2009:18931339}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1279311G>A" "" "pathogenic" "" "0000171089" "1" "90" "5" "1279426" "1279426" "subst" "0" "00006" "TERT_000044" "g.1279426G>A" "" "{PMID:Du 2008:18042801}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1279311G>A" "" "pathogenic" "" "0000171090" "1" "90" "5" "1278895" "1278895" "subst" "0" "00006" "TERT_000042" "g.1278895G>A" "" "{PMID:Du 2009:18931339}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1278780G>A" "" "pathogenic" "" "0000171091" "1" "90" "5" "1278890" "1278890" "subst" "0" "00006" "TERT_000041" "g.1278890C>T" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1278775C>T" "" "pathogenic" "" "0000171092" "1" "90" "5" "1278896" "1278896" "subst" "0" "00006" "TERT_000043" "g.1278896C>T" "" "{PMID:Parry 2011:21436073}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1278781C>T" "" "pathogenic" "" "0000171093" "1" "90" "5" "1278880" "1278880" "subst" "0" "00006" "TERT_000040" "g.1278880G>C" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1278765G>C" "" "pathogenic" "" "0000171094" "1" "90" "5" "1278865" "1278865" "subst" "4.06078E-5" "00006" "TERT_000038" "g.1278865G>A" "" "{PMID:Liang 2006:16627250}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1278750G>A" "" "pathogenic" "" "0000171095" "1" "90" "5" "1278802" "1278802" "del" "0" "00006" "TERT_000037" "g.1278802del" "" "{PMID:Tsakiri 2007:17460043}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1278687del" "" "pathogenic" "" "0000171096" "1" "90" "5" "1272367" "1272367" "subst" "0" "00006" "TERT_000036" "g.1272367T>C" "" "{PMID:Yamaguchi 2005:15814878}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1272252T>C" "" "pathogenic" "" "0000171097" "1" "90" "5" "1271271" "1271271" "subst" "0" "00006" "TERT_000035" "g.1271271G>A" "" "{PMID:Marrone 2007.2:17785587}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1271156G>A" "" "pathogenic" "" "0000171098" "1" "90" "5" "1268696" "1268696" "subst" "0" "00006" "TERT_000034" "g.1268696G>A" "" "{PMID:Parry 2011:21436073}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1268581G>A" "" "pathogenic" "" "0000171099" "1" "90" "5" "1268680" "1268680" "subst" "0" "00006" "TERT_000033" "g.1268680T>C" "" "{PMID:Du 2008:18042801}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1268565T>C" "" "pathogenic" "" "0000171100" "1" "90" "5" "1268636" "1268636" "subst" "0" "00006" "TERT_000032" "g.1268636C>T" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1268521C>T" "" "pathogenic" "" "0000171101" "1" "90" "5" "1266652" "1266652" "subst" "0" "00006" "TERT_000031" "g.1266652T>G" "" "{PMID:Armanios 2007:17392301}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1266537T>G" "" "pathogenic" "" "0000171102" "1" "90" "5" "1266640" "1266640" "subst" "0" "00006" "TERT_000030" "g.1266640G>A" "" "{PMID:Tsakiri 2007:17460043}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1266525G>A" "" "pathogenic" "" "0000171103" "1" "90" "5" "1266639" "1266639" "subst" "8.3949E-6" "00006" "TERT_000029" "g.1266639C>T" "" "{PMID:Tsakiri 2007:17460043}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1266524C>T" "" "pathogenic" "" "0000171104" "1" "90" "5" "1266634" "1266634" "subst" "0" "00006" "TERT_000028" "g.1266634C>T" "" "{PMID:Diaz de Leon 2010:20502709}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1266519C>T" "" "pathogenic" "" "0000171105" "1" "90" "5" "1266605" "1266605" "subst" "0" "00006" "TERT_000027" "g.1266605G>C" "" "{PMID:Du 2008:18042801}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1266490G>C" "" "pathogenic" "" "0000171106" "1" "90" "5" "1264697" "1264697" "subst" "0" "00006" "TERT_000026" "g.1264697G>A" "" "{PMID:Calado 2009.1:19674077}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1264582G>A" "" "pathogenic" "" "0000171107" "1" "90" "5" "1264661" "1264661" "subst" "0" "00006" "TERT_000025" "g.1264661G>A" "" "{PMID:Marrone 2007.2:17785587}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1264546G>A" "" "pathogenic" "" "0000171108" "1" "90" "5" "1264656" "1264656" "subst" "0" "00006" "TERT_000023" "g.1264656C>G" "" "{PMID:Armanios 2005:16247010}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1264541C>G" "" "pathogenic" "" "0000171109" "1" "90" "5" "1264657" "1264657" "subst" "0" "00006" "TERT_000024" "g.1264657T>C" "" "{PMID:Parry 2011:21436073}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1264542T>C" "" "pathogenic" "" "0000171110" "1" "90" "5" "1264594" "1264594" "subst" "4.06408E-6" "00006" "TERT_000004" "g.1264594G>A" "" "{PMID:Gansner 2012:22512499}" "" "" "{DB-TEL:tert}\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000171111" "1" "90" "5" "1264587" "1264587" "subst" "4.06597E-6" "00006" "TERT_000022" "g.1264587G>T" "" "{PMID:Diaz de Leon 2010:20502709}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1264472G>T" "" "pathogenic" "" "0000171112" "1" "90" "5" "1260708" "1260708" "subst" "4.06283E-6" "00006" "TERT_000021" "g.1260708G>A" "" "{PMID:Diaz de Leon 2010:20502709}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1260593G>A" "" "pathogenic" "" "0000171113" "1" "90" "5" "1260690" "1260690" "subst" "0" "00006" "TERT_000020" "g.1260690T>G" "" "{PMID:Cronkhite 2008:18635888}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1260575T>G" "" "pathogenic" "" "0000171114" "1" "90" "5" "1260644" "1260644" "subst" "4.06108E-6" "00006" "TERT_000019" "g.1260644C>T" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1260529C>T" "" "pathogenic" "" "0000171115" "1" "90" "5" "1260624" "1260624" "subst" "0" "00006" "TERT_000018" "g.1260624G>A" "" "{PMID:Vulliamy 2005:15885610}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1260509G>A" "" "pathogenic" "" "0000171116" "1" "90" "5" "1260624" "1260624" "subst" "0" "00006" "TERT_000018" "g.1260624G>A" "" "{PMID:Xin 2007:16990594}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1260509G>A" "" "pathogenic" "" "0000171117" "1" "90" "5" "1255516" "1255516" "subst" "0" "00006" "TERT_000017" "g.1255516A>G" "" "{PMID:Du 2009:18931339}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1255401A>G" "" "pathogenic" "" "0000171118" "1" "90" "5" "1255504" "1255504" "subst" "0" "00006" "TERT_000016" "g.1255504G>A" "" "{PMID:Cronkhite 2008:18635888}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1255389G>A" "" "pathogenic" "" "0000171119" "1" "90" "5" "1255486" "1255486" "subst" "0" "00006" "TERT_000015" "g.1255486C>A" "" "{PMID:Parry 2011:21436073}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1255371C>A" "" "pathogenic" "" "0000171120" "1" "90" "5" "1255477" "1255477" "subst" "0" "00006" "TERT_000014" "g.1255477T>G" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1255362T>G" "" "pathogenic" "" "0000171121" "1" "90" "5" "1255411" "1255411" "subst" "0" "00006" "TERT_000013" "g.1255411T>C" "" "{PMID:Cronkhite 2008:18635888}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1255296T>C" "" "pathogenic" "" "0000171122" "1" "10" "5" "1254594" "1254594" "subst" "0.0123467" "00006" "TERT_000012" "g.1254594C>T" "" "{PMID:Du 2009:18931339}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1254479C>T" "" "benign" "" "0000171123" "1" "10" "5" "1254594" "1254594" "subst" "0.0123467" "00006" "TERT_000012" "g.1254594C>T" "" "{PMID:Alder 2008:18753630}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1254479C>T" "" "benign" "" "0000171124" "1" "10" "5" "1254594" "1254594" "subst" "0.0123467" "00006" "TERT_000012" "g.1254594C>T" "" "{PMID:Calado 2009:19147845}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1254479C>T" "" "benign" "" "0000171125" "1" "90" "5" "1254591" "1254591" "subst" "0" "00006" "TERT_000011" "g.1254591C>T" "" "{PMID:Diaz de Leon 2010:20502709}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1254476C>T" "" "pathogenic" "" "0000171126" "1" "90" "5" "1254527" "1254527" "subst" "0" "00006" "TERT_000010" "g.1254527C>G" "" "{PMID:El-Chemaly 2011:20966039}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1254412C>G" "" "pathogenic" "" "0000171127" "1" "90" "5" "1254510" "1254510" "subst" "5.28623E-5" "00006" "TERT_000009" "g.1254510C>T" "" "{PMID:Yamaguchi 2005:15814878}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1254395C>T" "" "pathogenic" "" "0000171128" "1" "90" "5" "1253913" "1253913" "subst" "3.33219E-5" "00006" "TERT_000008" "g.1253913G>A" "" "{PMID:Armanios 2007:17392301}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1253798G>A" "" "pathogenic" "" "0000171129" "1" "90" "5" "1253724" "1253900" "del" "0" "00006" "TERT_000005" "g.1253724_1253900del" "" "{PMID:Tsakiri 2007:17460043}" "" "3346_3522del177" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1253609_1253785del" "" "pathogenic" "" "0000171130" "1" "90" "5" "1253863" "1253863" "subst" "0" "00006" "TERT_000007" "g.1253863A>G" "" "{PMID:Vulliamy 2005:15885610}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1253748A>G" "" "pathogenic" "" "0000171131" "1" "90" "5" "1253863" "1253863" "subst" "0" "00006" "TERT_000007" "g.1253863A>G" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1253748A>G" "" "pathogenic" "" "0000171132" "1" "90" "5" "1253854" "1253854" "subst" "0" "00006" "TERT_000006" "g.1253854T>C" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tert}" "Germline" "" "" "0" "" "" "g.1253739T>C" "" "pathogenic" "" "0000254314" "0" "30" "5" "1282729" "1282729" "subst" "0" "01943" "TERT_000093" "g.1282729A>C" "" "" "" "TERT(NM_001193376.1):c.1584T>G (p.(Cys528Trp)), TERT(NM_198253.2):c.1584T>G (p.C528W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1282614A>C" "" "likely benign" "" "0000311782" "0" "30" "5" "1282755" "1282755" "subst" "0.00243009" "02325" "TERT_000095" "g.1282755C>G" "" "" "" "TERT(NM_198253.2):c.1574-16G>C, TERT(NM_198253.3):c.1574-16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1282640C>G" "" "likely benign" "" "0000311783" "0" "30" "5" "1280411" "1280411" "subst" "0.00242636" "02325" "TERT_000091" "g.1280411T>C" "" "" "" "TERT(NM_001193376.1):c.1812A>G (p.(Ala604=)), TERT(NM_198253.2):c.1812A>G (p.A604=), TERT(NM_198253.3):c.1812A>G (p.A604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1280296T>C" "" "likely benign" "" "0000311784" "0" "30" "5" "1279430" "1279430" "subst" "0.000491515" "02325" "TERT_000085" "g.1279430C>T" "" "" "" "TERT(NM_001193376.1):c.2106G>A (p.(Pro702=)), TERT(NM_198253.2):c.2106G>A (p.P702=), TERT(NM_198253.3):c.2106G>A (p.P702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1279315C>T" "" "likely benign" "" "0000311785" "0" "30" "5" "1279428" "1279428" "subst" "6.76125E-5" "02325" "TERT_000084" "g.1279428G>A" "" "" "" "TERT(NM_198253.3):c.2108C>T (p.P703L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1279313G>A" "" "likely benign" "" "0000311786" "0" "30" "5" "1294879" "1294879" "subst" "0.000319972" "02325" "TERT_000103" "g.1294879G>A" "" "" "" "TERT(NM_001193376.1):c.219+7C>T (p.