### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POLE) # 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}}" "POLE" "polymerase (DNA directed), epsilon, catalytic subunit" "12" "q24.3" "unknown" "LRG_789" "UD_132319695827" "" "https://www.LOVD.nl/POLE" "" "1" "9177" "5426" "174762" "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/POLE_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-12-06 00:00:00" "00006" "2022-10-27 21:09:18" "00000" "2025-10-10 16:30:04" ## 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}}" "00001771" "POLE" "polymerase (DNA directed), epsilon" "001" "NM_006231.2" "" "NP_006222.2" "" "" "" "-44" "7796" "6861" "133263945" "133200348" "00001" "2012-12-06 10:54:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00243" "IMAGE" "intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (IMAGE)" "AD" "614732" "" "" "" "00006" "2013-10-11 21:49:54" "00006" "2021-12-10 21:51:32" "00314" "polyposis" "polyposis" "" "" "" "" "" "00006" "2014-01-27 14:59:09" "" "" "00439" "NF1" "neurofibromatosis, type 1 (NF1)" "AD" "162200" "" "" "" "00006" "2014-06-30 13:51:32" "00006" "2021-10-05 14:37:45" "00681" "cancer, pancreatic" "cancer, pancreatic" "" "260350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:24:29" "03826" "CRCS12" "cancer, colorectal, susceptibility to, type 12 (CRCS-12)" "AD" "615083" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03838" "FILS" "FILS syndrome" "AR" "615139" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "06196" "IMAGEI" "IMAGE-I syndrome" "AR" "618336" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "POLE" "00243" "POLE" "03826" "POLE" "03838" "POLE" "06196" ## Individuals ## Do not remove or alter this header ## ## Count = 83 "{{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}}" "00000355" "" "" "" "1" "" "00047" "{PMID:Palles 2013:23263490}" "" "" "no" "United Kingdom (Great Britain)" "" "" "" "" "Northern European" "" "00000360" "" "" "" "1" "" "00047" "{PMID:Palles 2013:23263490}" "" "" "no" "United Kingdom (Great Britain)" "" "" "" "" "Northern European" "" "00016595" "" "" "" "1" "" "00047" "" "L424V, germline," "F" "no" "United Kingdom (Great Britain)" "" "0" "Yes" "" "Northern European" "" "00019773" "" "" "" "1" "" "00771" "{PMID:Elsayed 2015:25370038}, {DOI:Elsayed 2015:10.1038/ejhg.2014.242}" "" "F" "?" "Netherlands" "" "0" "" "" "" "" "00019821" "" "" "" "1" "" "00771" "{PMID:Elsayed 2015:25370038}, {DOI:Elsayed 2015:10.1038/ejhg.2014.242}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00019822" "" "" "" "1" "" "00771" "{PMID:Elsayed 2015:25370038}, {DOI:Elsayed 2015:10.1038/ejhg.2014.242}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00019824" "" "" "" "1" "" "00771" "{PMID:Elsayed 2015:25370038}, {DOI:Elsayed 2015:10.1038/ejhg.2014.242}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00020263" "" "" "" "1" "" "00126" "" "" "" "" "Norway" "" "0" "" "" "" "" "00020264" "" "" "" "1" "" "00126" "" "" "" "" "Norway" "" "0" "" "" "" "" "00020265" "" "" "" "1" "" "00126" "" "" "" "" "Norway" "" "0" "" "" "" "" "00020441" "" "" "" "1" "" "00126" "" "" "" "" "Norway" "" "0" "" "" "" "" "00020442" "" "" "" "1" "" "00126" "" "" "" "" "Norway" "" "0" "" "" "" "" "00020443" "" "" "" "1" "" "00126" "" "" "" "" "Norway" "" "0" "" "" "" "" "00021380" "" "" "" "1" "" "00126" "" "" "" "" "Norway" "" "0" "" "" "" "" "00022287" "" "" "" "1" "" "00126" "" "" "" "" "Norway" "" "0" "" "" "" "" "00022289" "" "" "" "1" "" "00126" "" "" "" "" "Norway" "" "0" "" "" "" "" "00048032" "" "" "" "1" "" "01383" "{PMID:Jansen 2015:26648449}, {DOI:Jansen 2015:10.1038/ejhg.2015.252}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00164998" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00183085" "" "" "" "1" "" "02583" "" "" "" "" "" "" "0" "" "" "" "" "00228151" "" "" "" "1" "" "02765" "" "" "F" "no" "New Zealand" "63y" "0" "" "" "white" "" "00265416" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00265418" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00269597" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00290639" "" "" "" "80" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290640" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290641" "" "" "" "123" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290642" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290643" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290644" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290645" "" "" "" "65" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295134" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295664" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295978" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00301379" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00304337" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00310606" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00334284" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334296" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334310" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334348" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334354" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334368" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334374" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334477" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334492" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334499" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334513" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334524" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334525" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334865" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334869" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334872" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334879" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334926" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334931" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334934" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335029" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335030" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00376156" "" "" "" "1" "" "00585" "" "" "F" "" "Belgium" "" "0" "" "" "" "" "00406981" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00406982" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00406983" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00419957" "" "" "" "1" "" "00006" "{PMID:Nakano 202:35534205}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat1" "00419958" "" "" "" "1" "" "00006" "{PMID:Nakano 202:35534205}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "M" "" "Japan" "" "0" "" "" "" "Pat2" "00419959" "" "" "" "2" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1Pat1" "00419960" "" "" "00419959" "1" "" "00006" "{PMID:Logan 2018:30503519}" "sister" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1Pat2" "00419961" "" "" "" "1" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Ireland" "" "0" "" "" "" "Pat3" "00419962" "" "" "" "1" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Australia" "" "0" "" "" "" "Pat4" "00419963" "" "" "" "1" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat5" "00419964" "" "" "" "1" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Canada" "" "0" "" "" "" "Pat6" "00419965" "" "" "" "1" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "" "Pat7" "00419966" "" "" "" "2" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Ireland" "" "0" "" "" "" "Fam7Pat8" "00419967" "" "" "00419966" "1" "" "00006" "{PMID:Logan 2018:30503519}" "sister" "F" "" "Ireland" "" "0" "" "" "" "Fam7Pat9" "00419968" "" "" "" "1" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Ireland" "" "0" "" "" "" "Pat10" "00419969" "" "" "" "2" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Australia" "" "0" "" "" "" "Fam9Pat11" "00419970" "" "" "00419969" "1" "" "00006" "{PMID:Logan 2018:30503519}" "sister" "F" "" "Australia" "" "0" "" "" "" "Fam9Pat12" "00419971" "" "" "" "1" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Australia" "" "0" "" "" "" "Pat13" "00419972" "" "" "" "1" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat14" "00419973" "" "" "" "1" "" "00006" "{PMID:Logan 2018:30503519}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat15" "00435259" "" "" "" "1" "" "02765" "" "" "F" "no" "New Zealand" "" "" "" "" "European" "" "00435496" "" "" "" "1" "" "00006" "{PMID:Rots 2023:37196654}" "2-generation family, unaffected non-carrier parents, no affected relatives" "F" "" "" "" "0" "" "" "" "Pat13" "00436397" "" "" "" "1" "" "03628" "" "" "M" "no" "Hungary" "" "" "" "" "" "" "00457379" "" "" "" "1" "" "04749" "Yuen (unpublished)" "" "F" "" "Singapore" "" "0" "" "" "China" "MINAS_25" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 82 "{{individualid}}" "{{diseaseid}}" "00000355" "00091" "00000360" "00091" "00016595" "00091" "00019773" "00091" "00019821" "00091" "00019821" "00439" "00019822" "00091" "00019824" "00091" "00020263" "03826" "00020264" "03826" "00020265" "03826" "00020441" "03826" "00020442" "03826" "00020443" "03826" "00021380" "03826" "00022287" "03826" "00022289" "03826" "00048032" "00091" "00164998" "00091" "00183085" "03826" "00228151" "03826" "00269597" "00314" "00290639" "00198" "00290640" "00198" "00290641" "00198" "00290642" "00198" "00290643" "00198" "00290644" "00198" "00290645" "00198" "00295134" "00198" "00295664" "00198" "00295978" "00198" "00301379" "00198" "00304337" "00198" "00310606" "00314" "00334284" "05793" "00334296" "05793" "00334310" "05793" "00334348" "05793" "00334354" "05793" "00334368" "05793" "00334374" "05793" "00334477" "05793" "00334492" "05793" "00334499" "05793" "00334513" "05793" "00334524" "05793" "00334525" "05793" "00334865" "05793" "00334869" "05793" "00334872" "05793" "00334879" "05793" "00334926" "05793" "00334931" "05793" "00334934" "05793" "00335029" "05793" "00335030" "05793" "00376156" "00681" "00406981" "05489" "00406982" "05489" "00406983" "05489" "00419957" "00243" "00419958" "00243" "00419959" "00243" "00419960" "00243" "00419961" "00243" "00419962" "00243" "00419963" "00243" "00419964" "00243" "00419965" "00243" "00419966" "00243" "00419967" "00243" "00419968" "00243" "00419969" "00243" "00419970" "00243" "00419971" "00243" "00419972" "00243" "00419973" "00243" "00435259" "00314" "00435496" "05611" "00436397" "05093" "00457379" "04296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 00243, 00314, 00439, 00681, 03826, 03838, 04296, 05093, 05489, 05611, 05793, 06196 ## Count = 65 "{{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}}" "0000000047" "00091" "00000355" "00047" "Familial, autosomal dominant" "" "Multiple colorectal adenomas\r\nColorectal Carcinoma\r\nEndometrial carcinoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000050" "00091" "00000360" "00047" "Familial, autosomal dominant" "" "Colorectal carcinoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015218" "00091" "00016595" "00047" "Familial, autosomal dominant" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017576" "00091" "00019821" "00771" "Familial" "30y" "30y MSI caecum adenocarcinoma; 15y astrocytoma, presumably as a consequence of neurofibromatosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017577" "00091" "00019822" "00771" "Familial" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000018034" "03826" "00020263" "00126" "Familial, autosomal dominant" "" "Bilateral ovary cancer 40 years of age\r\nColorectal cancer 48 years of age\r\nMultiple adenomas in the colon" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000018035" "03826" "00020264" "00126" "Familial, autosomal dominant" "" "Multiple adenomas in the colon" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000018036" "03826" "00020265" "00126" "Familial, autosomal dominant" "" "Colorectal cancer 43 years of age\r\nMultiple adenomas" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000018213" "03826" "00020441" "00126" "Familial, autosomal dominant" "" "Colorectal cancer at 42 years of age\r\nSmall intestine cancer 54 and 57 years of age\r\nMultiple adenomas in colon small intestine and stomach" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000018214" "03826" "00020442" "00126" "Familial, autosomal dominant" "" "Colorectal cancer 38 years of age." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000018215" "03826" "00020443" "00126" "Familial, autosomal dominant" "" "A single adenoma (not performed colonoscopy for 8 years on date of submission)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020058" "03826" "00021380" "00126" "Familial, autosomal dominant" "" "Multiple colorectal adenomas" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020059" "03826" "00022287" "00126" "Familial, autosomal dominant" "" "Multiple colorectal adenomas" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020061" "03826" "00022289" "00126" "Familial, autosomal dominant" "" "Colorectal adenomas" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000042996" "00091" "00019773" "00006" "Unknown" "" "40y-MSI caecum tumour, two adenomas, developed cumulatively ~30\r\npolyps; 50y microsatellite stable endometrial cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143841" "03826" "00183085" "02583" "Familial, autosomal dominant" "" "Ovarian carcinoma\r\nColorectal adenomas (35)\r\nColonic adenocarcinoma (grade 2 with focal mucinous differentiation)\r\nBreast carcinoma (triple negative high grade ductal carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172066" "03826" "00228151" "02765" "Familial" "40y-59y" "Intestinal polyps (HP:0200008)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172067" "03826" "00228151" "02765" "Familial" "40y-59y" "Colorectal polyposis HP:0200063, 21 tubular adenomas and 4 hyperplastic polyps removed between ages 40 and 59. Family history of bowel cancer and polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223228" "00198" "00295664" "01164" "Unknown" "" "Neoplasm of the colon (HP:0100273)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223445" "00198" "00295978" "01164" "Unknown" "" "Neoplasm of the colon (HP:0100273)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228557" "00198" "00301379" "01164" "Unknown" "" "Dysgerminoma (HP:0100621); Intestinal polyp (HP:0005266)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253094" "05793" "00334284" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253106" "05793" "00334296" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253120" "05793" "00334310" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253143" "05793" "00334348" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253149" "05793" "00334354" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253163" "05793" "00334368" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253168" "05793" "00334374" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253190" "05793" "00334477" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253205" "05793" "00334492" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253212" "05793" "00334499" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253216" "05793" "00334513" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253218" "05793" "00334524" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253219" "05793" "00334525" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253262" "05793" "00334865" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253264" "05793" "00334869" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253267" "05793" "00334872" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253270" "05793" "00334879" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253277" "05793" "00334926" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253279" "05793" "00334931" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253280" "05793" "00334934" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253311" "05793" "00335029" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253312" "05793" "00335030" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000271367" "00681" "00376156" "00585" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "pancreatic ductal adenocarcinoma" "" "0000311223" "00243" "00419957" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., intrauterine growth retardation; adrenal insufficiency; no genitourinary abnormality; immunodeficiency; Café au lait patches,; diffuse large B-cell lymphoma; 9y-delayed mental development, intellectual disability IQ33" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "" "" "0000311224" "00243" "00419958" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., jaundice; intrauterine growth retardation; adrenal insufficiency; immunodeficiency; growth hormone insufficiency; diffuse large B-cell lymphoma" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "" "" "0000311225" "00243" "00419959" "00006" "Familial, autosomal recessive" "18y" "intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; scoliosis; osteopenia; small patella; seizures; gastrostomy; eczema" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311226" "00243" "00419960" "00006" "Familial, autosomal recessive" "1y" "intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311227" "00243" "00419961" "00006" "Familial, autosomal recessive" "7y" "intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; midline accessory incisor; osteopenia; infant eczema" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311228" "00243" "00419962" "00006" "Familial, autosomal recessive" "50y" "intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; IgM paraproteinaemia" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311229" "00243" "00419963" "00006" "Familial, autosomal recessive" "12y" "intrauterine growth restriction; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; hypopituitarism; T cell lymphoma; gastrostomy; absent patella" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311230" "00243" "00419964" "00006" "Familial, autosomal recessive" "10y" "intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; bilat coxa valga; 11 ribs; 6 lumbar vertebrae; scoliosis; gastrostomy; infant eczema" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311231" "00243" "00419965" "00006" "Familial, autosomal recessive" "13y" "intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; no immunodeficiency; hypopituitarism; atrial septal defect; brachydactyly; gastrostomy" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311232" "00243" "00419966" "00006" "Familial, autosomal recessive" "3y" "intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; developmental dysplasia hip; gastrostomy" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311233" "00243" "00419967" "00006" "Familial, autosomal recessive" "2y" "intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; developmental dysplasia hip; gastrostomy" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311234" "00243" "00419968" "00006" "Familial, autosomal recessive" "39y" "intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; 11 ribs; clinodactyly; osteopenia; café au lait patches" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311235" "00243" "00419969" "00006" "Familial, autosomal recessive" "3m" "intrauterine growth restriction; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; café au lait patch" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311236" "00243" "00419970" "00006" "Familial, autosomal recessive" "12y" "intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; no immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311237" "00243" "00419971" "00006" "Familial, autosomal recessive" "22y" "intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; café au lait patch" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311238" "00243" "00419972" "00006" "Familial, autosomal recessive" "18y" "intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; gastrostomy; hypercalaemia in infancy; café au lait patches; developmental dysplasia hip; kyphoscoliosis" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000311239" "00243" "00419973" "00006" "Familial, autosomal recessive" "31y" "intrauterine growth restriction; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; café au lait patches; seizures; osteopenia; osteoporosis; nodular sclerosis; Hodgkin’s lymphoma" "" "" "" "" "" "" "" "" "" "" "" "" "IMAGE1" "IMAGe syndrome" "" "0000325456" "00314" "00435259" "02765" "Unknown" "75" "" "" "" "" "" "" "" "" "" "" "" "" "" "75" "75" "" "0000325683" "05611" "00435496" "00006" "Isolated (sporadic)" "6y" "see paper; ..., no complications pregnancy/delivery; birth 39w; 12m-first words; motor delay, >24m-first steps; mild intellectual disability; no autism spectrum disorder; Tantrums, inattention; no psychosis/schizophrenia; no use psychiatric drugs; history of obstructive sleep apnea; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; neurogenic bladder; tethered cord; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; macrocephaly, prominent forehead, wide mouth, slightly prominent anti- helices, joint hypermobility; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, G-tube; no gastroesophageal reflux; chronic constipation; failure to thrive, history of frequent vomiting; no skin hyperlaxity; no genitourinary abnormalities; livedo reticularis" "" "" "" "" "" "" "" "" "" "" "" "" "NEDCFSA" "neurodevelopmental delay" "" "0000326577" "05093" "00436397" "03628" "Unknown" "" "adrenocortical cancer" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345841" "04296" "00457379" "04749" "Unknown" "" "Papillary thyroid ca 52y Triple negative breast ca 39" "" "" "" "" "" "" "" "" "" "" "" "" "" "MINAS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 83 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000370" "00000355" "1" "00047" "00047" "2013-01-15 15:02:28" "" "" "?" "DNA" "" "" "0000000377" "00000360" "1" "00047" "00047" "2013-01-16 12:02:12" "" "" "?" "DNA" "" "" "0000016547" "00016595" "1" "00047" "00047" "2014-05-15 17:34:20" "" "" "PCR" "DNA" "Blood" "" "0000019800" "00019773" "1" "00771" "00771" "2014-08-26 12:57:32" "" "" "PCR;SEQ;TaqMan" "DNA" "" "" "0000019808" "00019821" "1" "00771" "00771" "2014-08-26 13:22:15" "" "" "TaqMan" "DNA" "" "" "0000019818" "00019822" "1" "00771" "00771" "2014-08-27 18:00:46" "" "" "TaqMan" "DNA" "" "" "0000019819" "00019824" "1" "00771" "00771" "2014-08-27 18:04:19" "" "" "SEQ-NG-R" "DNA" "" "" "0000020260" "00020263" "1" "00126" "00126" "2014-10-07 14:18:39" "00126" "2014-10-07 22:51:42" "SEQ-NG-I" "DNA" "" "" "0000020261" "00020264" "1" "00126" "00126" "2014-10-07 