### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNF43) # 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}}" "RNF43" "ring finger protein 43" "17" "q23.2" "unknown" "NC_000017.10" "UD_136019808263" "" "https://www.LOVD.nl/RNF43" "" "1" "18505" "54894" "612482" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-03 09:40:28" "00006" "2025-12-23 10:43:50" ## 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}}" "00017884" "RNF43" "ring finger protein 43" "001" "NM_017763.4" "" "NP_060233.3" "" "" "" "-939" "3619" "2352" "56494931" "56431037" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00315" "cancer, bladder" "cancer, bladder" "" "109800" "" "" "" "00006" "2014-01-28 14:01:22" "" "" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00423" "-" "cancer, endometrial" "AD;SMu" "608089" "" "" "" "00006" "2014-06-18 09:01:15" "00006" "2021-12-10 21:51:32" "00424" "cancer, ovarian" "cancer, ovarian" "" "167000" "" "" "" "00006" "2014-06-18 09:01:54" "" "" "00598" "-" "cancer, cervical, somatic" "" "603956" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00927" "-" "cancer, colorectal, somatic" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01524" "cancer, prostate" "cancer, prostate" "AD;SMu" "176807" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05087" "STS" "sarcoma, soft tissue (STS)" "" "" "" "" "" "00006" "2015-10-23 12:08:53" "" "" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05154" "cancer, skin" "cancer, skin" "" "" "" "" "" "00006" "2016-04-14 15:55:23" "" "" "05488" "SSPCS" "cancer, polyposis, sessile serrated syndrome (SSPCS)" "AD" "617108" "" "autosomal dominant" "" "00006" "2018-10-26 14:52:25" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RNF43" "05488" ## Individuals ## Do not remove or alter this header ## ## Count = 80 "{{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}}" "00264106" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00469533" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "" "" "" "white" "Ox7 6.1" "00471418" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Ox7 5.16" "00471419" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Ox7 6.2" "00471420" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Ox7 6.3" "00471421" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_1" "00471422" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_2" "00471423" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_3" "00471424" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_4" "00471425" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_5" "00471426" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_6" "00471427" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_7" "00471428" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_8" "00471429" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_9" "00471430" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_10" "00471431" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_11" "00471432" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_12" "00471433" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_13" "00471434" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_14" "00471435" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_15" "00471436" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_16" "00471437" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_17" "00471438" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:UKB_18" "00471439" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:100kGP_1" "00471440" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "sTab12:100kGP_2" "00471441" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "sTab12:100kGP_3" "00471442" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_2_Case" "00471443" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_3_Case" "00471444" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_4_Case" "00471445" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_1_Control" "00471446" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_2_Control" "00471447" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_3_Control" "00471448" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_4_Control" "00471449" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_5_Control" "00471450" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_6_Control" "00471451" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:100kGP_7_Control" "00471452" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_1_Case" "00471453" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_2_Case" "00471454" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_3_Case" "00471455" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_4_Case" "00471456" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_5_Case" "00471457" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_6_Case" "00471458" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_7_Case" "00471459" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_8_Case" "00471460" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_9_Case" "00471461" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_10_Case" "00471462" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_11_Case" "00471463" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_12_Case" "00471464" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_13_Case" "00471465" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_14_Case" "00471466" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_15_Case" "00471467" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_1_Control" "00471468" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_2_Control" "00471469" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_3_Control" "00471470" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_4_Control" "00471471" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_5_Control" "00471472" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_6_Control" "00471473" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_7_Control" "00471474" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_8_Control" "00471475" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_9_Control" "00471476" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_10_Control" "00471477" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_11_Control" "00471478" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_12_Control" "00471479" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_13_Control" "00471480" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_14_Control" "00471481" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_15_Control" "00471482" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_16_Control" "00471483" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_17_Control" "00471484" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_18_Control" "00471485" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_19_Control" "00471486" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_20_Control" "00471487" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_21_Control" "00471488" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_22_Control" "00471489" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_23_Control" "00471490" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_24_Control" "00471491" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_25_Control" "00471492" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_26_Control" "00471493" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_27_Control" "00471494" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_28_Control" "00471495" "" "" "" "1" "" "04919" "Palles 2025, submitted" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Tab1:UKB_29_Control" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 79 "{{individualid}}" "{{diseaseid}}" "00469533" "05488" "00471418" "05488" "00471419" "05488" "00471420" "05488" "00471421" "00639" "00471422" "05154" "00471423" "05154" "00471424" "05154" "00471425" "05154" "00471426" "05093" "00471427" "00424" "00471428" "05087" "00471429" "00318" "00471430" "01524" "00471431" "01524" "00471432" "01524" "00471433" "01524" "00471434" "00315" "00471435" "05093" "00471436" "00315" "00471437" "00315" "00471438" "00598" "00471439" "00639" "00471440" "00318" "00471441" "00423" "00471442" "00927" "00471443" "00927" "00471444" "00927" "00471445" "00000" "00471446" "00000" "00471447" "00000" "00471448" "00000" "00471449" "00000" "00471450" "00000" "00471451" "00000" "00471452" "05093" "00471453" "00927" "00471454" "05093" "00471455" "05093" "00471456" "00927" "00471457" "00927" "00471458" "05093" "00471459" "05093" "00471460" "05093" "00471461" "05093" "00471462" "05093" "00471463" "05093" "00471464" "05093" "00471465" "05093" "00471466" "00927" "00471467" "00000" "00471468" "00000" "00471469" "00000" "00471470" "00000" "00471471" "00000" "00471472" "00000" "00471473" "00000" "00471474" "00000" "00471475" "00000" "00471476" "00000" "00471477" "00000" "00471478" "00000" "00471479" "00000" "00471480" "00000" "00471481" "00000" "00471482" "00000" "00471483" "00000" "00471484" "00000" "00471485" "00000" "00471486" "00000" "00471487" "00000" "00471488" "00000" "00471489" "00000" "00471490" "00000" "00471491" "00000" "00471492" "00000" "00471493" "00000" "00471494" "00000" "00471495" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00315, 00318, 00423, 00424, 00598, 00639, 00927, 01524, 05087, 05093, 05154, 05488 ## Count = 43 "{{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}}" "0000354686" "05488" "00469533" "04919" "Familial" "" "30 adenomas including 19 SSLs, 2 TSAs, 1 TA, 1 HP" "" "29-52y" "" "" "" "" "" "" "" "" "" "" "0000356261" "05488" "00471418" "04919" "Unknown" "" "19 sessile serrated lesions, 3 traditional serrated adenomas, 2 hyperplastic polyps" "" "" "" "" "" "" "" "" "" "" "cancer, polyposis" "" "0000356262" "05488" "00471419" "04919" "Unknown" "" "colorectal cancer age 46; multiple serrated adenomas" "" "" "" "" "" "" "" "" "" "" "cancer, polyposis" "" "0000356263" "05488" "00471420" "04919" "Unknown" "" "14 colorectal polyps, no morphology available" "" "" "" "" "" "" "" "" "" "" "cancer, polyposis" "" "0000356264" "00639" "00471421" "04919" "Unknown" "" "lung cancer" "" "" "" "" "" "" "" "" "" "" "cancer, lung" "" "0000356265" "05154" "00471422" "04919" "Unknown" "" "skin cancer" "" "" "" "" "" "" "" "" "" "" "cancer, skin" "" "0000356266" "05154" "00471423" "04919" "Unknown" "" "skin cancer" "" "" "" "" "" "" "" "" "" "" "cancer, skin" "" "0000356267" "05154" "00471424" "04919" "Unknown" "" "skin cancer" "" "" "" "" "" "" "" "" "" "" "cancer, skin" "" "0000356268" "05154" "00471425" "04919" "Unknown" "" "skin cancer" "" "" "" "" "" "" "" "" "" "" "cancer, skin" "" "0000356269" "05093" "00471426" "04919" "Unknown" "" "skin cancer and endometrial cancer" "" "" "" "" "" "" "" "" "" "" "cancer, skin; cancer, endometrial" "" "0000356270" "00424" "00471427" "04919" "Unknown" "" "cancers of the Fallopian tube, ovary and peritoneum" "" "" "" "" "" "" "" "" "" "" "cancer, ovarian" "" "0000356271" "05087" "00471428" "04919" "Unknown" "" "soft tissue sarcoma" "" "" "" "" "" "" "" "" "" "" "sarcoma, soft tissue" "" "0000356272" "00318" "00471429" "04919" "Unknown" "" "breast cancer" "" "" "" "" "" "" "" "" "" "" "cancer, breast" "" "0000356273" "01524" "00471430" "04919" "Unknown" "" "prostate cancer" "" "" "" "" "" "" "" "" "" "" "cancer, prostate" "" "0000356274" "01524" "00471431" "04919" "Unknown" "" "prostate cancer" "" "" "" "" "" "" "" "" "" "" "cancer, prostate" "" "0000356275" "01524" "00471432" "04919" "Unknown" "" "prostate cancer" "" "" "" "" "" "" "" "" "" "" "cancer, prostate" "" "0000356276" "01524" "00471433" "04919" "Unknown" "" "prostate cancer" "" "" "" "" "" "" "" "" "" "" "cancer, prostate" "" "0000356277" "00315" "00471434" "04919" "Unknown" "" "cancer of the renal pelvis, ureter and bladder" "" "" "" "" "" "" "" "" "" "" "cancer, bladder" "" "0000356278" "05093" "00471435" "04919" "Unknown" "" "cancer of the ureter" "" "" "" "" "" "" "" "" "" "" "cancer, ureter" "" "0000356279" "00315" "00471436" "04919" "Unknown" "" "bladder cancer" "" "" "" "" "" "" "" "" "" "" "cancer, bladder" "" "0000356280" "00315" "00471437" "04919" "Unknown" "" "bladder cancer" "" "" "" "" "" "" "" "" "" "" "cancer, bladder" "" "0000356281" "00598" "00471438" "04919" "Unknown" "" "cervical cancer" "" "" "" "" "" "" "" "" "" "" "cancer, cervical, somatic" "" "0000356282" "00639" "00471439" "04919" "Unknown" "" "60y-70y lung cancer" "" "" "" "" "" "" "" "" "" "" "cancer, lung" "" "0000356283" "00318" "00471440" "04919" "Unknown" "" "25y-35y breast cancer" "" "" "" "" "" "" "" "" "" "" "cancer, breast" "" "0000356284" "00423" "00471441" "04919" "Unknown" "" "60y-70y endometrial cancer" "" "" "" "" "" "" "" "" "" "" "cancer, endometrial" "" "0000356285" "00927" "00471442" "04919" "Unknown" "" "colorectal cancer" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal, somatic" "" "0000356286" "00927" "00471443" "04919" "Unknown" "" "colorectal cancer (phenocopy)" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal, somatic" "" "0000356287" "00927" "00471444" "04919" "Unknown" "" "colorectal cancer (phenocopy)" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal, somatic" "" "0000356288" "05093" "00471452" "04919" "Unknown" "" "colorectal polyps" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356289" "00927" "00471453" "04919" "Unknown" "" "colorectal cancer, colorectal polyps, anal cancer" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal, somatic" "" "0000356290" "05093" "00471454" "04919" "Unknown" "" "colorectal polyps" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356291" "05093" "00471455" "04919" "Unknown" "" "colorectal polyps" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356292" "00927" "00471456" "04919" "Unknown" "" "colorectal cancer" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal, somatic" "" "0000356293" "00927" "00471457" "04919" "Unknown" "" "colorectal cancer, polyps" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal, somatic" "" "0000356294" "05093" "00471458" "04919" "Unknown" "" "Polyps" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356295" "05093" "00471459" "04919" "Unknown" "" "colorectal cancer, polyps, prostate cancer" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal, somatic; cancer, prostate" "" "0000356296" "05093" "00471460" "04919" "Unknown" "" "colorectal polyps" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356297" "05093" "00471461" "04919" "Unknown" "" "Polyps, cholangiocarcinoma" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356298" "05093" "00471462" "04919" "Unknown" "" "colorectal polyps" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356299" "05093" "00471463" "04919" "Unknown" "" "colorectal polyps" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356300" "05093" "00471464" "04919" "Unknown" "" "colorectal polyps" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356301" "05093" "00471465" "04919" "Unknown" "" "colorectal polyps" "" "" "" "" "" "" "" "" "" "" "colorectal polyps" "" "0000356302" "00927" "00471466" "04919" "Unknown" "" "colorectal cancer" "" "" "" "" "" "" "" "" "" "" "cancer, colorectal, somatic" "" ## Screenings ## Do not remove or alter this header ## ## Count = 80 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000265228" "00264106" "1" "01164" "01164" "2019-09-11 18:04:30" "" "" "SEQ-NG-S" "DNA" "" "" "0000471201" "00469533" "1" "04919" "04919" "2025-11-14 