### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MSH3) # 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}}" "MSH3" "mutS homolog 3 (E. coli)" "5" "q11-q12" "no" "NG_016607.1" "UD_134408345533" "" "https://www.LOVD.nl/MSH3" "" "1" "7326" "4437" "600887" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MSH3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-09 12:23:30" "00000" "2026-01-20 18:57:21" ## 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}}" "00013951" "MSH3" "mutS homolog 3 (E. coli)" "001" "NM_002439.4" "" "NP_002430.3" "" "" "" "-80" "4367" "3414" "79950467" "80172634" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00102" "cancer, predisposition" "cancer, predisposition" "" "" "" "" "" "00006" "2013-01-03 10:21:59" "00006" "2019-02-14 14:52:20" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00314" "polyposis" "polyposis" "" "" "" "" "" "00006" "2014-01-27 14:59:09" "" "" "00423" "-" "cancer, endometrial" "AD;SMu" "608089" "" "" "" "00006" "2014-06-18 09:01:15" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04280" "FAP" "adenomatous polyposis, familial (FAP)" "" "" "" "" "" "00006" "2015-06-06 23:26:41" "" "" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05464" "HNPCC (Lynch)" "cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)" "" "" "" "" "" "00006" "2018-08-02 08:56:34" "00006" "2025-07-24 09:00:47" "06660" "FAP4" "Familial adenomatous polyposis 4" "AR" "617100" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MSH3" "00423" "MSH3" "06660" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00074677" "" "" "" "1" "" "00100" "" "" "F" "" "Germany" ">50y" "0" "" "" "" "" "00074678" "" "" "" "1" "" "00100" "" "" "F" "" "Germany" ">61y" "0" "" "" "" "" "00103998" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-107A" "00104011" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-511A" "00183538" "" "" "" "1" "" "00642" "" "" "" "" "Germany" "" "0" "" "" "" "" "00183539" "" "" "" "1" "" "00642" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00239149" "" "" "" "1" "" "03308" "" "" "?" "?" "Spain" "53y" "0" "" "" "" "" "00239150" "" "" "" "1" "" "03308" "" "" "M" "" "Spain" "56y" "0" "" "" "" "" "00239151" "" "" "" "1" "" "03308" "" "" "M" "no" "Spain" "59y" "0" "" "" "European Non-Finish" "" "00265419" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00266351" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295750" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00326127" "" "" "" "1" "" "03514" "" "" "M" "no" "India" "?" "" "" "" "" "MSI-RKM-063" "00457367" "" "" "" "1" "" "04749" "Yuen (unpublished)" "" "F" "" "Singapore" "" "0" "" "" "India" "MINAS_13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00074677" "00102" "00074678" "00102" "00103998" "03381" "00104011" "03381" "00183538" "00091" "00183539" "05464" "00239149" "00314" "00239150" "04280" "00239151" "04280" "00295750" "00198" "00326127" "05464" "00457367" "04296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00102, 00198, 00314, 00423, 03381, 04280, 04296, 05464, 06660 ## Count = 13 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000058487" "00102" "00074677" "00100" "Unknown" "" "colorectal and duodenal adenomatous polyposis, astrozytoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061062" "00102" "00074678" "00100" "Unknown" "" "colorectal and duodenal adenomatous polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081932" "03381" "00103998" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081945" "03381" "00104011" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144242" "00091" "00183538" "00642" "Unknown" "" "54 y jejunum C, tub. adenomas" "54y" "" "" "MLH1+;MSH2-;MSH6-;PMS2+" "" "" "" "" "" "" "" "" "" "" "" "0000144243" "05464" "00183539" "00642" "Familial, autosomal dominant" "" "MSI-H; 47y colon C; mother 50y endometrial C, 60y skin C, 70y colon C; maternal cousin 43y cervix C; maternal half-brother 39y seminome; maternal niece 17y lymphoma" "47y" "" "" "MLH1+;MSH2-;MSH6-;PMS2+" "" "" "" "" "" "" "" "" "" "" "" "0000179364" "04280" "00239151" "03308" "Unknown" "" "HP:0005227" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000179374" "00314" "00239149" "03308" "Unknown" "" "HP:0004394\r\nHP:0005227" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000179375" "04280" "00239150" "03308" "Unknown" "" "HP:0005227\r\nHP:0004394" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000204123" "00198" "00266351" "01164" "Unknown" "" "Colon cancer (HP:0003003)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223268" "00198" "00295750" "01164" "Unknown" "" "Adenomatous colonic polyposis (HP:0005227)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000244610" "05464" "00326127" "03514" "Familial, autosomal dominant" "59y" "HP:0040276" "59y" "59y" "HP:0040276" "" "Microsatellite unstable" "" "" "" "" "" "" "" "Lynch syndrome (HNPCC)" "Moderately differentiated adenocarcinoma of hepatic flexure" "Tumor was MSI-high and BRAF V600E negative." "0000345829" "04296" "00457367" "04749" "Unknown" "" "Breast cancer 39y L IDC triple negative;" "" "" "" "" "" "" "" "" "" "" "" "" "" "MINAS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000074845" "00074677" "1" "00100" "00100" "2016-07-14 14:47:08" "00006" "2016-07-25 21:19:01" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000074846" "00074678" "1" "00100" "00100" "2016-07-14 15:11:38" "00006" "2016-10-14 17:42:32" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000104469" "00103998" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104482" "00104011" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000184506" "00183538" "1" "00642" "00642" "2016-10-11 11:00:45" "" "" "SEQ" "DNA" "" "" "0000184507" "00183539" "1" "00642" "00642" "2016-10-11 11:14:18" "" "" "SEQ" "DNA" "" "" "0000240252" "00239149" "1" "03308" "03308" "2019-06-03 12:03:03" "" "" "SEQ" "DNA" "" "" "0000240254" "00239150" "1" "03308" "03308" "2019-06-03 12:07:16" "" "" "SEQ" "DNA" "blood" "" "0000240255" "00239151" "1" "03308" "03308" "2019-06-03 12:12:15" "" "" "SEQ" "DNA" "" "" "0000266545" "00265419" "1" "01164" "01164" "2019-09-25 09:37:03" "" "" "SEQ-NG-S" "DNA" "" "" "0000267475" "00266351" "1" "01164" "01164" "2019-10-24 13:19:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000296923" "00295750" "1" "01164" "01164" "2020-03-26 12:30:08" "" "" "SEQ-NG-S" "DNA" "" "" "0000327339" "00326127" "1" "03514" "03514" "2021-01-09 07:49:55" "" "" "SEQ-NG-I" "DNA" "Whole blood" "" "0000458987" "00457367" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000184506" "MSH2" "0000184506" "MSH3" "0000184506" "MSH6" "0000184507" "MSH2" "0000184507" "MSH3" "0000184507" "MSH6" "0000240252" "MSH3" "0000240254" "MSH3" "0000240255" "MSH3" ## 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 = 213 "{{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}}" "0000119943" "1" "90" "5" "80074538" "80074538" "subst" "0" "00100" "MSH3_000006" "g.80074538G>A" "" "" "" "" "confirmed by Sanger-sequencing on DNA and cDNA (RNA) level" "Germline" "yes" "" "0" "" "" "g.80778719G>A" "" "pathogenic" "" "0000119944" "2" "90" "5" "80109507" "80109507" "del" "0" "00100" "MSH3_000007" "g.80109507del" "" "" "" "2760delC" "confirmed by Sanger-sequencing on DNA and cDNA (RNA) level" "Germline" "" "" "0" "" "" "g.80813688del" "" "pathogenic" "" "0000119945" "1" "90" "5" "79970922" "79970922" "del" "0" "00100" "MSH3_000003" "g.79970922del" "" "" "" "" "confirmed by Sanger-sequencing on DNA-level" "Germline" "yes" "" "0" "" "" "g.80675103del" "" "pathogenic" "" "0000119946" "2" "90" "5" "80160630" "80160630" "subst" "0" "00100" "MSH3_000004" "g.80160630A>C" "" "" "" "" "confirmed by Sanger-sequencing on DNA and cDNA (RNA) level" "Germline" "yes" "" "0" "" "" "g.80864811A>C" "" "pathogenic" "" "0000169278" "0" "70" "5" "79950741" "79950749" "del" "0" "00587" "MSH3_000008" "g.79950741_79950749del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_002439.4(MSH3):c.195_203del p.(Pro67_Pro69del)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.80654922_80654930del" "" "likely pathogenic" "" "0000169337" "0" "70" "5" "80074538" "80074538" "subst" "0" "00587" "MSH3_000006" "g.80074538G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_002439.4(MSH3):c.2319-1G>A r.spl p.?" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.80778719G>A" "" "likely pathogenic" "" "0000274990" "0" "30" "5" "79933750" "79933750" "subst" "0.000728525" "01943" "DHFR_000002" "g.79933750T>G" "" "" "" "DHFR(NM_000791.3):c.321A>C (p.A107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80637931T>G" "" "likely benign" "" "0000280002" "0" "10" "5" "79950727" "79950735" "dup" "0" "02330" "MSH3_000005" "g.79950727_79950735dup" "" "" "" "MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.A61_P63dup), MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.Ala61_Pro63dup, p.A61_P63dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80654908_80654916dup" "" "benign" "" "0000282609" "0" "10" "5" "79950727" "79950735" "dup" "0" "02325" "MSH3_000005" "g.79950727_79950735dup" "" "" "" "MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.A61_P63dup), MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.Ala61_Pro63dup, p.A61_P63dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80654908_80654916dup" "" "benign" "" "0000292028" "0" "30" "5" "80024719" "80024719" "subst" "7.31505E-5" "01943" "MSH3_000006" "g.80024719C>T" "" "" "" "MSH3(NM_002439.4):c.1503C>T (p.C501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80728900C>T" "" "likely benign" "" "0000292030" "0" "10" "5" "79950741" "79950749" "del" "0" "01943" "MSH3_000011" "g.79950741_79950749del" "" "" "" "DHFR(NM_000791.4):c.-428_-420delGGGGCGCTG, MSH3(NM_002439.4):c.195_203delGCCCCCAGC (p.P67_P69del), MSH3(NM_002439.5):c.195_203delGCCCCCAGC (p.P67_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80654922_80654930del" "" "benign" "" "0000330445" "0" "50" "5" "79950692" "79950692" "subst" "0.000519704" "01804" "MSH3_000013" "g.79950692C>G" "" "" "" "MSH3(NM_002439.4):c.146C>G (p.