14:35:15" "00126" "2014-10-07 22:55:18" "SEQ-NG-I" "DNA" "" "" "0000020262" "00020265" "1" "00126" "00126" "2014-10-07 14:43:07" "00126" "2014-10-07 23:04:16" "SEQ-NG-I" "DNA" "" "" "0000020438" "00020441" "1" "00126" "00126" "2014-10-07 21:04:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000020440" "00020442" "1" "00126" "00126" "2014-10-07 21:14:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000020441" "00020443" "1" "00126" "00126" "2014-10-07 21:22:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000022284" "00021380" "1" "00126" "00126" "2014-10-07 22:22:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000022285" "00022287" "1" "00126" "00126" "2014-10-07 22:26:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000022287" "00022289" "1" "00126" "00126" "2014-10-07 22:41:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000048157" "00048032" "1" "01383" "01383" "2015-09-02 15:35:12" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000165868" "00164998" "1" "02509" "02509" "2018-06-20 15:21:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000184045" "00183085" "1" "02583" "02583" "2018-10-13 10:09:09" "" "" "SEQ" "DNA" "blood" "" "0000229239" "00228151" "1" "02765" "02765" "2019-03-19 03:35:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000266542" "00265416" "1" "01164" "01164" "2019-09-25 09:37:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000266544" "00265418" "1" "01164" "01164" "2019-09-25 09:37:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000270753" "00269597" "1" "01741" "01741" "2019-12-02 11:49:44" "" "" "SEQ" "DNA" "" "" "0000291807" "00290639" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291808" "00290640" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291809" "00290641" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291810" "00290642" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291811" "00290643" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291812" "00290644" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291813" "00290645" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296302" "00295134" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296836" "00295664" "1" "01164" "01164" "2020-03-22 12:44:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000297149" "00295978" "1" "01164" "01164" "2020-04-01 11:00:11" "" "" "SEQ-NG-S" "DNA" "" "" "0000302500" "00301379" "1" "01164" "01164" "2020-05-15 11:06:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000305466" "00304337" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311757" "00310606" "1" "01741" "01741" "2020-09-11 11:14:26" "" "" "SEQ-NG" "DNA" "" "" "0000335510" "00334284" "1" "04011" "04011" "2021-02-27 03:01:20" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335523" "00334296" "1" "04011" "04011" "2021-02-27 05:30:07" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335538" "00334310" "1" "04011" "04011" "2021-02-27 07:17:45" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335576" "00334348" "1" "04011" "04011" "2021-02-28 03:24:44" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335582" "00334354" "1" "04011" "04011" "2021-02-28 04:48:03" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335596" "00334368" "1" "04011" "04011" "2021-02-28 08:40:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335602" "00334374" "1" "04011" "04011" "2021-02-28 10:02:36" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335706" "00334477" "1" "04011" "04011" "2021-03-01 02:49:24" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335721" "00334492" "1" "04011" "04011" "2021-03-01 06:15:56" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335728" "00334499" "1" "04011" "04011" "2021-03-01 07:25:51" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335742" "00334513" "1" "04011" "04011" "2021-03-01 09:57:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335753" "00334524" "1" "04011" "04011" "2021-03-01 11:10:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335754" "00334525" "1" "04011" "04011" "2021-03-01 11:22:02" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336094" "00334865" "1" "04011" "04011" "2021-03-02 07:52:07" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336098" "00334869" "1" "04011" "04011" "2021-03-02 09:21:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336101" "00334872" "1" "04011" "04011" "2021-03-02 09:31:09" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336108" "00334879" "1" "04011" "04011" "2021-03-02 09:52:28" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336156" "00334926" "1" "04011" "04011" "2021-03-02 13:36:35" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336161" "00334931" "1" "04011" "04011" "2021-03-02 13:43:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336163" "00334934" "1" "04011" "04011" "2021-03-02 13:49:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336258" "00335029" "1" "04011" "04011" "2021-03-03 04:37:42" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336259" "00335030" "1" "04011" "04011" "2021-03-03 04:40:31" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000377352" "00376156" "1" "00585" "00585" "2021-06-17 14:26:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000408227" "00406981" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408228" "00406982" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408229" "00406983" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000421262" "00419957" "1" "00006" "00006" "2022-10-27 17:37:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421263" "00419958" "1" "00006" "00006" "2022-10-27 19:30:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421264" "00419959" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000421265" "00419960" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421266" "00419961" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000421267" "00419962" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421268" "00419963" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421269" "00419964" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421270" "00419965" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421271" "00419966" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421272" "00419967" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421273" "00419968" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421274" "00419969" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421275" "00419970" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421276" "00419971" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421277" "00419972" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421278" "00419973" "1" "00006" "00006" "2022-10-27 21:13:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436739" "00435259" "1" "02765" "02765" "2023-06-27 02:34:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000436975" "00435496" "1" "00006" "00006" "2023-08-03 13:47:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437879" "00436397" "1" "03628" "03628" "2023-09-10 14:52:41" "" "" "SEQ;SEQ-NG-I" "DNA" "PBMC" "Illumina Hereditary cancer panel incl 113 tumor susceptibility genes" "0000458999" "00457379" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000000370" "POLD1" "0000000370" "POLE" "0000000377" "POLD1" "0000000377" "POLE" "0000016547" "POLE" "0000019800" "POLE" "0000019808" "POLE" "0000019818" "POLE" "0000019819" "POLE" "0000020262" "POLE" "0000020440" "POLE" "0000048157" "POLE" "0000229239" "APC" "0000229239" "BMPR1A" "0000229239" "EPCAM" "0000229239" "GREM1" "0000229239" "MLH1" "0000229239" "MSH2" "0000229239" "MSH6" "0000229239" "MUTYH" "0000229239" "PMS2" "0000229239" "POLD1" "0000229239" "POLE" "0000229239" "PTEN" "0000229239" "SMAD4" "0000229239" "STK11" "0000270753" "POLE" "0000311757" "APC" "0000311757" "MSH3" "0000311757" "MUTYH" "0000311757" "NTHL1" "0000311757" "POLD1" "0000311757" "POLE" "0000436739" "APC" "0000436739" "BMPR1A" "0000436739" "MUTYH" "0000436739" "NTHL1" "0000436739" "POLD1" "0000436739" "POLE" "0000436739" "SMAD4" ## 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 = 633 "{{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}}" "0000016959" "0" "55" "12" "133250250" "133250250" "subst" "0" "00047" "POLE_000001" "g.133250250G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000016964" "0" "77" "12" "133250250" "133250250" "subst" "0" "00047" "POLE_000001" "g.133250250G>C" "" "{PMID:Palles et al10.1038/ng.2503}" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000036406" "0" "75" "12" "133250250" "133250250" "subst" "0" "00047" "POLE_000001" "g.133250250G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000040248" "0" "70" "12" "133250250" "133250250" "subst" "0" "00771" "POLE_000001" "g.133250250G>C" "" "{PMID:Elsayed 2015:25370038}, {DOI:Elsayed 2015:10.1038/ejhg.2014.242}" "" "" "" "Germline" "" "" "0" "" "" "g.132673664G>C" "" "likely pathogenic" "" "0000040256" "21" "70" "12" "133250250" "133250250" "subst" "0" "00771" "POLE_000001" "g.133250250G>C" "1/1188 cases" "{PMID:Elsayed 2015:25370038}, {DOI:Elsayed 2015:10.1038/ejhg.2014.242}" "" "" "" "Germline" "" "" "0" "" "" "g.132673664G>C" "" "likely pathogenic" "" "0000040263" "0" "70" "12" "133250250" "133250250" "subst" "0" "00771" "POLE_000001" "g.133250250G>C" "1/1188 cases" "{PMID:Elsayed 2015:25370038}, {DOI:Elsayed 2015:10.1038/ejhg.2014.242}" "" "" "" "Germline" "" "" "0" "" "" "g.132673664G>C" "" "likely pathogenic" "" "0000040264" "0" "70" "12" "133250250" "133250250" "subst" "0" "00771" "POLE_000001" "g.133250250G>C" "1/1188 cases" "{PMID:Elsayed 2015:25370038}, {DOI:Elsayed 2015:10.1038/ejhg.2014.242}" "" "" "" "De novo" "" "" "0" "" "" "g.132673664G>C" "" "likely pathogenic" "" "0000041000" "20" "90" "12" "133249850" "133249850" "subst" "0" "00126" "POLE_000002" "g.133249850T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132673264T>A" "" "pathogenic" "" "0000041001" "10" "90" "12" "133249850" "133249850" "subst" "0" "00126" "POLE_000002" "g.133249850T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132673264T>A" "" "pathogenic" "" "0000041002" "20" "90" "12" "133249850" "133249850" "subst" "0" "00126" "POLE_000002" "g.133249850T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132673264T>A" "" "pathogenic" "" "0000041309" "10" "90" "12" "133249850" "133249850" "subst" "0" "00126" "POLE_000002" "g.133249850T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132673264T>A" "" "pathogenic" "" "0000041311" "0" "90" "12" "133249850" "133249850" "subst" "0" "00126" "POLE_000002" "g.133249850T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132673264T>A" "" "pathogenic" "" "0000041312" "0" "90" "12" "133249850" "133249850" "subst" "0" "00126" "POLE_000002" "g.133249850T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132673264T>A" "" "pathogenic" "" "0000044476" "10" "90" "12" "133249850" "133249850" "subst" "0" "00126" "POLE_000002" "g.133249850T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132673264T>A" "" "pathogenic" "" "0000044477" "10" "90" "12" "133249850" "133249850" "subst" "0" "00126" "POLE_000002" "g.133249850T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132673264T>A" "" "pathogenic" "" "0000044479" "11" "90" "12" "133249850" "133249850" "subst" "0" "00126" "POLE_000002" "g.133249850T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132673264T>A" "" "pathogenic" "" "0000076979" "0" "50" "12" "133253180" "133253180" "subst" "0.000832548" "01383" "POLE_000003" "g.133253180A>T" "" "{PMID:Jansen 2015:26648449}, {DOI:Jansen 2015:10.1038/ejhg.2015.252}" "" "" "" "Germline" "" "rs139075637" "0" "" "" "g.132676594A>T" "" "VUS" "" "0000247067" "0" "10" "12" "133237767" "133237767" "del" "0" "02330" "POLE_000111" "g.133237767del" "" "" "" "POLE(NM_006231.2):c.2865-4del (p.?), POLE(NM_006231.3):c.2865-4delT, POLE(NM_006231.4):c.2865-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661181del" "" "benign" "" "0000247085" "0" "10" "12" "133245032" "133245032" "subst" "0.0112338" "02330" "POLE_000072" "g.133245032A>T" "" "" "" "POLE(NM_006231.2):c.2083T>A (p.(Phe695Ile)), POLE(NM_006231.3):c.2083T>A (p.F695I), POLE(NM_006231.4):c.2083T>A (p.F695I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132668446A>T" "" "benign" "" "0000247086" "0" "10" "12" "133234020" "133234020" "subst" "0.0383918" "02330" "POLE_000058" "g.133234020A>G" "" "" "" "POLE(NM_006231.2):c.3379-5T>C (p.?), POLE(NM_006231.3):c.3379-5T>C, POLE(NM_006231.4):c.3379-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132657434A>G" "" "benign" "" "0000247140" "0" "10" "12" "133219989" "133219989" "subst" "0.0619527" "02330" "POLE_000110" "g.133219989A>T" "" "" "" "POLE(NM_006231.4):c.4444+4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643403A>T" "" "benign" "" "0000247159" "0" "30" "12" "133256776" "133256776" "subst" "2.03044E-5" "02330" "POLE_000100" "g.133256776A>G" "" "" "" "POLE(NM_006231.4):c.318T>C (p.I106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132680190A>G" "" "likely benign" "" "0000247168" "0" "30" "12" "133257715" "133257715" "subst" "4.06296E-6" "02330" "POLE_000103" "g.133257715A>G" "" "" "" "POLE(NM_006231.4):c.204+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681129A>G" "" "likely benign" "" "0000249163" "0" "10" "12" "133237767" "133237767" "del" "0" "02325" "POLE_000070" "g.133237767del" "" "" "" "POLE(NM_006231.2):c.2865-4del (p.?), POLE(NM_006231.3):c.2865-4delT, POLE(NM_006231.4):c.2865-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661181del" "" "benign" "" "0000249861" "0" "10" "12" "133237767" "133237767" "del" "0" "02329" "POLE_000111" "g.133237767del" "" "" "" "POLE(NM_006231.2):c.2865-4del (p.?), POLE(NM_006231.3):c.2865-4delT, POLE(NM_006231.4):c.2865-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661181del" "" "benign" "" "0000249998" "0" "10" "12" "133245032" "133245032" "subst" "0.0112338" "02329" "POLE_000072" "g.133245032A>T" "" "" "" "POLE(NM_006231.2):c.2083T>A (p.(Phe695Ile)), POLE(NM_006231.3):c.2083T>A (p.F695I), POLE(NM_006231.4):c.2083T>A (p.F695I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132668446A>T" "" "benign" "" "0000250001" "0" "10" "12" "133234020" "133234020" "subst" "0.0383918" "02329" "POLE_000058" "g.133234020A>G" "" "" "" "POLE(NM_006231.2):c.3379-5T>C (p.?), POLE(NM_006231.3):c.3379-5T>C, POLE(NM_006231.4):c.3379-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132657434A>G" "" "benign" "" "0000250311" "0" "30" "12" "133209021" "133209021" "subst" "3.65453E-5" "02329" "POLE_000020" "g.133209021A>T" "" "" "" "POLE(NM_006231.4):c.6210T>A (p.I2070=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132632435A>T" "" "likely benign" "" "0000250312" "0" "30" "12" "133252704" "133252704" "subst" "4.50945E-5" "02329" "POLE_000087" "g.133252704A>G" "" "" "" "POLE(NM_006231.4):c.996T>C (p.F332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132676118A>G" "" "likely benign" "" "0000250567" "0" "50" "12" "133238204" "133238204" "subst" "6.09093E-5" "02329" "POLE_000071" "g.133238204A>G" "" "" "" "POLE(NM_006231.4):c.2773T>C (p.S925P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661618A>G" "" "VUS" "" "0000250610" "0" "10" "12" "133237767" "133237767" "del" "0" "02326" "POLE_000111" "g.133237767del" "" "" "" "POLE(NM_006231.2):c.2865-4del (p.?), POLE(NM_006231.3):c.2865-4delT, POLE(NM_006231.4):c.2865-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661181del" "" "benign" "" "0000250858" "0" "10" "12" "133245032" "133245032" "subst" "0.0112338" "02326" "POLE_000072" "g.133245032A>T" "" "" "" "POLE(NM_006231.2):c.2083T>A (p.(Phe695Ile)), POLE(NM_006231.3):c.2083T>A (p.F695I), POLE(NM_006231.4):c.2083T>A (p.F695I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132668446A>T" "" "benign" "" "0000250861" "0" "10" "12" "133234020" "133234020" "subst" "0.0383918" "02326" "POLE_000058" "g.133234020A>G" "" "" "" "POLE(NM_006231.2):c.3379-5T>C (p.?), POLE(NM_006231.3):c.3379-5T>C, POLE(NM_006231.4):c.3379-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132657434A>G" "" "benign" "" "0000252962" "0" "10" "12" "133237767" "133237767" "del" "0" "01943" "POLE_000111" "g.133237767del" "" "" "" "POLE(NM_006231.2):c.2865-4del (p.?), POLE(NM_006231.3):c.2865-4delT, POLE(NM_006231.4):c.2865-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661181del" "" "benign" "" "0000254900" "0" "30" "12" "133196619" "133196619" "subst" "0.00071166" "01943" "P2RX2_000004" "g.133196619A>G" "" "" "" "P2RX2(NM_001282165.1):c.491A>G (p.Q164R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132620033A>G" "" "likely benign" "" "0000294126" "0" "10" "12" "133252693" "133252693" "subst" "0.0019584" "02330" "POLE_000086" "g.133252693T>C" "" "" "" "POLE(NM_006231.2):c.1007A>G (p.(Asn336Ser)), POLE(NM_006231.4):c.1007A>G (p.N336S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132676107T>C" "" "benign" "" "0000294127" "0" "30" "12" "133250232" "133250232" "subst" "0.000516042" "02330" "POLE_000084" "g.133250232C>T" "" "" "" "POLE(NM_006231.4):c.1288G>A (p.A430T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673646C>T" "" "likely benign" "" "0000294128" "0" "30" "12" "133250183" "133250183" "subst" "0.00027313" "02330" "POLE_000083" "g.133250183C>T" "" "" "" "POLE(NM_006231.2):c.1337G>A (p.(Arg446Gln)), POLE(NM_006231.3):c.1337G>A (p.R446Q), POLE(NM_006231.4):c.1337G>A (p.R446Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673597C>T" "" "likely benign" "" "0000294129" "0" "10" "12" "133249818" "133249818" "subst" "0.000125878" "02330" "POLE_000081" "g.133249818G>A" "" "" "" "POLE(NM_006231.2):c.1405C>T (p.(Leu469=)), POLE(NM_006231.4):c.1405C>T (p.L469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673232G>A" "" "benign" "" "0000294130" "0" "30" "12" "133249756" "133249756" "subst" "1.62491E-5" "02330" "POLE_000080" "g.133249756G>A" "" "" "" "POLE(NM_006231.4):c.1467C>T (p.P489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673170G>A" "" "likely benign" "" "0000294131" "0" "10" "12" "133249753" "133249753" "subst" "0.00167765" "02330" "POLE_000079" "g.133249753G>A" "" "" "" "POLE(NM_006231.2):c.1470C>T (p.(Asp490=)), POLE(NM_006231.3):c.1470C>T (p.D490=), POLE(NM_006231.4):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673167G>A" "" "benign" "" "0000294132" "0" "30" "12" "133249311" "133249311" "subst" "0" "02330" "POLE_000076" "g.133249311C>A" "" "" "" "POLE(NM_006231.4):c.1588G>T (p.D530Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132672725C>A" "" "likely benign" "" "0000294133" "0" "30" "12" "133248900" "133248900" "subst" "0.000154331" "02330" "POLE_000073" "g.133248900G>A" "" "" "" "POLE(NM_006231.4):c.1695C>T (p.A565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132672314G>A" "" "likely benign" "" "0000294134" "0" "30" "12" "133263886" "133263886" "subst" "0.0025492" "02330" "POLE_000108" "g.133263886C>G" "" "" "" "POLE(NM_006231.2):c.16G>C (p.(Gly6Arg)), POLE(NM_006231.3):c.16G>C (p.G6R), POLE(NM_006231.4):c.16G>C (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132687300C>G" "" "likely benign" "" "0000294136" "0" "30" "12" "133245028" "133245028" "subst" "8.1656E-6" "02330" "POLE_000125" "g.133245028G>A" "" "" "" "POLE(NM_006231.4):c.2087C>T (p.P696L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132668442G>A" "" "likely benign" "" "0000294137" "0" "10" "12" "133244242" "133244242" "subst" "0.0119132" "02330" "POLE_000124" "g.133244242C>T" "" "" "" "POLE(NM_006231.2):c.2174-8G>A (p.(=)), POLE(NM_006231.4):c.2174-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132667656C>T" "" "benign" "" "0000294138" "0" "30" "12" "133244194" "133244194" "subst" "4.06065E-6" "02330" "POLE_000123" "g.133244194C>G" "" "" "" "POLE(NM_006231.4):c.2214G>C (p.K738N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132667608C>G" "" "likely benign" "" "0000294139" "0" "10" "12" "133242049" "133242049" "subst" "0.0051343" "02330" "POLE_000122" "g.133242049T>C" "" "" "" "POLE(NM_006231.2):c.2320-13A>G (p.(=)), POLE(NM_006231.4):c.2320-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132665463T>C" "" "benign" "" "0000294140" "0" "10" "12" "133242016" "133242016" "subst" "0.0237813" "02330" "POLE_000121" "g.133242016C>T" "" "" "" "POLE(NM_006231.2):c.2340G>A (p.(Ser780=)), POLE(NM_006231.4):c.2340G>A (p.S780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132665430C>T" "" "benign" "" "0000294141" "0" "10" "12" "133241063" "133241063" "subst" "0.0170687" "02330" "POLE_000117" "g.133241063C>T" "" "" "" "POLE(NM_006231.2):c.2469-15G>A (p.(=)), POLE(NM_006231.4):c.2469-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132664477C>T" "" "benign" "" "0000294142" "0" "10" "12" "133240967" "133240967" "subst" "0.00345439" "02330" "POLE_000116" "g.133240967G>A" "" "" "" "POLE(NM_006231.2):c.2550C>T (p.(Ile850=)), POLE(NM_006231.4):c.2550C>T (p.I850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132664381G>A" "" "benign" "" "0000294143" "0" "30" "12" "133240697" "133240697" "subst" "2.43667E-5" "02330" "POLE_000115" "g.133240697C>T" "" "" "" "POLE(NM_006231.4):c.2599G>A (p.V867I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132664111C>T" "" "likely benign" "" "0000294144" "0" "30" "12" "133257219" "133257219" "subst" "1.21828E-5" "02330" "POLE_000102" "g.133257219T>C" "" "" "" "POLE(NM_006231.4):c.259A>G (p.I87V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132680633T>C" "" "likely benign" "" "0000294145" "0" "10" "12" "133257208" "133257208" "subst" "2.03052E-5" "02330" "POLE_000101" "g.133257208G>A" "" "" "" "POLE(NM_006231.4):c.270C>T (p.D90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132680622G>A" "" "benign" "" "0000294147" "0" "10" "12" "133237687" "133237687" "subst" "0.00232358" "02330" "POLE_000068" "g.133237687G>A" "" "" "" "POLE(NM_006231.3):c.2928C>T (p.R976=), POLE(NM_006231.4):c.2928C>T (p.R976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661101G>A" "" "benign" "" "0000294148" "0" "10" "12" "133236030" "133236030" "subst" "0.00533639" "02330" "POLE_000066" "g.133236030C>T" "" "" "" "POLE(NM_006231.4):c.3126G>A (p.K1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132659444C>T" "" "benign" "" "0000294149" "0" "10" "12" "133236000" "133236000" "subst" "0.501925" "02330" "POLE_000065" "g.133236000C>T" "" "" "" "POLE(NM_006231.4):c.3156G>A (p.T1052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132659414C>T" "" "benign" "" "0000294150" "0" "30" "12" "133235973" "133235973" "subst" "2.43694E-5" "02330" "POLE_000064" "g.133235973G>A" "" "" "" "POLE(NM_006231.4):c.3183C>T (p.A1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132659387G>A" "" "likely benign" "" "0000294151" "0" "30" "12" "133235911" "133235911" "subst" "0.000134471" "02330" "POLE_000063" "g.133235911C>T" "" "" "" "POLE(NM_006231.3):c.3245G>A (p.R1082H), POLE(NM_006231.4):c.3245G>A (p.R1082H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132659325C>T" "" "likely benign" "" "0000294152" "0" "30" "12" "133235887" "133235887" "subst" "1.6376E-5" "02330" "POLE_000062" "g.133235887G>A" "" "" "" "POLE(NM_006231.4):c.3269C>T (p.T1090M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132659301G>A" "" "likely benign" "" "0000294154" "0" "10" "12" "133233705" "133233705" "subst" "0.970992" "02330" "POLE_000056" "g.133233705T>C" "" "" "" "POLE(NM_006231.4):c.3582+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132657119T>C" "" "benign" "" "0000294155" "0" "30" "12" "133226363" "133226363" "subst" "8.12321E-6" "02330" "POLE_000054" "g.133226363T>G" "" "" "" "POLE(NM_006231.4):c.3695A>C (p.K1232T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132649777T>G" "" "likely benign" "" "0000294156" "0" "30" "12" "133225927" "133225927" "subst" "7.77344E-5" "02330" "POLE_000051" "g.133225927G>A" "" "" "" "POLE(NM_006231.4):c.3970C>T (p.R1324C, p.