### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DICER1) # 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}}" "DICER1" "dicer 1, ribonuclease type III" "14" "q32.13" "unknown" "NG_016311.1" "UD_132118635522" "" "https://www.LOVD.nl/DICER1" "" "1" "17098" "23405" "606241" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.\r\nWe gratefully acknowledge Nancy Hamel for curating the DICER1 database until the end of 2020." "" "g" "http://databases.lovd.nl/shared/refseq/DICER1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2021-05-28 14:46:59" "00000" "2025-09-17 15:25:02" ## 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}}" "00024226" "DICER1" "transcript variant 1" "001" "NM_177438.2" "" "NP_803187.1" "" "" "" "-238" "10039" "5769" "95623759" "95552565" "00006" "2017-02-05 11:03:57" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "01351" "MNG1" "Goiter, multinodular, type 1, with/without Sertoli-Leydig cell tumors (MNG-1)" "AD" "138800" "" "" "" "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" "01545" "RMSE2" "rhabdomyosarcoma, embryonal, type 2 (RMSE-2)" "" "180295" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02346" "PPB" "blastoma, pleuropulmonary (PPB)" "AD" "601200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "06247" "GLOW" "GLOW syndrome, somatic mosaic" "" "618272" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "DICER1" "01351" "DICER1" "01545" "DICER1" "02346" "DICER1" "06247" ## Individuals ## Do not remove or alter this header ## ## Count = 132 "{{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}}" "00100661" "" "" "" "2" "" "00000" "" "3-generation family, 2 affecteds" "" "" "" "" "0" "" "" "" "" "00100662" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100663" "" "" "" "3" "" "00000" "" "4-generation family, 3 affecteds" "" "" "" "" "0" "" "" "" "" "00100664" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100665" "" "" "" "6" "" "00000" "" "4-generation family, 6 affecteds" "" "" "" "" "0" "" "" "" "" "00100666" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100667" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100668" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100669" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100670" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100671" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100672" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100673" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100674" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100675" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100676" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100677" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100678" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100679" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100680" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100681" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100682" "" "" "" "2" "" "00000" "" "4-generation family, 2 affecteds" "" "" "" "" "0" "" "" "" "" "00100683" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100684" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100685" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100686" "" "" "" "1" "" "01933" "" "" "?" "?" "" "" "0" "" "" "" "" "00100687" "" "" "" "1" "" "01933" "" "" "F" "?" "Poland" "" "0" "" "" "" "" "00100688" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100689" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100690" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100691" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100692" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100693" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100694" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100695" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100696" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100697" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100698" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100699" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100700" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100701" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100702" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100703" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100704" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100705" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100706" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100707" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100708" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100709" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100710" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100711" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100712" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100713" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100714" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100715" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100716" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100717" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100718" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100719" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100720" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100721" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100722" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100723" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100724" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100725" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100726" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100727" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100728" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100729" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100730" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100731" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100732" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100733" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100734" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100735" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100736" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100737" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100738" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100739" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100740" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100741" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100742" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100743" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100744" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100745" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100746" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100747" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100748" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100749" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100750" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00100751" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100752" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100753" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100754" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100755" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100756" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100757" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100758" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100759" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100760" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100761" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100762" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100763" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100764" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100765" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100766" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100767" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100768" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100769" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100770" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100771" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100772" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100773" "" "" "" "1" "" "01933" "" "" "" "" "" "" "0" "" "" "" "" "00100774" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100775" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100776" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100777" "" "" "" "1" "" "01933" "" "" "M" "" "" "" "0" "" "" "" "" "00100778" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00100779" "" "" "" "1" "" "01933" "" "" "F" "" "" "" "0" "" "" "" "" "00246511" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00266479" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Argentina" "" "00266481" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266485" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Italy" "" "00295503" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295594" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295982" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00307262" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 86" "00353941" "" "" "" "1" "" "02551" "" "" "M" "" "" "" "0" "" "" "" "" "00399726" "" "" "" "1" "" "00006" "{PMID:Ponten 2022:33208384}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Sweden" "" "0" "" "" "" "patient" "00419660" "" "" "" "2" "" "02300" "{PMID:Marinakis 2021:34008892}" "2-generation family, patient and similarly affected mother" "F" "" "Greece" "" "0" "" "" "" "9117" "00419998" "" "" "" "3" "" "00006" "{PMID:Yang 2015:26241669}" "3-generation family, 3 affected (3F)" "F" "" "China" "" "0" "" "" "" "FamPatII2" "00460950" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 132 "{{individualid}}" "{{diseaseid}}" "00100661" "02346" "00100662" "02346" "00100663" "02346" "00100664" "02346" "00100665" "02346" "00100666" "02346" "00100667" "02346" "00100668" "02346" "00100669" "02346" "00100670" "02346" "00100671" "02346" "00100672" "02346" "00100673" "02346" "00100674" "02346" "00100675" "02346" "00100676" "02346" "00100677" "02346" "00100678" "02346" "00100679" "02346" "00100680" "02346" "00100681" "02346" "00100682" "02346" "00100683" "02346" "00100684" "02346" "00100685" "02346" "00100686" "02346" "00100687" "02346" "00100688" "02346" "00100689" "02346" "00100690" "02346" "00100691" "02346" "00100692" "02346" "00100693" "02346" "00100694" "02346" "00100695" "02346" "00100696" "02346" "00100697" "02346" "00100698" "02346" "00100699" "02346" "00100700" "02346" "00100701" "02346" "00100702" "02346" "00100703" "02346" "00100704" "02346" "00100705" "02346" "00100706" "02346" "00100707" "02346" "00100708" "02346" "00100709" "02346" "00100710" "02346" "00100711" "02346" "00100712" "02346" "00100713" "02346" "00100714" "02346" "00100715" "02346" "00100716" "02346" "00100717" "02346" "00100718" "02346" "00100719" "02346" "00100720" "02346" "00100721" "02346" "00100722" "02346" "00100723" "02346" "00100724" "02346" "00100725" "02346" "00100726" "02346" "00100727" "02346" "00100728" "02346" "00100729" "02346" "00100730" "02346" "00100731" "02346" "00100732" "02346" "00100733" "02346" "00100734" "02346" "00100735" "02346" "00100736" "02346" "00100737" "02346" "00100738" "02346" "00100739" "02346" "00100740" "02346" "00100741" "02346" "00100742" "02346" "00100743" "02346" "00100744" "02346" "00100745" "02346" "00100746" "02346" "00100747" "02346" "00100748" "02346" "00100749" "02346" "00100750" "02346" "00100751" "02346" "00100752" "02346" "00100753" "02346" "00100754" "02346" "00100755" "02346" "00100756" "02346" "00100757" "02346" "00100758" "02346" "00100759" "02346" "00100760" "02346" "00100761" "02346" "00100762" "02346" "00100763" "02346" "00100764" "02346" "00100765" "02346" "00100766" "02346" "00100767" "02346" "00100768" "02346" "00100769" "02346" "00100770" "02346" "00100771" "02346" "00100772" "02346" "00100773" "02346" "00100774" "02346" "00100775" "02346" "00100776" "02346" "00100777" "02346" "00100778" "02346" "00100779" "02346" "00246511" "00318" "00266479" "05093" "00266481" "00318" "00266485" "00318" "00295503" "00198" "00295594" "00198" "00295982" "00198" "00307262" "01544" "00353941" "00198" "00399726" "06247" "00419660" "00198" "00419998" "05093" "00460950" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 01351, 01544, 01545, 02346, 05093, 06247 ## Count = 123 "{{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}}" "0000078886" "02346" "00100664" "00000" "Unknown" "" "PPB, type III" "" "" "" "" "" "" "" "" "" "" "" "" "0000078887" "02346" "00100665" "00000" "Unknown" "" "PPB, type III" "" "" "" "" "" "" "" "" "" "" "" "" "0000078888" "02346" "00100668" "01933" "Familial, autosomal dominant" "" "cervical embryonal rhabdomyosarcoma (cERMS); multinodular goiter (MNG); lung cysts" "" "" "" "" "" "" "" "" "" "" "" "" "0000078889" "02346" "00100669" "01933" "Familial, autosomal dominant" "" "Multinodular goiter (MNG)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078890" "02346" "00100670" "01933" "Familial, autosomal dominant" "" "Multinodular goiter (MNG); Wilms tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000078891" "02346" "00100671" "01933" "Familial, autosomal dominant" "" "Wilms tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000078892" "02346" "00100672" "01933" "Familial, autosomal dominant" "" "Sertoli-Leydig cell tumor (SLCT); Multinodular goiter (MNG); cervical primitive neuroepithelial tumor-Ewing sarcoma (cPNET)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078893" "02346" "00100673" "01933" "Familial, autosomal dominant" "" "Pulmonary sequestration (PS); cystic nephroma (CN)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078894" "02346" "00100674" "01933" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078895" "02346" "00100675" "01933" "Familial, autosomal dominant" "" "Multinodular goiter (MNG), Sertoli-Leydig cell tumor (SLCT)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078896" "02346" "00100676" "01933" "Familial, autosomal dominant" "" "Multinodular goiter (MNG), Sertoli-Leydig cell tumor (SLCT)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078897" "02346" "00100677" "01933" "Familial, autosomal dominant" "" "Multinodular goiter (MNG), Sertoli-Leydig cell tumor (SLCT)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078898" "02346" "00100678" "01933" "Familial, autosomal dominant" "" "Multinodular goiter (MNG)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078899" "02346" "00100679" "01933" "Familial, autosomal dominant" "" "Multinodular goiter (MNG)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078900" "02346" "00100680" "01933" "Familial, autosomal dominant" "" "Cystic nephroma (CN)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078901" "02346" "00100681" "01933" "Familial, autosomal dominant" "" "Cystic nephroma (CN)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078902" "02346" "00100684" "00000" "Unknown" "" "PPB, type III" "" "" "" "" "" "" "" "" "" "" "" "" "0000078903" "02346" "00100686" "01933" "Unknown" "" "Pineoblastoma / primitive neuroectodermal tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000078904" "02346" "00100687" "01933" "Familial, autosomal dominant" "" "Sertoli-Leydig Cell tumor (SLCT), Multinodular goiter (MNG)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078905" "02346" "00100688" "01933" "Familial, autosomal dominant" "" "Pituitary blastoma (PitB)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078906" "02346" "00100689" "01933" "Familial, autosomal dominant" "" "Pineoblastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078907" "02346" "00100690" "01933" "Familial, autosomal dominant" "" "Pituitary blastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078908" "02346" "00100691" "01933" "Familial, autosomal dominant" "" "Pituitary blastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078909" "02346" "00100692" "01933" "Familial, autosomal dominant" "" "Pituitary blastoma (PitB)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078910" "02346" "00100693" "01933" "Familial, autosomal dominant" "" "Cystic nephroma (CN), papillary thyroid carcinoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078911" "02346" "00100694" "01933" "Familial, autosomal dominant" "" "Sertoli Leydig cell tumor (SLCT)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078912" "02346" "00100695" "01933" "Familial, autosomal dominant" "" "Pituitary blastoma (PitB)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078913" "02346" "00100696" "01933" "Familial, autosomal dominant" "" "Multinodular goiter (MNG), papillary thyroid cancer" "" "" "" "" "" "" "" "" "" "" "" "" "0000078914" "02346" "00100697" "01933" "Familial, autosomal dominant" "" "Pituitary blastoma (PitB)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078915" "02346" "00100698" "01933" "Familial, autosomal dominant" "" "cervical embryonal rhabdomyosarcoma (cERMS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078916" "02346" "00100699" "01933" "Familial, autosomal dominant" "" "Ciliary body medulloepithelioma (CBME), thyroid cancer" "" "" "" "" "" "" "" "" "" "" "" "" "0000078917" "02346" "00100700" "01933" "Familial, autosomal dominant" "" "Pineoblastoma, vaginal polyps, cervical polyps, Sertoli Leydig cell tumor (SLCT), cervical embryonal rhabdomyosarcoma (cERMS), brainstem embryonal rhabdomyosarcoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078918" "02346" "00100701" "01933" "Familial, autosomal dominant" "" "Pineoblastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078919" "02346" "00100702" "01933" "Familial, autosomal dominant" "" "Embryonal rhabdomyosarcoma (ERMS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078920" "02346" "00100703" "01933" "Familial, autosomal dominant" "" "Pineoblastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078921" "02346" "00100704" "01933" "Familial, autosomal dominant" "" "Pineoblastoma, renal cysts" "" "" "" "" "" "" "" "" "" "" "" "" "0000078922" "02346" "00100705" "01933" "Familial, autosomal dominant" "" "Pituitary blastoma (PitB), lung cysts, Cystic nephroma (CN)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078923" "02346" "00100706" "01933" "Familial, autosomal