(Pro49Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80654873C>G" "" "VUS" "" "0000330446" "0" "30" "5" "79950732" "79950733" "ins" "0" "01804" "MSH3_000009" "g.79950732_79950733insGCCGCAGCGCCCGCAGCG" "" "" "" "DHFR(NM_000791.3):c.-417_-416insGCGCTGCGGCCGCTGCGG (p.(=)), MSH3(NM_002439.4):c.186_187insGCCGCAGCGCCCGCAGCG (p.A62_P63insAAAPAA), MSH3(NM_002439....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80654913_80654914insGCCGCAGCGCCCGCAGCG" "" "likely benign" "" "0000330447" "0" "50" "5" "79950761" "79950761" "subst" "0" "01804" "MSH3_000010" "g.79950761C>T" "" "" "" "MSH3(NM_002439.4):c.215C>T (p.(Pro72Leu)), MSH3(NM_002439.5):c.215C>T (p.P72L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80654942C>T" "" "VUS" "" "0000345873" "0" "70" "5" "79950248" "79950248" "subst" "0" "02327" "DHFR_000009" "g.79950248C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80654429C>T" "" "likely pathogenic" "" "0000408621" "0" "50" "5" "80109479" "80109479" "subst" "0.00235548" "00642" "MSH3_000001" "g.80109479T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.80813660T>G" "" "VUS" "" "0000408622" "20" "70" "5" "79970809" "79970809" "del" "0" "00642" "MSH3_000002" "g.79970809del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.80674990del" "" "likely pathogenic" "" "0000484278" "0" "50" "5" "80021325" "80021325" "subst" "0.000195051" "03308" "MSH3_000014" "g.80021325A>G" "" "" "" "" "" "Germline" "?" "rs35009542" "0" "" "" "g.80725506A>G" "" "VUS" "" "0000484280" "0" "50" "5" "80109479" "80109479" "subst" "0.00235548" "03308" "MSH3_000001" "g.80109479T>G" "" "" "" "" "" "Germline" "?" "rs41545019" "0" "" "" "g.80813660T>G" "" "VUS" "" "0000484281" "0" "50" "5" "80109479" "80109479" "subst" "0.00235548" "03308" "MSH3_000001" "g.80109479T>G" "" "" "" "" "" "Germline" "?" "rs41545019" "0" "" "" "g.80813660T>G" "" "VUS" "" "0000526130" "0" "30" "5" "79933726" "79933726" "subst" "0.000105831" "01943" "DHFR_000010" "g.79933726T>A" "" "" "" "DHFR(NM_000791.3):c.345A>T (p.I115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80637907T>A" "" "likely benign" "" "0000526131" "0" "50" "5" "79933732" "79933732" "del" "0" "02325" "DHFR_000011" "g.79933732del" "" "" "" "DHFR(NM_000791.4):c.339delC (p.W114Gfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80637913del" "" "VUS" "" "0000526133" "0" "30" "5" "79945273" "79945273" "subst" "0" "01943" "DHFR_000013" "g.79945273G>A" "" "" "" "DHFR(NM_000791.3):c.177C>T (p.F59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80649454G>A" "" "likely benign" "" "0000526134" "0" "30" "5" "79950227" "79950227" "subst" "0" "01804" "DHFR_000015" "g.79950227G>C" "" "" "" "DHFR(NM_000791.3):c.82C>G (p.(Leu28Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654408G>C" "" "likely benign" "" "0000526135" "0" "10" "5" "79950567" "79950567" "subst" "0.00783201" "02330" "DHFR_000016" "g.79950567G>A" "" "" "" "DHFR(NM_000791.3):c.-259C>T (p.(=)), MSH3(NM_002439.5):c.21G>A (p.A7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654748G>A" "" "benign" "" "0000526136" "0" "30" "5" "79950567" "79950567" "subst" "0.00783201" "02327" "DHFR_000016" "g.79950567G>A" "" "" "" "DHFR(NM_000791.3):c.-259C>T (p.(=)), MSH3(NM_002439.5):c.21G>A (p.A7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654748G>A" "" "likely benign" "" "0000526137" "0" "30" "5" "79950689" "79950689" "subst" "4.84971E-5" "02330" "DHFR_000017" "g.79950689A>C" "" "" "" "MSH3(NM_002439.5):c.143A>C (p.D48A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654870A>C" "" "likely benign" "" "0000526138" "0" "30" "5" "79950708" "79950708" "subst" "0.00582195" "02330" "DHFR_000018" "g.79950708T>C" "" "" "" "MSH3(NM_002439.4):c.162T>C (p.(=)), MSH3(NM_002439.4):c.162_171delTGCAGCGGCCinsCGCAGCGGCC (p.A54_A57=), MSH3(NM_002439.5):c.162T>C (p.A54=), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654889T>C" "" "likely benign" "" "0000526139" "0" "30" "5" "79950708" "79950716" "dup" "0" "02330" "DHFR_000019" "g.79950708_79950716dup" "" "" "" "MSH3(NM_002439.5):c.162_170dupTGCAGCGGC (p.A60_A62dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654889_80654897dup" "" "likely benign" "" "0000526140" "0" "10" "5" "79950708" "79950725" "del" "0.247302" "02330" "DHFR_000020" "g.79950708_79950725del" "" "" "" "DHFR(NM_000791.4):c.-409_-392delGGCCGCTGCAGCCGCTGC, MSH3(NM_002439.4):c.154_171del (p.(Ala57_Ala62del)), MSH3(NM_002439.5):c.162_179delTGCAGCGGCCGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654889_80654906del" "" "benign" "" "0000526141" "0" "10" "5" "79950708" "79950725" "del" "0.247302" "01804" "DHFR_000020" "g.79950708_79950725del" "" "" "" "DHFR(NM_000791.4):c.-409_-392delGGCCGCTGCAGCCGCTGC, MSH3(NM_002439.4):c.154_171del (p.(Ala57_Ala62del)), MSH3(NM_002439.5):c.162_179delTGCAGCGGCCGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654889_80654906del" "" "benign" "" "0000526142" "0" "10" "5" "79950724" "79950724" "subst" "0.0125688" "02330" "DHFR_000021" "g.79950724G>C" "" "" "" "DHFR(NM_000791.3):c.-416C>G (p.(=)), MSH3(NM_002439.5):c.178G>C (p.A60P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654905G>C" "" "benign" "" "0000526143" "0" "10" "5" "79950724" "79950732" "del" "0" "02330" "DHFR_000022" "g.79950724_79950732del" "" "" "" "DHFR(NM_000791.3):c.-409_-401del (p.(=)), DHFR(NM_000791.4):c.-409_-401delGGCCGCTGC, MSH3(NM_002439.4):c.178_186delGCCGCAGCG (p.A60_A62del), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654905_80654913del" "" "benign" "" "0000526144" "0" "10" "5" "79950724" "79950732" "del" "0" "01804" "DHFR_000022" "g.79950724_79950732del" "" "" "" "DHFR(NM_000791.3):c.-409_-401del (p.(=)), DHFR(NM_000791.4):c.-409_-401delGGCCGCTGC, MSH3(NM_002439.4):c.178_186delGCCGCAGCG (p.A60_A62del), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654905_80654913del" "" "benign" "" "0000526148" "0" "30" "5" "79950728" "79950729" "ins" "0.000112091" "02330" "DHFR_000026" "g.79950728_79950729insGCCCCCAGCGCCCCC" "" "" "" "MSH3(NM_002439.5):c.182_183insGCCCCCAGCGCCCCC (p.A61_A62insPPAPP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654909_80654910insGCCCCCAGCGCCCCC" "" "likely benign" "" "0000526149" "0" "10" "5" "79950732" "79950733" "ins" "0" "02330" "MSH3_000009" "g.79950732_79950733insGCCGCAGCGCCCGCAGCG" "" "" "" "DHFR(NM_000791.3):c.-417_-416insGCGCTGCGGCCGCTGCGG (p.(=)), MSH3(NM_002439.4):c.186_187insGCCGCAGCGCCCGCAGCG (p.A62_P63insAAAPAA), MSH3(NM_002439....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654913_80654914insGCCGCAGCGCCCGCAGCG" "" "benign" "" "0000526150" "0" "10" "5" "79950732" "79950733" "ins" "0" "01943" "MSH3_000009" "g.79950732_79950733insGCCGCAGCGCCCGCAGCG" "" "" "" "DHFR(NM_000791.3):c.-417_-416insGCGCTGCGGCCGCTGCGG (p.(=)), MSH3(NM_002439.4):c.186_187insGCCGCAGCGCCCGCAGCG (p.A62_P63insAAAPAA), MSH3(NM_002439....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654913_80654914insGCCGCAGCGCCCGCAGCG" "" "benign" "" "0000526151" "0" "10" "5" "79950735" "79950736" "ins" "0" "02330" "DHFR_000027" "g.79950735_79950736insGCAGCGCCCCCAGCGCCC" "" "" "" "DHFR(NM_000791.3):c.-420_-419insGGGGCGCTGCGGGCGCTG (p.(=)), MSH3(NM_002439.5):c.189_190insGCAGCGCCCCCAGCGCCC (p.P63_P64insAAPPAP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654916_80654917insGCAGCGCCCCCAGCGCCC" "" "benign" "" "0000526153" "0" "10" "5" "79950741" "79950749" "del" "0" "02325" "MSH3_000008" "g.79950741_79950749del" "" "" "" "DHFR(NM_000791.4):c.-428_-420delGGGGCGCTG, MSH3(NM_002439.4):c.195_203delGCCCCCAGC (p.P67_P69del), MSH3(NM_002439.5):c.195_203delGCCCCCAGC (p.P67_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654922_80654930del" "" "benign" "" "0000526154" "0" "10" "5" "79950741" "79950749" "dup" "0" "02330" "DHFR_000029" "g.79950741_79950749dup" "" "" "" "DHFR(NM_000791.3):c.-428_-420dup (p.(=)), MSH3(NM_002439.5):c.195_203dupGCCCCCAGC (p.P67_P69dup), MSH3(NM_002439.5):c.195_203dupGCCCCCAGC (p.Pro67...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654922_80654930dup" "" "benign" "" "0000526155" "0" "10" "5" "79950745" "79950753" "del" "0" "02330" "DHFR_000030" "g.79950745_79950753del" "" "" "" "MSH3(NM_002439.5):c.199_207delCCAGCTCCC (p.P67_P69del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654926_80654934del" "" "benign" "" "0000526156" "0" "10" "5" "79950749" "79950750" "ins" "0" "02330" "DHFR_000031" "g.79950749_79950750insGCCCCCAGCGCCCCCAGCGCCCCCAGC" "" "" "" "DHFR(NM_000791.3):c.-420_-419insGGGGCGCTGGGGGCGCTGGGGGCGCTG (p.(=)), MSH3(NM_002439.5):c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC (p.P69_A70ins9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654930_80654931insGCCCCCAGCGCCCCCAGCGCCCCCAGC" "" "benign" "" "0000526157" "0" "10" "5" "79950781" "79950781" "subst" "0.857268" "02330" "DHFR_000032" "g.79950781A>G" "" "" "" "MSH3(NM_002439.5):c.235A>G (p.I79V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654962A>G" "" "benign" "" "0000526158" "0" "50" "5" "79952279" "79952279" "subst" "6.09281E-5" "01943" "DHFR_000033" "g.79952279C>T" "" "" "" "MSH3(NM_002439.4):c.287C>T (p.P96L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80656460C>T" "" "VUS" "" "0000526159" "0" "10" "5" "79960955" "79960955" "subst" "0.24897" "02330" "DHFR_000034" "g.79960955G>A" "" "" "" "MSH3(NM_002439.5):c.359-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80665136G>A" "" "benign" "" "0000526160" "0" "10" "5" "79966029" "79966029" "subst" "0.133745" "02330" "DHFR_000035" "g.79966029G>A" "" "" "" "MSH3(NM_002439.5):c.693G>A (p.P231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80670210G>A" "" "benign" "" "0000526161" "0" "30" "5" "79966136" "79966136" "subst" "0.00037019" "01943" "DHFR_000036" "g.79966136G>A" "" "" "" "MSH3(NM_002439.4):c.792+8G>A, MSH3(NM_002439.5):c.792+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80670317G>A" "" "likely benign" "" "0000526162" "0" "30" "5" "79974726" "79974726" "subst" "2.033E-5" "02330" "DHFR_000037" "g.79974726A>G" "" "" "" "MSH3(NM_002439.5):c.1174-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80678907A>G" "" "likely benign" "" "0000526163" "0" "30" "5" "80021325" "80021325" "subst" "0.000195051" "02330" "MSH3_000014" "g.80021325A>G" "" "" "" "MSH3(NM_002439.4):c.1394A>G (p.