10:08:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000473088" "00471418" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473089" "00471419" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473090" "00471420" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473091" "00471421" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473092" "00471422" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473093" "00471423" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473094" "00471424" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473095" "00471425" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473096" "00471426" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473097" "00471427" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473098" "00471428" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473099" "00471429" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473100" "00471430" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473101" "00471431" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473102" "00471432" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473103" "00471433" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473104" "00471434" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473105" "00471435" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473106" "00471436" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473107" "00471437" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473108" "00471438" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473109" "00471439" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473110" "00471440" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473111" "00471441" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473112" "00471442" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473113" "00471443" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473114" "00471444" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473115" "00471445" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473116" "00471446" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473117" "00471447" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473118" "00471448" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473119" "00471449" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473120" "00471450" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473121" "00471451" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473122" "00471452" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473123" "00471453" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473124" "00471454" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473125" "00471455" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473126" "00471456" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473127" "00471457" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473128" "00471458" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473129" "00471459" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473130" "00471460" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473131" "00471461" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473132" "00471462" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473133" "00471463" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473134" "00471464" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473135" "00471465" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473136" "00471466" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473137" "00471467" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473138" "00471468" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473139" "00471469" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473140" "00471470" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473141" "00471471" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473142" "00471472" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473143" "00471473" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473144" "00471474" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473145" "00471475" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473146" "00471476" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473147" "00471477" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473148" "00471478" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473149" "00471479" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473150" "00471480" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473151" "00471481" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473152" "00471482" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473153" "00471483" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473154" "00471484" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473155" "00471485" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473156" "00471486" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473157" "00471487" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473158" "00471488" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473159" "00471489" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473160" "00471490" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473161" "00471491" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473162" "00471492" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473163" "00471493" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473164" "00471494" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000473165" "00471495" "1" "04919" "04919" "2025-12-23 10:39:09" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 79 "{{screeningid}}" "{{geneid}}" "0000471201" "RNF43" "0000473088" "RNF43" "0000473089" "RNF43" "0000473090" "RNF43" "0000473091" "RNF43" "0000473092" "RNF43" "0000473093" "RNF43" "0000473094" "RNF43" "0000473095" "RNF43" "0000473096" "RNF43" "0000473097" "RNF43" "0000473098" "RNF43" "0000473099" "RNF43" "0000473100" "RNF43" "0000473101" "RNF43" "0000473102" "RNF43" "0000473103" "RNF43" "0000473104" "RNF43" "0000473105" "RNF43" "0000473106" "RNF43" "0000473107" "RNF43" "0000473108" "RNF43" "0000473109" "RNF43" "0000473110" "RNF43" "0000473111" "RNF43" "0000473112" "RNF43" "0000473113" "RNF43" "0000473114" "RNF43" "0000473115" "RNF43" "0000473116" "RNF43" "0000473117" "RNF43" "0000473118" "RNF43" "0000473119" "RNF43" "0000473120" "RNF43" "0000473121" "RNF43" "0000473122" "RNF43" "0000473123" "RNF43" "0000473124" "RNF43" "0000473125" "RNF43" "0000473126" "RNF43" "0000473127" "RNF43" "0000473128" "RNF43" "0000473129" "RNF43" "0000473130" "RNF43" "0000473131" "RNF43" "0000473132" "RNF43" "0000473133" "RNF43" "0000473134" "RNF43" "0000473135" "RNF43" "0000473136" "RNF43" "0000473137" "RNF43" "0000473138" "RNF43" "0000473139" "RNF43" "0000473140" "RNF43" "0000473141" "RNF43" "0000473142" "RNF43" "0000473143" "RNF43" "0000473144" "RNF43" "0000473145" "RNF43" "0000473146" "RNF43" "0000473147" "RNF43" "0000473148" "RNF43" "0000473149" "RNF43" "0000473150" "RNF43" "0000473151" "RNF43" "0000473152" "RNF43" "0000473153" "RNF43" "0000473154" "RNF43" "0000473155" "RNF43" "0000473156" "RNF43" "0000473157" "RNF43" "0000473158" "RNF43" "0000473159" "RNF43" "0000473160" "RNF43" "0000473161" "RNF43" "0000473162" "RNF43" "0000473163" "RNF43" "0000473164" "RNF43" "0000473165" "RNF43" ## 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 = 146 "{{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}}" "0000339001" "0" "10" "17" "56448297" "56448297" "subst" "0.157424" "02327" "RNF43_000001" "g.56448297C>T" "" "" "" "RNF43(NM_017763.6):c.350G>A (p.R117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58370936C>T" "" "benign" "" "0000341740" "0" "70" "17" "56448310" "56448310" "subst" "0" "02327" "RNF43_000002" "g.56448310G>A" "" "" "" "RNF43(NM_017763.6):c.337C>T (p.R113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58370949G>A" "" "likely pathogenic" "" "0000562409" "0" "10" "17" "56432362" "56432362" "subst" "0.163172" "02330" "RNF43_000003" "g.56432362C>G" "" "" "" "RNF43(NM_017763.5):c.2309-15G>C, RNF43(NM_017763.6):c.2309-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58355001C>G" "" "benign" "" "0000562410" "0" "10" "17" "56432362" "56432362" "subst" "0.163172" "01943" "RNF43_000003" "g.56432362C>G" "" "" "" "RNF43(NM_017763.5):c.2309-15G>C, RNF43(NM_017763.6):c.2309-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58355001C>G" "" "benign" "" "0000562411" "0" "10" "17" "56434857" "56434857" "subst" "0.0124007" "02330" "RNF43_000004" "g.56434857C>T" "" "" "" "RNF43(NM_017763.5):c.2280G>A (p.P760=), RNF43(NM_017763.6):c.2280G>A (p.P760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357496C>T" "" "benign" "" "0000562412" "0" "10" "17" "56434857" "56434857" "subst" "0.0124007" "01943" "RNF43_000004" "g.56434857C>T" "" "" "" "RNF43(NM_017763.5):c.2280G>A (p.P760=), RNF43(NM_017763.6):c.2280G>A (p.P760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357496C>T" "" "benign" "" "0000562413" "0" "30" "17" "56435011" "56435011" "subst" "4.06788E-6" "02330" "RNF43_000005" "g.56435011C>A" "" "" "" "RNF43(NM_017763.6):c.2126G>T (p.R709M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357650C>A" "" "likely benign" "" "0000562414" "0" "10" "17" "56435080" "56435080" "subst" "0.0972467" "02330" "RNF43_000006" "g.56435080G>C" "" "" "" "RNF43(NM_017763.6):c.2057C>G (p.P686R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357719G>C" "" "benign" "" "0000562415" "0" "30" "17" "56435253" "56435253" "subst" "0.000187432" "02330" "RNF43_000007" "g.56435253G>A" "" "" "" "RNF43(NM_017763.6):c.1884C>T (p.D628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357892G>A" "" "likely benign" "" "0000562416" "0" "10" "17" "56435257" "56435257" "subst" "0.000293396" "02330" "RNF43_000008" "g.56435257A>G" "" "" "" "RNF43(NM_017763.6):c.1880T>C (p.V627A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357896A>G" "" "benign" "" "0000562417" "0" "30" "17" "56435312" "56435312" "subst" "0.000802991" "02330" "RNF43_000009" "g.56435312G>A" "" "" "" "RNF43(NM_017763.6):c.1825C>T (p.R609W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357951G>A" "" "likely benign" "" "0000562418" "0" "10" "17" "56435885" "56435885" "subst" "0.394435" "02330" "RNF43_000010" "g.56435885G>T" "" "" "" "RNF43(NM_017763.5):c.1252C>A (p.L418M), RNF43(NM_017763.6):c.1252C>A (p.L418M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358524G>T" "" "benign" "" "0000562419" "0" "10" "17" "56435885" "56435885" "subst" "0.394435" "01943" "RNF43_000010" "g.56435885G>T" "" "" "" "RNF43(NM_017763.5):c.1252C>A (p.L418M), RNF43(NM_017763.6):c.1252C>A (p.L418M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358524G>T" "" "benign" "" "0000562420" "0" "10" "17" "56436109" "56436109" "subst" "0.109369" "02330" "RNF43_000011" "g.56436109C>T" "" "" "" "RNF43(NM_017763.5):c.1028G>A (p.R343H), RNF43(NM_017763.6):c.1028G>A (p.R343H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358748C>T" "" "benign" "" "0000562421" "0" "10" "17" "56436109" "56436109" "subst" "0.109369" "01943" "RNF43_000011" "g.56436109C>T" "" "" "" "RNF43(NM_017763.5):c.1028G>A (p.R343H), RNF43(NM_017763.6):c.1028G>A (p.R343H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358748C>T" "" "benign" "" "0000562422" "0" "10" "17" "56436127" "56436127" "subst" "0.00245768" "02330" "RNF43_000012" "g.56436127C>T" "" "" "" "RNF43(NM_017763.5):c.1010G>A (p.R337Q), RNF43(NM_017763.6):c.1010G>A (p.R337Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358766C>T" "" "benign" "" "0000562423" "0" "30" "17" "56438125" "56438125" "subst" "0.000217725" "02330" "RNF43_000013" "g.56438125A>G" "" "" "" "RNF43(NM_017763.6):c.849+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58360764A>G" "" "likely benign" "" "0000562424" "0" "10" "17" "56438301" "56438301" "subst" "0.14411" "02330" "RNF43_000014" "g.56438301G>A" "" "" "" "RNF43(NM_017763.6):c.692C>T (p.P231L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58360940G>A" "" "benign" "" "0000562425" "0" "50" "17" "56438309" "56438309" "subst" "0" "01804" "RNF43_000015" "g.56438309G>A" "" "" "" "RNF43(NM_001305544.1):c.688-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58360948G>A" "" "VUS" "" "0000562426" "0" "10" "17" "56439930" "56439930" "subst" "0.004953" "02330" "RNF43_000016" "g.56439930C>T" "" "" "" "RNF43(NM_001305544.1):c.662G>A (p.(Arg221Gln)), RNF43(NM_017763.6):c.662G>A (p.R221Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58362569C>T" "" "benign" "" "0000562427" "0" "10" "17" "56440642" "56440642" "subst" "0.0100155" "02330" "RNF43_000017" "g.56440642C>T" "" "" "" "RNF43(NM_017763.6):c.576G>A (p.P192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58363281C>T" "" "benign" "" "0000562428" "0" "30" "17" "56440868" "56440868" "subst" "0.000171535" "02330" "RNF43_000018" "g.56440868C>T" "" "" "" "RNF43(NM_017763.6):c.450+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58363507C>T" "" "likely benign" "" "0000562429" "0" "10" "17" "56448297" "56448297" "subst" "0.157424" "02330" "RNF43_000001" "g.56448297C>T" "" "" "" "RNF43(NM_017763.6):c.350G>A (p.R117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58370936C>T" "" "benign" "" "0000562430" "0" "30" "17" "56448328" "56448328" "subst" "0.000539838" "02330" "RNF43_000019" "g.56448328C>T" "" "" "" "RNF43(NM_017763.6):c.319G>A (p.V107I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58370967C>T" "" "likely benign" "" "0000562431" "0" "10" "17" "56492800" "56492800" "subst" "0.411815" "02330" "HSF5_000001" "g.56492800T>C" "" "" "" "RNF43(NM_017763.6):c.139A>G (p.I47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58415439T>C" "" "benign" "" "0000595817" "0" "50" "17" "56439912" "56439912" "subst" "1.66077E-5" "01164" "RNF43_000020" "g.56439912C>T" "" "" "" "" "ACMG grading: PM2" "Germline" "" "rs753641688" "0" "" "" "g.58362551C>T" "" "VUS" "ACMG" "0000616706" "0" "30" "17" "56435311" "56435311" "subst" "0" "02330" "RNF43_000021" "g.56435311C>A" "" "" "" "RNF43(NM_017763.6):c.1826G>T (p.R609L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357950C>A" "" "likely benign" "" "0000616707" "0" "30" "17" "56435655" "56435655" "subst" "0" "02330" "RNF43_000023" "g.56435655A>G" "" "" "" "RNF43(NM_017763.6):c.1482T>C (p.S494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358294A>G" "" "likely benign" "" "0000616708" "0" "10" "17" "56436044" "56436044" "subst" "0.00349399" "02330" "RNF43_000024" "g.56436044C>T" "" "" "" "RNF43(NM_017763.5):c.1093G>A (p.A365T), RNF43(NM_017763.6):c.1093G>A (p.A365T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358683C>T" "" "benign" "" "0000623724" "0" "30" "17" "56435316" "56435316" "subst" "0.000366466" "02330" "RNF43_000022" "g.56435316C>T" "" "" "" "RNF43(NM_017763.5):c.1821G>A (p.S607=), RNF43(NM_017763.6):c.1821G>A (p.S607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357955C>T" "" "likely benign" "" "0000623725" "0" "30" "17" "56436050" "56436050" "subst" "2.94351E-5" "02330" "RNF43_000025" "g.56436050G>A" "" "" "" "RNF43(NM_017763.6):c.1087C>T (p.R363W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358689G>A" "" "likely benign" "" "0000623726" "0" "50" "17" "56436127" "56436127" "subst" "0.00245768" "01943" "RNF43_000012" "g.56436127C>T" "" "" "" "RNF43(NM_017763.5):c.1010G>A (p.R337Q), RNF43(NM_017763.6):c.1010G>A (p.R337Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358766C>T" "" "VUS" "" "0000623727" "0" "10" "17" "56440957" "56440957" "subst" "0.000688243" "02330" "RNF43_000026" "g.56440957C>T" "" "" "" "RNF43(NM_017763.6):c.380G>A (p.R127Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58363596C>T" "" "benign" "" "0000658202" "0" "10" "17" "56434857" "56434857" "subst" "0.0124007" "02329" "RNF43_000004" "g.56434857C>T" "" "" "" "RNF43(NM_017763.5):c.2280G>A (p.P760=), RNF43(NM_017763.6):c.2280G>A (p.P760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357496C>T" "" "benign" "" "0000658203" "0" "10" "17" "56434876" "56434876" "subst" "0.00201832" "02330" "RNF43_000027" "g.56434876C>G" "" "" "" "RNF43(NM_017763.6):c.2261G>C (p.G754A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357515C>G" "" "benign" "" "0000658204" "0" "30" "17" "56435316" "56435316" "subst" "0.000366466" "01943" "RNF43_000022" "g.56435316C>T" "" "" "" "RNF43(NM_017763.5):c.1821G>A (p.S607=), RNF43(NM_017763.6):c.1821G>A (p.S607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357955C>T" "" "likely benign" "" "0000658205" "0" "30" "17" "56435455" "56435455" "subst" "6.20995E-5" "01943" "RNF43_000028" "g.56435455C>T" "" "" "" "RNF43(NM_017763.5):c.1682G>A (p.R561Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58358094C>T" "" "likely benign" "" "0000658206" "0" "10" "17" "56440642" "56440642" "subst" "0.0100155" "02329" "RNF43_000017" "g.56440642C>T" "" "" "" "RNF43(NM_017763.6):c.576G>A (p.P192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58363281C>T" "" "benign" "" "0000680936" "0" "30" "17" "56437542" "56437542" "subst" "2.03039E-5" "01943" "RNF43_000029" "g.56437542C>T" "" "" "" "RNF43(NM_017763.5):c.920G>A (p.R307Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726536" "0" "30" "17" "56434919" "56434919" "subst" "8.12216E-6" "01943" "RNF43_000030" "g.56434919G>A" "" "" "" "RNF43(NM_017763.5):c.2218C>T (p.P740S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726537" "0" "10" "17" "56436127" "56436127" "subst" "0.00245768" "02329" "RNF43_000012" "g.56436127C>T" "" "" "" "RNF43(NM_017763.5):c.1010G>A (p.R337Q), RNF43(NM_017763.6):c.1010G>A (p.R337Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808128" "0" "50" "17" "56435813" "56435813" "subst" "0" "02326" "RNF43_000031" "g.56435813C>T" "" "" "" "RNF43(NM_017763.5):c.1324G>A (p.D442N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808129" "0" "30" "17" "56438241" "56438241" "subst" "0" "01943" "RNF43_000032" "g.56438241C>A" "" "" "" "RNF43(NM_017763.5):c.752G>T (p.S251I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808130" "0" "50" "17" "56439937" "56439937" "subst" "0.000102943" "02330" "RNF43_000033" "g.56439937G>A" "" "" "" "RNF43(NM_017763.6):c.655C>T (p.R219C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855014" "0" "10" "17" "56439930" "56439930" "subst" "0.004953" "02329" "RNF43_000016" "g.56439930C>T" "" "" "" "RNF43(NM_001305544.1):c.662G>A (p.(Arg221Gln)), RNF43(NM_017763.6):c.662G>A (p.R221Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865380" "0" "10" "17" "56434876" "56434876" "subst" "0.00201832" "02329" "RNF43_000027" "g.56434876C>G" "" "" "" "RNF43(NM_017763.6):c.2261G>C (p.G754A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865381" "0" "30" "17" "56435135" "56435135" "subst" "3.66898E-5" "02330" "RNF43_000034" "g.56435135G>A" "" "" "" "RNF43(NM_017763.6):c.2002C>T (p.R668W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926567" "0" "10" "17" "56436044" "56436044" "subst" "0.00349399" "02326" "RNF43_000024" "g.56436044C>T" "" "" "" "RNF43(NM_017763.5):c.1093G>A (p.A365T), RNF43(NM_017763.6):c.1093G>A (p.A365T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950954" "0" "30" "17" "56448328" "56448328" "subst" "0.000539838" "02325" "RNF43_000019" "g.56448328C>T" "" "" "" "RNF43(NM_017763.6):c.319G>A (p.V107I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950955" "0" "30" "17" "56448328" "56448328" "subst" "0.000539838" "02329" "RNF43_000019" "g.56448328C>T" "" "" "" "RNF43(NM_017763.6):c.319G>A (p.V107I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969094" "0" "30" "17" "56437589" "56437589" "subst" "8.12163E-5" "02329" "RNF43_000035" "g.56437589G>T" "" "" "" "RNF43(NM_017763.6):c.873C>A (p.L291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982645" "0" "30" "17" "56439995" "56439995" "subst" "0.0019184" "02329" "RNF43_000036" "g.56439995C>T" "" "" "" "RNF43(NM_017763.6):c.597G>A (p.V199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982646" "0" "30" "17" "56492661" "56492661" "subst" "1.63189E-5" "02329" "HSF5_000002" "g.56492661G>C" "" "" "" "RNF43(NM_017763.6):c.252+26C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015573" "0" "70" "17" "56448310" "56448310" "subst" "0" "02329" "RNF43_000002" "g.56448310G>A" "" "" "" "RNF43(NM_017763.6):c.337C>T (p.R113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026987" "0" "30" "17" "56435316" "56435316" "subst" "0.000366466" "02329" "RNF43_000022" "g.56435316C>T" "" "" "" "RNF43(NM_017763.5):c.1821G>A (p.S607=), RNF43(NM_017763.6):c.1821G>A (p.S607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026988" "0" "30" "17" "56438156" "56438156" "subst" "0.000291442" "02329" "RNF43_000037" "g.56438156G>A" "" "" "" "RNF43(NM_017763.6):c.837C>T (p.F279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026989" "0" "30" "17" "56439977" "56439977" "subst" "2.87012E-5" "02329" "RNF43_000038" "g.56439977C>T" "" "" "" "RNF43(NM_017763.6):c.615G>A (p.V205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042006" "0" "10" "17" "56434679" "56434679" "subst" "0.00108889" "02327" "RNF43_000039" "g.56434679C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042007" "0" "30" "17" "56435316" "56435316" "subst" "0.000366466" "02327" "RNF43_000022" "g.56435316C>T" "" "" "" "RNF43(NM_017763.5):c.1821G>A (p.S607=), RNF43(NM_017763.6):c.1821G>A (p.S607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042008" "0" "30" "17" "56436044" "56436044" "subst" "0.00349399" "02327" "RNF43_000024" "g.56436044C>T" "" "" "" "RNF43(NM_017763.5):c.1093G>A (p.A365T), RNF43(NM_017763.6):c.1093G>A (p.A365T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042009" "0" "10" "17" "56439930" "56439930" "subst" "0.004953" "01804" "RNF43_000016" "g.56439930C>T" "" "" "" "RNF43(NM_001305544.1):c.662G>A (p.(Arg221Gln)), RNF43(NM_017763.6):c.662G>A (p.R221Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042010" "0" "10" "17" "56439930" "56439930" "subst" "0.004953" "02327" "RNF43_000016" "g.56439930C>T" "" "" "" "RNF43(NM_001305544.1):c.662G>A (p.(Arg221Gln)), RNF43(NM_017763.6):c.662G>A (p.R221Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046650" "0" "10" "17" "56434876" "56434876" "subst" "0.00201832" "02327" "RNF43_000027" "g.56434876C>G" "" "" "" "RNF43(NM_017763.6):c.2261G>C (p.G754A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046651" "0" "30" "17" "56435581" "56435581" "subst" "9.37941E-5" "02327" "RNF43_000040" "g.56435581C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046652" "0" "30" "17" "56440639" "56440639" "subst" "1.62756E-5" "02327" "RNF43_000041" "g.56440639G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049096" "0" "70" "17" "56448303" "56448303" "del" "0" "03779" "RNF43_000042" "g.56448303del" "" "" "" "" "" "Unknown" "" "rs1567880599" "0" "" "" "" "" "likely pathogenic" "" "0001056100" "0" "50" "17" "56429483" "56429483" "subst" "0.00203604" "01804" "BZRAP1-AS1_000001" "g.56429483G>T" "" "" "" "SUPT4H1(NM_003168.3):c.14C>A (p.(Thr5Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059327" "0" "90" "17" "56440747" "56440747" "del" "0" "04919" "RNF43_000043" "g.56440747del" "" "" "" "Palles 2025, submitted" "" "Germline" "yes" "rs1164873326" "0" "" "" "g.58363386del" "" "pathogenic (dominant)" "" "0001061862" "0" "50" "17" "56440747" "56440747" "del" "0" "04919" "RNF43_000043" "g.56440747del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58363386del" "" "VUS" "" "0001061863" "0" "50" "17" "56440747" "56440747" "del" "0" "04919" "RNF43_000043" "g.56440747del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58363386del" "" "VUS" "" "0001061864" "0" "50" "17" "56440747" "56440747" "del" "0" "04919" "RNF43_000043" "g.56440747del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58363386del" "" "VUS" "" "0001061865" "0" "50" "17" "56435582" "56435582" "subst" "4.07751E-6" "04919" "RNF43_000052" "g.56435582G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358221G>A" "" "VUS" "" "0001061866" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061867" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061868" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061869" "0" "50" "17" "56435369" "56435369" "subst" "0" "04919" "RNF43_000053" "g.56435369C>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358008C>A" "" "VUS" "" "0001061870" "0" "50" "17" "56435167" "56435167" "dup" "0" "04919" "RNF43_000050" "g.56435167dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357806dup" "" "VUS" "" "0001061871" "0" "50" "17" "56440740" "56440740" "dup" "0" "04919" "RNF43_000070" "g.56440740dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58363379dup" "" "VUS" "" "0001061872" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061873" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061874" "0" "50" "17" "56435588" "56435588" "del" "0" "04919" "RNF43_000059" "g.56435588del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358227del" "" "VUS" "" "0001061875" "0" "50" "17" "56435168" "56435168" "dup" "0" "04919" "RNF43_000051" "g.56435168dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357807dup" "" "VUS" "" "0001061876" "0" "50" "17" "56435729" "56435729" "del" "0" "04919" "RNF43_000060" "g.56435729del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358368del" "" "VUS" "" "0001061877" "0" "50" "17" "56435167" "56435167" "dup" "0" "04919" "RNF43_000050" "g.56435167dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357806dup" "" "VUS" "" "0001061878" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061879" "0" "50" "17" "56436026" "56436026" "subst" "0" "04919" "RNF43_000065" "g.56436026G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358665G>A" "" "VUS" "" "0001061880" "0" "50" "17" "56435102" "56435102" "subst" "0" "04919" "RNF43_000048" "g.56435102G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357741G>A" "" "VUS" "" "0001061881" "0" "50" "17" "56440747" "56440747" "del" "0" "04919" "RNF43_000043" "g.56440747del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58363386del" "" "VUS" "" "0001061882" "0" "50" "17" "56435814" "56435815" "del" "0" "04919" "RNF43_000061" "g.56435814_56435815del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358453_58358454del" "" "VUS" "" "0001061883" "0" "50" "17" "56435167" "56435167" "dup" "0" "04919" "RNF43_000050" "g.56435167dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357806dup" "" "VUS" "" "0001061884" "0" "50" "17" "56432315" "56432315" "subst" "0" "04919" "RNF43_000044" "g.56432315G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58354954G>A" "" "VUS" "" "0001061885" "0" "50" "17" "56434985" "56434986" "del" "4.06246E-6" "04919" "RNF43_000046" "g.56434985_56434986del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357624_58357625del" "" "VUS" "" "0001061886" "0" "70" "17" "56440943" "56440943" "subst" "0" "04919" "RNF43_000071" "g.56440943G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58363582G>A" "" "likely pathogenic" "" "0001061887" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061888" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061889" "0" "50" "17" "56492793" "56492794" "del" "0" "04919" "RNF43_000073" "g.56492793_56492794del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58415432_58415433del" "" "VUS" "" "0001061890" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061891" "0" "50" "17" "56435915" "56435916" "ins" "0" "04919" "RNF43_000063" "NC_000017.10:g.56435915_56435916insCTGGGGC" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "NC_000017.11:g.58358554_58358555insCTGGGGC" "" "VUS" "" "0001061892" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061893" "0" "50" "17" "56435046" "56435046" "del" "0" "04919" "RNF43_000047" "g.56435046del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357685del" "" "VUS" "" "0001061894" "0" "50" "17" "56434985" "56434986" "del" "4.06246E-6" "04919" "RNF43_000046" "g.56434985_56434986del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357624_58357625del" "" "VUS" "" "0001061895" "0" "50" "17" "56434897" "56434897" "subst" "0" "04919" "RNF43_000045" "g.56434897C>T" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357536C>T" "" "VUS" "" "0001061896" "0" "50" "17" "56440747" "56440747" "del" "0" "04919" "RNF43_000043" "g.56440747del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58363386del" "" "VUS" "" "0001061897" "0" "70" "17" "56440010" "56440010" "subst" "0" "04919" "RNF43_000069" "g.56440010C>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58362649C>A" "" "likely pathogenic" "" "0001061898" "0" "70" "17" "56439925" "56439938" "dup" "0" "04919" "RNF43_000068" "g.56439925_56439938dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58362564_58362577dup" "" "likely pathogenic" "" "0001061899" "0" "70" "17" "56437574" "56437574" "dup" "0" "04919" "RNF43_000067" "g.56437574dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58360213dup" "" "likely pathogenic" "" "0001061900" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061901" "0" "50" "17" "56436026" "56436026" "subst" "0" "04919" "RNF43_000065" "g.56436026G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358665G>A" "" "VUS" "" "0001061902" "0" "50" "17" "56436026" "56436026" "subst" "0" "04919" "RNF43_000065" "g.56436026G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358665G>A" "" "VUS" "" "0001061903" "0" "50" "17" "56435930" "56435930" "subst" "1.73479E-5" "04919" "RNF43_000064" "g.56435930G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358569G>A" "" "VUS" "" "0001061904" "0" "50" "17" "56435890" "56435890" "del" "0" "04919" "RNF43_000062" "g.56435890del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358529del" "" "VUS" "" "0001061905" "0" "50" "17" "56435729" "56435729" "del" "0" "04919" "RNF43_000060" "g.56435729del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358368del" "" "VUS" "" "0001061906" "0" "50" "17" "56435582" "56435582" "subst" "4.07751E-6" "04919" "RNF43_000052" "g.56435582G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358221G>A" "" "VUS" "" "0001061907" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061908" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061909" "0" "50" "17" "56435412" "56435412" "del" "0" "04919" "RNF43_000055" "g.56435412del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358051del" "" "VUS" "" "0001061910" "0" "50" "17" "56435167" "56435167" "dup" "0" "04919" "RNF43_000050" "g.56435167dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357806dup" "" "VUS" "" "0001061911" "0" "50" "17" "56492817" "56492817" "subst" "0" "04919" "RNF43_000074" "g.56492817G>C" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58415456G>C" "" "VUS" "" "0001061912" "0" "50" "17" "56448303" "56448303" "dup" "0" "04919" "RNF43_000072" "g.56448303dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58370942dup" "" "VUS" "" "0001061913" "0" "50" "17" "56440740" "56440740" "dup" "0" "04919" "RNF43_000070" "g.56440740dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58363379dup" "" "VUS" "" "0001061914" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061915" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061916" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061917" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061918" "0" "50" "17" "56436149" "56436149" "subst" "0" "04919" "RNF43_000066" "g.56436149G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358788G>A" "" "VUS" "" "0001061919" "0" "50" "17" "56436026" "56436026" "subst" "0" "04919" "RNF43_000065" "g.56436026G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358665G>A" "" "VUS" "" "0001061920" "0" "50" "17" "56436026" "56436026" "subst" "0" "04919" "RNF43_000065" "g.56436026G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358665G>A" "" "VUS" "" "0001061921" "0" "50" "17" "56436026" "56436026" "subst" "0" "04919" "RNF43_000065" "g.56436026G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358665G>A" "" "VUS" "" "0001061922" "0" "50" "17" "56436026" "56436026" "subst" "0" "04919" "RNF43_000065" "g.56436026G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358665G>A" "" "VUS" "" "0001061923" "0" "50" "17" "56435729" "56435729" "del" "0" "04919" "RNF43_000060" "g.56435729del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358368del" "" "VUS" "" "0001061924" "0" "50" "17" "56435582" "56435582" "subst" "4.07751E-6" "04919" "RNF43_000052" "g.56435582G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358221G>A" "" "VUS" "" "0001061925" "0" "50" "17" "56435567" "56435567" "del" "0" "04919" "RNF43_000058" "g.56435567del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358206del" "" "VUS" "" "0001061926" "0" "50" "17" "56435564" "56435564" "del" "0" "04919" "RNF43_000057" "g.56435564del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358203del" "" "VUS" "" "0001061927" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061928" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061929" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061930" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061931" "0" "50" "17" "56435520" "56435520" "dup" "0" "04919" "RNF43_000056" "g.56435520dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358159dup" "" "VUS" "" "0001061932" "0" "50