(=)), TERT(NM_198253.2):c.219+7C>T, TERT(NM_198253.3):c.219+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294764G>A" "" "likely benign" "" "0000311787" "0" "30" "5" "1268618" "1268618" "subst" "0.000126939" "02325" "TERT_000081" "g.1268618G>A" "" "" "" "TERT(NM_198253.2):c.2582+17C>T, TERT(NM_198253.3):c.2582+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1268503G>A" "" "likely benign" "" "0000311788" "0" "30" "5" "1294356" "1294356" "subst" "0.000131451" "02325" "TERT_000100" "g.1294356G>A" "" "" "" "TERT(NM_198253.2):c.645C>T (p.G215=), TERT(NM_198253.3):c.645C>T (p.G215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294241G>A" "" "likely benign" "" "0000311789" "0" "10" "5" "1294166" "1294166" "subst" "0.0226425" "02325" "TERT_000061" "g.1294166C>T" "" "" "" "TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294051C>T" "" "benign" "" "0000311790" "0" "10" "5" "1294086" "1294086" "subst" "0.287761" "02325" "TERT_000097" "g.1294086C>T" "" "" "" "TERT(NM_198253.2):c.915G>A (p.A305=), TERT(NM_198253.3):c.915G>A (p.A305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1293971C>T" "" "benign" "" "0000313259" "0" "10" "5" "1280411" "1280411" "subst" "0.00242636" "02329" "TERT_000091" "g.1280411T>C" "" "" "" "TERT(NM_001193376.1):c.1812A>G (p.(Ala604=)), TERT(NM_198253.2):c.1812A>G (p.A604=), TERT(NM_198253.3):c.1812A>G (p.A604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1280296T>C" "" "benign" "" "0000313260" "0" "10" "5" "1280263" "1280263" "subst" "0.0130407" "02329" "TERT_000089" "g.1280263G>A" "" "" "" "TERT(NM_001193376.1):c.1950+10C>T (p.(=)), TERT(NM_198253.2):c.1950+10C>T, TERT(NM_198253.3):c.1950+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1280148G>A" "" "benign" "" "0000313261" "0" "10" "5" "1279505" "1279505" "subst" "0.0101134" "02329" "TERT_000087" "g.1279505G>A" "" "" "" "TERT(NM_001193376.1):c.2031C>T (p.(Gly677=)), TERT(NM_198253.3):c.2031C>T (p.G677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1279390G>A" "" "benign" "" "0000313262" "0" "10" "5" "1279439" "1279439" "subst" "0.0111739" "02329" "TERT_000086" "g.1279439G>A" "" "" "" "TERT(NM_001193376.1):c.2097C>T (p.(Ala699=)), TERT(NM_198253.2):c.2097C>T (p.A699=), TERT(NM_198253.3):c.2097C>T (p.A699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1279324G>A" "" "benign" "" "0000313263" "0" "30" "5" "1278821" "1278821" "subst" "3.65473E-5" "02329" "TERT_000083" "g.1278821C>T" "" "" "" "TERT(NM_198253.3):c.2221G>A (p.V741M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1278706C>T" "" "likely benign" "" "0000313264" "0" "30" "5" "1278745" "1278745" "subst" "5.69161E-5" "02329" "TERT_000082" "g.1278745G>A" "" "" "" "TERT(NM_198253.3):c.2286+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1278630G>A" "" "likely benign" "" "0000313265" "0" "30" "5" "1258784" "1258784" "subst" "0" "02329" "TERT_000077" "g.1258784C>A" "" "" "" "TERT(NM_198253.3):c.2971-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1258669C>A" "" "likely benign" "" "0000313266" "0" "30" "5" "1254639" "1254639" "subst" "0" "02329" "TERT_000076" "g.1254639T>G" "" "" "" "TERT(NM_198253.3):c.3158-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1254524T>G" "" "likely benign" "" "0000313267" "0" "10" "5" "1254594" "1254594" "subst" "0.0123467" "02329" "TERT_000012" "g.1254594C>T" "" "" "" "TERT(NM_001193376.1):c.2995G>A (p.(Ala999Thr)), TERT(NM_198253.2):c.3184G>A (p.A1062T), TERT(NM_198253.3):c.3184G>A (p.A1062T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1254479C>T" "" "benign" "" "0000313268" "0" "30" "5" "1254521" "1254521" "subst" "0.00013826" "02329" "TERT_000075" "g.1254521C>T" "" "" "" "TERT(NM_198253.3):c.3257G>A (p.R1086H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1254406C>T" "" "likely benign" "" "0000313269" "0" "10" "5" "1253918" "1253918" "subst" "0.0177873" "02329" "TERT_000074" "g.1253918C>T" "" "" "" "TERT(NM_001193376.1):c.3135G>A (p.(Pro1045=)), TERT(NM_198253.3):c.3324G>A (p.P1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1253803C>T" "" "benign" "" "0000313270" "0" "30" "5" "1253844" "1253844" "subst" "0" "02329" "TERT_000073" "g.1253844C>T" "" "" "" "TERT(NM_198253.3):c.3398G>A (p.*1133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1253729C>T" "" "likely benign" "" "0000313271" "0" "50" "5" "1294397" "1294397" "subst" "0.000295377" "02329" "TERT_000003" "g.1294397C>T" "" "" "" "TERT(NM_001193376.1):c.604G>A (p.(Ala202Thr)), TERT(NM_198253.2):c.604G>A (p.A202T), TERT(NM_198253.3):c.604G>A (p.A202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294282C>T" "" "VUS" "" "0000313272" "0" "30" "5" "1294191" "1294191" "subst" "2.46548E-5" "02329" "TERT_000099" "g.1294191G>A" "" "" "" "TERT(NM_001193376.1):c.810C>T (p.(Phe270=)), TERT(NM_198253.3):c.810C>T (p.F270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294076G>A" "" "likely benign" "" "0000313273" "0" "10" "5" "1294166" "1294166" "subst" "0.0226425" "02329" "TERT_000061" "g.1294166C>T" "" "" "" "TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294051C>T" "" "benign" "" "0000313274" "0" "30" "5" "1294163" "1294163" "subst" "0.000285369" "02329" "TERT_000098" "g.1294163C>T" "" "" "" "TERT(NM_198253.3):c.838G>A (p.E280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294048C>T" "" "likely benign" "" "0000314494" "0" "10" "5" "1282746" "1282746" "subst" "0.00103494" "02326" "TERT_000094" "g.1282746C>T" "" "" "" "TERT(NM_198253.2):c.1574-7G>A, TERT(NM_198253.3):c.1574-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1282631C>T" "" "benign" "" "0000314495" "0" "10" "5" "1280263" "1280263" "subst" "0.0130407" "02326" "TERT_000089" "g.1280263G>A" "" "" "" "TERT(NM_001193376.1):c.1950+10C>T (p.(=)), TERT(NM_198253.2):c.1950+10C>T, TERT(NM_198253.3):c.1950+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1280148G>A" "" "benign" "" "0000314496" "0" "10" "5" "1280258" "1280258" "subst" "0.000707766" "02326" "TERT_000088" "g.1280258C>T" "" "" "" "TERT(NM_198253.2):c.1950+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1280143C>T" "" "benign" "" "0000314497" "0" "10" "5" "1254594" "1254594" "subst" "0.0123467" "02326" "TERT_000012" "g.1254594C>T" "" "" "" "TERT(NM_001193376.1):c.2995G>A (p.(Ala999Thr)), TERT(NM_198253.2):c.3184G>A (p.A1062T), TERT(NM_198253.3):c.3184G>A (p.A1062T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1254479C>T" "" "benign" "" "0000314498" "0" "50" "5" "1294606" "1294606" "subst" "0" "02326" "TERT_000102" "g.1294606C>T" "" "" "" "TERT(NM_198253.2):c.395G>A (p.R132Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294491C>T" "" "VUS" "" "0000314499" "0" "10" "5" "1294166" "1294166" "subst" "0.0226425" "02326" "TERT_000061" "g.1294166C>T" "" "" "" "TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294051C>T" "" "benign" "" "0000316465" "0" "30" "5" "1293863" "1293863" "subst" "0.000758735" "01943" "TERT_000096" "g.1293863G>A" "" "" "" "TERT(NM_198253.2):c.1138C>T (p.P380S), TERT(NM_198253.3):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1293748G>A" "" "likely benign" "" "0000316466" "0" "30" "5" "1280460" "1280460" "subst" "2.04614E-5" "01943" "TERT_000092" "g.1280460T>C" "" "" "" "TERT(NM_198253.2):c.1770-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1280345T>C" "" "likely benign" "" "0000316467" "0" "30" "5" "1280374" "1280374" "subst" "0.00127975" "01943" "TERT_000090" "g.1280374G>A" "" "" "" "TERT(NM_198253.2):c.1849C>T (p.L617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1280259G>A" "" "likely benign" "" "0000316468" "0" "30" "5" "1294879" "1294879" "subst" "0.000319972" "01943" "TERT_000103" "g.1294879G>A" "" "" "" "TERT(NM_001193376.1):c.219+7C>T (p.(=)), TERT(NM_198253.2):c.219+7C>T, TERT(NM_198253.3):c.219+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294764G>A" "" "likely benign" "" "0000316469" "0" "70" "5" "1266595" "1266595" "subst" "0" "01943" "TERT_000080" "g.1266595C>T" "" "" "" "TERT(NM_198253.2):c.2638G>A (p.A880T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1266480C>T" "" "likely pathogenic" "" "0000316470" "0" "30" "5" "1266593" "1266593" "subst" "2.52791E-5" "01943" "TERT_000079" "g.1266593C>T" "" "" "" "TERT(NM_198253.2):c.2640G>A (p.A880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1266478C>T" "" "likely benign" "" "0000316471" "0" "50" "5" "1264673" "1264673" "subst" "1.21884E-5" "01943" "TERT_000078" "g.1264673C>T" "" "" "" "TERT(NM_198253.2):c.2689G>A (p.V897M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1264558C>T" "" "VUS" "" "0000316472" "0" "50" "5" "1294532" "1294532" "subst" "0" "01943" "TERT_000101" "g.1294532C>T" "" "" "" "TERT(NM_198253.2):c.469G>A (p.A157T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294417C>T" "" "VUS" "" "0000316473" "0" "50" "5" "1295028" "1295028" "subst" "0" "01943" "TERT_000104" "g.1295028G>A" "" "" "" "TERT(NM_198253.2):c.77C>T (p.T26M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294913G>A" "" "VUS" "" "0000339347" "0" "10" "5" "1253918" "1253918" "subst" "0.0177873" "02327" "TERT_000074" "g.1253918C>T" "" "" "" "TERT(NM_001193376.1):c.3135G>A (p.(Pro1045=)), TERT(NM_198253.3):c.3324G>A (p.P1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1253803C>T" "" "benign" "" "0000339348" "0" "30" "5" "1255454" "1255454" "subst" "0.0021011" "02327" "TERT_000105" "g.1255454G>A" "" "" "" "TERT(NM_001193376.1):c.2916C>T (p.(Val972=)), TERT(NM_198253.2):c.3105C>T (p.V1035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1255339G>A" "" "likely benign" "" "0000339349" "0" "10" "5" "1255520" "1255520" "subst" "0.130089" "02327" "TERT_000106" "g.1255520G>A" "" "" "" "TERT(NM_198253.2):c.3039C>T (p.H1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1255405G>A" "" "benign" "" "0000339361" "0" "10" "5" "1279439" "1279439" "subst" "0.0111739" "02327" "TERT_000086" "g.1279439G>A" "" "" "" "TERT(NM_001193376.1):c.2097C>T (p.(Ala699=)), TERT(NM_198253.2):c.2097C>T (p.A699=), TERT(NM_198253.3):c.2097C>T (p.A699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1279324G>A" "" "benign" "" "0000339362" "0" "10" "5" "1279505" "1279505" "subst" "0.0101134" "02327" "TERT_000087" "g.1279505G>A" "" "" "" "TERT(NM_001193376.1):c.2031C>T (p.(Gly677=)), TERT(NM_198253.3):c.2031C>T (p.G677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1279390G>A" "" "benign" "" "0000340641" "0" "10" "5" "1294086" "1294086" "subst" "0.287761" "02327" "TERT_000097" "g.1294086C>T" "" "" "" "TERT(NM_198253.2):c.915G>A (p.A305=), TERT(NM_198253.3):c.915G>A (p.A305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1293971C>T" "" "benign" "" "0000341103" "0" "10" "5" "1254594" "1254594" "subst" "0.0123467" "02327" "TERT_000012" "g.1254594C>T" "" "" "" "TERT(NM_001193376.1):c.2995G>A (p.