### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EGFR) # 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}}" "EGFR" "epidermal growth factor receptor" "7" "p12" "unknown" "NG_007726.3" "UD_132119048723" "" "http://www.LOVD.nl/EGFR" "" "1" "3236" "1956" "131550" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/EGFR_codingDNA.html" "1" "" "" "0" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-02-08 17:54:55" "00000" "2025-08-26 15:35:03" ## 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}}" "00006933" "EGFR" "transcript variant 1" "001" "NM_005228.3" "" "NP_005219.2" "" "" "" "-246" "5354" "3633" "55086725" "55275031" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04183" "WDRTS" "Wiedemann-Rautenstrauch syndrome" "AR" "264090" "" "" "" "00006" "2015-02-08 17:44:31" "00006" "2023-10-24 16:45:18" "04460" "NISBD2" "inflammatory skin and bowel disease, neonatal, type 2 (NISBD-2)" "AR" "616069" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EGFR" "00639" "EGFR" "04460" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00029676" "" "" "" "2" "" "01215" "{PMID:Ganetzky 2015:26436111}" "2 affected homozygous siblings, unaffected carrier parents" "M" "yes" "" "00y01m" "0" "yes" "" "Romani" "26436111-Pat" "00089106" "" "" "" "3" "" "01836" "{PMID:Poirier 2017:28145425}, {DOI:Poirier 2017:0.1038/ejhg.2017.3}" "2-generation family, 3 affecteds, father, daugther and son" "F;M" "?" "France" "" "0" "" "" "" "28145425-Fam" "00104009" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-509A" "00207533" "" "" "" "1" "" "00006" "{PMID:Campbell 2014:24691054}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Poland" "" "0" "" "" "gypsy Roma" "24691054-Pat" "00294474" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" "00316095" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K129" "00326432" "" "" "" "1" "" "00006" "{PMID:Wang 2018:30120215}" "" "" "" "China" "" "0" "" "" "" "AVM312" "00464411" "" "" "" "1" "" "00006" "{PMID:Asahina 2006:17045698}" "" "M" "" "Japan" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00029676" "04183" "00089106" "00139" "00104009" "03381" "00207533" "04183" "00294474" "00198" "00307257" "01544" "00316095" "05342" "00326432" "00198" "00464411" "00639" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00639, 01544, 03381, 04183, 04460, 05342 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000025773" "04183" "00029676" "01215" "Familial, autosomal recessive" "00y01m" "classified as neonatal progeria syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000068500" "00139" "00089106" "01836" "Familial, autosomal dominant" "" "delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, normal head circumference, minor dysmorphic features incl. epicanthal folds, ptosis, short philtrum, prognathism, fetal pads, protruding ears; intellectual disability (HP:0001249); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "" "0000081943" "03381" "00104009" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "0000155311" "04183" "00207533" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y00m00d" "" "extensive skin inflammation" "" "" "" "" "" "" "" "" "" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "" "0000239842" "05342" "00316095" "00006" "Unknown" "" "renal dysplasia; cysts; diabetes" "" "" "" "" "" "" "" "" "" "" "renal dysplasia" "" "0000244895" "00198" "00326432" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000350432" "00639" "00464411" "00006" "Unknown" "61y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029718" "00029676" "1" "01215" "01215" "2015-01-26 