(Arg1324Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132649341G>A" "" "likely benign" "" "0000294157" "0" "30" "12" "133225564" "133225564" "subst" "0" "02330" "POLE_000049" "g.133225564T>C" "" "" "" "POLE(NM_006231.4):c.4100A>G (p.Y1367C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132648978T>C" "" "likely benign" "" "0000294158" "0" "10" "12" "133220526" "133220526" "subst" "0.115103" "02330" "POLE_000048" "g.133220526T>C" "" "" "" "POLE(NM_006231.4):c.4187A>G (p.N1396S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643940T>C" "" "benign" "" "0000294159" "0" "10" "12" "133256247" "133256247" "subst" "4.48273E-5" "02330" "POLE_000099" "g.133256247G>A" "" "" "" "POLE(NM_006231.4):c.424-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132679661G>A" "" "benign" "" "0000294160" "0" "10" "12" "133220454" "133220454" "subst" "0.00358219" "02330" "POLE_000047" "g.133220454G>A" "" "" "" "POLE(NM_006231.2):c.4259C>T (p.(Ala1420Val)), POLE(NM_006231.3):c.4259C>T (p.A1420V), POLE(NM_006231.4):c.4259C>T (p.A1420V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643868G>A" "" "benign" "" "0000294161" "0" "10" "12" "133220418" "133220418" "subst" "0.0238295" "02330" "POLE_000046" "g.133220418G>A" "" "" "" "POLE(NM_006231.2):c.4290+5C>T (p.?), POLE(NM_006231.3):c.4290+5C>T, POLE(NM_006231.4):c.4290+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643832G>A" "" "benign" "" "0000294162" "0" "30" "12" "133220142" "133220142" "subst" "1.22023E-5" "02330" "POLE_000045" "g.133220142G>A" "" "" "" "POLE(NM_006231.4):c.4295C>T (p.P1432L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643556G>A" "" "likely benign" "" "0000294163" "0" "30" "12" "133219861" "133219861" "subst" "4.10705E-6" "02330" "POLE_000042" "g.133219861G>A" "" "" "" "POLE(NM_006231.2):c.4500C>T (p.(Phe1500=)), POLE(NM_006231.4):c.4500C>T (p.F1500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643275G>A" "" "likely benign" "" "0000294164" "0" "30" "12" "133219838" "133219838" "subst" "0.00107424" "02330" "POLE_000040" "g.133219838C>T" "" "" "" "POLE(NM_006231.2):c.4523G>A (p.(Arg1508His)), POLE(NM_006231.3):c.4523G>A (p.R1508H), POLE(NM_006231.4):c.4523G>A (p.R1508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643252C>T" "" "likely benign" "" "0000294165" "0" "10" "12" "133219831" "133219831" "subst" "0.502723" "02330" "POLE_000039" "g.133219831T>C" "" "" "" "POLE(NM_006231.4):c.4530A>G (p.A1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643245T>C" "" "benign" "" "0000294166" "0" "10" "12" "133219592" "133219592" "subst" "0.00529594" "02330" "POLE_000037" "g.133219592C>A" "" "" "" "POLE(NM_006231.2):c.4552-10G>T (p.(=)), POLE(NM_006231.4):c.4552-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643006C>A" "" "benign" "" "0000294167" "0" "30" "12" "133219601" "133219601" "subst" "2.45785E-5" "02330" "POLE_000038" "g.133219601C>T" "" "" "" "POLE(NM_006231.4):c.4552-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643015C>T" "" "likely benign" "" "0000294168" "0" "10" "12" "133219489" "133219489" "subst" "0.000333806" "02330" "POLE_000036" "g.133219489G>C" "" "" "" "POLE(NM_006231.4):c.4645C>G (p.P1549A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132642903G>C" "" "benign" "" "0000294170" "0" "10" "12" "133218358" "133218358" "subst" "1.64814E-5" "02330" "POLE_000030" "g.133218358G>A" "" "" "" "POLE(NM_006231.3):c.5253C>T (p.A1751=), POLE(NM_006231.4):c.5253C>T (p.A1751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132641772G>A" "" "benign" "" "0000294171" "0" "30" "12" "133256109" "133256109" "subst" "8.12341E-6" "02330" "POLE_000098" "g.133256109G>A" "" "" "" "POLE(NM_006231.4):c.552C>T (p.S184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132679523G>A" "" "likely benign" "" "0000294172" "0" "10" "12" "133214695" "133214695" "subst" "0.00230256" "02330" "POLE_000028" "g.133214695T>G" "" "" "" "POLE(NM_006231.2):c.5583A>C (p.(Ser1861=)), POLE(NM_006231.3):c.5583A>C (p.S1861=), POLE(NM_006231.4):c.5583A>C (p.S1861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132638109T>G" "" "benign" "" "0000294173" "0" "10" "12" "133214596" "133214596" "subst" "0.0034634" "02330" "POLE_000026" "g.133214596G>A" "" "" "" "POLE(NM_006231.2):c.5678+4C>T (p.?), POLE(NM_006231.4):c.5678+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132638010G>A" "" "benign" "" "0000294174" "0" "10" "12" "133212582" "133212582" "subst" "0.154667" "02330" "POLE_000025" "g.133212582G>A" "" "" "" "POLE(NM_006231.4):c.5707C>T (p.L1903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132635996G>A" "" "benign" "" "0000294175" "0" "30" "12" "133254318" "133254319" "del" "0" "02330" "POLE_000096" "g.133254318_133254319del" "" "" "" "POLE(NM_006231.4):c.579-14_579-13delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132677732_132677733del" "" "likely benign" "" "0000294176" "0" "30" "12" "133212485" "133212485" "subst" "0.00257522" "02330" "POLE_000024" "g.133212485C>T" "" "" "" "POLE(NM_006231.3):c.5804G>A (p.C1935Y), POLE(NM_006231.4):c.5804G>A (p.C1935Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132635899C>T" "" "likely benign" "" "0000294177" "0" "30" "12" "133210761" "133210761" "subst" "0.000659062" "02330" "POLE_000021" "g.133210761T>C" "" "" "" "POLE(NM_006231.2):c.6004+11A>G (p.(=)), POLE(NM_006231.3):c.6004+11A>G, POLE(NM_006231.4):c.6004+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132634175T>C" "" "likely benign" "" "0000294178" "0" "10" "12" "133263825" "133263825" "subst" "0.479502" "02330" "POLE_000107" "g.133263825G>A" "" "" "" "POLE(NM_006231.4):c.62+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132687239G>A" "" "benign" "" "0000294179" "0" "10" "12" "133208979" "133208979" "subst" "0.642175" "02330" "POLE_000019" "g.133208979T>C" "" "" "" "POLE(NM_006231.4):c.6252A>G (p.S2084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132632393T>C" "" "benign" "" "0000294180" "0" "30" "12" "133208945" "133208945" "subst" "1.21877E-5" "02330" "POLE_000018" "g.133208945G>C" "" "" "" "POLE(NM_006231.4):c.6286C>G (p.L2096V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132632359G>C" "" "likely benign" "" "0000294181" "0" "10" "12" "133208886" "133208886" "subst" "0.492331" "02330" "POLE_000017" "g.133208886C>T" "" "" "" "POLE(NM_006231.4):c.6330+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132632300C>T" "" "benign" "" "0000294182" "0" "10" "12" "133208883" "133208883" "subst" "0.0034937" "02330" "POLE_000016" "g.133208883G>A" "" "" "" "POLE(NM_006231.2):c.6330+18C>T (p.(=)), POLE(NM_006231.4):c.6330+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132632297G>A" "" "benign" "" "0000294183" "0" "10" "12" "133208882" "133208882" "subst" "0.00307952" "02330" "POLE_000015" "g.133208882C>T" "" "" "" "POLE(NM_006231.2):c.6330+19G>A (p.(=)), POLE(NM_006231.3):c.6330+19G>A, POLE(NM_006231.4):c.6330+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132632296C>T" "" "benign" "" "0000294184" "0" "10" "12" "133202816" "133202816" "subst" "0.0148669" "02330" "POLE_000014" "g.133202816C>T" "" "" "" "POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K), POLE(NM_006231.4):c.6418G>A (p.E2140K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626230C>T" "" "benign" "" "0000294185" "0" "10" "12" "133202781" "133202781" "subst" "0.00180527" "02330" "POLE_000013" "g.133202781G>A" "" "" "" "POLE(NM_006231.2):c.6453C>T (p.(Tyr2151=)), POLE(NM_006231.3):c.6453C>T (p.Y2151=), POLE(NM_006231.4):c.6453C>T (p.Y2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626195G>A" "" "benign" "" "0000294186" "0" "30" "12" "133202758" "133202758" "subst" "4.11479E-5" "02330" "POLE_000012" "g.133202758C>T" "" "" "" "POLE(NM_006231.4):c.6476G>A (p.R2159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626172C>T" "" "likely benign" "" "0000294187" "0" "10" "12" "133202740" "133202740" "subst" "0.00585731" "02330" "POLE_000011" "g.133202740C>T" "" "" "" "POLE(NM_006231.2):c.6494G>A (p.(Arg2165His)), POLE(NM_006231.4):c.6494G>A (p.R2165H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626154C>T" "" "benign" "" "0000294188" "0" "10" "12" "133202215" "133202215" "subst" "0.37538" "02330" "POLE_000010" "g.133202215G>A" "" "" "" "POLE(NM_006231.4):c.6657+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132625629G>A" "" "benign" "" "0000294189" "0" "10" "12" "133201563" "133201563" "subst" "0.00118887" "02330" "POLE_000009" "g.133201563G>A" "" "" "" "POLE(NM_006231.3):c.6675C>T (p.R2225=), POLE(NM_006231.4):c.6675C>T (p.R2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624977G>A" "" "benign" "" "0000294190" "0" "30" "12" "133201508" "133201508" "subst" "6.50851E-5" "02330" "POLE_000007" "g.133201508G>A" "" "" "" "POLE(NM_006231.4):c.6730C>T (p.L2244F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624922G>A" "" "likely benign" "" "0000294191" "0" "30" "12" "133201381" "133201381" "subst" "0.00486173" "02330" "POLE_000006" "g.133201381T>A" "" "" "" "POLE(NM_006231.3):c.6763A>T (p.I2255F), POLE(NM_006231.4):c.6763A>T (p.I2255F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624795T>A" "" "likely benign" "" "0000294192" "0" "10" "12" "133201327" "133201327" "subst" "0.00119215" "02330" "POLE_000005" "g.133201327T>A" "" "" "" "POLE(NM_006231.4):c.6817A>T (p.T2273S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624741T>A" "" "benign" "" "0000294193" "0" "30" "12" "133201324" "133201324" "subst" "0.000854339" "02330" "POLE_000004" "g.133201324G>C" "" "" "" "POLE(NM_006231.4):c.6820C>G (p.L2274V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624738G>C" "" "likely benign" "" "0000294194" "0" "30" "12" "133254174" "133254174" "subst" "0" "02330" "POLE_000095" "g.133254174T>G" "" "" "" "POLE(NM_006231.4):c.710A>C (p.K237T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132677588T>G" "" "likely benign" "" "0000294195" "0" "30" "12" "133253976" "133253976" "subst" "2.43639E-5" "02330" "POLE_000094" "g.133253976G>C" "" "" "" "POLE(NM_006231.4):c.774C>G (p.T258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132677390G>C" "" "likely benign" "" "0000294196" "0" "30" "12" "133253974" "133253974" "subst" "0.00519404" "02330" "POLE_000093" "g.133253974C>T" "" "" "" "POLE(NM_006231.2):c.776G>A (p.(Arg259His)), POLE(NM_006231.3):c.776G>A (p.R259H), POLE(NM_006231.4):c.776G>A (p.R259H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132677388C>T" "" "likely benign" "" "0000294197" "0" "30" "12" "133253971" "133253971" "subst" "0.000836501" "02330" "POLE_000092" "g.133253971C>T" "" "" "" "POLE(NM_006231.2):c.779G>A (p.(Arg260Gln)), POLE(NM_006231.4):c.779G>A (p.R260Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132677385C>T" "" "likely benign" "" "0000294198" "0" "10" "12" "133253195" "133253195" "subst" "0.000804152" "02330" "POLE_000090" "g.133253195G>A" "" "" "" "POLE(NM_006231.4):c.846C>T (p.P282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132676609G>A" "" "benign" "" "0000294199" "0" "30" "12" "133257838" "133257838" "subst" "1.62468E-5" "02330" "POLE_000106" "g.133257838C>T" "" "" "" "POLE(NM_006231.4):c.90G>A (p.S30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681252C>T" "" "likely benign" "" "0000294200" "0" "10" "12" "133252796" "133252796" "subst" "0.623465" "02330" "POLE_000088" "g.133252796C>G" "" "" "" "POLE(NM_006231.4):c.910-6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132676210C>G" "" "benign" "" "0000294201" "0" "10" "12" "133257837" "133257837" "subst" "0.012319" "02330" "POLE_000105" "g.133257837C>A" "" "" "" "POLE(NM_006231.2):c.91G>T (p.(Ala31Ser)), POLE(NM_006231.3):c.91G>T (p.A31S), POLE(NM_006231.4):c.91G>T (p.A31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681251C>A" "" "benign" "" "0000297212" "0" "50" "12" "133249383" "133249383" "subst" "8.13729E-6" "02325" "POLE_000078" "g.133249383T>C" "" "" "" "POLE(NM_006231.3):c.1516A>G (p.M506V), POLE(NM_006231.4):c.1516A>G (p.M506V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132672797T>C" "" "VUS" "" "0000297213" "0" "30" "12" "133235911" "133235911" "subst" "0.000134471" "02325" "POLE_000063" "g.133235911C>T" "" "" "" "POLE(NM_006231.3):c.3245G>A (p.R1082H), POLE(NM_006231.4):c.3245G>A (p.R1082H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132659325C>T" "" "likely benign" "" "0000297214" "0" "50" "12" "133225609" "133225609" "subst" "0.000110158" "02325" "POLE_000050" "g.133225609C>G" "" "" "" "POLE(NM_006231.4):c.4055G>C (p.G1352A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132649023C>G" "" "VUS" "" "0000297215" "0" "50" "12" "133219841" "133219841" "subst" "4.12681E-6" "02325" "POLE_000041" "g.133219841T>C" "" "" "" "POLE(NM_006231.4):c.4520A>G (p.Q1507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643255T>C" "" "VUS" "" "0000297217" "0" "30" "12" "133218812" "133218812" "subst" "0.000330907" "02325" "POLE_000033" "g.133218812G>A" "" "" "" "POLE(NM_006231.4):c.5124C>T (p.F1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132642226G>A" "" "likely benign" "" "0000297218" "0" "30" "12" "133214619" "133214619" "subst" "0.000479472" "02325" "POLE_000027" "g.133214619C>T" "" "" "" "POLE(NM_006231.3):c.5659G>A (p.V1887M), POLE(NM_006231.4):c.5659G>A (p.V1887M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132638033C>T" "" "likely benign" "" "0000297219" "0" "30" "12" "133201381" "133201381" "subst" "0.00486173" "02325" "POLE_000006" "g.133201381T>A" "" "" "" "POLE(NM_006231.3):c.6763A>T (p.I2255F), POLE(NM_006231.4):c.6763A>T (p.I2255F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624795T>A" "" "likely benign" "" "0000298997" "0" "10" "12" "133252693" "133252693" "subst" "0.0019584" "02329" "POLE_000086" "g.133252693T>C" "" "" "" "POLE(NM_006231.2):c.1007A>G (p.(Asn336Ser)), POLE(NM_006231.4):c.1007A>G (p.N336S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132676107T>C" "" "benign" "" "0000298998" "0" "30" "12" "133252338" "133252338" "subst" "1.21823E-5" "02329" "POLE_000085" "g.133252338G>A" "" "" "" "POLE(NM_006231.4):c.1089C>T (p.N363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132675752G>A" "" "likely benign" "" "0000298999" "0" "10" "12" "133249753" "133249753" "subst" "0.00167765" "02329" "POLE_000079" "g.133249753G>A" "" "" "" "POLE(NM_006231.2):c.1470C>T (p.(Asp490=)), POLE(NM_006231.3):c.1470C>T (p.D490=), POLE(NM_006231.4):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673167G>A" "" "benign" "" "0000299000" "0" "30" "12" "133249311" "133249311" "subst" "1.2222E-5" "02329" "POLE_000077" "g.133249311C>T" "" "" "" "POLE(NM_006231.4):c.1588G>A (p.D530N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132672725C>T" "" "likely benign" "" "0000299001" "0" "30" "12" "133248791" "133248791" "subst" "0" "02329" "POLE_000127" "g.133248791T>A" "" "" "" "POLE(NM_006231.4):c.1794+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132672205T>A" "" "likely benign" "" "0000299002" "0" "10" "12" "133244242" "133244242" "subst" "0.0119132" "02329" "POLE_000124" "g.133244242C>T" "" "" "" "POLE(NM_006231.2):c.2174-8G>A (p.(=)), POLE(NM_006231.4):c.2174-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132667656C>T" "" "benign" "" "0000299003" "0" "10" "12" "133242049" "133242049" "subst" "0.0051343" "02329" "POLE_000122" "g.133242049T>C" "" "" "" "POLE(NM_006231.2):c.2320-13A>G (p.(=)), POLE(NM_006231.4):c.2320-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132665463T>C" "" "benign" "" "0000299004" "0" "10" "12" "133242016" "133242016" "subst" "0.0237813" "02329" "POLE_000121" "g.133242016C>T" "" "" "" "POLE(NM_006231.2):c.2340G>A (p.(Ser780=)), POLE(NM_006231.4):c.2340G>A (p.S780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132665430C>T" "" "benign" "" "0000299005" "0" "10" "12" "133241878" "133241878" "subst" "0.000754277" "02329" "POLE_000118" "g.133241878G>A" "" "" "" "POLE(NM_006231.4):c.2468+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132665292G>A" "" "benign" "" "0000299007" "0" "30" "12" "133237766" "133237767" "del" "0" "02329" "POLE_000112" "g.133237766_133237767del" "" "" "" "POLE(NM_006231.2):c.2865-5_2865-4del (p.?), POLE(NM_006231.4):c.2865-5_2865-4delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661180_132661181del" "" "likely benign" "" "0000299008" "0" "30" "12" "133237765" "133237767" "del" "0" "02329" "POLE_000113" "g.133237765_133237767del" "" "" "" "POLE(NM_006231.4):c.2865-6_2865-4delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661179_132661181del" "" "likely benign" "" "0000299009" "0" "30" "12" "133235911" "133235911" "subst" "0.000134471" "02329" "POLE_000063" "g.133235911C>T" "" "" "" "POLE(NM_006231.3):c.3245G>A (p.R1082H), POLE(NM_006231.4):c.3245G>A (p.R1082H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132659325C>T" "" "likely benign" "" "0000299010" "0" "30" "12" "133235886" "133235886" "subst" "8.19303E-6" "02329" "POLE_000061" "g.133235886C>T" "" "" "" "POLE(NM_006231.4):c.3270G>A (p.T1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132659300C>T" "" "likely benign" "" "0000299011" "0" "50" "12" "133234467" "133234468" "del" "0" "02329" "POLE_000059" "g.133234467_133234468del" "" "" "" "POLE(NM_006231.4):c.3365_3366delTT (p.F1122*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132657881_132657882del" "" "VUS" "" "0000299012" "0" "30" "12" "133226407" "133226407" "subst" "2.03155E-5" "02329" "POLE_000055" "g.133226407G>A" "" "" "" "POLE(NM_006231.3):c.3651C>T (p.L1217=), POLE(NM_006231.4):c.3651C>T (p.L1217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132649821G>A" "" "likely benign" "" "0000299013" "0" "30" "12" "133226311" "133226311" "subst" "0.000211289" "02329" "POLE_000053" "g.133226311C>T" "" "" "" "POLE(NM_006231.4):c.3747G>A (p.V1249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132649725C>T" "" "likely benign" "" "0000299014" "0" "10" "12" "133220454" "133220454" "subst" "0.00358219" "02329" "POLE_000047" "g.133220454G>A" "" "" "" "POLE(NM_006231.2):c.4259C>T (p.(Ala1420Val)), POLE(NM_006231.3):c.4259C>T (p.A1420V), POLE(NM_006231.4):c.4259C>T (p.A1420V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643868G>A" "" "benign" "" "0000299015" "0" "30" "12" "133220418" "133220418" "subst" "0.0238295" "02329" "POLE_000046" "g.133220418G>A" "" "" "" "POLE(NM_006231.2):c.4290+5C>T (p.?), POLE(NM_006231.3):c.4290+5C>T, POLE(NM_006231.4):c.4290+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643832G>A" "" "likely benign" "" "0000299016" "0" "50" "12" "133220109" "133220110" "del" "0" "02329" "POLE_000044" "g.133220109_133220110del" "" "" "" "POLE(NM_006231.4):c.4337_4338delTG (p.V1446Gfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643523_132643524del" "" "VUS" "" "0000299017" "0" "30" "12" "133220025" "133220025" "subst" "4.06078E-6" "02329" "POLE_000043" "g.133220025C>T" "" "" "" "POLE(NM_006231.4):c.4412G>A (p.R1471H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643439C>T" "" "likely benign" "" "0000299018" "0" "30" "12" "133219838" "133219838" "subst" "0.00107424" "02329" "POLE_000040" "g.133219838C>T" "" "" "" "POLE(NM_006231.2):c.4523G>A (p.(Arg1508His)), POLE(NM_006231.3):c.4523G>A (p.R1508H), POLE(NM_006231.4):c.4523G>A (p.R1508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643252C>T" "" "likely benign" "" "0000299019" "0" "10" "12" "133219592" "133219592" "subst" "0.00529594" "02329" "POLE_000037" "g.133219592C>A" "" "" "" "POLE(NM_006231.2):c.4552-10G>T (p.(=)), POLE(NM_006231.4):c.4552-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643006C>A" "" "benign" "" "0000299021" "0" "10" "12" "133218801" "133218801" "subst" "0.000762722" "02329" "POLE_000032" "g.133218801G>A" "" "" "" "POLE(NM_006231.4):c.5135C>T (p.A1712V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132642215G>A" "" "benign" "" "0000299022" "0" "30" "12" "133218746" "133218746" "subst" "0.000233593" "02329" "POLE_000031" "g.133218746T>C" "" "" "" "POLE(NM_006231.2):c.5173+17A>G (p.(=)), POLE(NM_006231.3):c.5173+17A>G, POLE(NM_006231.4):c.5173+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132642160T>C" "" "likely benign" "" "0000299023" "0" "10" "12" "133214708" "133214708" "subst" "0.000666309" "02329" "POLE_000029" "g.133214708T>C" "" "" "" "POLE(NM_006231.4):c.5570A>G (p.K1857R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132638122T>C" "" "benign" "" "0000299024" "0" "30" "12" "133256100" "133256100" "subst" "0.000195033" "02329" "POLE_000097" "g.133256100G>A" "" "" "" "POLE(NM_006231.4):c.561C>T (p.Y187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132679514G>A" "" "likely benign" "" "0000299025" "0" "10" "12" "133214596" "133214596" "subst" "0.0034634" "02329" "POLE_000026" "g.133214596G>A" "" "" "" "POLE(NM_006231.2):c.5678+4C>T (p.?), POLE(NM_006231.4):c.5678+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132638010G>A" "" "benign" "" "0000299026" "0" "30" "12" "133210968" "133210968" "subst" "3.71226E-5" "02329" "POLE_000023" "g.133210968T>C" "" "" "" "POLE(NM_006231.4):c.5812-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132634382T>C" "" "likely benign" "" "0000299027" "0" "30" "12" "133210761" "133210761" "subst" "0.000659062" "02329" "POLE_000021" "g.133210761T>C" "" "" "" "POLE(NM_006231.2):c.6004+11A>G (p.(=)), POLE(NM_006231.3):c.6004+11A>G, POLE(NM_006231.4):c.6004+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132634175T>C" "" "likely benign" "" "0000299028" "0" "50" "12" "133210767" "133210767" "subst" "0.000297534" "02329" "POLE_000022" "g.133210767C>A" "" "" "" "POLE(NM_006231.4):c.6004+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132634181C>A" "" "VUS" "" "0000299029" "0" "10" "12" "133208883" "133208883" "subst" "0.0034937" "02329" "POLE_000016" "g.133208883G>A" "" "" "" "POLE(NM_006231.2):c.6330+18C>T (p.