### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PMS1) # 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}}" "PMS1" "PMS1 postmeiotic segregation increased 1 (S. cerevisiae)" "2" "q31-q33" "unknown" "NG_008648.1" "UD_132118367746" "" "http://www.LOVD.nl/PMS1" "MMRUV Groningen " "1" "9121" "5378" "600258" "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/PMS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-07-01 00:00:00" "00006" "2016-01-18 06:46:44" "00000" "2020-09-15 15:50:26" ## 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}}" "00016416" "PMS1" "transcript variant 1" "001" "NM_000534.4" "" "NP_000525.1" "" "" "" "-529" "2992" "2799" "190648811" "190742355" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00513" "HNPCC1" "cancer, colorectal, nonpolyposis, hereditary, type 1" "AD" "120435" "" "" "" "00006" "2014-08-22 11:31:54" "00006" "2025-07-24 09:01:26" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 47 "{{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}}" "00057225" "" "" "" "2" "" "00006" "{PMID:Liu 2001:11691795}, {PMID:Nicolaides 1994:8072530}, {DOI:Nicolaides 1994:10.1038/371075a0}" "4-generation family, 8 affecteds colon cancer, 10 affecteds with other cancers" "F" "" "" "" "0" "" "" "" "" "00057226" "" "" "00057225" "1" "" "00006" "{PMID:Liu 2001:11691795}" "nephew of CW (III4)" "M" "" "" "" "0" "" "" "" "" "00090678" "" "" "" "3" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090679" "" "" "" "3" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090680" "" "" "" "6" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090681" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090682" "" "" "" "4" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090683" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090684" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090685" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090686" "" "" "" "15" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090687" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090688" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090689" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090690" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090691" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090692" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090693" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090694" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090695" "" "" "" "5" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090696" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090697" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090698" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090699" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090700" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090701" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090702" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090703" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090704" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090705" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090706" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090707" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090708" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090709" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090710" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090711" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090886" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090887" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090888" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090889" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090890" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00103993" "" "" "" "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-036A" "00103997" "" "" "" "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-059B" "00155635" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00292519" "" "" "" "96" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295909" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00304767" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 47 "{{individualid}}" "{{diseaseid}}" "00057225" "00513" "00057226" "00513" "00090678" "00091" "00090679" "00000" "00090680" "00091" "00090681" "00000" "00090682" "00091" "00090683" "00091" "00090684" "00091" "00090685" "00000" "00090686" "00091" "00090687" "00091" "00090688" "00091" "00090689" "00091" "00090690" "00091" "00090691" "00091" "00090692" "00091" "00090693" "00091" "00090694" "00091" "00090695" "00091" "00090696" "00091" "00090697" "00091" "00090698" "00091" "00090699" "00091" "00090700" "00091" "00090701" "00091" "00090702" "00091" "00090703" "00091" "00090704" "00091" "00090705" "00091" "00090706" "00091" "00090707" "00091" "00090708" "00091" "00090709" "00000" "00090710" "00000" "00090711" "00091" "00090886" "00091" "00090887" "00091" "00090888" "00091" "00090889" "00091" "00090890" "00091" "00103993" "03381" "00103997" "03381" "00155635" "00198" "00292519" "00198" "00295909" "00198" "00304767" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00513, 03381 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/IHC}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000043905" "00513" "00057225" "00006" "Familial" "" "HNPCC3, ovarian cancer 43y, colon cancer 51y, endometrial cancer 65y; family history A+" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043906" "00513" "00057226" "00006" "Familial" "" "colorectal cancer 42y" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081927" "03381" "00103993" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081931" "03381" "00103997" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223385" "00198" "00295909" "01164" "Unknown" "" "Neoplasm of the large intestine (HP:0100834); Abnormality of the gastrointestinal tract (HP:0011024)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000057186" "00057225" "1" "00006" "00006" "2008-09-04 23:22:55" "00006" "2016-01-18 06:42:16" "PTT;RT-PCR;SEQ" "DNA;RNA" "" "" "0000057187" "00057225" "1" "00006" "00006" "2015-12-11 05:30:57" "" "" "Southern" "DNA" "" "" "0000057188" "00057226" "1" "00006" "00006" "2015-12-11 05:30:57" "" "" "Southern" "DNA" "" "" "0000090823" "00090678" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090824" "00090679" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090825" "00090680" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090826" "00090681" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090827" "00090682" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090828" "00090683" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090829" "00090684" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090830" "00090685" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090831" "00090686" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090832" "00090687" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090833" "00090688" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090834" "00090689" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090835" "00090690" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090836" "00090691" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090837" "00090692" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090838" "00090693" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090839" "00090694" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090840" "00090695" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090841" "00090696" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090842" "00090697" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090843" "00090698" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090844" "00090699" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090845" "00090700" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090846" "00090701" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090847" "00090702" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090848" "00090703" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090849" "00090704" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090850" "00090705" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090851" "00090706" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090852" "00090707" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090853" "00090708" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090854" "00090709" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090855" "00090710" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090856" "00090711" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