dominant" "" "Cystic nephroma (CN), Multinodular goiter (MNG)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078924" "02346" "00100707" "01933" "Familial, autosomal dominant" "" "Pineoblastoma, Multinodular goiter (MNG)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078925" "02346" "00100708" "01933" "Familial" "" "cervical embryonal rhabdomyosarcoma (cERMS), bladder ERMS" "" "" "" "" "" "" "" "" "" "" "" "" "0000078926" "02346" "00100709" "01933" "Familial" "" "cervical embryonal rhabdomyosarcoma (cERMS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078927" "02346" "00100710" "01933" "Familial" "" "Wilms tumor, lung cysts" "" "" "" "" "" "" "" "" "" "" "" "" "0000078928" "02346" "00100711" "01933" "Familial" "" "Wilms tumor, lung cysts" "" "" "" "" "" "" "" "" "" "" "" "" "0000078929" "02346" "00100712" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078930" "02346" "00100713" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078931" "02346" "00100714" "01933" "Familial" "" "Nasal chondromesenchymal hamartoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078932" "02346" "00100715" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078933" "02346" "00100716" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078934" "02346" "00100717" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078935" "02346" "00100718" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078936" "02346" "00100719" "01933" "Familial" "" "Renal cysts" "" "" "" "" "" "" "" "" "" "" "" "" "0000078937" "02346" "00100720" "01933" "Familial" "" "Nasal chondromesenchymal hamartoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078938" "02346" "00100721" "01933" "Familial" "" "Sertoli Leydig cell tumor, Multinodular goiter" "" "" "" "" "" "" "" "" "" "" "" "" "0000078939" "02346" "00100722" "01933" "Familial" "" "Pituitary blastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078940" "02346" "00100723" "01933" "Familial" "" "Sertoli Leydig cell tumor+ personal or family history of PPB" "" "" "" "" "" "" "" "" "" "" "" "" "0000078941" "02346" "00100724" "01933" "Familial" "" "Sertoli Leydig cell tumor+ personal or family history of PPB" "" "" "" "" "" "" "" "" "" "" "" "" "0000078942" "02346" "00100725" "01933" "Familial" "" "Gynandroblastoma + personal or family history of PPB" "" "" "" "" "" "" "" "" "" "" "" "" "0000078943" "02346" "00100726" "01933" "Familial" "" "juvenile granulosa cell tumor + personal or family history of PPB" "" "" "" "" "" "" "" "" "" "" "" "" "0000078944" "02346" "00100727" "01933" "Familial" "" "Gynandroblastoma + personal or family history of PPB" "" "" "" "" "" "" "" "" "" "" "" "" "0000078945" "02346" "00100728" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078946" "02346" "00100729" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078947" "02346" "00100730" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078948" "02346" "00100731" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078949" "02346" "00100732" "01933" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078950" "02346" "00100733" "00000" "Familial" "" "Cystic nephroma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078951" "02346" "00100734" "00000" "Familial" "" "Medulloblastoma/infratentorial primitive neuroectodermal tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000078952" "02346" "00100735" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078953" "02346" "00100736" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078954" "02346" "00100737" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078955" "02346" "00100738" "00000" "Familial" "" "Bilateral Sertoli-Leydig cell tumours" "" "" "" "" "" "" "" "" "" "" "" "" "0000078956" "02346" "00100739" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078957" "02346" "00100740" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078958" "02346" "00100741" "00000" "Familial" "" "Wilms tumor, Multinodular goiter, bilateral Sertoli Leydig cell tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000078959" "02346" "00100742" "00000" "Familial" "" "Cystic nephroma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078960" "02346" "00100743" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078961" "02346" "00100744" "00000" "Familial" "" "Intraocular medulloepithelioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078962" "02346" "00100745" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078963" "02346" "00100746" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078964" "02346" "00100747" "00000" "Familial" "" "Ovarian Sex chord stromal tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000078965" "02346" "00100748" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078966" "02346" "00100749" "00000" "Familial" "" "Sertoli Leydig cell tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000078967" "02346" "00100750" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078968" "02346" "00100751" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078969" "02346" "00100752" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078970" "02346" "00100753" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078971" "02346" "00100754" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078972" "02346" "00100755" "01933" "Unknown" "" "Anaplastic Sarcoma of kidney" "" "" "" "" "" "" "" "" "" "" "" "" "0000078973" "02346" "00100756" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078974" "02346" "00100757" "01933" "Unknown" "" "Sertoli-Leydig tumours" "" "" "" "" "" "" "" "" "" "" "" "" "0000078975" "02346" "00100758" "01933" "Unknown" "" "Nephroblastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078976" "02346" "00100759" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078977" "02346" "00100760" "01933" "Unknown" "" "Lung tumour" "" "" "" "" "" "" "" "" "" "" "" "" "0000078978" "02346" "00100761" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078979" "02346" "00100762" "01933" "Unknown" "" "Bilateral Sertoli-Leydig cell tumours" "" "" "" "" "" "" "" "" "" "" "" "" "0000078980" "02346" "00100763" "01933" "Unknown" "" "Gynandroblatoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078981" "02346" "00100764" "01933" "Unknown" "" "Ovarian undifferentiated sarcoma, Sertoli-Leydig Cell Tumour (SLCT)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078982" "02346" "00100765" "01933" "Unknown" "" "Lung cyst, thyroid nodules, Sertoli-Leydig cell tumour" "" "" "" "" "" "" "" "" "" "" "" "" "0000078983" "02346" "00100766" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078984" "02346" "00100767" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078985" "02346" "00100768" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078986" "02346" "00100769" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078987" "02346" "00100770" "01933" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078988" "02346" "00100771" "01933" "Unknown" "" "Cystic nephroma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078989" "02346" "00100772" "01933" "Unknown" "" "Intestinal polyps, cystic nephroma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078990" "02346" "00100773" "01933" "Unknown" "" "cystic nephroma, Sertoli-Leydig cell tumour, multinodular goiter" "" "" "" "" "" "" "" "" "" "" "" "" "0000078991" "02346" "00100774" "01933" "Unknown" "" "bilateral lung cysts, nasal chondromesenchymal hamartoma, small bowel polyps" "" "" "" "" "" "" "" "" "" "" "" "" "0000078992" "02346" "00100775" "01933" "Unknown" "" "bilateral renal cysts, biliteral lung cysts, pineoblastoma, follicular thyroid carcinoma, bilateral Sertoli-Leydic Cell Tumour, Ciliary body medulloepithelioma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078993" "02346" "00100776" "01933" "Unknown" "" "Lung cysts, intestinal polyps, cystic nephroma, nasal chondromesenchymal hamartoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078994" "02346" "00100777" "01933" "Unknown" "" "bilateral lung cysts," "" "" "" "" "" "" "" "" "" "" "" "" "0000078995" "02346" "00100778" "01933" "Unknown" "" "Ovarian embryonal rhabdomyosarcoma, Cystic nephroma, Multinodular goiter" "" "" "" "" "" "" "" "" "" "" "" "" "0000078996" "02346" "00100779" "01933" "Unknown" "" "Sertoli Leydig cell tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000186362" "00318" "00246511" "00643" "Unknown" "" "family history; no triple-negative breast cancer; 66y first breast cancer" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000204213" "05093" "00266479" "02337" "Unknown" "" "posterior fossa hemangioblastoma; no family history" "" "" "" "" "" "" "" "" "" "" "hemangioblastoma" "" "0000204215" "00318" "00266481" "02337" "Familial" "" "family history" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000204219" "00318" "00266485" "02337" "Familial" "" "family history" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000223074" "00198" "00295503" "01164" "Unknown" "" "Ductal carcinoma in situ (HP:0030075); Abnormality of the breast (HP:0000769)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223159" "00198" "00295594" "01164" "Unknown" "" "Neoplasm of the thyroid gland (HP:0100031); Flexion contracture (HP:0001371); Arthrogryposis multiplex congenita (HP:0002804); Thyroid carcinoma (HP:0002890)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223449" "00198" "00295982" "01164" "Unknown" "" "Breast carcinoma (HP:0003002); Abnormality of the breast (HP:0000769)" "" "" "" "" "" "" "" "" "" "" "" "" "0000233066" "01544" "00307262" "03753" "Unknown" "" "Unilateral" "" "00y05m" "HP:0000486" "" "" "" "" "" "" "" "" "" "0000253930" "00198" "00353941" "02551" "Unknown" "" "Nephroblastoma (HP:0002667)" "" "" "" "" "" "" "" "" "" "" "" "" "0000292832" "06247" "00399726" "00006" "Isolated (sporadic)" "" "see paper; ...; normal length, normal weight, pronounced macrocephaly (>99th), dysmorphic features, broad furrowed forehead, wide mouth, tooth anomalies, doughy, soft skin, multiple nevi, intellectual disability, autism, behavioural problems, surgical treatment due to left-convex thoracic scoliosis" "" "" "" "" "" "" "" "" "" "GLOW" "" "" "0000310941" "00198" "00419660" "02300" "Familial, autosomal dominant" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311244" "05093" "00419998" "00006" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "cancer" "" ## Screenings ## Do not remove or alter this header ## ## Count = 132 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000101085" "00100661" "1" "00000" "00006" "2011-08-22 15:43:00" "" "" "SEQ" "DNA" "" "" "0000101086" "00100662" "1" "00000" "00006" "2011-08-22 15:43:00" "" "" "SEQ" "DNA" "" "" "0000101087" "00100663" "1" "00000" "00006" "2011-08-22 15:43:00" "" "" "SEQ" "DNA" "" "" "0000101088" "00100664" "1" "00000" "00006" "2011-08-22 15:43:00" "" "" "SEQ" "DNA" "" "" "0000101089" "00100665" "1" "00000" "00006" "2011-08-22 15:43:00" "" "" "SEQ" "DNA" "" "" "0000101090" "00100666" "1" "00000" "00006" "2011-08-22 15:43:00" "" "" "SEQ" "DNA" "" "" "0000101091" "00100667" "1" "00000" "00006" "2011-08-22 15:43:00" "" "" "SEQ" "DNA" "" "" "0000101092" "00100668" "1" "01933" "01933" "2011-08-23 19:45:10" "01933" "2014-07-18 22:53:27" "SEQ" "DNA" "" "" "0000101093" "00100669" "1" "01933" "01933" "2011-08-23 19:53:52" "01933" "2013-07-29 23:30:40" "SEQ" "DNA" "" "" "0000101094" "00100670" "1" "01933" "01933" "2011-08-23 20:01:36" "01933" "2014-07-18 21:59:45" "SEQ" "DNA" "" "" "0000101095" "00100671" "1" "01933" "01933" "2011-08-23 20:31:25" "01933" "2014-09-27 01:11:59" "SEQ" "DNA" "" "" "0000101096" "00100672" "1" "01933" "01933" "2011-08-23 20:44:05" "01933" "2014-07-18 22:54:48" "SEQ" "DNA" "" "" "0000101097" "00100673" "1" "01933" "01933" "2011-08-23 20:47:11" "01933" "2014-07-18 21:53:09" "SEQ" "DNA" "" "" "0000101098" "00100674" "1" "01933" "01933" "2011-08-23 20:51:59" "01933" "2014-07-18 21:43:00" "SEQ" "DNA" "" "" "0000101099" "00100675" "1" "01933" "01933" "2011-08-23 23:57:12" "01933" "2014-07-18 21:29:08" "SEQ" "DNA" "" "" "0000101100" "00100676" "1" "01933" "01933" "2011-08-24 00:02:48" "01933" "2014-07-18 22:06:32" "SEQ" "DNA" "" "" "0000101101" "00100677" "1" "01933" "01933" "2011-08-24 00:06:47" "01933" "2014-07-18 23:11:59" "SEQ" "DNA" "" "" "0000101102" "00100678" "1" "01933" "01933" "2011-08-24 00:11:20" "01933" "2014-07-18 22:08:28" "SEQ" "DNA" "" "" "0000101103" "00100679" "1" "01933" "01933" "2011-08-24 00:14:38" "01933" "2014-07-18 22:09:40" "SEQ" "DNA" "" "" "0000101104" "00100680" "1" "01933" "01933" "2011-08-24 00:21:44" "01933" "2014-07-18 20:52:51" "SEQ" "DNA" "" "" "0000101105" "00100681" "1" "01933" "01933" "2011-08-24 00:23:58" "01933" "2014-07-18 21:13:27" "SEQ" "DNA" "" "" "0000101106" "00100682" "1" "00000" "00006" "2011-08-24 23:07:33" "" "" "SEQ" "DNA" "" "" "0000101107" "00100683" "1" "00000" "00006" "2011-08-24 23:07:33" "" "" "SEQ" "DNA" "" "" "0000101108" "00100684" "1" "00000" "00006" "2011-08-24 23:07:33" "" "" "SEQ" "DNA" "" "" "0000101109" "00100685" "1" "00000" "00006" "2011-08-24 23:07:33" "" "" "SEQ" "DNA" "" "" "0000101110" "00100686" "1" "01933" "01933" "2012-08-24 00:38:04" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000101111" "00100687" "1" "01933" "01933" "2013-07-29 23:12:29" "01933" "2014-07-18 22:13:47" "MLPA;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000101112" "00100688" "1" "01933" "01933" "2014-07-18 21:40:19" "01933" "2014-07-18 21:41:18" "SEQ" "DNA" "" "" "0000101113" "00100689" "1" "01933" "01933" "2014-07-18 21:49:18" "" "" "SEQ" "DNA" "" "" "0000101114" "00100690" "1" "01933" "01933" "2014-07-18 21:52:16" "" "" "SEQ" "DNA" "" "" "0000101115" "00100691" "1" "01933" "01933" "2014-07-18 21:56:46" "" "" "SEQ" "DNA" "" "" "0000101116" "00100692" "1" "01933" "01933" "2014-07-18 21:59:00" "" "" "SEQ" "DNA" "" "" "0000101117" "00100693" "1" "01933" "01933" "2014-07-18 22:05:10" "" "" "SEQ" "DNA" "" "" "0000101118" "00100694" "1" "01933" "01933" "2014-07-18 22:12:39" "" "" "SEQ" "DNA" "" "" "0000101119" "00100695" "1" "01933" "01933" "2014-07-18 22:17:21" "" "" "SEQ" "DNA" "" "" "0000101120" "00100696" "1" "01933" "01933" "2014-07-18 22:44:07" "" "" "SEQ" "DNA" "" "" "0000101121" "00100697" "1" "01933" "01933" "2014-07-18 22:46:58" "" "" "SEQ" "DNA" "" "" "0000101122" "00100698" "1" "01933" "01933" "2014-07-18 22:49:08" "" "" "SEQ" "DNA" "" "" "0000101123" "00100699" "1" "01933" "01933" "2014-07-18 22:51:35" "" "" "SEQ" "DNA" "" "" "0000101124" "00100700" "1" "01933" "01933" "2014-07-18 23:00:29" "" "" "SEQ" "DNA" "" "" "0000101125" "00100701" "1" "01933" "01933" "2014-07-18 23:04:01" "" "" "SEQ" "DNA" "" "" "0000101126" "00100702" "1" "01933" "01933" "2014-07-18 23:07:00" "" "" "SEQ" "DNA" "" "" "0000101127" "00100703" "1" "01933" "01933" "2014-07-18 23:08:58" "" "" "SEQ" "DNA" "" "" "0000101128" "00100704" "1" "01933" "01933" "2014-07-18 23:11:09" "" "" "SEQ" "DNA" "" "" "0000101129" "00100705" "1" "01933" "01933" "2014-07-18 23:14:41" "" "" "SEQ" "DNA" "" "" "0000101130" "00100706" "1" "01933" "01933" "2014-07-18 23:16:30" "01933" "2014-07-18 23:17:08" "SEQ" "DNA" "" "" "0000101131" "00100707" "1" "01933" "01933" "2014-07-18 23:19:05" "" "" "SEQ" "DNA" "" "" "0000101132" "00100708" "1" "01933" "01933" "2014-09-26 18:18:57" "" "" "SEQ" "DNA" "" "" "0000101133" "00100709" "1" "01933" "01933" "2014-09-26 18:22:37" "" "" "SEQ" "DNA" "" "" "0000101134" "00100710" "1" "01933" "01933" "2014-09-26 18:25:31" "" "" "SEQ" "DNA" "" "" "0000101135" "00100711" "1" "01933" "01933" "2014-09-26 18:28:41" "" "" "SEQ" "DNA" "" "" "0000101136" "00100712" "1" "01933" "01933" "2014-09-26 18:31:12" "" "" "SEQ" "DNA" "" "" "0000101137" "00100713" "1" "01933" "01933" "2014-09-26 18:36:34" "" "" "SEQ" "DNA" "" "" "0000101138" "00100714" "1" "01933" "01933" "2014-09-26 18:40:55" "" "" "SEQ" "DNA" "" "" "0000101139" "00100715" "1" "01933" "01933" "2014-09-26 19:31:35" "" "" "SEQ" "DNA" "" "" "0000101140" "00100716" "1" "01933" "01933" "2014-09-26 19:35:53" "" "" "SEQ" "DNA" "" "" "0000101141" "00100717" "1" "01933" "01933" "2014-09-26 19:38:48" "" "" "SEQ" "DNA" "" "" "0000101142" "00100718" "1" "01933" "01933" "2014-09-26 19:40:35" "" "" "SEQ" "DNA" "" "" "0000101143" "00100719" "1" "01933" "01933" "2014-09-26 19:42:21" "" "" "SEQ" "DNA" "" "" "0000101144" "00100720" "1" "01933" "01933" "2014-09-26 19:44:18" "" "" "SEQ" "DNA" "" "" "0000101145" "00100721" "1" "01933" "01933" "2014-09-26 19:46:00" "" "" "SEQ" "DNA" "" "" "0000101146" "00100722" "1" "01933" "01933" "2014-09-26 19:48:06" "" "" "SEQ" "DNA" "" "" "0000101147" "00100723" "1" "01933" "01933" "2014-09-26 19:50:01" "" "" "SEQ" "DNA" "" "" "0000101148" "00100724" "1" "01933" "01933" "2014-09-26 19:51:55" "" "" "SEQ" "DNA" "" "" "0000101149" "00100725" "1" "01933" "01933" "2014-09-26 19:53:39" "" "" "SEQ" "DNA" "" "" "0000101150" "00100726" "1" "01933" "01933" "2014-09-26 20:17:18" "" "" "SEQ" "DNA" "" "" "0000101151" "00100727" "1" "01933" "01933" "2014-09-26 20:19:00" "" "" "SEQ" "DNA" "" "" "0000101152" "00100728" "1" "01933" "01933" "2014-09-26 20:21:00" "" "" "SEQ" "DNA" "" "" "0000101153" "00100729" "1" "01933" "01933" "2014-09-26 20:26:30" "" "" "SEQ" "DNA" "" "" "0000101154" "00100730" "1" "01933" "01933" "2014-09-26 20:28:06" "" "" "SEQ" "DNA" "" "" "0000101155" "00100731" "1" "01933" "01933" "2014-09-26 20:29:49" "" "" "SEQ" "DNA" "" "" "0000101156" "00100732" "1" "01933" "01933" "2014-09-26 20:32:29" "" "" "SEQ" "DNA" "" "" "0000101157" "00100733" "1" "00000" "01933" "2014-09-26 23:26:00" "" "" "SEQ" "DNA" "" "" "0000101158" "00100734" "1" "00000" "01933" "2014-09-26 23:27:53" "" "" "SEQ" "DNA" "" "" "0000101159" "00100735" "1" "00000" "01933" "2014-09-26 23:58:08" "" "" "SEQ" "DNA" "" "" "0000101160" "00100736" "1" "00000" "01933" "2014-09-27 00:01:00" "" "" "SEQ" "DNA" "" "" "0000101161" "00100737" "1" "00000" "01933" "2014-09-27 00:04:37" "" "" "SEQ" "DNA" "" "" "0000101162" "00100738" "1" "00000" "01933" "2014-09-27 00:07:47" "" "" "SEQ" "DNA" "" "" "0000101163" "00100739" "1" "00000" "01933" "2014-09-27 00:10:12" "" "" "SEQ" "DNA" "" "" "0000101164" "00100740" "1" "00000" "01933" "2014-09-27 00:13:44" "" "" "SEQ" "DNA" "" "" "0000101165" "00100741" "1" "00000" "01933" "2014-09-27 00:16:10" "" "" "SEQ" "DNA" "" "" "0000101166" "00100742" "1" "00000" "01933" "2014-09-27 00:19:14" "" "" "SEQ" "DNA" "" "" "0000101167" "00100743" "1" "00000" "01933" "2014-09-27 00:23:42" "" "" "SEQ" "DNA" "" "" "0000101168" "00100744" "1" "00000" "01933" "2014-09-27 00:29:09" "" "" "SEQ" "DNA" "" "" "0000101169" "00100745" "1" "00000" "01933" "2014-09-27 