(Ala999Thr)), TERT(NM_198253.2):c.3184G>A (p.A1062T), TERT(NM_198253.3):c.3184G>A (p.A1062T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1254479C>T" "" "benign" "" "0000341335" "0" "10" "5" "1294166" "1294166" "subst" "0.0226425" "02327" "TERT_000061" "g.1294166C>T" "" "" "" "TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294051C>T" "" "benign" "" "0000341565" "0" "90" "5" "1278895" "1278895" "subst" "0" "02327" "TERT_000042" "g.1278895G>A" "" "" "" "TERT(NM_198253.2):c.2147C>T (p.A716V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1278780G>A" "" "pathogenic" "" "0000341578" "0" "50" "5" "1278791" "1278791" "subst" "1.62455E-5" "02327" "TERT_000107" "g.1278791C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1278676C>T" "" "VUS" "" "0000341855" "0" "50" "5" "1294606" "1294606" "subst" "0" "02327" "TERT_000102" "g.1294606C>T" "" "" "" "TERT(NM_198253.2):c.395G>A (p.R132Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294491C>T" "" "VUS" "" "0000343183" "0" "70" "5" "1280359" "1280359" "subst" "0" "02327" "TERT_000109" "g.1280359G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1280244G>A" "" "likely pathogenic" "" "0000344808" "0" "30" "5" "1293850" "1293850" "subst" "0" "02327" "TERT_000112" "g.1293850T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1293735T>A" "" "likely benign" "" "0000344914" "0" "30" "5" "1280399" "1280399" "subst" "8.93953E-5" "02327" "TERT_000110" "g.1280399C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1280284C>A" "" "likely benign" "" "0000346469" "0" "30" "5" "1293767" "1293767" "subst" "0.0032474" "02327" "TERT_000057" "g.1293767G>A" "" "" "" "TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1293652G>A" "" "likely benign" "" "0000348090" "0" "50" "5" "1279412" "1279412" "subst" "0" "02327" "TERT_000108" "g.1279412A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1279297A>C" "" "VUS" "" "0000349617" "0" "50" "5" "1278865" "1278865" "subst" "4.06078E-5" "02327" "TERT_000038" "g.1278865G>A" "" "" "" "TERT(NM_198253.3):c.2177C>T (p.(Thr726Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1278750G>A" "" "VUS" "" "0000350255" "0" "70" "5" "1294646" "1294646" "subst" "0" "02327" "TERT_000113" "g.1294646C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294531C>T" "" "likely pathogenic" "" "0000350678" "0" "30" "5" "1294751" "1294751" "subst" "0" "02327" "TERT_000114" "g.1294751C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1294636C>T" "" "likely benign" "" "0000523929" "0" "30" "5" "1254614" "1254614" "subst" "0.00010374" "01943" "TERT_000115" "g.1254614G>A" "" "" "" "TERT(NM_198253.2):c.3164C>T (p.S1055L), TERT(NM_198253.3):c.3164C>T (p.(Ser1055Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1254499G>A" "" "likely benign" "" "0000523930" "0" "90" "5" "1255411" "1255411" "subst" "0" "02327" "TERT_000013" "g.1255411T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1255296T>C" "" "pathogenic" "" "0000523931" "0" "30" "5" "1258754" "1258754" "subst" "0.000241733" "01943" "TERT_000116" "g.1258754C>T" "" "" "" "TERT(NM_198253.2):c.2991G>A (p.V997=), TERT(NM_198253.3):c.2991G>A (p.V997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1258639C>T" "" "likely benign" "" "0000523955" "0" "30" "5" "1260582" "1260582" "subst" "0" "01943" "TERT_000117" "g.1260582T>C" "" "" "" "TERT(NM_198253.2):c.2970+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1260467T>C" "" "likely benign" "" "0000523956" "0" "30" "5" "1260582" "1260582" "subst" "0" "02326" "TERT_000117" "g.1260582T>C" "" "" "" "TERT(NM_198253.2):c.2970+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1260467T>C" "" "likely benign" "" "0000523966" "0" "50" "5" "1264550" "1264550" "subst" "0" "02327" "TERT_000119" "g.1264550G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1264435G>A" "" "VUS" "" "0000523967" "0" "10" "5" "1264587" "1264587" "subst" "0.00107748" "02325" "TERT_000120" "g.1264587G>A" "" "" "" "TERT(NM_198253.2):c.2775C>T (p.H925=, p.(His925=)), TERT(NM_198253.3):c.2775C>T (p.H925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1264472G>A" "" "benign" "" "0000523968" "0" "30" "5" "1264641" "1264641" "subst" "0" "01943" "TERT_000121" "g.1264641G>A" "" "" "" "TERT(NM_198253.2):c.2721C>T (p.F907=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1264526G>A" "" "likely benign" "" "0000523969" "0" "30" "5" "1264701" "1264701" "subst" "0" "01943" "TERT_000122" "g.1264701C>A" "" "" "" "TERT(NM_198253.2):c.2661G>T (p.L887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1264586C>A" "" "likely benign" "" "0000523970" "0" "30" "5" "1266569" "1266569" "subst" "5.23359E-5" "01943" "TERT_000123" "g.1266569C>T" "" "" "" "TERT(NM_198253.2):c.2654+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1266454C>T" "" "likely benign" "" "0000523976" "0" "30" "5" "1268700" "1268700" "subst" "0.00288895" "01943" "TERT_000124" "g.1268700C>T" "" "" "" "TERT(NM_198253.2):c.2517G>A (p.T839=), TERT(NM_198253.3):c.2517G>A (p.T839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1268585C>T" "" "likely benign" "" "0000523977" "0" "30" "5" "1268700" "1268700" "subst" "0.00288895" "02326" "TERT_000124" "g.1268700C>T" "" "" "" "TERT(NM_198253.2):c.2517G>A (p.T839=), TERT(NM_198253.3):c.2517G>A (p.T839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1268585C>T" "" "likely benign" "" "0000523978" "0" "50" "5" "1272305" "1272305" "subst" "0" "01943" "TERT_000125" "g.1272305C>T" "" "" "" "TERT(NM_198253.2):c.2377G>A (p.E793K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1272190C>T" "" "VUS" "" "0000523979" "0" "70" "5" "1272305" "1272305" "subst" "0" "02327" "TERT_000125" "g.1272305C>T" "" "" "" "TERT(NM_198253.2):c.2377G>A (p.E793K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1272190C>T" "" "likely pathogenic" "" "0000523980" "0" "70" "5" "1272370" "1272370" "subst" "0" "02327" "TERT_000126" "g.1272370G>A" "" "" "" "TERT(NM_198253.2):c.2312C>T (p.P771L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1272255G>A" "" "likely pathogenic" "" "0000524101" "0" "30" "5" "1278786" "1278786" "subst" "4.87349E-5" "02326" "TERT_000127" "g.1278786A>G" "" "" "" "TERT(NM_198253.2):c.2256T>C (p.H752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1278671A>G" "" "likely benign" "" "0000524102" "0" "30" "5" "1278837" "1278837" "subst" "1.21821E-5" "01943" "TERT_000128" "g.1278837G>T" "" "" "" "TERT(NM_198253.2):c.2205C>A (p.P735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1278722G>T" "" "likely benign" "" "0000524103" "0" "30" "5" "1279430" "1279430" "subst" "0.000491515" "01943" "TERT_000085" "g.1279430C>T" "" "" "" "TERT(NM_001193376.1):c.2106G>A (p.(Pro702=)), TERT(NM_198253.2):c.2106G>A (p.P702=), TERT(NM_198253.3):c.2106G>A (p.P702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279315C>T" "" "likely benign" "" "0000524104" "0" "30" "5" "1279430" "1279430" "subst" "0.000491515" "02327" "TERT_000085" "g.1279430C>T" "" "" "" "TERT(NM_001193376.1):c.2106G>A (p.(Pro702=)), TERT(NM_198253.2):c.2106G>A (p.P702=), TERT(NM_198253.3):c.2106G>A (p.P702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279315C>T" "" "likely benign" "" "0000524105" "0" "30" "5" "1279430" "1279430" "subst" "0.000491515" "02326" "TERT_000085" "g.1279430C>T" "" "" "" "TERT(NM_001193376.1):c.2106G>A (p.(Pro702=)), TERT(NM_198253.2):c.2106G>A (p.P702=), TERT(NM_198253.3):c.2106G>A (p.P702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279315C>T" "" "likely benign" "" "0000524106" "0" "50" "5" "1279520" "1279520" "del" "0" "01943" "TERT_000129" "g.1279520del" "" "" "" "TERT(NM_198253.2):c.2019delC (p.G674Afs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279405del" "" "VUS" "" "0000524107" "0" "30" "5" "1279590" "1279590" "subst" "0" "02329" "TERT_000130" "g.1279590C>T" "" "" "" "TERT(NM_198253.3):c.1951-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279475C>T" "" "likely benign" "" "0000524109" "0" "30" "5" "1280411" "1280411" "subst" "0.00242636" "01943" "TERT_000091" "g.1280411T>C" "" "" "" "TERT(NM_001193376.1):c.1812A>G (p.(Ala604=)), TERT(NM_198253.2):c.1812A>G (p.A604=), TERT(NM_198253.3):c.1812A>G (p.A604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1280296T>C" "" "likely benign" "" "0000524110" "0" "30" "5" "1280411" "1280411" "subst" "0.00242636" "02327" "TERT_000091" "g.1280411T>C" "" "" "" "TERT(NM_001193376.1):c.1812A>G (p.(Ala604=)), TERT(NM_198253.2):c.1812A>G (p.A604=), TERT(NM_198253.3):c.1812A>G (p.A604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1280296T>C" "" "likely benign" "" "0000524111" "0" "30" "5" "1282755" "1282755" "subst" "0.00243009" "02326" "TERT_000095" "g.1282755C>G" "" "" "" "TERT(NM_198253.2):c.1574-16G>C, TERT(NM_198253.3):c.1574-16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1282640C>G" "" "likely benign" "" "0000524112" "0" "30" "5" "1293609" "1293609" "subst" "0.00118646" "01943" "TERT_000131" "g.1293609G>A" "" "" "" "TERT(NM_198253.2):c.1392C>T (p.F464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293494G>A" "" "likely benign" "" "0000524113" "0" "30" "5" "1293609" "1293609" "subst" "0.00118646" "02326" "TERT_000131" "g.1293609G>A" "" "" "" "TERT(NM_198253.2):c.1392C>T (p.F464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293494G>A" "" "likely benign" "" "0000524114" "0" "30" "5" "1293684" "1293686" "del" "0" "01943" "TERT_000132" "g.1293684_1293686del" "" "" "" "TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293569_1293571del" "" "likely benign" "" "0000524115" "0" "30" "5" "1293684" "1293686" "del" "0" "01804" "TERT_000132" "g.1293684_1293686del" "" "" "" "TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293569_1293571del" "" "likely benign" "" "0000524116" "0" "50" "5" "1293684" "1293686" "del" "0" "02325" "TERT_000132" "g.1293684_1293686del" "" "" "" "TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293569_1293571del" "" "VUS" "" "0000524117" "0" "30" "5" "1293684" "1293686" "del" "0" "02329" "TERT_000132" "g.1293684_1293686del" "" "" "" "TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293569_1293571del" "" "likely benign" "" "0000524118" "0" "30" "5" "1293767" "1293767" "subst" "0.0032474" "01943" "TERT_000057" "g.1293767G>A" "" "" "" "TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293652G>A" "" "likely benign" "" "0000524119" "0" "30" "5" "1293767" "1293767" "subst" "0.0032474" "02325" "TERT_000057" "g.1293767G>A" "" "" "" "TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293652G>A" "" "likely benign" "" "0000524120" "0" "10" "5" "1293767" "1293767" "subst" "0.0032474" "02329" "TERT_000057" "g.1293767G>A" "" "" "" "TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293652G>A" "" "benign" "" "0000524121" "0" "30" "5" "1293801" "1293801" "subst" "0" "01943" "TERT_000133" "g.1293801G>A" "" "" "" "TERT(NM_198253.2):c.1200C>T (p.H400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293686G>A" "" "likely benign" "" "0000524122" "0" "30" "5" "1293863" "1293863" "subst" "0.000758735" "02326" "TERT_000096" "g.1293863G>A" "" "" "" "TERT(NM_198253.2):c.1138C>T (p.P380S), TERT(NM_198253.3):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293748G>A" "" "likely benign" "" "0000524123" "0" "30" "5" "1293871" "1293871" "subst" "0" "01943" "TERT_000134" "g.1293871C>T" "" "" "" "TERT(NM_198253.2):c.1130G>A (p.R377H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293756C>T" "" "likely benign" "" "0000524124" "0" "30" "5" "1294052" "1294052" "subst" "0" "01943" "TERT_000135" "g.1294052A>G" "" "" "" "TERT(NM_198253.2):c.949T>C (p.W317R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293937A>G" "" "likely benign" "" "0000524125" "0" "10" "5" "1294166" "1294166" "subst" "0.0226425" "01804" "TERT_000061" "g.1294166C>T" "" "" "" "TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1294051C>T" "" "benign" "" "0000524126" "0" "30" "5" "1294356" "1294356" "subst" "0.000131451" "01943" "TERT_000100" "g.1294356G>A" "" "" "" "TERT(NM_198253.2):c.645C>T (p.G215=), TERT(NM_198253.3):c.645C>T (p.G215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1294241G>A" "" "likely benign" "" "0000524127" "0" "50" "5" "1294397" "1294397" "subst" "0.000295377" "01943" "TERT_000003" "g.1294397C>T" "" "" "" "TERT(NM_001193376.1):c.604G>A (p.