(Tyr465Cys)), MSH3(NM_002439.5):c.1394A>G (p.Y465C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80725506A>G" "" "likely benign" "" "0000526164" "0" "50" "5" "80021327" "80021327" "subst" "2.43815E-5" "01804" "DHFR_000038" "g.80021327A>G" "" "" "" "MSH3(NM_002439.4):c.1396A>G (p.(Ser466Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80725508A>G" "" "VUS" "" "0000526165" "0" "90" "5" "80024689" "80024689" "dup" "0" "01943" "DHFR_000039" "g.80024689dup" "" "" "" "MSH3(NM_002439.4):c.1473dupC (p.I492Hfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80728870dup" "" "pathogenic" "" "0000526166" "0" "10" "5" "80024783" "80024783" "subst" "0.00193181" "02330" "DHFR_000040" "g.80024783G>A" "" "" "" "MSH3(NM_002439.4):c.1567G>A (p.(Glu523Lys)), MSH3(NM_002439.5):c.1567G>A (p.E523K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80728964G>A" "" "benign" "" "0000526167" "0" "10" "5" "80037285" "80037285" "subst" "0.000552882" "02330" "DHFR_000041" "g.80037285A>C" "" "" "" "MSH3(NM_002439.5):c.1571A>C (p.N524T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80741466A>C" "" "benign" "" "0000526168" "0" "30" "5" "80040326" "80040326" "subst" "3.68173E-5" "02330" "DHFR_000042" "g.80040326C>T" "" "" "" "MSH3(NM_002439.5):c.1655C>T (p.T552I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80744507C>T" "" "likely benign" "" "0000526169" "0" "30" "5" "80057418" "80057418" "subst" "3.25029E-5" "01943" "DHFR_000043" "g.80057418G>A" "" "" "" "MSH3(NM_002439.4):c.1817G>A (p.S606N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80761599G>A" "" "likely benign" "" "0000526170" "0" "10" "5" "80063744" "80063744" "subst" "0.00944581" "02330" "DHFR_000044" "g.80063744A>G" "" "" "" "MSH3(NM_002439.4):c.1897-8A>G (p.(=)), MSH3(NM_002439.5):c.1897-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80767925A>G" "" "benign" "" "0000526171" "0" "30" "5" "80063896" "80063896" "subst" "0.000760224" "02330" "DHFR_000045" "g.80063896C>T" "" "" "" "MSH3(NM_002439.4):c.2041C>T (p.P681S, p.(Pro681Ser)), MSH3(NM_002439.5):c.2041C>T (p.P681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80768077C>T" "" "likely benign" "" "0000526172" "0" "50" "5" "80063896" "80063896" "subst" "0.000760224" "01943" "DHFR_000045" "g.80063896C>T" "" "" "" "MSH3(NM_002439.4):c.2041C>T (p.P681S, p.(Pro681Ser)), MSH3(NM_002439.5):c.2041C>T (p.P681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80768077C>T" "" "VUS" "" "0000526173" "0" "30" "5" "80071494" "80071494" "subst" "0.00339843" "02330" "DHFR_000046" "g.80071494T>G" "" "" "" "MSH3(NM_002439.4):c.2254-19T>G (p.(=)), MSH3(NM_002439.5):c.2254-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80775675T>G" "" "likely benign" "" "0000526174" "0" "90" "5" "80074538" "80074538" "subst" "0" "02330" "MSH3_000006" "g.80074538G>A" "" "" "" "MSH3(NM_002439.5):c.2319-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80778719G>A" "" "pathogenic" "" "0000526175" "0" "30" "5" "80083371" "80083371" "subst" "0.000808542" "02330" "DHFR_000047" "g.80083371G>T" "" "" "" "MSH3(NM_002439.4):c.2436-13G>T (p.(=)), MSH3(NM_002439.5):c.2436-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80787552G>T" "" "likely benign" "" "0000526176" "0" "30" "5" "80088636" "80088636" "subst" "8.13683E-6" "02330" "DHFR_000048" "g.80088636A>G" "" "" "" "MSH3(NM_002439.5):c.2628A>G (p.Q876=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80792817A>G" "" "likely benign" "" "0000526177" "0" "30" "5" "80109432" "80109432" "subst" "0.000272139" "01943" "DHFR_000049" "g.80109432C>T" "" "" "" "MSH3(NM_002439.4):c.2685C>T (p.T895=), MSH3(NM_002439.5):c.2685C>T (p.T895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80813613C>T" "" "likely benign" "" "0000526178" "0" "30" "5" "80109479" "80109479" "subst" "0.00235548" "02330" "MSH3_000001" "g.80109479T>G" "" "" "" "MSH3(NM_002439.4):c.2732T>G (p.L911W, p.(Leu911Trp)), MSH3(NM_002439.5):c.2732T>G (p.L911W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80813660T>G" "" "likely benign" "" "0000526179" "0" "30" "5" "80109479" "80109479" "subst" "0.00235548" "01943" "MSH3_000001" "g.80109479T>G" "" "" "" "MSH3(NM_002439.4):c.2732T>G (p.L911W, p.(Leu911Trp)), MSH3(NM_002439.5):c.2732T>G (p.L911W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80813660T>G" "" "likely benign" "" "0000526180" "0" "10" "5" "80149981" "80149981" "subst" "0.873327" "02330" "DHFR_000050" "g.80149981A>G" "" "" "" "MSH3(NM_002439.5):c.2846A>G (p.Q949R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80854162A>G" "" "benign" "" "0000526181" "0" "10" "5" "80168937" "80168937" "subst" "0.729977" "02330" "DHFR_000051" "g.80168937G>A" "" "" "" "MSH3(NM_002439.5):c.3133G>A (p.A1045T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80873118G>A" "" "benign" "" "0000526182" "0" "30" "5" "80169086" "80169086" "subst" "1.22069E-5" "02330" "DHFR_000052" "g.80169086A>G" "" "" "" "MSH3(NM_002439.5):c.3282A>G (p.E1094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80873267A>G" "" "likely benign" "" "0000526183" "0" "30" "5" "80171631" "80171631" "subst" "0" "02330" "DHFR_000053" "g.80171631T>C" "" "" "" "MSH3(NM_002439.5):c.3364T>C (p.W1122R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80875812T>C" "" "likely benign" "" "0000597244" "0" "50" "5" "80063896" "80063896" "subst" "0.000760224" "01164" "DHFR_000045" "g.80063896C>T" "" "" "" "" "reported in Ohmiya 2001. Gene 272: 301" "Germline" "" "rs115198722" "0" "" "" "g.80768077C>T" "" "VUS" "ACMG" "0000598534" "0" "70" "5" "80083383" "80083383" "subst" "1.62525E-5" "01164" "MSH3_000015" "g.80083383G>A" "" "" "" "" "ACMG: PM2,PVS1" "Germline" "" "rs200639359" "0" "" "" "g.80787564G>A" "" "likely pathogenic" "ACMG" "0000609802" "0" "30" "5" "79950708" "79950716" "del" "0" "02325" "DHFR_000054" "g.79950708_79950716del" "" "" "" "DHFR(NM_000791.3):c.-397_-389del (p.(=)), MSH3(NM_002439.5):c.162_170delTGCAGCGGC (p.A60_A62del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654889_80654897del" "" "likely benign" "" "0000609803" "0" "70" "5" "79950784" "79950784" "subst" "0" "02330" "DHFR_000055" "g.79950784G>C" "" "" "" "DHFR(NM_000791.3):c.-476C>G (p.(=)), MSH3(NM_002439.5):c.237+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654965G>C" "" "likely pathogenic" "" "0000609804" "0" "30" "5" "79952283" "79952283" "subst" "0" "02330" "DHFR_000056" "g.79952283T>G" "" "" "" "MSH3(NM_002439.5):c.291T>G (p.V97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80656464T>G" "" "likely benign" "" "0000609805" "0" "30" "5" "79961165" "79961165" "subst" "0.000166874" "02330" "DHFR_000057" "g.79961165C>T" "" "" "" "MSH3(NM_002439.5):c.562C>T (p.R188C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80665346C>T" "" "likely benign" "" "0000609806" "0" "30" "5" "79966006" "79966006" "subst" "3.24918E-5" "02330" "DHFR_000058" "g.79966006C>T" "" "" "" "MSH3(NM_002439.5):c.670C>T (p.R224W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80670187C>T" "" "likely benign" "" "0000609807" "0" "30" "5" "79966135" "79966135" "subst" "0.00012607" "02330" "DHFR_000059" "g.79966135C>T" "" "" "" "MSH3(NM_002439.5):c.792+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80670316C>T" "" "likely benign" "" "0000609808" "0" "30" "5" "79966136" "79966136" "subst" "0.00037019" "02330" "DHFR_000036" "g.79966136G>A" "" "" "" "MSH3(NM_002439.4):c.792+8G>A, MSH3(NM_002439.5):c.792+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80670317G>A" "" "likely benign" "" "0000609809" "0" "50" "5" "79968669" "79968669" "subst" "4.06134E-6" "02325" "DHFR_000060" "g.79968669T>C" "" "" "" "MSH3(NM_002439.5):c.1019T>C (p.I340T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80672850T>C" "" "VUS" "" "0000621592" "0" "30" "5" "80021399" "80021399" "subst" "0.000951575" "02330" "DHFR_000061" "g.80021399T>C" "" "" "" "MSH3(NM_002439.4):c.1453+15T>C (p.(=)), MSH3(NM_002439.5):c.1453+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80725580T>C" "" "likely benign" "" "0000621593" "0" "30" "5" "80024739" "80024739" "subst" "1.21903E-5" "02330" "DHFR_000062" "g.80024739A>G" "" "" "" "MSH3(NM_002439.5):c.1523A>G (p.K508R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80728920A>G" "" "likely benign" "" "0000621594" "0" "50" "5" "80063896" "80063896" "subst" "0.000760224" "02325" "DHFR_000045" "g.80063896C>T" "" "" "" "MSH3(NM_002439.4):c.2041C>T (p.P681S, p.(Pro681Ser)), MSH3(NM_002439.5):c.2041C>T (p.P681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80768077C>T" "" "VUS" "" "0000655415" "0" "30" "5" "79950675" "79950675" "subst" "0.00507209" "02330" "DHFR_000063" "g.79950675A>G" "" "" "" "MSH3(NM_002439.5):c.129A>G (p.A43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654856A>G" "" "likely benign" "" "0000655416" "0" "10" "5" "79950732" "79950749" "dup" "0" "02330" "DHFR_000064" "g.79950732_79950749dup" "" "" "" "DHFR(NM_000791.3):c.-437_-420dup (p.(=)), MSH3(NM_002439.4):c.186_203dupGCCCCCAGCGCCCCCAGC (p.P64_P69dup), MSH3(NM_002439.5):c.186_203dupGCCCCCAGCG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654913_80654930dup" "" "benign" "" "0000655417" "0" "10" "5" "79950741" "79950749" "dup" "0" "02329" "DHFR_000029" "g.79950741_79950749dup" "" "" "" "DHFR(NM_000791.3):c.-428_-420dup (p.(=)), MSH3(NM_002439.5):c.195_203dupGCCCCCAGC (p.P67_P69dup), MSH3(NM_002439.5):c.195_203dupGCCCCCAGC (p.Pro67...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80654922_80654930dup" "" "benign" "" "0000655418" "0" "90" "5" "79961183" "79961183" "subst" "0" "02330" "DHFR_000065" "g.79961183G>C" "" "" "" "MSH3(NM_002439.5):c.579+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80665364G>C" "" "pathogenic" "" "0000655419" "0" "30" "5" "80109479" "80109479" "subst" "0.00235548" "02327" "MSH3_000001" "g.80109479T>G" "" "" "" "MSH3(NM_002439.4):c.2732T>G (p.L911W, p.