00:35:30" "" "" "SEQ" "DNA" "" "" "0000101170" "00100746" "1" "00000" "01933" "2014-09-27 00:43:16" "" "" "SEQ" "DNA" "" "" "0000101171" "00100747" "1" "00000" "01933" "2014-09-27 00:46:10" "" "" "SEQ" "DNA" "" "" "0000101172" "00100748" "1" "00000" "01933" "2014-09-27 00:49:03" "" "" "SEQ" "DNA" "" "" "0000101173" "00100749" "1" "00000" "01933" "2014-09-27 00:54:24" "01933" "2014-09-28 06:18:12" "SEQ" "DNA" "" "" "0000101174" "00100750" "1" "00000" "01933" "2014-09-27 00:59:34" "" "" "SEQ" "DNA" "" "" "0000101175" "00100751" "1" "01933" "01933" "2015-11-04 21:47:50" "01933" "2015-11-04 22:39:55" "SEQ" "DNA" "" "" "0000101176" "00100752" "1" "01933" "01933" "2015-11-04 21:51:10" "" "" "SEQ" "DNA" "" "" "0000101177" "00100753" "1" "01933" "01933" "2015-11-04 21:53:46" "" "" "SEQ" "DNA" "" "" "0000101178" "00100754" "1" "01933" "01933" "2015-11-04 21:56:58" "" "" "SEQ" "DNA" "" "" "0000101179" "00100755" "1" "01933" "01933" "2015-11-04 21:59:04" "" "" "SEQ" "DNA" "" "" "0000101180" "00100756" "1" "01933" "01933" "2015-11-04 22:02:02" "" "" "SEQ" "DNA" "" "" "0000101181" "00100757" "1" "01933" "01933" "2015-11-04 22:05:00" "" "" "SEQ" "DNA" "" "" "0000101182" "00100758" "1" "01933" "01933" "2015-11-04 22:09:46" "" "" "SEQ" "DNA" "" "" "0000101183" "00100759" "1" "01933" "01933" "2015-11-04 22:12:21" "" "" "SEQ" "DNA" "" "" "0000101184" "00100760" "1" "01933" "01933" "2015-11-04 22:24:48" "" "" "SEQ" "DNA" "" "" "0000101185" "00100761" "1" "01933" "01933" "2015-11-04 22:27:41" "" "" "SEQ" "DNA" "" "" "0000101186" "00100762" "1" "01933" "01933" "2015-11-04 22:29:45" "" "" "SEQ" "DNA" "" "" "0000101187" "00100763" "1" "01933" "01933" "2015-11-04 22:31:37" "" "" "SEQ" "DNA" "" "" "0000101188" "00100764" "1" "01933" "01933" "2015-11-04 23:09:24" "" "" "SEQ" "DNA" "" "" "0000101189" "00100765" "1" "01933" "01933" "2015-11-04 23:12:23" "" "" "SEQ" "DNA" "" "" "0000101190" "00100766" "1" "01933" "01933" "2015-11-04 23:22:16" "01933" "2015-11-05 00:37:35" "SEQ" "DNA" "" "" "0000101191" "00100767" "1" "01933" "01933" "2015-11-04 23:25:23" "" "" "SEQ" "DNA" "" "" "0000101192" "00100768" "1" "01933" "01933" "2015-11-04 23:27:41" "" "" "SEQ" "DNA" "" "" "0000101193" "00100769" "1" "01933" "01933" "2015-11-04 23:30:15" "" "" "SEQ" "DNA" "" "" "0000101194" "00100770" "1" "01933" "01933" "2015-11-04 23:32:39" "" "" "SEQ" "DNA" "" "" "0000101195" "00100771" "1" "01933" "01933" "2015-11-04 23:40:23" "" "" "SEQ" "DNA" "" "" "0000101196" "00100772" "1" "01933" "01933" "2015-11-04 23:43:40" "01933" "2015-11-05 17:56:58" "SEQ" "DNA" "" "" "0000101197" "00100773" "1" "01933" "01933" "2015-11-04 23:48:24" "" "" "SEQ" "DNA" "" "" "0000101198" "00100774" "1" "01933" "01933" "2015-11-04 23:54:38" "01933" "2015-11-05 00:32:14" "SEQ" "DNA" "" "" "0000101199" "00100775" "1" "01933" "01933" "2015-11-04 23:58:17" "01933" "2015-11-05 00:17:09" "SEQ" "DNA" "" "" "0000101200" "00100776" "1" "01933" "01933" "2015-11-05 00:01:37" "" "" "SEQ" "DNA" "" "" "0000101201" "00100777" "1" "01933" "01933" "2015-11-05 00:04:34" "" "" "SEQ" "DNA" "" "" "0000101202" "00100778" "1" "01933" "01933" "2015-11-05 01:37:34" "" "" "SEQ" "DNA" "" "" "0000101203" "00100779" "1" "01933" "01933" "2015-11-05 01:40:08" "" "" "SEQ" "DNA" "" "" "0000247623" "00246511" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000267605" "00266479" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000267607" "00266481" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000267611" "00266485" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000296671" "00295503" "1" "01164" "01164" "2020-03-12 11:13:27" "" "" "SEQ-NG-S" "DNA" "" "" "0000296764" "00295594" "1" "01164" "01164" "2020-03-18 10:49:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000297153" "00295982" "1" "01164" "01164" "2020-04-01 11:00:21" "" "" "SEQ-NG-S" "DNA" "" "" "0000308404" "00307262" "1" "03753" "03753" "2020-08-07 04:11:37" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000355171" "00353941" "1" "02551" "02551" "2021-03-11 12:55:01" "" "" "SEQ" "DNA" "" "" "0000400969" "00399726" "1" "00006" "00006" "2022-01-22 17:08:08" "" "" "arrayCGH;SEQ" "DNA" "" "WES" "0000420964" "00419660" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421304" "00419998" "1" "00006" "00006" "2022-10-30 10:00:17" "" "" "SEQ;SEQ-NG" "DNA" "" "cancer gene panel" "0000462582" "00460950" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 122 "{{screeningid}}" "{{geneid}}" "0000101085" "DICER1" "0000101086" "DICER1" "0000101087" "DICER1" "0000101088" "DICER1" "0000101089" "DICER1" "0000101090" "DICER1" "0000101091" "DICER1" "0000101092" "DICER1" "0000101093" "DICER1" "0000101094" "DICER1" "0000101095" "DICER1" "0000101096" "DICER1" "0000101097" "DICER1" "0000101098" "DICER1" "0000101099" "DICER1" "0000101100" "DICER1" "0000101101" "DICER1" "0000101102" "DICER1" "0000101103" "DICER1" "0000101104" "DICER1" "0000101105" "DICER1" "0000101106" "DICER1" "0000101107" "DICER1" "0000101108" "DICER1" "0000101109" "DICER1" "0000101110" "DICER1" "0000101111" "DICER1" "0000101112" "DICER1" "0000101113" "DICER1" "0000101114" "DICER1" "0000101115" "DICER1" "0000101116" "DICER1" "0000101117" "DICER1" "0000101118" "DICER1" "0000101119" "DICER1" "0000101120" "DICER1" "0000101121" "DICER1" "0000101122" "DICER1" "0000101123" "DICER1" "0000101124" "DICER1" "0000101125" "DICER1" "0000101126" "DICER1" "0000101127" "DICER1" "0000101128" "DICER1" "0000101129" "DICER1" "0000101130" "DICER1" "0000101131" "DICER1" "0000101132" "DICER1" "0000101133" "DICER1" "0000101134" "DICER1" "0000101135" "DICER1" "0000101136" "DICER1" "0000101137" "DICER1" "0000101138" "DICER1" "0000101139" "DICER1" "0000101140" "DICER1" "0000101141" "DICER1" "0000101142" "DICER1" "0000101143" "DICER1" "0000101144" "DICER1" "0000101145" "DICER1" "0000101146" "DICER1" "0000101147" "DICER1" "0000101148" "DICER1" "0000101149" "DICER1" "0000101150" "DICER1" "0000101151" "DICER1" "0000101152" "DICER1" "0000101153" "DICER1" "0000101154" "DICER1" "0000101155" "DICER1" "0000101156" "DICER1" "0000101157" "DICER1" "0000101158" "DICER1" "0000101159" "DICER1" "0000101160" "DICER1" "0000101161" "DICER1" "0000101162" "DICER1" "0000101163" "DICER1" "0000101164" "DICER1" "0000101165" "DICER1" "0000101166" "DICER1" "0000101167" "DICER1" "0000101168" "DICER1" "0000101169" "DICER1" "0000101170" "DICER1" "0000101171" "DICER1" "0000101172" "DICER1" "0000101173" "DICER1" "0000101174" "DICER1" "0000101175" "DICER1" "0000101176" "DICER1" "0000101177" "DICER1" "0000101178" "DICER1" "0000101179" "DICER1" "0000101180" "DICER1" "0000101181" "DICER1" "0000101182" "DICER1" "0000101183" "DICER1" "0000101184" "DICER1" "0000101185" "DICER1" "0000101186" "DICER1" "0000101187" "DICER1" "0000101188" "DICER1" "0000101189" "DICER1" "0000101190" "DICER1" "0000101191" "DICER1" "0000101192" "DICER1" "0000101193" "DICER1" "0000101194" "DICER1" "0000101195" "DICER1" "0000101196" "DICER1" "0000101197" "DICER1" "0000101198" "DICER1" "0000101199" "DICER1" "0000101200" "DICER1" "0000101201" "DICER1" "0000101202" "DICER1" "0000101203" "DICER1" "0000247623" "DICER1" "0000400969" "DICER1" "0000462582" "DICER1" ## 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 = 308 "{{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}}" "0000163589" "0" "95" "14" "95597946" "95597956" "dup" "0" "00000" "DICER1_000068" "g.95597946_95597956dup" "" "{PMID:Pugh 2014:24909177}" "" "" "" "Germline" "" "" "0" "" "" "g.95131609_95131619dup" "" "pathogenic" "" "0000163590" "1" "95" "14" "95596409" "95596409" "subst" "0" "01933" "DICER1_000050" "g.95596409G>A" "" "{PMID:Brenneman 2015:26925222}" "" "" "" "Germline" "" "" "0" "" "" "g.95130072G>A" "" "pathogenic" "" "0000163591" "0" "95" "14" "95593075" "95593075" "subst" "0" "01933" "DICER1_000099" "g.95593075G>A" "" "{PMID:Rio Frio 2011:21205968}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95126738G>A" "" "pathogenic" "" "0000163592" "21" "95" "14" "95592946" "95592949" "del" "0" "01933" "DICER1_000014" "g.95592946_95592949del" "" "{PMID:Foulkes 2011:21882293}; {PMID:Wu 2013:23620094}" "" "" "variant allele subject to nonsense-mediated decay, no variant mRNA detected in untreated cells." "Germline" "" "" "0" "" "" "g.95126609_95126612del" "" "pathogenic" "" "0000163593" "21" "95" "14" "95590992" "95590999" "dup" "0" "01933" "DICER1_000025" "g.95590992_95590999dup" "" "{PMID:Sabbaghian 2012:22717647}" "" "" "" "Germline" "" "" "0" "" "" "g.95124655_95124662dup" "" "pathogenic" "" "0000163594" "1" "95" "14" "95590780" "95590784" "del" "0" "01933" "DICER1_000026" "g.95590780_95590784del" "" "Submitted by Erasmus MC" "" "" "" "Germline" "" "" "0" "" "" "g.95124443_95124447del" "" "pathogenic" "" "0000163595" "0" "75" "14" "95590765" "95590765" "subst" "0" "01933" "DICER1_000084" "g.95590765C>A" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95124428C>A" "" "likely pathogenic" "" "0000163596" "0" "95" "14" "95590756" "95590756" "del" "0" "00000" "DICER1_000069" "g.95590756del" "" "{PMID:Brenneman 2015:26925222}" "" "" "" "Germline" "" "" "0" "" "" "g.95124419del" "" "pathogenic" "" "0000163597" "0" "95" "14" "95590735" "95590744" "dup" "0" "01933" "DICER1_000097" "g.95590735_95590744dup" "" "{PMID:Slade 2011:21266384}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95124398_95124407dup" "" "pathogenic" "" "0000163598" "0" "95" "14" "95590713" "95590714" "dup" "0" "00000" "DICER1_000070" "g.95590713_95590714dup" "" "{PMID:de Kock 2015:25836323}" "" "" "" "Germline" "" "" "0" "" "" "g.95124376_95124377dup" "" "pathogenic" "" "0000163599" "0" "95" "14" "95590713" "95590714" "dup" "0" "01933" "DICER1_000070" "g.95590713_95590714dup" "" "Submitted by Erasmus MC" "" "" "" "Germline" "" "" "0" "" "" "g.95124376_95124377dup" "" "pathogenic" "" "0000163600" "0" "75" "14" "95590711" "95590711" "dup" "0" "01933" "DICER1_000085" "g.95590711dup" "" "{PMID:de Kock 2014:24839956}" "" "" "" "Germline" "" "" "0" "" "" "g.95124374dup" "" "likely pathogenic" "" "0000163601" "1" "95" "14" "95590625" "95590625" "del" "0" "01933" "DICER1_000028" "g.95590625del" "" "{PMID:Foulkes 2011:21882293}; {PMID:Wu 2013:23620094}" "" "" "" "Germline" "" "" "0" "" "" "g.95124288del" "" "pathogenic" "" "0000163602" "1" "95" "14" "95590604" "95590604" "dup" "0" "01933" "DICER1_000013" "g.95590604dup" "" "{PMID:Schultz 2011:21501861}" "" "" "" "Germline" "" "" "0" "" "" "g.95124267dup" "" "pathogenic" "" "0000163603" "1" "95" "14" "95590532" "95590532" "subst" "0" "01933" "DICER1_000059" "g.95590532C>A" "" "{PMID:Seki 2014:24675358}" "" "" "[exon 8 skip, fs]" "Germline" "" "" "0" "" "" "g.95124195C>A" "" "pathogenic" "" "0000163604" "1" "95" "14" "95584082" "95584085" "del" "0" "01933" "DICER1_000063" "g.95584082_95584085del" "" "{PMID:de Kock 2014:25022261}" "" "" "" "Germline" "" "" "0" "" "" "g.95117745_95117748del" "" "pathogenic" "" "0000163605" "1" "95" "14" "95583970" "95583970" "subst" "0" "01933" "DICER1_000029" "g.95583970T>A" "" "Submitted by Erasmus MC" "" "" "" "Germline" "" "" "0" "" "" "g.95117633T>A" "" "pathogenic" "" "0000163606" "0" "75" "14" "95583970" "95583970" "subst" "0" "01933" "DICER1_000029" "g.95583970T>A" "" "{PMID:Hill 2009:19556464}" "" "" "" "Germline" "" "" "0" "" "" "g.95117633T>A" "" "likely pathogenic" "" "0000163607" "1" "95" "14" "95583961" "95583961" "subst" "0" "00000" "DICER1_000001" "g.95583961C>A" "" "Submitted by Erasmus MC" "" "" "variant RNA reduced; mapped by linkage" "Germline" "" "" "0" "" "" "g.95117624C>A" "" "pathogenic" "" "0000163608" "0" "55" "14" "95583959" "95583959" "subst" "0" "01933" "DICER1_000086" "g.95583959C>T" "" "{PMID:de Kock 2014:24839956}" "" "" "Predicted effect on splicing by in silico modeling" "Germline" "" "" "0" "" "" "g.95117622C>T" "" "VUS" "" "0000163609" "1" "95" "14" "95583017" "95583017" "subst" "0" "01933" "DICER1_000030" "g.95583017G>A" "" "{PMID:Oost 2015:25844550}" "" "" "" "Germline" "" "" "0" "" "" "g.95116680G>A" "" "pathogenic" "" "0000163610" "0" "95" "14" "95583009" "95583010" "del" "0" "01933" "DICER1_000108" "g.95583009_95583010del" "" "{PMID:Hill 2009:19556464}" "" "" "" "Germline" "" "" "0" "" "" "g.95116672_95116673del" "" "pathogenic" "" "0000163611" "1" "95" "14" "95582912" "95582912" "subst" "0" "00000" "DICER1_000006" "g.95582912G>A" "" "{PMID:Hill 2009:19556464}" "" "" "" "Germline" "" "" "0" "" "" "g.95116575G>A" "" "pathogenic" "" "0000163612" "0" "95" "14" "95582857" "95582858" "del" "0" "00000" "DICER1_000023" "g.95582857_95582858del" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95116520_95116521del" "" "pathogenic" "" "0000163613" "0" "95" "14" "95582829" "95582829" "del" "0" "00000" "DICER1_000071" "g.95582829del" "" "{PMID:Brenneman 2015:26925222}" "" "" "" "Germline" "" "" "0" "" "" "g.95116492del" "" "pathogenic" "" "0000163614" "0" "95" "14" "95582829" "95582829" "del" "0" "01933" "DICER1_000101" "g.95582829del" "" "{PMID:Murray 2014:24513630}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95116492del" "" "pathogenic" "" "0000163615" "1" "95" "14" "95582106" "95582110" "dup" "0" "01933" "DICER1_000049" "g.95582106_95582110dup" "" "{PMID:Hill 2009:19556464}" "" "" "" "Germline" "" "" "0" "" "" "g.95115769_95115773dup" "" "pathogenic" "" "0000163616" "0" "95" "14" "95579559" "95579559" "dup" "0" "00000" "DICER1_000008" "g.95579559dup" "" "{PMID:Hill 2009:19556464}" "" "" "" "Germline" "" "" "0" "" "" "g.95113222dup" "" "pathogenic" "" "0000163617" "1" "95" "14" "95579503" "95579503" "subst" "4.0627E-6" "00000" "DICER1_000002" "g.95579503G>A" "" "{PMID:Foulkes 2011:21882293}" "" "" "" "Germline" "" "" "0" "" "" "g.95113166G>A" "" "pathogenic" "" "0000163618" "11" "95" "14" "95579503" "95579503" "subst" "4.0627E-6" "01933" "DICER1_000002" "g.95579503G>A" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95113166G>A" "" "pathogenic" "" "0000163619" "0" "95" "14" "95579503" "95579503" "subst" "4.0627E-6" "00000" "DICER1_000002" "g.95579503G>A" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95113166G>A" "" "pathogenic" "" "0000163620" "0" "95" "14" "95579503" "95579503" "subst" "4.0627E-6" "00000" "DICER1_000002" "g.95579503G>A" "" "{PMID:de Kock 2014:24839956}" "" "" "" "Germline" "" "" "0" "" "" "g.95113166G>A" "" "pathogenic" "" "0000163621" "1" "95" "14" "95579443" "95579443" "subst" "0" "01933" "DICER1_000031" "g.95579443G>A" "" "{PMID:de Kock 2014:24839956}" "" "" "" "Germline" "" "" "0" "" "" "g.95113106G>A" "" "pathogenic" "" "0000163622" "1" "95" "14" "95579443" "95579443" "subst" "0" "01933" "DICER1_000031" "g.95579443G>A" "" "{PMID:Pugh 2014:24909177}" "" "" "" "Germline" "" "" "0" "" "" "g.95113106G>A" "" "pathogenic" "" "0000163623" "1" "95" "14" "95579428" "95579428" "subst" "0" "01933" "DICER1_000051" "g.95579428C>A" "" "{PMID:Slade 2011:21266384}" "" "" "[exon 12 skip, fs]" "Germline" "" "" "0" "" "" "g.95113091C>A" "" "pathogenic" "" "0000163624" "0" "95" "14" "95579428" "95579428" "subst" "0" "00000" "DICER1_000051" "g.95579428C>A" "" "{PMID:Foulkes 2011:21882293}; {PMID:Wu 2013:23620094}" "" "" "[exon 12 skip, fs]" "Germline" "" "" "0" "" "" "g.95113091C>A" "" "pathogenic" "" "0000163625" "21" "95" "14" "95577794" "95577794" "subst" "0" "01933" "DICER1_000010" "g.95577794C>T" "" "Submitted by Erasmus MC" "" "" "Nonsense-mediated decay of the mutated RNA was confirmed. No mutant RNA observed in untreated cells." "Germline" "" "" "0" "" "" "g.95111457C>T" "" "pathogenic" "" "0000163626" "0" "75" "14" "95577677" "95577677" "subst" "0" "01933" "DICER1_000087" "g.95577677G>A" "" "{PMID:Brenneman 2015:26925222}" "" "" "" "Germline" "" "" "0" "" "" "g.95111340G>A" "" "likely pathogenic" "" "0000163627" "0" "95" "14" "95577674" "95577674" "subst" "0" "01933" "DICER1_000100" "g.95577674T>C" "" "{PMID:Hill 2009:19556464}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95111337T>C" "" "pathogenic" "" "0000163628" "0" "95" "14" "95577663" "95577666" "dup" "0" "00000" "DICER1_000024" "g.95577663_95577666dup" "" "{PMID:Schultz 2011:21501861}" "" "" "variant RNA reduced" "Germline" "" "" "0" "" "" "g.95111326_95111329dup" "" "pathogenic" "" "0000163629" "1" "95" "14" "95577666" "95577667" "ins" "0" "01933" "DICER1_000060" "g.95577666_95577667insTTAG" "" "{PMID:Hill 2009:19556464}" "" "" "" "Germline" "" "" "0" "" "" "g.95111329_95111330insTTAG" "" "pathogenic" "" "0000163630" "1" "95" "14" "95577663" "95577663" "subst" "0" "00000" "DICER1_000005" "g.95577663G>T" "" "Submitted by Erasmus MC" "" "" "variant RNA reduced; mapped by linkage" "Germline" "" "" "0" "" "" "g.95111326G>T" "" "pathogenic" "" "0000163631" "0" "75" "14" "95577653" "95577653" "subst" "0" "01933" "DICER1_000088" "g.95577653C>G" "" "Submitted by Erasmus MC" "" "" "Putative splice defect" "Germline" "" "" "0" "" "" "g.95111316C>G" "" "likely pathogenic" "" "0000163632" "0" "55" "14" "95574847" "95574847" "subst" "0" "01933" "DICER1_000089" "g.95574847T>C" "" "{PMID:Slade 2011:21266384}" "" "" "Predicted effect on splicing by in silico modeling" "Germline" "" "" "0" "" "" "g.95108510T>C" "" "VUS" "" "0000163633" "0" "95" "14" "95574828" "95574831" "del" "0" "00000" "DICER1_000072" "g.95574828_95574831del" "" "{PMID:de Kock 2014:24617712}" "" "" "" "Germline" "" "" "0" "" "" "g.95108491_95108494del" "" "pathogenic" "" "0000163634" "1" "95" "14" "95574718" "95574718" "subst" "0" "01933" "DICER1_000032" "g.95574718A>C" "" "{PMID:Hill 2009:19556464}" "" "" "Nonsense-mediated decay of the mutated RNA was confirmed. No mutant RNA is detected in untreated cells." "Germline" "" "" "0" "" "" "g.95108381A>C" "" "pathogenic" "" "0000163635" "0" "95" "14" "95574705" "95574705" "dup" "0" "00000" "DICER1_000021" "g.95574705dup" "" "Submitted by Erasmus MC" "" "" "variant RNA reduced; mapped by linkage" "Germline" "" "" "0" "" "" "g.95108368dup" "" "pathogenic" "" "0000163636" "0" "75" "14" "95574418" "95574418" "del" "0" "01933" "DICER1_000090" "g.95574418del" "" "{PMID:Rio Frio 2011:21205968}; {PMID:Heravi-Moussavi 2012:22187960}" "" "" "" "Germline" "" "" "0" "" "" "g.95108081del" "" "likely pathogenic" "" "0000163637" "21" "95" "14" "95574410" "95574410" "subst" "0" "01933" "DICER1_000015" "g.95574410G>C" "" "{PMID:Rio Frio 2011:21205968}" "" "" "c.2457C>G created a new splice site, resulting in an in-frame 21 bp deletion." "Germline" "" "" "0" "" "" "g.95108073G>C" "" "pathogenic" "" "0000163638" "1" "95" "14" "95574351" "95574351" "subst" "0" "01933" "DICER1_000017" "g.95574351G>A" "" "Submitted by Erasmus MC" "" "" "variant transcript expressed" "Germline" "" "" "0" "" "" "g.95108014G>A" "" "pathogenic" "" "0000163639" "0" "75" "14" "95574004" "95574004" "del" "0" "01933" "DICER1_000091" "g.95574004del" "" "{PMID:Rio Frio 