(Ala202Thr)), TERT(NM_198253.2):c.604G>A (p.A202T), TERT(NM_198253.3):c.604G>A (p.A202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1294282C>T" "" "VUS" "" "0000524128" "0" "30" "5" "1294467" "1294467" "subst" "0.000301969" "02326" "TERT_000136" "g.1294467G>A" "" "" "" "TERT(NM_198253.2):c.534C>T (p.L178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1294352G>A" "" "likely benign" "" "0000524129" "0" "50" "5" "1294598" "1294598" "subst" "7.90592E-5" "02327" "TERT_000137" "g.1294598C>T" "" "" "" "TERT(NM_198253.3):c.403G>A (p.(Gly135Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1294483C>T" "" "VUS" "" "0000524130" "0" "30" "5" "1294658" "1294658" "subst" "0" "01943" "TERT_000138" "g.1294658A>C" "" "" "" "TERT(NM_198253.2):c.343T>G (p.F115V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1294543A>C" "" "likely benign" "" "0000524131" "0" "30" "5" "1294671" "1294671" "subst" "5.48998E-6" "02329" "TERT_000139" "g.1294671G>T" "" "" "" "TERT(NM_198253.3):c.330C>A (p.G110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1294556G>T" "" "likely benign" "" "0000524132" "0" "30" "5" "1295029" "1295029" "subst" "0" "01804" "TERT_000140" "g.1295029T>C" "" "" "" "TERT(NM_001193376.1):c.76A>G (p.(Thr26Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1294914T>C" "" "likely benign" "" "0000579831" "0" "50" "5" "1254521" "1254521" "subst" "0.00013826" "01164" "TERT_000075" "g.1254521C>T" "" "" "" "" "ACMG grading: PP2" "Germline" "" "rs200288187" "0" "" "" "g.1254406C>T" "" "VUS" "ACMG" "0000609415" "0" "10" "5" "1254594" "1254594" "subst" "0.0123467" "01943" "TERT_000012" "g.1254594C>T" "" "" "" "TERT(NM_001193376.1):c.2995G>A (p.(Ala999Thr)), TERT(NM_198253.2):c.3184G>A (p.A1062T), TERT(NM_198253.3):c.3184G>A (p.A1062T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1254479C>T" "" "benign" "" "0000609416" "0" "30" "5" "1254594" "1254594" "subst" "0.0123467" "01804" "TERT_000012" "g.1254594C>T" "" "" "" "TERT(NM_001193376.1):c.2995G>A (p.(Ala999Thr)), TERT(NM_198253.2):c.3184G>A (p.A1062T), TERT(NM_198253.3):c.3184G>A (p.A1062T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1254479C>T" "" "likely benign" "" "0000609455" "0" "30" "5" "1278807" "1278807" "subst" "3.24863E-5" "01943" "TERT_000145" "g.1278807G>A" "" "" "" "TERT(NM_198253.2):c.2235C>T (p.A745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1278692G>A" "" "likely benign" "" "0000609456" "0" "10" "5" "1279439" "1279439" "subst" "0.0111739" "01943" "TERT_000086" "g.1279439G>A" "" "" "" "TERT(NM_001193376.1):c.2097C>T (p.(Ala699=)), TERT(NM_198253.2):c.2097C>T (p.A699=), TERT(NM_198253.3):c.2097C>T (p.A699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279324G>A" "" "benign" "" "0000609457" "0" "10" "5" "1279505" "1279505" "subst" "0.0101134" "01804" "TERT_000087" "g.1279505G>A" "" "" "" "TERT(NM_001193376.1):c.2031C>T (p.(Gly677=)), TERT(NM_198253.3):c.2031C>T (p.G677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279390G>A" "" "benign" "" "0000621457" "0" "30" "5" "1268709" "1268709" "subst" "0" "02326" "TERT_000141" "g.1268709G>A" "" "" "" "TERT(NM_198253.2):c.2508C>T (p.I836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1268594G>A" "" "likely benign" "" "0000621459" "0" "30" "5" "1272270" "1272270" "subst" "0.00056308" "01943" "TERT_000143" "g.1272270G>A" "" "" "" "TERT(NM_198253.2):c.2382+30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1272155G>A" "" "likely benign" "" "0000621464" "0" "70" "5" "1278895" "1278895" "subst" "0" "01943" "TERT_000042" "g.1278895G>A" "" "" "" "TERT(NM_198253.2):c.2147C>T (p.A716V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1278780G>A" "" "likely pathogenic" "" "0000621465" "0" "30" "5" "1279484" "1279484" "subst" "0" "01943" "TERT_000146" "g.1279484G>A" "" "" "" "TERT(NM_198253.2):c.2052C>T (p.D684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279369G>A" "" "likely benign" "" "0000651578" "1" "30" "5" "1280263" "1280263" "subst" "0.0130407" "03575" "TERT_000089" "g.1280263G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs33948291}" "Germline" "" "rs33948291" "0" "" "" "g.1280148G>A" "" "likely benign" "" "0000651579" "1" "30" "5" "1293767" "1293767" "subst" "0.0032474" "03575" "TERT_000057" "g.1293767G>A" "3/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs34094720}" "Germline" "" "rs34094720" "0" "" "" "g.1293652G>A" "" "likely benign" "" "0000651580" "1" "10" "5" "1294166" "1294166" "subst" "0.0226425" "03575" "TERT_000061" "g.1294166C>T" "67/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "67 heterozygous; {DB:CLININrs61748181}" "Germline" "" "rs61748181" "0" "" "" "g.1294051C>T" "" "benign" "" "0000653507" "0" "50" "5" "1293767" "1293767" "subst" "0.0032474" "03583" "TERT_000057" "g.1293767G>A" "" "{PMID:Juge 2017:28495692}" "" "" "" "Germline/De novo (untested)" "?" "rs34094720" "0" "" "" "g.1293652G>A" "" "VUS" "" "0000655250" "0" "50" "5" "1253892" "1253892" "subst" "0" "02327" "TERT_000148" "g.1253892G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1253777G>C" "" "VUS" "" "0000655251" "0" "50" "5" "1258755" "1258755" "subst" "0" "02327" "TERT_000149" "g.1258755A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1258640A>C" "" "VUS" "" "0000655255" "0" "30" "5" "1272403" "1272403" "subst" "2.12435E-5" "01943" "TERT_000150" "g.1272403C>T" "" "" "" "TERT(NM_198253.2):c.2287-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1272288C>T" "" "likely benign" "" "0000655270" "0" "30" "5" "1279430" "1279430" "subst" "0.000491515" "01804" "TERT_000085" "g.1279430C>T" "" "" "" "TERT(NM_001193376.1):c.2106G>A (p.(Pro702=)), TERT(NM_198253.2):c.2106G>A (p.P702=), TERT(NM_198253.3):c.2106G>A (p.P702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279315C>T" "" "likely benign" "" "0000655271" "0" "30" "5" "1279437" "1279437" "subst" "0" "02326" "TERT_000151" "g.1279437T>C" "" "" "" "TERT(NM_198253.2):c.2099A>G (p.Q700R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1279322T>C" "" "likely benign" "" "0000655272" "0" "30" "5" "1280286" "1280286" "subst" "1.21872E-5" "02326" "TERT_000152" "g.1280286C>T" "" "" "" "TERT(NM_198253.2):c.1937G>A (p.R646H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1280171C>T" "" "likely benign" "" "0000655273" "0" "30" "5" "1293767" "1293767" "subst" "0.0032474" "02326" "TERT_000057" "g.1293767G>A" "" "" "" "TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1293652G>A" "" "likely benign" "" "0000669824" "3" "10" "5" "1294166" "1294166" "subst" "0.0226425" "03575" "TERT_000061" "g.1294166C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs61748181}" "Germline" "" "rs61748181" "0" "" "" "g.1294051C>T" "" "benign" "" "0000677363" "0" "30" "5" "1255454" "1255454" "subst" "0.0021011" "02326" "TERT_000105" "g.1255454G>A" "" "" "" "TERT(NM_001193376.1):c.2916C>T (p.(Val972=)), TERT(NM_198253.2):c.3105C>T (p.V1035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677367" "0" "50" "5" "1272379" "1272379" "subst" "0" "02327" "TERT_000144" "g.1272379T>A" "" "" "" "TERT(NM_198253.3):c.2303A>T (p.D768V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677382" "0" "30" "5" "1293684" "1293686" "del" "0" "02326" "TERT_000056" "g.1293684_1293686del" "" "" "" "TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677383" "0" "30" "5" "1294082" "1294082" "subst" "0" "01943" "TERT_000153" "g.1294082G>T" "" "" "" "TERT(NM_198253.2):c.919C>A (p.P307T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677384" "0" "50" "5" "1294397" "1294397" "subst" "0.000295377" "01804" "TERT_000003" "g.1294397C>T" "" "" "" "TERT(NM_001193376.1):c.604G>A (p.(Ala202Thr)), TERT(NM_198253.2):c.604G>A (p.A202T), TERT(NM_198253.3):c.604G>A (p.A202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684751" "0" "10" "5" "1293863" "1293863" "subst" "0.000758735" "00004" "TERT_000096" "g.1293863G>A" "frequency 0.035" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.1293748G>A" "" "benign" "" "0000689399" "0" "10" "5" "1253918" "1253918" "subst" "0.0177873" "01804" "TERT_000074" "g.1253918C>T" "" "" "" "TERT(NM_001193376.1):c.3135G>A (p.(Pro1045=)), TERT(NM_198253.3):c.3324G>A (p.P1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689400" "0" "30" "5" "1254526" "1254526" "subst" "1.62641E-5" "02326" "TERT_000154" "g.1254526T>C" "" "" "" "TERT(NM_198253.2):c.3252A>G (p.R1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689401" "0" "30" "5" "1255454" "1255454" "subst" "0.0021011" "01943" "TERT_000105" "g.1255454G>A" "" "" "" "TERT(NM_001193376.1):c.2916C>T (p.(Val972=)), TERT(NM_198253.2):c.3105C>T (p.V1035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689406" "0" "30" "5" "1272354" "1272354" "subst" "2.45262E-5" "01804" "TERT_000155" "g.1272354G>A" "" "" "" "TERT(NM_001193376.1):c.2328C>T (p.(=)), TERT(NM_198253.2):c.2328C>T (p.F776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720106" "0" "50" "5" "1254579" "1254579" "subst" "0" "01943" "TERT_000156" "g.1254579A>C" "" "" "" "TERT(NM_198253.2):c.3199T>G (p.S1067A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720116" "0" "50" "5" "1264513" "1264513" "subst" "4.63579E-5" "01943" "TERT_000157" "g.1264513G>A" "" "" "" "TERT(NM_198253.2):c.2843+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720117" "0" "30" "5" "1266590" "1266590" "subst" "2.95239E-5" "01943" "TERT_000158" "g.1266590T>C" "" "" "" "TERT(NM_198253.2):c.2643A>G (p.K881=), TERT(NM_198253.3):c.2643A>G (p.K881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720119" "0" "50" "5" "1271291" "1271291" "subst" "0" "02329" "TERT_000142" "g.1271291C>T" "" "" "" "TERT(NM_198253.3):c.2411G>A (p.G804D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720120" "0" "30" "5" "1271334" "1271334" "subst" "0.000455961" "02325" "TERT_000159" "g.1271334G>A" "" "" "" "TERT(NM_198253.3):c.2383-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720121" "0" "70" "5" "1272370" "1272370" "subst" "0" "01943" "TERT_000126" "g.1272370G>A" "" "" "" "TERT(NM_198253.2):c.2312C>T (p.P771L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720122" "0" "30" "5" "1272375" "1272375" "subst" "8.22497E-6" "01943" "TERT_000160" "g.1272375G>A" "" "" "" "TERT(NM_198253.2):c.2307C>T (p.L769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720123" "0" "50" "5" "1272379" "1272379" "subst" "0" "02329" "TERT_000144" "g.1272379T>A" "" "" "" "TERT(NM_198253.3):c.2303A>T (p.D768V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720157" "0" "30" "5" "1294320" "1294320" "subst" "0" "01943" "TERT_000161" "g.1294320A>T" "" "" "" "TERT(NM_198253.2):c.681T>A (p.S227R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720158" "0" "50" "5" "1294397" "1294397" "subst" "0.000295377" "02325" "TERT_000003" "g.1294397C>T" "" "" "" "TERT(NM_001193376.1):c.604G>A (p.