(Leu911Trp)), MSH3(NM_002439.5):c.2732T>G (p.L911W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80813660T>G" "" "likely benign" "" "0000659575" "0" "50" "5" "80021325" "80021325" "subst" "0.000195051" "01164" "MSH3_000014" "g.80021325A>G" "" "" "" "" "ACMG: PM2,PP3; co-occurence with pathogenic variant APC:c.422+2T>C" "Germline" "" "rs35009542" "0" "" "" "g.80725506A>G" "" "VUS" "ACMG" "0000677553" "0" "10" "5" "79950719" "79950719" "subst" "0.00123024" "02329" "DHFR_000066" "g.79950719C>T" "" "" "" "MSH3(NM_002439.5):c.173C>T (p.A58V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677554" "0" "10" "5" "79950732" "79950749" "dup" "0" "02329" "DHFR_000064" "g.79950732_79950749dup" "" "" "" "DHFR(NM_000791.3):c.-437_-420dup (p.(=)), MSH3(NM_002439.4):c.186_203dupGCCCCCAGCGCCCCCAGC (p.P64_P69dup), MSH3(NM_002439.5):c.186_203dupGCCCCCAGCG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689552" "0" "30" "5" "79929740" "79929740" "subst" "0.000658579" "01943" "DHFR_000067" "g.79929740C>T" "" "" "" "DHFR(NM_000791.3):c.441G>A (p.T147=), DHFR(NM_000791.4):c.441G>A (p.T147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689553" "0" "30" "5" "80063847" "80063847" "subst" "0.0010444" "01943" "DHFR_000068" "g.80063847G>A" "" "" "" "MSH3(NM_002439.4):c.1992G>A (p.Q664=), MSH3(NM_002439.5):c.1992G>A (p.Gln664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689554" "0" "30" "5" "80083386" "80083386" "subst" "0.000243778" "02330" "DHFR_000069" "g.80083386A>G" "" "" "" "MSH3(NM_002439.5):c.2438A>G (p.K813R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689555" "0" "30" "5" "80150135" "80150135" "subst" "9.36635E-5" "02330" "DHFR_000070" "g.80150135T>G" "" "" "" "MSH3(NM_002439.5):c.3000T>G (p.D1000E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000711047" "0" "50" "5" "79950776" "79950778" "dup" "0" "03514" "MSH3_000016" "g.79950776_79950778dup" "" "" "" "224_225insGCC" "" "Germline/De novo (untested)" "?" "rs1490449810" "0" "" "" "" "" "VUS" "InSiGHT" "0000720508" "0" "30" "5" "79949873" "79949873" "subst" "0.000247127" "01943" "DHFR_000071" "g.79949873A>C" "" "" "" "DHFR(NM_000791.3):c.90T>G (p.N30K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720509" "0" "10" "5" "79950567" "79950567" "subst" "0.00783201" "02329" "DHFR_000016" "g.79950567G>A" "" "" "" "DHFR(NM_000791.3):c.-259C>T (p.(=)), MSH3(NM_002439.5):c.21G>A (p.A7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720510" "0" "10" "5" "79950732" "79950733" "ins" "0" "02329" "MSH3_000009" "g.79950732_79950733insGCCGCAGCGCCCGCAGCG" "" "" "" "DHFR(NM_000791.3):c.-417_-416insGCGCTGCGGCCGCTGCGG (p.(=)), MSH3(NM_002439.4):c.186_187insGCCGCAGCGCCCGCAGCG (p.A62_P63insAAAPAA), MSH3(NM_002439....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720511" "0" "30" "5" "79950735" "79950736" "ins" "0" "02330" "DHFR_000072" "g.79950735_79950736insGCAGCGCCCGCAGCGCCC" "" "" "" "MSH3(NM_002439.5):c.189_190insGCAGCGCCCGCAGCGCCC (p.P63_P64insAAPAAP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720512" "0" "30" "5" "80109479" "80109479" "subst" "0.00235548" "02329" "MSH3_000001" "g.80109479T>G" "" "" "" "MSH3(NM_002439.4):c.2732T>G (p.L911W, p.(Leu911Trp)), MSH3(NM_002439.5):c.2732T>G (p.L911W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720513" "0" "50" "5" "80149953" "80149953" "subst" "0.000171275" "02326" "DHFR_000073" "g.80149953G>T" "" "" "" "MSH3(NM_002439.5):c.2818G>T (p.G940C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802185" "0" "30" "5" "79924975" "79924975" "subst" "0" "02326" "DHFR_000075" "g.79924975A>C" "" "" "" "DHFR(NM_000791.4):c.495T>G (p.G165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802186" "0" "30" "5" "79950708" "79950708" "subst" "0.00582195" "01943" "DHFR_000018" "g.79950708T>C" "" "" "" "MSH3(NM_002439.4):c.162T>C (p.(=)), MSH3(NM_002439.4):c.162_171delTGCAGCGGCCinsCGCAGCGGCC (p.A54_A57=), MSH3(NM_002439.5):c.162T>C (p.A54=), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802187" "0" "30" "5" "79950724" "79950732" "del" "0" "01943" "DHFR_000022" "g.79950724_79950732del" "" "" "" "DHFR(NM_000791.3):c.-409_-401del (p.(=)), DHFR(NM_000791.4):c.-409_-401delGGCCGCTGC, MSH3(NM_002439.4):c.178_186delGCCGCAGCG (p.A60_A62del), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802188" "0" "10" "5" "79950727" "79950735" "dup" "0" "02369" "MSH3_000005" "g.79950727_79950735dup" "" "" "" "MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.A61_P63dup), MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.Ala61_Pro63dup, p.A61_P63dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802189" "0" "10" "5" "79950732" "79950733" "ins" "0" "02369" "MSH3_000009" "g.79950732_79950733insGCCGCAGCGCCCGCAGCG" "" "" "" "DHFR(NM_000791.3):c.-417_-416insGCGCTGCGGCCGCTGCGG (p.(=)), MSH3(NM_002439.4):c.186_187insGCCGCAGCGCCCGCAGCG (p.A62_P63insAAAPAA), MSH3(NM_002439....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802190" "0" "50" "5" "79950732" "79950749" "dup" "0" "01943" "DHFR_000064" "g.79950732_79950749dup" "" "" "" "DHFR(NM_000791.3):c.-437_-420dup (p.(=)), MSH3(NM_002439.4):c.186_203dupGCCCCCAGCGCCCCCAGC (p.P64_P69dup), MSH3(NM_002439.5):c.186_203dupGCCCCCAGCG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802191" "0" "50" "5" "80021366" "80021366" "subst" "0" "01943" "DHFR_000076" "g.80021366G>T" "" "" "" "MSH3(NM_002439.4):c.1435G>T (p.D479Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802192" "0" "10" "5" "80024608" "80024608" "subst" "0" "02369" "DHFR_000077" "g.80024608A>G" "" "" "" "MSH3(NM_002439.5):c.1454-62A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802193" "0" "30" "5" "80063847" "80063847" "subst" "0.0010444" "02369" "DHFR_000068" "g.80063847G>A" "" "" "" "MSH3(NM_002439.4):c.1992G>A (p.Q664=), MSH3(NM_002439.5):c.1992G>A (p.Gln664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802194" "0" "50" "5" "80074610" "80074610" "subst" "0" "01943" "DHFR_000078" "g.80074610A>G" "" "" "" "MSH3(NM_002439.4):c.2390A>G (p.E797G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802195" "0" "50" "5" "80083459" "80083459" "subst" "0.000633755" "01943" "DHFR_000079" "g.80083459G>A" "" "" "" "MSH3(NM_002439.4):c.2511G>A (p.L837=, p.(Leu837=)), MSH3(NM_002439.5):c.2511G>A (p.L837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850969" "0" "10" "5" "79950727" "79950735" "dup" "0" "02329" "MSH3_000005" "g.79950727_79950735dup" "" "" "" "MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.A61_P63dup), MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.Ala61_Pro63dup, p.A61_P63dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850970" "0" "10" "5" "79950741" "79950749" "del" "0" "02330" "MSH3_000008" "g.79950741_79950749del" "" "" "" "DHFR(NM_000791.4):c.-428_-420delGGGGCGCTG, MSH3(NM_002439.4):c.195_203delGCCCCCAGC (p.P67_P69del), MSH3(NM_002439.5):c.195_203delGCCCCCAGC (p.P67_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850971" "0" "10" "5" "79950741" "79950749" "dup" "0" "02369" "DHFR_000029" "g.79950741_79950749dup" "" "" "" "DHFR(NM_000791.3):c.-428_-420dup (p.(=)), MSH3(NM_002439.5):c.195_203dupGCCCCCAGC (p.P67_P69dup), MSH3(NM_002439.5):c.195_203dupGCCCCCAGC (p.Pro67...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850972" "0" "30" "5" "80057515" "80057515" "subst" "0.000671753" "02329" "DHFR_000081" "g.80057515C>T" "" "" "" "MSH3(NM_002439.5):c.1896+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860008" "0" "30" "5" "79950567" "79950567" "subst" "0.00783201" "01804" "DHFR_000016" "g.79950567G>A" "" "" "" "DHFR(NM_000791.3):c.-259C>T (p.(=)), MSH3(NM_002439.5):c.21G>A (p.A7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860009" "0" "30" "5" "79950724" "79950724" "subst" "0.0125688" "01804" "DHFR_000021" "g.79950724G>C" "" "" "" "DHFR(NM_000791.3):c.-416C>G (p.(=)), MSH3(NM_002439.5):c.178G>C (p.A60P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860010" "0" "10" "5" "80057356" "80057357" "del" "0" "02329" "DHFR_000080" "g.80057356_80057357del" "" "" "" "MSH3(NM_002439.4):c.1764-9_1764-8del (p.(=)), MSH3(NM_002439.5):c.1764-9_1764-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860011" "0" "50" "5" "80109479" "80109479" "subst" "0.00235548" "01804" "MSH3_000001" "g.80109479T>G" "" "" "" "MSH3(NM_002439.4):c.2732T>G (p.L911W, p.(Leu911Trp)), MSH3(NM_002439.5):c.2732T>G (p.L911W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886916" "0" "30" "5" "79929740" "79929740" "subst" "0.000658579" "02326" "DHFR_000067" "g.79929740C>T" "" "" "" "DHFR(NM_000791.3):c.441G>A (p.T147=), DHFR(NM_000791.4):c.441G>A (p.T147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886917" "0" "30" "5" "79950708" "79950708" "subst" "0.00582195" "01804" "DHFR_000018" "g.79950708T>C" "" "" "" "MSH3(NM_002439.4):c.162T>C (p.(=)), MSH3(NM_002439.4):c.162_171delTGCAGCGGCCinsCGCAGCGGCC (p.A54_A57=), MSH3(NM_002439.5):c.162T>C (p.A54=), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886918" "0" "30" "5" "79950735" "79950736" "ins" "0" "02325" "DHFR_000072" "g.79950735_79950736insGCAGCGCCCGCAGCGCCC" "" "" "" "MSH3(NM_002439.5):c.189_190insGCAGCGCCCGCAGCGCCC (p.P63_P64insAAPAAP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886919" "0" "30" "5" "80057395" "80057395" "subst" "0.000914151" "02330" "DHFR_000082" "g.80057395G>A" "" "" "" "MSH3(NM_002439.4):c.1794G>A (p.(Ser598=)), MSH3(NM_002439.5):c.1794G>A (p.S598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886920" "0" "30" "5" "80088663" "80088663" "subst" "6.1191E-5" "02325" "DHFR_000083" "g.80088663A>G" "" "" "" "MSH3(NM_002439.5):c.2655A>G (p.S885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886921" "0" "50" "5" "80150127" "80150127" "subst" "0.000203581" "02325" "DHFR_000084" "g.80150127A>G" "" "" "" "MSH3(NM_002439.5):c.2992A>G (p.I998V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912365" "0" "10" "5" "79950708" "79950725" "del" "0.247302" "02325" "DHFR_000020" "g.79950708_79950725del" "" "" "" "DHFR(NM_000791.4):c.-409_-392delGGCCGCTGCAGCCGCTGC, MSH3(NM_002439.4):c.154_171del (p.