2011:21205968}" "" "" "" "Germline" "" "" "0" "" "" "g.95107667del" "" "likely pathogenic" "" "0000163640" "1" "95" "14" "95572561" "95572561" "subst" "0" "01933" "DICER1_000018" "g.95572561C>A" "" "{PMID:Heravi-Moussavi 2012:22187960}" "" "" "splice variant causes in-frame deletion exon 18; variant transcript expressed" "Germline" "" "" "0" "" "" "g.95106224C>A" "" "pathogenic" "" "0000163641" "1" "95" "14" "95572541" "95572541" "del" "0" "01933" "DICER1_000033" "g.95572541del" "" "{PMID:Hill 2009:19556464}" "" "" "" "Germline" "" "" "0" "" "" "g.95106204del" "" "pathogenic" "" "0000163642" "1" "95" "14" "95572535" "95572535" "subst" "0" "00000" "DICER1_000007" "g.95572535G>A" "" "{PMID:Seki 2014:24675358}" "" "" "" "Germline" "" "" "0" "" "" "g.95106198G>A" "" "pathogenic" "" "0000163643" "1" "95" "14" "95572502" "95572502" "dup" "0" "01933" "DICER1_000064" "g.95572502dup" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95106165dup" "" "pathogenic" "" "0000163644" "0" "95" "14" "95572121" "95572122" "inv" "0" "00000" "DICER1_000073" "g.95572121_95572122inv" "" "{PMID:Sahakitrungruang 2014:24823459}" "" "" "[exon 19 skip, fs]" "Germline" "" "" "0" "" "" "g.95105784_95105785inv" "" "pathogenic" "" "0000163645" "1" "95" "14" "95572062" "95572062" "del" "0" "01933" "DICER1_000058" "g.95572062del" "" "{PMID:Schultz 2011:21501861}" "" "" "" "Germline" "" "" "0" "" "" "g.95105725del" "" "pathogenic" "" "0000163646" "1" "95" "14" "95572035" "95572035" "subst" "0" "01933" "DICER1_000061" "g.95572035C>A" "" "{PMID:Schultz 2011:21501861}" "" "" "" "Germline" "" "" "0" "" "" "g.95105698C>A" "" "pathogenic" "" "0000163647" "1" "95" "14" "95572035" "95572035" "subst" "0" "01933" "DICER1_000061" "g.95572035C>A" "" "{PMID:Sabbaghian 2014:24065110}" "" "" "" "Germline" "" "" "0" "" "" "g.95105698C>A" "" "pathogenic" "" "0000163648" "21" "95" "14" "95567552" "95570469" "delins" "0" "01933" "DICER1_000027" "g.95567552_95570469delinsC" "" "{PMID:Pugh 2014:24909177}" "" "" "" "Germline" "" "" "0" "" "" "g.95101215_95104132delinsC" "" "pathogenic" "" "0000163649" "1" "95" "14" "95570460" "95570460" "subst" "0" "01933" "DICER1_000052" "g.95570460G>C" "" "{PMID:de Kock 2014:24839956}" "" "" "" "Germline" "" "" "0" "" "" "g.95104123G>C" "" "pathogenic" "" "0000163650" "1" "95" "14" "95570455" "95570458" "del" "0" "01933" "DICER1_000034" "g.95570455_95570458del" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95104118_95104121del" "" "pathogenic" "" "0000163651" "0" "95" "14" "95570444" "95570445" "dup" "0" "00000" "DICER1_000074" "g.95570444_95570445dup" "" "{PMID:Seki 2014:24675358}" "" "" "" "Germline" "" "" "0" "" "" "g.95104107_95104108dup" "" "pathogenic" "" "0000163652" "1" "95" "14" "95570254" "95570254" "del" "0" "01933" "DICER1_000065" "g.95570254del" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95103917del" "" "pathogenic" "" "0000163653" "0" "95" "14" "95570230" "95570230" "del" "0" "00000" "DICER1_000075" "g.95570230del" "" "{PMID:de Kock 2014:24617712}" "" "" "" "Germline" "" "" "0" "" "" "g.95103893del" "" "pathogenic" "" "0000163654" "1" "95" "14" "95570230" "95570230" "dup" "0" "01933" "DICER1_000035" "g.95570230dup" "" "{PMID:de Kock 2014:24839956}" "" "" "" "Germline" "" "" "0" "" "" "g.95103893dup" "" "pathogenic" "" "0000163655" "1" "95" "14" "95570199" "95570202" "del" "0" "01933" "DICER1_000036" "g.95570199_95570202del" "" "{PMID:Tomiak 2014:24151152}" "" "" "" "Germline" "" "" "0" "" "" "g.95103862_95103865del" "" "pathogenic" "" "0000163656" "1" "95" "14" "95570199" "95570202" "del" "0" "01933" "DICER1_000036" "g.95570199_95570202del" "" "{PMID:Hill 2009:19556464}" "" "" "" "Germline" "" "" "0" "" "" "g.95103862_95103865del" "" "pathogenic" "" "0000163657" "1" "95" "14" "95570193" "95570193" "subst" "0" "00000" "DICER1_000004" "g.95570193G>T" "" "{PMID:de Kock 2014:24617712}" "" "" "" "Germline" "" "" "0" "" "" "g.95103856G>T" "" "pathogenic" "" "0000163658" "1" "95" "14" "95570154" "95570155" "del" "0" "01933" "DICER1_000037" "g.95570154_95570155del" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95103817_95103818del" "" "pathogenic" "" "0000163659" "0" "95" "14" "95570152" "95570153" "del" "0" "00000" "DICER1_000076" "g.95570152_95570153del" "" "{PMID:Pugh 2014:24909177}" "" "" "" "Germline" "" "" "0" "" "" "g.95103815_95103816del" "" "pathogenic" "" "0000163660" "1" "95" "14" "95570147" "95570147" "del" "0" "01933" "DICER1_000053" "g.95570147del" "" "{PMID:Foulkes 2011:21882293}; {PMID:Heravi-Moussavi 2012:22187960}" "" "" "" "Germline" "" "" "0" "" "" "g.95103810del" "" "pathogenic" "" "0000163661" "1" "95" "14" "95570117" "95570122" "delins" "0" "01933" "DICER1_000009" "g.95570117_95570122delinsA" "" "{PMID:Rossing 2014:24708902}" "" "" "" "Germline" "" "" "0" "" "" "g.95103780_95103785delinsA" "" "pathogenic" "" "0000163662" "1" "95" "14" "95570086" "95570086" "subst" "0" "01933" "DICER1_000057" "g.95570086G>T" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95103749G>T" "" "pathogenic" "" "0000163663" "0" "95" "14" "95570070" "95570070" "del" "0" "00000" "DICER1_000077" "g.95570070del" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95103733del" "" "pathogenic" "" "0000163664" "0" "95" "14" "95570007" "95570007" "subst" "0" "00000" "DICER1_000078" "g.95570007G>T" "" "{PMID:Seki 2014:24675358}" "" "" "" "Germline" "" "" "0" "" "" "g.95103670G>T" "" "pathogenic" "" "0000163665" "1" "95" "14" "95569984" "95569984" "del" "0" "01933" "DICER1_000066" "g.95569984del" "" "{PMID:Schultz 2011:21501861}" "" "" "" "Germline" "" "" "0" "" "" "g.95103647del" "" "pathogenic" "" "0000163666" "1" "95" "14" "95569957" "95569957" "dup" "0" "01933" "DICER1_000062" "g.95569957dup" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95103620dup" "" "pathogenic" "" "0000163667" "0" "95" "14" "95569940" "95569940" "del" "0" "00000" "DICER1_000079" "g.95569940del" "" "{PMID:Foulkes 2011:21882293}; {PMID:Heravi-Moussavi 2012:22187960}" "" "" "" "Germline" "" "" "0" "" "" "g.95103603del" "" "pathogenic" "" "0000163668" "11" "95" "14" "95569827" "95569828" "del" "0" "01933" "DICER1_000022" "g.95569827_95569828del" "" "{PMID:Foulkes 2011:21882293}" "" "" "" "Germline" "" "" "0" "" "" "g.95103490_95103491del" "" "pathogenic" "" "0000163669" "11" "95" "14" "95569683" "95569683" "del" "0" "01933" "DICER1_000012" "g.95569683del" "" "{PMID:de Kock 2014:25022261}" "" "" "The mutant RNA is not detected in untreated cells." "Germline" "" "" "0" "" "" "g.95103346del" "" "pathogenic" "" "0000163670" "1" "95" "14" "95569682" "95569682" "subst" "0" "01933" "DICER1_000038" "g.95569682C>T" "" "Submitted by Erasmus MC" "" "" "RNA from this patient was not available for testing, but the effect of this mutation was demonstrated in another mutation carrier." "Germline" "" "" "0" "" "" "g.95103345C>T" "" "pathogenic" "" "0000163671" "0" "55" "14" "95566184" "95566184" "subst" "0" "01933" "DICER1_000092" "g.95566184C>T" "" "{PMID:Bahubeshi 2010:21036787}" "" "" "" "Germline" "" "" "0" "" "" "g.95099847C>T" "" "VUS" "" "0000163672" "21" "95" "14" "95562947" "95562950" "del" "0" "01933" "DICER1_000019" "g.95562947_95562950del" "" "{PMID:Doros 2012:22180160}" "" "" "" "Germline" "" "" "0" "" "" "g.95096610_95096613del" "" "pathogenic" "" "0000163673" "0" "95" "14" "95562947" "95562950" "del" "0" "01933" "DICER1_000019" "g.95562947_95562950del" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95096610_95096613del" "" "pathogenic" "" "0000163674" "0" "95" "14" "95562854" "95562857" "del" "0" "00000" "DICER1_000080" "g.95562854_95562857del" "" "{PMID:de Kock 2014:25022261}" "" "" "" "Germline" "" "" "0" "" "" "g.95096517_95096520del" "" "pathogenic" "" "0000163675" "1" "95" "14" "95562850" "95562853" "del" "0" "01933" "DICER1_000039" "g.95562850_95562853del" "" "{PMID:Pugh 2014:24909177}" "" "" "" "Germline" "" "" "0" "" "" "g.95096513_95096516del" "" "pathogenic" "" "0000163676" "1" "95" "14" "95562850" "95562853" "del" "0" "01933" "DICER1_000039" "g.95562850_95562853del" "" "{PMID:Brenneman 2015:26925222}" "" "" "" "Germline" "" "" "0" "" "" "g.95096513_95096516del" "" "pathogenic" "" "0000163677" "0" "95" "14" "95562830" "95562831" "ins" "0" "01933" "DICER1_000098" "g.95562830_95562831insA" "" "{PMID:Pugh 2014:24909177}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95096493_95096494insA" "" "pathogenic" "" "0000163678" "1" "95" "14" "95562740" "95562740" "subst" "0" "01933" "DICER1_000054" "g.95562740C>T" "" "{PMID:de Kock 2014:23868280}" "" "" "" "Germline" "" "" "0" "" "" "g.95096403C>T" "" "pathogenic" "" "0000163679" "1" "95" "14" "95562702" "95562702" "del" "0" "01933" "DICER1_000040" "g.95562702del" "" "{PMID:de Kock 2014:25022261}" "" "" "" "Germline" "" "" "0" "" "" "g.95096365del" "" "pathogenic" "" "0000163680" "1" "95" "14" "95562626" "95562626" "dup" "0" "01933" "DICER1_000041" "g.95562626dup" "" "{PMID:Hill 2009:19556464}" "" "" "" "Germline" "" "" "0" "" "" "g.95096289dup" "" "pathogenic" "" "0000163681" "1" "95" "14" "95562509" "95562509" "subst" "0" "00000" "DICER1_000003" "g.95562509A>C" "" "{PMID:de Kock 2014:25022261}" "" "" "mapped by linkage; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.95096172A>C" "" "pathogenic" "" "0000163682" "1" "95" "14" "95562503" "95562503" "subst" "0" "01933" "DICER1_000042" "g.95562503G>C" "" "{PMID:Pugh 2014:24909177}" "" "" "" "Germline" "" "" "0" "" "" "g.95096166G>C" "" "pathogenic" "" "0000163683" "1" "95" "14" "95562297" "95562298" "dup" "0" "01933" "DICER1_000055" "g.95562297_95562298dup" "" "Submitted by Erasmus MC" "" "" "" "Germline" "" "" "0" "" "" "g.95095960_95095961dup" "" "pathogenic" "" "0000163684" "0" "75" "14" "95562293" "95562294" "del" "0" "01933" "DICER1_000093" "g.95562293_95562294del" "" "Submitted by Erasmus MC" "" "" "" "Germline" "" "" "0" "" "" "g.95095956_95095957del" "" "likely pathogenic" "" "0000163685" "0" "75" "14" "95562257" "95562257" "dup" "0" "01933" "DICER1_000094" "g.95562257dup" "" "{PMID:Rio Frio 2011:21205968}; {PMID:Heravi-Moussavi 2012:22187960}" "" "" "" "Germline" "" "" "0" "" "" "g.95095920dup" "" "likely pathogenic" "" "0000163686" "21" "95" "14" "95562238" "95562241" "del" "0" "01933" "DICER1_000016" "g.95562238_95562241del" "" "{PMID:Schultz 2015:26289771}" "" "" "variant allele is subject to nonsense-mediated decay: no variant transcript was detected in untreated cells." "Germline" "" "" "0" "" "" "g.95095901_95095904del" "" "pathogenic" "" "0000163687" "0" "55" "14" "95560505" "95560505" "subst" "0" "01933" "DICER1_000096" "g.95560505C>T" "" "{PMID:Schultz 2015:26289771}" "" "" "Splicing defect predicted by in silico modeling" "Germline" "" "" "0" "" "" "g.95094168C>T" "" "VUS" "" "0000163688" "0" "55" "14" "95560505" "95560505" "subst" "0" "01933" "DICER1_000096" "g.95560505C>T" "" "{PMID:de Kock 2014:25022261}" "" "" "Splicing defect predicted by in silico modeling" "Germline" "" "" "0" "" "" "g.95094168C>T" "" "VUS" "" "0000163689" "1" "95" "14" "95560486" "95560486" "subst" "0" "01933" "DICER1_000045" "g.95560486G>T" "" "{PMID:Doros 2012:22180160}" "" "" "" "Germline" "" "" "0" "" "" "g.95094149G>T" "" "pathogenic" "" "0000163690" "1" "95" "14" "95560485" "95560485" "subst" "0" "01933" "DICER1_000046" "g.95560485G>A" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95094148G>A" "" "pathogenic" "" "0000163691" "0" "95" "14" "95560463" "95560469" "del" "0" "00000" "DICER1_000082" "g.95560463_95560469del" "" "{PMID:Brenneman 2015:26925222}" "" "" "" "Germline" "" "" "0" "" "" "g.95094126_95094132del" "" "pathogenic" "" "0000163692" "0" "95" "14" "95560464" "95560464" "subst" "0" "01933" "DICER1_000103" "g.95560464C>T" "" "{PMID:de Kock 2015:26475046}; {PMID:Brenneman 2015:26925222}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95094127C>T" "" "pathogenic" "" "0000163693" "0" "95" "14" "95560464" "95560464" "subst" "0" "01933" "DICER1_000103" "g.95560464C>T" "" "{PMID:de Kock 2014:24839956}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95094127C>T" "" "pathogenic" "" "0000163694" "1" "95" "14" "95560464" "95560464" "subst" "0" "01933" "DICER1_000043" "g.95560464C>G" "" "{PMID:Klein 2014:24676357}" "" "" "" "Germline" "" "" "0" "" "" "g.95094127C>G" "" "pathogenic" "" "0000163695" "1" "95" "14" "95560464" "95560464" "subst" "0" "01933" "DICER1_000047" "g.95560464C>A" "" "{PMID:Brenneman 2015:26925222}" "" "" "" "Germline" "" "" "0" "" "" "g.95094127C>A" "" "pathogenic" "" "0000163696" "0" "95" "14" "95560463" "95560463" "subst" "0" "01933" "DICER1_000102" "g.95560463T>C" "" "{PMID:Klein 2015:24676357}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95094126T>C" "" "pathogenic" "" "0000163697" "1" "95" "14" "95560451" "95560451" "subst" "0" "01933" "DICER1_000048" "g.95560451T>A" "" "{PMID:Rath 2014:24628552}" "" "" "" "Germline" "" "" "0" "" "" "g.95094114T>A" "" "pathogenic" "" "0000163698" "1" "95" "14" "95560359" "95560370" "del" "0" "01933" "DICER1_000044" "g.95560359_95560370del" "" "{PMID:Pugh 2014:24909177}" "" "" "" "Germline" "" "" "0" "" "" "g.95094022_95094033del" "" "pathogenic" "" "0000163699" "1" "95" "14" "95557675" "95557675" "del" "0" "01933" "DICER1_000056" "g.95557675del" "" "{PMID:de Kock 2015:26475046}" "" "" "" "Germline" "" "" "0" "" "" "g.95091338del" "" "pathogenic" "" "0000163700" "0" "95" "14" "95557642" "95557642" "subst" "0" "01933" "DICER1_000107" "g.95557642C>T" "" "{PMID:Brenneman 2015:26925222}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95091305C>T" "" "pathogenic" "" "0000163701" "0" "95" "14" "95557639" "95557639" "subst" "0" "01933" "DICER1_000104" "g.95557639C>A" "" "{PMID:de Kock 2015:26475046}; {PMID:Brenneman 2015:26925222}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95091302C>A" "" "pathogenic" "" "0000163702" "0" "95" "14" "95557630" "95557630" "subst" "0" "01933" "DICER1_000105" "g.95557630C>G" "" "{PMID:de Kock 2015:26475046}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95091293C>G" "" "pathogenic" "" "0000163703" "0" "95" "14" "95557628" "95557628" "subst" "0" "01933" "DICER1_000106" "g.95557628C>G" "" "{PMID:Seki 2014:24675358}" "" "" "Somatic mosaicism was shown for this mutation" "De novo" "" "" "0" "" "" "g.95091291C>G" "" "pathogenic" "" "0000163704" "1" "95" "14" "95557607" "95557607" "subst" "0" "01933" "DICER1_000067" "g.95557607G>C" "" "{PMID:Slade 2011:21266384}" "" "" "" "Germline" "" "" "0" "" "" "g.95091270G>C" "" "pathogenic" "" "0000163705" "0" "95" "14" "95557602" "95557602" "subst" "0" "00000" "DICER1_000083" "g.95557602T>A" "" "{PMID:Bahubeshi 2011:21036787}" "" "" "" "Germline" "" "" "0" "" "" "g.95091265T>A" "" "pathogenic" "" "0000163706" "1" "95" "14" "95557590" "95557590" "subst" "0" "01933" "DICER1_000020" "g.95557590G>T" "" "Submitted by Erasmus MC" "" "" "" "Germline" "" "" "0" "" "" "g.95091253G>T" "" "pathogenic" "" "0000163707" "0" "75" "14" "95557574" "95557574" "subst" "0" "01933" "DICER1_000095" "g.95557574C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95091237C>T" "" "likely pathogenic" "" "0000248250" "0" "30" "14" "95562366" "95562366" "subst" "0.00166982" "02325" "DICER1_000116" "g.95562366A>C" "" "" "" "DICER1(NM_030621.4):c.4891T>G (p.S1631A), DICER1(NM_177438.3):c.4891T>G (p.S1631A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95096029A>C" "" "likely benign" "" "0000250024" "0" "30" "14" "95562366" "95562366" "subst" "0.00166982" "02329" "DICER1_000116" "g.95562366A>C" "" "" "" "DICER1(NM_030621.4):c.4891T>G (p.S1631A), DICER1(NM_177438.3):c.4891T>G (p.S1631A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95096029A>C" "" "likely benign" "" "0000250122" "0" "10" "14" "95571479" "95571479" "subst" "0.00325" "02329" "DICER1_000136" "g.95571479A>G" "" "" "" "DICER1(NM_177438.2):c.3198T>C (p.T1066=), DICER1(NM_177438.3):c.3198T>C (p.T1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95105142A>G" "" "benign" "" "0000250123" "0" "10" "14" "95572111" "95572111" "subst" "0.00402734" "02329" "DICER1_000154" "g.95572111A>C" "" "" "" "DICER1(NM_177438.3):c.2997T>G (p.L999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95105774A>C" "" "benign" "" "0000251691" "0" "30" "14" "95562366" "95562366" "subst" "0.00166982" "02326" "DICER1_000116" "g.95562366A>C" "" "" "" "DICER1(NM_030621.4):c.4891T>G (p.S1631A), DICER1(NM_177438.3):c.4891T>G (p.S1631A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95096029A>C" "" "likely benign" "" "0000252240" "0" "30" "14" "95583045" "95583045" "del" "0" "02326" "DICER1_000144" "g.95583045del" "" "" "" "DICER1(NM_030621.4):c.1510-4delT, DICER1(NM_177438.3):c.1510-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95116708del" "" "likely benign" "" "0000255291" "0" "30" "14" "95557533" "95557533" "subst" "9.34579E-5" "01943" "DICER1_000110" "g.95557533A>T" "" "" "" "DICER1(NM_030621.4):c.5527+7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95091196A>T" "" "likely benign" "" "0000256224" "0" "50" "14" "95556961" "95556961" "subst" "8.12156E-5" "01943" "DICER1_000109" "g.95556961A>G" "" "" "" "DICER1(NM_001195573.1):c.5480T>C (p.L1827P, p.(Leu1827Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95090624A>G" "" "VUS" "" "0000267387" "0" "30" "14" "95570268" "95570268" "subst" "4.06441E-6" "02325" "DICER1_000134" "g.95570268C>T" "" "" "" "DICER1(NM_177438.3):c.3465G>A (p.T1155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95103931C>T" "" "likely benign" "" "0000267388" "0" "30" "14" "95566106" "95566106" "del" "0" "02325" "DICER1_000128" "g.95566106del" "" "" "" "DICER1(NM_030621.4):c.4206+9_4206+11delGTGinsGT, DICER1(NM_177438.3):c.4206+11delG, DICER1(NM_177438.3):c.4206+9_4206+11delGTGinsGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099769del" "" "likely benign" "" "0000267389" "0" "10" "14" "95566098" "95566098" "del" "0" "02325" "DICER1_000123" "g.95566098del" "" "" "" "DICER1(NM_001195573.1):c.4206+19delG (p.(=)), DICER1(NM_177438.2):c.4206+19delG, DICER1(NM_177438.2):c.4206+9_4206+19delGTGTGTGTGTGinsGTGTGTGTGT, D..