(Ala202Thr)), TERT(NM_198253.2):c.604G>A (p.A202T), TERT(NM_198253.3):c.604G>A (p.A202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720159" "0" "30" "5" "1294418" "1294418" "subst" "0" "02326" "TERT_000162" "g.1294418T>C" "" "" "" "TERT(NM_198253.2):c.583A>G (p.R195G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801838" "0" "30" "5" "1271284" "1271284" "subst" "3.66557E-5" "02326" "TERT_000163" "g.1271284G>A" "" "" "" "TERT(NM_198253.2):c.2418C>T (p.F806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801839" "0" "50" "5" "1272361" "1272361" "subst" "0" "01943" "TERT_000164" "g.1272361C>T" "" "" "" "TERT(NM_198253.2):c.2321G>A (p.R774Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801866" "0" "30" "5" "1280267" "1280267" "subst" "0" "01943" "TERT_000165" "g.1280267A>G" "" "" "" "TERT(NM_198253.2):c.1950+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801873" "0" "30" "5" "1294520" "1294520" "subst" "5.00952E-5" "01943" "TERT_000166" "g.1294520G>A" "" "" "" "TERT(NM_198253.2):c.481C>T (p.L161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850742" "0" "50" "5" "1272328" "1272328" "subst" "1.22796E-5" "01943" "TERT_000168" "g.1272328G>C" "" "" "" "TERT(NM_198253.2):c.2354C>G (p.P785R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850753" "0" "50" "5" "1279444" "1279444" "subst" "0" "02327" "TERT_000169" "g.1279444G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850754" "0" "10" "5" "1280263" "1280263" "subst" "0.0130407" "01804" "TERT_000089" "g.1280263G>A" "" "" "" "TERT(NM_001193376.1):c.1950+10C>T (p.(=)), TERT(NM_198253.2):c.1950+10C>T, TERT(NM_198253.3):c.1950+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850755" "0" "30" "5" "1280339" "1280339" "subst" "0.000231513" "02369" "TERT_000170" "g.1280339G>A" "" "" "" "TERT(NM_198253.2):c.1884C>T (p.D628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850756" "0" "30" "5" "1282720" "1282720" "subst" "3.66426E-5" "01943" "TERT_000171" "g.1282720G>A" "" "" "" "TERT(NM_198253.2):c.1593C>T (p.A531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850757" "0" "50" "5" "1294927" "1294927" "subst" "0" "02325" "TERT_000172" "g.1294927A>C" "" "" "" "TERT(NM_198253.3):c.178T>G (p.W60G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850758" "0" "30" "5" "1294976" "1294976" "subst" "0.000109976" "02326" "TERT_000173" "g.1294976G>A" "" "" "" "TERT(NM_198253.2):c.129C>T (p.D43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859717" "0" "30" "5" "1264587" "1264587" "subst" "0.00107748" "01943" "TERT_000120" "g.1264587G>A" "" "" "" "TERT(NM_198253.2):c.2775C>T (p.H925=, p.(His925=)), TERT(NM_198253.3):c.2775C>T (p.H925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859718" "0" "30" "5" "1266564" "1266564" "subst" "8.39245E-5" "02326" "TERT_000167" "g.1266564C>T" "" "" "" "TERT(NM_198253.2):c.2654+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859740" "0" "10" "5" "1279439" "1279439" "subst" "0.0111739" "01804" "TERT_000086" "g.1279439G>A" "" "" "" "TERT(NM_001193376.1):c.2097C>T (p.(Ala699=)), TERT(NM_198253.2):c.2097C>T (p.A699=), TERT(NM_198253.3):c.2097C>T (p.A699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859744" "0" "30" "5" "1294163" "1294163" "subst" "0.000285369" "02325" "TERT_000098" "g.1294163C>T" "" "" "" "TERT(NM_198253.3):c.838G>A (p.E280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859745" "0" "50" "5" "1295016" "1295016" "subst" "0" "02326" "TERT_000174" "g.1295016C>A" "" "" "" "TERT(NM_198253.2):c.89G>T (p.R30L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886554" "0" "30" "5" "1264587" "1264587" "subst" "0.00107748" "02326" "TERT_000120" "g.1264587G>A" "" "" "" "TERT(NM_198253.2):c.2775C>T (p.H925=, p.(His925=)), TERT(NM_198253.3):c.2775C>T (p.H925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886555" "0" "30" "5" "1264704" "1264704" "subst" "0.00018701" "02326" "TERT_000175" "g.1264704G>T" "" "" "" "TERT(NM_198253.2):c.2658C>A (p.T886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886557" "0" "30" "5" "1268618" "1268618" "subst" "0.000126939" "02326" "TERT_000081" "g.1268618G>A" "" "" "" "TERT(NM_198253.2):c.2582+17C>T, TERT(NM_198253.3):c.2582+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886558" "0" "50" "5" "1271291" "1271291" "subst" "0" "02325" "TERT_000176" "g.1271291C>A" "" "" "" "TERT(NM_198253.3):c.2411G>T (p.G804V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886559" "0" "30" "5" "1272354" "1272354" "subst" "2.45262E-5" "02326" "TERT_000155" "g.1272354G>A" "" "" "" "TERT(NM_001193376.1):c.2328C>T (p.(=)), TERT(NM_198253.2):c.2328C>T (p.F776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886584" "0" "50" "5" "1282650" "1282650" "subst" "0" "02329" "TERT_000177" "g.1282650C>G" "" "" "" "TERT(NM_198253.3):c.1663G>C (p.E555Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912195" "0" "50" "5" "1268743" "1268743" "subst" "0" "02327" "TERT_000178" "g.1268743T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912214" "0" "30" "5" "1278787" "1278787" "subst" "0.00014214" "02326" "TERT_000179" "g.1278787T>C" "" "" "" "TERT(NM_198253.2):c.2255A>G (p.H752R), TERT(NM_198253.3):c.2255A>G (p.(His752Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912215" "0" "90" "5" "1278896" "1278896" "subst" "0" "02325" "TERT_000043" "g.1278896C>T" "" "" "" "TERT(NM_198253.3):c.2146G>A (p.A716T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924211" "0" "30" "5" "1253951" "1253951" "subst" "5.28322E-5" "02329" "TERT_000180" "g.1253951G>A" "" "" "" "TERT(NM_198253.3):c.3296-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924212" "0" "30" "5" "1258754" "1258754" "subst" "0.000241733" "02326" "TERT_000116" "g.1258754C>T" "" "" "" "TERT(NM_198253.2):c.2991G>A (p.V997=), TERT(NM_198253.3):c.2991G>A (p.V997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924230" "0" "30" "5" "1278807" "1278807" "subst" "3.24863E-5" "02326" "TERT_000145" "g.1278807G>A" "" "" "" "TERT(NM_198253.2):c.2235C>T (p.A745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924231" "0" "30" "5" "1278927" "1278927" "subst" "0.000476074" "02326" "TERT_000181" "g.1278927C>T" "" "" "" "TERT(NM_001193376.1):c.2131-16G>A (p.(=)), TERT(NM_198253.2):c.2131-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924232" "0" "30" "5" "1294058" "1294058" "subst" "0" "02326" "TERT_000182" "g.1294058G>T" "" "" "" "TERT(NM_198253.2):c.943C>A (p.R315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924233" "0" "30" "5" "1294116" "1294116" "subst" "7.03829E-5" "02326" "TERT_000183" "g.1294116G>A" "" "" "" "TERT(NM_198253.2):c.885C>T (p.S295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927703" "0" "30" "5" "1254701" "1254701" "subst" "0" "03779" "TERT_000184" "g.1254701G>A" "" "" "" "" "" "Unknown" "" "rs952614541" "0" "" "" "" "" "likely benign" "" "0000929006" "0" "30" "5" "1280411" "1280411" "subst" "0.00242636" "01804" "TERT_000091" "g.1280411T>C" "" "" "" "TERT(NM_001193376.1):c.1812A>G (p.(Ala604=)), TERT(NM_198253.2):c.1812A>G (p.A604=), TERT(NM_198253.3):c.1812A>G (p.A604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929008" "0" "50" "5" "1293767" "1293767" "subst" "0.0032474" "01804" "TERT_000057" "g.1293767G>A" "" "" "" "TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929009" "0" "30" "5" "1294879" "1294879" "subst" "0.000319972" "02326" "TERT_000103" "g.1294879G>A" "" "" "" "TERT(NM_001193376.1):c.219+7C>T (p.(=)), TERT(NM_198253.2):c.219+7C>T, TERT(NM_198253.3):c.219+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948436" "0" "30" "5" "1255454" "1255454" "subst" "0.0021011" "01804" "TERT_000105" "g.1255454G>A" "" "" "" "TERT(NM_001193376.1):c.2916C>T (p.(Val972=)), TERT(NM_198253.2):c.3105C>T (p.V1035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948437" "0" "30" "5" "1258754" "1258754" "subst" "0.000241733" "02329" "TERT_000116" "g.1258754C>T" "" "" "" "TERT(NM_198253.2):c.2991G>A (p.V997=), TERT(NM_198253.3):c.2991G>A (p.V997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948440" "0" "30" "5" "1268700" "1268700" "subst" "0.00288895" "02329" "TERT_000124" "g.1268700C>T" "" "" "" "TERT(NM_198253.2):c.2517G>A (p.T839=), TERT(NM_198253.3):c.2517G>A (p.T839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948465" "0" "30" "5" "1278888" "1278888" "subst" "8.12315E-6" "02326" "TERT_000185" "g.1278888G>A" "" "" "" "TERT(NM_198253.2):c.2154C>T (p.D718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948466" "0" "30" "5" "1279386" "1279386" "subst" "0" "01804" "TERT_000186" "g.1279386C>T" "" "" "" "TERT(NM_001193376.1):c.2130+20G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948467" "0" "50" "5" "1282729" "1282729" "subst" "0" "01804" "TERT_000093" "g.1282729A>C" "" "" "" "TERT(NM_001193376.1):c.1584T>G (p.(Cys528Trp)), TERT(NM_198253.2):c.1584T>G (p.C528W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948468" "0" "10" "5" "1286516" "1286516" "subst" "0" "02327" "TERT_000187" "g.1286516C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948469" "0" "30" "5" "1294879" "1294879" "subst" "0.000319972" "01804" "TERT_000103" "g.1294879G>A" "" "" "" "TERT(NM_001193376.1):c.219+7C>T (p.(=)), TERT(NM_198253.2):c.219+7C>T, TERT(NM_198253.3):c.219+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959998" "0" "30" "5" "1279427" "1279427" "subst" "0" "03779" "TERT_000188" "g.1279427C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000963386" "0" "50" "5" "1255540" "1255540" "subst" "6.51036E-5" "01804" "TERT_000189" "g.1255540G>A" "" "" "" "TERT(NM_001193376.1):c.2844-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963425" "0" "30" "5" "1279612" "1279612" "subst" "0.000716908" "02329" "TERT_000192" "g.1279612C>T" "" "" "" "TERT(NM_198253.3):c.1951-27G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971523" "0" "70" "5" "1266609" "1266613" "delins" "0" "03779" "TERT_000191" "g.1266609_1266613delinsCCTCA" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000971524" "0" "70" "5" "1264601" "1264601" "subst" "0" "03779" "TERT_000190" "g.1264601G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000976485" "0" "50" "5" "1254614" "1254614" "subst" "0.00010374" "01804" "TERT_000115" "g.1254614G>A" "" "" "" "TERT(NM_198253.2):c.3164C>T (p.S1055L), TERT(NM_198253.3):c.3164C>T (p.(Ser1055Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976486" "0" "30" "5" "1255538" "1255538" "subst" "1.62717E-5" "01804" "TERT_000193" "g.1255538G>A" "" "" "" "TERT(NM_001193376.1):c.2844-12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994587" "0" "30" "5" "1264512" "1264512" "subst" "6.34781E-5" "01804" "TERT_000194" "g.1264512C>T" "" "" "" "TERT(NM_198253.2):c.2843+7G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994588" "0" "30" "5" "1264587" "1264587" "subst" "0.00107748" "01804" "TERT_000120" "g.1264587G>A" "" "" "" "TERT(NM_198253.2):c.2775C>T (p.H925=, p.(His925=)), TERT(NM_198253.3):c.2775C>T (p.H925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994636" "0" "50" "5" "1279531" "1279531" "subst" "0" "01804" "TERT_000195" "g.1279531G>A" "" "" "" "TERT(NM_001193376.1):c.2005C>T (p.(Arg669Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994637" "0" "30" "5" "1280380" "1280380" "subst" "1.21871E-5" "01804" "TERT_000196" "g.1280380C>T" "" "" "" "TERT(NM_198253.2):c.1843G>A (p.(Ala615Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994639" "0" "30" "5" "1293863" "1293863" "subst" "0.000758735" "02329" "TERT_000096" "g.1293863G>A" "" "" "" "TERT(NM_198253.2):c.1138C>T (p.P380S), TERT(NM_198253.3):c.1138C>T (p.P380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994640" "0" "30" "5" "1294597" "1294597" "subst" "4.93705E-6" "01804" "TERT_000197" "g.1294597C>G" "" "" "" "TERT(NM_198253.2):c.404G>C (p.