" "17" "56435381" "56435381" "subst" "0" "04919" "RNF43_000054" "g.56435381G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58358020G>A" "" "VUS" "" "0001061933" "0" "50" "17" "56435189" "56435189" "subst" "1.62631E-5" "04919" "RNF43_000052" "g.56435189G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357828G>A" "" "VUS" "" "0001061934" "0" "50" "17" "56435167" "56435167" "dup" "0" "04919" "RNF43_000050" "g.56435167dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357806dup" "" "VUS" "" "0001061935" "0" "50" "17" "56435167" "56435167" "dup" "0" "04919" "RNF43_000050" "g.56435167dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357806dup" "" "VUS" "" "0001061936" "0" "50" "17" "56435167" "56435167" "dup" "0" "04919" "RNF43_000050" "g.56435167dup" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357806dup" "" "VUS" "" "0001061937" "0" "50" "17" "56435112" "56435119" "del" "0" "04919" "RNF43_000049" "g.56435112_56435119del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357751_58357758del" "" "VUS" "" "0001061938" "0" "50" "17" "56435102" "56435102" "subst" "0" "04919" "RNF43_000048" "g.56435102G>A" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357741G>A" "" "VUS" "" "0001061939" "0" "50" "17" "56434985" "56434986" "del" "4.06246E-6" "04919" "RNF43_000046" "g.56434985_56434986del" "" "Palles 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.58357624_58357625del" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RNF43 ## Count = 146 "{{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}}" "0000339001" "00017884" "10" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117His)" "" "0000341740" "00017884" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0000562409" "00017884" "10" "2309" "-15" "2309" "-15" "c.2309-15G>C" "r.(=)" "p.(=)" "" "0000562410" "00017884" "10" "2309" "-15" "2309" "-15" "c.2309-15G>C" "r.(=)" "p.(=)" "" "0000562411" "00017884" "10" "2280" "0" "2280" "0" "c.2280G>A" "r.(?)" "p.(Pro760=)" "" "0000562412" "00017884" "10" "2280" "0" "2280" "0" "c.2280G>A" "r.(?)" "p.(Pro760=)" "" "0000562413" "00017884" "30" "2126" "0" "2126" "0" "c.2126G>T" "r.(?)" "p.(Arg709Met)" "" "0000562414" "00017884" "10" "2057" "0" "2057" "0" "c.2057C>G" "r.(?)" "p.(Pro686Arg)" "" "0000562415" "00017884" "30" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Asp628=)" "" "0000562416" "00017884" "10" "1880" "0" "1880" "0" "c.1880T>C" "r.(?)" "p.(Val627Ala)" "" "0000562417" "00017884" "30" "1825" "0" "1825" "0" "c.1825C>T" "r.(?)" "p.(Arg609Trp)" "" "0000562418" "00017884" "10" "1252" "0" "1252" "0" "c.1252C>A" "r.(?)" "p.(Leu418Met)" "" "0000562419" "00017884" "10" "1252" "0" "1252" "0" "c.1252C>A" "r.(?)" "p.(Leu418Met)" "" "0000562420" "00017884" "10" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343His)" "" "0000562421" "00017884" "10" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343His)" "" "0000562422" "00017884" "10" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "0000562423" "00017884" "30" "849" "19" "849" "19" "c.849+19T>C" "r.(=)" "p.(=)" "" "0000562424" "00017884" "10" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "" "0000562425" "00017884" "50" "688" "-4" "688" "-4" "c.688-4C>T" "r.spl?" "p.?" "" "0000562426" "00017884" "10" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221Gln)" "" "0000562427" "00017884" "10" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Pro192=)" "" "0000562428" "00017884" "30" "450" "19" "450" "19" "c.450+19G>A" "r.(=)" "p.(=)" "" "0000562429" "00017884" "10" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117His)" "" "0000562430" "00017884" "30" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Ile)" "" "0000562431" "00017884" "10" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ile47Val)" "" "0000595817" "00017884" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Ser227Asn)" "" "0000616706" "00017884" "30" "1826" "0" "1826" "0" "c.1826G>T" "r.(?)" "p.(Arg609Leu)" "" "0000616707" "00017884" "30" "1482" "0" "1482" "0" "c.1482T>C" "r.(?)" "p.(Ser494=)" "" "0000616708" "00017884" "10" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Ala365Thr)" "" "0000623724" "00017884" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Ser607=)" "" "0000623725" "00017884" "30" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "" "0000623726" "00017884" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "0000623727" "00017884" "10" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "" "0000658202" "00017884" "10" "2280" "0" "2280" "0" "c.2280G>A" "r.(?)" "p.(Pro760=)" "" "0000658203" "00017884" "10" "2261" "0" "2261" "0" "c.2261G>C" "r.(?)" "p.(Gly754Ala)" "" "0000658204" "00017884" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Ser607=)" "" "0000658205" "00017884" "30" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Arg561Gln)" "" "0000658206" "00017884" "10" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Pro192=)" "" "0000680936" "00017884" "30" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "" "0000726536" "00017884" "30" "2218" "0" "2218" "0" "c.2218C>T" "r.(?)" "p.(Pro740Ser)" "" "0000726537" "00017884" "10" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "0000808128" "00017884" "50" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Asp442Asn)" "" "0000808129" "00017884" "30" "752" "0" "752" "0" "c.752G>T" "r.(?)" "p.(Ser251Ile)" "" "0000808130" "00017884" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Cys)" "" "0000855014" "00017884" "10" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221Gln)" "" "0000865380" "00017884" "10" "2261" "0" "2261" "0" "c.2261G>C" "r.(?)" "p.(Gly754Ala)" "" "0000865381" "00017884" "30" "2002" "0" "2002" "0" "c.2002C>T" "r.(?)" "p.(Arg668Trp)" "" "0000926567" "00017884" "10" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Ala365Thr)" "" "0000950954" "00017884" "30" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Ile)" "" "0000950955" "00017884" "30" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Ile)" "" "0000969094" "00017884" "30" "873" "0" "873" "0" "c.873C>A" "r.(?)" "p.(=)" "" "0000982645" "00017884" "30" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(=)" "" "0000982646" "00017884" "30" "252" "26" "252" "26" "c.252+26C>G" "r.(=)" "p.(=)" "" "0001015573" "00017884" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001026987" "00017884" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Ser607=)" "" "0001026988" "00017884" "30" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(=)" "" "0001026989" "00017884" "30" "615" "0" "615" "0" "c.615G>A" "r.(?)" "p.(=)" "" "0001042006" "00017884" "10" "2308" "150" "2308" "150" "c.2308+150G>A" "r.(=)" "p.(=)" "" "0001042007" "00017884" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Ser607=)" "" "0001042008" "00017884" "30" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Ala365Thr)" "" "0001042009" "00017884" "10" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221Gln)" "" "0001042010" "00017884" "10" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221Gln)" "" "0001046650" "00017884" "10" "2261" "0" "2261" "0" "c.2261G>C" "r.(?)" "p.(Gly754Ala)" "" "0001046651" "00017884" "30" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "" "0001046652" "00017884" "30" "579" "0" "579" "0" "c.579C>T" "r.(?)" "p.(=)" "" "0001049096" "00017884" "70" "349" "0" "349" "0" "c.349del" "r.(?)" "p.(Arg117AlafsTer41)" "" "0001056100" "00017884" "50" "5173" "0" "5173" "0" "c.*2821C>A" "r.(=)" "p.(=)" "" "0001059327" "00017884" "90" "471" "0" "471" "0" "c.471del" "r.(?)" "p.(Thr158ProfsTer6)" "" "0001061862" "00017884" "50" "471" "0" "471" "0" "c.471del" "r.(?)" "p.(Thr158ProfsTer6)" "" "0001061863" "00017884" "50" "471" "0" "471" "0" "c.471del" "r.(?)" "p.(Thr158ProfsTer6)" "" "0001061864" "00017884" "50" "471" "0" "471" "0" "c.471del" "r.(?)" "p.(Thr158ProfsTer6)" "" "0001061865" "00017884" "50" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Ter)" "" "0001061866" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061867" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061868" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061869" "00017884" "50" "1768" "0" "1768" "0" "c.1768G>T" "r.