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099761del" "" "benign" "" "0000267390" "0" "10" "14" "95566098" "95566109" "del" "0" "02325" "DICER1_000125" "g.95566098_95566109del" "" "" "" "DICER1(NM_177438.3):c.4206+37_4206+48delGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099761_95099772del" "" "benign" "" "0000267391" "0" "10" "14" "95566096" "95566109" "del" "0" "02325" "DICER1_000122" "g.95566096_95566109del" "" "" "" "DICER1(NM_177438.3):c.4206+35_4206+48delGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099759_95099772del" "" "benign" "" "0000267392" "0" "10" "14" "95566106" "95566108" "del" "0" "02325" "DICER1_000129" "g.95566106_95566108del" "" "" "" "DICER1(NM_030621.4):c.4206+9_4206+11delGTG, DICER1(NM_177438.3):c.4206+9_4206+11delGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099769_95099771del" "" "benign" "" "0000267393" "0" "10" "14" "95566098" "95566108" "del" "0" "02325" "DICER1_000124" "g.95566098_95566108del" "" "" "" "DICER1(NM_177438.3):c.4206+9_4206+19delGTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099761_95099771del" "" "benign" "" "0000267394" "0" "30" "14" "95566108" "95566108" "del" "0" "02325" "DICER1_000131" "g.95566108del" "" "" "" "DICER1(NM_030621.4):c.4206+9delG, DICER1(NM_177438.3):c.4206+9delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099771del" "" "likely benign" "" "0000267395" "0" "30" "14" "95596536" "95596536" "subst" "9.85489E-5" "02325" "DICER1_000147" "g.95596536T>A" "" "" "" "DICER1(NM_177438.3):c.439-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95130199T>A" "" "likely benign" "" "0000267396" "0" "30" "14" "95560444" "95560444" "subst" "0.00134163" "02325" "DICER1_000114" "g.95560444G>A" "" "" "" "DICER1(NM_001195573.1):c.5145C>T (p.(Leu1715=)), DICER1(NM_030621.4):c.5145C>T (p.L1715=), DICER1(NM_177438.2):c.5145C>T (p.L1715=), DICER1(NM_177...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95094107G>A" "" "likely benign" "" "0000268665" "0" "30" "14" "95599776" "95599776" "subst" "0.00167597" "02329" "DICER1_000149" "g.95599776T>C" "" "" "" "DICER1(NM_030621.4):c.20A>G (p.Q7R), DICER1(NM_177438.2):c.20A>G (p.Q7R), DICER1(NM_177438.3):c.20A>G (p.Q7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95133439T>C" "" "likely benign" "" "0000268666" "0" "30" "14" "95577701" "95577701" "subst" "8.12301E-6" "02329" "DICER1_000142" "g.95577701G>A" "" "" "" "DICER1(NM_177438.3):c.2209C>T (p.P737S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95111364G>A" "" "likely benign" "" "0000268667" "0" "10" "14" "95572075" "95572075" "subst" "0.00865025" "02329" "DICER1_000137" "g.95572075C>T" "" "" "" "DICER1(NM_030621.4):c.3033G>A (p.A1011=), DICER1(NM_177438.3):c.3033G>A (p.A1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95105738C>T" "" "benign" "" "0000268668" "0" "30" "14" "95566104" "95566104" "del" "0" "02329" "DICER1_000127" "g.95566104del" "" "" "" "DICER1(NM_001195573.1):c.4206+13del (p.(=)), DICER1(NM_030621.4):c.4206+9_4206+13delGTGTGinsGTGT, DICER1(NM_177438.3):c.4206+11_4206+13delGTGinsGT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099767del" "" "likely benign" "" "0000268669" "0" "30" "14" "95566106" "95566106" "del" "0" "02329" "DICER1_000128" "g.95566106del" "" "" "" "DICER1(NM_030621.4):c.4206+9_4206+11delGTGinsGT, DICER1(NM_177438.3):c.4206+11delG, DICER1(NM_177438.3):c.4206+9_4206+11delGTGinsGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099769del" "" "likely benign" "" "0000268670" "0" "30" "14" "95566100" "95566100" "del" "0" "02329" "DICER1_000126" "g.95566100del" "" "" "" "DICER1(NM_001195573.1):c.4206+17del (p.(=)), DICER1(NM_177438.2):c.4206+17delG, DICER1(NM_177438.3):c.4206+17delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099763del" "" "likely benign" "" "0000268672" "0" "30" "14" "95566096" "95566096" "del" "0" "02329" "DICER1_000121" "g.95566096del" "" "" "" "DICER1(NM_177438.3):c.4206+9_4206+21delGTGTGTGTGTGTGinsGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099759del" "" "likely benign" "" "0000268673" "0" "10" "14" "95566090" "95566108" "del" "0" "02329" "DICER1_000120" "g.95566090_95566108del" "" "" "" "DICER1(NM_177438.2):c.4206+9_4206+27delGTGTGTGTGTGTGTGTGTG, DICER1(NM_177438.3):c.4206+9_4206+27delGTGTGTGTGTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099753_95099771del" "" "benign" "" "0000268674" "0" "30" "14" "95596536" "95596536" "subst" "9.85489E-5" "02329" "DICER1_000147" "g.95596536T>A" "" "" "" "DICER1(NM_177438.3):c.439-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95130199T>A" "" "likely benign" "" "0000268675" "0" "10" "14" "95562577" "95562577" "subst" "0.0086527" "02329" "DICER1_000117" "g.95562577C>T" "" "" "" "DICER1(NM_030621.4):c.4680G>A (p.A1560=), DICER1(NM_177438.3):c.4680G>A (p.A1560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95096240C>T" "" "benign" "" "0000268676" "0" "30" "14" "95560444" "95560444" "subst" "0.00134163" "02329" "DICER1_000114" "g.95560444G>A" "" "" "" "DICER1(NM_001195573.1):c.5145C>T (p.(Leu1715=)), DICER1(NM_030621.4):c.5145C>T (p.L1715=), DICER1(NM_177438.2):c.5145C>T (p.L1715=), DICER1(NM_177...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95094107G>A" "" "likely benign" "" "0000268677" "0" "10" "14" "95560348" "95560348" "subst" "0.001324" "02329" "DICER1_000113" "g.95560348C>T" "" "" "" "DICER1(NM_177438.2):c.5241G>A (p.S1747=), DICER1(NM_177438.3):c.5241G>A (p.S1747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95094011C>T" "" "benign" "" "0000270809" "0" "30" "14" "95599776" "95599776" "subst" "0.00167597" "02326" "DICER1_000149" "g.95599776T>C" "" "" "" "DICER1(NM_030621.4):c.20A>G (p.Q7R), DICER1(NM_177438.2):c.20A>G (p.Q7R), DICER1(NM_177438.3):c.20A>G (p.Q7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95133439T>C" "" "likely benign" "" "0000270810" "0" "10" "14" "95566106" "95566108" "del" "0" "02326" "DICER1_000129" "g.95566106_95566108del" "" "" "" "DICER1(NM_030621.4):c.4206+9_4206+11delGTG, DICER1(NM_177438.3):c.4206+9_4206+11delGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099769_95099771del" "" "benign" "" "0000270811" "0" "10" "14" "95566106" "95566106" "del" "0" "02326" "DICER1_000128" "g.95566106del" "" "" "" "DICER1(NM_030621.4):c.4206+9_4206+11delGTGinsGT, DICER1(NM_177438.3):c.4206+11delG, DICER1(NM_177438.3):c.4206+9_4206+11delGTGinsGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099769del" "" "benign" "" "0000270812" "0" "10" "14" "95566104" "95566104" "del" "0" "02326" "DICER1_000127" "g.95566104del" "" "" "" "DICER1(NM_001195573.1):c.4206+13del (p.(=)), DICER1(NM_030621.4):c.4206+9_4206+13delGTGTGinsGTGT, DICER1(NM_177438.3):c.4206+11_4206+13delGTGinsGT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099767del" "" "benign" "" "0000270813" "0" "10" "14" "95566108" "95566108" "del" "0" "02326" "DICER1_000131" "g.95566108del" "" "" "" "DICER1(NM_030621.4):c.4206+9delG, DICER1(NM_177438.3):c.4206+9delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099771del" "" "benign" "" "0000270814" "0" "30" "14" "95563003" "95563005" "del" "0" "02326" "DICER1_000119" "g.95563003_95563005del" "" "" "" "DICER1(NM_001195573.1):c.4260_4262del (p.(Glu1420del)), DICER1(NM_030621.4):c.4260_4262delGGA (p.E1420del), DICER1(NM_177438.2):c.4260_4262delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95096666_95096668del" "" "likely benign" "" "0000275024" "0" "90" "14" "95590765" "95590765" "subst" "0" "01943" "DICER1_000084" "g.95590765C>A" "" "" "" "DICER1(NM_030621.4):c.1144G>T (p.E382*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95124428C>A" "" "pathogenic" "" "0000275025" "0" "90" "14" "95590729" "95590729" "subst" "0" "01943" "DICER1_000146" "g.95590729G>A" "" "" "" "DICER1(NM_030621.4):c.1180C>T (p.Q394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95124392G>A" "" "pathogenic" "" "0000275027" "0" "90" "14" "95583970" "95583970" "subst" "0" "01943" "DICER1_000029" "g.95583970T>A" "" "" "" "DICER1(NM_030621.4):c.1498A>T (p.K500*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95117633T>A" "" "pathogenic" "" "0000275028" "0" "30" "14" "95599776" "95599776" "subst" "0.00167597" "01943" "DICER1_000149" "g.95599776T>C" "" "" "" "DICER1(NM_030621.4):c.20A>G (p.Q7R), DICER1(NM_177438.2):c.20A>G (p.Q7R), DICER1(NM_177438.3):c.20A>G (p.Q7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95133439T>C" "" "likely benign" "" "0000275029" "0" "90" "14" "95577653" "95577653" "subst" "0" "01943" "DICER1_000088" "g.95577653C>G" "" "" "" "DICER1(NM_030621.4):c.2256+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95111316C>G" "" "pathogenic" "" "0000275030" "0" "50" "14" "95574847" "95574847" "subst" "0" "01943" "DICER1_000089" "g.95574847T>C" "" "" "" "DICER1(NM_030621.4):c.2257-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95108510T>C" "" "VUS" "" "0000275031" "0" "30" "14" "95574727" "95574727" "subst" "0.00177149" "01943" "DICER1_000141" "g.95574727C>T" "" "" "" "DICER1(NM_030621.4):c.2370G>A (p.R790=), DICER1(NM_177438.2):c.2370G>A (p.R790=), DICER1(NM_177438.3):c.2370G>A (p.R790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95108390C>T" "" "likely benign" "" "0000275032" "0" "90" "14" "95574418" "95574418" "del" "0" "01943" "DICER1_000140" "g.95574418del" "" "" "" "DICER1(NM_030621.4):c.2450delC (p.P817Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95108081del" "" "pathogenic" "" "0000275033" "0" "30" "14" "95574091" "95574091" "subst" "4.88182E-5" "01943" "DICER1_000139" "g.95574091G>A" "" "" "" "DICER1(NM_030621.4):c.2658C>T (p.D886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95107754G>A" "" "likely benign" "" "0000275034" "0" "90" "14" "95574004" "95574004" "del" "0" "01943" "DICER1_000138" "g.95574004del" "" "" "" "DICER1(NM_030621.4):c.2748delA (p.E917Kfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95107667del" "" "pathogenic" "" "0000275035" "0" "10" "14" "95572075" "95572075" "subst" "0.00865025" "01943" "DICER1_000137" "g.95572075C>T" "" "" "" "DICER1(NM_030621.4):c.3033G>A (p.A1011=), DICER1(NM_177438.3):c.3033G>A (p.A1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95105738C>T" "" "benign" "" "0000275036" "0" "90" "14" "95570309" "95570310" "del" "0" "01943" "DICER1_000135" "g.95570309_95570310del" "" "" "" "DICER1(NM_030621.4):c.3427_3428delCT (p.L1143Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95103972_95103973del" "" "pathogenic" "" "0000275037" "0" "90" "14" "95570007" "95570007" "subst" "0" "01943" "DICER1_000078" "g.95570007G>T" "" "" "" "DICER1(NM_030621.4):c.3726C>A (p.Y1242*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95103670G>T" "" "pathogenic" "" "0000275038" "0" "30" "14" "95569966" "95569966" "subst" "0" "01943" "DICER1_000133" "g.95569966G>A" "" "" "" "DICER1(NM_030621.4):c.3767C>T (p.P1256L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95103629G>A" "" "likely benign" "" "0000275039" "0" "50" "14" "95597901" "95597901" "subst" "0" "01943" "DICER1_000148" "g.95597901T>G" "" "" "" "DICER1(NM_001195573.1):c.383A>C (p.(Glu128Ala)), DICER1(NM_030621.4):c.383A>C (p.E128A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95131564T>G" "" "VUS" "" "0000275041" "0" "10" "14" "95566108" "95566108" "subst" "0" "01943" "DICER1_000132" "g.95566108C>A" "" "" "" "DICER1(NM_030621.4):c.4206+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099771C>A" "" "benign" "" "0000275042" "0" "50" "14" "95563003" "95563005" "del" "0" "01943" "DICER1_000119" "g.95563003_95563005del" "" "" "" "DICER1(NM_001195573.1):c.4260_4262del (p.(Glu1420del)), DICER1(NM_030621.4):c.4260_4262delGGA (p.E1420del), DICER1(NM_177438.2):c.4260_4262delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95096666_95096668del" "" "VUS" "" "0000275043" "0" "50" "14" "95562889" "95562889" "subst" "4.06762E-6" "01943" "DICER1_000118" "g.95562889C>T" "" "" "" "DICER1(NM_030621.4):c.4368G>A (p.M1456I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95096552C>T" "" "VUS" "" "0000275044" "0" "10" "14" "95562577" "95562577" "subst" "0.0086527" "01943" "DICER1_000117" "g.95562577C>T" "" "" "" "DICER1(NM_030621.4):c.4680G>A (p.A1560=), DICER1(NM_177438.3):c.4680G>A (p.A1560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95096240C>T" "" "benign" "" "0000275045" "0" "90" "14" "95562293" "95562294" "del" "0" "01943" "DICER1_000093" "g.95562293_95562294del" "" "" "" "DICER1(NM_030621.4):c.4963_4964delGC (p.A1655Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95095956_95095957del" "" "pathogenic" "" "0000275047" "0" "90" "14" "95560269" "95560269" "subst" "0" "01943" "DICER1_000112" "g.95560269G>A" "" "" "" "DICER1(NM_030621.4):c.5320C>T (p.Q1774*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95093932G>A" "" "pathogenic" "" "0000275048" "0" "90" "14" "95557626" "95557626" "subst" "0" "01943" "DICER1_000111" "g.95557626G>A" "" "" "" "DICER1(NM_030621.4):c.5441C>T (p.S1814L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95091289G>A" "" "pathogenic" "" "0000275049" "0" "90" "14" "95557574" "95557574" "subst" "0" "01943" "DICER1_000095" "g.95557574C>T" "" "" "" "DICER1(NM_030621.4):c.5493G>A (p.W1831*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95091237C>T" "" "pathogenic" "" "0000323829" "0" "50" "14" "95563003" "95563005" "del" "0" "01804" "DICER1_000119" "g.95563003_95563005del" "" "" "" "DICER1(NM_001195573.1):c.4260_4262del (p.(Glu1420del)), DICER1(NM_030621.4):c.4260_4262delGGA (p.E1420del), DICER1(NM_177438.2):c.4260_4262delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95096666_95096668del" "" "VUS" "" "0000323830" "0" "50" "14" "95578517" "95578517" "subst" "0" "01804" "DICER1_000143" "g.95578517T>C" "" "" "" "DICER1(NM_001195573.1):c.2108A>G (p.(His703Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95112180T>C" "" "VUS" "" "0000338944" "0" "10" "14" "95566108" "95566108" "subst" "0" "02327" "DICER1_000132" "g.95566108C>A" "" "" "" "DICER1(NM_030621.4):c.4206+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95099771C>A" "" "benign" "" "0000338945" "0" "90" "14" "95595808" "95595808" "subst" "0" "02327" "DICER1_000153" "g.95595808C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95129471C>G" "" "pathogenic" "" "0000340589" "0" "10" "14" "95560444" "95560444" "subst" "0.00134163" "02327" "DICER1_000114" "g.95560444G>A" "" "" "" "DICER1(NM_001195573.1):c.5145C>T (p.(Leu1715=)), DICER1(NM_030621.4):c.5145C>T (p.L1715=), DICER1(NM_177438.2):c.5145C>T (p.L1715=), DICER1(NM_177...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95094107G>A" "" "benign" "" "0000347312" "0" "70" "14" "95574683" "95574683" "subst" "0" "02327" "DICER1_000150" "g.95574683A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95108346A>G" "" "likely pathogenic" "" "0000500469" "0" "90" "14" "95557411" "95557411" "subst" "0" "00643" "DICER1_000155" "g.95557411G>A" "" "{PMID:Fostira 2020:31300551}" "" "" "" "Germline" "" "" "0" "" "" "g.95091074G>A" "" "pathogenic" "" "0000553468" "0" "30" "14" "95556961" "95556961" "subst" "8.12156E-5" "01804" "DICER1_000109" "g.95556961A>G" "" "" "" "DICER1(NM_001195573.1):c.5480T>C (p.L1827P, p.(Leu1827Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95090624A>G" "" "likely benign" "" "0000553469" "0" "30" "14" "95560444" "95560444" "subst" "0.00134163" "01943" "DICER1_000114" "g.95560444G>A" "" "" "" "DICER1(NM_001195573.1):c.5145C>T (p.(Leu1715=)), DICER1(NM_030621.4):c.5145C>T (p.L1715=), DICER1(NM_177438.2):c.5145C>T (p.L1715=), DICER1(NM_177...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95094107G>A" "" "likely benign" "" "0000553470" "0" "10" "14" "95562149" "95562149" "subst" "0.0013351" "02329" "DICER1_000156" "g.95562149G>A" "" "" "" "DICER1(NM_177438.2):c.5095+13C>T, DICER1(NM_177438.3):c.5095+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95095812G>A" "" "benign" "" "0000553471" "0" "90" "14" "95562257" "95562257" "dup" "0" "01943" "DICER1_000157" "g.95562257dup" "" "" "" "DICER1(NM_030621.4):c.5003dupA (p.N1668Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95095920dup" "" "pathogenic" "" "0000553472" "0" "10" "14" "95562577" "95562577" "subst" "0.0086527" "02327" "DICER1_000117" "g.95562577C>T" "" "" "" "DICER1(NM_030621.4):c.4680G>A (p.A1560=), DICER1(NM_177438.3):c.4680G>A (p.A1560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95096240C>T" "" "benign" "" "0000553473" "0" "50" "14" "95562797" "95562797" "subst" "0" "02325" "DICER1_000158" "g.95562797G>A" "" "" "" "DICER1(NM_030621.4):c.4460C>T (p.S1487F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95096460G>A" "" "VUS" "" "0000553474" "0" "30" "14" "95563053" "95563053" "subst" "0.000122386" "01943" "DICER1_000159" "g.95563053G>A" "" "" "" "DICER1(NM_030621.4):c.4207-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95096716G>A" "" "likely benign" "" "0000553475" "0" "10" "14" "95566100" "95566108" "del" "0" "01943" "DICER1_000160" "g.95566100_95566108del" "" "" "" "DICER1(NM_001195573.1):c.4206+9_4206+17del (p.(=)), DICER1(NM_030621.4):c.4206+9_4206+17delGTGTGTGTG, DICER1(NM_177438.3):c.4206+9_4206+17delGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95099763_95099771del" "" "benign" "" "0000553476" "0" "10" "14" "95566100" "95566108" "del" "0" "02325" "DICER1_000160" "g.95566100_95566108del" "" "" "" "DICER1(NM_001195573.1):c.4206+9_4206+17del (p.(=)), DICER1(NM_030621.4):c.4206+9_4206+17delGTGTGTGTG, DICER1(NM_177438.3):c.4206+9_4206+17delGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95099763_95099771del" "" "benign" "" "0000553477" "0" "10" "14" "95566110" "95566111" "dup" "0" "01943" "DICER1_000161" "g.95566110_95566111dup" "" "" "" "DICER1(NM_030621.4):c.4206+7_4206+8dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95099773_95099774dup" "" "benign" "" "0000553478" "0" "90" "14" "95566184" "95566184" "subst" "0" "01943" "DICER1_000092" "g.95566184C>T" "" "" "" "DICER1(NM_030621.4):c.4139G>A (p.W1380*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95099847C>T" "" "pathogenic" "" "0000553479" "0" "30" "14" "95569761" "95569761" "subst" "0.0020598" "01943" "DICER1_000162" "g.95569761C>T" "" "" "" "DICER1(NM_030621.4):c.3972G>A (p.K1324=), DICER1(NM_177438.2):c.3972G>A (p.K1324=), DICER1(NM_177438.3):c.3972G>A (p.(Lys1324=), p.K1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95103424C>T" "" "likely benign" "" "0000553480" "0" "30" "14" "95569761" "95569761" "subst" "0.0020598" "02325" "DICER1_000162" "g.95569761C>T" "" "" "" "DICER1(NM_030621.4):c.3972G>A (p.K1324=), DICER1(NM_177438.2):c.3972G>A (p.K1324=), DICER1(NM_177438.3):c.3972G>A (p.(Lys1324=), p.K1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95103424C>T" "" "likely benign" "" "0000553481" "0" "30" "14" "95569761" "95569761" "subst" "0.0020598" "02329" "DICER1_000162" "g.95569761C>T" "" "" "" "DICER1(NM_030621.4):c.3972G>A (p.K1324=), DICER1(NM_177438.2):c.3972G>A (p.K1324=), DICER1(NM_177438.3):c.3972G>A (p.