22:22:46" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000089252" "00089106" "1" "01836" "01836" "2016-11-29 11:49:49" "" "" "SEQ-NG" "DNA" "blood" "" "0000104480" "00104009" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000208572" "00207533" "1" "00006" "00006" "2018-11-23 19:56:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000295642" "00294474" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000317277" "00316095" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000327646" "00326432" "1" "00006" "00006" "2021-01-12 13:51:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466046" "00464411" "1" "00006" "00006" "2025-03-10 14:22:53" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000029718" "EGFR" "0000089252" "CES5A" "0000089252" "EGFR" "0000089252" "GADL1" "0000089252" "KCNC1" "0000089252" "KIAA1024" "0000089252" "SLC35A5" "0000089252" "TPH1" "0000208572" "EGFR" "0000317277" "EGFR" "0000317277" "FOXC2" "0000317277" "HOXA11" "0000327646" "EGFR" "0000466046" "EGFR" ## 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 = 74 "{{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}}" "0000053113" "3" "90" "7" "55225431" "55225431" "subst" "4.06085E-6" "01215" "EGFR_000001" "g.55225431G>A" "" "{PMID:Ganetzky 2015:26436111}" "" "" "not reported in any controls in ESP5400" "Germline" "yes" "" "0" "" "" "g.55157738G>A" "" "pathogenic" "" "0000147178" "0" "50" "7" "55266550" "55266550" "subst" "1.21902E-5" "01836" "EGFR_000002" "g.55266550G>A" "" "{PMID:Poirier 2017:28145425}, {DOI:Poirier 2017:0.1038/ejhg.2017.3}" "" "" "" "Germline" "no" "" "0" "" "" "g.55198857G>A" "" "VUS" "" "0000169221" "0" "70" "7" "55268033" "55268033" "subst" "8.12137E-6" "00587" "EGFR_000003" "g.55268033G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_005228.4(EGFR):c.2873G>A p.(Arg958His)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.55200340G>A" "" "likely pathogenic" "" "0000250292" "0" "30" "7" "55268949" "55268949" "subst" "0.00227398" "02329" "EGFR_000023" "g.55268949A>G" "" "" "" "EGFR(NM_001346899.1):c.2880A>G (p.E960=), EGFR(NM_005228.3):c.3015A>G (p.(=)), EGFR(NM_005228.5):c.3015A>G (p.E1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55201256A>G" "" "likely benign" "" "0000267777" "0" "10" "7" "55238874" "55238874" "subst" "0.375797" "02325" "EGFR_000011" "g.55238874T>A" "" "" "" "EGFR(NM_005228.5):c.1887T>A (p.T629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55171181T>A" "" "benign" "" "0000267778" "0" "50" "7" "55238088" "55238088" "subst" "0" "02325" "EGFR_000009" "g.55238088C>T" "" "" "" "EGFR(NM_201284.2):c.1969C>T (p.Q657*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55170395C>T" "" "VUS" "" "0000267779" "0" "30" "7" "55238093" "55238093" "subst" "6.49778E-5" "02325" "EGFR_000010" "g.55238093C>T" "" "" "" "EGFR(NM_201284.2):c.1974C>T (p.S658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55170400C>T" "" "likely benign" "" "0000267780" "0" "30" "7" "55241721" "55241721" "subst" "4.87353E-5" "02325" "EGFR_000014" "g.55241721C>T" "" "" "" "EGFR(NM_005228.5):c.2169C>T (p.F723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55174028C>T" "" "likely benign" "" "0000267781" "0" "10" "7" "55249063" "55249063" "subst" "0.524004" "02325" "EGFR_000015" "g.55249063G>A" "" "" "" "EGFR(NM_005228.5):c.2361G>A (p.Q787=), EGFR-AS1(NR_047551.1):n.1201C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55181370G>A" "" "benign" "" "0000267782" "0" "50" "7" "55259563" "55259563" "subst" "0" "02325" "EGFR_000017" "g.55259563G>A" "" "" "" "EGFR(NM_005228.5):c.2621G>A (p.G874D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55191870G>A" "" "VUS" "" "0000267783" "0" "10" "7" "55266417" "55266417" "subst" "0.894468" "02325" "EGFR_000019" "g.55266417T>C" "" "" "" "EGFR(NM_005228.5):c.2709T>C (p.T903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55198724T>C" "" "benign" "" "0000268772" "0" "30" "7" "55229188" "55229188" "subst" "5.71298E-5" "02329" "EGFR_000007" "g.55229188G>A" "" "" "" "EGFR(NM_005228.5):c.1499-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161495G>A" "" "likely benign" "" "0000268773" "0" "10" "7" "55229202" "55229202" "subst" "0.00749748" "02329" "EGFR_000008" "g.55229202C>T" "" "" "" "EGFR(NM_005228.5):c.1509C>T (p.G503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161509C>T" "" "benign" "" "0000268774" "0" "10" "7" "55240803" "55240803" "subst" "0.00776512" "02329" "EGFR_000012" "g.55240803C>T" "" "" "" "EGFR(NM_005228.5):c.2047C>T (p.L683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55173110C>T" "" "benign" "" "0000268775" "0" "30" "7" "55240834" "55240834" "subst" "0.000146473" "02329" "EGFR_000013" "g.55240834G>A" "" "" "" "EGFR(NM_005228.5):c.2061+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55173141G>A" "" "likely benign" "" "0000268776" "0" "10" "7" "55259450" "55259450" "subst" "0.0167171" "02329" "EGFR_000016" "g.55259450C>T" "" "" "" "EGFR(NM_005228.5):c.2508C>T (p.R836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55191757C>T" "" "benign" "" "0000268777" "0" "30" "7" "55260440" "55260440" "subst" "0.00759046" "02329" "EGFR_000018" "g.55260440C>T" "" "" "" "EGFR(NM_005228.5):c.2626-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55192747C>T" "" "likely benign" "" "0000268778" "0" "30" "7" "55269077" "55269078" "del" "0" "02329" "EGFR_000020" "g.55269077_55269078del" "" "" "" "EGFR(NM_005228.5):c.3114+29_3114+30delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55201384_55201385del" "" "likely benign" "" "0000268779" "0" "30" "7" "55211096" "55211096" "subst" "4.06065E-5" "02329" "EGFR_000005" "g.55211096C>T" "" "" "" "EGFR(NM_005228.5):c.339C>T (p.Y113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55143403C>T" "" "likely benign" "" "0000268780" "0" "30" "7" "55273130" "55273130" "subst" "0" "02329" "EGFR_000021" "g.55273130C>T" "" "" "" "EGFR(NM_005228.5):c.3453C>T (p.F1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55205437C>T" "" "likely benign" "" "0000268781" "0" "50" "7" "55273306" "55273306" "subst" "0.000284276" "02329" "EGFR_000022" "g.55273306C>T" "" "" "" "EGFR(NM_005228.5):c.3629C>T (p.A1210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55205613C>T" "" "VUS" "" "0000268782" "0" "10" "7" "55214405" "55214405" "subst" "0.00516594" "02329" "EGFR_000006" "g.55214405G>A" "" "" "" "EGFR(NM_005228.5):c.531G>A (p.S177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55146712G>A" "" "benign" "" "0000276002" "0" "30" "7" "55087031" "55087031" "subst" "0" "01943" "EGFR_000004" "g.55087031G>A" "" "" "" "EGFR(NM_005228.3):c.61G>A (p.A21T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55019338G>A" "" "likely benign" "" "0000438455" "3" "90" "7" "55225431" "55225431" "subst" "4.06085E-6" "00006" "EGFR_000001" "g.55225431G>A" "" "{PMID:Campbell 2014:24691054}" "" "" "" "Germline" "" "" "0" "" "" "g.55157738G>A" "" "pathogenic (recessive)" "" "0000532246" "0" "50" "7" "55220341" "55220341" "subst" "2.03666E-5" "02329" "EGFR_000024" "g.55220341G>A" "" "" "" "EGFR(NM_005228.5):c.731G>A (p.R244Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55152648G>A" "" "VUS" "" "0000532247" "0" "30" "7" "55221714" "55221714" "subst" "3.6545E-5" "01943" "EGFR_000025" "g.55221714A>G" "" "" "" "EGFR(NM_005228.3):c.758A>G (p.K253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154021A>G" "" "likely benign" "" "0000532248" "0" "50" "7" "55224463" "55224463" "subst" "0" "01943" "EGFR_000026" "g.55224463C>T" "" "" "" "EGFR(NM_005228.3):c.1145C>T (p.T382I), EGFR(NM_005228.5):c.1145C>T (p.T382I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156770C>T" "" "VUS" "" "0000532249" "0" "10" "7" "55229255" "55229255" "subst" "0.292248" "02325" "EGFR_000027" "g.55229255G>A" "" "" "" "EGFR(NM_005228.3):c.1562G>A (p.R521K), EGFR(NM_005228.5):c.1562G>A (p.R521K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55161562G>A" "" "benign" "" "0000532250" "0" "10" "7" "55229255" "55229255" "subst" "0.292248" "02326" "EGFR_000027" "g.55229255G>A" "" "" "" "EGFR(NM_005228.3):c.1562G>A (p.R521K), EGFR(NM_005228.5):c.1562G>A (p.R521K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55161562G>A" "" "benign" "" "0000532251" "0" "30" "7" "55233049" "55233049" "subst" "2.84292E-5" "01943" "EGFR_000028" "g.55233049T>C" "" "" "" "EGFR(NM_005228.3):c.1799T>C (p.M600T, p.(Met600Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55165356T>C" "" "likely benign" "" "0000532252" "0" "50" "7" "55233049" "55233049" "subst" "2.84292E-5" "01804" "EGFR_000028" "g.55233049T>C" "" "" "" "EGFR(NM_005228.3):c.1799T>C (p.M600T, p.(Met600Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55165356T>C" "" "VUS" "" "0000532253" "0" "30" "7" "55268949" "55268949" "subst" "0.00227398" "01943" "EGFR_000023" "g.55268949A>G" "" "" "" "EGFR(NM_001346899.1):c.2880A>G (p.E960=), EGFR(NM_005228.3):c.3015A>G (p.(=)), EGFR(NM_005228.5):c.3015A>G (p.E1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55201256A>G" "" "likely benign" "" "0000532254" "0" "30" "7" "55268949" "55268949" "subst" "0.00227398" "01804" "EGFR_000023" "g.55268949A>G" "" "" "" "EGFR(NM_001346899.1):c.2880A>G (p.E960=), EGFR(NM_005228.3):c.3015A>G (p.(=)), EGFR(NM_005228.5):c.3015A>G (p.E1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55201256A>G" "" "likely benign" "" "0000532255" "0" "30" "7" "55272940" "55272940" "subst" "0" "01943" "EGFR_000029" "g.55272940C>T" "" "" "" "EGFR(NM_005228.3):c.3272-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55205247C>T" "" "likely benign" "" "0000532256" "0" "50" "7" "55273228" "55273228" "subst" "8.1285E-6" "01943" "EGFR_000030" "g.55273228A>G" "" "" "" "EGFR(NM_005228.3):c.3551A>G (p.N1184S), EGFR(NM_005228.5):c.3551A>G (p.N1184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55205535A>G" "" "VUS" "" "0000532257" "0" "30" "7" "55273228" "55273228" "subst" "8.1285E-6" "02329" "EGFR_000030" "g.55273228A>G" "" "" "" "EGFR(NM_005228.3):c.3551A>G (p.N1184S), EGFR(NM_005228.5):c.3551A>G (p.N1184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55205535A>G" "" "likely benign" "" "0000611136" "0" "50" "7" "55214367" "55214367" "subst" "5.68537E-5" "01943" "EGFR_000031" "g.55214367C>T" "" "" "" "EGFR(NM_005228.3):c.493C>T (p.R165W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55146674C>T" "" "VUS" "" "0000652331" "1" "50" "7" "55268045" "55268045" "subst" "0.000292364" "03575" "EGFR_000032" "g.55268045G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs144496976}" "Germline" "" "rs144496976" "0" "" "" "g.55200352G>A" "" "VUS" "" "0000655852" "0" "30" "7" "55228041" "55228041" "subst" "1.23786E-5" "01943" "EGFR_000033" "g.55228041C>T" "" "" "" "EGFR(NM_001346899.1):c.1363+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55160348C>T" "" "likely