(=)), POLE(NM_006231.4):c.6330+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132632297G>A" "" "benign" "" "0000299030" "0" "10" "12" "133202816" "133202816" "subst" "0.0148669" "02329" "POLE_000014" "g.133202816C>T" "" "" "" "POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K), POLE(NM_006231.4):c.6418G>A (p.E2140K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626230C>T" "" "benign" "" "0000299031" "0" "30" "12" "133202781" "133202781" "subst" "0.00180527" "02329" "POLE_000013" "g.133202781G>A" "" "" "" "POLE(NM_006231.2):c.6453C>T (p.(Tyr2151=)), POLE(NM_006231.3):c.6453C>T (p.Y2151=), POLE(NM_006231.4):c.6453C>T (p.Y2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626195G>A" "" "likely benign" "" "0000299032" "0" "10" "12" "133202740" "133202740" "subst" "0.00585731" "02329" "POLE_000011" "g.133202740C>T" "" "" "" "POLE(NM_006231.2):c.6494G>A (p.(Arg2165His)), POLE(NM_006231.4):c.6494G>A (p.R2165H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626154C>T" "" "benign" "" "0000299033" "0" "30" "12" "133201563" "133201563" "subst" "0.00118887" "02329" "POLE_000009" "g.133201563G>A" "" "" "" "POLE(NM_006231.3):c.6675C>T (p.R2225=), POLE(NM_006231.4):c.6675C>T (p.R2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624977G>A" "" "likely benign" "" "0000299034" "0" "30" "12" "133201524" "133201524" "subst" "0.000357878" "02329" "POLE_000008" "g.133201524G>A" "" "" "" "POLE(NM_006231.3):c.6714C>T (p.C2238=), POLE(NM_006231.4):c.6714C>T (p.C2238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624938G>A" "" "likely benign" "" "0000299035" "0" "10" "12" "133201381" "133201381" "subst" "0.00486173" "02329" "POLE_000006" "g.133201381T>A" "" "" "" "POLE(NM_006231.3):c.6763A>T (p.I2255F), POLE(NM_006231.4):c.6763A>T (p.I2255F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624795T>A" "" "benign" "" "0000299036" "0" "30" "12" "133201324" "133201324" "subst" "0.000854339" "02329" "POLE_000004" "g.133201324G>C" "" "" "" "POLE(NM_006231.4):c.6820C>G (p.L2274V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624738G>C" "" "likely benign" "" "0000299037" "0" "30" "12" "133253974" "133253974" "subst" "0.00519404" "02329" "POLE_000093" "g.133253974C>T" "" "" "" "POLE(NM_006231.2):c.776G>A (p.(Arg259His)), POLE(NM_006231.3):c.776G>A (p.R259H), POLE(NM_006231.4):c.776G>A (p.R259H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132677388C>T" "" "likely benign" "" "0000299038" "0" "30" "12" "133253953" "133253953" "subst" "0" "02329" "POLE_000091" "g.133253953C>T" "" "" "" "POLE(NM_006231.4):c.797G>A (p.R266Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132677367C>T" "" "likely benign" "" "0000299039" "0" "70" "12" "133253191" "133253191" "subst" "3.65506E-5" "02329" "POLE_000089" "g.133253191T>C" "" "" "" "POLE(NM_006231.4):c.850A>G (p.K284E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132676605T>C" "" "likely pathogenic" "" "0000299040" "0" "10" "12" "133257837" "133257837" "subst" "0.012319" "02329" "POLE_000105" "g.133257837C>A" "" "" "" "POLE(NM_006231.2):c.91G>T (p.(Ala31Ser)), POLE(NM_006231.3):c.91G>T (p.A31S), POLE(NM_006231.4):c.91G>T (p.A31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681251C>A" "" "benign" "" "0000301105" "0" "30" "12" "133249243" "133249243" "subst" "0" "02326" "POLE_000075" "g.133249243G>A" "" "" "" "POLE(NM_006231.3):c.1656C>T (p.F552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132672657G>A" "" "likely benign" "" "0000301106" "0" "30" "12" "133226407" "133226407" "subst" "2.03155E-5" "02326" "POLE_000055" "g.133226407G>A" "" "" "" "POLE(NM_006231.3):c.3651C>T (p.L1217=), POLE(NM_006231.4):c.3651C>T (p.L1217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132649821G>A" "" "likely benign" "" "0000301107" "0" "10" "12" "133220418" "133220418" "subst" "0.0238295" "02326" "POLE_000046" "g.133220418G>A" "" "" "" "POLE(NM_006231.2):c.4290+5C>T (p.?), POLE(NM_006231.3):c.4290+5C>T, POLE(NM_006231.4):c.4290+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643832G>A" "" "benign" "" "0000301108" "0" "30" "12" "133218746" "133218746" "subst" "0.000233593" "02326" "POLE_000031" "g.133218746T>C" "" "" "" "POLE(NM_006231.2):c.5173+17A>G (p.(=)), POLE(NM_006231.3):c.5173+17A>G, POLE(NM_006231.4):c.5173+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132642160T>C" "" "likely benign" "" "0000301109" "0" "30" "12" "133212485" "133212485" "subst" "0.00257522" "02326" "POLE_000024" "g.133212485C>T" "" "" "" "POLE(NM_006231.3):c.5804G>A (p.C1935Y), POLE(NM_006231.4):c.5804G>A (p.C1935Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132635899C>T" "" "likely benign" "" "0000301110" "0" "10" "12" "133202816" "133202816" "subst" "0.0148669" "02326" "POLE_000014" "g.133202816C>T" "" "" "" "POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K), POLE(NM_006231.4):c.6418G>A (p.E2140K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626230C>T" "" "benign" "" "0000301111" "0" "30" "12" "133253974" "133253974" "subst" "0.00519404" "02326" "POLE_000093" "g.133253974C>T" "" "" "" "POLE(NM_006231.2):c.776G>A (p.(Arg259His)), POLE(NM_006231.3):c.776G>A (p.R259H), POLE(NM_006231.4):c.776G>A (p.R259H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132677388C>T" "" "likely benign" "" "0000301112" "0" "30" "12" "133257837" "133257837" "subst" "0.012319" "02326" "POLE_000105" "g.133257837C>A" "" "" "" "POLE(NM_006231.2):c.91G>T (p.(Ala31Ser)), POLE(NM_006231.3):c.91G>T (p.A31S), POLE(NM_006231.4):c.91G>T (p.A31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681251C>A" "" "likely benign" "" "0000304895" "0" "50" "12" "133198452" "133198452" "subst" "5.7113E-5" "01943" "P2RX2_000002" "g.133198452G>A" "" "" "" "P2RX2(NM_170683.3):c.1388G>A (p.R463Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132621866G>A" "" "VUS" "" "0000304896" "0" "30" "12" "133196062" "133196062" "subst" "0.00156313" "01943" "P2RX2_000001" "g.133196062G>A" "" "" "" "P2RX2(NM_001282165.1):c.211G>A (p.E71K), P2RX2(NM_170682.4):c.211G>A (p.(Glu71Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132619476G>A" "" "likely benign" "" "0000306063" "0" "30" "12" "133250173" "133250173" "subst" "0.00103387" "01943" "POLE_000082" "g.133250173C>T" "" "" "" "POLE(NM_006231.2):c.1347G>A (p.(Thr449=)), POLE(NM_006231.3):c.1347G>A (p.T449=), POLE(NM_006231.4):c.1347G>A (p.T449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673587C>T" "" "likely benign" "" "0000306064" "0" "50" "12" "133249241" "133249241" "subst" "1.63159E-5" "01943" "POLE_000074" "g.133249241C>T" "" "" "" "POLE(NM_006231.3):c.1658G>A (p.R553H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132672655C>T" "" "VUS" "" "0000306065" "0" "30" "12" "133263886" "133263886" "subst" "0.0025492" "01943" "POLE_000108" "g.133263886C>G" "" "" "" "POLE(NM_006231.2):c.16G>C (p.(Gly6Arg)), POLE(NM_006231.3):c.16G>C (p.G6R), POLE(NM_006231.4):c.16G>C (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132687300C>G" "" "likely benign" "" "0000306066" "0" "50" "12" "133248880" "133248880" "subst" "0" "01943" "POLE_000129" "g.133248880T>C" "" "" "" "POLE(NM_006231.3):c.1715A>G (p.Q572R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132672294T>C" "" "VUS" "" "0000306067" "0" "50" "12" "133248857" "133248857" "subst" "0.000142123" "01943" "POLE_000128" "g.133248857G>T" "" "" "" "POLE(NM_006231.3):c.1738C>A (p.H580N), POLE(NM_006231.4):c.1738C>A (p.H580N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132672271G>T" "" "VUS" "" "0000306068" "0" "50" "12" "133242015" "133242017" "del" "0" "01943" "POLE_000120" "g.133242015_133242017del" "" "" "" "POLE(NM_006231.3):c.2343_2345delGGC (p.A782del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132665429_132665431del" "" "VUS" "" "0000306069" "0" "30" "12" "133241947" "133241947" "subst" "2.43756E-5" "01943" "POLE_000119" "g.133241947C>T" "" "" "" "POLE(NM_006231.3):c.2409G>A (p.S803=), POLE(NM_006231.4):c.2409G>A (p.S803=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132665361C>T" "" "likely benign" "" "0000306070" "0" "50" "12" "133240657" "133240657" "subst" "2.43641E-5" "01943" "POLE_000114" "g.133240657G>A" "" "" "" "POLE(NM_006231.3):c.2639C>T (p.T880M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132664071G>A" "" "VUS" "" "0000306071" "0" "30" "12" "133237641" "133237641" "subst" "0.000333017" "01943" "POLE_000067" "g.133237641C>T" "" "" "" "POLE(NM_006231.3):c.2974G>A (p.A992T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132661055C>T" "" "likely benign" "" "0000306072" "0" "30" "12" "133233983" "133233983" "subst" "2.03072E-5" "01943" "POLE_000057" "g.133233983C>T" "" "" "" "POLE(NM_006231.3):c.3411G>A (p.L1137=), POLE(NM_006231.4):c.3411G>A (p.L1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132657397C>T" "" "likely benign" "" "0000306073" "0" "50" "12" "133226040" "133226040" "subst" "5.46903E-5" "01943" "POLE_000052" "g.133226040C>T" "" "" "" "POLE(NM_006231.3):c.3857G>A (p.R1286H), POLE(NM_006231.4):c.3857G>A (p.(Arg1286His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132649454C>T" "" "VUS" "" "0000306074" "0" "30" "12" "133220454" "133220454" "subst" "0.00358219" "01943" "POLE_000047" "g.133220454G>A" "" "" "" "POLE(NM_006231.2):c.4259C>T (p.(Ala1420Val)), POLE(NM_006231.3):c.4259C>T (p.A1420V), POLE(NM_006231.4):c.4259C>T (p.A1420V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643868G>A" "" "likely benign" "" "0000306075" "0" "30" "12" "133219838" "133219838" "subst" "0.00107424" "01943" "POLE_000040" "g.133219838C>T" "" "" "" "POLE(NM_006231.2):c.4523G>A (p.(Arg1508His)), POLE(NM_006231.3):c.4523G>A (p.R1508H), POLE(NM_006231.4):c.4523G>A (p.R1508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643252C>T" "" "likely benign" "" "0000306076" "0" "30" "12" "133214619" "133214619" "subst" "0.000479472" "01943" "POLE_000027" "g.133214619C>T" "" "" "" "POLE(NM_006231.3):c.5659G>A (p.V1887M), POLE(NM_006231.4):c.5659G>A (p.V1887M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132638033C>T" "" "likely benign" "" "0000306077" "0" "30" "12" "133202781" "133202781" "subst" "0.00180527" "01943" "POLE_000013" "g.133202781G>A" "" "" "" "POLE(NM_006231.2):c.6453C>T (p.(Tyr2151=)), POLE(NM_006231.3):c.6453C>T (p.Y2151=), POLE(NM_006231.4):c.6453C>T (p.Y2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626195G>A" "" "likely benign" "" "0000306078" "0" "30" "12" "133201563" "133201563" "subst" "0.00118887" "01943" "POLE_000009" "g.133201563G>A" "" "" "" "POLE(NM_006231.3):c.6675C>T (p.R2225=), POLE(NM_006231.4):c.6675C>T (p.R2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624977G>A" "" "likely benign" "" "0000306079" "0" "30" "12" "133201381" "133201381" "subst" "0.00486173" "01943" "POLE_000006" "g.133201381T>A" "" "" "" "POLE(NM_006231.3):c.6763A>T (p.I2255F), POLE(NM_006231.4):c.6763A>T (p.I2255F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132624795T>A" "" "likely benign" "" "0000323246" "0" "30" "12" "133202740" "133202740" "subst" "0.00585731" "01804" "POLE_000011" "g.133202740C>T" "" "" "" "POLE(NM_006231.2):c.6494G>A (p.(Arg2165His)), POLE(NM_006231.4):c.6494G>A (p.R2165H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132626154C>T" "" "likely benign" "" "0000323247" "0" "50" "12" "133250183" "133250183" "subst" "0.00027313" "01804" "POLE_000083" "g.133250183C>T" "" "" "" "POLE(NM_006231.2):c.1337G>A (p.(Arg446Gln)), POLE(NM_006231.3):c.1337G>A (p.R446Q), POLE(NM_006231.4):c.1337G>A (p.R446Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673597C>T" "" "VUS" "" "0000323248" "0" "50" "12" "133257789" "133257789" "subst" "0.000783769" "01804" "POLE_000104" "g.133257789G>A" "" "" "" "POLE(NM_006231.2):c.139C>T (p.(Arg47Trp)), POLE(NM_006231.3):c.139C>T (p.R47W), POLE(NM_006231.4):c.139C>T (p.R47W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681203G>A" "" "VUS" "" "0000323249" "0" "30" "12" "133263886" "133263886" "subst" "0.0025492" "01804" "POLE_000108" "g.133263886C>G" "" "" "" "POLE(NM_006231.2):c.16G>C (p.(Gly6Arg)), POLE(NM_006231.3):c.16G>C (p.G6R), POLE(NM_006231.4):c.16G>C (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132687300C>G" "" "likely benign" "" "0000337146" "0" "10" "12" "133202215" "133202215" "subst" "0.37538" "02327" "POLE_000010" "g.133202215G>A" "" "" "" "POLE(NM_006231.4):c.6657+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132625629G>A" "" "benign" "" "0000337147" "0" "10" "12" "133202428" "133202428" "subst" "0" "02327" "POLE_000109" "g.133202428G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132625842G>A" "" "benign" "" "0000337148" "0" "10" "12" "133208886" "133208886" "subst" "0.492331" "02327" "POLE_000017" "g.133208886C>T" "" "" "" "POLE(NM_006231.4):c.6330+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132632300C>T" "" "benign" "" "0000337149" "0" "10" "12" "133233705" "133233705" "subst" "0.970992" "02327" "POLE_000056" "g.133233705T>C" "" "" "" "POLE(NM_006231.4):c.3582+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132657119T>C" "" "benign" "" "0000337150" "0" "10" "12" "133252796" "133252796" "subst" "0.623465" "02327" "POLE_000088" "g.133252796C>G" "" "" "" "POLE(NM_006231.4):c.910-6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132676210C>G" "" "benign" "" "0000337151" "0" "10" "12" "133254083" "133254083" "subst" "0" "02327" "POLE_000131" "g.133254083T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132677497T>C" "" "benign" "" "0000337152" "0" "10" "12" "133263825" "133263825" "subst" "0.479502" "02327" "POLE_000107" "g.133263825G>A" "" "" "" "POLE(NM_006231.4):c.62+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132687239G>A" "" "benign" "" "0000339071" "0" "30" "12" "133198343" "133198343" "subst" "1.68224E-5" "02327" "P2RX2_000004" "g.133198343C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132621757C>T" "" "likely benign" "" "0000339400" "0" "10" "12" "133250118" "133250118" "subst" "0.498364" "02327" "POLE_000130" "g.133250118C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673532C>T" "" "benign" "" "0000340627" "0" "10" "12" "133219831" "133219831" "subst" "0.502723" "02327" "POLE_000039" "g.133219831T>C" "" "" "" "POLE(NM_006231.4):c.4530A>G (p.A1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132643245T>C" "" "benign" "" "0000340953" "0" "10" "12" "133208979" "133208979" "subst" "0.642175" "02327" "POLE_000019" "g.133208979T>C" "" "" "" "POLE(NM_006231.4):c.6252A>G (p.S2084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132632393T>C" "" "benign" "" "0000340987" "0" "10" "12" "133236000" "133236000" "subst" "0.501925" "02327" "POLE_000065" "g.133236000C>T" "" "" "" "POLE(NM_006231.4):c.3156G>A (p.T1052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132659414C>T" "" "benign" "" "0000341372" "0" "10" "12" "133257837" "133257837" "subst" "0.012319" "02327" "POLE_000105" "g.133257837C>A" "" "" "" "POLE(NM_006231.2):c.91G>T (p.(Ala31Ser)), POLE(NM_006231.3):c.91G>T (p.A31S), POLE(NM_006231.4):c.91G>T (p.A31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681251C>A" "" "benign" "" "0000342914" "0" "30" "12" "133250183" "133250183" "subst" "0.00027313" "02327" "POLE_000083" "g.133250183C>T" "" "" "" "POLE(NM_006231.2):c.1337G>A (p.(Arg446Gln)), POLE(NM_006231.3):c.1337G>A (p.R446Q), POLE(NM_006231.4):c.1337G>A (p.R446Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673597C>T" "" "likely benign" "" "0000344340" "0" "50" "12" "133197647" "133197647" "subst" "4.06078E-6" "02327" "P2RX2_000003" "g.133197647T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132621061T>C" "" "VUS" "" "0000347164" "0" "90" "12" "133250250" "133250250" "subst" "0" "02327" "POLE_000001" "g.133250250G>C" "" "" "" "POLE(NM_006231.4):c.1270C>G (p.L424V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132673664G>C" "" "pathogenic" "" "0000369642" "0" "90" "12" "133263865" "133263865" "subst" "0" "02509" "POLE_000132" "g.133263865G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.132687279G>A" "" "pathogenic" "" "0000408013" "10" "90" "12" "133253208" "133253208" "subst" "0" "02583" "POLE_000133" "g.133253208G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132676622G>T" "" "pathogenic" "" "0000470390" "0" "50" "12" "133253197" "133253197" "subst" "5.27987E-5" "02765" "POLE_000134" "g.133253197G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.132676611G>A" "" "VUS" "ACMG" "0000547150" "0" "30" "12" "133195407" "133195407" "subst" "0" "01943" "POLE_000135" "g.133195407C>T" "" "" "" "P2RX2(NM_001282165.1):c.5C>T (p.A2V, p.(Ala2Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132618821C>T" "" "likely benign" "" "0000547151" "0" "10" "12" "133197094" "133197094" "subst" "0.0017553" "01943" "POLE_000136" "g.133197094C>T" "" "" "" "P2RX2(NM_001282164.1):c.592C>T (p.P198S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132620508C>T" "" "benign" "" "0000547152" "0" "50" "12" "133197103" "133197103" "subst" "4.06362E-5" "01943" "POLE_000137" "g.133197103C>T" "" "" "" "P2RX2(NM_001282164.1):c.601C>T (p.P201S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132620517C>T" "" "VUS" "" "0000547153" "0" "30" "12" "133197157" "133197157" "subst" "8.16127E-5" "01943" "POLE_000138" "g.133197157G>A" "" "" "" "P2RX2(NM_001282164.1):c.655G>A (p.A219T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132620571G>A" "" "likely benign" "" "0000547154" "0" "30" "12" "133197633" "133197633" "subst" "4.06075E-6" "02327" "POLE_000139" "g.133197633T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132621047T>C" "" "likely benign" "" "0000547155" "0" "30" "12" "133197643" "133197643" "subst" "0.000454804" "01943" "POLE_000140" "g.133197643G>A" "" "" "" "P2RX2(NM_001282165.1):c.831G>A (p.S277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132621057G>A" "" "likely benign" "" "0000547156" "0" "50" "12" "133197899" "133197899" "subst" "0.00023556" "01943" "POLE_000141" "g.133197899G>A" "" "" "" "P2RX2(NM_001282165.1):c.964G>A (p.G322R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132621313G>A" "" "VUS" "" "0000547157" "0" "50" "12" "133198121" "133198121" "subst" "1.38459E-5" "02327" "POLE_000142" "g.133198121G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132621535G>A" "" "VUS" "" "0000547158" "0" "30" "12" "133198219" "133198219" "subst" "5.70567E-5" "01943" "POLE_000143" "g.133198219C>T" "" "" "" "P2RX2(NM_170683.3):c.1155C>T (p.C385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132621633C>T" "" "likely benign" "" "0000547159" "0" "10" "12" "133198474" "133198474" "subst" "0.000712512" "01943" "POLE_000144" "g.133198474T>A" "" "" "" "P2RX2(NM_170683.3):c.1410T>A (p.P470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132621888T>A" "" "benign" "" "0000547160" "0" "30" "12" "133201349" "133201349" "subst" "0.000150663" "02330" "POLE_000145" "g.133201349G>A" "" "" "" "POLE(NM_006231.4):c.6795C>T (p.Y2265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132624763G>A" "" "likely benign" "" "0000547161" "0" "30" "12" "133201524" "133201524" "subst" "0.000357878" "01943" "POLE_000008" "g.133201524G>A" "" "" "" "POLE(NM_006231.3):c.6714C>T (p.C2238=), POLE(NM_006231.4):c.6714C>T (p.C2238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132624938G>A" "" "likely benign" "" "0000547162" "0" "30" "12" "133201564" "133201564" "subst" "6.51476E-5" "01943" "POLE_000146" "g.133201564C>T" "" "" "" "POLE(NM_006231.3):c.6674G>A (p.R2225H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132624978C>T" "" "likely benign" "" "0000547163" "0" "30" "12" "133201587" "133201587" "subst" "6.94791E-5" "02330" "POLE_000147" "g.133201587G>T" "" "" "" "POLE(NM_006231.3):c.6658-7C>A, POLE(NM_006231.4):c.6658-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132625001G>T" "" "likely benign" "" "0000547164" "0" "30" "12" "133201598" "133201598" "subst" "2.06266E-5" "02330" "POLE_000148" "g.133201598C>T" "" "" "" "POLE(NM_006231.4):c.6658-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132625012C>T" "" "likely benign" "" "0000547165" "0" "30" "12" "133202349" "133202349" "subst" "0.000201782" "02329" "POLE_000149" "g.133202349G>A" "" "" "" "POLE(NM_006231.4):c.6539C>T (p.A2180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132625763G>A" "" "likely benign" "" "0000547166" "0" "10" "12" "133202740" "133202740" "subst" "0.00585731" "02327" "POLE_000011" "g.133202740C>T" "" "" "" "POLE(NM_006231.2):c.6494G>A (p.(Arg2165His)), POLE(NM_006231.4):c.6494G>A (p.R2165H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132626154C>T" "" "benign" "" "0000547167" "0" "30" "12" "133202816" "133202816" "subst" "0.0148669" "01804" "POLE_000014" "g.133202816C>T" "" "" "" "POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K), POLE(NM_006231.4):c.6418G>A (p.E2140K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132626230C>T" "" "likely benign" "" "0000547168" "0" "50" "12" "133209321" "133209321" "subst" "2.04558E-5" "02325" "POLE_000150" "g.133209321C>T" "" "" "" "POLE(NM_006231.4):c.6065G>A (p.S2022N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132632735C>T" "" "VUS" "" "0000547169" "0" "10" "12" "133212485" "133212485" "subst" "0.00257522" "02327" "POLE_000024" "g.133212485C>T" "" "" "" "POLE(NM_006231.3):c.5804G>A (p.C1935Y), POLE(NM_006231.4):c.5804G>A (p.C1935Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132635899C>T" "" "benign" "" "0000547170" "0" "10" "12" "133212582" "133212582" "subst" "0.154667" "02327" "POLE_000025" "g.133212582G>A" "" "" "" "POLE(NM_006231.4):c.5707C>T (p.L1903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132635996G>A" "" "benign" "" "0000547171" "0" "10" "12" "133218277" "133218277" "subst" "0.00589791" "02330" "POLE_000151" "g.133218277G>A" "" "" "" "POLE(NM_006231.2):c.5334C>T (p.(Ala1778=)), POLE(NM_006231.4):c.5334C>T (p.A1778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132641691G>A" "" "benign" "" "0000547172" "0" "10" "12" "133218745" "133218745" "subst" "0.000159671" "02330" "POLE_000152" "g.133218745G>A" "" "" "" "POLE(NM_006231.4):c.5173+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132642159G>A" "" "benign" "" "0000547173" "0" "10" "12" "133219075" "133219077" "dup" "0" "02330" "POLE_000153" "g.133219075_133219077dup" "" "" "" "POLE(NM_006231.2):c.4952+17_4952+19dup (p.(=)), POLE(NM_006231.4):c.4952+15_4952+17dupGTC, POLE(NM_006231.4):c.4952+17_4952+19dupCGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132642489_132642491dup" "" "benign" "" "0000547174" "0" "10" "12" "133219075" "133219077" "dup" "0" "02329" "POLE_000153" "g.133219075_133219077dup" "" "" "" "POLE(NM_006231.2):c.4952+17_4952+19dup (p.(=)), POLE(NM_006231.4):c.4952+15_4952+17dupGTC, POLE(NM_006231.4):c.4952+17_4952+19dupCGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132642489_132642491dup" "" "benign" "" "0000547175" "0" "30" "12" "133219075" "133219077" "dup" "0" "02325" "POLE_000153" "g.133219075_133219077dup" "" "" "" "POLE(NM_006231.2):c.4952+17_4952+19dup (p.