(Lys1324=), p.K1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95103424C>T" "" "likely benign" "" "0000553482" "0" "90" "14" "95570193" "95570193" "subst" "0" "02327" "DICER1_000163" "g.95570193G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95103856G>C" "" "pathogenic" "" "0000553483" "0" "10" "14" "95572075" "95572075" "subst" "0.00865025" "02327" "DICER1_000137" "g.95572075C>T" "" "" "" "DICER1(NM_030621.4):c.3033G>A (p.A1011=), DICER1(NM_177438.3):c.3033G>A (p.A1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95105738C>T" "" "benign" "" "0000553484" "0" "90" "14" "95574345" "95574345" "del" "0" "01943" "DICER1_000164" "g.95574345del" "" "" "" "DICER1(NM_030621.4):c.2524delA (p.M842Cfs*4), DICER1(NM_177438.3):c.2524delA (p.M842Cfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95108008del" "" "pathogenic" "" "0000553485" "0" "90" "14" "95574345" "95574345" "del" "0" "02329" "DICER1_000164" "g.95574345del" "" "" "" "DICER1(NM_030621.4):c.2524delA (p.M842Cfs*4), DICER1(NM_177438.3):c.2524delA (p.M842Cfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95108008del" "" "pathogenic" "" "0000553486" "0" "90" "14" "95577677" "95577677" "subst" "0" "01943" "DICER1_000087" "g.95577677G>A" "" "" "" "DICER1(NM_030621.4):c.2233C>T (p.R745*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95111340G>A" "" "pathogenic" "" "0000553487" "0" "10" "14" "95579534" "95579534" "subst" "0.0103699" "01943" "DICER1_000165" "g.95579534C>T" "" "" "" "DICER1(NM_001195573.1):c.1935G>A (p.(Pro645=)), DICER1(NM_030621.4):c.1935G>A (p.P645=), DICER1(NM_177438.3):c.1935G>A (p.P645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95113197C>T" "" "benign" "" "0000553488" "0" "10" "14" "95579534" "95579534" "subst" "0.0103699" "02329" "DICER1_000165" "g.95579534C>T" "" "" "" "DICER1(NM_001195573.1):c.1935G>A (p.(Pro645=)), DICER1(NM_030621.4):c.1935G>A (p.P645=), DICER1(NM_177438.3):c.1935G>A (p.P645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95113197C>T" "" "benign" "" "0000553489" "0" "90" "14" "95583017" "95583017" "subst" "0" "02327" "DICER1_000030" "g.95583017G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95116680G>A" "" "pathogenic" "" "0000553490" "0" "50" "14" "95583959" "95583959" "subst" "0" "01943" "DICER1_000086" "g.95583959C>T" "" "" "" "DICER1(NM_030621.4):c.1509G>A (p.E503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95117622C>T" "" "VUS" "" "0000553491" "0" "90" "14" "95590711" "95590711" "dup" "0" "01943" "DICER1_000166" "g.95590711dup" "" "" "" "DICER1(NM_030621.4):c.1198dupT (p.W400Lfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95124374dup" "" "pathogenic" "" "0000599055" "0" "10" "14" "95566108" "95566108" "subst" "0" "02337" "DICER1_000132" "g.95566108C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95099771C>A" "" "benign" "" "0000599056" "0" "10" "14" "95566108" "95566108" "subst" "0" "02337" "DICER1_000132" "g.95566108C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95099771C>A" "" "benign" "" "0000599057" "0" "10" "14" "95584095" "95584095" "subst" "0.00335958" "02337" "DICER1_000167" "g.95584095A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95117758A>C" "" "benign" "" "0000599058" "0" "10" "14" "95566108" "95566108" "subst" "0" "02337" "DICER1_000132" "g.95566108C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95099771C>A" "" "benign" "" "0000623184" "0" "30" "14" "95584095" "95584095" "subst" "0.00335958" "01943" "DICER1_000167" "g.95584095A>C" "" "" "" "DICER1(NM_030621.4):c.1377-4T>G, DICER1(NM_177438.2):c.1377-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95117758A>C" "" "likely benign" "" "0000653362" "0" "50" "14" "95584095" "95584095" "subst" "0.00335958" "01164" "DICER1_000167" "g.95584095A>C" "" "" "" "" "" "Germline" "" "rs192490028" "0" "" "" "g.95117758A>C" "" "VUS" "ACMG" "0000653472" "0" "90" "14" "95579443" "95579443" "subst" "0" "01164" "DICER1_000031" "g.95579443G>A" "" "" "" "" "ACMG: PVS1,PM2,PP5; de Kock et al. 2014. Acta Neuropathol 128: 111" "Germline" "" "rs878855246" "0" "" "" "g.95113106G>A" "" "pathogenic" "ACMG" "0000657516" "0" "50" "14" "95574112" "95574112" "subst" "0" "01804" "DICER1_000168" "g.95574112A>C" "" "" "" "DICER1(NM_001195573.1):c.2651-14T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95107775A>C" "" "VUS" "" "0000659778" "0" "50" "14" "95574659" "95574662" "del" "0" "01164" "DICER1_000169" "g.95574659_95574662del" "" "" "" "" "BC at age 66y, brother, father, grandfather (ps) prostate cancer <60y" "Germline" "" "rs777823741" "0" "" "" "g.95108322_95108325del" "" "VUS" "ACMG" "0000680085" "0" "50" "14" "95571498" "95571498" "subst" "0" "01943" "DICER1_000170" "g.95571498C>T" "" "" "" "DICER1(NM_030621.4):c.3179G>A (p.R1060H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680086" "0" "10" "14" "95574727" "95574727" "subst" "0.00177149" "02329" "DICER1_000141" "g.95574727C>T" "" "" "" "DICER1(NM_030621.4):c.2370G>A (p.R790=), DICER1(NM_177438.2):c.2370G>A (p.R790=), DICER1(NM_177438.3):c.2370G>A (p.R790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680087" "0" "30" "14" "95582111" "95582111" "subst" "2.03049E-5" "02327" "DICER1_000171" "g.95582111G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682772" "0" "70" "14" "95596394" "95596394" "subst" "0" "03753" "DICER1_000172" "g.95596394C>T" "0.034" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000691739" "0" "50" "14" "95557563" "95557563" "subst" "8.1246E-5" "02329" "DICER1_000173" "g.95557563T>C" "" "" "" "DICER1(NM_177438.3):c.5504A>G (p.Y1835C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691740" "0" "30" "14" "95563003" "95563005" "del" "0" "02325" "DICER1_000119" "g.95563003_95563005del" "" "" "" "DICER1(NM_001195573.1):c.4260_4262del (p.(Glu1420del)), DICER1(NM_030621.4):c.4260_4262delGGA (p.E1420del), DICER1(NM_177438.2):c.4260_4262delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691741" "0" "90" "14" "95569728" "95569728" "del" "0" "02325" "DICER1_000174" "g.95569728del" "" "" "" "DICER1(NM_177438.3):c.4007delC (p.P1336Lfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691742" "0" "90" "14" "95572036" "95572036" "subst" "0" "02327" "DICER1_000175" "g.95572036C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724928" "0" "90" "14" "95562161" "95562161" "subst" "0" "02327" "DICER1_000176" "g.95562161C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724929" "0" "50" "14" "95574406" "95574406" "subst" "0" "02327" "DICER1_000177" "g.95574406G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724930" "0" "90" "14" "95582003" "95582003" "subst" "0" "02327" "DICER1_000178" "g.95582003C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724931" "0" "30" "14" "95583949" "95583949" "subst" "0" "01943" "DICER1_000179" "g.95583949T>C" "" "" "" "DICER1(NM_030621.4):c.1509+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724932" "0" "30" "14" "95596483" "95596483" "subst" "0.000573894" "01943" "DICER1_000180" "g.95596483C>T" "" "" "" "DICER1(NM_030621.4):c.485G>A (p.G162D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724933" "0" "30" "14" "95599776" "95599776" "subst" "0.00167597" "02327" "DICER1_000149" "g.95599776T>C" "" "" "" "DICER1(NM_030621.4):c.20A>G (p.Q7R), DICER1(NM_177438.2):c.20A>G (p.Q7R), DICER1(NM_177438.3):c.20A>G (p.Q7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000750028" "0" "50" "14" "95579424" "95579424" "subst" "0" "02551" "DICER1_000181" "g.95579424C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000806544" "0" "10" "14" "95578444" "95578444" "subst" "0" "02369" "DICER1_000182" "g.95578444T>A" "" "" "" "DICER1(NM_030621.4):c.2116+65A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000833993" "0" "90" "14" "95569702" "95569702" "subst" "0" "00006" "DICER1_000183" "g.95569702G>A" "" "{PMID:Ponten 2022:33208384}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000833994" "0" "90" "14" "95247243" "95858197" "del" "0" "00006" "DICER1_000184" "g.(?_95247243)_(95858197_?)del" "" "{PMID:Ponten 2022:33208384}" "" "" "0.61 Mb deletion normal allele covering DICER1 in tumor" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000853924" "0" "90" "14" "95559044" "95559044" "subst" "0" "02327" "DICER1_000185" "g.95559044T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853925" "0" "30" "14" "95560444" "95560444" "subst" "0.00134163" "01804" "DICER1_000114" "g.95560444G>A" "" "" "" "DICER1(NM_001195573.1):c.5145C>T (p.(Leu1715=)), DICER1(NM_030621.4):c.5145C>T (p.L1715=), DICER1(NM_177438.2):c.5145C>T (p.L1715=), DICER1(NM_177...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853926" "0" "50" "14" "95570380" "95570380" "subst" "8.13471E-6" "01804" "DICER1_000190" "g.95570380T>C" "" "" "" "DICER1(NM_001195573.1):c.3353A>G (p.(Asn1118Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853927" "0" "10" "14" "95574727" "95574727" "subst" "0.00177149" "02326" "DICER1_000141" "g.95574727C>T" "" "" "" "DICER1(NM_030621.4):c.2370G>A (p.R790=), DICER1(NM_177438.2):c.2370G>A (p.R790=), DICER1(NM_177438.3):c.2370G>A (p.R790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853928" "0" "10" "14" "95582086" "95582086" "subst" "0.000503553" "02326" "DICER1_000192" "g.95582086C>A" "" "" "" "DICER1(NM_177438.2):c.1825G>T (p.D609Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863720" "0" "90" "14" "95560420" "95560420" "dup" "0" "02326" "DICER1_000186" "g.95560420dup" "" "" "" "DICER1(NM_177438.2):c.5171dupC (p.R1725Afs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863721" "0" "30" "14" "95566090" "95566108" "del" "0" "02326" "DICER1_000120" "g.95566090_95566108del" "" "" "" "DICER1(NM_177438.2):c.4206+9_4206+27delGTGTGTGTGTGTGTGTGTG, DICER1(NM_177438.3):c.4206+9_4206+27delGTGTGTGTGTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863722" "0" "10" "14" "95566098" "95566098" "del" "0" "01804" "DICER1_000123" "g.95566098del" "" "" "" "DICER1(NM_001195573.1):c.4206+19delG (p.(=)), DICER1(NM_177438.2):c.4206+19delG, DICER1(NM_177438.2):c.4206+9_4206+19delGTGTGTGTGTGinsGTGTGTGTGT, D..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863723" "0" "10" "14" "95566100" "95566108" "del" "0" "01804" "DICER1_000160" "g.95566100_95566108del" "" "" "" "DICER1(NM_001195573.1):c.4206+9_4206+17del (p.(=)), DICER1(NM_030621.4):c.4206+9_4206+17delGTGTGTGTG, DICER1(NM_177438.3):c.4206+9_4206+17delGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863724" "0" "10" "14" "95566100" "95566100" "del" "0" "01804" "DICER1_000126" "g.95566100del" "" "" "" "DICER1(NM_001195573.1):c.4206+17del (p.(=)), DICER1(NM_177438.2):c.4206+17delG, DICER1(NM_177438.3):c.4206+17delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863725" "0" "30" "14" "95566102" "95566108" "del" "0" "01804" "DICER1_000188" "g.95566102_95566108del" "" "" "" "DICER1(NM_001195573.1):c.4206+9_4206+15del (p.(=)), DICER1(NM_177438.2):c.4206+9_4206+15delGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863726" "0" "10" "14" "95566102" "95566102" "del" "0" "01804" "DICER1_000187" "g.95566102del" "" "" "" "DICER1(NM_001195573.1):c.4206+15delG (p.(=)), DICER1(NM_177438.2):c.4206+9_4206+15delGTGTGTGinsGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863727" "0" "10" "14" "95566104" "95566108" "del" "0" "01804" "DICER1_000189" "g.95566104_95566108del" "" "" "" "DICER1(NM_001195573.1):c.4206+9_4206+13del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863728" "0" "10" "14" "95566104" "95566104" "del" "0" "01804" "DICER1_000127" "g.95566104del" "" "" "" "DICER1(NM_001195573.1):c.4206+13del (p.(=)), DICER1(NM_030621.4):c.4206+9_4206+13delGTGTGinsGTGT, DICER1(NM_177438.3):c.4206+11_4206+13delGTGinsGT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863729" "0" "30" "14" "95569761" "95569761" "subst" "0.0020598" "02326" "DICER1_000162" "g.95569761C>T" "" "" "" "DICER1(NM_030621.4):c.3972G>A (p.K1324=), DICER1(NM_177438.2):c.3972G>A (p.K1324=), DICER1(NM_177438.3):c.3972G>A (p.(Lys1324=), p.K1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863730" "0" "50" "14" "95574253" "95574253" "subst" "0.000809338" "01943" "DICER1_000191" "g.95574253C>T" "" "" "" "DICER1(NM_030621.4):c.2614G>A (p.A872T), DICER1(NM_177438.3):c.2614G>A (p.A872T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863731" "0" "10" "14" "95579534" "95579534" "subst" "0.0103699" "01804" "DICER1_000165" "g.95579534C>T" "" "" "" "DICER1(NM_001195573.1):c.1935G>A (p.(Pro645=)), DICER1(NM_030621.4):c.1935G>A (p.P645=), DICER1(NM_177438.3):c.1935G>A (p.P645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863732" "0" "30" "14" "95584095" "95584095" "subst" "0.00335958" "02327" "DICER1_000167" "g.95584095A>C" "" "" "" "DICER1(NM_030621.4):c.1377-4T>G, DICER1(NM_177438.2):c.1377-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863733" "0" "50" "14" "95590839" "95590839" "subst" "0" "02329" "DICER1_000193" "g.95590839G>A" "" "" "" "DICER1(NM_177438.3):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863734" "0" "50" "14" "95597901" "95597901" "subst" "0" "01804" "DICER1_000148" "g.95597901T>G" "" "" "" "DICER1(NM_001195573.1):c.383A>C (p.(Glu128Ala)), DICER1(NM_030621.4):c.383A>C (p.E128A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881323" "21" "90" "14" "95574066" "95574066" "dup" "0" "02300" "DICER1_000194" "g.95574066dup" "" "{PMID:Marinakis 2021:34008892}" "" "NM_030621.4:c.2685dupA (Phe896IlefsTer6)" "ACMG PVS1, PM1, PM2" "Germline" "" "" "0" "" "" "g.95107729dup" "" "pathogenic (dominant)" "ACMG" "0000882023" "21" "50" "14" "95570399" "95570399" "subst" "8.54047E-5" "00006" "DICER1_000195" "g.95570399T>C" "" "{PMID:Yang 2015:26241669}" "" "A3334G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000891943" "0" "10" "14" "95566096" "95566108" "del" "0" "02329" "DICER1_000196" "g.95566096_95566108del" "" "" "" "DICER1(NM_177438.3):c.4206+9_4206+21delGTGTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891944" "0" "30" "14" "95566098" "95566098" "del" "0" "02326" "DICER1_000123" "g.95566098del" "" "" "" "DICER1(NM_001195573.1):c.4206+19delG (p.(=)), DICER1(NM_177438.2):c.4206+19delG, DICER1(NM_177438.2):c.4206+9_4206+19delGTGTGTGTGTGinsGTGTGTGTGT, D..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891945" "0" "10" "14" "95566098" "95566098" "del" "0" "02329" "DICER1_000123" "g.95566098del" "" "" "" "DICER1(NM_001195573.1):c.4206+19delG (p.(=)), DICER1(NM_177438.2):c.4206+19delG, DICER1(NM_177438.2):c.4206+9_4206+19delGTGTGTGTGTGinsGTGTGTGTGT, D..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891946" "0" "10" "14" "95566100" "95566108" "del" "0" "02329" "DICER1_000160" "g.95566100_95566108del" "" "" "" "DICER1(NM_001195573.1):c.4206+9_4206+17del (p.(=)), DICER1(NM_030621.4):c.4206+9_4206+17delGTGTGTGTG, DICER1(NM_177438.3):c.4206+9_4206+17delGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891947" "0" "30" "14" "95566100" "95566100" "del" "0" "02326" "DICER1_000126" "g.95566100del" "" "" "" "DICER1(NM_001195573.1):c.4206+17del (p.(=)), DICER1(NM_177438.2):c.4206+17delG, DICER1(NM_177438.3):c.4206+17delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891948" "0" "30" "14" "95566102" "95566108" "del" "0" "02326" "DICER1_000188" "g.95566102_95566108del" "" "" "" "DICER1(NM_001195573.1):c.4206+9_4206+15del (p.(=)), DICER1(NM_177438.2):c.4206+9_4206+15delGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891949" "0" "30" "14" "95569761" "95569761" "subst" "0.0020598" "02327" "DICER1_000162" "g.95569761C>T" "" "" "" "DICER1(NM_030621.4):c.3972G>A (p.K1324=), DICER1(NM_177438.2):c.3972G>A (p.K1324=), DICER1(NM_177438.3):c.3972G>A (p.(Lys1324=), p.K1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891950" "0" "10" "14" "95571479" "95571479" "subst" "0.00325" "02326" "DICER1_000136" "g.95571479A>G" "" "" "" "DICER1(NM_177438.2):c.3198T>C (p.T1066=), DICER1(NM_177438.3):c.3198T>C (p.T1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891951" "0" "10" "14" "95574310" "95574310" "subst" "0.000504102" "02326" "DICER1_000197" "g.95574310T>C" "" "" "" "DICER1(NM_177438.2):c.2557A>G (p.I853V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891952" "0" "10" "14" "95582024" "95582024" "subst" "0.00196961" "02326" "DICER1_000198" "g.95582024C>T" "" "" "" "DICER1(NM_177438.2):c.1887G>A (p.T629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914253" "0" "30" "14" "95560444" "95560444" "subst" "0.00134163" "02326" "DICER1_000114" "g.95560444G>A" "" "" "" "DICER1(NM_001195573.1):c.5145C>T (p.(Leu1715=)), DICER1(NM_030621.4):c.5145C>T (p.L1715=), DICER1(NM_177438.2):c.5145C>T (p.L1715=), DICER1(NM_177...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914254" "0" "90" "14" "95562653" "95562654" "del" "0" "02325" "DICER1_000199" "g.95562653_95562654del" "" "" "" "DICER1(NM_177438.3):c.4605_4606delTG (p.C1535Wfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914255" "0" "10" "14" "95584095" "95584095" "subst" "0.00335958" "02326" "DICER1_000167" "g.95584095A>C" "" "" "" "DICER1(NM_030621.4):c.1377-4T>G, DICER1(NM_177438.2):c.1377-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925932" "0" "30" "14" "95569941" "95569941" "subst" "0.000174761" "02327" "DICER1_000200" "g.95569941C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930351" "0" "10" "14" "95560348" "95560348" "subst" "0.001324" "02326" "DICER1_000113" "g.95560348C>T" "" "" "" "DICER1(NM_177438.2):c.5241G>A (p.S1747=), DICER1(NM_177438.3):c.5241G>A (p.S1747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930352" "0" "10" "14" "95562149" "95562149" "subst" "0.0013351" "02326" "DICER1_000156" "g.95562149G>A" "" "" "" "DICER1(NM_177438.2):c.5095+13C>T, DICER1(NM_177438.3):c.5095+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930353" "0" "90" "14" "95566184" "95566184" "subst" "0" "02327" "DICER1_000092" "g.95566184C>T" "" "" "" "DICER1(NM_030621.4):c.4139G>A (p.W1380*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950305" "0" "30" "14" "95583045" "95583045" "del" "0" "02329" "DICER1_000144" "g.95583045del" "" "" "" "DICER1(NM_030621.4):c.1510-4delT, DICER1(NM_177438.3):c.1510-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967614" "0" "90" "14" "95574082" "95574082" "del" "0" "02327" "DICER1_000201" "g.95574082del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981085" "0" "50" "14" "95557563" "95557563" "subst" "1.62492E-5" "01804" "DICER1_000202" "g.95557563T>G" "" "" "" "DICER1(NM_177438.3):c.5504A>C (p.(Tyr1835Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981086" "0" "50" "14" "95572379" "95572379" "subst" "0" "01804" "DICER1_000203" "g.95572379T>C" "" "" "" "DICER1(NM_177438.3):c.2986A>G (p.(Arg996Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989405" "0" "70" "14" "95562851" "95562851" "dup" "0" "03779" "DICER1_000204" "g.95562851dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001001214" "0" "50" "14" "95560254" "95560254" "subst" "0" "01804" "DICER1_000205" "g.95560254T>C" "" "" "" "DICER1(NM_177438.2):c.5335A>G (p.(Lys1779Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001215" "0" "50" "14" "95562641" "95562641" "subst" "3.65518E-5" "01804" "DICER1_000206" "g.95562641G>A" "" "" "" "DICER1(NM_177438.2):c.4616C>T (p.