091031" "00090886" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091032" "00090887" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091033" "00090888" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091034" "00090889" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091035" "00090890" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000104464" "00103993" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104468" "00103997" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000156500" "00155635" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000293687" "00292519" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297081" "00295909" "1" "01164" "01164" "2020-03-30 10:43:45" "" "" "SEQ-NG-S" "DNA" "" "" "0000305896" "00304767" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000057186" "PMS1" "0000057187" "MSH2" "0000057188" "MSH2" "0000090823" "PMS1" "0000090824" "PMS1" "0000090825" "PMS1" "0000090826" "PMS1" "0000090827" "PMS1" "0000090828" "PMS1" "0000090829" "PMS1" "0000090830" "PMS1" "0000090831" "PMS1" "0000090832" "PMS1" "0000090833" "PMS1" "0000090834" "PMS1" "0000090835" "PMS1" "0000090836" "PMS1" "0000090837" "PMS1" "0000090838" "PMS1" "0000090839" "PMS1" "0000090840" "PMS1" "0000090841" "PMS1" "0000090842" "PMS1" "0000090843" "PMS1" "0000090844" "PMS1" "0000090845" "PMS1" "0000090846" "PMS1" "0000090847" "PMS1" "0000090848" "PMS1" "0000090849" "PMS1" "0000090850" "PMS1" "0000090851" "PMS1" "0000090852" "PMS1" "0000090853" "PMS1" "0000090854" "PMS1" "0000090855" "PMS1" "0000090856" "PMS1" "0000091031" "PMS1" "0000091032" "PMS1" "0000091033" "PMS1" "0000091034" "PMS1" "0000091035" "PMS1" ## 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 = 49 "{{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}}" "0000087474" "1" "55" "2" "190708804" "190708804" "subst" "4.07093E-5" "00006" "PMS1_000001" "g.190708804C>T" "1/40 cases" "{PMID:Liu 2001:11691795}, {PMID:Nicolaides 1994:08072530}, {DOI:Nicolaides 1994:10.1038/371075a0}, {OMIM600258:0001}" "" "" "variant originally classified as disease-associated (Nicolaides 1994), but subsequently analysis revealed a disease-causing variant in MSH2 (Liu 2001), a role for the variant in lung cancer was not excluded" "Germline" "" "" "0" "" "" "g.189844078C>T" "" "VUS" "" "0000087477" "20" "99" "2" "47630263" "47657081" "" "0" "00006" "PMS1_000036" "g.(?_47630263)_(47657081_47672686)del" "" "{PMID:Liu 2001:11691795}, {OMIM600258:0001}" "" "ex 1-7 del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000087478" "20" "99" "2" "47630263" "47657081" "" "0" "00006" "PMS1_000036" "g.(?_47630263)_(47657081_47672686)del" "" "{PMID:Liu 2001:11691795}, {OMIM600258:0001}" "" "ex 1-7 del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000148952" "1" "50" "2" "190656614" "190656614" "subst" "8.12315E-5" "01816" "PMS1_000032" "g.190656614G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189791888G>C" "" "VUS" "" "0000148953" "1" "50" "2" "190660537" "190660537" "subst" "0.00274973" "01816" "PMS1_000031" "g.190660537G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189795811G>A" "" "VUS" "" "0000148954" "1" "50" "2" "190660537" "190660537" "subst" "0.00274973" "01816" "PMS1_000031" "g.190660537G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189795811G>A" "" "VUS" "" "0000148955" "1" "50" "2" "190660586" "190660586" "subst" "0.000621471" "01816" "PMS1_000030" "g.190660586C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189795860C>T" "" "VUS" "" "0000148956" "1" "50" "2" "190660586" "190660586" "subst" "0.000621471" "01816" "PMS1_000030" "g.190660586C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189795860C>T" "" "VUS" "" "0000148957" "1" "50" "2" "190670463" "190670463" "subst" "4.47191E-5" "01816" "PMS1_000029" "g.190670463C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189805737C>T" "" "VUS" "" "0000148958" "1" "50" "2" "190682803" "190682803" "subst" "1.63862E-5" "01816" "PMS1_000012" "g.190682803C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189818077C>T" "" "VUS" "" "0000148959" "1" "50" "2" "190708712" "190708712" "subst" "0.0113729" "01816" "PMS1_000013" "g.190708712G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189843986G>A" "" "VUS" "" "0000148960" "1" "50" "2" "190708712" "190708712" "subst" "0.0113729" "01816" "PMS1_000013" "g.190708712G