(=)), POLE(NM_006231.4):c.4952+15_4952+17dupGTC, POLE(NM_006231.4):c.4952+17_4952+19dupCGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132642489_132642491dup" "" "likely benign" "" "0000547176" "0" "50" "12" "133219162" "133219162" "subst" "0" "02325" "POLE_000154" "g.133219162C>T" "" "" "" "POLE(NM_006231.4):c.4882G>A (p.G1628R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132642576C>T" "" "VUS" "" "0000547177" "0" "30" "12" "133219308" "133219308" "subst" "7.3169E-5" "02330" "POLE_000155" "g.133219308C>T" "" "" "" "POLE(NM_006231.4):c.4736G>A (p.R1579H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132642722C>T" "" "likely benign" "" "0000547178" "0" "10" "12" "133219592" "133219592" "subst" "0.00529594" "02327" "POLE_000037" "g.133219592C>A" "" "" "" "POLE(NM_006231.2):c.4552-10G>T (p.(=)), POLE(NM_006231.4):c.4552-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643006C>A" "" "benign" "" "0000547179" "0" "10" "12" "133219989" "133219989" "subst" "0.0619527" "02327" "POLE_000110" "g.133219989A>T" "" "" "" "POLE(NM_006231.4):c.4444+4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643403A>T" "" "benign" "" "0000547180" "0" "30" "12" "133220029" "133220029" "subst" "0" "02330" "POLE_000156" "g.133220029T>A" "" "" "" "POLE(NM_006231.4):c.4408A>T (p.M1470L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643443T>A" "" "likely benign" "" "0000547181" "0" "30" "12" "133220130" "133220130" "subst" "8.53645E-5" "02330" "POLE_000157" "g.133220130C>T" "" "" "" "POLE(NM_006231.4):c.4307G>A (p.R1436Q, p.(Arg1436Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643544C>T" "" "likely benign" "" "0000547182" "0" "30" "12" "133220131" "133220131" "subst" "2.03257E-5" "02330" "POLE_000158" "g.133220131G>A" "" "" "" "POLE(NM_006231.4):c.4306C>T (p.R1436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643545G>A" "" "likely benign" "" "0000547183" "0" "30" "12" "133220158" "133220158" "subst" "7.73767E-5" "02330" "POLE_000159" "g.133220158G>A" "" "" "" "POLE(NM_006231.4):c.4291-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643572G>A" "" "likely benign" "" "0000547184" "0" "10" "12" "133220418" "133220418" "subst" "0.0238295" "01804" "POLE_000046" "g.133220418G>A" "" "" "" "POLE(NM_006231.2):c.4290+5C>T (p.?), POLE(NM_006231.3):c.4290+5C>T, POLE(NM_006231.4):c.4290+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643832G>A" "" "benign" "" "0000547185" "0" "30" "12" "133220454" "133220454" "subst" "0.00358219" "01804" "POLE_000047" "g.133220454G>A" "" "" "" "POLE(NM_006231.2):c.4259C>T (p.(Ala1420Val)), POLE(NM_006231.3):c.4259C>T (p.A1420V), POLE(NM_006231.4):c.4259C>T (p.A1420V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643868G>A" "" "likely benign" "" "0000547186" "0" "10" "12" "133220526" "133220526" "subst" "0.115103" "02327" "POLE_000048" "g.133220526T>C" "" "" "" "POLE(NM_006231.4):c.4187A>G (p.N1396S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643940T>C" "" "benign" "" "0000547187" "0" "30" "12" "133225607" "133225607" "subst" "0.000578911" "02330" "POLE_000160" "g.133225607T>C" "" "" "" "POLE(NM_006231.2):c.4057A>G (p.(Ser1353Gly)), POLE(NM_006231.3):c.4057A>G (p.S1353G), POLE(NM_006231.4):c.4057A>G (p.S1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649021T>C" "" "likely benign" "" "0000547188" "0" "30" "12" "133225607" "133225607" "subst" "0.000578911" "01943" "POLE_000160" "g.133225607T>C" "" "" "" "POLE(NM_006231.2):c.4057A>G (p.(Ser1353Gly)), POLE(NM_006231.3):c.4057A>G (p.S1353G), POLE(NM_006231.4):c.4057A>G (p.S1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649021T>C" "" "likely benign" "" "0000547189" "0" "30" "12" "133225607" "133225607" "subst" "0.000578911" "01804" "POLE_000160" "g.133225607T>C" "" "" "" "POLE(NM_006231.2):c.4057A>G (p.(Ser1353Gly)), POLE(NM_006231.3):c.4057A>G (p.S1353G), POLE(NM_006231.4):c.4057A>G (p.S1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649021T>C" "" "likely benign" "" "0000547190" "0" "30" "12" "133225607" "133225607" "subst" "0.000578911" "02329" "POLE_000160" "g.133225607T>C" "" "" "" "POLE(NM_006231.2):c.4057A>G (p.(Ser1353Gly)), POLE(NM_006231.3):c.4057A>G (p.S1353G), POLE(NM_006231.4):c.4057A>G (p.S1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649021T>C" "" "likely benign" "" "0000547191" "0" "50" "12" "133225927" "133225927" "subst" "7.77344E-5" "02325" "POLE_000051" "g.133225927G>A" "" "" "" "POLE(NM_006231.4):c.3970C>T (p.R1324C, p.(Arg1324Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649341G>A" "" "VUS" "" "0000547192" "0" "30" "12" "133226046" "133226046" "subst" "0.000636948" "02330" "POLE_000161" "g.133226046C>T" "" "" "" "POLE(NM_006231.2):c.3851G>A (p.(Arg1284Gln)), POLE(NM_006231.3):c.3851G>A (p.R1284Q), POLE(NM_006231.4):c.3851G>A (p.R1284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649460C>T" "" "likely benign" "" "0000547193" "0" "30" "12" "133226046" "133226046" "subst" "0.000636948" "01943" "POLE_000161" "g.133226046C>T" "" "" "" "POLE(NM_006231.2):c.3851G>A (p.(Arg1284Gln)), POLE(NM_006231.3):c.3851G>A (p.R1284Q), POLE(NM_006231.4):c.3851G>A (p.R1284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649460C>T" "" "likely benign" "" "0000547194" "0" "30" "12" "133226046" "133226046" "subst" "0.000636948" "02325" "POLE_000161" "g.133226046C>T" "" "" "" "POLE(NM_006231.2):c.3851G>A (p.(Arg1284Gln)), POLE(NM_006231.3):c.3851G>A (p.R1284Q), POLE(NM_006231.4):c.3851G>A (p.R1284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649460C>T" "" "likely benign" "" "0000547195" "0" "30" "12" "133226340" "133226340" "subst" "0.000775817" "02330" "POLE_000162" "g.133226340C>T" "" "" "" "POLE(NM_006231.2):c.3718G>A (p.(Glu1240Lys)), POLE(NM_006231.4):c.3718G>A (p.E1240K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649754C>T" "" "likely benign" "" "0000547196" "0" "50" "12" "133226374" "133226374" "del" "0" "01943" "POLE_000163" "g.133226374del" "" "" "" "POLE(NM_006231.3):c.3684delT (p.V1229*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649788del" "" "VUS" "" "0000547197" "0" "30" "12" "133226407" "133226407" "subst" "2.03155E-5" "02330" "POLE_000055" "g.133226407G>A" "" "" "" "POLE(NM_006231.3):c.3651C>T (p.L1217=), POLE(NM_006231.4):c.3651C>T (p.L1217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649821G>A" "" "likely benign" "" "0000547198" "0" "30" "12" "133226413" "133226413" "subst" "2.43801E-5" "02330" "POLE_000164" "g.133226413G>A" "" "" "" "POLE(NM_006231.4):c.3645C>T (p.F1215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649827G>A" "" "likely benign" "" "0000547199" "0" "10" "12" "133233839" "133233839" "subst" "4.06078E-6" "02330" "POLE_000165" "g.133233839C>T" "" "" "" "POLE(NM_006231.4):c.3465G>A (p.K1155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132657253C>T" "" "benign" "" "0000547200" "0" "10" "12" "133234020" "133234020" "subst" "0.0383918" "01804" "POLE_000058" "g.133234020A>G" "" "" "" "POLE(NM_006231.2):c.3379-5T>C (p.?), POLE(NM_006231.3):c.3379-5T>C, POLE(NM_006231.4):c.3379-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132657434A>G" "" "benign" "" "0000547201" "0" "30" "12" "133235866" "133235891" "dup" "0" "02330" "POLE_000166" "g.133235866_133235891dup" "" "" "" "POLE(NM_006231.2):c.3265_3275+15dup (p.?), POLE(NM_006231.3):c.3275+15_3275+16insGGGGGGAGCCCTCACCTCTCCGTGAC, POLE(NM_006231.4):c.3275+15_3275+16ins..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132659280_132659305dup" "" "likely benign" "" "0000547202" "0" "50" "12" "133235926" "133235926" "subst" "3.25375E-5" "01943" "POLE_000167" "g.133235926C>T" "" "" "" "POLE(NM_006231.2):c.3230G>A (p.(Arg1077His)), POLE(NM_006231.3):c.3230G>A (p.R1077H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132659340C>T" "" "VUS" "" "0000547203" "0" "10" "12" "133236030" "133236030" "subst" "0.00533639" "02329" "POLE_000066" "g.133236030C>T" "" "" "" "POLE(NM_006231.4):c.3126G>A (p.K1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132659444C>T" "" "benign" "" "0000547204" "0" "10" "12" "133237766" "133237767" "del" "0" "02330" "POLE_000112" "g.133237766_133237767del" "" "" "" "POLE(NM_006231.2):c.2865-5_2865-4del (p.?), POLE(NM_006231.4):c.2865-5_2865-4delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132661180_132661181del" "" "benign" "" "0000547205" "0" "50" "12" "133237767" "133237767" "del" "0" "01804" "POLE_000070" "g.133237767del" "" "" "" "POLE(NM_006231.2):c.2865-4del (p.?), POLE(NM_006231.3):c.2865-4delT, POLE(NM_006231.4):c.2865-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132661181del" "" "VUS" "" "0000547206" "0" "30" "12" "133237767" "133237767" "dup" "0" "01804" "POLE_000168" "g.133237767dup" "" "" "" "POLE(NM_006231.2):c.2865-4dup (p.?), POLE(NM_006231.4):c.2865-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132661181dup" "" "likely benign" "" "0000547207" "0" "10" "12" "133237767" "133237767" "dup" "0" "02330" "POLE_000168" "g.133237767dup" "" "" "" "POLE(NM_006231.2):c.2865-4dup (p.?), POLE(NM_006231.4):c.2865-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132661181dup" "" "benign" "" "0000547208" "0" "10" "12" "133237767" "133237767" "dup" "0" "02329" "POLE_000168" "g.133237767dup" "" "" "" "POLE(NM_006231.2):c.2865-4dup (p.?), POLE(NM_006231.4):c.2865-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132661181dup" "" "benign" "" "0000547209" "0" "10" "12" "133240950" "133240950" "subst" "0.000471606" "02330" "POLE_000169" "g.133240950A>G" "" "" "" "POLE(NM_006231.3):c.2561+6T>C, POLE(NM_006231.4):c.2561+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132664364A>G" "" "benign" "" "0000547210" "0" "10" "12" "133240967" "133240967" "subst" "0.00345439" "02329" "POLE_000116" "g.133240967G>A" "" "" "" "POLE(NM_006231.2):c.2550C>T (p.(Ile850=)), POLE(NM_006231.4):c.2550C>T (p.I850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132664381G>A" "" "benign" "" "0000547211" "0" "30" "12" "133241036" "133241036" "subst" "3.65869E-5" "02330" "POLE_000170" "g.133241036G>A" "" "" "" "POLE(NM_006231.4):c.2481C>T (p.Y827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132664450G>A" "" "likely benign" "" "0000547212" "0" "50" "12" "133242014" "133242014" "subst" "0" "02325" "POLE_000171" "g.133242014G>A" "" "" "" "POLE(NM_006231.4):c.2342C>T (p.A781V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132665428G>A" "" "VUS" "" "0000547213" "0" "10" "12" "133242049" "133242049" "subst" "0.0051343" "02327" "POLE_000122" "g.133242049T>C" "" "" "" "POLE(NM_006231.2):c.2320-13A>G (p.(=)), POLE(NM_006231.4):c.2320-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132665463T>C" "" "benign" "" "0000547214" "0" "30" "12" "133244944" "133244944" "subst" "0.000322756" "02325" "POLE_000172" "g.133244944G>A" "" "" "" "POLE(NM_006231.4):c.2171C>T (p.(Ala724Val), p.A724V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132668358G>A" "" "likely benign" "" "0000547216" "0" "30" "12" "133245025" "133245025" "subst" "0.000896703" "02330" "POLE_000174" "g.133245025G>C" "" "" "" "POLE(NM_006231.3):c.2090C>G (p.P697R), POLE(NM_006231.4):c.2090C>G (p.P697R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132668439G>C" "" "likely benign" "" "0000547217" "0" "10" "12" "133245026" "133245026" "subst" "0.000967252" "02330" "POLE_000175" "g.133245026G>A" "" "" "" "POLE(NM_006231.4):c.2089C>T (p.P697S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132668440G>A" "" "benign" "" "0000547218" "0" "10" "12" "133245032" "133245032" "subst" "0.0112338" "01804" "POLE_000072" "g.133245032A>T" "" "" "" "POLE(NM_006231.2):c.2083T>A (p.(Phe695Ile)), POLE(NM_006231.3):c.2083T>A (p.F695I), POLE(NM_006231.4):c.2083T>A (p.F695I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132668446A>T" "" "benign" "" "0000547219" "0" "30" "12" "133245176" "133245220" "dup" "0" "02330" "POLE_000176" "g.133245176_133245220dup" "" "" "" "POLE(NM_006231.4):c.2026+18_2026+62dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132668590_132668634dup" "" "likely benign" "" "0000547220" "0" "10" "12" "133245212" "133245212" "subst" "0.000378732" "02330" "POLE_000177" "g.133245212G>A" "" "" "" "POLE(NM_006231.2):c.2026+9C>T (p.(=)), POLE(NM_006231.4):c.2026+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132668626G>A" "" "benign" "" "0000547221" "0" "30" "12" "133245212" "133245212" "subst" "0.000378732" "02329" "POLE_000177" "g.133245212G>A" "" "" "" "POLE(NM_006231.2):c.2026+9C>T (p.(=)), POLE(NM_006231.4):c.2026+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132668626G>A" "" "likely benign" "" "0000547222" "0" "30" "12" "133245254" "133245254" "subst" "1.62501E-5" "02330" "POLE_000178" "g.133245254G>A" "" "" "" "POLE(NM_006231.4):c.1993C>T (p.R665W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132668668G>A" "" "likely benign" "" "0000547223" "0" "50" "12" "133248834" "133248834" "subst" "0" "01943" "POLE_000179" "g.133248834T>C" "" "" "" "POLE(NM_006231.3):c.1761A>G (p.K587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132672248T>C" "" "VUS" "" "0000547224" "0" "30" "12" "133249300" "133249300" "subst" "0" "02327" "POLE_000180" "g.133249300C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132672714C>T" "" "likely benign" "" "0000547225" "0" "30" "12" "133249311" "133249311" "subst" "1.2222E-5" "02330" "POLE_000077" "g.133249311C>T" "" "" "" "POLE(NM_006231.4):c.1588G>A (p.D530N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132672725C>T" "" "likely benign" "" "0000547226" "0" "30" "12" "133249374" "133249374" "subst" "0" "02330" "POLE_000181" "g.133249374C>T" "" "" "" "POLE(NM_006231.4):c.1525G>A (p.A509T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132672788C>T" "" "likely benign" "" "0000547227" "0" "30" "12" "133249869" "133249869" "subst" "0.000288461" "02327" "POLE_000182" "g.133249869G>A" "" "" "" "POLE(NM_006231.3):c.1360-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132673283G>A" "" "likely benign" "" "0000547228" "0" "30" "12" "133250103" "133250103" "subst" "0" "02327" "POLE_000183" "g.133250103G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132673517G>A" "" "likely benign" "" "0000547229" "0" "30" "12" "133250152" "133250152" "subst" "0.00107078" "02330" "POLE_000184" "g.133250152C>T" "" "" "" "POLE(NM_006231.3):c.1359+9G>A, POLE(NM_006231.4):c.1359+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132673566C>T" "" "likely benign" "" "0000547230" "0" "10" "12" "133250152" "133250152" "subst" "0.00107078" "01943" "POLE_000184" "g.133250152C>T" "" "" "" "POLE(NM_006231.3):c.1359+9G>A, POLE(NM_006231.4):c.1359+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132673566C>T" "" "benign" "" "0000547231" "0" "50" "12" "133250163" "133250163" "subst" "2.86939E-5" "02325" "POLE_000185" "g.133250163G>C" "" "" "" "POLE(NM_006231.4):c.1357C>G (p.Q453E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132673577G>C" "" "VUS" "" "0000547232" "0" "50" "12" "133250183" "133250183" "subst" "0.00027313" "01943" "POLE_000083" "g.133250183C>T" "" "" "" "POLE(NM_006231.2):c.1337G>A (p.(Arg446Gln)), POLE(NM_006231.3):c.1337G>A (p.R446Q), POLE(NM_006231.4):c.1337G>A (p.R446Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132673597C>T" "" "VUS" "" "0000547233" "0" "10" "12" "133250197" "133250197" "subst" "0.00316211" "02330" "POLE_000186" "g.133250197C>T" "" "" "" "POLE(NM_006231.2):c.1323G>A (p.(Pro441=)), POLE(NM_006231.4):c.1323G>A (p.P441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132673611C>T" "" "benign" "" "0000547234" "0" "70" "12" "133250289" "133250289" "subst" "0" "02327" "POLE_000187" "g.133250289C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132673703C>T" "" "likely pathogenic" "" "0000547235" "0" "10" "12" "133251939" "133251939" "subst" "0.0609589" "02327" "POLE_000188" "g.133251939G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132675353G>A" "" "benign" "" "0000547236" "0" "30" "12" "133252065" "133252065" "subst" "0.00013404" "02327" "POLE_000189" "g.133252065C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132675479C>T" "" "likely benign" "" "0000547237" "0" "50" "12" "133253146" "133253146" "subst" "8.12288E-6" "02327" "POLE_000190" "g.133253146T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132676560T>C" "" "VUS" "" "0000547238" "0" "30" "12" "133253180" "133253180" "subst" "0.000832548" "02330" "POLE_000003" "g.133253180A>T" "" "" "" "POLE(NM_006231.2):c.861T>A (p.(Asp287Glu)), POLE(NM_006231.3):c.861T>A (p.D287E), POLE(NM_006231.4):c.861T>A (p.D287E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132676594A>T" "" "likely benign" "" "0000547239" "0" "50" "12" "133253180" "133253180" "subst" "0.000832548" "01943" "POLE_000003" "g.133253180A>T" "" "" "" "POLE(NM_006231.2):c.861T>A (p.(Asp287Glu)), POLE(NM_006231.3):c.861T>A (p.D287E), POLE(NM_006231.4):c.861T>A (p.D287E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132676594A>T" "" "VUS" "" "0000547240" "0" "30" "12" "133253180" "133253180" "subst" "0.000832548" "02327" "POLE_000003" "g.133253180A>T" "" "" "" "POLE(NM_006231.2):c.861T>A (p.(Asp287Glu)), POLE(NM_006231.3):c.861T>A (p.D287E), POLE(NM_006231.4):c.861T>A (p.D287E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132676594A>T" "" "likely benign" "" "0000547241" "0" "30" "12" "133253180" "133253180" "subst" "0.000832548" "02325" "POLE_000003" "g.133253180A>T" "" "" "" "POLE(NM_006231.2):c.861T>A (p.(Asp287Glu)), POLE(NM_006231.3):c.861T>A (p.D287E), POLE(NM_006231.4):c.861T>A (p.D287E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132676594A>T" "" "likely benign" "" "0000547242" "0" "30" "12" "133253180" "133253180" "subst" "0.000832548" "02329" "POLE_000003" "g.133253180A>T" "" "" "" "POLE(NM_006231.2):c.861T>A (p.(Asp287Glu)), POLE(NM_006231.3):c.861T>A (p.D287E), POLE(NM_006231.4):c.861T>A (p.D287E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132676594A>T" "" "likely benign" "" "0000547243" "0" "50" "12" "133253191" "133253191" "subst" "3.65506E-5" "02327" "POLE_000089" "g.133253191T>C" "" "" "" "POLE(NM_006231.4):c.850A>G (p.K284E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132676605T>C" "" "VUS" "" "0000547244" "0" "50" "12" "133253213" "133253213" "subst" "0" "01943" "POLE_000191" "g.133253213A>C" "" "" "" "POLE(NM_006231.3):c.828T>G (p.I276M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132676627A>C" "" "VUS" "" "0000547245" "0" "30" "12" "133253971" "133253971" "subst" "0.000836501" "02329" "POLE_000092" "g.133253971C>T" "" "" "" "POLE(NM_006231.2):c.779G>A (p.(Arg260Gln)), POLE(NM_006231.4):c.779G>A (p.R260Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132677385C>T" "" "likely benign" "" "0000547246" "0" "30" "12" "133253974" "133253974" "subst" "0.00519404" "01804" "POLE_000093" "g.133253974C>T" "" "" "" "POLE(NM_006231.2):c.776G>A (p.(Arg259His)), POLE(NM_006231.3):c.776G>A (p.R259H), POLE(NM_006231.4):c.776G>A (p.R259H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132677388C>T" "" "likely benign" "" "0000547247" "0" "10" "12" "133253995" "133253995" "subst" "0.0857672" "02330" "POLE_000192" "g.133253995G>A" "" "" "" "POLE(NM_006231.4):c.755C>T (p.A252V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132677409G>A" "" "benign" "" "0000547248" "0" "10" "12" "133253995" "133253995" "subst" "0.0857672" "02327" "POLE_000192" "g.133253995G>A" "" "" "" "POLE(NM_006231.4):c.755C>T (p.A252V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132677409G>A" "" "benign" "" "0000547249" "0" "50" "12" "133254193" "133254193" "subst" "0.000125907" "02325" "POLE_000193" "g.133254193G>A" "" "" "" "POLE(NM_006231.2):c.691C>T (p.(Arg231Cys)), POLE(NM_006231.4):c.691C>T (p.R231C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132677607G>A" "" "VUS" "" "0000547250" "0" "30" "12" "133256151" "133256151" "subst" "8.12137E-6" "02330" "POLE_000194" "g.133256151G>T" "" "" "" "POLE(NM_006231.4):c.510C>A (p.I170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132679565G>T" "" "likely benign" "" "0000547251" "0" "50" "12" "133257774" "133257774" "subst" "0.000117766" "02325" "POLE_000195" "g.133257774G>A" "" "" "" "POLE(NM_006231.4):c.154C>T (p.R52W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132681188G>A" "" "VUS" "" "0000547252" "0" "30" "12" "133257789" "133257789" "subst" "0.000783769" "02330" "POLE_000104" "g.133257789G>A" "" "" "" "POLE(NM_006231.2):c.139C>T (p.(Arg47Trp)), POLE(NM_006231.3):c.139C>T (p.R47W), POLE(NM_006231.4):c.139C>T (p.R47W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132681203G>A" "" "likely benign" "" "0000547253" "0" "50" "12" "133257789" "133257789" "subst" "0.000783769" "01943" "POLE_000104" "g.133257789G>A" "" "" "" "POLE(NM_006231.2):c.139C>T (p.(Arg47Trp)), POLE(NM_006231.3):c.139C>T (p.R47W), POLE(NM_006231.4):c.139C>T (p.R47W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132681203G>A" "" "VUS" "" "0000547254" "0" "30" "12" "133257789" "133257789" "subst" "0.000783769" "02329" "POLE_000104" "g.133257789G>A" "" "" "" "POLE(NM_006231.2):c.139C>T (p.(Arg47Trp)), POLE(NM_006231.3):c.139C>T (p.R47W), POLE(NM_006231.4):c.139C>T (p.R47W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132681203G>A" "" "likely benign" "" "0000547255" "0" "30" "12" "133257837" "133257837" "subst" "0.012319" "01804" "POLE_000105" "g.133257837C>A" "" "" "" "POLE(NM_006231.2):c.91G>T (p.(Ala31Ser)), POLE(NM_006231.3):c.91G>T (p.A31S), POLE(NM_006231.4):c.91G>T (p.A31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132681251C>A" "" "likely benign" "" "0000547256" "0" "30" "12" "133257860" "133257860" "subst" "1.21897E-5" "02330" "POLE_000196" "g.133257860T>C" "" "" "" "POLE(NM_006231.4):c.68A>G (p.D23G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132681274T>C" "" "likely benign" "" "0000547257" "0" "30" "12" "133263886" "133263886" "subst" "0.0025492" "02329" "POLE_000108" "g.133263886C>G" "" "" "" "POLE(NM_006231.2):c.16G>C (p.