(Gly135Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014048" "0" "10" "5" "1253744" "1253744" "subst" "0" "02369" "TERT_000198" "g.1253744G>A" "" "" "" "TERT(NM_198253.2):c.*99C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014049" "0" "10" "5" "1255520" "1255520" "subst" "0.130089" "02369" "TERT_000106" "g.1255520G>A" "" "" "" "TERT(NM_198253.2):c.3039C>T (p.H1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014070" "0" "30" "5" "1278927" "1278927" "subst" "0.000476074" "01804" "TERT_000181" "g.1278927C>T" "" "" "" "TERT(NM_001193376.1):c.2131-16G>A (p.(=)), TERT(NM_198253.2):c.2131-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014071" "0" "70" "5" "1279456" "1279456" "subst" "0" "02325" "TERT_000046" "g.1279456C>T" "" "" "" "TERT(NM_198253.3):c.2080G>A (p.V694M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014072" "0" "10" "5" "1280477" "1280477" "subst" "0.12733" "02369" "TERT_000199" "g.1280477G>A" "" "" "" "TERT(NM_198253.2):c.1770-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014073" "0" "30" "5" "1282746" "1282746" "subst" "0.00103494" "02329" "TERT_000094" "g.1282746C>T" "" "" "" "TERT(NM_198253.2):c.1574-7G>A, TERT(NM_198253.3):c.1574-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014074" "0" "10" "5" "1294086" "1294086" "subst" "0.287761" "02369" "TERT_000097" "g.1294086C>T" "" "" "" "TERT(NM_198253.2):c.915G>A (p.A305=), TERT(NM_198253.3):c.915G>A (p.A305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024999" "0" "10" "5" "1258667" "1258667" "subst" "0.00396935" "02369" "TERT_000200" "g.1258667G>A" "" "" "" "TERT(NM_198253.2):c.3032+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025005" "0" "30" "5" "1266590" "1266590" "subst" "2.95239E-5" "02329" "TERT_000158" "g.1266590T>C" "" "" "" "TERT(NM_198253.2):c.2643A>G (p.K881=), TERT(NM_198253.3):c.2643A>G (p.K881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025028" "0" "50" "5" "1294028" "1294028" "subst" "0" "02327" "TERT_000201" "g.1294028A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034844" "0" "30" "5" "1272708" "1272708" "subst" "0" "01804" "TERT_000202" "g.1272708G>A" "" "" "" "TERT(NM_198253.3):c.2287-313C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034882" "0" "30" "5" "1278787" "1278787" "subst" "0.00014214" "01804" "TERT_000179" "g.1278787T>C" "" "" "" "TERT(NM_198253.2):c.2255A>G (p.H752R), TERT(NM_198253.3):c.2255A>G (p.(His752Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034883" "0" "50" "5" "1278865" "1278865" "subst" "4.06078E-5" "01804" "TERT_000038" "g.1278865G>A" "" "" "" "TERT(NM_198253.3):c.2177C>T (p.(Thr726Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034886" "0" "50" "5" "1294598" "1294598" "subst" "7.90592E-5" "01804" "TERT_000137" "g.1294598C>T" "" "" "" "TERT(NM_198253.3):c.403G>A (p.(Gly135Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045495" "0" "30" "5" "1294879" "1294879" "subst" "0.000319972" "03779" "TERT_000103" "g.1294879G>A" "" "" "" "" "" "Unknown" "" "rs573817924" "0" "" "" "" "" "likely benign" "" "0001046007" "0" "70" "5" "1255527" "1255527" "subst" "0" "02325" "TERT_000203" "g.1255527C>G" "" "" "" "TERT(NM_198253.3):c.3033-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046010" "0" "30" "5" "1294191" "1294191" "subst" "2.46548E-5" "01804" "TERT_000099" "g.1294191G>A" "" "" "" "TERT(NM_001193376.1):c.810C>T (p.(Phe270=)), TERT(NM_198253.3):c.810C>T (p.F270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046011" "0" "90" "5" "1294244" "1294244" "subst" "0" "02325" "TERT_000204" "g.1294244G>A" "" "" "" "TERT(NM_198253.3):c.757C>T (p.Q253*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001047160" "0" "30" "5" "1260539" "1260539" "subst" "0.00215561" "03779" "TERT_000205" "g.1260539G>A" "" "" "" "" "" "Unknown" "" "rs77339271" "0" "" "" "" "" "likely benign" "" "0001049019" "0" "30" "5" "1294879" "1294879" "subst" "0.000319972" "03779" "TERT_000103" "g.1294879G>A" "" "" "" "" "" "Unknown" "" "rs573817924" "0" "" "" "" "" "likely benign" "" ## 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 TERT ## Count = 306 "{{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}}" "0000004071" "00024211" "00" "2286" "172" "2286" "172" "c.2286+172G>A" "r.(=)" "p.(=)" "" "0000010399" "00024211" "00" "2286" "198" "2286" "199" "c.2286+198_2286+199dup" "r.(=)" "p.(=)" "" "0000130185" "00024211" "00" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "" "0000171055" "00024211" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Pro33Ser)" "1" "0000171056" "00024211" "90" "164" "0" "164" "0" "c.164T>A" "r.(?)" "p.(Leu55Gln)" "1" "0000171057" "00024211" "90" "166" "0" "166" "0" "c.166G>C" "r.(?)" "p.(Val56Leu)" "1" "0000171058" "00024211" "90" "193" "0" "193" "0" "c.193C>G" "r.(?)" "p.(Pro65Ala)" "1" "0000171059" "00024211" "90" "248" "0" "248" "0" "c.248G>C" "r.(?)" "p.(Arg83Pro)" "2" "0000171060" "00024211" "90" "277" "1" "277" "1" "c.277+1G>A" "r.spl" "p.?" "2" "0000171061" "00024211" "90" "336" "0" "336" "0" "c.336del" "r.(?)" "p.(Glu113Argfs*15)" "2" "0000171062" "00024211" "90" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "2" "0000171063" "00024211" "90" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Val170Met)" "2" "0000171064" "00024211" "90" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "2" "0000171065" "00024211" "90" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "2" "0000171066" "00024211" "90" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Gly260Asp)" "2" "0000171067" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "4" "0000171068" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "4" "0000171069" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "4" "0000171070" "00024211" "90" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Val299Met)" "2" "0000171071" "00024211" "90" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Ser368Phe)" "2" "0000171072" "00024211" "90" "1142" "0" "1142" "0" "c.1142G>C" "r.(?)" "p.(Arg381Pro)" "2" "0000171073" "00024211" "10" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "2" "0000171074" "00024211" "10" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "2" "0000171075" "00024211" "10" "1323" "0" "1325" "0" "c.1323_1325del" "r.(?)" "p.(Glu441del)" "2" "0000171076" "00024211" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Cys)" "2" "0000171077" "00024211" "90" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Arg522Lys)" "2" "0000171078" "00024211" "90" "1570" "0" "1570" "0" "c.1570C>G" "r.(?)" "p.(Pro524Ala)" "2" "0000171079" "00024211" "90" "1710" "0" "1710" "0" "c.1710G>Y" "r.(?)" "p.(Lys570Asn)" "3" "0000171080" "00024211" "90" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Thr567Met)" "3" "0000171081" "00024211" "90" "1892" "0" "1892" "0" "c.1892G>A" "r.(?)" "p.(Arg631Gln)" "4" "0000171082" "00024211" "90" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" "5" "0000171083" "00024211" "90" "2033" "0" "2033" "0" "c.2033C>A" "r.(?)" "p.(Ala678Asp)" "5" "0000171084" "00024211" "90" "2045" "0" "2045" "0" "c.2045G>A" "r.(?)" "p.(Gly682Asp)" "5" "0000171085" "00024211" "90" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Val694Met)" "5" "0000171086" "00024211" "90" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Pro702Leu)" "5" "0000171087" "00024211" "90" "2173" "0" "2173" "0" "c.2173C>T" "r.(?)" "p.(Leu725Phe)" "6" "0000171088" "00024211" "90" "2110" "0" "2110" "0" "c.2110C>T" "r.(?)" "p.(Pro704Ser)" "5" "0000171089" "00024211" "90" "2110" "0" "2110" "0" "c.2110C>T" "r.(?)" "p.(Pro704Ser)" "5" "0000171090" "00024211" "90" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Ala716Val)" "6" "0000171091" "00024211" "90" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Asp718Asn)" "6" "0000171092" "00024211" "90" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Ala716Thr)" "6" "0000171093" "00024211" "90" "2162" "0" "2162" "0" "c.2162C>G" "r.(?)" "p.(Pro721Arg)" "6" "0000171094" "00024211" "90" "2177" "0" "2177" "0" "c.2177C>T" "r.(?)" "p.(Thr726Met)" "6" "0000171095" "00024211" "90" "2240" "0" "2240" "0" "c.2240del" "r.(?)" "p.(Val747Alafs*20)" "6" "0000171096" "00024211" "90" "2315" "0" "2315" "0" "c.2315A>G" "r.(?)" "p.(Tyr772Cys)" "7" "0000171097" "00024211" "90" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Arg811Cys)" "8" "0000171098" "00024211" "90" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Leu841Phe)" "9" "0000171099" "00024211" "90" "2537" "0" "2537" "0" "c.2537A>G" "r.(?)" "p.(Tyr846Cys)" "9" "0000171100" "00024211" "90" "2581" "0" "2581" "0" "c.2581G>A" "r.(?)" "p.(Gly861Arg)" "9" "0000171101" "00024211" "90" "2583" "-2" "2583" "-2" "c.2583-2A>C" "r.spl" "p.(Leu862_Leu884del)" "9i" "0000171102" "00024211" "90" "2593" "0" "2593" "0" "c.2593C>T" "r.(?)" "p.(Arg865Cys)" "10" "0000171103" "00024211" "90" "2594" "0" "2594" "0" "c.2594G>A" "r.(?)" "p.(Arg865His)" "10" "0000171104" "00024211" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "10" "0000171105" "00024211" "90" "2628" "0" "2628" "0" "c.2628C>G" "r.(?)" "p.(His876Gln)" "10" "0000171106" "00024211" "90" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889*)" "11" "0000171107" "00024211" "90" "2701" "0" "2701" "0" "c.2701C>T" "r.(?)" "p.(Arg901Trp)" "11" "0000171108" "00024211" "90" "2706" "0" "2706" "0" "c.2706G>C" "r.(?)" "p.(Lys902Asn)" "11" "0000171109" "00024211" "90" "2705" "0" "2705" "0" "c.2705A>G" "r.(?)" "p.(Lys902Arg)" "11" "0000171110" "00024211" "90" "2768" "0" "2768" "0" "c:2768C>T" "r.(?)" "p.(Pro923Leu)" "11" "0000171111" "00024211" "90" "2775" "0" "2775" "0" "c.2775C>A" "r.(?)" "p.(His925Gln)" "11" "0000171112" "00024211" "90" "2851" "0" "2851" "0" "c.2851C>T" "r.(?)" "p.(Arg951Trp)" "12" "0000171113" "00024211" "90" "2869" "0" "2869" "0" "c.2869A>C" "r.(?)" "p.(Ser957Arg)" "12" "0000171114" "00024211" "90" "2915" "0" "2915" "0" "c.2915G>A" "r.(?)" "p.(Arg972His)" "12" "0000171115" "00024211" "90" "2935" "0" "2935" "0" "c.2935C>T" "r.(?)" "p.(Arg979Trp)" "12" "0000171116" "00024211" "90" "2935" "0" "2935" "0" "c.2935C>T" "r.(?)" "p.(Arg979Trp)" "12" "0000171117" "00024211" "90" "3043" "0" "3043" "0" "c.3043T>C" "r.(?)" "p.(Cys1015Arg)" "14" "0000171118" "00024211" "90" "3055" "0" "3055" "0" "c.3055C>T" "r.(?)" "p.(Leu1019Phe)" "14" "0000171119" "00024211" "90" "3073" "0" "3073" "0" "c.3073G>T" "r.(?)" "p.(Val1025Phe)" "14" "0000171120" "00024211" "90" "3082" "0" "3082" "0" "c.3082A>C" "r.(?)" "p.(Asn1028His)" "14" "0000171121" "00024211" "90" "3148" "0" "3148" "0" "c.3148A>G" "r.(?)" "p.(Lys1050Glu)" "14" "0000171122" "00024211" "10" "3184" "0" "3184" "0" "c.3184G>A" "r.(?)" "p.(Ala1062Thr)" "15" "0000171123" "00024211" "10" "3184" "0" "3184" "0" "c.3184G>A" "r.(?)" "p.(Ala1062Thr)" "15" "0000171124" "00024211" "10" "3184" "0" "3184" "0" "c.3184G>A" "r.(?)" "p.(Ala1062Thr)" "15" "0000171125" "00024211" "90" "3187" "0" "3187" "0" "c.3187G>A" "r.(?)" "p.(Gly1063Ser)" "15" "0000171126" "00024211" "90" "3251" "0" "3251" "0" "c.3251G>C" "r.(?)" "p.(Arg1084Pro)" "15" "0000171127" "00024211" "90" "3268" "0" "3268" "0" "c.3268G>A" "r.(?)" "p.(Val1090Met)" "15" "0000171128" "00024211" "90" "3329" "0" "3329" "0" "c.3329C>T" "r.(?)" "p.(Thr1110Met)" "16" "0000171129" "00024211" "90" "3346" "0" "3522" "0" "c.3346_*123del" "r.