(Ala57_Ala62del)), MSH3(NM_002439.5):c.162_179delTGCAGCGGCCGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912366" "0" "90" "5" "79961183" "79961183" "subst" "0" "02325" "DHFR_000085" "g.79961183G>A" "" "" "" "MSH3(NM_002439.5):c.579+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924380" "0" "30" "5" "79950708" "79950725" "del" "0.247302" "02326" "DHFR_000020" "g.79950708_79950725del" "" "" "" "DHFR(NM_000791.4):c.-409_-392delGGCCGCTGCAGCCGCTGC, MSH3(NM_002439.4):c.154_171del (p.(Ala57_Ala62del)), MSH3(NM_002439.5):c.162_179delTGCAGCGGCCGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924381" "0" "90" "5" "79950784" "79950784" "subst" "0" "02325" "DHFR_000055" "g.79950784G>C" "" "" "" "DHFR(NM_000791.3):c.-476C>G (p.(=)), MSH3(NM_002439.5):c.237+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924382" "0" "30" "5" "79966135" "79966135" "subst" "0.00012607" "02329" "DHFR_000059" "g.79966135C>T" "" "" "" "MSH3(NM_002439.5):c.792+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924383" "0" "10" "5" "80057395" "80057395" "subst" "0.000914151" "02326" "DHFR_000082" "g.80057395G>A" "" "" "" "MSH3(NM_002439.4):c.1794G>A (p.(Ser598=)), MSH3(NM_002439.5):c.1794G>A (p.S598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924384" "0" "50" "5" "80071494" "80071494" "subst" "0.00339843" "01804" "DHFR_000046" "g.80071494T>G" "" "" "" "MSH3(NM_002439.4):c.2254-19T>G (p.(=)), MSH3(NM_002439.5):c.2254-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929102" "0" "10" "5" "79950724" "79950732" "del" "0" "02326" "DHFR_000022" "g.79950724_79950732del" "" "" "" "DHFR(NM_000791.3):c.-409_-401del (p.(=)), DHFR(NM_000791.4):c.-409_-401delGGCCGCTGC, MSH3(NM_002439.4):c.178_186delGCCGCAGCG (p.A60_A62del), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929103" "0" "50" "5" "80021274" "80021274" "subst" "0" "02325" "DHFR_000086" "g.80021274T>A" "" "" "" "MSH3(NM_002439.5):c.1343T>A (p.V448E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929104" "0" "50" "5" "80021292" "80021292" "subst" "0.000178903" "02325" "DHFR_000087" "g.80021292G>A" "" "" "" "MSH3(NM_002439.5):c.1361G>A (p.R454Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929105" "0" "50" "5" "80021325" "80021325" "subst" "0.000195051" "01804" "MSH3_000014" "g.80021325A>G" "" "" "" "MSH3(NM_002439.4):c.1394A>G (p.(Tyr465Cys)), MSH3(NM_002439.5):c.1394A>G (p.Y465C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929106" "0" "10" "5" "80024783" "80024783" "subst" "0.00193181" "02326" "DHFR_000040" "g.80024783G>A" "" "" "" "MSH3(NM_002439.4):c.1567G>A (p.(Glu523Lys)), MSH3(NM_002439.5):c.1567G>A (p.E523K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929107" "0" "10" "5" "80063744" "80063744" "subst" "0.00944581" "02329" "DHFR_000044" "g.80063744A>G" "" "" "" "MSH3(NM_002439.4):c.1897-8A>G (p.(=)), MSH3(NM_002439.5):c.1897-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929108" "0" "50" "5" "80063924" "80063924" "subst" "0.000187103" "01804" "DHFR_000088" "g.80063924A>G" "" "" "" "MSH3(NM_002439.4):c.2069A>G (p.(Asn690Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929109" "0" "30" "5" "80083459" "80083459" "subst" "0.000633755" "02326" "DHFR_000079" "g.80083459G>A" "" "" "" "MSH3(NM_002439.4):c.2511G>A (p.L837=, p.(Leu837=)), MSH3(NM_002439.5):c.2511G>A (p.L837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948578" "0" "10" "5" "79950708" "79950725" "del" "0.247302" "02329" "DHFR_000020" "g.79950708_79950725del" "" "" "" "DHFR(NM_000791.4):c.-409_-392delGGCCGCTGCAGCCGCTGC, MSH3(NM_002439.4):c.154_171del (p.(Ala57_Ala62del)), MSH3(NM_002439.5):c.162_179delTGCAGCGGCCGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948579" "0" "10" "5" "79950741" "79950749" "dup" "0" "01804" "DHFR_000029" "g.79950741_79950749dup" "" "" "" "DHFR(NM_000791.3):c.-428_-420dup (p.(=)), MSH3(NM_002439.5):c.195_203dupGCCCCCAGC (p.P67_P69dup), MSH3(NM_002439.5):c.195_203dupGCCCCCAGC (p.Pro67...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948580" "0" "50" "5" "79950749" "79950750" "ins" "0" "01804" "DHFR_000091" "g.79950749_79950750insGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGC" "" "" "" "DHFR(NM_000791.3):c.-420_-419insGGGGCGCTGGGGGCGCTGGGGGCGCTGGGGGCGCTG (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948581" "0" "30" "5" "79950751" "79950751" "subst" "0.0013438" "02329" "DHFR_000092" "g.79950751C>T" "" "" "" "MSH3(NM_002439.5):c.205C>T (p.P69S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948582" "0" "10" "5" "79950781" "79950781" "subst" "0.857268" "02329" "DHFR_000032" "g.79950781A>G" "" "" "" "MSH3(NM_002439.5):c.235A>G (p.I79V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948583" "0" "70" "5" "79950784" "79950784" "subst" "0" "01804" "DHFR_000055" "g.79950784G>C" "" "" "" "DHFR(NM_000791.3):c.-476C>G (p.(=)), MSH3(NM_002439.5):c.237+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948584" "0" "50" "5" "80021325" "80021325" "subst" "0.000195051" "02326" "MSH3_000014" "g.80021325A>G" "" "" "" "MSH3(NM_002439.4):c.1394A>G (p.(Tyr465Cys)), MSH3(NM_002439.5):c.1394A>G (p.Y465C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948585" "0" "30" "5" "80024783" "80024783" "subst" "0.00193181" "02329" "DHFR_000040" "g.80024783G>A" "" "" "" "MSH3(NM_002439.4):c.1567G>A (p.(Glu523Lys)), MSH3(NM_002439.5):c.1567G>A (p.E523K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963690" "0" "30" "5" "79950708" "79950716" "del" "0" "01804" "DHFR_000054" "g.79950708_79950716del" "" "" "" "DHFR(NM_000791.3):c.-397_-389del (p.(=)), MSH3(NM_002439.5):c.162_170delTGCAGCGGC (p.A60_A62del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963691" "0" "10" "5" "79950727" "79950727" "subst" "0.000840686" "01804" "DHFR_000093" "g.79950727G>C" "" "" "" "DHFR(NM_000791.3):c.-419delinsG (p.(=)), MSH3(NM_002439.5):c.181G>C (p.A61P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963692" "0" "30" "5" "79950732" "79950749" "dup" "0" "01804" "DHFR_000064" "g.79950732_79950749dup" "" "" "" "DHFR(NM_000791.3):c.-437_-420dup (p.(=)), MSH3(NM_002439.4):c.186_203dupGCCCCCAGCGCCCCCAGC (p.P64_P69dup), MSH3(NM_002439.5):c.186_203dupGCCCCCAGCG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963693" "0" "30" "5" "79950736" "79950736" "subst" "0" "01804" "DHFR_000094" "g.79950736C>G" "" "" "" "DHFR(NM_000791.3):c.-428G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963694" "0" "50" "5" "79950742" "79950742" "subst" "2.47619E-5" "02327" "DHFR_000095" "g.79950742C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963695" "0" "30" "5" "79950750" "79950750" "subst" "0.000764511" "01804" "DHFR_000096" "g.79950750T>G" "" "" "" "DHFR(NM_000791.3):c.-442A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963696" "0" "50" "5" "80021325" "80021325" "subst" "0.000195051" "02329" "MSH3_000014" "g.80021325A>G" "" "" "" "MSH3(NM_002439.4):c.1394A>G (p.(Tyr465Cys)), MSH3(NM_002439.5):c.1394A>G (p.Y465C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963697" "0" "10" "5" "80063744" "80063744" "subst" "0.00944581" "01804" "DHFR_000044" "g.80063744A>G" "" "" "" "MSH3(NM_002439.4):c.1897-8A>G (p.(=)), MSH3(NM_002439.5):c.1897-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963698" "0" "30" "5" "80063896" "80063896" "subst" "0.000760224" "02329" "DHFR_000045" "g.80063896C>T" "" "" "" "MSH3(NM_002439.4):c.2041C>T (p.P681S, p.(Pro681Ser)), MSH3(NM_002439.5):c.2041C>T (p.P681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963699" "0" "50" "5" "80109455" "80109455" "subst" "0" "02325" "DHFR_000097" "g.80109455G>T" "" "" "" "MSH3(NM_002439.5):c.2708G>T (p.S903I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963700" "0" "50" "5" "80168918" "80168918" "subst" "7.7259E-5" "01804" "DHFR_000098" "g.80168918C>T" "" "" "" "MSH3(NM_002439.4):c.3131-17C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976861" "0" "30" "5" "79950708" "79950708" "subst" "0.00582195" "02329" "DHFR_000018" "g.79950708T>C" "" "" "" "MSH3(NM_002439.4):c.162T>C (p.(=)), MSH3(NM_002439.4):c.162_171delTGCAGCGGCCinsCGCAGCGGCC (p.A54_A57=), MSH3(NM_002439.5):c.162T>C (p.A54=), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976862" "0" "10" "5" "79950724" "79950724" "subst" "0.0125688" "02329" "DHFR_000021" "g.79950724G>C" "" "" "" "DHFR(NM_000791.3):c.-416C>G (p.(=)), MSH3(NM_002439.5):c.178G>C (p.A60P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976863" "0" "30" "5" "79950724" "79950732" "del" "0" "02329" "DHFR_000022" "g.79950724_79950732del" "" "" "" "DHFR(NM_000791.3):c.-409_-401del (p.(=)), DHFR(NM_000791.4):c.-409_-401delGGCCGCTGC, MSH3(NM_002439.4):c.178_186delGCCGCAGCG (p.A60_A62del), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976864" "0" "30" "5" "80021399" "80021399" "subst" "0.000951575" "01804" "DHFR_000061" "g.80021399T>C" "" "" "" "MSH3(NM_002439.4):c.1453+15T>C (p.(=)), MSH3(NM_002439.5):c.1453+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976865" "0" "30" "5" "80057395" "80057395" "subst" "0.000914151" "02329" "DHFR_000082" "g.80057395G>A" "" "" "" "MSH3(NM_002439.4):c.1794G>A (p.(Ser598=)), MSH3(NM_002439.5):c.1794G>A (p.S598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976866" "0" "70" "5" "80063915" "80063915" "dup" "0" "02329" "DHFR_000099" "g.80063915dup" "" "" "" "MSH3(NM_002439.5):c.2060dupA (p.I688Dfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976867" "0" "10" "5" "80071494" "80071494" "subst" "0.00339843" "02329" "DHFR_000046" "g.80071494T>G" "" "" "" "MSH3(NM_002439.4):c.2254-19T>G (p.(=)), MSH3(NM_002439.5):c.2254-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976868" "0" "50" "5" "80071540" "80071540" "subst" "1.63125E-5" "02329" "DHFR_000100" "g.80071540G>T" "" "" "" "MSH3(NM_002439.5):c.2281G>T (p.V761L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995179" "0" "50" "5" "79950682" "79950682" "subst" "0" "01804" "DHFR_000101" "g.79950682C>T" "" "" "" "MSH3(NM_002439.4):c.136C>T (p.(Gln46Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995180" "0" "50" "5" "79950737" "79950737" "dup" "0" "01804" "DHFR_000102" "g.79950737dup" "" "" "" "MSH3(NM_002439.4):c.191dup (p.