(Gly6Arg)), POLE(NM_006231.3):c.16G>C (p.G6R), POLE(NM_006231.4):c.16G>C (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132687300C>G" "" "likely benign" "" "0000597241" "0" "50" "12" "133240613" "133240613" "subst" "0.000328963" "01164" "POLE_000199" "g.133240613C>T" "" "" "" "" "ACMG grading: PM2,PP3; reported in Spier 2015. Int J Cancer 137: 320; Kayser 2018. In J Cancer 143: 2800" "Germline" "" "rs201115064" "0" "" "" "g.132664027C>T" "" "VUS" "ACMG" "0000597243" "0" "50" "12" "133208903" "133208903" "subst" "2.4426E-5" "01164" "POLE_000198" "g.133208903T>C" "" "" "" "" "ACMG grading: BP4" "Germline" "" "rs746736600" "0" "" "" "g.132632317T>C" "" "VUS" "ACMG" "0000604578" "0" "30" "12" "133218361" "133218361" "subst" "0" "01741" "POLE_000200" "g.133218361C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.132641775C>T" "" "likely benign" "" "0000613964" "0" "50" "12" "133197717" "133197717" "subst" "0" "01943" "POLE_000201" "g.133197717G>C" "" "" "" "P2RX2(NM_001282165.1):c.905G>C (p.R302T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132621131G>C" "" "VUS" "" "0000613965" "0" "30" "12" "133201377" "133201377" "subst" "3.26059E-5" "02330" "POLE_000202" "g.133201377C>G" "" "" "" "POLE(NM_006231.4):c.6767G>C (p.G2256A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132624791C>G" "" "likely benign" "" "0000613966" "0" "50" "12" "133201579" "133201594" "dup" "0" "02327" "POLE_000203" "g.133201579_133201594dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132624993_132625008dup" "" "VUS" "" "0000613967" "0" "30" "12" "133209380" "133209380" "subst" "0.000225872" "02330" "POLE_000204" "g.133209380C>T" "" "" "" "POLE(NM_006231.4):c.6006G>A (p.A2002=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132632794C>T" "" "likely benign" "" "0000613968" "0" "90" "12" "133215865" "133215866" "dup" "0" "01943" "POLE_000205" "g.133215865_133215866dup" "" "" "" "POLE(NM_006231.3):c.5397_5398dupCG (p.V1800Afs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132639279_132639280dup" "" "pathogenic" "" "0000613969" "0" "50" "12" "133220508" "133220508" "subst" "0" "02325" "POLE_000207" "g.133220508A>G" "" "" "" "POLE(NM_006231.4):c.4205T>C (p.V1402A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132643922A>G" "" "VUS" "" "0000613970" "0" "30" "12" "133226035" "133226035" "subst" "0.000201219" "02330" "POLE_000208" "g.133226035C>T" "" "" "" "POLE(NM_006231.4):c.3862G>A (p.A1288T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649449C>T" "" "likely benign" "" "0000613971" "0" "50" "12" "133226066" "133226066" "subst" "0" "02325" "POLE_000209" "g.133226066C>A" "" "" "" "POLE(NM_006231.4):c.3831G>T (p.K1277N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649480C>A" "" "VUS" "" "0000613972" "0" "30" "12" "133233983" "133233983" "subst" "2.03072E-5" "02330" "POLE_000057" "g.133233983C>T" "" "" "" "POLE(NM_006231.3):c.3411G>A (p.L1137=), POLE(NM_006231.4):c.3411G>A (p.L1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132657397C>T" "" "likely benign" "" "0000613973" "0" "30" "12" "133240642" "133240642" "subst" "0" "02330" "POLE_000210" "g.133240642T>C" "" "" "" "POLE(NM_006231.4):c.2654A>G (p.K885R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132664056T>C" "" "likely benign" "" "0000613974" "0" "30" "12" "133245025" "133245025" "subst" "0.000896703" "01943" "POLE_000174" "g.133245025G>C" "" "" "" "POLE(NM_006231.3):c.2090C>G (p.P697R), POLE(NM_006231.4):c.2090C>G (p.P697R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132668439G>C" "" "likely benign" "" "0000613975" "0" "30" "12" "133249243" "133249243" "subst" "0" "01943" "POLE_000075" "g.133249243G>A" "" "" "" "POLE(NM_006231.3):c.1656C>T (p.F552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132672657G>A" "" "likely benign" "" "0000613976" "0" "30" "12" "133256215" "133256215" "subst" "8.13339E-6" "02330" "POLE_000211" "g.133256215T>C" "" "" "" "POLE(NM_006231.4):c.446A>G (p.K149R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132679629T>C" "" "likely benign" "" "0000622825" "0" "10" "12" "133212485" "133212485" "subst" "0.00257522" "02329" "POLE_000024" "g.133212485C>T" "" "" "" "POLE(NM_006231.3):c.5804G>A (p.C1935Y), POLE(NM_006231.4):c.5804G>A (p.C1935Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132635899C>T" "" "benign" "" "0000622826" "0" "50" "12" "133219583" "133219583" "dup" "0" "02325" "POLE_000206" "g.133219583dup" "" "" "" "POLE(NM_006231.4):c.4552dupG (p.V1518Gfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132642997dup" "" "VUS" "" "0000622827" "0" "30" "12" "133226046" "133226046" "subst" "0.000636948" "02329" "POLE_000161" "g.133226046C>T" "" "" "" "POLE(NM_006231.2):c.3851G>A (p.(Arg1284Gln)), POLE(NM_006231.3):c.3851G>A (p.R1284Q), POLE(NM_006231.4):c.3851G>A (p.R1284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132649460C>T" "" "likely benign" "" "0000622828" "0" "30" "12" "133235911" "133235911" "subst" "0.000134471" "01943" "POLE_000063" "g.133235911C>T" "" "" "" "POLE(NM_006231.3):c.3245G>A (p.R1082H), POLE(NM_006231.4):c.3245G>A (p.R1082H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132659325C>T" "" "likely benign" "" "0000648496" "1" "30" "12" "133202740" "133202740" "subst" "0.00585731" "03575" "POLE_000011" "g.133202740C>T" "80/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "80 heterozygous, no homozygous; {DB:CLININrs5745068}" "Germline" "" "rs5745068" "0" "" "" "g.132626154C>T" "" "likely benign" "" "0000648497" "1" "30" "12" "133202816" "133202816" "subst" "0.0148669" "03575" "POLE_000014" "g.133202816C>T" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs5745066}" "Germline" "" "rs5745066" "0" "" "" "g.132626230C>T" "" "likely benign" "" "0000648498" "1" "10" "12" "133220418" "133220418" "subst" "0.0238295" "03575" "POLE_000046" "g.133220418G>A" "123/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "123 heterozygous; {DB:CLININrs5744936}" "Germline" "" "rs5744936" "0" "" "" "g.132643832G>A" "" "benign" "" "0000648499" "1" "50" "12" "133250232" "133250232" "subst" "0.000516042" "03575" "POLE_000084" "g.133250232C>T" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 16 heterozygous, no homozygous; {DB:CLININrs140566004}" "Germline" "" "rs140566004" "0" "" "" "g.132673646C>T" "" "VUS" "" "0000648500" "1" "50" "12" "133253974" "133253974" "subst" "0.00519404" "03575" "POLE_000093" "g.133253974C>T" "2/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs61732929}" "Germline" "" "rs61732929" "0" "" "" "g.132677388C>T" "" "VUS" "" "0000648501" "1" "50" "12" "133257789" "133257789" "subst" "0.000783769" "03575" "POLE_000104" "g.133257789G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs143626223}" "Germline" "" "rs143626223" "0" "" "" "g.132681203G>A" "" "VUS" "" "0000648502" "1" "10" "12" "133257837" "133257837" "subst" "0.012319" "03575" "POLE_000105" "g.133257837C>A" "65/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "65 heterozygous, no homozygous; {DB:CLININrs34047482}" "Germline" "" "rs34047482" "0" "" "" "g.132681251C>A" "" "benign" "" "0000652991" "1" "50" "12" "133253953" "133253953" "subst" "1.62427E-5" "03575" "POLE_000212" "g.133253953C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs115786159}" "Germline" "" "rs115786159" "0" "" "" "g.132677367C>A" "" "VUS" "" "0000653557" "0" "50" "12" "133248853" "133248853" "subst" "0" "01164" "POLE_000213" "g.133248853G>C" "" "" "" "" "ACMG: PM2; patient not affected, mother CRC at age 42, no sample for segregatin available" "Germline" "" "" "0" "" "" "g.132672267G>C" "" "VUS" "ACMG" "0000657039" "0" "50" "12" "133196269" "133196269" "subst" "0" "02327" "POLE_000214" "g.133196269G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132619683G>T" "" "VUS" "" "0000657040" "0" "30" "12" "133201480" "133201483" "del" "0" "02330" "POLE_000215" "g.133201480_133201483del" "" "" "" "POLE(NM_006231.4):c.6747+11_6747+14delCCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132624894_132624897del" "" "likely benign" "" "0000657041" "0" "30" "12" "133202739" "133202739" "subst" "0.000668281" "02330" "POLE_000216" "g.133202739G>A" "" "" "" "POLE(NM_006231.4):c.6495C>T (p.R2165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132626153G>A" "" "likely benign" "" "0000657042" "0" "30" "12" "133219072" "133219074" "del" "0" "02330" "POLE_000217" "g.133219072_133219074del" "" "" "" "POLE(NM_006231.4):c.4952+20_4952+22delTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132642486_132642488del" "" "likely benign" "" "0000657043" "0" "50" "12" "133219152" "133219152" "subst" "8.13193E-6" "01943" "POLE_000218" "g.133219152C>T" "" "" "" "POLE(NM_006231.3):c.4892G>A (p.R1631H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132642566C>T" "" "VUS" "" "0000657044" "0" "30" "12" "133234027" "133234027" "subst" "0.000211637" "02330" "POLE_000219" "g.133234027G>A" "" "" "" "POLE(NM_006231.4):c.3379-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132657441G>A" "" "likely benign" "" "0000657045" "0" "30" "12" "133238204" "133238204" "subst" "6.09093E-5" "02330" "POLE_000071" "g.133238204A>G" "" "" "" "POLE(NM_006231.4):c.2773T>C (p.S925P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132661618A>G" "" "likely benign" "" "0000657046" "0" "30" "12" "133263886" "133263886" "subst" "9.40663E-6" "01943" "POLE_000220" "g.133263886C>T" "" "" "" "POLE(NM_006231.3):c.16G>A (p.G6S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132687300C>T" "" "likely benign" "" "0000659774" "0" "50" "12" "133240613" "133240613" "subst" "0.000328963" "01164" "POLE_000199" "g.133240613C>T" "" "" "" "" "ACMG grading: PM2,PP3; brother CRC at age 47y, grandmotherCRC around age 70y; Spier et al. 2015. Int J Cancer 137: 320; Kayser et al. 2018. In J Cancer 143: 2800" "Germline" "" "rs201115064" "0" "" "" "g.132664027C>T" "" "VUS" "ACMG" "0000665789" "0" "50" "12" "133214619" "133214619" "subst" "0.000479472" "01164" "POLE_000027" "g.133214619C>T" "" "" "" "" "Feliubadalò et al. 2017. Sci rep 7: 37984" "Germline" "" "rs114119067" "0" "" "" "g.132638033C>T" "" "VUS" "" "0000669154" "3" "10" "12" "133220418" "133220418" "subst" "0.0238295" "03575" "POLE_000046" "g.133220418G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs5744936}" "Germline" "" "rs5744936" "0" "" "" "g.132643832G>A" "" "benign" "" "0000679439" "0" "10" "12" "133250197" "133250197" "subst" "0.00316211" "02327" "POLE_000186" "g.133250197C>T" "" "" "" "POLE(NM_006231.2):c.1323G>A (p.(Pro441=)), POLE(NM_006231.4):c.1323G>A (p.P441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000679440" "0" "30" "12" "133257712" "133257712" "subst" "0" "02330" "POLE_000221" "g.133257712C>T" "" "" "" "POLE(NM_006231.4):c.204+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687262" "0" "50" "12" "133234016" "133234016" "subst" "0" "01741" "POLE_000222" "g.133234016C>G" "" "" "" "" "pathogenic tendency" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000691290" "0" "30" "12" "133201563" "133201563" "subst" "0.00118887" "02327" "POLE_000009" "g.133201563G>A" "" "" "" "POLE(NM_006231.3):c.6675C>T (p.R2225=), POLE(NM_006231.4):c.6675C>T (p.R2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691291" "0" "10" "12" "133202816" "133202816" "subst" "0.0148669" "02327" "POLE_000014" "g.133202816C>T" "" "" "" "POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K), POLE(NM_006231.4):c.6418G>A (p.E2140K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691292" "0" "10" "12" "133218277" "133218277" "subst" "0.00589791" "02329" "POLE_000151" "g.133218277G>A" "" "" "" "POLE(NM_006231.2):c.5334C>T (p.(Ala1778=)), POLE(NM_006231.4):c.5334C>T (p.A1778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691293" "0" "30" "12" "133245415" "133245415" "subst" "0.000182786" "01943" "POLE_000223" "g.133245415G>A" "" "" "" "POLE(NM_006231.3):c.1905C>T (p.I635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691294" "0" "30" "12" "133250173" "133250173" "subst" "0.00103387" "02330" "POLE_000082" "g.133250173C>T" "" "" "" "POLE(NM_006231.2):c.1347G>A (p.(Thr449=)), POLE(NM_006231.3):c.1347G>A (p.T449=), POLE(NM_006231.4):c.1347G>A (p.T449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691295" "0" "10" "12" "133250197" "133250197" "subst" "0.00316211" "02329" "POLE_000186" "g.133250197C>T" "" "" "" "POLE(NM_006231.2):c.1323G>A (p.(Pro441=)), POLE(NM_006231.4):c.1323G>A (p.P441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691296" "0" "50" "12" "133253950" "133253950" "subst" "0" "02325" "POLE_000224" "g.133253950G>A" "" "" "" "POLE(NM_006231.4):c.800C>T (p.P267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723923" "0" "30" "12" "133196318" "133196318" "subst" "0" "01943" "POLE_000225" "g.133196318C>G" "" "" "" "P2RX2(NM_001282165.1):c.363C>G (p.T121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723924" "0" "50" "12" "133196323" "133196323" "del" "0" "01943" "POLE_000226" "g.133196323del" "" "" "" "P2RX2(NM_001282165.1):c.368delG (p.G123Efs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723925" "0" "50" "12" "133196474" "133196474" "subst" "0.000794966" "01943" "POLE_000227" "g.133196474C>A" "" "" "" "P2RX2(NM_001282165.1):c.426C>A (p.C142*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723926" "0" "50" "12" "133198064" "133198064" "subst" "1.92764E-5" "01943" "POLE_000228" "g.133198064G>A" "" "" "" "P2RX2(NM_001282165.1):c.1019G>A (p.R340Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723927" "0" "50" "12" "133198293" "133198293" "subst" "0.000228186" "01943" "POLE_000229" "g.133198293C>T" "" "" "" "P2RX2(NM_170683.3):c.1229C>T (p.P410L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723928" "0" "30" "12" "133201531" "133201531" "subst" "0" "02329" "POLE_000230" "g.133201531C>T" "" "" "" "POLE(NM_006231.4):c.6707G>A (p.C2236Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723929" "0" "10" "12" "133215785" "133215785" "subst" "0.00108026" "02326" "POLE_000231" "g.133215785C>A" "" "" "" "POLE(NM_006231.3):c.5478G>T (p.R1826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723930" "0" "30" "12" "133225607" "133225607" "subst" "0.000578911" "02326" "POLE_000160" "g.133225607T>C" "" "" "" "POLE(NM_006231.2):c.4057A>G (p.(Ser1353Gly)), POLE(NM_006231.3):c.4057A>G (p.S1353G), POLE(NM_006231.4):c.4057A>G (p.S1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723931" "0" "30" "12" "133245025" "133245025" "subst" "0.000896703" "02326" "POLE_000174" "g.133245025G>C" "" "" "" "POLE(NM_006231.3):c.2090C>G (p.P697R), POLE(NM_006231.4):c.2090C>G (p.P697R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723932" "0" "50" "12" "133248857" "133248857" "subst" "0.000142123" "02325" "POLE_000128" "g.133248857G>T" "" "" "" "POLE(NM_006231.3):c.1738C>A (p.H580N), POLE(NM_006231.4):c.1738C>A (p.H580N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723933" "0" "10" "12" "133249753" "133249753" "subst" "0.00167765" "02327" "POLE_000079" "g.133249753G>A" "" "" "" "POLE(NM_006231.2):c.1470C>T (p.(Asp490=)), POLE(NM_006231.3):c.1470C>T (p.D490=), POLE(NM_006231.4):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723934" "0" "50" "12" "133250183" "133250183" "subst" "0.00027313" "02326" "POLE_000083" "g.133250183C>T" "" "" "" "POLE(NM_006231.2):c.1337G>A (p.(Arg446Gln)), POLE(NM_006231.3):c.1337G>A (p.R446Q), POLE(NM_006231.4):c.1337G>A (p.R446Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723935" "0" "50" "12" "133253950" "133253950" "subst" "0" "02327" "POLE_000224" "g.133253950G>A" "" "" "" "POLE(NM_006231.4):c.800C>T (p.P267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723936" "0" "50" "12" "133256633" "133256633" "subst" "0" "02330" "POLE_000232" "g.133256633C>G" "" "" "" "POLE(NM_006231.4):c.331-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000733921" "0" "70" "12" "133202740" "133202740" "subst" "0.00585731" "04011" "POLE_000011" "g.133202740C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000733968" "0" "70" "12" "133226101" "133226101" "subst" "0" "04011" "POLE_000235" "g.133226101C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734021" "0" "70" "12" "133202768" "133202768" "subst" "1.22702E-5" "04011" "POLE_000233" "g.133202768C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734141" "0" "70" "12" "133202740" "133202740" "subst" "0.00585731" "04011" "POLE_000011" "g.133202740C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734163" "0" "70" "12" "133202740" "133202740" "subst" "0.00585731" "04011" "POLE_000011" "g.133202740C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734164" "0" "70" "12" "133254172" "133254172" "subst" "5.28039E-5" "04011" "POLE_000237" "g.133254172T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734208" "0" "70" "12" "133250174" "133250174" "subst" "3.26856E-5" "04011" "POLE_000236" "g.133250174G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734235" "0" "70" "12" "133250174" "133250174" "subst" "3.26856E-5" "04011" "POLE_000236" "g.133250174G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734427" "0" "70" "12" "133202824" "133202824" "subst" "0" "04011" "POLE_000234" "g.133202824T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734488" "0" "70" "12" "133202740" "133202740" "subst" "0.00585731" "04011" "POLE_000011" "g.133202740C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734512" "0" "70" "12" "133201570" "133201570" "subst" "0.00016704" "04011" "POLE_000238" "g.133201570T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734550" "0" "70" "12" "133233957" "133233957" "subst" "0" "04011" "POLE_000240" "g.133233957G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734574" "0" "70" "12" "133202740" "133202740" "subst" "0.00585731" "04011" "POLE_000011" "g.133202740C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734582" "0" "70" "12" "133252072" "133252072" "subst" "5.68727E-5" "04011" "POLE_000241" "g.133252072C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734583" "0" "70" "12" "133237641" "133237641" "subst" "0.000333017" "04011" "POLE_000067" "g.133237641C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735109" "0" "70" "12" "133257212" "133257212" "subst" "2.43655E-5" "04011" "POLE_000243" "g.133257212T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735119" "0" "70" "12" "133252685" "133252685" "subst" "9.9788E-5" "04011" "POLE_000242" "g.133252685C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735128" "0" "70" "12" "133202740" "133202740" "subst" "0.00585731" "04011" "POLE_000011" "g.133202740C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735152" "0" "70" "12" "133202740" "133202740" "subst" "0.00585731" "04011" "POLE_000011" "g.133202740C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735261" "0" "70" "12" "133252693" "133252693" "subst" "0.0019584" "04011" "POLE_000086" "g.133252693T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735277" "0" "70" "12" "133237641" "133237641" "subst" "0.000333017" "04011" "POLE_000067" "g.133237641C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735286" "0" "70" "12" "133202740" "133202740" "subst" "0.00585731" "04011" "POLE_000011" "g.133202740C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735486" "0" "70" "12" "133209065" "133209065" "subst" "2.8425E-5" "04011" "POLE_000239" "g.133209065C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735490" "0" "70" "12" "133252693" "133252693" "subst" "0.0019584" "04011" "POLE_000086" "g.133252693T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000789668" "0" "70" "12" "133250289" "133250289" "subst" "0" "00585" "POLE_000187" "g.133250289C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132673703C>T" "" "likely pathogenic" "ACMG" "0000805615" "0" "30" "12" "133197699" "133197699" "subst" "4.06154E-5" "01943" "POLE_000244" "g.133197699C>T" "" "" "" "P2RX2(NM_001282165.1):c.887C>T (p.S296L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805616" "0" "50" "12" "133208999" "133208999" "subst" "2.43653E-5" "02326" "POLE_000245" "g.133208999G>A" "" "" "" "POLE(NM_006231.3):c.6232C>T (p.R2078W), POLE(NM_006231.4):c.6232C>T (p.R2078W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805617" "0" "30" "12" "133210761" "133210761" "subst" "0.000659062" "02326" "POLE_000021" "g.133210761T>C" "" "" "" "POLE(NM_006231.2):c.6004+11A>G (p.(=)), POLE(NM_006231.3):c.6004+11A>G, POLE(NM_006231.4):c.6004+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805618" "0" "30" "12" "133218358" "133218358" "subst" "1.64814E-5" "02326" "POLE_000030" "g.133218358G>A" "" "" "" "POLE(NM_006231.3):c.5253C>T (p.A1751=), POLE(NM_006231.4):c.5253C>T (p.A1751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805619" "0" "30" "12" "133219838" "133219838" "subst" "0.00107424" "02369" "POLE_000040" "g.133219838C>T" "" "" "" "POLE(NM_006231.2):c.4523G>A (p.(Arg1508His)), POLE(NM_006231.3):c.4523G>A (p.R1508H), POLE(NM_006231.4):c.4523G>A (p.R1508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805620" "0" "30" "12" "133240950" "133240950" "subst" "0.000471606" "02326" "POLE_000169" "g.133240950A>G" "" "" "" "POLE(NM_006231.3):c.2561+6T>C, POLE(NM_006231.4):c.2561+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805621" "0" "30" "12" "133241857" "133241857" "subst" "0.00204476" "02369" "POLE_000246" "g.133241857A>G" "" "" "" "POLE(NM_006231.3):c.2468+31T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805622" "0" "30" "12" "133249166" "133249166" "subst" "0" "02369" "POLE_000247" "g.133249166C>T" "" "" "" "POLE(NM_006231.3):c.1686+47G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805623" "0" "30" "12" "133254193" "133254193" "subst" "0.000125907" "02327" "POLE_000193" "g.133254193G>A" "" "" "" "POLE(NM_006231.2):c.691C>T (p.(Arg231Cys)), POLE(NM_006231.4):c.691C>T (p.R231C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000845104" "0" "50" "12" "133219871" "133219871" "subst" "5.73521E-5" "00006" "POLE_000249" "g.133219871T>C" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.132643285T>C" "" "VUS" "" "0000845105" "0" "50" "12" "133219820" "133219820" "subst" "0.000190816" "00006" "POLE_000248" "g.133219820A>G" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.132643234A>G" "" "VUS" "" "0000845106" "0" "50" "12" "133201570" "133201570" "subst" "0.00016704" "00006" "POLE_000238" "g.133201570T>C" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.132624984T>C" "" "VUS" "" "0000853322" "0" "30" "12" "133219838" "133219838" "subst" "0.00107424" "02326" "POLE_000040" "g.133219838C>T" "" "" "" "POLE(NM_006231.2):c.4523G>A (p.(Arg1508His)), POLE(NM_006231.3):c.4523G>A (p.R1508H), POLE(NM_006231.4):c.4523G>A (p.R1508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853323" "0" "30" "12" "133233854" "133233854" "subst" "0" "02369" "POLE_000253" "g.133233854G>A" "" "" "" "POLE(NM_006231.3):c.3460-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853324" "0" "30" "12" "133242022" "133242022" "subst" "0" "02326" "POLE_000255" "g.133242022C>T" "" "" "" "POLE(NM_006231.3):c.2334G>A (p.K778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853325" "0" "30" "12" "133249493" "133249493" "subst" "0" "02369" "POLE_000256" "g.133249493G>A" "" "" "" "POLE(NM_006231.3):c.1474-68C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853326" "0" "50" "12" "133249818" "133249818" "subst" "0.000125878" "01804" "POLE_000081" "g.133249818G>A" "" "" "" "POLE(NM_006231.2):c.1405C>T (p.