(?)" "p.(Glu1116fs)" "16" "0000171130" "00024211" "90" "3379" "0" "3379" "0" "c.3379T>C" "r.(?)" "p.(Phe1127Leu)" "16" "0000171131" "00024211" "90" "3379" "0" "3379" "0" "c.3379T>C" "r.(?)" "p.(Phe1127Leu)" "16" "0000171132" "00024211" "90" "3388" "0" "3388" "0" "c.3388A>G" "r.(?)" "p.(Ile1130Val)" "16" "0000254314" "00024211" "30" "1584" "0" "1584" "0" "c.1584T>G" "r.(?)" "p.(Cys528Trp)" "" "0000311782" "00024211" "30" "1574" "-16" "1574" "-16" "c.1574-16G>C" "r.(=)" "p.(=)" "" "0000311783" "00024211" "30" "1812" "0" "1812" "0" "c.1812A>G" "r.(?)" "p.(Ala604=)" "" "0000311784" "00024211" "30" "2106" "0" "2106" "0" "c.2106G>A" "r.(?)" "p.(Pro702=)" "" "0000311785" "00024211" "30" "2108" "0" "2108" "0" "c.2108C>T" "r.(?)" "p.(Pro703Leu)" "" "0000311786" "00024211" "30" "219" "7" "219" "7" "c.219+7C>T" "r.(=)" "p.(=)" "" "0000311787" "00024211" "30" "2582" "17" "2582" "17" "c.2582+17C>T" "r.(=)" "p.(=)" "" "0000311788" "00024211" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Gly215=)" "" "0000311789" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "" "0000311790" "00024211" "10" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Ala305=)" "" "0000313259" "00024211" "10" "1812" "0" "1812" "0" "c.1812A>G" "r.(?)" "p.(Ala604=)" "" "0000313260" "00024211" "10" "1950" "10" "1950" "10" "c.1950+10C>T" "r.(=)" "p.(=)" "" "0000313261" "00024211" "10" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(Gly677=)" "" "0000313262" "00024211" "10" "2097" "0" "2097" "0" "c.2097C>T" "r.(?)" "p.(Ala699=)" "" "0000313263" "00024211" "30" "2221" "0" "2221" "0" "c.2221G>A" "r.(?)" "p.(Val741Met)" "" "0000313264" "00024211" "30" "2286" "11" "2286" "11" "c.2286+11C>T" "r.(=)" "p.(=)" "" "0000313265" "00024211" "30" "2971" "-10" "2971" "-10" "c.2971-10G>T" "r.(=)" "p.(=)" "" "0000313266" "00024211" "30" "3158" "-19" "3158" "-19" "c.3158-19A>C" "r.(=)" "p.(=)" "" "0000313267" "00024211" "10" "3184" "0" "3184" "0" "c.3184G>A" "r.(?)" "p.(Ala1062Thr)" "" "0000313268" "00024211" "30" "3257" "0" "3257" "0" "c.3257G>A" "r.(?)" "p.(Arg1086His)" "" "0000313269" "00024211" "10" "3324" "0" "3324" "0" "c.3324G>A" "r.(?)" "p.(Pro1108=)" "" "0000313270" "00024211" "30" "3398" "0" "3398" "0" "c.3398G>A" "r.(?)" "p.(Ter1133=)" "" "0000313271" "00024211" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "" "0000313272" "00024211" "30" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Phe270=)" "" "0000313273" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "" "0000313274" "00024211" "30" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000314494" "00024211" "10" "1574" "-7" "1574" "-7" "c.1574-7G>A" "r.(=)" "p.(=)" "" "0000314495" "00024211" "10" "1950" "10" "1950" "10" "c.1950+10C>T" "r.(=)" "p.(=)" "" "0000314496" "00024211" "10" "1950" "15" "1950" "15" "c.1950+15G>A" "r.(=)" "p.(=)" "" "0000314497" "00024211" "10" "3184" "0" "3184" "0" "c.3184G>A" "r.(?)" "p.(Ala1062Thr)" "" "0000314498" "00024211" "50" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132Gln)" "" "0000314499" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "" "0000316465" "00024211" "30" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" "" "0000316466" "00024211" "30" "1770" "-7" "1770" "-7" "c.1770-7A>G" "r.(=)" "p.(=)" "" "0000316467" "00024211" "30" "1849" "0" "1849" "0" "c.1849C>T" "r.(?)" "p.(Leu617=)" "" "0000316468" "00024211" "30" "219" "7" "219" "7" "c.219+7C>T" "r.(=)" "p.(=)" "" "0000316469" "00024211" "70" "2638" "0" "2638" "0" "c.2638G>A" "r.(?)" "p.(Ala880Thr)" "" "0000316470" "00024211" "30" "2640" "0" "2640" "0" "c.2640G>A" "r.(?)" "p.(Ala880=)" "" "0000316471" "00024211" "50" "2689" "0" "2689" "0" "c.2689G>A" "r.(?)" "p.(Val897Met)" "" "0000316472" "00024211" "50" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Ala157Thr)" "" "0000316473" "00024211" "50" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Thr26Met)" "" "0000339347" "00024211" "10" "3324" "0" "3324" "0" "c.3324G>A" "r.(?)" "p.(Pro1108=)" "" "0000339348" "00024211" "30" "3105" "0" "3105" "0" "c.3105C>T" "r.(?)" "p.(Val1035=)" "" "0000339349" "00024211" "10" "3039" "0" "3039" "0" "c.3039C>T" "r.(?)" "p.(His1013=)" "" "0000339361" "00024211" "10" "2097" "0" "2097" "0" "c.2097C>T" "r.(?)" "p.(Ala699=)" "" "0000339362" "00024211" "10" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(Gly677=)" "" "0000340641" "00024211" "10" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Ala305=)" "" "0000341103" "00024211" "10" "3184" "0" "3184" "0" "c.3184G>A" "r.(?)" "p.(Ala1062Thr)" "" "0000341335" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "" "0000341565" "00024211" "90" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Ala716Val)" "" "0000341578" "00024211" "50" "2251" "0" "2251" "0" "c.2251G>A" "r.(?)" "p.(Ala751Thr)" "" "0000341855" "00024211" "50" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132Gln)" "" "0000343183" "00024211" "70" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(Arg622Cys)" "" "0000344808" "00024211" "30" "1151" "0" "1151" "0" "c.1151A>T" "r.(?)" "p.(Gln384Leu)" "" "0000344914" "00024211" "30" "1824" "0" "1824" "0" "c.1824G>T" "r.(?)" "p.(Gln608His)" "" "0000346469" "00024211" "30" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0000348090" "00024211" "50" "2124" "0" "2124" "0" "c.2124T>G" "r.(?)" "p.(Phe708Leu)" "" "0000349617" "00024211" "50" "2177" "0" "2177" "0" "c.2177C>T" "r.(?)" "p.(Thr726Met)" "" "0000350255" "00024211" "70" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Met)" "" "0000350678" "00024211" "30" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Val84Met)" "" "0000523929" "00024211" "30" "3164" "0" "3164" "0" "c.3164C>T" "r.(?)" "p.(Ser1055Leu)" "" "0000523930" "00024211" "90" "3148" "0" "3148" "0" "c.3148A>G" "r.(?)" "p.(Lys1050Glu)" "" "0000523931" "00024211" "30" "2991" "0" "2991" "0" "c.2991G>A" "r.(?)" "p.(Val997=)" "" "0000523955" "00024211" "30" "2970" "7" "2970" "7" "c.2970+7A>G" "r.(=)" "p.(=)" "" "0000523956" "00024211" "30" "2970" "7" "2970" "7" "c.2970+7A>G" "r.(=)" "p.(=)" "" "0000523966" "00024211" "50" "2812" "0" "2812" "0" "c.2812C>T" "r.(?)" "p.(Arg938Trp)" "" "0000523967" "00024211" "10" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(His925=)" "" "0000523968" "00024211" "30" "2721" "0" "2721" "0" "c.2721C>T" "r.(?)" "p.(Phe907=)" "" "0000523969" "00024211" "30" "2661" "0" "2661" "0" "c.2661G>T" "r.(?)" "p.(Leu887=)" "" "0000523970" "00024211" "30" "2654" "10" "2654" "10" "c.2654+10G>A" "r.(=)" "p.(=)" "" "0000523976" "00024211" "30" "2517" "0" "2517" "0" "c.2517G>A" "r.(?)" "p.(Thr839=)" "" "0000523977" "00024211" "30" "2517" "0" "2517" "0" "c.2517G>A" "r.(?)" "p.(Thr839=)" "" "0000523978" "00024211" "50" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Glu793Lys)" "" "0000523979" "00024211" "70" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Glu793Lys)" "" "0000523980" "00024211" "70" "2312" "0" "2312" "0" "c.2312C>T" "r.(?)" "p.(Pro771Leu)" "" "0000524101" "00024211" "30" "2256" "0" "2256" "0" "c.2256T>C" "r.(?)" "p.(His752=)" "" "0000524102" "00024211" "30" "2205" "0" "2205" "0" "c.2205C>A" "r.(?)" "p.(Pro735=)" "" "0000524103" "00024211" "30" "2106" "0" "2106" "0" "c.2106G>A" "r.(?)" "p.(Pro702=)" "" "0000524104" "00024211" "30" "2106" "0" "2106" "0" "c.2106G>A" "r.(?)" "p.(Pro702=)" "" "0000524105" "00024211" "30" "2106" "0" "2106" "0" "c.2106G>A" "r.(?)" "p.(Pro702=)" "" "0000524106" "00024211" "50" "2019" "0" "2019" "0" "c.2019del" "r.(?)" "p.(Gly674AlafsTer40)" "" "0000524107" "00024211" "30" "1951" "-5" "1951" "-5" "c.1951-5G>A" "r.spl?" "p.?" "" "0000524109" "00024211" "30" "1812" "0" "1812" "0" "c.1812A>G" "r.(?)" "p.(Ala604=)" "" "0000524110" "00024211" "30" "1812" "0" "1812" "0" "c.1812A>G" "r.(?)" "p.(Ala604=)" "" "0000524111" "00024211" "30" "1574" "-16" "1574" "-16" "c.1574-16G>C" "r.(=)" "p.(=)" "" "0000524112" "00024211" "30" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(Phe464=)" "" "0000524113" "00024211" "30" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(Phe464=)" "" "0000524114" "00024211" "30" "1323" "0" "1325" "0" "c.1323_1325del" "r.(?)" "p.(Glu441del)" "" "0000524115" "00024211" "30" "1323" "0" "1325" "0" "c.1323_1325del" "r.(?)" "p.(Glu441del)" "" "0000524116" "00024211" "50" "1323" "0" "1325" "0" "c.1323_1325del" "r.(?)" "p.(Glu441del)" "" "0000524117" "00024211" "30" "1323" "0" "1325" "0" "c.1323_1325del" "r.(?)" "p.(Glu441del)" "" "0000524118" "00024211" "30" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0000524119" "00024211" "30" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0000524120" "00024211" "10" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0000524121" "00024211" "30" "1200" "0" "1200" "0" "c.1200C>T" "r.(?)" "p.(His400=)" "" "0000524122" "00024211" "30" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" "" "0000524123" "00024211" "30" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377His)" "" "0000524124" "00024211" "30" "949" "0" "949" "0" "c.949T>C" "r.(?)" "p.(Trp317Arg)" "" "0000524125" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "" "0000524126" "00024211" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Gly215=)" "" "0000524127" "00024211" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "" "0000524128" "00024211" "30" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Leu178=)" "" "0000524129" "00024211" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Gly135Arg)" "" "0000524130" "00024211" "30" "343" "0" "343" "0" "c.343T>G" "r.(?)" "p.(Phe115Val)" "" "0000524131" "00024211" "30" "330" "0" "330" "0" "c.330C>A" "r.(?)" "p.(Gly110=)" "" "0000524132" "00024211" "30" "76" "0" "76" "0" "c.76A>G" "r.(?)" "p.(Thr26Ala)" "" "0000579831" "00024211" "50" "3257" "0" "3257" "0" "c.3257G>A" "r.(?)" "p.(Arg1086His)" "" "0000609415" "00024211" "10" "3184" "0" "3184" "0" "c.3184G>A" "r.(?)" "p.(Ala1062Thr)" "" "0000609416" "00024211" "30" "3184" "0" "3184" "0" "c.3184G>A" "r.(?)" "p.(Ala1062Thr)" "" "0000609455" "00024211" "30" "2235" "0" "2235" "0" "c.2235C>T" "r.(?)" "p.(Ala745=)" "" "0000609456" "00024211" "10" "2097" "0" "2097" "0" "c.2097C>T" "r.(?)" "p.(Ala699=)" "" "0000609457" "00024211" "10" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(Gly677=)" "" "0000621457" "00024211" "30" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(Ile836=)" "" "0000621459" "00024211" "30" "2382" "30" "2382" "30" "c.2382+30C>T" "r.(=)" "p.(=)" "" "0000621464" "00024211" "70" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Ala716Val)" "" "0000621465" "00024211" "30" "2052" "0" "2052" "0" "c.2052C>T" "r.(?)" "p.(Asp684=)" "" "0000651578" "00024211" "30" "1950" "10" "1950" "10" "c.1950+10C>T" "r.(=)" "p.(=)" "" "0000651579" "00024211" "30" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0000651580" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "" "0000653507" "00024211" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "2" "0000655250" "00024211" "50" "3350" "0" "3350" "0" "c.3350C>G" "r.(?)" "p.(Ala1117Gly)" "" "0000655251" "00024211" "50" "2990" "0" "2990" "0" "c.2990T>G" "r.(?)" "p.(Val997Gly)" "" "0000655255" "00024211" "30" "2287" "-8" "2287" "-8" "c.2287-8G>A" "r.(=)" "p.(=)" "" "0000655270" "00024211" "30" "2106" "0" "2106" "0" "c.2106G>A" "r.(?)" "p.