(Thr1539Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001216" "0" "50" "14" "95562881" "95562881" "subst" "1.2195E-5" "02327" "DICER1_000207" "g.95562881C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001217" "0" "30" "14" "95562992" "95562992" "subst" "0" "01804" "DICER1_000208" "g.95562992T>A" "" "" "" "DICER1(NM_177438.2):c.4265A>T (p.(Glu1422Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001218" "0" "50" "14" "95563000" "95563000" "del" "0" "01804" "DICER1_000209" "g.95563000del" "" "" "" "DICER1(NM_177438.2):c.4258delG (p.(Glu1420fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001219" "0" "30" "14" "95569922" "95569922" "subst" "4.06412E-6" "01804" "DICER1_000210" "g.95569922G>A" "" "" "" "DICER1(NM_177438.2):c.3811C>T (p.(Leu1271Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001220" "0" "50" "14" "95572062" "95572062" "subst" "0" "01804" "DICER1_000211" "g.95572062T>C" "" "" "" "DICER1(NM_177438.2):c.3046A>G (p.(Ser1016Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001221" "0" "30" "14" "95596487" "95596487" "subst" "0" "01804" "DICER1_000212" "g.95596487T>C" "" "" "" "DICER1(NM_177438.2):c.481A>G (p.(Asn161Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015183" "0" "10" "14" "95560348" "95560348" "subst" "0.001324" "02327" "DICER1_000113" "g.95560348C>T" "" "" "" "DICER1(NM_177438.2):c.5241G>A (p.S1747=), DICER1(NM_177438.3):c.5241G>A (p.S1747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015184" "0" "10" "14" "95574253" "95574253" "subst" "0.000809338" "02329" "DICER1_000191" "g.95574253C>T" "" "" "" "DICER1(NM_030621.4):c.2614G>A (p.A872T), DICER1(NM_177438.3):c.2614G>A (p.A872T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015185" "0" "90" "14" "95595852" "95595852" "subst" "0" "02327" "DICER1_000213" "g.95595852T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001022109" "0" "70" "14" "95574847" "95574847" "subst" "0" "04796" "DICER1_000089" "g.95574847T>C" "" "" "" "" "effect on RNA inclusion of intron sequences" "Germline/De novo (untested)" "" "" "0" "" "" "g.95108510T>C" "" "likely pathogenic" "" "0001026413" "0" "10" "14" "95566088" "95566088" "del" "0" "02329" "DICER1_000214" "g.95566088del" "" "" "" "DICER1(NM_177438.3):c.4206+29delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026414" "0" "50" "14" "95569775" "95569775" "subst" "0" "02329" "DICER1_000215" "g.95569775C>T" "" "" "" "DICER1(NM_177438.3):c.3958G>A (p.D1320N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026415" "0" "50" "14" "95592975" "95592975" "subst" "0" "02329" "DICER1_000216" "g.95592975T>C" "" "" "" "DICER1(NM_177438.3):c.845A>G (p.N282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026416" "0" "30" "14" "95595784" "95595784" "subst" "0" "02329" "DICER1_000217" "g.95595784A>G" "" "" "" "DICER1(NM_177438.3):c.734+25T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040179" "0" "10" "14" "95554142" "95554142" "subst" "0" "02327" "DICER1_000218" "g.95554142T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040180" "0" "10" "14" "95566102" "95566102" "del" "0" "02326" "DICER1_000187" "g.95566102del" "" "" "" "DICER1(NM_001195573.1):c.4206+15delG (p.(=)), DICER1(NM_177438.2):c.4206+9_4206+15delGTGTGTGinsGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040181" "0" "30" "14" "95569761" "95569761" "subst" "0.0020598" "01804" "DICER1_000162" "g.95569761C>T" "" "" "" "DICER1(NM_030621.4):c.3972G>A (p.K1324=), DICER1(NM_177438.2):c.3972G>A (p.K1324=), DICER1(NM_177438.3):c.3972G>A (p.(Lys1324=), p.K1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040182" "0" "50" "14" "95574408" "95574408" "subst" "0" "02327" "DICER1_000219" "g.95574408G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040183" "0" "90" "14" "95577653" "95577653" "subst" "0" "02327" "DICER1_000220" "g.95577653C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040184" "0" "90" "14" "95596409" "95596409" "subst" "0" "02327" "DICER1_000050" "g.95596409G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040185" "0" "30" "14" "95599737" "95599737" "subst" "0.000623815" "02325" "DICER1_000221" "g.95599737G>A" "" "" "" "DICER1(NM_177438.3):c.59C>T (p.A20V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044742" "0" "50" "14" "95574758" "95574758" "subst" "0" "03779" "DICER1_000222" "g.95574758G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001046485" "0" "70" "14" "95557629" "95557629" "subst" "0" "02327" "DICER1_000223" "g.95557629T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046486" "0" "50" "14" "95569942" "95569942" "subst" "1.62574E-5" "02325" "DICER1_000224" "g.95569942G>A" "" "" "" "DICER1(NM_177438.3):c.3791C>T (p.T1264M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046487" "0" "90" "14" "95570250" "95570250" "del" "0" "02327" "DICER1_000225" "g.95570250del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001048028" "0" "30" "14" "95562064" "95562064" "subst" "0" "03779" "DICER1_000226" "g.95562064C>T" "" "" "" "" "" "Unknown" "" "rs1890243834" "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 DICER1 ## Count = 308 "{{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}}" "0000163589" "00024226" "95" "328" "0" "338" "0" "c.328_338dup" "r.(?)" "p.(Gln249Serfs*23)" "4" "0000163590" "00024226" "95" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187*)" "5" "0000163591" "00024226" "95" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Gln249*)" "7" "0000163592" "00024226" "95" "876" "0" "879" "0" "c.876_879del" "r.0" "p.0" "7" "0000163593" "00024226" "95" "912" "0" "919" "0" "c.912_919dup" "r.(?)" "p.(Arg307Glnfs*8)" "8" "0000163594" "00024226" "95" "1128" "0" "1132" "0" "c.1128_1132del" "r.(?)" "p.(Lys376Asnfs*11)" "8" "0000163595" "00024226" "75" "1144" "0" "1144" "0" "c.1144G>T" "r.(?)" "p.(Glu382*)" "8" "0000163596" "00024226" "95" "1153" "0" "1153" "0" "c.1153del" "r.(?)" "p.(Arg385Alafs*73)" "8" "0000163597" "00024226" "95" "1165" "0" "1174" "0" "c.1165_1174dup" "r.(?)" "p.(Arg392Profs*3)" "8" "0000163598" "00024226" "95" "1196" "0" "1197" "0" "c.1196_1197dup" "r.(?)" "p.(Trp400Serfs*59)" "8" "0000163599" "00024226" "95" "1196" "0" "1197" "0" "c.1196_1197dup" "r.(?)" "p.(Trp400Serfs*59)" "8" "0000163600" "00024226" "75" "1198" "0" "1198" "0" "c.1198dup" "r.(?)" "p.(Trp400Leufs*3)" "8" "0000163601" "00024226" "95" "1284" "0" "1284" "0" "c.1284del" "r.(?)" "p.(K429Afs*47)" "8" "0000163602" "00024226" "95" "1306" "0" "1306" "0" "c.1306dup" "r.(?)" "p.(Ser436Phefs*41)" "8" "0000163603" "00024226" "95" "1376" "1" "1376" "1" "c.1376+1G>T" "r.(spl?)" "p.(Leu303Aspfs*16)" "8i" "0000163604" "00024226" "95" "1383" "0" "1386" "0" "c.1383_1386del" "r.(?)" "p.(Ile461Metfs*18)" "9" "0000163605" "00024226" "95" "1498" "0" "1498" "0" "c.1498A>T" "r.(?)" "p.(Lys500*)" "9" "0000163606" "00024226" "75" "1498" "0" "1498" "0" "c.1498A>T" "r.(?)" "p.(Lys500*)" "9" "0000163607" "00024226" "95" "1507" "0" "1507" "0" "c.1507G>T" "r.1507g>u" "p.Glu503*" "9" "0000163608" "00024226" "55" "1509" "0" "1509" "0" "c.1509G>A" "r.(spl?)" "p.(?)" "9" "0000163609" "00024226" "95" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509*)" "10" "0000163610" "00024226" "95" "1532" "0" "1533" "0" "c.1532_1533del" "r.(?)" "p.(His511Argfs*16)" "10" "0000163611" "00024226" "95" "1630" "0" "1630" "0" "c.1630C>T" "r.(?)" "p.(Arg544*)" "10" "0000163612" "00024226" "95" "1684" "0" "1685" "0" "c.1684_1685del" "r.(?)" "p.(Met562Valfs*11)" "10" "0000163613" "00024226" "95" "1716" "0" "1716" "0" "c.1716del" "r.(?)" "p.(Phe572Leufs*15)" "10" "0000163614" "00024226" "95" "1716" "0" "1716" "0" "c.1716del" "r.(?)" "p.(Phe572Leufs*15)" "10" "0000163615" "00024226" "95" "1801" "0" "1805" "0" "c.1801_1805dup" "r.(?)" "p.(Asp602Glufs*17)" "11" "0000163616" "00024226" "95" "1910" "0" "1910" "0" "c.1910dup" "r.(?)" "p.(Tyr637*)" "12" "0000163617" "00024226" "95" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656*)" "12" "0000163618" "00024226" "95" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656*)" "12" "0000163619" "00024226" "95" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656*)" "12" "0000163620" "00024226" "95" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656*)" "12" "0000163621" "00024226" "95" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676*)" "12" "0000163622" "00024226" "95" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676*)" "12" "0000163623" "00024226" "95" "2040" "1" "2040" "1" "c.2040+1G>T" "r.(spl?)" "p.(Tyr637Valfs*4)" "12i" "0000163624" "00024226" "95" "2040" "1" "2040" "1" "c.2040+1G>T" "r.(spl?)" "p.(Tyr637Valfs*4)" "12i" "0000163625" "00024226" "95" "2117" "-1" "2117" "-1" "c.2117-1G>A" "r.0 (NMD)" "p.0" "13i" "0000163626" "00024226" "75" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Arg745*)" "14" "0000163627" "00024226" "95" "2236" "0" "2236" "0" "c.2236A>G" "r.(?)" "p.(Arg746Gly)" "14" "0000163628" "00024226" "95" "2245" "0" "2248" "0" "c.2245_2248dup" "r.2245_2248dup" "p.Pro750Leufs*12" "14" "0000163629" "00024226" "95" "2246" "0" "2247" "0" "c.2246_2247insACTA" "r.(?)" "p.(Tyr749*)" "14" "0000163630" "00024226" "95" "2247" "0" "2247" "0" "c.2247C>A" "r.2247c>a" "p.Tyr749*" "14" "0000163631" "00024226" "75" "2256" "1" "2256" "1" "c.2256+1G>C" "r.(spl?)" "p.(?)" "14i" "0000163632" "00024226" "55" "2257" "-7" "2257" "-7" "c.2257-7A>G" "r.(spl?)" "p.(?)" "14i" "0000163633" "00024226" "95" "2268" "0" "2271" "0" "c.2268_2271del" "r.(?)" "p.(Cys756*)" "15" "0000163634" "00024226" "95" "2379" "0" "2379" "0" "c.2379T>G" "r.0 (NMD)" "p.0" "15" "0000163635" "00024226" "95" "2392" "0" "2392" "0" "c.2392dup" "r.2392dup" "p.Thr798Asnfs*33" "15" "0000163636" "00024226" "75" "2450" "0" "2450" "0" "c.2450del" "r.(?)" "p.(Pro817Leufs*15)" "16" "0000163637" "00024226" "95" "2457" "0" "2457" "0" "c.2457C>G" "r.2437_2457del" "p.Ile813_Tyr819del" "16" "0000163638" "00024226" "95" "2516" "0" "2516" "0" "c.2516C>T" "r.2516c>u" "p.Ser839Phe" "16" "0000163639" "00024226" "75" "2748" "0" "2748" "0" "c.2748del" "r.(?)" "p.(Glu917Lysfs*8)" "17" "0000163640" "00024226" "95" "2805" "-1" "2805" "-1" "c.2805-1G>T" "r.2805_2987del" "p.Tyr936_Arg996del" "17i" "0000163641" "00024226" "95" "2825" "0" "2825" "0" "c.2825del" "r.(?)" "p.(Pro942Leufs*6)" "18" "0000163642" "00024226" "95" "2830" "0" "2830" "0" "c.2830C>T" "r.(?)" "p.(Arg944*)" "18" "0000163643" "00024226" "95" "2863" "0" "2863" "0" "c.2863dup" "r.(?)" "p.(Thr955Asnfs*5)" "18" "0000163644" "00024226" "95" "2988" "-2" "2988" "-1" "c.2988-2_2988-1inv" "r.(spl?)" "p.(Leu997Tyrfs*34)" "18i" "0000163645" "00024226" "95" "3046" "0" "3046" "0" "c.3046del" "r.(?)" "p.(Ser1016Valfs*50)" "19" "0000163646" "00024226" "95" "3073" "0" "3073" "0" "c.3073G>T" "r.(?)" "p.(Glu1025*)" "19" "0000163647" "00024226" "95" "3073" "0" "3073" "0" "c.3073G>T" "r.(?)" "p.(Glu1025*)" "19" "0000163648" "00024226" "95" "3270" "-6" "4051" "-1280" "c.3270-6_4051-1280delinsG" "r.3270_4050del" "p.Tyr1091Ser*28" "21" "0000163649" "00024226" "95" "3273" "0" "3273" "0" "c.3273C>G" "r.(?)" "p.(Tyr1091*)" "21" "0000163650" "00024226" "95" "3277" "0" "3280" "0" "c.3277_3280del" "r.3277_3280del" "p.Asn1093*" "21" "0000163651" "00024226" "95" "3288" "0" "3289" "0" "c.3288_3289dup" "r.(?)" "p.(Gly1097Alafs*48)" "21" "0000163652" "00024226" "95" "3482" "0" "3482" "0" "c.3482del" "r.(?)" "p.(Pro1161Leufs*31)" "21" "0000163653" "00024226" "95" "3505" "0" "3505" "0" "c.3505del" "r.(?)" "p.(Ser1169Glnfs*23)" "21" "0000163654" "00024226" "95" "3505" "0" "3505" "0" "c.3505dup" "r.(?)" "p.(Ser1169Phefs*8)" "21" "0000163655" "00024226" "95" "3535" "0" "3538" "0" "c.3535_3538del" "r.(?)" "p.(Ser1179Thrfs*12)" "21" "0000163656" "00024226" "95" "3535" "0" "3538" "0" "c.3535_3538del" "r.(?)" "p.(Ser1179Thrfs*12)" "21" "0000163657" "00024226" "95" "3540" "0" "3540" "0" "c.3540C>A" "r.(?)" "p.(Tyr1180*)" "21" "0000163658" "00024226" "95" "3579" "0" "3580" "0" "c.3579_3580del" "r.(?)" "p.(Asn1193Lysfs*41)" "21" "0000163659" "00024226" "95" "3583" "0" "3584" "0" "c.3583_3584del" "r.(?)" "p.(Asp1195Leufs*39)" "21" "0000163660" "00024226" "95" "3589" "0" "3589" "0" "c.3589del" "r.(?)" "p.(Cys1197Alafs*6)" "21" "0000163661" "00024226" "95" "3611" "0" "3616" "0" "c.3611_3616delinsT" "r.(spl?)" "p.(Tyr1204Leufs*29)" "21" "0000163662" "00024226" "95" "3647" "0" "3647" "0" "c.3647C>A" "r.(?)" "p.(Ser1216*)" "21" "0000163663" "00024226" "95" "3665" "0" "3665" "0" "c.3665del" "r.(?)" "p.(Leu1222Tyrfs*17)" "21" "0000163664" "00024226" "95" "3726" "0" "3726" "0" "c.3726C>A" "r.(?)" "p.(Tyr1242*)" "21" "0000163665" "00024226" "95" "3749" "0" "3749" "0" "c.3749del" "r.(?)" "p.(Ser1250Leufs*8)" "21" "0000163666" "00024226" "95" "3777" "0" "3777" "0" "c.3777dup" "r.(?)" "p.(Val1260Argfs*19)" "21" "0000163667" "00024226" "95" "3793" "0" "3793" "0" "c.3793del" "r.(?)" "p.(Thr1265Glnfs*37)" "21" "0000163668" "00024226" "95" "3907" "0" "3908" "0" "c.3907_3908del" "r.(?)" "p.(Leu1303Valfs*4)" "21" "0000163669" "00024226" "95" "4050" "1" "4050" "1" "c.4050+1del" "r.0 (NMD)" "p.0" "21i" "0000163670" "00024226" "95" "4050" "1" "4050" "1" "c.4050+1G>A" "r.0" "p.0" "21i" "0000163671" "00024226" "55" "4139" "0" "4139" "0" "c.4139G>A" "r.(?)" "p.(Trp1380*)" "22" "0000163672" "00024226" "95" "4309" "0" "4312" "0" "c.4309_4312del" "r.(?)" "p.(Asp1437Metfs*16)" "23" "0000163673" "00024226" "95" "4309" "0" "4312" "0" "c.4309_4312del" "r.(?)" "p.(Asp1437Metfs*16)" "23" "0000163674" "00024226" "95" "4403" "0" "4406" "0" "c.4403_4406del" "r.(?)" "p.(Ser1468Phefs*21)" "23" "0000163675" "00024226" "95" "4407" "0" "4410" "0" "c.4407_4410del" "r.(?)" "p.(Ser1470Leufs*19)" "23" "0000163676" "00024226" "95" "4407" "0" "4410" "0" "c.4407_4410del" "r.(?)" "p.(Ser1470Leufs*19)" "23" "0000163677" "00024226" "95" "4426" "0" "4427" "0" "c.4426_4427insT" "r.(?)" "p.(Asp1476Valfs*5)" "23" "0000163678" "00024226" "95" "4517" "0" "4517" "0" "c.4517G>A" "r.(?)" "p.(Trp1506*)" "23" "0000163679" "00024226" "95" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Glu1519Lysfs*41)" "23" "0000163680" "00024226" "95" "4633" "0" "4633" "0" "c.4633dup" "r.(?)" "p.(Ser1545Phefs*7)" "23" "0000163681" "00024226" "95" "4748" "0" "4748" "0" "c.4748T>G" "r.(?)" "p.(Leu1583Arg)" "23" "0000163682" "00024226" "95" "4754" "0" "4754" "0" "c.4754C>G" "r.(?)" "p.(Ser1585*)" "23" "0000163683" "00024226" "95" "4960" "0" "4961" "0" "c.4960_4961dup" "r.(?)" "p.(Asp1654Glufs*7)" "23" "0000163684" "00024226" "75" "4963" "0" "4964" "0" "c.4963_4964del" "r.(?)" "p.(Ala1655Argfs*2)" "23" "0000163685" "00024226" "75" "5003" "0" "5003" "0" "c.5003dup" "r.(?)" "p.(Asn1668Lysfs*3)" "23" "0000163686" "00024226" "95" "5018" "0" "5021" "0" "c.5018_5021del" "r.0" "p.0" "23" "0000163687" "00024226" "55" "5096" "-12" "5096" "-12" "c.5096-12G>A" "r.(spl?)" "p.(Asp1699AlaFS*8)" "23i" "0000163688" "00024226" "55" "5096" "-12" "5096" "-12" "c.5096-12G>A" "r.(spl?)" "p.(Asp1699AlaFS*8)" "23i" "0000163689" "00024226" "95" "5103" "0" "5103" "0" "c.5103C>A" "r.(?)" "p.(Tyr1701*)" "24" "0000163690" "00024226" "95" "5104" "0" "5104" "0" "c.5104C>T" "r.(?)" "p.(Gln1702*)" "24" "0000163691" "00024226" "95" "5122" "0" "5128" "0" "c.5122_5128del" "r.(?)" "p.(Gly1708Argfs*7)" "24" "0000163692" "00024226" "95" "5125" "0" "5125" "0" "c.5125G>A" "r.(?)" "p.(Asp1709Asn)" "24" "0000163693" "00024226" "95" "5125" "0" "5125" "0" "c.5125G>A" "r.(?)" "p.(Asp1709Asn)" "24" "0000163694" "00024226" "95" "5125" "0" "5125" "0" "c.5125G>C" "r.(?)" "p.(Asp1709His)" "24" "0000163695" "00024226" "95" "5125" "0" "5125" "0" "c.5125G>T" "r.(?)" "p.(Asp1709Tyr)" "24" "0000163696" "00024226" "95" "5126" "0" "5126" "0" "c.5126A>G" "r.(?)" "p.(Asp1709Gly)" "24" "0000163697" "00024226" "95" "5138" "0" "5138" "0" "c.5138A>T" "r.(?)" "p.(Asp1713Val)" "24" "0000163698" "00024226" "95" "5221" "0" "5232" "0" "c.5221_5232del" "r.(?)" "p.(Asn1741_Ile1744del)" "24" "0000163699" "00024226" "95" "5394" "0" "5394" "0" "c.5394del" "r.(?)" "p.(Glu1799Lysfs*39)" "25" "0000163700" "00024226" "95" "5425" "0" "5425" "0" "c.5425G>A" "r.(?)" "p.(Gly1809Arg)" "25" "0000163701" "00024226" "95" "5428" "0" "5428" "0" "c.5428G>T" "r.(?)" "p.(Asp1810Tyr)" "25" "0000163702" "00024226" "95" "5437" "0" "5437" "0" "c.5437G>C" "r.(?)" "p.(Glu1813Gln)" "25" "0000163703" "00024226" "95" "5439" "0" "5439" "0" "c.5439G>C" "r.(?)" "p.(Glu1813Asp)" "25" "0000163704" "00024226" "95" "5460" "0" "5460" "0" "c.5460C>G" "r.(?)" "p.(Tyr1820*)" "25" "0000163705" "00024226" "95" "5465" "0" "5465" "0" "c.5465A>T" "r.(?)" "p.(Asp1822Val)" "25" "0000163706" "00024226" "95" "5477" "0" "5477" "0" "c.5477C>A" "r.(?)" "p.(Ser1826*)" "25" "0000163707" "00024226" "75" "5493" "0" "5493" "0" "c.5493G>A" "r.(?)" "p.(Trp1831*)" "25" "0000248250" "00024226" "30" "4891" "0" "4891" "0" "c.4891T>G" "r.(?)" "p.(Ser1631Ala)" "" "0000250024" "00024226" "30" "4891" "0" "4891" "0" "c.4891T>G" "r.(?)" "p.(Ser1631Ala)" "" "0000250122" "00024226" "10" "3198" "0" "3198" "0" "c.3198T>C" "r.(?)" "p.(Thr1066=)" "" "0000250123" "00024226" "10" "2997" "0" "2997" "0" "c.2997T>G" "r.(?)" "p.(Leu999=)" "" "0000251691" "00024226" "30" "4891" "0" "4891" "0" "c.4891T>G" "r.(?)" "p.(Ser1631Ala)" "" "0000252240" "00024226" "30" "1510" "-4" "1510" "-4" "c.1510-4del" "r.spl?" "p.?" "" "0000255291" "00024226" "30" "5527" "7" "5527" "7" "c.5527+7T>A" "r.(=)" "p.(=)" "" "0000256224" "00024226" "50" "5643" "0" "5643" "0" "c.5643T>C" "r.(?)" "p.(Thr1881=)" "" "0000267387" "00024226" "30" "3465" "0" "3465" "0" "c.3465G>A" "r.(?)" "p.(Thr1155=)" "" "0000267388" "00024226" "30" "4206" "11" "4206" "11" "c.4206+11del" "r.(=)" "p.(=)" "" "0000267389" "00024226" "10" "4206" "19" "4206" "19" "c.4206+19del" "r.(=)" "p.(=)" "" "0000267390" "00024226" "10" "4206" "37" "4206" "48" "c.4206+37_4206+48del" "r.(=)" "p.(=)" "" "0000267391" "00024226" "10" "4206" "35" "4206" "48" "c.4206+35_4206+48del" "r.(=)" "p.(=)" "" "0000267392" "00024226" "10" "4206" "9" "4206" "11" "c.4206+9_4206+11del" "r.(=)" "p.(=)" "" "0000267393" "00024226" "10" "4206" "9" "4206" "19" "c.4206+9_4206+19del" "r.(=)" "p.(=)" "" "0000267394" "00024226" "30" "4206" "9" "4206" "9" "c.4206+9del" "r.(=)" "p.(=)" "" "0000267395" "00024226" "30" "439" "-7" "439" "-7" "c.439-7A>T" "r.(=)" "p.(=)" "" "0000267396" "00024226" "30" "5145" "0" "5145" "0" "c.5145C>T" "r.(?)" "p.(Leu1715=)" "" "0000268665" "00024226" "30" "20" "0" "20" "0" "c.20A>G" "r.(?)" "p.(Gln7Arg)" "" "0000268666" "00024226" "30" "2209" "0" "2209" "0" "c.2209C>T" "r.(?)" "p.(Pro737Ser)" "" "0000268667" "00024226" "10" "3033" "0" "3033" "0" "c.3033G>A" "r.(?)" "p.(Ala1011=)" "" "0000268668" "00024226" "30" "4206" "13" "4206" "13" "c.4206+13del" "r.