(Leu469=)), POLE(NM_006231.4):c.1405C>T (p.L469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853327" "0" "30" "12" "133249869" "133249869" "subst" "0.000288461" "02326" "POLE_000182" "g.133249869G>A" "" "" "" "POLE(NM_006231.3):c.1360-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853328" "0" "10" "12" "133250152" "133250152" "subst" "0.00107078" "02329" "POLE_000184" "g.133250152C>T" "" "" "" "POLE(NM_006231.3):c.1359+9G>A, POLE(NM_006231.4):c.1359+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853329" "0" "50" "12" "133253133" "133253133" "subst" "4.06233E-6" "02327" "POLE_000259" "g.133253133T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853330" "0" "50" "12" "133257789" "133257789" "subst" "0.000783769" "02325" "POLE_000104" "g.133257789G>A" "" "" "" "POLE(NM_006231.2):c.139C>T (p.(Arg47Trp)), POLE(NM_006231.3):c.139C>T (p.R47W), POLE(NM_006231.4):c.139C>T (p.R47W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862908" "0" "50" "12" "133197068" "133197068" "subst" "0.000101572" "01943" "POLE_000250" "g.133197068C>G" "" "" "" "P2RX2(NM_001282165.1):c.673C>G (p.R225G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862909" "0" "30" "12" "133198117" "133198117" "subst" "1.39716E-5" "01943" "POLE_000251" "g.133198117C>T" "" "" "" "P2RX2(NM_170683.3):c.1053C>T (p.S351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862910" "0" "50" "12" "133209337" "133209337" "subst" "4.93535E-5" "02325" "POLE_000252" "g.133209337G>A" "" "" "" "POLE(NM_006231.4):c.6049C>T (p.R2017C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862911" "0" "50" "12" "133237569" "133237569" "subst" "0.000765546" "01804" "POLE_000254" "g.133237569C>T" "" "" "" "POLE(NM_006231.2):c.3046G>A (p.(Val1016Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862912" "0" "10" "12" "133242016" "133242016" "subst" "0.0237813" "01804" "POLE_000121" "g.133242016C>T" "" "" "" "POLE(NM_006231.2):c.2340G>A (p.(Ser780=)), POLE(NM_006231.4):c.2340G>A (p.S780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862913" "0" "30" "12" "133244242" "133244242" "subst" "0.0119132" "01804" "POLE_000124" "g.133244242C>T" "" "" "" "POLE(NM_006231.2):c.2174-8G>A (p.(=)), POLE(NM_006231.4):c.2174-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862914" "0" "50" "12" "133250238" "133250238" "subst" "6.09533E-5" "02325" "POLE_000257" "g.133250238C>T" "" "" "" "POLE(NM_006231.4):c.1282G>A (p.A428T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862915" "0" "50" "12" "133252684" "133252684" "subst" "0" "01943" "POLE_000258" "g.133252684T>A" "" "" "" "POLE(NM_006231.3):c.1016A>T (p.D339V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862916" "0" "50" "12" "133256774" "133256774" "subst" "0" "01943" "POLE_000260" "g.133256774G>T" "" "" "" "POLE(NM_006231.3):c.320C>A (p.A107E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881917" "11" "90" "12" "133254171" "133254173" "del" "0" "00006" "POLE_000261" "g.133254171_133254173del" "" "{PMID:Nakano 202:35534205}" "" "" "" "Germline" "" "" "0" "" "" "g.132677585_132677587del" "" "likely pathogenic (recessive)" "" "0000881919" "21" "90" "12" "133251750" "133251750" "subst" "0" "00006" "POLE_000262" "g.133251750C>T" "" "{PMID:Nakano 202:35534205}" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.132675164C>T" "" "pathogenic (recessive)" "" "0000881920" "11" "90" "12" "133240703" "133240703" "subst" "0" "00006" "POLE_000263" "g.133240703A>C" "" "{PMID:Nakano 202:35534205}" "" "" "" "Germline" "" "" "0" "" "" "g.132664117A>C" "" "pathogenic (recessive)" "" "0000881921" "21" "90" "12" "133251750" "133251750" "subst" "0" "00006" "POLE_000262" "g.133251750C>T" "" "{PMID:Nakano 202:35534205}" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay" "Germline/De novo (untested)" "" "" "0" "" "" "g.132675164C>T" "" "pathogenic (recessive)" "" "0000881922" "21" "90" "12" "133245030" "133245030" "dup" "0" "00006" "POLE_000270" "g.133245030dup" "" "{PMID:Logan 2018:30503519}" "" "2091dupC" "" "Germline" "" "" "0" "" "" "g.132668444dup" "" "pathogenic (recessive)" "" "0000881923" "21" "90" "12" "133245030" "133245030" "dup" "0" "00006" "POLE_000270" "g.133245030dup" "" "{PMID:Logan 2018:30503519}" "" "2091dupC" "" "Germline" "" "" "0" "" "" "g.132668444dup" "" "pathogenic (recessive)" "" "0000881924" "21" "90" "12" "133249181" "133249181" "subst" "2.46987E-5" "00006" "POLE_000272" "g.133249181G>C" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132672595G>C" "" "pathogenic (recessive)" "" "0000881925" "21" "90" "12" "133249181" "133249181" "subst" "2.46987E-5" "00006" "POLE_000272" "g.133249181G>C" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132672595G>C" "" "pathogenic (recessive)" "" "0000881926" "21" "90" "12" "133249181" "133249181" "subst" "2.46987E-5" "00006" "POLE_000272" "g.133249181G>C" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132672595G>C" "" "pathogenic (recessive)" "" "0000881927" "21" "90" "12" "133235879" "133235903" "del" "0" "00006" "POLE_000268" "g.133235879_133235903del" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132659293_132659317del" "" "pathogenic (recessive)" "" "0000881928" "1" "90" "12" "133263901" "133263901" "subst" "5.71973E-5" "00006" "POLE_000275" "g.133263901T>A" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132687315T>A" "" "pathogenic (recessive)" "" "0000881929" "21" "90" "12" 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"POLE_000272" "g.133249181G>C" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132672595G>C" "" "pathogenic (recessive)" "" "0000881943" "2" "90" "12" "133249181" "133249181" "subst" "2.46987E-5" "00006" "POLE_000272" "g.133249181G>C" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132672595G>C" "" "pathogenic (recessive)" "" "0000881944" "11" "90" "12" "133263901" "133263901" "subst" "5.71973E-5" "00006" "POLE_000275" "g.133263901T>A" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132687315T>A" "" "pathogenic (recessive)" "" "0000881945" "11" "90" "12" "133263901" "133263901" "subst" "5.71973E-5" "00006" "POLE_000275" "g.133263901T>A" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132687315T>A" "" "pathogenic (recessive)" "" "0000881946" "11" "90" "12" "133249181" "133249181" "subst" "2.46987E-5" "00006" "POLE_000272" "g.133249181G>C" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132672595G>C" "" "pathogenic (recessive)" "" "0000881947" "11" "90" "12" "133218349" "133218349" "del" "0" "00006" "POLE_000266" "g.133218349del" "" "{PMID:Logan 2018:30503519}" "" "5265delG" "" "Germline" "" "" "0" "" "" "g.132641763del" "" "pathogenic (recessive)" "" "0000881948" "11" "90" "12" "133218349" "133218349" "del" "0" "00006" "POLE_000266" "g.133218349del" "" "{PMID:Logan 2018:30503519}" "" "5265delG" "" "Germline" "" "" "0" "" "" "g.132641763del" "" "pathogenic (recessive)" "" "0000881949" "11" "90" "12" "133249181" "133249181" "subst" "2.46987E-5" "00006" "POLE_000272" "g.133249181G>C" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132672595G>C" "" "pathogenic (recessive)" "" "0000881950" "11" "90" "12" "133202717" "133202718" "del" "0" "00006" "POLE_000264" "g.133202717_133202718del" "" "{PMID:Logan 2018:30503519}" "" "6518_6519delCT" "" "Germline" "" "" "0" "" "" "g.132626131_132626132del" "" "pathogenic (recessive)" "" "0000881951" "11" "90" "12" "133249181" "133249181" "subst" "2.46987E-5" "00006" "POLE_000272" "g.133249181G>C" "" "{PMID:Logan 2018:30503519}" "" "" "" "Germline" "" "" "0" "" "" "g.132672595G>C" "" "pathogenic (recessive)" "" "0000890408" "0" "30" "12" "133198395" "133198395" "subst" "0" "02327" "POLE_000276" "g.133198395C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890409" "0" "30" "12" "133198534" "133198534" "subst" "0" "02327" "POLE_000277" "g.133198534C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890410" "0" "30" "12" "133201587" "133201587" "subst" "6.94791E-5" "02326" "POLE_000147" "g.133201587G>T" "" "" "" "POLE(NM_006231.3):c.6658-7C>A, POLE(NM_006231.4):c.6658-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890411" "0" "10" "12" "133202739" "133202739" "subst" "0.000668281" "02329" "POLE_000216" "g.133202739G>A" "" "" "" "POLE(NM_006231.4):c.6495C>T (p.R2165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890412" "0" "10" "12" "133202781" "133202781" "subst" "0.00180527" "02326" "POLE_000013" "g.133202781G>A" "" "" "" "POLE(NM_006231.2):c.6453C>T (p.(Tyr2151=)), POLE(NM_006231.3):c.6453C>T (p.Y2151=), POLE(NM_006231.4):c.6453C>T (p.Y2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890413" "0" "10" "12" "133208882" "133208882" "subst" "0.00307952" "02326" "POLE_000015" "g.133208882C>T" "" "" "" "POLE(NM_006231.2):c.6330+19G>A (p.(=)), POLE(NM_006231.3):c.6330+19G>A, POLE(NM_006231.4):c.6330+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890414" "0" "30" "12" "133209274" "133209274" "subst" "4.0776E-6" "02330" "POLE_000278" "g.133209274C>T" "" "" "" "POLE(NM_006231.4):c.6112G>A (p.E2038K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890415" "0" "50" "12" "133212476" "133212476" "subst" "0" "02327" "POLE_000279" "g.133212476A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890416" "0" "50" "12" "133214615" "133214615" "subst" "0" "02326" "POLE_000280" "g.133214615T>G" "" "" "" "POLE(NM_006231.3):c.5663A>C (p.E1888A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890417" "0" "10" "12" "133214695" "133214695" "subst" "0.00230256" "02326" "POLE_000028" "g.133214695T>G" "" "" "" "POLE(NM_006231.2):c.5583A>C (p.(Ser1861=)), POLE(NM_006231.3):c.5583A>C (p.S1861=), POLE(NM_006231.4):c.5583A>C (p.S1861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890418" "0" "50" "12" "133218336" "133218336" "subst" "2.45662E-5" "02329" "POLE_000281" "g.133218336C>T" "" "" "" "POLE(NM_006231.4):c.5275G>A (p.D1759N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890419" "0" "30" "12" "133218337" "133218337" "subst" "0" "02327" "POLE_000282" "g.133218337G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890420" "0" "10" "12" "133219911" "133219911" "subst" "3.66635E-5" "02330" "POLE_000283" "g.133219911T>G" "" "" "" "POLE(NM_006231.4):c.4450A>C (p.I1484L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890421" "0" "90" "12" "133220018" "133220018" "dup" "0" "02325" "POLE_000284" "g.133220018dup" "" "" "" "POLE(NM_006231.4):c.4420dupG (p.A1474Gfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890422" "0" "10" "12" "133234020" "133234020" "subst" "0.0383918" "02327" "POLE_000058" "g.133234020A>G" "" "" "" "POLE(NM_006231.2):c.3379-5T>C (p.?), POLE(NM_006231.3):c.3379-5T>C, POLE(NM_006231.4):c.3379-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890423" "0" "30" "12" "133235865" "133235865" "subst" "0.000119911" "02330" "POLE_000285" "g.133235865T>C" "" "" "" "POLE(NM_006231.4):c.3275+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890424" "0" "30" "12" "133235866" "133235891" "dup" "0" "02326" "POLE_000166" "g.133235866_133235891dup" "" "" "" "POLE(NM_006231.2):c.3265_3275+15dup (p.?), POLE(NM_006231.3):c.3275+15_3275+16insGGGGGGAGCCCTCACCTCTCCGTGAC, POLE(NM_006231.4):c.3275+15_3275+16ins..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890425" "0" "30" "12" "133236018" "133236018" "subst" "2.03065E-5" "02327" "POLE_000286" "g.133236018G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890426" "0" "30" "12" "133236099" "133236099" "subst" "2.44377E-5" "02325" "POLE_000287" "g.133236099G>C" "" "" "" "POLE(NM_006231.4):c.3061-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890427" "0" "50" "12" "133237590" "133237590" "subst" "0" "02327" "POLE_000288" "g.133237590C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890428" "0" "10" "12" "133237687" "133237687" "subst" "0.00232358" "02326" "POLE_000068" "g.133237687G>A" "" "" "" "POLE(NM_006231.3):c.2928C>T (p.R976=), POLE(NM_006231.4):c.2928C>T (p.R976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890429" "0" "30" "12" "133240704" "133240704" "subst" "0" "02330" "POLE_000289" "g.133240704T>C" "" "" "" "POLE(NM_006231.4):c.2592A>G (p.I864M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890430" "0" "30" "12" "133241947" "133241947" "subst" "2.43756E-5" "02329" "POLE_000119" "g.133241947C>T" "" "" "" "POLE(NM_006231.3):c.2409G>A (p.S803=), POLE(NM_006231.4):c.2409G>A (p.S803=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890431" "0" "10" "12" "133249753" "133249753" "subst" "0.00167765" "02326" "POLE_000079" "g.133249753G>A" "" "" "" "POLE(NM_006231.2):c.1470C>T (p.(Asp490=)), POLE(NM_006231.3):c.1470C>T (p.D490=), POLE(NM_006231.4):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890432" "0" "50" "12" "133250246" "133250246" "subst" "8.1244E-6" "02326" "POLE_000290" "g.133250246T>C" "" "" "" "POLE(NM_006231.3):c.1274A>G (p.K425R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890433" "0" "50" "12" "133252377" "133252377" "subst" "0" "02325" "POLE_000291" "g.133252377G>T" "" "" "" "POLE(NM_006231.4):c.1050C>A (p.H350Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890434" "0" "90" "12" "133253151" "133253151" "subst" "0" "02327" "POLE_000292" "g.133253151G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890435" "0" "30" "12" "133253180" "133253180" "subst" "0.000832548" "01804" "POLE_000003" "g.133253180A>T" "" "" "" "POLE(NM_006231.2):c.861T>A (p.(Asp287Glu)), POLE(NM_006231.3):c.861T>A (p.D287E), POLE(NM_006231.4):c.861T>A (p.D287E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913795" "0" "30" "12" "133249818" "133249818" "subst" "0.000125878" "02327" "POLE_000081" "g.133249818G>A" "" "" "" "POLE(NM_006231.2):c.1405C>T (p.(Leu469=)), POLE(NM_006231.4):c.1405C>T (p.L469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913796" "0" "50" "12" "133250183" "133250183" "subst" "0.00027313" "02325" "POLE_000083" "g.133250183C>T" "" "" "" "POLE(NM_006231.2):c.1337G>A (p.(Arg446Gln)), POLE(NM_006231.3):c.1337G>A (p.R446Q), POLE(NM_006231.4):c.1337G>A (p.R446Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913797" "0" "50" "12" "133253191" "133253191" "subst" "3.65506E-5" "02330" "POLE_000089" "g.133253191T>C" "" "" "" "POLE(NM_006231.4):c.850A>G (p.K284E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925588" "0" "30" "12" "133225958" "133225958" "subst" "4.09893E-5" "02330" "POLE_000293" "g.133225958C>T" "" "" "" "POLE(NM_006231.4):c.3939G>A (p.T1313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925589" "0" "30" "12" "133248796" "133248796" "subst" "0.000170578" "02325" "POLE_000294" "g.133248796G>A" "" "" "" "POLE(NM_006231.4):c.1794+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925590" "0" "50" "12" "133248898" "133248898" "subst" "0" "02326" "POLE_000295" "g.133248898G>T" "" "" "" "POLE(NM_006231.3):c.1697C>A (p.A566D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925591" "0" "50" "12" "133253208" "133253208" "subst" "2.84322E-5" "02326" "POLE_000296" "g.133253208G>A" "" "" "" "POLE(NM_006231.3):c.833C>T (p.T278M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925592" "0" "30" "12" "133257712" "133257712" "subst" "0" "02329" "POLE_000221" "g.133257712C>T" "" "" "" "POLE(NM_006231.4):c.204+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927875" "0" "30" "12" "133219908" "133219908" "subst" "0" "02765" "POLE_000297" "g.133219908G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.132643322G>A" "" "VUS" "" "0000930048" "0" "50" "12" "133210761" "133210761" "subst" "0.000659062" "01804" "POLE_000021" "g.133210761T>C" "" "" "" "POLE(NM_006231.2):c.6004+11A>G (p.(=)), POLE(NM_006231.3):c.6004+11A>G, POLE(NM_006231.4):c.6004+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930049" "0" "30" "12" "133218745" "133218745" "subst" "0.000159671" "02329" "POLE_000152" "g.133218745G>A" "" "" "" "POLE(NM_006231.4):c.5173+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930050" "0" "50" "12" "133219809" "133219810" "del" "0" "02325" "POLE_000298" "g.133219809_133219810del" "" "" "" "POLE(NM_006231.4):c.4551+2_4551+3delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930051" "0" "50" "12" "133225519" "133225519" "subst" "3.27284E-5" "02329" "POLE_000299" "g.133225519C>T" "" "" "" "POLE(NM_006231.4):c.4145G>A (p.R1382H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930052" "0" "50" "12" "133226340" "133226340" "subst" "0.000775817" "01804" "POLE_000162" "g.133226340C>T" "" "" "" "POLE(NM_006231.2):c.3718G>A (p.(Glu1240Lys)), POLE(NM_006231.4):c.3718G>A (p.E1240K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930053" "0" "50" "12" "133249308" "133249308" "subst" "4.07415E-6" "02325" "POLE_000300" "g.133249308C>T" "" "" "" "POLE(NM_006231.4):c.1591G>A (p.G531R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930054" "0" "30" "12" "133250173" "133250173" "subst" "0.00103387" "01804" "POLE_000082" "g.133250173C>T" "" "" "" "POLE(NM_006231.2):c.1347G>A (p.(Thr449=)), POLE(NM_006231.3):c.1347G>A (p.T449=), POLE(NM_006231.4):c.1347G>A (p.T449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931791" "1" "50" "12" "133212519" "133212519" "subst" "2.43922E-5" "00006" "POLE_000301" "g.133212519C>T" "" "{PMID:Rots 2023:37196654}" "" "" "" "Germline" "" "" "0" "" "" "g.132635933C>T" "" "VUS" "" "0000933314" "0" "50" "12" "133257819" "133257819" "subst" "1.2184E-5" "03628" "POLE_000302" "g.133257819G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132681233G>A" "" "VUS" "ACMG" "0000949893" "0" "30" "12" "133196037" "133196037" "subst" "0.0112348" "01804" "P2RX2_000007" "g.133196037C>T" "" "" "" "P2RX2(NM_001282164.1):c.186C>T (p.(Ile62=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949894" "0" "50" "12" "133202367" "133202367" "subst" "8.33014E-6" "01804" "POLE_000303" "g.133202367C>G" "" "" "" "POLE(NM_006231.2):c.6532-11G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949895" "0" "50" "12" "133208969" "133208969" "subst" "4.06138E-5" "02325" "POLE_000304" "g.133208969G>A" "" "" "" "POLE(NM_006231.4):c.6262C>T (p.(Pro2088Ser), p.P2088S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949896" "0" "30" "12" "133214619" "133214619" "subst" "0.000479472" "02329" "POLE_000027" "g.133214619C>T" "" "" "" "POLE(NM_006231.3):c.5659G>A (p.V1887M), POLE(NM_006231.4):c.5659G>A (p.V1887M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949897" "0" "30" "12" "133218746" "133218746" "subst" "0.000233593" "01804" "POLE_000031" "g.133218746T>C" "" "" "" "POLE(NM_006231.2):c.5173+17A>G (p.(=)), POLE(NM_006231.3):c.5173+17A>G, POLE(NM_006231.4):c.5173+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949898" "0" "30" "12" "133219075" "133219077" "dup" "0" "01804" "POLE_000153" "g.133219075_133219077dup" "" "" "" "POLE(NM_006231.2):c.4952+17_4952+19dup (p.(=)), POLE(NM_006231.4):c.4952+15_4952+17dupGTC, POLE(NM_006231.4):c.4952+17_4952+19dupCGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949899" "0" "50" "12" "133219838" "133219838" "subst" "0.00107424" "01804" "POLE_000040" "g.133219838C>T" "" "" "" "POLE(NM_006231.2):c.4523G>A (p.(Arg1508His)), POLE(NM_006231.3):c.4523G>A (p.R1508H), POLE(NM_006231.4):c.4523G>A (p.R1508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949900" "0" "50" "12" "133220544" "133220544" "subst" "0.000130209" "01804" "POLE_000305" "g.133220544C>T" "" "" "" "POLE(NM_006231.2):c.4169G>A (p.(Arg1390His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949901" "0" "50" "12" "133235865" "133235890" "dup" "0" "01804" "POLE_000306" "g.133235865_133235890dup" "" "" "" "POLE(NM_006231.2):c.3275+12_3275+37dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949902" "0" "50" "12" "133235972" "133235972" "subst" "0" "02325" "POLE_000307" "g.133235972C>T" "" "" "" "POLE(NM_006231.4):c.3184G>A (p.E1062K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949903" "0" "10" "12" "133240967" "133240967" "subst" "0.00345439" "01804" "POLE_000116" "g.133240967G>A" "" "" "" "POLE(NM_006231.2):c.2550C>T (p.(Ile850=)), POLE(NM_006231.4):c.2550C>T (p.I850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949904" "0" "50" "12" "133241063" "133241063" "subst" "0.0170687" "01804" "POLE_000117" "g.133241063C>T" "" "" "" "POLE(NM_006231.2):c.2469-15G>A (p.(=)), POLE(NM_006231.4):c.2469-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949905" "0" "50" "12" "133241869" "133241869" "subst" "2.04122E-5" "01804" "POLE_000308" "g.133241869C>T" "" "" "" "POLE(NM_006231.2):c.2468+19G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949906" "0" "30" "12" "133245208" "133245208" "subst" "8.15096E-6" "02330" "POLE_000309" "g.133245208G>A" "" "" "" "POLE(NM_006231.4):c.2026+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949907" "0" "30" "12" "133248857" "133248857" "subst" "0.000142123" "02329" "POLE_000128" "g.133248857G>T" "" "" "" "POLE(NM_006231.3):c.1738C>A (p.H580N), POLE(NM_006231.4):c.1738C>A (p.H580N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949908" "0" "30" "12" "133249236" "133249236" "subst" "1.22379E-5" "02330" "POLE_000310" "g.133249236C>T" "" "" "" "POLE(NM_006231.4):c.1663G>A (p.D555N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949909" "0" "50" "12" "133249733" "133249733" "subst" "4.0657E-6" "01804" "POLE_000311" "g.133249733G>A" "" "" "" "POLE(NM_006231.2):c.1473+17C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949910" "0" "50" "12" "133256645" "133256645" "subst" "0" "01804" "POLE_000312" "g.133256645A>C" "" "" "" "POLE(NM_006231.2):c.331-13T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949911" "0" "10" "12" "133263825" "133263825" "subst" "0.479502" "02329" "POLE_000107" "g.133263825G>A" "" "" "" "POLE(NM_006231.4):c.62+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966813" "0" "30" "12" "133196865" "133196865" "dup" "0" "02327" "POLE_000313" "g.133196865dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966814" "0" "50" "12" "133210965" "133210965" "subst" "0" "01804" "POLE_000314" "g.133210965C>T" "" "" "" "POLE(NM_006231.2):c.5812-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966815" "0" "30" "12" "133220444" "133220444" "subst" "2.03102E-5" "02329" "POLE_000315" "g.133220444G>A" "" "" "" "POLE(NM_006231.4):c.4269C>T (p.I1423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966816" "0" "50" "12" "133226435" "133226435" "subst" "4.06412E-6" "01804" "POLE_000316" "g.133226435C>T" "" "" "" "POLE(NM_006231.2):c.3623G>A (p.(Ser1208Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966817" "0" "50" "12" "133244993" "133244993" "subst" "0" "02329" "POLE_000317" "g.133244993G>A" "" "" "" "POLE(NM_006231.4):c.2122C>T (p.H708Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966818" "0" "50" "12" "133250205" "133250205" "subst" "0" "02327" "POLE_000318" "g.133250205G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966819" "0" "50" "12" "133250211" "133250211" "subst" "4.0657E-6" "02329" "POLE_000319" "g.133250211C>T" "" "" "" "POLE(NM_006231.4):c.1309G>A (p.V437M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966820" "0" "30" "12" "133251938" "133251938" "subst" "0.000234708" "02327" "POLE_000320" "g.133251938C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966821" "0" "50" "12" "133253129" "133253129" "subst" "4.06283E-6" "02325" "POLE_000321" "g.133253129C>G" "" "" "" "POLE(NM_006231.4):c.909+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966822" "0" "50" "12" "133254042" "133254043" "del" "0" "01804" "POLE_000322" "g.133254042_133254043del" "" "" "" "POLE(NM_006231.2):c.721-9_721-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966823" "0" "50" "12" "133256204" "133256204" "subst" "4.06507E-6" "02327" "POLE_000323" "g.133256204T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980140" "0" "30" "12" "133196062" "133196062" "subst" "0.00156313" "01804" "P2RX2_000001" "g.133196062G>A" "" "" "" "P2RX2(NM_001282165.1):c.211G>A (p.E71K), P2RX2(NM_170682.4):c.211G>A (p.