(Pro702=)" "" "0000655271" "00024211" "30" "2099" "0" "2099" "0" "c.2099A>G" "r.(?)" "p.(Gln700Arg)" "" "0000655272" "00024211" "30" "1937" "0" "1937" "0" "c.1937G>A" "r.(?)" "p.(Arg646His)" "" "0000655273" "00024211" "30" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0000669824" "00024211" "10" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "" "0000677363" "00024211" "30" "3105" "0" "3105" "0" "c.3105C>T" "r.(?)" "p.(Val1035=)" "" "0000677367" "00024211" "50" "2303" "0" "2303" "0" "c.2303A>T" "r.(?)" "p.(Asp768Val)" "" "0000677382" "00024211" "30" "1323" "0" "1325" "0" "c.1323_1325del" "r.(?)" "p.(Glu441del)" "" "0000677383" "00024211" "30" "919" "0" "919" "0" "c.919C>A" "r.(?)" "p.(Pro307Thr)" "" "0000677384" "00024211" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "" "0000684751" "00024211" "10" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" "" "0000689399" "00024211" "10" "3324" "0" "3324" "0" "c.3324G>A" "r.(?)" "p.(Pro1108=)" "" "0000689400" "00024211" "30" "3252" "0" "3252" "0" "c.3252A>G" "r.(?)" "p.(Arg1084=)" "" "0000689401" "00024211" "30" "3105" "0" "3105" "0" "c.3105C>T" "r.(?)" "p.(Val1035=)" "" "0000689406" "00024211" "30" "2328" "0" "2328" "0" "c.2328C>T" "r.(?)" "p.(Phe776=)" "" "0000720106" "00024211" "50" "3199" "0" "3199" "0" "c.3199T>G" "r.(?)" "p.(Ser1067Ala)" "" "0000720116" "00024211" "50" "2843" "6" "2843" "6" "c.2843+6C>T" "r.(=)" "p.(=)" "" "0000720117" "00024211" "30" "2643" "0" "2643" "0" "c.2643A>G" "r.(?)" "p.(Lys881=)" "" "0000720119" "00024211" "50" "2411" "0" "2411" "0" "c.2411G>A" "r.(?)" "p.(Gly804Asp)" "" "0000720120" "00024211" "30" "2383" "-15" "2383" "-15" "c.2383-15C>T" "r.(=)" "p.(=)" "" "0000720121" "00024211" "70" "2312" "0" "2312" "0" "c.2312C>T" "r.(?)" "p.(Pro771Leu)" "" "0000720122" "00024211" "30" "2307" "0" "2307" "0" "c.2307C>T" "r.(?)" "p.(Leu769=)" "" "0000720123" "00024211" "50" "2303" "0" "2303" "0" "c.2303A>T" "r.(?)" "p.(Asp768Val)" "" "0000720157" "00024211" "30" "681" "0" "681" "0" "c.681T>A" "r.(?)" "p.(Ser227Arg)" "" "0000720158" "00024211" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "" "0000720159" "00024211" "30" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Arg195Gly)" "" "0000801838" "00024211" "30" "2418" "0" "2418" "0" "c.2418C>T" "r.(?)" "p.(Phe806=)" "" "0000801839" "00024211" "50" "2321" "0" "2321" "0" "c.2321G>A" "r.(?)" "p.(Arg774Gln)" "" "0000801866" "00024211" "30" "1950" "6" "1950" "6" "c.1950+6T>C" "r.(=)" "p.(=)" "" "0000801873" "00024211" "30" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Leu161=)" "" "0000850742" "00024211" "50" "2354" "0" "2354" "0" "c.2354C>G" "r.(?)" "p.(Pro785Arg)" "" "0000850753" "00024211" "50" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Arg698Trp)" "" "0000850754" "00024211" "10" "1950" "10" "1950" "10" "c.1950+10C>T" "r.(=)" "p.(=)" "" "0000850755" "00024211" "30" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Asp628=)" "" "0000850756" "00024211" "30" "1593" "0" "1593" "0" "c.1593C>T" "r.(?)" "p.(Ala531=)" "" "0000850757" "00024211" "50" "178" "0" "178" "0" "c.178T>G" "r.(?)" "p.(Trp60Gly)" "" "0000850758" "00024211" "30" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Asp43=)" "" "0000859717" "00024211" "30" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(His925=)" "" "0000859718" "00024211" "30" "2654" "15" "2654" "15" "c.2654+15G>A" "r.(=)" "p.(=)" "" "0000859740" "00024211" "10" "2097" "0" "2097" "0" "c.2097C>T" "r.(?)" "p.(Ala699=)" "" "0000859744" "00024211" "30" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000859745" "00024211" "50" "89" "0" "89" "0" "c.89G>T" "r.(?)" "p.(Arg30Leu)" "" "0000886554" "00024211" "30" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(His925=)" "" "0000886555" "00024211" "30" "2658" "0" "2658" "0" "c.2658C>A" "r.(?)" "p.(Thr886=)" "" "0000886557" "00024211" "30" "2582" "17" "2582" "17" "c.2582+17C>T" "r.(=)" "p.(=)" "" "0000886558" "00024211" "50" "2411" "0" "2411" "0" "c.2411G>T" "r.(?)" "p.(Gly804Val)" "" "0000886559" "00024211" "30" "2328" "0" "2328" "0" "c.2328C>T" "r.(?)" "p.(Phe776=)" "" "0000886584" "00024211" "50" "1663" "0" "1663" "0" "c.1663G>C" "r.(?)" "p.(Glu555Gln)" "" "0000912195" "00024211" "50" "2474" "0" "2474" "0" "c.2474A>G" "r.(?)" "p.(Tyr825Cys)" "" "0000912214" "00024211" "30" "2255" "0" "2255" "0" "c.2255A>G" "r.(?)" "p.(His752Arg)" "" "0000912215" "00024211" "90" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Ala716Thr)" "" "0000924211" "00024211" "30" "3296" "-5" "3296" "-5" "c.3296-5C>T" "r.spl?" "p.?" "" "0000924212" "00024211" "30" "2991" "0" "2991" "0" "c.2991G>A" "r.(?)" "p.(Val997=)" "" "0000924230" "00024211" "30" "2235" "0" "2235" "0" "c.2235C>T" "r.(?)" "p.(Ala745=)" "" "0000924231" "00024211" "30" "2131" "-16" "2131" "-16" "c.2131-16G>A" "r.(=)" "p.(=)" "" "0000924232" "00024211" "30" "943" "0" "943" "0" "c.943C>A" "r.(?)" "p.(Arg315Ser)" "" "0000924233" "00024211" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Ser295=)" "" "0000927703" "00024211" "30" "3158" "-81" "3158" "-81" "c.3158-81C>T" "r.(?)" "p.(?)" "" "0000929006" "00024211" "30" "1812" "0" "1812" "0" "c.1812A>G" "r.(?)" "p.(Ala604=)" "" "0000929008" "00024211" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0000929009" "00024211" "30" "219" "7" "219" "7" "c.219+7C>T" "r.(=)" "p.(=)" "" "0000948436" "00024211" "30" "3105" "0" "3105" "0" "c.3105C>T" "r.(?)" "p.(Val1035=)" "" "0000948437" "00024211" "30" "2991" "0" "2991" "0" "c.2991G>A" "r.(?)" "p.(Val997=)" "" "0000948440" "00024211" "30" "2517" "0" "2517" "0" "c.2517G>A" "r.(?)" "p.(Thr839=)" "" "0000948465" "00024211" "30" "2154" "0" "2154" "0" "c.2154C>T" "r.(?)" "p.(=)" "" "0000948466" "00024211" "30" "2130" "20" "2130" "20" "c.2130+20G>A" "r.(=)" "p.(=)" "" "0000948467" "00024211" "50" "1584" "0" "1584" "0" "c.1584T>G" "r.(?)" "p.(Cys528Trp)" "" "0000948468" "00024211" "10" "1574" "-3777" "1574" "-3777" "c.1574-3777G>T" "r.(=)" "p.(=)" "" "0000948469" "00024211" "30" "219" "7" "219" "7" "c.219+7C>T" "r.(=)" "p.(=)" "" "0000959998" "00024211" "30" "2109" "0" "2109" "0" "c.2109G>C" "r.(?)" "p.(Pro703=)" "" "0000963386" "00024211" "50" "3033" "-14" "3033" "-14" "c.3033-14C>T" "r.(=)" "p.(=)" "" "0000963425" "00024211" "30" "1951" "-27" "1951" "-27" "c.1951-27G>A" "r.(=)" "p.(=)" "" "0000971523" "00024211" "70" "2620" "0" "2624" "0" "c.2620_2624delinsTGAGG" "r.(?)" "p.(Thr874Ter)" "" "0000971524" "00024211" "70" "2761" "0" "2761" "0" "c.2761C>T" "r.(?)" "p.(Gln921Ter)" "" "0000976485" "00024211" "50" "3164" "0" "3164" "0" "c.3164C>T" "r.(?)" "p.(Ser1055Leu)" "" "0000976486" "00024211" "30" "3033" "-12" "3033" "-12" "c.3033-12C>T" "r.(=)" "p.(=)" "" "0000994587" "00024211" "30" "2843" "7" "2843" "7" "c.2843+7G>A" "r.(=)" "p.(=)" "" "0000994588" "00024211" "30" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(His925=)" "" "0000994636" "00024211" "50" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(Arg669Trp)" "" "0000994637" "00024211" "30" "1843" "0" "1843" "0" "c.1843G>A" "r.(?)" "p.(Ala615Thr)" "" "0000994639" "00024211" "30" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" "" "0000994640" "00024211" "30" "404" "0" "404" "0" "c.404G>C" "r.(?)" "p.(Gly135Ala)" "" "0001014048" "00024211" "10" "3498" "0" "3498" "0" "c.*99C>T" "r.(=)" "p.(=)" "" "0001014049" "00024211" "10" "3039" "0" "3039" "0" "c.3039C>T" "r.(?)" "p.(His1013=)" "" "0001014070" "00024211" "30" "2131" "-16" "2131" "-16" "c.2131-16G>A" "r.(=)" "p.(=)" "" "0001014071" "00024211" "70" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Val694Met)" "" "0001014072" "00024211" "10" "1770" "-24" "1770" "-24" "c.1770-24C>T" "r.(=)" "p.(=)" "" "0001014073" "00024211" "30" "1574" "-7" "1574" "-7" "c.1574-7G>A" "r.(=)" "p.(=)" "" "0001014074" "00024211" "10" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Ala305=)" "" "0001024999" "00024211" "10" "3032" "46" "3032" "46" "c.3032+46C>T" "r.(=)" "p.(=)" "" "0001025005" "00024211" "30" "2643" "0" "2643" "0" "c.2643A>G" "r.(?)" "p.(Lys881=)" "" "0001025028" "00024211" "50" "973" "0" "973" "0" "c.973T>G" "r.(?)" "p.(Tyr325Asp)" "" "0001034844" "00024211" "30" "2287" "-313" "2287" "-313" "c.2287-313C>T" "r.(=)" "p.(=)" "" "0001034882" "00024211" "30" "2255" "0" "2255" "0" "c.2255A>G" "r.(?)" "p.(His752Arg)" "" "0001034883" "00024211" "50" "2177" "0" "2177" "0" "c.2177C>T" "r.(?)" "p.(Thr726Met)" "" "0001034886" "00024211" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Gly135Arg)" "" "0001045495" "00024211" "30" "219" "7" "219" "7" "c.219+7C>T" "r.(?)" "p.(?)" "" "0001046007" "00024211" "70" "3033" "-1" "3033" "-1" "c.3033-1G>C" "r.spl?" "p.?" "" "0001046010" "00024211" "30" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Phe270=)" "" "0001046011" "00024211" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Gln253*)" "" "0001047160" "00024211" "30" "2970" "50" "2970" "50" "c.2970+50C>T" "r.(?)" "p.(?)" "" "0001049019" "00024211" "30" "219" "7" "219" "7" "c.219+7C>T" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004071" "0000000210" "0000010399" "0000081099" "0000130185" "0000105605" "0000171055" "0000105606" "0000171056" "0000105607" "0000171057" "0000105608" "0000171058" "0000105609" "0000171059" "0000105610" "0000171060" "0000105611" "0000171061" "0000105612" "0000171062" "0000105613" "0000171063" "0000105614" "0000171064" "0000105615" "0000171065" "0000105616" "0000171066" "0000105617" "0000171067" "0000105618" "0000171068" "0000105619" "0000171069" "0000105620" "0000171070" "0000105621" "0000171071" "0000105622" "0000171072" "0000105623" "0000171073" "0000105624" "0000171074" "0000105625" "0000171075" "0000105626" "0000171076" "0000105627" "0000171077" "0000105628" "0000171078" "0000105629" "0000171079" "0000105630" "0000171080" "0000105631" "0000171081" "0000105632" "0000171082" "0000105633" "0000171083" "0000105634" "0000171084" "0000105635" "0000171085" "0000105636" "0000171086" "0000105637" "0000171087" "0000105638" "0000171088" "0000105639" "0000171089" "0000105640" "0000171090" "0000105641" "0000171091" "0000105642" "0000171092" "0000105643" "0000171093" "0000105644" "0000171094" "0000105645" "0000171095" "0000105646" "0000171096" "0000105647" "0000171097" "0000105648" "0000171098" "0000105649" "0000171099" "0000105650" "0000171100" "0000105651" "0000171101" "0000105652" "0000171102" "0000105653" "0000171103" "0000105654" "0000171104" "0000105655" "0000171105" "0000105656" "0000171106" "0000105657" "0000171107" "0000105658" "0000171108" "0000105659" "0000171109" "0000105660" "0000171110" "0000105661" "0000171111" "0000105662" "0000171112" "0000105663" "0000171113" "0000105664" "0000171114" "0000105665" "0000171115" "0000105666" "0000171116" "0000105667" "0000171117" "0000105668" "0000171118" "0000105669" "0000171119" "0000105670" "0000171120" "0000105671" "0000171121" "0000105672" "0000171122" "0000105673" "0000171123" "0000105674" "0000171124" "0000105675" "0000171125" "0000105676" "0000171126" "0000105677" "0000171127" "0000105678" "0000171128" "0000105679" "0000171129" "0000105680" "0000171130" "0000105681" "0000171131" "0000105682" "0000171132" "0000250533" "0000579831" "0000294889" "0000651578" "0000294890" "0000651579" "0000294891" "0000651580" "0000296795" "0000653507" "0000306136" "0000669824" "0000309849" "0000684751"