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189843986G>A" "" "VUS" "" "0000148961" "1" "50" "2" "190708715" "190708715" "subst" "8.13001E-6" "01816" "PMS1_000014" "g.190708715T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189843989T>C" "" "VUS" "" "0000148962" "1" "90" "2" "190718671" "190718671" "subst" "3.32743E-5" "01816" "PMS1_000015" "g.190718671C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189853945C>T" "" "pathogenic" "" "0000148963" "1" "50" "2" "190718983" "190718983" "subst" "1.70678E-5" "01816" "PMS1_000016" "g.190718983C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854257C>G" "" "VUS" "" "0000148964" "1" "50" "2" "190718999" "190718999" "subst" "0.000770027" "01816" "PMS1_000017" "g.190718999C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854273C>T" "" "VUS" "" "0000148965" "1" "50" "2" "190719179" "190719179" "subst" "0.00383369" "01816" "PMS1_000018" "g.190719179T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854453T>C" "" "VUS" "" "0000148966" "1" "50" "2" "190719304" "190719304" "subst" "0" "01816" "PMS1_000019" "g.190719304T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854578T>C" "" "VUS" "" "0000148967" "1" "50" "2" "190719499" "190719499" "subst" "0.0038057" "01816" "PMS1_000020" "g.190719499G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854773G>A" "" "VUS" "" "0000148968" "1" "50" "2" "190719584" "190719584" "subst" "0.000285621" "01816" "PMS1_000021" "g.190719584G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854858G>A" "" "VUS" "" "0000148969" "1" "50" "2" "190719607" "190719607" "subst" "0.00221499" "01816" "PMS1_000022" "g.190719607G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854881G>A" "" "VUS" "" "0000148970" "1" "50" "2" "190719641" "190719641" "subst" "0.00118326" "01816" "PMS1_000023" "g.190719641A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854915A>G" "" "VUS" "" "0000148971" "1" "90" "2" "190719676" "190719676" "del" "1.63038E-5" "01816" "PMS1_000024" "g.190719676del" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854950del" "" "pathogenic" "" "0000148972" "1" "50" "2" "190719704" "190719704" "subst" "8.54603E-5" "01816" "PMS1_000025" "g.190719704G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854978G>A" "" "VUS" "" "0000148973" "1" "50" "2" "190719742" "190719742" "subst" "6.10739E-5" "01816" "PMS1_000026" "g.190719742G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189855016G>A" "" "VUS" "" "0000148974" "1" "50" "2" "190728507" "190728507" "subst" "0.000411647" "01816" "PMS1_000027" "g.190728507A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189863781A>G" "" "VUS" "" "0000148975" "1" "50" "2" "190728599" "190728599" "subst" "0" "01816" "PMS1_000028" "g.190728599G>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189863873G>T" "" "VUS" "" "0000148976" "1" "50" "2" "190728676" "190728676" "" "0" "01816" "PMS1_000010" "g.190728676delAAG" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.189863950delAAG" "" "VUS" "" "0000148977" "1" "50" "2" "190728779" "190728779" "subst" "0.00014643" "01816" "PMS1_000011" "g.190728779G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189864053G>A" "" "VUS" "" "0000148978" "1" "90" "2" "190728838" "190728838" "del" "1.21952E-5" "01816" "PMS1_000002" "g.190728838del" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189864112del" "" "pathogenic" "" "0000148979" "1" "50" "2" "190728923" "190728923" "subst" "0.000101662" "01816" "PMS1_000003" "g.190728923C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189864197C>A" "" "VUS" "" "0000148980" "1" "50" "2" "190732559" "190732559" "subst" "0.00380853" "01816" "PMS1_000004" "g.190732559T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189867833T>C" "" "VUS" "" "0000148981" "1" "50" "2" "190732599" "190732599" "subst" "0.00185432" "01816" "PMS1_000005" "g.190732599C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189867873C>G" "" "VUS" "" "0000148982" "1" "50" "2" "190732626" "190732626" "subst" "0.000109748" "01816" "PMS1_000006" "g.190732626C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189867900C>T" "" "VUS" "" "0000148983" "1" "50" "2" "190738288" "190738288" "subst" "9.75681E-5" "01816" "PMS1_000007" "g.190738288T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189873562T>C" "" "VUS" "" "0000148984" "1" "50" "2" "190742118" "190742118" "subst" "0.000304846" "01816" "PMS1_000008" "g.190742118C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189877392C>T" "" "VUS" "" "0000148985" "1" "50" "2" "190742143" "190742143" "subst" "0.000158645" "01816" "PMS1_000009" "g.190742143A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189877417A>G" "" "VUS" "" "0000149160" "3" "50" "2" "190719179" "190719179" "subst" "0.00383369" "01816" "PMS1_000018" "g.190719179T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854453T>C" "" "VUS" "" "0000149161" "3" "50" "2" "190719499" "190719499" "subst" "0.0038057" "01816" "PMS1_000020" "g.190719499G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854773G>A" "" "VUS" "" "0000149162" "3" "50" "2" "190719641" "190719641" "subst" "0.00118326" "01816" "PMS1_000023" "g.190719641A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189854915A>G" "" "VUS" "" "0000149163" "3" "50" "2" "190732559" "190732559" "subst" "0.00380853" "01816" "PMS1_000004" "g.190732559T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189867833T>C" "" "VUS" "" "0000149164" "3" "50" "2" "190732599" "190732599" "subst" "0.00185432" "01816" "PMS1_000005" "g.190732599C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.189867873C>G" "" "VUS" "" "0000169261" "0" "70" "2" "190742047" "190742047" "subst" "1.62488E-5" "00587" "PMS1_000033" "g.190742047A>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000534.4(PMS1):c.2684A>G p.(Glu895Gly)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.189877321A>G" "" "likely pathogenic" "" "0000169272" "0" "70" "2" "190656657" "190656657" "subst" "3.24958E-5" "00587" "PMS1_000034" "g.190656657A>C" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000534.4(PMS1):c.122A>C p.(Asp41Ala)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.189791931A>C" "" "likely pathogenic" "" "0000359472" "1" "50" "2" "190660683" "190660683" "subst" "0.0344415" "01873" "PMS1_000035" "g.190660683G>A" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.189795957G>A" "" "VUS" "" "0000650376" "1" "50" "2" "190708712" "190708712" "subst" "0.0113729" "03575" "PMS1_000013" "g.190708712G>A" "96/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "96 heterozygous; {DB:CLININrs2066459}" "Germline" "" "rs2066459" "0" "" "" "g.189843986G>A" "" "VUS" "" "0000659691" "0" "50" "2" "190728753" "190728757" "del" "0" "01164" "PMS1_000037" "g.190728753_190728757del" "" "" "" "" "" "Germline" "" "rs750048736" "0" "" "" "g.189864027_189864031del" "" "VUS" "ACMG" "0000669584" "3" "50" "2" "190708712" "190708712" "subst" "0.0113729" "03575" "PMS1_000013" "g.190708712G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs2066459}" "Germline" "" "rs2066459" "0" "" "" "g.189843986G>A" "" "VUS" "" "0000688589" "0" "50" "2" "190728807" "190728807" "subst" "0" "01943" "ORMDL1_000002" "g.190728807T>C" "" "" "" "PMS1(NM_001321047.1):c.2195T>C (p.F732S)" "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 PMS1 ## Count = 49 "{{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}}" "0000087474" "00016416" "55" "697" "0" "697" "0" "c.697C>T" "r.583_699del" "p.Ala195_Gln233del" "6" "0000087477" "00016416" "99" "-68" "0" "1276" "1" "c.(?_-68)_1276+?del" "r.0?" "p.0?" "_1_7i" "0000087478" "00016416" "99" "-68" "0" "1276" "1" "c.(?_-68)_1276+?del" "r.0?" "p.0?" "_1_7i" "0000148952" "00016416" "00" "79" "0" "79" "0" "c.79G>C" "r.(?)" "p.(Glu27Gln)" "" "0000148953" "00016416" "00" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Glu59Lys)" "" "0000148954" "00016416" "00" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Glu59Lys)" "" "0000148955" "00016416" "00" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thr75Ile)" "" "0000148956" "00016416" "00" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thr75Ile)" "" "0000148957" "00016416" "00" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "" "0000148958" "00016416" "00" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Ser160Leu)" "" "0000148959" "00016416" "00" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Lys)" "" "0000148960" "00016416" "00" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Lys)" "" "0000148961" "00016416" "00" "608" "0" "608" "0" "c.608T>C" "r.(?)" "p.(Val203Ala)" "" "0000148962" "00016416" "00" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "" "0000148963" "00016416" "00" "985" "0" "985" "0" "c.985C>G" "r.(?)" "p.