benign" "" "0000655853" "0" "30" "7" "55259429" "55259429" "subst" "0.000593525" "01943" "EGFR_000034" "g.55259429G>A" "" "" "" "EGFR(NM_001346899.1):c.2352G>A (p.E784=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55191736G>A" "" "likely benign" "" "0000655854" "0" "50" "7" "55268045" "55268045" "subst" "0.000292364" "01943" "EGFR_000032" "g.55268045G>A" "" "" "" "EGFR(NM_001346899.1):c.2750G>A (p.R917H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55200352G>A" "" "VUS" "" "0000682727" "0" "70" "7" "55260527" "55260527" "subst" "0" "03753" "EGFR_000035" "g.55260527G>A" "0.091" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000690027" "0" "30" "7" "55266456" "55266456" "subst" "0.000613178" "01943" "EGFR_000036" "g.55266456C>T" "" "" "" "EGFR(NM_001346899.1):c.2613C>T (p.D871=), EGFR(NM_005228.5):c.2748C>T (p.D916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699801" "0" "50" "7" "0" "0" "" "0" "00006" "EZH2_000001" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000711429" "11" "70" "7" "55238010" "55238010" "subst" "4.06167E-6" "00006" "EGFR_000037" "g.55238010G>T" "" "{PMID:Wang 2018:30120215}" "" "NM_201284.1:c.1891G>T (Glu631Ter)" "" "Germline" "" "" "0" "" "" "g.55170317G>T" "" "likely pathogenic" "" "0000721495" "0" "50" "7" "55229225" "55229225" "subst" "0.000109688" "02327" "EGFR_000038" "g.55229225C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803189" "0" "50" "7" "55242484" "55242484" "subst" "4.06055E-6" "02325" "EGFR_000039" "g.55242484T>A" "" "" "" "EGFR(NM_005228.5):c.2254T>A (p.S752T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851633" "0" "50" "7" "55238094" "55238094" "subst" "3.65506E-5" "01943" "EGFR_000041" "g.55238094G>A" "" "" "" "EGFR(NM_201284.1):c.1975G>A (p.G659R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851634" "0" "50" "7" "55240780" "55240780" "subst" "0.000230032" "01943" "EGFR_000042" "g.55240780G>A" "" "" "" "EGFR(NM_001346899.1):c.1889G>A (p.R630Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851635" "0" "50" "7" "55259485" "55259485" "subst" "0.000357514" "01943" "EGFR_000043" "g.55259485C>T" "" "" "" "EGFR(NM_001346899.1):c.2408C>T (p.P803L), EGFR(NM_005228.5):c.2543C>T (p.P848L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851636" "0" "50" "7" "55270297" "55270299" "del" "0" "01943" "EGFR_000044" "g.55270297_55270299del" "" "" "" "EGFR(NM_001346899.1):c.3115_3117delGAC (p.D1039del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887915" "0" "50" "7" "55224463" "55224463" "subst" "0" "02325" "EGFR_000026" "g.55224463C>T" "" "" "" "EGFR(NM_005228.3):c.1145C>T (p.T382I), EGFR(NM_005228.5):c.1145C>T (p.T382I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887916" "0" "50" "7" "55273131" "55273131" "subst" "2.03457E-5" "02325" "EGFR_000045" "g.55273131G>C" "" "" "" "EGFR(NM_005228.5):c.3454G>C (p.D1152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912768" "0" "50" "7" "55221845" "55221845" "subst" "0" "02326" "EGFR_000046" "g.55221845C>G" "" "" "" "EGFR(NM_001346900.2):c.730C>G (p.R244G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912769" "0" "10" "7" "55241755" "55241755" "subst" "0.0362577" "01804" "EGFR_000047" "g.55241755G>A" "" "" "" "EGFR(NM_001346897.1):c.2049+19G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927947" "0" "50" "7" "55249007" "55249007" "subst" "2.84682E-5" "03779" "EGFR_000048" "g.55249007G>A" "" "" "" "" "" "Unknown" "" "rs147149347" "0" "" "" "" "" "VUS" "" "0000964617" "0" "50" "7" "55223604" "55223604" "subst" "4.06779E-6" "02325" "EGFR_000049" "g.55223604G>A" "" "" "" "EGFR(NM_005228.5):c.971G>A (p.R324H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996577" "0" "50" "7" "55225403" "55225403" "subst" "0" "02329" "EGFR_000050" "g.55225403G>A" "" "" "" "EGFR(NM_005228.5):c.1255G>A (p.A419T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014367" "0" "50" "7" "55227866" "55227866" "subst" "4.06124E-6" "02329" "EGFR_000051" "g.55227866A>G" "" "" "" "EGFR(NM_005228.5):c.1333A>G (p.I445V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014368" "0" "50" "7" "55240692" "55240692" "subst" "3.6714E-5" "02329" "EGFR_000052" "g.55240692A>C" "" "" "" "EGFR(NM_005228.5):c.1936A>C (p.I646L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025405" "0" "30" "7" "55210990" "55210990" "subst" "0.000446693" "02329" "EGFR_000053" "g.55210990C>G" "" "" "" "EGFR(NM_005228.5):c.241-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025406" "0" "50" "7" "55249029" "55249029" "subst" "0" "02329" "EGFR_000054" "g.55249029G>A" "" "" "" "EGFR(NM_005228.5):c.2327G>A (p.R776H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025407" "0" "30" "7" "55266456" "55266456" "subst" "0.000613178" "02329" "EGFR_000036" "g.55266456C>T" "" "" "" "EGFR(NM_001346899.1):c.2613C>T (p.D871=), EGFR(NM_005228.5):c.2748C>T (p.D916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025408" "0" "50" "7" "55268930" "55268930" "subst" "8.1213E-5" "02325" "EGFR_000055" "g.55268930G>A" "" "" "" "EGFR(NM_005228.5):c.2996G>A (p.R999H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029861" "0" "90" "7" "55249005" "55249005" ";" "0" "00006" "EGFR_000056" "g.[55249005G>T;55249007G>T]" "" "{PMID:Asahina 2006:17045698}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.[55181312G>T;55181314G>T]" "" "pathogenic (dominant)" "" "0001030024" "0" "50" "7" "55270261" "55270261" "subst" "0" "03779" "EGFR_000059" "g.55270261G>C" "" "" "" "" "" "Unknown" "" "rs1787896241" "0" "" "" "" "" "VUS" "" "0001030026" "0" "90" "7" "55241704" "55241704" "subst" "0" "03779" "EGFR_000057" "g.55241704C>G" "" "" "" "" "" "Unknown" "" "rs995384345" "0" "" "" "" "" "pathogenic" "" "0001030028" "0" "70" "7" "55241705" "55241705" "subst" "0" "03779" "EGFR_000058" "g.55241705T>A" "" "" "" "" "" "Unknown" "" "rs2128953712" "0" "" "" "" "" "likely pathogenic" "" "0001030324" "0" "50" "7" "55224258" "55224258" "subst" "0" "03779" "EGFR_000060" "g.55224258G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001036448" "0" "50" "7" "55259485" "55259485" "subst" "0.000357514" "02329" "EGFR_000043" "g.55259485C>T" "" "" "" "EGFR(NM_001346899.1):c.2408C>T (p.P803L), EGFR(NM_005228.5):c.2543C>T (p.P848L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045030" "0" "90" "7" "55249013" "55249014" "ins" "0" "03779" "EGFR_000062" "g.55249013_55249014insGTC" "" "" "" "" "" "Unknown" "" "rs1554350351" "0" "" "" "" "" "pathogenic" "" "0001045031" "0" "50" "7" "55240752" "55240752" "subst" "8.16493E-6" "03779" "EGFR_000061" "g.55240752C>T" "" "" "" "" "" "Unknown" "" "rs771988878" "0" "" "" "" "" "VUS" "" "0001047441" "0" "70" "7" "55221816" "55221816" "subst" "0" "03779" "EGFR_000063" "g.55221816T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001047502" "0" "90" "7" "55259439" "55259439" "subst" "0" "03779" "EGFR_000064" "g.55259439T>G" "" "" "" "" "" "Unknown" "" "rs397517126" "0" "" "" "" "" "pathogenic" "" ## 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 EGFR ## Count = 74 "{{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}}" "0000053113" "00006933" "90" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Gly428Asp)" "11" "0000147178" "00006933" "50" "2842" "0" "2842" "0" "c.2842G>A" "r.