(=)" "p.(=)" "" "0000268669" "00024226" "30" "4206" "11" "4206" "11" "c.4206+11del" "r.(=)" "p.(=)" "" "0000268670" "00024226" "30" "4206" "17" "4206" "17" "c.4206+17del" "r.(=)" "p.(=)" "" "0000268672" "00024226" "30" "4206" "21" "4206" "21" "c.4206+21del" "r.(=)" "p.(=)" "" "0000268673" "00024226" "10" "4206" "9" "4206" "27" "c.4206+9_4206+27del" "r.(=)" "p.(=)" "" "0000268674" "00024226" "30" "439" "-7" "439" "-7" "c.439-7A>T" "r.(=)" "p.(=)" "" "0000268675" "00024226" "10" "4680" "0" "4680" "0" "c.4680G>A" "r.(?)" "p.(Ala1560=)" "" "0000268676" "00024226" "30" "5145" "0" "5145" "0" "c.5145C>T" "r.(?)" "p.(Leu1715=)" "" "0000268677" "00024226" "10" "5241" "0" "5241" "0" "c.5241G>A" "r.(?)" "p.(Ser1747=)" "" "0000270809" "00024226" "30" "20" "0" "20" "0" "c.20A>G" "r.(?)" "p.(Gln7Arg)" "" "0000270810" "00024226" "10" "4206" "9" "4206" "11" "c.4206+9_4206+11del" "r.(=)" "p.(=)" "" "0000270811" "00024226" "10" "4206" "11" "4206" "11" "c.4206+11del" "r.(=)" "p.(=)" "" "0000270812" "00024226" "10" "4206" "13" "4206" "13" "c.4206+13del" "r.(=)" "p.(=)" "" "0000270813" "00024226" "10" "4206" "9" "4206" "9" "c.4206+9del" "r.(=)" "p.(=)" "" "0000270814" "00024226" "30" "4260" "0" "4262" "0" "c.4260_4262del" "r.(?)" "p.(Glu1420del)" "" "0000275024" "00024226" "90" "1144" "0" "1144" "0" "c.1144G>T" "r.(?)" "p.(Glu382Ter)" "" "0000275025" "00024226" "90" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Gln394Ter)" "" "0000275027" "00024226" "90" "1498" "0" "1498" "0" "c.1498A>T" "r.(?)" "p.(Lys500Ter)" "" "0000275028" "00024226" "30" "20" "0" "20" "0" "c.20A>G" "r.(?)" "p.(Gln7Arg)" "" "0000275029" "00024226" "90" "2256" "1" "2256" "1" "c.2256+1G>C" "r.spl?" "p.?" "" "0000275030" "00024226" "50" "2257" "-7" "2257" "-7" "c.2257-7A>G" "r.(=)" "p.(=)" "" "0000275031" "00024226" "30" "2370" "0" "2370" "0" "c.2370G>A" "r.(?)" "p.(Arg790=)" "" "0000275032" "00024226" "90" "2450" "0" "2450" "0" "c.2450del" "r.(?)" "p.(Pro817LeufsTer15)" "" "0000275033" "00024226" "30" "2658" "0" "2658" "0" "c.2658C>T" "r.(?)" "p.(Asp886=)" "" "0000275034" "00024226" "90" "2748" "0" "2748" "0" "c.2748del" "r.(?)" "p.(Glu917LysfsTer8)" "" "0000275035" "00024226" "10" "3033" "0" "3033" "0" "c.3033G>A" "r.(?)" "p.(Ala1011=)" "" "0000275036" "00024226" "90" "3427" "0" "3428" "0" "c.3427_3428del" "r.(?)" "p.(Leu1143ArgfsTer4)" "" "0000275037" "00024226" "90" "3726" "0" "3726" "0" "c.3726C>A" "r.(?)" "p.(Tyr1242Ter)" "" "0000275038" "00024226" "30" "3767" "0" "3767" "0" "c.3767C>T" "r.(?)" "p.(Pro1256Leu)" "" "0000275039" "00024226" "50" "383" "0" "383" "0" "c.383A>C" "r.(?)" "p.(Glu128Ala)" "" "0000275041" "00024226" "10" "4206" "9" "4206" "9" "c.4206+9G>T" "r.(=)" "p.(=)" "" "0000275042" "00024226" "50" "4260" "0" "4262" "0" "c.4260_4262del" "r.(?)" "p.(Glu1420del)" "" "0000275043" "00024226" "50" "4368" "0" "4368" "0" "c.4368G>A" "r.(?)" "p.(Met1456Ile)" "" "0000275044" "00024226" "10" "4680" "0" "4680" "0" "c.4680G>A" "r.(?)" "p.(Ala1560=)" "" "0000275045" "00024226" "90" "4963" "0" "4964" "0" "c.4963_4964del" "r.(?)" "p.(Ala1655ArgfsTer2)" "" "0000275047" "00024226" "90" "5320" "0" "5320" "0" "c.5320C>T" "r.(?)" "p.(Gln1774Ter)" "" "0000275048" "00024226" "90" "5441" "0" "5441" "0" "c.5441C>T" "r.(?)" "p.(Ser1814Leu)" "" "0000275049" "00024226" "90" "5493" "0" "5493" "0" "c.5493G>A" "r.(?)" "p.(Trp1831Ter)" "" "0000323829" "00024226" "50" "4260" "0" "4262" "0" "c.4260_4262del" "r.(?)" "p.(Glu1420del)" "" "0000323830" "00024226" "50" "2108" "0" "2108" "0" "c.2108A>G" "r.(?)" "p.(His703Arg)" "" "0000338944" "00024226" "10" "4206" "9" "4206" "9" "c.4206+9G>T" "r.(=)" "p.(=)" "" "0000338945" "00024226" "90" "734" "1" "734" "1" "c.734+1G>C" "r.spl?" "p.?" "" "0000340589" "00024226" "10" "5145" "0" "5145" "0" "c.5145C>T" "r.(?)" "p.(Leu1715=)" "" "0000347312" "00024226" "70" "2414" "0" "2414" "0" "c.2414T>C" "r.(?)" "p.(Leu805Pro)" "" "0000500469" "00024226" "90" "5563" "0" "5563" "0" "c.5563C>T" "r.(?)" "p.(Arg1855*)" "" "0000553468" "00024226" "30" "5643" "0" "5643" "0" "c.5643T>C" "r.(?)" "p.(Thr1881=)" "" "0000553469" "00024226" "30" "5145" "0" "5145" "0" "c.5145C>T" "r.(?)" "p.(Leu1715=)" "" "0000553470" "00024226" "10" "5095" "13" "5095" "13" "c.5095+13C>T" "r.(=)" "p.(=)" "" "0000553471" "00024226" "90" "5003" "0" "5003" "0" "c.5003dup" "r.(?)" "p.(Asn1668LysfsTer3)" "" "0000553472" "00024226" "10" "4680" "0" "4680" "0" "c.4680G>A" "r.(?)" "p.(Ala1560=)" "" "0000553473" "00024226" "50" "4460" "0" "4460" "0" "c.4460C>T" "r.(?)" "p.(Ser1487Phe)" "" "0000553474" "00024226" "30" "4207" "-3" "4207" "-3" "c.4207-3C>T" "r.spl?" "p.?" "" "0000553475" "00024226" "10" "4206" "9" "4206" "17" "c.4206+9_4206+17del" "r.(=)" "p.(=)" "" "0000553476" "00024226" "10" "4206" "9" "4206" "17" "c.4206+9_4206+17del" "r.(=)" "p.(=)" "" "0000553477" "00024226" "10" "4206" "7" "4206" "8" "c.4206+7_4206+8dup" "r.(=)" "p.(=)" "" "0000553478" "00024226" "90" "4139" "0" "4139" "0" "c.4139G>A" "r.(?)" "p.(Trp1380Ter)" "" "0000553479" "00024226" "30" "3972" "0" "3972" "0" "c.3972G>A" "r.(?)" "p.(Lys1324=)" "" "0000553480" "00024226" "30" "3972" "0" "3972" "0" "c.3972G>A" "r.(?)" "p.(Lys1324=)" "" "0000553481" "00024226" "30" "3972" "0" "3972" "0" "c.3972G>A" "r.(?)" "p.(Lys1324=)" "" "0000553482" "00024226" "90" "3540" "0" "3540" "0" "c.3540C>G" "r.(?)" "p.(Tyr1180Ter)" "" "0000553483" "00024226" "10" "3033" "0" "3033" "0" "c.3033G>A" "r.(?)" "p.(Ala1011=)" "" "0000553484" "00024226" "90" "2524" "0" "2524" "0" "c.2524del" "r.(?)" "p.(Met842CysfsTer4)" "" "0000553485" "00024226" "90" "2524" "0" "2524" "0" "c.2524del" "r.(?)" "p.(Met842CysfsTer4)" "" "0000553486" "00024226" "90" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Arg745Ter)" "" "0000553487" "00024226" "10" "1935" "0" "1935" "0" "c.1935G>A" "r.(?)" "p.(Pro645=)" "" "0000553488" "00024226" "10" "1935" "0" "1935" "0" "c.1935G>A" "r.(?)" "p.(Pro645=)" "" "0000553489" "00024226" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Ter)" "" "0000553490" "00024226" "50" "1509" "0" "1509" "0" "c.1509G>A" "r.(?)" "p.(Glu503=)" "" "0000553491" "00024226" "90" "1198" "0" "1198" "0" "c.1198dup" "r.(?)" "p.(Trp400LeufsTer3)" "" "0000599055" "00024226" "10" "4206" "9" "4206" "9" "c.4206+9G>T" "r.(?)" "p.(=)" "22i" "0000599056" "00024226" "10" "4206" "9" "4206" "9" "c.4206+9G>T" "r.(?)" "p.(=)" "22i" "0000599057" "00024226" "10" "1377" "-4" "1377" "-4" "c.1377-4T>G" "r.(?)" "p.(=)" "8i" "0000599058" "00024226" "10" "4206" "9" "4206" "9" "c.4206+9G>T" "r.(?)" "p.(=)" "22i" "0000623184" "00024226" "30" "1377" "-4" "1377" "-4" "c.1377-4T>G" "r.spl?" "p.?" "" "0000653362" "00024226" "50" "1377" "-4" "1377" "-4" "c.1377-4T>G" "r.(?)" "p.(?)" "" "0000653472" "00024226" "90" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676*)" "" "0000657516" "00024226" "50" "2651" "-14" "2651" "-14" "c.2651-14T>G" "r.(=)" "p.(=)" "" "0000659778" "00024226" "50" "2436" "4" "2436" "7" "c.2436+4_2436+7del" "r.spl?" "p.?" "" "0000680085" "00024226" "50" "3179" "0" "3179" "0" "c.3179G>A" "r.(?)" "p.(Arg1060His)" "" "0000680086" "00024226" "10" "2370" "0" "2370" "0" "c.2370G>A" "r.(?)" "p.(Arg790=)" "" "0000680087" "00024226" "30" "1800" "0" "1800" "0" "c.1800C>T" "r.(?)" "p.(Asp600=)" "" "0000682772" "00024226" "70" "573" "1" "573" "1" "c.573+1G>A" "r.spl?" "p.?" "" "0000691739" "00024226" "50" "5504" "0" "5504" "0" "c.5504A>G" "r.(?)" "p.(Tyr1835Cys)" "" "0000691740" "00024226" "30" "4260" "0" "4262" "0" "c.4260_4262del" "r.(?)" "p.(Glu1420del)" "" "0000691741" "00024226" "90" "4007" "0" "4007" "0" "c.4007del" "r.(?)" "p.(Pro1336LeufsTer11)" "" "0000691742" "00024226" "90" "3072" "0" "3072" "0" "c.3072G>A" "r.(?)" "p.(Trp1024Ter)" "" "0000724928" "00024226" "90" "5095" "1" "5095" "1" "c.5095+1G>A" "r.spl?" "p.?" "" "0000724929" "00024226" "50" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821Cys)" "" "0000724930" "00024226" "90" "1907" "1" "1907" "1" "c.1907+1G>A" "r.spl?" "p.?" "" "0000724931" "00024226" "30" "1509" "10" "1509" "10" "c.1509+10A>G" "r.(=)" "p.(=)" "" "0000724932" "00024226" "30" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Gly162Asp)" "" "0000724933" "00024226" "30" "20" "0" "20" "0" "c.20A>G" "r.(?)" "p.(Gln7Arg)" "" "0000750028" "00024226" "50" "2040" "5" "2040" "5" "c.2040+5G>A" "r.(?)" "p.(?)" "" "0000806544" "00024226" "10" "2116" "65" "2116" "65" "c.2116+65A>T" "r.(=)" "p.(=)" "" "0000833993" "00024226" "90" "4031" "0" "4031" "0" "c.4031C>T" "r.(?)" "p.(Ser1344Leu)" "" "0000833994" "00024226" "90" "0" "0" "0" "0" "c.-238_*4270{0}" "r.0" "p.0" "_1_27_" "0000853924" "00024226" "90" "5364" "1181" "5364" "1181" "c.5364+1181A>G" "r.(=)" "p.(=)" "" "0000853925" "00024226" "30" "5145" "0" "5145" "0" "c.5145C>T" "r.(?)" "p.(Leu1715=)" "" "0000853926" "00024226" "50" "3353" "0" "3353" "0" "c.3353A>G" "r.(?)" "p.(Asn1118Ser)" "" "0000853927" "00024226" "10" "2370" "0" "2370" "0" "c.2370G>A" "r.(?)" "p.(Arg790=)" "" "0000853928" "00024226" "10" "1825" "0" "1825" "0" "c.1825G>T" "r.(?)" "p.(Asp609Tyr)" "" "0000863720" "00024226" "90" "5171" "0" "5171" "0" "c.5171dup" "r.(?)" "p.(Arg1725Alafs*40)" "" "0000863721" "00024226" "30" "4206" "9" "4206" "27" "c.4206+9_4206+27del" "r.(=)" "p.(=)" "" "0000863722" "00024226" "10" "4206" "19" "4206" "19" "c.4206+19del" "r.(=)" "p.(=)" "" "0000863723" "00024226" "10" "4206" "9" "4206" "17" "c.4206+9_4206+17del" "r.(=)" "p.(=)" "" "0000863724" "00024226" "10" "4206" "17" "4206" "17" "c.4206+17del" "r.(=)" "p.(=)" "" "0000863725" "00024226" "30" "4206" "9" "4206" "15" "c.4206+9_4206+15del" "r.(=)" "p.(=)" "" "0000863726" "00024226" "10" "4206" "15" "4206" "15" "c.4206+15del" "r.(=)" "p.(=)" "" "0000863727" "00024226" "10" "4206" "9" "4206" "13" "c.4206+9_4206+13del" "r.(=)" "p.(=)" "" "0000863728" "00024226" "10" "4206" "13" "4206" "13" "c.4206+13del" "r.(=)" "p.(=)" "" "0000863729" "00024226" "30" "3972" "0" "3972" "0" "c.3972G>A" "r.(?)" "p.(Lys1324=)" "" "0000863730" "00024226" "50" "2614" "0" "2614" "0" "c.2614G>A" "r.(?)" "p.(Ala872Thr)" "" "0000863731" "00024226" "10" "1935" "0" "1935" "0" "c.1935G>A" "r.(?)" "p.(Pro645=)" "" "0000863732" "00024226" "30" "1377" "-4" "1377" "-4" "c.1377-4T>G" "r.spl?" "p.?" "" "0000863733" "00024226" "50" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Ala357Val)" "" "0000863734" "00024226" "50" "383" "0" "383" "0" "c.383A>C" "r.(?)" "p.(Glu128Ala)" "" "0000881323" "00024226" "90" "2683" "0" "2683" "0" "c.2683dup" "r.(?)" "p.(Phe896Ilefs*6)" "" "0000882023" "00024226" "50" "3334" "0" "3334" "0" "c.3334A>G" "r.(?)" "p.(Asn1112Asp)" "" "0000891943" "00024226" "10" "4206" "9" "4206" "21" "c.4206+9_4206+21del" "r.(=)" "p.(=)" "" "0000891944" "00024226" "30" "4206" "19" "4206" "19" "c.4206+19del" "r.(=)" "p.(=)" "" "0000891945" "00024226" "10" "4206" "19" "4206" "19" "c.4206+19del" "r.(=)" "p.(=)" "" "0000891946" "00024226" "10" "4206" "9" "4206" "17" "c.4206+9_4206+17del" "r.(=)" "p.(=)" "" "0000891947" "00024226" "30" "4206" "17" "4206" "17" "c.4206+17del" "r.(=)" "p.(=)" "" "0000891948" "00024226" "30" "4206" "9" "4206" "15" "c.4206+9_4206+15del" "r.(=)" "p.(=)" "" "0000891949" "00024226" "30" "3972" "0" "3972" "0" "c.3972G>A" "r.(?)" "p.(Lys1324=)" "" "0000891950" "00024226" "10" "3198" "0" "3198" "0" "c.3198T>C" "r.(?)" "p.(Thr1066=)" "" "0000891951" "00024226" "10" "2557" "0" "2557" "0" "c.2557A>G" "r.(?)" "p.(Ile853Val)" "" "0000891952" "00024226" "10" "1887" "0" "1887" "0" "c.1887G>A" "r.(?)" "p.(Thr629=)" "" "0000914253" "00024226" "30" "5145" "0" "5145" "0" "c.5145C>T" "r.(?)" "p.(Leu1715=)" "" "0000914254" "00024226" "90" "4605" "0" "4606" "0" "c.4605_4606del" "r.(?)" "p.(Cys1535Trpfs*3)" "" "0000914255" "00024226" "10" "1377" "-4" "1377" "-4" "c.1377-4T>G" "r.spl?" "p.?" "" "0000925932" "00024226" "30" "3792" "0" "3792" "0" "c.3792G>A" "r.(?)" "p.(Thr1264=)" "" "0000930351" "00024226" "10" "5241" "0" "5241" "0" "c.5241G>A" "r.(?)" "p.(Ser1747=)" "" "0000930352" "00024226" "10" "5095" "13" "5095" "13" "c.5095+13C>T" "r.(=)" "p.(=)" "" "0000930353" "00024226" "90" "4139" "0" "4139" "0" "c.4139G>A" "r.(?)" "p.(Trp1380Ter)" "" "0000950305" "00024226" "30" "1510" "-4" "1510" "-4" "c.1510-4del" "r.spl?" "p.?" "" "0000967614" "00024226" "90" "2669" "0" "2669" "0" "c.2669del" "r.(?)" "p.(Leu890Trpfs*18)" "" "0000981085" "00024226" "50" "5504" "0" "5504" "0" "c.5504A>C" "r.(?)" "p.(Tyr1835Ser)" "" "0000981086" "00024226" "50" "2986" "0" "2986" "0" "c.2986A>G" "r.(?)" "p.(Arg996Gly)" "" "0000989405" "00024226" "70" "4408" "0" "4408" "0" "c.4408dup" "r.(?)" "p.(Ser1470PhefsTer7)" "" "0001001214" "00024226" "50" "5335" "0" "5335" "0" "c.5335A>G" "r.(?)" "p.(Lys1779Glu)" "" "0001001215" "00024226" "50" "4616" "0" "4616" "0" "c.4616C>T" "r.(?)" "p.(Thr1539Met)" "" "0001001216" "00024226" "50" "4376" "0" "4376" "0" "c.4376G>A" "r.(?)" "p.(Gly1459Glu)" "" "0001001217" "00024226" "30" "4265" "0" "4265" "0" "c.4265A>T" "r.(?)" "p.(Glu1422Val)" "" "0001001218" "00024226" "50" "4258" "0" "4258" "0" "c.4258del" "r.(?)" "p.(Glu1420Argfs*8)" "" "0001001219" "00024226" "30" "3811" "0" "3811" "0" "c.3811C>T" "r.(?)" "p.(Leu1271Phe)" "" "0001001220" "00024226" "50" "3046" "0" "3046" "0" "c.3046A>G" "r.(?)" "p.(Ser1016Gly)" "" "0001001221" "00024226" "30" "481" "0" "481" "0" "c.481A>G" "r.(?)" "p.(Asn161Asp)" "" "0001015183" "00024226" "10" "5241" "0" "5241" "0" "c.5241G>A" "r.(?)" "p.(Ser1747=)" "" "0001015184" "00024226" "10" "2614" "0" "2614" "0" "c.2614G>A" "r.(?)" "p.(Ala872Thr)" "" "0001015185" "00024226" "90" "691" "0" "691" "0" "c.691A>T" "r.(?)" "p.(Lys231*)" "" "0001022109" "00024226" "70" "2257" "-7" "2257" "-7" "c.2257-7A>G" "r.[2256_2257ins2257-6_2257-1,=]" "p.[Ala752LeufsTer1,=]" "14i" "0001026413" "00024226" "10" "4206" "29" "4206" "29" "c.4206+29del" "r.(=)" "p.(=)" "" "0001026414" "00024226" "50" "3958" "0" "3958" "0" "c.3958G>A" "r.(?)" "p.(Asp1320Asn)" "" "0001026415" "00024226" "50" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asn282Ser)" "" "0001026416" "00024226" "30" "734" "25" "734" "25" "c.734+25T>C" "r.(=)" "p.(=)" "" "0001040179" "00024226" "10" "8462" "0" "8462" "0" "c.*2693A>G" "r.(=)" "p.(=)" "" "0001040180" "00024226" "10" "4206" "15" "4206" "15" "c.4206+15del" "r.(=)" "p.(=)" "" "0001040181" "00024226" "30" "3972" "0" "3972" "0" "c.3972G>A" "r.(?)" "p.(Lys1324=)" "" "0001040182" "00024226" "50" "2459" "0" "2459" "0" "c.2459C>G" "r.(?)" "p.(Thr820Arg)" "" "0001040183" "00024226" "90" "2256" "1" "2256" "1" "c.2256+1G>T" "r.spl?" "p.?" "" "0001040184" "00024226" "90" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187*)" "" "0001040185" "00024226" "30" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Ala20Val)" "" "0001044742" "00024226" "50" "2339" "0" "2339" "0" "c.2339C>G" "r.(?)" "p.(Pro780Arg)" "" "0001046485" "00024226" "70" "5438" "0" "5438" "0" "c.5438A>G" "r.(?)" "p.(Glu1813Gly)" "" "0001046486" "00024226" "50" "3791" "0" "3791" "0" "c.3791C>T" "r.(?)" "p.(Thr1264Met)" "" "0001046487" "00024226" "90" "3483" "0" "3483" "0" "c.3483del" "r.(?)" "p.(Gly1162Valfs*30)" "" "0001048028" "00024226" "30" "5095" "98" "5095" "98" "c.5095+98G>A" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 134 "{{screeningid}}" "{{variantid}}" "0000101085" "0000163607" "0000101086" "0000163617" "0000101087" "0000163681" "0000101088" "0000163657" "0000101089" "0000163630" "0000101090" "0000163611" "0000101091" "0000163642" "0000101092" "0000163668" "0000101093" "0000163661" "0000101094" "0000163625" "0000101095" "0000163593" "0000101096" "0000163669" "0000101097" "0000163618" "0000101098" "0000163602" "0000101099" "0000163592" "0000101100" "0000163637" "0000101101" "0000163686" "0000101102" "0000163638" "0000101103" "0000163640" "0000101104" "0000163672" "0000101105" "0000163706" "0000101106" "0000163635" "0000101107" "0000163616" "0000101108" "0000163612" "0000101109" "0000163628" "0000101110" "0000163594" "0000101111" "0000163648" "0000101112" "0000163601" "0000101113" "0000163605" "0000101114" "0000163609" "0000101115" "0000163621" "0000101116" "0000163622" "0000101117" "0000163634" "0000101118" "0000163641" "0000101119" "0000163650" "0000101120" "0000163654" "0000101121" "0000163655" "0000101122" "0000163656" "0000101123" "0000163658" "0000101124" "0000163670" "0000101125" "0000163675" "0000101126" "0000163679" "0000101127" "0000163680" "0000101128" "0000163682" "0000101129" "0000163694" "0000101130" "0000163698" "0000101131" "0000163689" "0000101132" "0000163673" "0000101133" "0000163690" "0000101134" "0000163695" "0000101135" "0000163697" "0000101136" "0000163615" "0000101137" "0000163590" "0000101138" "0000163623" "0000101139" "0000163649" "0000101140" "0000163660" "0000101141" "0000163676" "0000101142" "0000163678" "0000101143" "0000163683" "0000101144" "0000163699" "0000101145" "0000163662" "0000101146" "0000163645" "0000101147" "0000163603" "0000101148" "0000163629" "0000101149" "0000163646" "0000101150" "0000163647" "0000101151" "0000163666" "0000101152" "0000163604" "0000101153" "0000163643" "0000101154" "0000163652" "0000101155" "0000163665" "0000101156" "0000163704" "0000101157" "0000163589" "0000101158" "0000163596" "0000101159" "0000163598" "0000101160" "0000163613" "0000101161" "0000163619" "0000101162" "0000163620" "0000101163" "0000163624" "0000101164" "0000163633" "0000101165" "0000163644" "0000101166" "0000163651" "0000101167" "0000163653" "0000101168" "0000163659" "0000101169" "0000163663" "0000101170" "0000163664" "0000101171" "0000163667" "0000101172" "0000163674" "0000101173" "0000163691" "0000101174" "0000163705" "0000101175" "0000163595" "0000101176" "0000163600" "0000101177" "0000163606" "0000101178" "0000163608" "0000101179" "0000163626" "0000101180" "0000163631" "0000101181" "0000163632" "0000101182" "0000163636" "0000101183" "0000163639" "0000101184" "0000163671" "0000101185" "0000163684" "0000101186" "0000163685" "0000101187" "0000163707" "0000101188" "0000163687" "0000101189" "0000163688" "0000101190" "0000163597" "0000101191" "0000163677" "0000101192" "0000163591" "0000101193" "0000163627" "0000101194" "0000163614" "0000101195" "0000163696" "0000101196" "0000163692" "0000101197" "0000163701" "0000101198" "0000163693" "0000101199" "0000163702" "0000101200" "0000163703" "0000101201" "0000163700" "0000101202" "0000163599" "0000101203" "0000163610" "0000247623" "0000500469" "0000267605" "0000599057" "0000267605" "0000599058" "0000267607" "0000599055" "0000267611" "0000599056" "0000296671" "0000653362" "0000296764" "0000653472" "0000297153" "0000659778" "0000308404" "0000682772" "0000355171" "0000750028" "0000400969" "0000833993" "0000400969" "0000833994" "0000420964" "0000881323" "0000421304" "0000882023" "0000462582" "0001022109"