(Ala65SerfsTer20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995181" "0" "70" "5" "79970922" "79970922" "del" "0" "01804" "MSH3_000003" "g.79970922del" "" "" "" "MSH3(NM_002439.4):c.1148del (p.(Lys383ArgfsTer32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995182" "0" "50" "5" "79974734" "79974734" "subst" "0.000296746" "01804" "DHFR_000103" "g.79974734A>G" "" "" "" "MSH3(NM_002439.4):c.1174-12A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995183" "0" "50" "5" "79974766" "79974766" "subst" "7.31529E-5" "01804" "DHFR_000104" "g.79974766C>T" "" "" "" "MSH3(NM_002439.4):c.1194C>T (p.(Gly398=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995184" "0" "30" "5" "80057356" "80057357" "del" "0" "01804" "DHFR_000080" "g.80057356_80057357del" "" "" "" "MSH3(NM_002439.4):c.1764-9_1764-8del (p.(=)), MSH3(NM_002439.5):c.1764-9_1764-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995185" "0" "30" "5" "80109432" "80109432" "subst" "0.000272139" "02329" "DHFR_000049" "g.80109432C>T" "" "" "" "MSH3(NM_002439.4):c.2685C>T (p.T895=), MSH3(NM_002439.5):c.2685C>T (p.T895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995186" "0" "30" "5" "80169038" "80169038" "subst" "0" "01804" "DHFR_000105" "g.80169038T>C" "" "" "" "MSH3(NM_002439.4):c.3234T>C (p.(Val1078=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014145" "0" "30" "5" "79950432" "79950432" "subst" "0" "01804" "DHFR_000106" "g.79950432G>C" "" "" "" "DHFR(NM_000791.3):c.-124C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016684" "0" "90" "5" "79968072" "79968072" "subst" "1.21861E-5" "04749" "MSH3_000017" "g.79968072C>T" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.80672253C>T" "" "pathogenic" "" "0001025128" "0" "50" "5" "79950438" "79950438" "subst" "7.57461E-6" "01804" "DHFR_000107" "g.79950438G>A" "" "" "" "DHFR(NM_000791.3):c.-130C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025129" "0" "30" "5" "79950727" "79950727" "subst" "0.000840686" "02329" "DHFR_000093" "g.79950727G>C" "" "" "" "DHFR(NM_000791.3):c.-419delinsG (p.(=)), MSH3(NM_002439.5):c.181G>C (p.A61P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025130" "0" "50" "5" "79950735" "79950736" "ins" "0" "02329" "DHFR_000072" "g.79950735_79950736insGCAGCGCCCGCAGCGCCC" "" "" "" "MSH3(NM_002439.5):c.189_190insGCAGCGCCCGCAGCGCCC (p.P63_P64insAAPAAP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025131" "0" "10" "5" "79950749" "79950750" "ins" "0" "02329" "DHFR_000031" "g.79950749_79950750insGCCCCCAGCGCCCCCAGCGCCCCCAGC" "" "" "" "DHFR(NM_000791.3):c.-420_-419insGGGGCGCTGGGGGCGCTGGGGGCGCTG (p.(=)), MSH3(NM_002439.5):c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC (p.P69_A70ins9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025132" "0" "50" "5" "79950761" "79950761" "subst" "0" "02329" "MSH3_000010" "g.79950761C>T" "" "" "" "MSH3(NM_002439.4):c.215C>T (p.(Pro72Leu)), MSH3(NM_002439.5):c.215C>T (p.P72L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025133" "0" "10" "5" "79951030" "79951030" "subst" "0" "02327" "DHFR_000108" "g.79951030G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025134" "0" "10" "5" "79951032" "79951032" "subst" "0" "02327" "DHFR_000109" "g.79951032A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025135" "0" "50" "5" "80024739" "80024739" "subst" "1.21903E-5" "02329" "DHFR_000062" "g.80024739A>G" "" "" "" "MSH3(NM_002439.5):c.1523A>G (p.K508R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025136" "0" "30" "5" "80037285" "80037285" "subst" "0.000552882" "02329" "DHFR_000041" "g.80037285A>C" "" "" "" "MSH3(NM_002439.5):c.1571A>C (p.N524T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025137" "0" "30" "5" "80063896" "80063896" "subst" "0.000760224" "02326" "DHFR_000045" "g.80063896C>T" "" "" "" "MSH3(NM_002439.4):c.2041C>T (p.P681S, p.(Pro681Ser)), MSH3(NM_002439.5):c.2041C>T (p.P681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025138" "0" "30" "5" "80074514" "80074514" "subst" "4.87892E-5" "02329" "DHFR_000110" "g.80074514A>G" "" "" "" "MSH3(NM_002439.5):c.2319-25A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025139" "0" "50" "5" "80074645" "80074645" "subst" "0" "02329" "DHFR_000111" "g.80074645G>A" "" "" "" "MSH3(NM_002439.5):c.2425G>A (p.D809N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035325" "0" "30" "5" "79950708" "79950708" "subst" "0.00582195" "02327" "DHFR_000018" "g.79950708T>C" "" "" "" "MSH3(NM_002439.4):c.162T>C (p.(=)), MSH3(NM_002439.4):c.162_171delTGCAGCGGCCinsCGCAGCGGCC (p.A54_A57=), MSH3(NM_002439.5):c.162T>C (p.A54=), MSH3...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035326" "0" "10" "5" "79950749" "79950750" "ins" "0" "01804" "DHFR_000031" "g.79950749_79950750insGCCCCCAGCGCCCCCAGCGCCCCCAGC" "" "" "" "DHFR(NM_000791.3):c.-420_-419insGGGGCGCTGGGGGCGCTGGGGGCGCTG (p.(=)), MSH3(NM_002439.5):c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC (p.P69_A70ins9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035327" "0" "30" "5" "79974766" "79974766" "subst" "7.31529E-5" "02327" "DHFR_000104" "g.79974766C>T" "" "" "" "MSH3(NM_002439.4):c.1194C>T (p.(Gly398=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035328" "0" "10" "5" "80063744" "80063744" "subst" "0.00944581" "02327" "DHFR_000044" "g.80063744A>G" "" "" "" "MSH3(NM_002439.4):c.1897-8A>G (p.(=)), MSH3(NM_002439.5):c.1897-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035329" "0" "50" "5" "80064749" "80064749" "subst" "0.000142389" "01804" "DHFR_000112" "g.80064749G>A" "" "" "" "MSH3(NM_002439.4):c.2180G>A (p.(Arg727Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046035" "0" "50" "5" "79950724" "79950732" "dup" "0" "01804" "DHFR_000113" "g.79950724_79950732dup" "" "" "" "DHFR(NM_000791.3):c.-409_-401dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046036" "0" "10" "5" "79950727" "79950735" "dup" "0" "02326" "MSH3_000005" "g.79950727_79950735dup" "" "" "" "MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.A61_P63dup), MSH3(NM_002439.5):c.181_189dupGCAGCGCCC (p.Ala61_Pro63dup, p.A61_P63dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046037" "0" "50" "5" "79950735" "79950736" "ins" "0" "01804" "DHFR_000027" "g.79950735_79950736insGCAGCGCCCCCAGCGCCC" "" "" "" "DHFR(NM_000791.3):c.-420_-419insGGGGCGCTGCGGGCGCTG (p.(=)), MSH3(NM_002439.5):c.189_190insGCAGCGCCCCCAGCGCCC (p.P63_P64insAAPPAP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046038" "0" "10" "5" "80024783" "80024783" "subst" "0.00193181" "01804" "DHFR_000040" "g.80024783G>A" "" "" "" "MSH3(NM_002439.4):c.1567G>A (p.(Glu523Lys)), MSH3(NM_002439.5):c.1567G>A (p.E523K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046039" "0" "30" "5" "80057395" "80057395" "subst" "0.000914151" "01804" "DHFR_000082" "g.80057395G>A" "" "" "" "MSH3(NM_002439.4):c.1794G>A (p.(Ser598=)), MSH3(NM_002439.5):c.1794G>A (p.S598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046040" "0" "50" "5" "80063896" "80063896" "subst" "0.000760224" "01804" "DHFR_000045" "g.80063896C>T" "" "" "" "MSH3(NM_002439.4):c.2041C>T (p.P681S, p.(Pro681Ser)), MSH3(NM_002439.5):c.2041C>T (p.P681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046041" "0" "30" "5" "80083459" "80083459" "subst" "0.000633755" "01804" "DHFR_000079" "g.80083459G>A" "" "" "" "MSH3(NM_002439.4):c.2511G>A (p.L837=, p.(Leu837=)), MSH3(NM_002439.5):c.2511G>A (p.L837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052003" "0" "50" "5" "79952308" "79952308" "subst" "0" "01804" "DHFR_000114" "g.79952308C>A" "" "" "" "MSH3(NM_002439.4):c.316C>A (p.(Gln106Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052004" "0" "10" "5" "79960955" "79960955" "subst" "0.24897" "02369" "DHFR_000034" "g.79960955G>A" "" "" "" "MSH3(NM_002439.5):c.359-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052005" "0" "10" "5" "79966178" "79966178" "subst" "0.0408292" "02369" "DHFR_000115" "g.79966178G>A" "" "" "" "MSH3(NM_002439.5):c.792+50G>A (None)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052006" "0" "10" "5" "79968454" "79968454" "subst" "0" "02369" "DHFR_000116" "g.79968454A>G" "" "" "" "MSH3(NM_002439.5):c.910-106A>G (None)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052007" "0" "50" "5" "80024651" "80024651" "subst" "0" "01804" "DHFR_000117" "g.80024651A>G" "" "" "" "MSH3(NM_002439.4):c.1454-19A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052008" "0" "30" "5" "80024719" "80024719" "subst" "7.31505E-5" "02327" "MSH3_000006" "g.80024719C>T" "" "" "" "MSH3(NM_002439.4):c.1503C>T (p.C501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052009" "0" "30" "5" "80083371" "80083371" "subst" "0.000808542" "01804" "DHFR_000047" "g.80083371G>T" "" "" "" "MSH3(NM_002439.4):c.2436-13G>T (p.(=)), MSH3(NM_002439.5):c.2436-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052010" "0" "70" "5" "80083383" "80083383" "subst" "1.62525E-5" "01804" "MSH3_000015" "g.80083383G>A" "" "" "" "MSH3(NM_002439.4):c.2436-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001064348" "0" "30" "5" "79950708" "79950717" "del" "0" "02325" "DHFR_000118" "g.79950708_79950717del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064349" "0" "70" "5" "79970922" "79970922" "dup" "0" "01804" "DHFR_000119" "g.79970922dup" "" "" "" "MSH3(NM_002439.4):c.1148dup (p.(Asn385GlnfsTer19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001064350" "0" "50" "5" "80063896" "80063896" "subst" "0.000760224" "02327" "DHFR_000045" "g.80063896C>T" "" "" "" "MSH3(NM_002439.4):c.2041C>T (p.P681S, p.(Pro681Ser)), MSH3(NM_002439.5):c.2041C>T (p.P681S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MSH3 ## Count = 213 "{{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}}" "0000119943" "00013951" "90" "2319" "-1" "2319" "-1" "c.2319-1G>A" "r.2319_2435del" "p.0?" "16i" "0000119944" "00013951" "90" "2760" "0" "2760" "0" "c.2760del" "r.2760del" "p.Tyr921Metfs*36" "20" "0000119945" "00013951" "90" "1148" "0" "1148" "0" "c.1148del" "r.(?)" "p.