(?)" "p.(Val948Ile)" "" "0000169221" "00006933" "00" "2873" "0" "2873" "0" "c.2873G>A" "r.(?)" "p.(Arg958His)" "" "0000250292" "00006933" "30" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(Glu1005=)" "" "0000267777" "00006933" "10" "1887" "0" "1887" "0" "c.1887T>A" "r.(?)" "p.(Thr629=)" "" "0000267778" "00006933" "50" "1881" "-780" "1881" "-780" "c.1881-780C>T" "r.(=)" "p.(=)" "" "0000267779" "00006933" "30" "1881" "-775" "1881" "-775" "c.1881-775C>T" "r.(=)" "p.(=)" "" "0000267780" "00006933" "30" "2169" "0" "2169" "0" "c.2169C>T" "r.(?)" "p.(Phe723=)" "" "0000267781" "00006933" "10" "2361" "0" "2361" "0" "c.2361G>A" "r.(?)" "p.(Gln787=)" "" "0000267782" "00006933" "50" "2621" "0" "2621" "0" "c.2621G>A" "r.(?)" "p.(Gly874Asp)" "" "0000267783" "00006933" "10" "2709" "0" "2709" "0" "c.2709=" "r.(=)" "p.(Thr903=)" "" "0000268772" "00006933" "30" "1499" "-4" "1499" "-4" "c.1499-4G>A" "r.spl?" "p.?" "" "0000268773" "00006933" "10" "1509" "0" "1509" "0" "c.1509C>T" "r.(?)" "p.(Gly503=)" "" "0000268774" "00006933" "10" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Leu683=)" "" "0000268775" "00006933" "30" "2061" "17" "2061" "17" "c.2061+17G>A" "r.(=)" "p.(=)" "" "0000268776" "00006933" "10" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(Arg836=)" "" "0000268777" "00006933" "30" "2626" "-19" "2626" "-19" "c.2626-19C>T" "r.(=)" "p.(=)" "" "0000268778" "00006933" "30" "3114" "29" "3114" "30" "c.3114+29_3114+30del" "r.(=)" "p.(=)" "" "0000268779" "00006933" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(Tyr113=)" "" "0000268780" "00006933" "30" "3453" "0" "3453" "0" "c.3453C>T" "r.(?)" "p.(Phe1151=)" "" "0000268781" "00006933" "50" "3629" "0" "3629" "0" "c.3629C>T" "r.(?)" "p.(Ala1210Val)" "" "0000268782" "00006933" "10" "531" "0" "531" "0" "c.531G>A" "r.(?)" "p.(Ser177=)" "" "0000276002" "00006933" "30" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Ala21Thr)" "" "0000438455" "00006933" "90" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Gly428Asp)" "" "0000532246" "00006933" "50" "731" "0" "731" "0" "c.731G>A" "r.(?)" "p.(Arg244Gln)" "" "0000532247" "00006933" "30" "758" "0" "758" "0" "c.758A>G" "r.(?)" "p.(Lys253Arg)" "" "0000532248" "00006933" "50" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Thr382Ile)" "" "0000532249" "00006933" "10" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521Lys)" "" "0000532250" "00006933" "10" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521Lys)" "" "0000532251" "00006933" "30" "1799" "0" "1799" "0" "c.1799T>C" "r.(?)" "p.(Met600Thr)" "" "0000532252" "00006933" "50" "1799" "0" "1799" "0" "c.1799T>C" "r.(?)" "p.(Met600Thr)" "" "0000532253" "00006933" "30" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(Glu1005=)" "" "0000532254" "00006933" "30" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(Glu1005=)" "" "0000532255" "00006933" "30" "3272" "-9" "3272" "-9" "c.3272-9C>T" "r.(=)" "p.(=)" "" "0000532256" "00006933" "50" "3551" "0" "3551" "0" "c.3551A>G" "r.(?)" "p.(Asn1184Ser)" "" "0000532257" "00006933" "30" "3551" "0" "3551" "0" "c.3551A>G" "r.(?)" "p.(Asn1184Ser)" "" "0000611136" "00006933" "50" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Trp)" "" "0000652331" "00006933" "50" "2885" "0" "2885" "0" "c.2885G>A" "r.(?)" "p.