(Leu329Val)" "" "0000148964" "00016416" "00" "1001" "0" "1001" "0" "c.1001C>T" "r.(?)" "p.(Thr334Met)" "" "0000148965" "00016416" "00" "1181" "0" "1181" "0" "c.1181T>C" "r.(?)" "p.(Met394Thr)" "" "0000148966" "00016416" "00" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(Phe436Leu)" "" "0000148967" "00016416" "00" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Gly501Arg)" "" "0000148968" "00016416" "00" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Ser529Asn)" "" "0000148969" "00016416" "00" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Glu537Lys)" "" "0000148970" "00016416" "00" "1643" "0" "1643" "0" "c.1643A>G" "r.(?)" "p.(Lys548Arg)" "" "0000148971" "00016416" "00" "1678" "0" "1678" "0" "c.1678del" "r.(?)" "p.(Val560Leufs*11)" "" "0000148972" "00016416" "00" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "" "0000148973" "00016416" "00" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Val582Ile)" "" "0000148974" "00016416" "00" "1895" "0" "1895" "0" "c.1895A>G" "r.(?)" "p.(Asn632Ser)" "" "0000148975" "00016416" "00" "1987" "0" "1987" "0" "c.1987G>T" "r.(?)" "p.(Ala663Ser)" "" "0000148976" "00016416" "00" "2064" "0" "2064" "0" "c.2064delAAG" "" "" "" "0000148977" "00016416" "00" "2167" "0" "2167" "0" "c.2167G>A" "r.(?)" "p.(Glu723Lys)" "" "0000148978" "00016416" "00" "2226" "0" "2226" "0" "c.2226del" "r.(?)" "p.(Glu743Argfs*2)" "" "0000148979" "00016416" "00" "2311" "0" "2311" "0" "c.2311C>A" "r.(?)" "p.(Pro771Thr)" "" "0000148980" "00016416" "00" "2377" "0" "2377" "0" "c.2377T>C" "r.(?)" "p.(Tyr793His)" "" "0000148981" "00016416" "00" "2417" "0" "2417" "0" "c.2417C>G" "r.(?)" "p.(Thr806Ser)" "" "0000148982" "00016416" "00" "2444" "0" "2444" "0" "c.2444C>T" "r.(?)" "p.(Ala815Val)" "" "0000148983" "00016416" "00" "2540" "0" "2540" "0" "c.2540T>C" "r.(?)" "p.(Val847Ala)" "" "0000148984" "00016416" "00" "2755" "0" "2755" "0" "c.2755C>T" "r.(?)" "p.(Arg919Cys)" "" "0000148985" "00016416" "00" "2780" "0" "2780" "0" "c.2780A>G" "r.(?)" "p.(Tyr927Cys)" "" "0000149160" "00016416" "00" "1181" "0" "1181" "0" "c.1181T>C" "r.(?)" "p.(Met394Thr)" "" "0000149161" "00016416" "00" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Gly501Arg)" "" "0000149162" "00016416" "00" "1643" "0" "1643" "0" "c.1643A>G" "r.(?)" "p.(Lys548Arg)" "" "0000149163" "00016416" "00" "2377" "0" "2377" "0" "c.2377T>C" "r.(?)" "p.(Tyr793His)" "" "0000149164" "00016416" "00" "2417" "0" "2417" "0" "c.2417C>G" "r.(?)" "p.(Thr806Ser)" "" "0000169261" "00016416" "00" "2684" "0" "2684" "0" "c.2684A>G" "r.(?)" "p.(Glu895Gly)" "" "0000169272" "00016416" "00" "122" "0" "122" "0" "c.122A>C" "r.(?)" "p.(Asp41Ala)" "" "0000359472" "00016416" "50" "315" "6" "315" "6" "c.315+6G>A" "r.spl?" "p.(=)" "3i" "0000650376" "00016416" "50" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Lys)" "" "0000659691" "00016416" "50" "2141" "0" "2145" "0" "c.2141_2145del" "r.(?)" "p.(Asn714Serfs*2)" "" "0000669584" "00016416" "50" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Lys)" "" "0000688589" "00016416" "50" "2195" "0" "2195" "0" "c.2195T>C" "r.(?)" "p.(Phe732Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000057186" "0000087474" "0000057187" "0000087478" "0000057188" "0000087477" "0000090823" "0000148952" "0000090824" "0000148953" "0000090825" "0000148954" "0000090826" "0000148955" "0000090827" "0000148956" "0000090828" "0000148957" "0000090829" "0000148958" "0000090830" "0000148959" "0000090831" "0000148960" "0000090832" "0000148961" "0000090833" "0000148962" "0000090834" "0000148963" "0000090835" "0000148964" "0000090836" "0000148965" "0000090837" "0000148966" "0000090838" "0000148967" "0000090839" "0000148968" "0000090840" "0000148969" "0000090841" "0000148970" "0000090842" "0000148971" "0000090843" "0000148972" "0000090844" "0000148973" "0000090845" "0000148974" "0000090846" "0000148975" "0000090847" "0000148976" "0000090848" "0000148977" "0000090849" "0000148978" "0000090850" "0000148979" "0000090851" "0000148980" "0000090852" "0000148981" "0000090853" "0000148982" "0000090854" "0000148983" "0000090855" "0000148984" "0000090856" "0000148985" "0000091031" "0000149160" "0000091032" "0000149161" "0000091033" "0000149162" "0000091034" "0000149163" "0000091035" "0000149164" "0000104464" "0000169261" "0000104468" "0000169272" "0000156500" "0000359472" "0000293687" "0000650376" "0000297081" "0000659691" "0000305896" "0000669584"