(Lys383Argfs*32)" "7" "0000119946" "00013951" "90" "3001" "-2" "3001" "-2" "c.3001-2A>C" "r.3001_3130del" "p.Val1001Argfs*16" "21i" "0000169278" "00013951" "00" "195" "0" "203" "0" "c.195_203del" "" "p.(Pro67_Pro69del)" "" "0000169337" "00013951" "00" "2319" "-1" "2319" "-1" "c.2319-1G>A" "r.spl?" "p.?" "" "0000274990" "00013951" "30" "-16797" "0" "-16797" "0" "c.-16797T>G" "r.(?)" "p.(=)" "" "0000280002" "00013951" "10" "181" "0" "189" "0" "c.181_189dup" "r.(?)" "p.(Ala61_Pro63dup)" "" "0000282609" "00013951" "10" "181" "0" "189" "0" "c.181_189dup" "r.(?)" "p.(Ala61_Pro63dup)" "" "0000292028" "00013951" "30" "1503" "0" "1503" "0" "c.1503C>T" "r.(?)" "p.(Cys501=)" "" "0000292030" "00013951" "10" "195" "0" "203" "0" "c.195_203del" "r.(?)" "p.(Pro67_Pro69del)" "" "0000330445" "00013951" "50" "146" "0" "146" "0" "c.146C>G" "r.(?)" "p.(Pro49Arg)" "" "0000330446" "00013951" "30" "186" "0" "187" "0" "c.186_187insGCCGCAGCGCCCGCAGCG" "r.(?)" "p.(Ala62_Pro63insAlaAlaAlaProAlaAla)" "" "0000330447" "00013951" "50" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "" "0000345873" "00013951" "70" "-299" "0" "-299" "0" "c.-299C>T" "r.(?)" "p.(=)" "" "0000408621" "00013951" "50" "2732" "0" "2732" "0" "c.2732T>G" "r.(?)" "p.(Leu911Trp)" "20" "0000408622" "00013951" "70" "1035" "0" "1035" "0" "c.1035del" "r.(?)" "p.(Leu347*)" "7" "0000484278" "00013951" "50" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "" "0000484280" "00013951" "50" "2732" "0" "2732" "0" "c.2732T>G" "r.(?)" "p.(Leu911Trp)" "" "0000484281" "00013951" "50" "2732" "0" "2732" "0" "c.2732T>G" "r.(?)" "p.(Leu911Trp)" "" "0000526130" "00013951" "30" "-16821" "0" "-16821" "0" "c.-16821T>A" "r.(?)" "p.(=)" "" "0000526131" "00013951" "50" "-16815" "0" "-16815" "0" "c.-16815del" "r.(?)" "p.(=)" "" "0000526133" "00013951" "30" "-5274" "0" "-5274" "0" "c.-5274G>A" "r.(?)" "p.(=)" "" "0000526134" "00013951" "30" "-320" "0" "-320" "0" "c.-320G>C" "r.(?)" "p.(=)" "" "0000526135" "00013951" "10" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Ala7=)" "" "0000526136" "00013951" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Ala7=)" "" "0000526137" "00013951" "30" "143" "0" "143" "0" "c.143A>C" "r.(?)" "p.(Asp48Ala)" "" "0000526138" "00013951" "30" "162" "0" "162" "0" "c.162T>C" "r.(?)" "p.(Ala54=)" "" "0000526139" "00013951" "30" "162" "0" "170" "0" "c.162_170dup" "r.(?)" "p.(Ala60_Ala62dup)" "" "0000526140" "00013951" "10" "162" "0" "179" "0" "c.162_179del" "r.(?)" "p.(Ala57_Ala62del)" "" "0000526141" "00013951" "10" "162" "0" "179" "0" "c.162_179del" "r.(?)" "p.(Ala57_Ala62del)" "" "0000526142" "00013951" "10" "178" "0" "178" "0" "c.178G>C" "r.(?)" "p.(Ala60Pro)" "" "0000526143" "00013951" "10" "178" "0" "186" "0" "c.178_186del" "r.(?)" "p.(Ala60_Ala62del)" "" "0000526144" "00013951" "10" "178" "0" "186" "0" "c.178_186del" "r.(?)" "p.(Ala60_Ala62del)" "" "0000526148" "00013951" "30" "182" "0" "183" "0" "c.182_183insGCCCCCAGCGCCCCC" "r.(?)" "p.(Ala61_Ala62insProProAlaProPro)" "" "0000526149" "00013951" "10" "186" "0" "187" "0" "c.186_187insGCCGCAGCGCCCGCAGCG" "r.(?)" "p.(Ala62_Pro63insAlaAlaAlaProAlaAla)" "" "0000526150" "00013951" "10" "186" "0" "187" "0" "c.186_187insGCCGCAGCGCCCGCAGCG" "r.(?)" "p.(Ala62_Pro63insAlaAlaAlaProAlaAla)" "" "0000526151" "00013951" "10" "189" "0" "190" "0" "c.189_190insGCAGCGCCCCCAGCGCCC" "r.(?)" "p.(Pro63_Pro64insAlaAlaProProAlaPro)" "" "0000526153" "00013951" "10" "195" "0" "203" "0" "c.195_203del" "r.(?)" "p.(Pro67_Pro69del)" "" "0000526154" "00013951" "10" "195" "0" "203" "0" "c.195_203dup" "r.(?)" "p.(Pro67_Pro69dup)" "" "0000526155" "00013951" "10" "199" "0" "207" "0" "c.199_207del" "r.(?)" "p.(Pro67_Pro69del)" "" "0000526156" "00013951" "10" "203" "0" "204" "0" "c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC" "r.(?)" "p.(Pro69_Ala70insProAlaProProAlaProProAlaPro)" "" "0000526157" "00013951" "10" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Ile79Val)" "" "0000526158" "00013951" "50" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Pro96Leu)" "" "0000526159" "00013951" "10" "359" "-7" "359" "-7" "c.359-7G>A" "r.(=)" "p.(=)" "" "0000526160" "00013951" "10" "693" "0" "693" "0" "c.693G>A" "r.(?)" "p.(Pro231=)" "" "0000526161" "00013951" "30" "792" "8" "792" "8" "c.792+8G>A" "r.(=)" "p.(=)" "" "0000526162" "00013951" "30" "1174" "-20" "1174" "-20" "c.1174-20A>G" "r.(=)" "p.(=)" "" "0000526163" "00013951" "30" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "" "0000526164" "00013951" "50" "1396" "0" "1396" "0" "c.1396A>G" "r.(?)" "p.(Ser466Gly)" "" "0000526165" "00013951" "90" "1473" "0" "1473" "0" "c.1473dup" "r.(?)" "p.(Ile492HisfsTer3)" "" "0000526166" "00013951" "10" "1567" "0" "1567" "0" "c.1567G>A" "r.(?)" "p.(Glu523Lys)" "" "0000526167" "00013951" "10" "1571" "0" "1571" "0" "c.1571A>C" "r.(?)" "p.(Asn524Thr)" "" "0000526168" "00013951" "30" "1655" "0" "1655" "0" "c.1655C>T" "r.(?)" "p.(Thr552Ile)" "" "0000526169" "00013951" "30" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Ser606Asn)" "" "0000526170" "00013951" "10" "1897" "-8" "1897" "-8" "c.1897-8A>G" "r.(=)" "p.(=)" "" "0000526171" "00013951" "30" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Pro681Ser)" "" "0000526172" "00013951" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Pro681Ser)" "" "0000526173" "00013951" "30" "2254" "-19" "2254" "-19" "c.2254-19T>G" "r.(=)" "p.(=)" "" "0000526174" "00013951" "90" "2319" "-1" "2319" "-1" "c.2319-1G>A" "r.spl?" "p.?" "" "0000526175" "00013951" "30" "2436" "-13" "2436" "-13" "c.2436-13G>T" "r.(=)" "p.(=)" "" "0000526176" "00013951" "30" "2628" "0" "2628" "0" "c.2628A>G" "r.(?)" "p.(Gln876=)" "" "0000526177" "00013951" "30" "2685" "0" "2685" "0" "c.2685C>T" "r.(?)" "p.(Thr895=)" "" "0000526178" "00013951" "30" "2732" "0" "2732" "0" "c.2732T>G" "r.(?)" "p.(Leu911Trp)" "" "0000526179" "00013951" "30" "2732" "0" "2732" "0" "c.2732T>G" "r.(?)" "p.(Leu911Trp)" "" "0000526180" "00013951" "10" "2846" "0" "2846" "0" "c.2846A>G" "r.(?)" "p.(Gln949Arg)" "" "0000526181" "00013951" "10" "3133" "0" "3133" "0" "c.3133G>A" "r.(?)" "p.(Ala1045Thr)" "" "0000526182" "00013951" "30" "3282" "0" "3282" "0" "c.3282A>G" "r.(?)" "p.(Glu1094=)" "" "0000526183" "00013951" "30" "3364" "0" "3364" "0" "c.3364T>C" "r.(?)" "p.(Trp1122Arg)" "" "0000597244" "00013951" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Pro681Ser)" "" "0000598534" "00013951" "70" "2436" "-1" "2436" "-1" "c.2436-1G>A" "r.(?)" "p.(?)" "" "0000609802" "00013951" "30" "162" "0" "170" "0" "c.162_170del" "r.(?)" "p.(Ala60_Ala62del)" "" "0000609803" "00013951" "70" "237" "1" "237" "1" "c.237+1G>C" "r.spl?" "p.?" "" "0000609804" "00013951" "30" "291" "0" "291" "0" "c.291T>G" "r.(?)" "p.(Val97=)" "" "0000609805" "00013951" "30" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "0000609806" "00013951" "30" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Arg224Trp)" "" "0000609807" "00013951" "30" "792" "7" "792" "7" "c.792+7C>T" "r.(=)" "p.(=)" "" "0000609808" "00013951" "30" "792" "8" "792" "8" "c.792+8G>A" "r.(=)" "p.(=)" "" "0000609809" "00013951" "50" "1019" "0" "1019" "0" "c.1019T>C" "r.(?)" "p.(Ile340Thr)" "" "0000621592" "00013951" "30" "1453" "15" "1453" "15" "c.1453+15T>C" "r.(=)" "p.(=)" "" "0000621593" "00013951" "30" "1523" "0" "1523" "0" "c.1523A>G" "r.(?)" "p.(Lys508Arg)" "" "0000621594" "00013951" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Pro681Ser)" "" "0000655415" "00013951" "30" "129" "0" "129" "0" "c.129A>G" "r.(?)" "p.(Ala43=)" "" "0000655416" "00013951" "10" "186" "0" "203" "0" "c.186_203dup" "r.(?)" "p.(Pro64_Pro69dup)" "" "0000655417" "00013951" "10" "195" "0" "203" "0" "c.195_203dup" "r.(?)" "p.(Pro67_Pro69dup)" "" "0000655418" "00013951" "90" "579" "1" "579" "1" "c.579+1G>C" "r.spl?" "p.?" "" "0000655419" "00013951" "30" "2732" "0" "2732" "0" "c.2732T>G" "r.(?)" "p.(Leu911Trp)" "" "0000659575" "00013951" "50" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "" "0000677553" "00013951" "10" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ala58Val)" "" "0000677554" "00013951" "10" "186" "0" "203" "0" "c.186_203dup" "r.(?)" "p.(Pro64_Pro69dup)" "" "0000689552" "00013951" "30" "-20807" "0" "-20807" "0" "c.-20807C>T" "r.(?)" "p.(=)" "" "0000689553" "00013951" "30" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Gln664=)" "" "0000689554" "00013951" "30" "2438" "0" "2438" "0" "c.2438A>G" "r.(?)" "p.(Lys813Arg)" "" "0000689555" "00013951" "30" "3000" "0" "3000" "0" "c.3000T>G" "r.(?)" "p.(Asp1000Glu)" "" "0000711047" "00013951" "50" "230" "0" "232" "0" "c.230_232dup" "r.(?)" "p.(Pro77dup)" "1" "0000720508" "00013951" "30" "-674" "0" "-674" "0" "c.-674A>C" "r.(?)" "p.(=)" "" "0000720509" "00013951" "10" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Ala7=)" "" "0000720510" "00013951" "10" "186" "0" "187" "0" "c.186_187insGCCGCAGCGCCCGCAGCG" "r.(?)" "p.(Ala62_Pro63insAlaAlaAlaProAlaAla)" "" "0000720511" "00013951" "30" "189" "0" "190" "0" "c.189_190insGCAGCGCCCGCAGCGCCC" "r.(?)" "p.(Pro63_Pro64insAlaAlaProAlaAlaPro)" "" "0000720512" "00013951" "30" "2732" "0" "2732" "0" "c.2732T>G" "r.(?)" "p.(Leu911Trp)" "" "0000720513" "00013951" "50" "2818" "0" "2818" "0" "c.2818G>T" "r.(?)" "p.(Gly940Cys)" "" "0000802185" "00013951" "30" "-25572" "0" "-25572" "0" "c.-25572A>C" "r.(?)" "p.(=)" "" "0000802186" "00013951" "30" "162" "0" "162" "0" "c.162T>C" "r.(?)" "p.(Ala54=)" "" "0000802187" "00013951" "30" "178" "0" "186" "0" "c.178_186del" "r.(?)" "p.(Ala60_Ala62del)" "" "0000802188" "00013951" "10" "181" "0" "189" "0" "c.181_189dup" "r.(?)" "p.(Ala61_Pro63dup)" "" "0000802189" "00013951" "10" "186" "0" "187" "0" "c.186_187insGCCGCAGCGCCCGCAGCG" "r.(?)" "p.(Ala62_Pro63insAlaAlaAlaProAlaAla)" "" "0000802190" "00013951" "50" "186" "0" "203" "0" "c.186_203dup" "r.(?)" "p.(Pro64_Pro69dup)" "" "0000802191" "00013951" "50" "1435" "0" "1435" "0" "c.1435G>T" "r.(?)" "p.(Asp479Tyr)" "" "0000802192" "00013951" "10" "1454" "-62" "1454" "-62" "c.1454-62A>G" "r.(=)" "p.(=)" "" "0000802193" "00013951" "30" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Gln664=)" "" "0000802194" "00013951" "50" "2390" "0" "2390" "0" "c.2390A>G" "r.