(Arg962His)" "" "0000655852" "00006933" "30" "1498" "10" "1498" "10" "c.1498+10C>T" "r.(=)" "p.(=)" "" "0000655853" "00006933" "30" "2487" "0" "2487" "0" "c.2487G>A" "r.(?)" "p.(Glu829=)" "" "0000655854" "00006933" "50" "2885" "0" "2885" "0" "c.2885G>A" "r.(?)" "p.(Arg962His)" "" "0000682727" "00006933" "70" "2694" "0" "2694" "0" "c.2694G>A" "r.(?)" "p.(Trp898*)" "" "0000690027" "00006933" "30" "2748" "0" "2748" "0" "c.2748C>T" "r.(?)" "p.(Asp916=)" "" "0000699801" "00006933" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly573Arg)" "" "0000711429" "00006933" "70" "1881" "-858" "1881" "-858" "c.1881-858G>T" "r.?" "p.?" "" "0000721495" "00006933" "50" "1532" "0" "1532" "0" "c.1532C>A" "r.(?)" "p.(Ser511Tyr)" "" "0000803189" "00006933" "50" "2254" "0" "2254" "0" "c.2254T>A" "r.(?)" "p.(Ser752Thr)" "" "0000851633" "00006933" "50" "1881" "-774" "1881" "-774" "c.1881-774G>A" "r.(=)" "p.(=)" "" "0000851634" "00006933" "50" "2024" "0" "2024" "0" "c.2024G>A" "r.(?)" "p.(Arg675Gln)" "" "0000851635" "00006933" "50" "2543" "0" "2543" "0" "c.2543C>T" "r.(?)" "p.(Pro848Leu)" "" "0000851636" "00006933" "50" "3250" "0" "3252" "0" "c.3250_3252del" "r.(?)" "p.(Asp1084del)" "" "0000887915" "00006933" "50" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Thr382Ile)" "" "0000887916" "00006933" "50" "3454" "0" "3454" "0" "c.3454G>C" "r.(?)" "p.(Asp1152His)" "" "0000912768" "00006933" "50" "889" "0" "889" "0" "c.889C>G" "r.(?)" "p.(Arg297Gly)" "" "0000912769" "00006933" "10" "2184" "19" "2184" "19" "c.2184+19G>A" "r.(=)" "p.(=)" "" "0000927947" "00006933" "50" "2305" "0" "2305" "0" "c.2305G>A" "r.(?)" "p.(Val769Met)" "" "0000964617" "00006933" "50" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324His)" "" "0000996577" "00006933" "50" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Ala419Thr)" "" "0001014367" "00006933" "50" "1333" "0" "1333" "0" "c.1333A>G" "r.(?)" "p.(Ile445Val)" "" "0001014368" "00006933" "50" "1936" "0" "1936" "0" "c.1936A>C" "r.(?)" "p.(Ile646Leu)" "" "0001025405" "00006933" "30" "241" "-8" "241" "-8" "c.241-8C>G" "r.(=)" "p.(=)" "" "0001025406" "00006933" "50" "2327" "0" "2327" "0" "c.2327G>A" "r.(?)" "p.(Arg776His)" "" "0001025407" "00006933" "30" "2748" "0" "2748" "0" "c.2748C>T" "r.(?)" "p.(Asp916=)" "" "0001025408" "00006933" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Arg999His)" "" "0001029861" "00006933" "90" "2303" "0" "2303" "0" "c.[2303G>T;2305G>T]" "r.(?)" "p.(Ser768_Val769delinsIleLeu)" "20" "0001030024" "00006933" "50" "3214" "0" "3214" "0" "c.3214G>C" "r.(?)" "p.(Asp1072His)" "" "0001030026" "00006933" "90" "2152" "0" "2152" "0" "c.2152C>G" "r.(?)" "p.(Leu718Val)" "" "0001030028" "00006933" "70" "2153" "0" "2153" "0" "c.2153T>A" "r.(?)" "p.(Leu718Gln)" "" "0001030324" "00006933" "50" "1039" "0" "1039" "0" "c.1039G>T" "r.(?)" "p.(Asp347Tyr)" "" "0001036448" "00006933" "50" "2543" "0" "2543" "0" "c.2543C>T" "r.(?)" "p.(Pro848Leu)" "" "0001045030" "00006933" "90" "2311" "0" "2312" "0" "c.2311_2312insGTC" "r.(?)" "p.(Asn771delinsSerHis)" "" "0001045031" "00006933" "50" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Leu666Phe)" "" "0001047441" "00006933" "70" "860" "0" "860" "0" "c.860T>G" "r.(?)" "p.(Phe287Cys)" "" "0001047502" "00006933" "90" "2497" "0" "2497" "0" "c.2497T>G" "r.(?)" "p.(Leu833Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000029718" "0000053113" "0000089252" "0000147178" "0000104480" "0000169221" "0000208572" "0000438455" "0000295642" "0000652331" "0000308399" "0000682727" "0000317277" "0000699801" "0000327646" "0000711429" "0000466046" "0001029861"