(?)" "p.(Glu590Ter)" "" "0001061870" "00017884" "50" "1976" "0" "1976" "0" "c.1976dup" "r.(?)" "p.(Pro660SerfsTer87)" "" "0001061871" "00017884" "50" "479" "0" "479" "0" "c.479dup" "r.(?)" "p.(Val161SerfsTer7)" "" "0001061872" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061873" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061874" "00017884" "50" "1552" "0" "1552" "0" "c.1552del" "r.(?)" "p.(Gln518SerfsTer9)" "" "0001061875" "00017884" "50" "1969" "0" "1969" "0" "c.1969dup" "r.(?)" "p.(Arg657ProfsTer90)" "" "0001061876" "00017884" "50" "1410" "0" "1410" "0" "c.1410del" "r.(?)" "p.(Cys471ValfsTer31)" "" "0001061877" "00017884" "50" "1976" "0" "1976" "0" "c.1976dup" "r.(?)" "p.(Pro660SerfsTer87)" "" "0001061878" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061879" "00017884" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0001061880" "00017884" "50" "2035" "0" "2035" "0" "c.2035C>T" "r.(?)" "p.(Gln679Ter)" "" "0001061881" "00017884" "50" "471" "0" "471" "0" "c.471del" "r.(?)" "p.(Thr158ProfsTer6)" "" "0001061882" "00017884" "50" "1322" "0" "1323" "0" "c.1322_1323del" "r.(?)" "p.(Pro441ArgfsTer24)" "" "0001061883" "00017884" "50" "1976" "0" "1976" "0" "c.1976dup" "r.(?)" "p.(Pro660SerfsTer87)" "" "0001061884" "00017884" "50" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Gln781Ter)" "" "0001061885" "00017884" "50" "2151" "0" "2152" "0" "c.2151_2152del" "r.(?)" "p.(Cys718LeufsTer28)" "" "0001061886" "00017884" "70" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Ter)" "" "0001061887" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061888" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061889" "00017884" "50" "147" "0" "148" "0" "c.147_148del" "r.(?)" "p.(Arg49SerfsTer25)" "" "0001061890" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061891" "00017884" "50" "1225" "0" "1226" "0" "c.1225_1226insCAGGCCC" "r.(?)" "p.(Gln409ProfsTer36)" "" "0001061892" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061893" "00017884" "50" "2094" "0" "2094" "0" "c.2094del" "r.(?)" "p.(Leu699Ter)" "" "0001061894" "00017884" "50" "2151" "0" "2152" "0" "c.2151_2152del" "r.(?)" "p.(Cys718LeufsTer28)" "" "0001061895" "00017884" "50" "2240" "0" "2240" "0" "c.2240G>A" "r.(?)" "p.(Trp747Ter)" "" "0001061896" "00017884" "50" "471" "0" "471" "0" "c.471del" "r.(?)" "p.(Thr158ProfsTer6)" "" "0001061897" "00017884" "70" "583" "-1" "583" "-1" "c.583-1G>T" "r.(?)" "p.?" "" "0001061898" "00017884" "70" "656" "0" "669" "0" "c.656_669dup" "r.(?)" "p.(Pro224AlafsTer200)" "" "0001061899" "00017884" "70" "888" "0" "888" "0" "c.888dup" "r.(?)" "p.(Asn297Ter)" "" "0001061900" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061901" "00017884" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0001061902" "00017884" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0001061903" "00017884" "50" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403Ter)" "" "0001061904" "00017884" "50" "1250" "0" "1250" "0" "c.1250del" "r.(?)" "p.(Gly417AspfsTer2)" "" "0001061905" "00017884" "50" "1410" "0" "1410" "0" "c.1410del" "r.(?)" "p.(Cys471ValfsTer31)" "" "0001061906" "00017884" "50" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Arg519Ter)" "" "0001061907" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061908" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061909" "00017884" "50" "1729" "0" "1729" "0" "c.1729del" "r.(?)" "p.(Gln577SerfsTer123)" "" "0001061910" "00017884" "50" "1976" "0" "1976" "0" "c.1976dup" "r.(?)" "p.(Pro660SerfsTer87)" "" "0001061911" "00017884" "50" "122" "0" "122" "0" "c.122C>G" "r.(?)" "p.(Ser41Ter)" "" "0001061912" "00017884" "50" "349" "0" "349" "0" "c.349dup" "r.(?)" "p.(Arg117ProfsTer8)" "" "0001061913" "00017884" "50" "479" "0" "479" "0" "c.479dup" "r.(?)" "p.(Val161SerfsTer7)" "" "0001061914" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061915" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061916" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061917" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061918" "00017884" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0001061919" "00017884" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0001061920" "00017884" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0001061921" "00017884" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0001061922" "00017884" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Ter)" "" "0001061923" "00017884" "50" "1410" "0" "1410" "0" "c.1410del" "r.(?)" "p.(Cys471ValfsTer31)" "" "0001061924" "00017884" "50" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Arg519Ter)" "" "0001061925" "00017884" "50" "1571" "0" "1571" "0" "c.1571del" "r.(?)" "p.(Pro524LeufsTer3)" "" "0001061926" "00017884" "50" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Ser525ValfsTer2)" "" "0001061927" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061928" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061929" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061930" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061931" "00017884" "50" "1617" "0" "1617" "0" "c.1617dup" "r.(?)" "p.(Gly540ArgfsTer56)" "" "0001061932" "00017884" "50" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Gln586Ter)" "" "0001061933" "00017884" "50" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Ter)" "" "0001061934" "00017884" "50" "1976" "0" "1976" "0" "c.1976dup" "r.(?)" "p.(Pro660SerfsTer87)" "" "0001061935" "00017884" "50" "1976" "0" "1976" "0" "c.1976dup" "r.(?)" "p.(Pro660SerfsTer87)" "" "0001061936" "00017884" "50" "1976" "0" "1976" "0" "c.1976dup" "r.(?)" "p.(Pro660SerfsTer87)" "" "0001061937" "00017884" "50" "2019" "0" "2026" "0" "c.2019_2026del" "r.(?)" "p.(Val674SerfsTer70)" "" "0001061938" "00017884" "50" "2035" "0" "2035" "0" "c.2035C>T" "r.(?)" "p.(Gln679Ter)" "" "0001061939" "00017884" "50" "2151" "0" "2152" "0" "c.2151_2152del" "r.(?)" "p.(Cys718LeufsTer28)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 80 "{{screeningid}}" "{{variantid}}" "0000265228" "0000595817" "0000471201" "0001059327" "0000473088" "0001061862" "0000473089" "0001061863" "0000473090" "0001061864" "0000473091" "0001061865" "0000473092" "0001061866" "0000473093" "0001061867" "0000473094" "0001061868" "0000473095" "0001061869" "0000473096" "0001061870" "0000473097" "0001061871" "0000473098" "0001061872" "0000473099" "0001061873" "0000473100" "0001061874" "0000473101" "0001061875" "0000473102" "0001061876" "0000473103" "0001061877" "0000473104" "0001061878" "0000473105" "0001061879" "0000473106" "0001061880" "0000473107" "0001061881" "0000473108" "0001061882" "0000473109" "0001061883" "0000473110" "0001061884" "0000473111" "0001061885" "0000473112" "0001061886" "0000473113" "0001061887" "0000473114" "0001061888" "0000473115" "0001061889" "0000473116" "0001061890" "0000473117" "0001061891" "0000473118" "0001061892" "0000473119" "0001061893" "0000473120" "0001061894" "0000473121" "0001061895" "0000473122" "0001061896" "0000473123" "0001061897" "0000473124" "0001061898" "0000473125" "0001061899" "0000473126" "0001061900" "0000473127" "0001061901" "0000473128" "0001061902" "0000473129" "0001061903" "0000473130" "0001061904" "0000473131" "0001061905" "0000473132" "0001061906" "0000473133" "0001061907" "0000473134" "0001061908" "0000473135" "0001061909" "0000473136" "0001061910" "0000473137" "0001061911" "0000473138" "0001061912" "0000473139" "0001061913" "0000473140" "0001061914" "0000473141" "0001061915" "0000473142" "0001061916" "0000473143" "0001061917" "0000473144" "0001061918" "0000473145" "0001061919" "0000473146" "0001061920" "0000473147" "0001061921" "0000473148" "0001061922" "0000473149" "0001061923" "0000473150" "0001061924" "0000473151" "0001061925" "0000473152" "0001061926" "0000473153" "0001061927" "0000473154" "0001061928" "0000473155" "0001061929" "0000473156" "0001061930" "0000473157" "0001061931" "0000473158" "0001061932" "0000473159" "0001061933" "0000473160" "0001061934" "0000473161" "0001061935" "0000473162" "0001061936" "0000473163" "0001061937" "0000473164" "0001061938" "0000473165" "0001061939"