(?)" "p.(Glu797Gly)" "" "0000802195" "00013951" "50" "2511" "0" "2511" "0" "c.2511G>A" "r.(?)" "p.(Leu837=)" "" "0000850969" "00013951" "10" "181" "0" "189" "0" "c.181_189dup" "r.(?)" "p.(Ala61_Pro63dup)" "" "0000850970" "00013951" "10" "195" "0" "203" "0" "c.195_203del" "r.(?)" "p.(Pro67_Pro69del)" "" "0000850971" "00013951" "10" "195" "0" "203" "0" "c.195_203dup" "r.(?)" "p.(Pro67_Pro69dup)" "" "0000850972" "00013951" "30" "1896" "18" "1896" "18" "c.1896+18C>T" "r.(=)" "p.(=)" "" "0000860008" "00013951" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Ala7=)" "" "0000860009" "00013951" "30" "178" "0" "178" "0" "c.178G>C" "r.(?)" "p.(Ala60Pro)" "" "0000860010" "00013951" "10" "1764" "-9" "1764" "-8" "c.1764-9_1764-8del" "r.(=)" "p.(=)" "" "0000860011" "00013951" "50" "2732" "0" "2732" "0" "c.2732T>G" "r.(?)" "p.(Leu911Trp)" "" "0000886916" "00013951" "30" "-20807" "0" "-20807" "0" "c.-20807C>T" "r.(?)" "p.(=)" "" "0000886917" "00013951" "30" "162" "0" "162" "0" "c.162T>C" "r.(?)" "p.(Ala54=)" "" "0000886918" "00013951" "30" "189" "0" "190" "0" "c.189_190insGCAGCGCCCGCAGCGCCC" "r.(?)" "p.(Pro63_Pro64insAlaAlaProAlaAlaPro)" "" "0000886919" "00013951" "30" "1794" "0" "1794" "0" "c.1794G>A" "r.(?)" "p.(Ser598=)" "" "0000886920" "00013951" "30" "2655" "0" "2655" "0" "c.2655A>G" "r.(?)" "p.(Ser885=)" "" "0000886921" "00013951" "50" "2992" "0" "2992" "0" "c.2992A>G" "r.(?)" "p.(Ile998Val)" "" "0000912365" "00013951" "10" "162" "0" "179" "0" "c.162_179del" "r.(?)" "p.(Ala57_Ala62del)" "" "0000912366" "00013951" "90" "579" "1" "579" "1" "c.579+1G>A" "r.spl?" "p.?" "" "0000924380" "00013951" "30" "162" "0" "179" "0" "c.162_179del" "r.(?)" "p.(Ala57_Ala62del)" "" "0000924381" "00013951" "90" "237" "1" "237" "1" "c.237+1G>C" "r.spl?" "p.?" "" "0000924382" "00013951" "30" "792" "7" "792" "7" "c.792+7C>T" "r.(=)" "p.(=)" "" "0000924383" "00013951" "10" "1794" "0" "1794" "0" "c.1794G>A" "r.(?)" "p.(Ser598=)" "" "0000924384" "00013951" "50" "2254" "-19" "2254" "-19" "c.2254-19T>G" "r.(=)" "p.(=)" "" "0000929102" "00013951" "10" "178" "0" "186" "0" "c.178_186del" "r.(?)" "p.(Ala60_Ala62del)" "" "0000929103" "00013951" "50" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Val448Glu)" "" "0000929104" "00013951" "50" "1361" "0" "1361" "0" "c.1361G>A" "r.(?)" "p.(Arg454Gln)" "" "0000929105" "00013951" "50" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "" "0000929106" "00013951" "10" "1567" "0" "1567" "0" "c.1567G>A" "r.(?)" "p.(Glu523Lys)" "" "0000929107" "00013951" "10" "1897" "-8" "1897" "-8" "c.1897-8A>G" "r.(=)" "p.(=)" "" "0000929108" "00013951" "50" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "" "0000929109" "00013951" "30" "2511" "0" "2511" "0" "c.2511G>A" "r.(?)" "p.(Leu837=)" "" "0000948578" "00013951" "10" "162" "0" "179" "0" "c.162_179del" "r.(?)" "p.(Ala57_Ala62del)" "" "0000948579" "00013951" "10" "195" "0" "203" "0" "c.195_203dup" "r.(?)" "p.(Pro67_Pro69dup)" "" "0000948580" "00013951" "50" "203" "0" "204" "0" "c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGC" "r.(?)" "p.(Pro69_Ala70insProAlaProProAlaProProAlaProProAlaPro)" "" "0000948581" "00013951" "30" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Pro69Ser)" "" "0000948582" "00013951" "10" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Ile79Val)" "" "0000948583" "00013951" "70" "237" "1" "237" "1" "c.237+1G>C" "r.spl?" "p.?" "" "0000948584" "00013951" "50" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "" "0000948585" "00013951" "30" "1567" "0" "1567" "0" "c.1567G>A" "r.(?)" "p.(Glu523Lys)" "" "0000963690" "00013951" "30" "162" "0" "170" "0" "c.162_170del" "r.(?)" "p.(Ala60_Ala62del)" "" "0000963691" "00013951" "10" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Ala61Pro)" "" "0000963692" "00013951" "30" "186" "0" "203" "0" "c.186_203dup" "r.(?)" "p.(Pro64_Pro69dup)" "" "0000963693" "00013951" "30" "190" "0" "190" "0" "c.190C>G" "r.(?)" "p.(Pro64Ala)" "" "0000963694" "00013951" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Pro66Ser)" "" "0000963695" "00013951" "30" "204" "0" "204" "0" "c.204T>G" "r.(?)" "p.(=)" "" "0000963696" "00013951" "50" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "" "0000963697" "00013951" "10" "1897" "-8" "1897" "-8" "c.1897-8A>G" "r.(=)" "p.(=)" "" "0000963698" "00013951" "30" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Pro681Ser)" "" "0000963699" "00013951" "50" "2708" "0" "2708" "0" "c.2708G>T" "r.(?)" "p.(Ser903Ile)" "" "0000963700" "00013951" "50" "3131" "-17" "3131" "-17" "c.3131-17C>T" "r.(=)" "p.(=)" "" "0000976861" "00013951" "30" "162" "0" "162" "0" "c.162T>C" "r.(?)" "p.(Ala54=)" "" "0000976862" "00013951" "10" "178" "0" "178" "0" "c.178G>C" "r.(?)" "p.(Ala60Pro)" "" "0000976863" "00013951" "30" "178" "0" "186" "0" "c.178_186del" "r.(?)" "p.(Ala60_Ala62del)" "" "0000976864" "00013951" "30" "1453" "15" "1453" "15" "c.1453+15T>C" "r.(=)" "p.(=)" "" "0000976865" "00013951" "30" "1794" "0" "1794" "0" "c.1794G>A" "r.(?)" "p.(Ser598=)" "" "0000976866" "00013951" "70" "2060" "0" "2060" "0" "c.2060dup" "r.(?)" "p.(Ile688Aspfs*4)" "" "0000976867" "00013951" "10" "2254" "-19" "2254" "-19" "c.2254-19T>G" "r.(=)" "p.(=)" "" "0000976868" "00013951" "50" "2281" "0" "2281" "0" "c.2281G>T" "r.(?)" "p.(Val761Leu)" "" "0000995179" "00013951" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Gln46*)" "" "0000995180" "00013951" "50" "191" "0" "191" "0" "c.191dup" "r.(?)" "p.(Ala65Serfs*20)" "" "0000995181" "00013951" "70" "1148" "0" "1148" "0" "c.1148del" "r.(?)" "p.(Lys383Argfs*32)" "" "0000995182" "00013951" "50" "1174" "-12" "1174" "-12" "c.1174-12A>G" "r.(=)" "p.(=)" "" "0000995183" "00013951" "50" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(=)" "" "0000995184" "00013951" "30" "1764" "-9" "1764" "-8" "c.1764-9_1764-8del" "r.(=)" "p.(=)" "" "0000995185" "00013951" "30" "2685" "0" "2685" "0" "c.2685C>T" "r.(?)" "p.(Thr895=)" "" "0000995186" "00013951" "30" "3234" "0" "3234" "0" "c.3234T>C" "r.(?)" "p.(=)" "" "0001014145" "00013951" "30" "-115" "0" "-115" "0" "c.-115G>C" "r.(?)" "p.(=)" "" "0001016684" "00013951" "90" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Ter)" "" "0001025128" "00013951" "50" "-109" "0" "-109" "0" "c.-109G>A" "r.(?)" "p.(=)" "" "0001025129" "00013951" "30" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Ala61Pro)" "" "0001025130" "00013951" "50" "189" "0" "190" "0" "c.189_190insGCAGCGCCCGCAGCGCCC" "r.(?)" "p.(Pro63_Pro64insAlaAlaProAlaAlaPro)" "" "0001025131" "00013951" "10" "203" "0" "204" "0" "c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC" "r.(?)" "p.(Pro69_Ala70insProAlaProProAlaProProAlaPro)" "" "0001025132" "00013951" "50" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "" "0001025133" "00013951" "10" "237" "247" "237" "247" "c.237+247G>A" "r.(=)" "p.(=)" "" "0001025134" "00013951" "10" "237" "249" "237" "249" "c.237+249A>G" "r.(=)" "p.(=)" "" "0001025135" "00013951" "50" "1523" "0" "1523" "0" "c.1523A>G" "r.(?)" "p.(Lys508Arg)" "" "0001025136" "00013951" "30" "1571" "0" "1571" "0" "c.1571A>C" "r.(?)" "p.(Asn524Thr)" "" "0001025137" "00013951" "30" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Pro681Ser)" "" "0001025138" "00013951" "30" "2319" "-25" "2319" "-25" "c.2319-25A>G" "r.(=)" "p.(=)" "" "0001025139" "00013951" "50" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Asp809Asn)" "" "0001035325" "00013951" "30" "162" "0" "162" "0" "c.162T>C" "r.(?)" "p.(Ala54=)" "" "0001035326" "00013951" "10" "203" "0" "204" "0" "c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC" "r.(?)" "p.(Pro69_Ala70insProAlaProProAlaProProAlaPro)" "" "0001035327" "00013951" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(=)" "" "0001035328" "00013951" "10" "1897" "-8" "1897" "-8" "c.1897-8A>G" "r.(=)" "p.(=)" "" "0001035329" "00013951" "50" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727Gln)" "" "0001046035" "00013951" "50" "178" "0" "186" "0" "c.178_186dup" "r.(?)" "p.(Ala60_Ala62dup)" "" "0001046036" "00013951" "10" "181" "0" "189" "0" "c.181_189dup" "r.(?)" "p.(Ala61_Pro63dup)" "" "0001046037" "00013951" "50" "189" "0" "190" "0" "c.189_190insGCAGCGCCCCCAGCGCCC" "r.(?)" "p.(Pro63_Pro64insAlaAlaProProAlaPro)" "" "0001046038" "00013951" "10" "1567" "0" "1567" "0" "c.1567G>A" "r.(?)" "p.(Glu523Lys)" "" "0001046039" "00013951" "30" "1794" "0" "1794" "0" "c.1794G>A" "r.(?)" "p.(Ser598=)" "" "0001046040" "00013951" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Pro681Ser)" "" "0001046041" "00013951" "30" "2511" "0" "2511" "0" "c.2511G>A" "r.(?)" "p.(Leu837=)" "" "0001052003" "00013951" "50" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Gln106Lys)" "" "0001052004" "00013951" "10" "359" "-7" "359" "-7" "c.359-7G>A" "r.(=)" "p.(=)" "" "0001052005" "00013951" "10" "792" "50" "792" "50" "c.792+50G>A" "r.(=)" "p.(=)" "" "0001052006" "00013951" "10" "910" "-106" "910" "-106" "c.910-106A>G" "r.(=)" "p.(=)" "" "0001052007" "00013951" "50" "1454" "-19" "1454" "-19" "c.1454-19A>G" "r.(=)" "p.(=)" "" "0001052008" "00013951" "30" "1503" "0" "1503" "0" "c.1503C>T" "r.(?)" "p.(Cys501=)" "" "0001052009" "00013951" "30" "2436" "-13" "2436" "-13" "c.2436-13G>T" "r.(=)" "p.(=)" "" "0001052010" "00013951" "70" "2436" "-1" "2436" "-1" "c.2436-1G>A" "r.spl?" "p.?" "" "0001064348" "00013951" "30" "162" "0" "171" "0" "c.162_171del" "r.(?)" "p.(Ala55Glnfs*22)" "" "0001064349" "00013951" "70" "1148" "0" "1148" "0" "c.1148dup" "r.(?)" "p.(Asn385Glnfs*19)" "" "0001064350" "00013951" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Pro681Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000074845" "0000119943" "0000074845" "0000119944" "0000074846" "0000119945" "0000074846" "0000119946" "0000104469" "0000169278" "0000104482" "0000169337" "0000184506" "0000408621" "0000184507" "0000408622" "0000240252" "0000484278" "0000240254" "0000484280" "0000240255" "0000484281" "0000266545" "0000597244" "0000267475" "0000598534" "0000296923" "0000659575" "0000327339" "0000711047" "0000458987" "0001016684"