(Glu71Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980141" "0" "10" "12" "133201327" "133201327" "subst" "0.00119215" "02329" "POLE_000005" "g.133201327T>A" "" "" "" "POLE(NM_006231.4):c.6817A>T (p.T2273S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980142" "0" "50" "12" "133201508" "133201508" "subst" "6.50851E-5" "02325" "POLE_000007" "g.133201508G>A" "" "" "" "POLE(NM_006231.4):c.6730C>T (p.L2244F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980143" "0" "50" "12" "133208969" "133208969" "subst" "4.06138E-5" "01804" "POLE_000304" "g.133208969G>A" "" "" "" "POLE(NM_006231.4):c.6262C>T (p.(Pro2088Ser), p.P2088S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980144" "0" "30" "12" "133219592" "133219592" "subst" "0.00529594" "01804" "POLE_000037" "g.133219592C>A" "" "" "" "POLE(NM_006231.2):c.4552-10G>T (p.(=)), POLE(NM_006231.4):c.4552-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980145" "0" "50" "12" "133219861" "133219861" "subst" "4.10705E-6" "01804" "POLE_000042" "g.133219861G>A" "" "" "" "POLE(NM_006231.2):c.4500C>T (p.(Phe1500=)), POLE(NM_006231.4):c.4500C>T (p.F1500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980146" "0" "50" "12" "133220130" "133220130" "subst" "8.53645E-5" "01804" "POLE_000157" "g.133220130C>T" "" "" "" "POLE(NM_006231.4):c.4307G>A (p.R1436Q, p.(Arg1436Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980147" "0" "50" "12" "133226046" "133226046" "subst" "0.000636948" "01804" "POLE_000161" "g.133226046C>T" "" "" "" "POLE(NM_006231.2):c.3851G>A (p.(Arg1284Gln)), POLE(NM_006231.3):c.3851G>A (p.R1284Q), POLE(NM_006231.4):c.3851G>A (p.R1284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980148" "0" "50" "12" "133235962" "133235962" "subst" "0" "02329" "POLE_000324" "g.133235962C>T" "" "" "" "POLE(NM_006231.4):c.3194G>A (p.G1065E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980149" "0" "50" "12" "133235981" "133235981" "subst" "0" "02329" "POLE_000325" "g.133235981G>A" "" "" "" "POLE(NM_006231.4):c.3175C>T (p.R1059C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980150" "0" "30" "12" "133237561" "133237561" "subst" "7.87023E-5" "02329" "POLE_000326" "g.133237561G>A" "" "" "" "POLE(NM_006231.4):c.3054C>T (p.Y1018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980151" "0" "50" "12" "133240620" "133240620" "subst" "0" "01804" "POLE_000327" "g.133240620G>A" "" "" "" "POLE(NM_006231.2):c.2676C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980152" "0" "10" "12" "133242049" "133242049" "subst" "0.0051343" "01804" "POLE_000122" "g.133242049T>C" "" "" "" "POLE(NM_006231.2):c.2320-13A>G (p.(=)), POLE(NM_006231.4):c.2320-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980153" "0" "50" "12" "133245405" "133245405" "subst" "0" "01804" "POLE_000328" "g.133245405G>A" "" "" "" "POLE(NM_006231.4):c.1915C>T (p.(Arg639Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980154" "0" "30" "12" "133248930" "133248930" "subst" "0.000573558" "02329" "POLE_000329" "g.133248930G>A" "" "" "" "POLE(NM_006231.4):c.1687-22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980155" "0" "50" "12" "133249223" "133249223" "subst" "2.04057E-5" "01804" "POLE_000330" "g.133249223C>T" "" "" "" "POLE(NM_006231.2):c.1676G>A (p.(Arg559Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980156" "0" "30" "12" "133249316" "133249316" "subst" "0.000101833" "02329" "POLE_000331" "g.133249316G>A" "" "" "" "POLE(NM_006231.4):c.1583C>T (p.T528M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980157" "0" "10" "12" "133250143" "133250143" "subst" "0.00114168" "02327" "POLE_000332" "g.133250143G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980158" "0" "50" "12" "133256168" "133256168" "subst" "0" "02329" "POLE_000333" "g.133256168T>G" "" "" "" "POLE(NM_006231.4):c.493A>C (p.K165Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980159" "0" "50" "12" "133256556" "133256556" "subst" "4.0659E-6" "01804" "POLE_000334" "g.133256556T>A" "" "" "" "POLE(NM_006231.4):c.407A>T (p.(Lys136Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999835" "0" "30" "12" "133195407" "133195407" "subst" "0" "01804" "POLE_000135" "g.133195407C>T" "" "" "" "P2RX2(NM_001282165.1):c.5C>T (p.A2V, p.(Ala2Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999836" "0" "10" "12" "133218277" "133218277" "subst" "0.00589791" "01804" "POLE_000151" "g.133218277G>A" "" "" "" "POLE(NM_006231.2):c.5334C>T (p.(Ala1778=)), POLE(NM_006231.4):c.5334C>T (p.A1778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000999837" "0" "30" "12" "133219838" "133219838" "subst" "0.00107424" "02325" "POLE_000040" "g.133219838C>T" "" "" "" "POLE(NM_006231.2):c.4523G>A (p.(Arg1508His)), POLE(NM_006231.3):c.4523G>A (p.R1508H), POLE(NM_006231.4):c.4523G>A (p.R1508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999838" "0" "30" "12" "133235871" "133235871" "subst" "0" "02329" "POLE_000335" "g.133235871G>T" "" "" "" "POLE(NM_006231.4):c.3275+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999839" "0" "50" "12" "133235926" "133235926" "subst" "3.25375E-5" "01804" "POLE_000167" "g.133235926C>T" "" "" "" "POLE(NM_006231.2):c.3230G>A (p.(Arg1077His)), POLE(NM_006231.3):c.3230G>A (p.R1077H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999840" "0" "30" "12" "133237766" "133237767" "del" "0" "01804" "POLE_000112" "g.133237766_133237767del" "" "" "" "POLE(NM_006231.2):c.2865-5_2865-4del (p.?), POLE(NM_006231.4):c.2865-5_2865-4delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999841" "0" "30" "12" "133241972" "133241972" "subst" "4.06494E-6" "01804" "POLE_000336" "g.133241972T>C" "" "" "" "POLE(NM_006231.2):c.2384A>G (p.(Lys795Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999842" "0" "50" "12" "133244162" "133244162" "subst" "0" "02329" "POLE_000337" "g.133244162C>T" "" "" "" "POLE(NM_006231.4):c.2246G>A (p.R749Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999843" "0" "10" "12" "133249753" "133249753" "subst" "0.00167765" "01804" "POLE_000079" "g.133249753G>A" "" "" "" "POLE(NM_006231.2):c.1470C>T (p.(Asp490=)), POLE(NM_006231.3):c.1470C>T (p.D490=), POLE(NM_006231.4):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000999844" "0" "10" "12" "133250197" "133250197" "subst" "0.00316211" "01804" "POLE_000186" "g.133250197C>T" "" "" "" "POLE(NM_006231.2):c.1323G>A (p.(Pro441=)), POLE(NM_006231.4):c.1323G>A (p.P441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000999845" "0" "90" "12" "133253184" "133253184" "subst" "0" "02327" "POLE_000338" "g.133253184G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999846" "0" "50" "12" "133254148" "133254148" "subst" "5.28331E-5" "01804" "POLE_000339" "g.133254148A>G" "" "" "" "POLE(NM_006231.2):c.720+16T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999847" "0" "50" "12" "133254193" "133254193" "subst" "0.000125907" "01804" "POLE_000193" "g.133254193G>A" "" "" "" "POLE(NM_006231.2):c.691C>T (p.(Arg231Cys)), POLE(NM_006231.4):c.691C>T (p.R231C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014940" "0" "50" "12" "133245212" "133245212" "subst" "0.000378732" "01804" "POLE_000177" "g.133245212G>A" "" "" "" "POLE(NM_006231.2):c.2026+9C>T (p.(=)), POLE(NM_006231.4):c.2026+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014941" "0" "90" "12" "133250250" "133250250" "subst" "0" "02325" "POLE_000001" "g.133250250G>C" "" "" "" "POLE(NM_006231.4):c.1270C>G (p.L424V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001016696" "0" "90" "12" "133249864" "133249899" "del" "0" "04749" "POLE_000340" "g.133249864_133249899del" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.132673278_132673313del" "" "pathogenic" "" "0001022589" "0" "30" "12" "133219818" "133219818" "subst" "0" "03779" "POLE_000341" "g.133219818G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs2138546000" "0" "" "" "" "" "likely benign" "" "0001026128" "0" "30" "12" "133202781" "133202781" "subst" "0.00180527" "01804" "POLE_000013" "g.133202781G>A" "" "" "" "POLE(NM_006231.2):c.6453C>T (p.(Tyr2151=)), POLE(NM_006231.3):c.6453C>T (p.Y2151=), POLE(NM_006231.4):c.6453C>T (p.Y2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026129" "0" "50" "12" "133202789" "133202789" "subst" "0.000105843" "02325" "POLE_000342" "g.133202789G>A" "" "" "" "POLE(NM_006231.4):c.6445C>T (p.R2149C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026130" "0" "50" "12" "133202789" "133202789" "subst" "0.000105843" "02329" "POLE_000342" "g.133202789G>A" "" "" "" "POLE(NM_006231.4):c.6445C>T (p.R2149C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026131" "0" "50" "12" "133208999" "133208999" "subst" "2.43653E-5" "02325" "POLE_000245" "g.133208999G>A" "" "" "" "POLE(NM_006231.3):c.6232C>T (p.R2078W), POLE(NM_006231.4):c.6232C>T (p.R2078W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026132" "0" "50" "12" "133209274" "133209274" "subst" "4.0776E-6" "02329" "POLE_000278" "g.133209274C>T" "" "" "" "POLE(NM_006231.4):c.6112G>A (p.E2038K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026133" "0" "70" "12" "133212564" "133212564" "subst" "0" "02327" "POLE_000343" "g.133212564G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026134" "0" "30" "12" "133218451" "133218451" "subst" "2.57358E-5" "02327" "POLE_000344" "g.133218451C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026135" "0" "30" "12" "133225607" "133225607" "subst" "0.000578911" "02327" "POLE_000160" "g.133225607T>C" "" "" "" "POLE(NM_006231.2):c.4057A>G (p.(Ser1353Gly)), POLE(NM_006231.3):c.4057A>G (p.S1353G), POLE(NM_006231.4):c.4057A>G (p.S1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026136" "0" "30" "12" "133226016" "133226016" "subst" "0.000115708" "02329" "POLE_000345" "g.133226016C>T" "" "" "" "POLE(NM_006231.4):c.3881G>A (p.R1294H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026137" "0" "30" "12" "133237753" "133237753" "subst" "0" "02325" "POLE_000346" "g.133237753G>T" "" "" "" "POLE(NM_006231.4):c.2865-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026138" "0" "30" "12" "133245025" "133245025" "subst" "0.000896703" "02329" "POLE_000174" "g.133245025G>C" "" "" "" "POLE(NM_006231.3):c.2090C>G (p.P697R), POLE(NM_006231.4):c.2090C>G (p.P697R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026139" "0" "30" "12" "133250173" "133250173" "subst" "0.00103387" "02329" "POLE_000082" "g.133250173C>T" "" "" "" "POLE(NM_006231.2):c.1347G>A (p.(Thr449=)), POLE(NM_006231.3):c.1347G>A (p.T449=), POLE(NM_006231.4):c.1347G>A (p.T449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026140" "0" "30" "12" "133253974" "133253974" "subst" "0.00519404" "02327" "POLE_000093" "g.133253974C>T" "" "" "" "POLE(NM_006231.2):c.776G>A (p.(Arg259His)), POLE(NM_006231.3):c.776G>A (p.R259H), POLE(NM_006231.4):c.776G>A (p.R259H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029898" "0" "50" "12" "133250155" "133250155" "subst" "0" "03779" "POLE_000347" "g.133250155A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1555228569" "0" "" "" "" "" "VUS" "" "0001039084" "0" "30" "12" "133202781" "133202781" "subst" "0.00180527" "02327" "POLE_000013" "g.133202781G>A" "" "" "" "POLE(NM_006231.2):c.6453C>T (p.(Tyr2151=)), POLE(NM_006231.3):c.6453C>T (p.Y2151=), POLE(NM_006231.4):c.6453C>T (p.Y2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039085" "0" "50" "12" "133208883" "133208883" "subst" "0.0034937" "01804" "POLE_000016" "g.133208883G>A" "" "" "" "POLE(NM_006231.2):c.6330+18C>T (p.(=)), POLE(NM_006231.4):c.6330+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039086" "0" "50" "12" "133209303" "133209303" "del" "0" "01804" "POLE_000348" "g.133209303del" "" "" "" "POLE(NM_006231.4):c.6088del (p.(Ala2030Profs*18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039087" "0" "50" "12" "133214596" "133214596" "subst" "0.0034634" "01804" "POLE_000026" "g.133214596G>A" "" "" "" "POLE(NM_006231.2):c.5678+4C>T (p.?), POLE(NM_006231.4):c.5678+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039088" "0" "50" "12" "133214625" "133214625" "subst" "4.8752E-5" "01804" "POLE_000349" "g.133214625C>T" "" "" "" "POLE(NM_006231.4):c.5653G>A (p.(Ala1885Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039089" "0" "50" "12" "133215783" "133215783" "subst" "2.43663E-5" "02327" "POLE_000350" "g.133215783G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039090" "0" "50" "12" "133215825" "133215825" "subst" "0" "01804" "POLE_000351" "g.133215825T>A" "" "" "" "POLE(NM_006231.4):c.5438A>T (p.(Tyr1813Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039091" "0" "30" "12" "133215912" "133215912" "subst" "0.000872464" "02329" "POLE_000352" "g.133215912G>A" "" "" "" "POLE(NM_006231.4):c.5379-28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039092" "0" "30" "12" "133218746" "133218746" "subst" "0.000233593" "02327" "POLE_000031" "g.133218746T>C" "" "" "" "POLE(NM_006231.2):c.5173+17A>G (p.(=)), POLE(NM_006231.3):c.5173+17A>G, POLE(NM_006231.4):c.5173+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039093" "0" "30" "12" "133220454" "133220454" "subst" "0.00358219" "02327" "POLE_000047" "g.133220454G>A" "" "" "" "POLE(NM_006231.2):c.4259C>T (p.(Ala1420Val)), POLE(NM_006231.3):c.4259C>T (p.A1420V), POLE(NM_006231.4):c.4259C>T (p.A1420V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039094" "0" "30" "12" "133225609" "133225609" "subst" "0.000110158" "02327" "POLE_000050" "g.133225609C>G" "" "" "" "POLE(NM_006231.4):c.4055G>C (p.G1352A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039095" "0" "50" "12" "133225927" "133225927" "subst" "7.77344E-5" "01804" "POLE_000051" "g.133225927G>A" "" "" "" "POLE(NM_006231.4):c.3970C>T (p.R1324C, p.(Arg1324Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039096" "0" "50" "12" "133226040" "133226040" "subst" "5.46903E-5" "01804" "POLE_000052" "g.133226040C>T" "" "" "" "POLE(NM_006231.3):c.3857G>A (p.R1286H), POLE(NM_006231.4):c.3857G>A (p.(Arg1286His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039097" "0" "50" "12" "133235896" "133235896" "subst" "0" "01804" "POLE_000353" "g.133235896G>A" "" "" "" "POLE(NM_006231.4):c.3260C>T (p.(Ser1087Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039098" "0" "10" "12" "133240967" "133240967" "subst" "0.00345439" "02327" "POLE_000116" "g.133240967G>A" "" "" "" "POLE(NM_006231.2):c.2550C>T (p.(Ile850=)), POLE(NM_006231.4):c.2550C>T (p.I850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001039099" "0" "50" "12" "133244944" "133244944" "subst" "0.000322756" "01804" "POLE_000172" "g.133244944G>A" "" "" "" "POLE(NM_006231.4):c.2171C>T (p.(Ala724Val), p.A724V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039100" "0" "50" "12" "133249383" "133249383" "subst" "8.13729E-6" "02326" "POLE_000078" "g.133249383T>C" "" "" "" "POLE(NM_006231.3):c.1516A>G (p.M506V), POLE(NM_006231.4):c.1516A>G (p.M506V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039101" "0" "50" "12" "133249838" "133249838" "subst" "0" "01804" "POLE_000354" "g.133249838T>C" "" "" "" "POLE(NM_006231.4):c.1385A>G (p.(Asp462Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039102" "0" "50" "12" "133252318" "133252318" "subst" "0" "01804" "POLE_000355" "g.133252318C>G" "" "" "" "POLE(NM_006231.4):c.1106+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039103" "0" "50" "12" "133253136" "133253136" "subst" "0" "01804" "POLE_000356" "g.133253136C>T" "" "" "" "POLE(NM_006231.4):c.905G>A (p.(Gly302Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039104" "0" "50" "12" "133253971" "133253971" "subst" "0.000836501" "01804" "POLE_000092" "g.133253971C>T" "" "" "" "POLE(NM_006231.2):c.779G>A (p.(Arg260Gln)), POLE(NM_006231.4):c.779G>A (p.R260Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039105" "0" "30" "12" "133254275" "133254275" "subst" "0" "02327" "POLE_000357" "g.133254275A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039106" "0" "30" "12" "133263886" "133263886" "subst" "0.0025492" "02327" "POLE_000108" "g.133263886C>G" "" "" "" "POLE(NM_006231.2):c.16G>C (p.(Gly6Arg)), POLE(NM_006231.3):c.16G>C (p.G6R), POLE(NM_006231.4):c.16G>C (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039107" "0" "70" "12" "133263900" "133263900" "subst" "2.856E-5" "01804" "POLE_000358" "g.133263900A>G" "" "" "" "POLE(NM_006231.4):c.2T>C (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039108" "0" "50" "12" "133263901" "133263901" "subst" "5.71973E-5" "01804" "POLE_000275" "g.133263901T>A" "" "" "" "POLE(NM_006231.4):c.1A>T (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039109" "0" "50" "12" "133263901" "133263901" "subst" "5.71973E-5" "02327" "POLE_000275" "g.133263901T>A" "" "" "" "POLE(NM_006231.4):c.1A>T (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045451" "0" "30" "12" "133245025" "133245025" "subst" "0.000896703" "03779" "POLE_000174" "g.133245025G>C" "" "" "" "" "" "Unknown" "" "rs36120395" "0" "" "" "" "" "likely benign" "" "0001045471" "0" "50" "12" "133214619" "133214619" "subst" "0.000479472" "03779" "POLE_000027" "g.133214619C>T" "" "" "" "" "" "Unknown" "" "rs114119067" "0" "" "" "" "" "VUS" "" "0001046362" "0" "30" "12" "133208882" "133208882" "subst" "0.00307952" "01804" "POLE_000015" "g.133208882C>T" "" "" "" "POLE(NM_006231.2):c.6330+19G>A (p.(=)), POLE(NM_006231.3):c.6330+19G>A, POLE(NM_006231.4):c.6330+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046363" "0" "10" "12" "133214695" "133214695" "subst" "0.00230256" "01804" "POLE_000028" "g.133214695T>G" "" "" "" "POLE(NM_006231.2):c.5583A>C (p.(Ser1861=)), POLE(NM_006231.3):c.5583A>C (p.S1861=), POLE(NM_006231.4):c.5583A>C (p.S1861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046364" "0" "50" "12" "133218272" "133218272" "subst" "2.44035E-5" "02325" "POLE_000359" "g.133218272G>C" "" "" "" "POLE(NM_006231.4):c.5339C>G (p.A1780G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046365" "0" "30" "12" "133219838" "133219838" "subst" "0.00107424" "02327" "POLE_000040" "g.133219838C>T" "" "" "" "POLE(NM_006231.2):c.4523G>A (p.(Arg1508His)), POLE(NM_006231.3):c.4523G>A (p.R1508H), POLE(NM_006231.4):c.4523G>A (p.R1508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046366" "0" "50" "12" "133226019" "133226021" "dup" "0" "02325" "POLE_000360" "g.133226019_133226021dup" "" "" "" "POLE(NM_006231.4):c.3878_3880dupAGC (p.Q1293dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046367" "0" "10" "12" "133235866" "133235891" "dup" "0" "01804" "POLE_000166" "g.133235866_133235891dup" "" "" "" "POLE(NM_006231.2):c.3265_3275+15dup (p.?), POLE(NM_006231.3):c.3275+15_3275+16insGGGGGGAGCCCTCACCTCTCCGTGAC, POLE(NM_006231.4):c.3275+15_3275+16ins..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046368" "0" "30" "12" "133241007" "133241007" "subst" "0.000268101" "02327" "POLE_000361" "g.133241007A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046369" "0" "10" "12" "133252693" "133252693" "subst" "0.0019584" "01804" "POLE_000086" "g.133252693T>C" "" "" "" "POLE(NM_006231.2):c.1007A>G (p.(Asn336Ser)), POLE(NM_006231.4):c.1007A>G (p.N336S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046370" "0" "30" "12" "133256100" "133256100" "subst" "0.000195033" "02327" "POLE_000097" "g.133256100G>A" "" "" "" "POLE(NM_006231.4):c.561C>T (p.Y187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048644" "0" "50" "12" "133240616" "133240616" "subst" "0" "03779" "POLE_000362" "g.133240616C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001049023" "0" "50" "12" "133256560" "133256560" "subst" "4.06478E-6" "03779" "POLE_000363" "g.133256560G>A" "" "" "" "" "" "Unknown" "" "rs1060500817" "0" "" "" "" "" "VUS" "" "0001049078" "0" "50" "12" "133256560" "133256560" "subst" "4.06478E-6" "03779" "POLE_000363" "g.133256560G>A" "" "" "" "" "" "Unknown" "" "rs1060500817" "0" "" "" "" "" "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 POLE ## Count = 633 "{{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}}" "0000016959" "00001771" "99" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(Leu424Val)" "13" "0000016964" "00001771" "77" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(Leu424Val)" "12" "0000036406" "00001771" "75" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "P.(Leu424Val)" "12" "0000040248" "00001771" "70" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(Leu424Val)" "13" "0000040256" "00001771" "70" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(Leu424Val)" "13" "0000040263" "00001771" "70" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(Leu424Val)" "13" "0000040264" "00001771" "70" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(Leu424Val)" "13" "0000041000" "00001771" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0000041001" "00001771" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0000041002" "00001771" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0000041309" "00001771" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0000041311" "00001771" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0000041312" "00001771" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0000044476" "00001771" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0000044477" "00001771" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0000044479" "00001771" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0000076979" "00001771" "50" "861" "0" "861" "0" "c.861T>A" "r.(?)" "p.(Asp287Glu)" "9" "0000247067" "00001771" "10" "2865" "-4" "2865" "-4" "c.2865-4del" "r.spl?" "p.?" "" "0000247085" "00001771" "10" "2083" "0" "2083" "0" "c.2083T>A" "r.(?)" "p.(Phe695Ile)" "" "0000247086" "00001771" "10" "3379" "-5" "3379" "-5" "c.3379-5T>C" "r.spl?" "p.?" "" "0000247140" "00001771" "10" "4444" "4" "4444" "4" "c.4444+4T>A" "r.spl?" "p.?" "" "0000247159" "00001771" "30" "318" "0" "318" "0" "c.318T>C" "r.(?)" "p.(Ile106=)" "" "0000247168" "00001771" "30" "204" "9" "204" "9" "c.204+9T>C" "r.(=)" "p.(=)" "" "0000249163" "00001771" "10" "2865" "-4" "2865" "-4" "c.2865-4del" "r.spl?" "p.?" "" "0000249861" "00001771" "10" "2865" "-4" "2865" "-4" "c.2865-4del" "r.spl?" "p.?" "" "0000249998" "00001771" "10" "2083" "0" "2083" "0" "c.2083T>A" "r.(?)" "p.(Phe695Ile)" "" "0000250001" "00001771" "10" "3379" "-5" "3379" "-5" "c.3379-5T>C" "r.spl?" "p.?" "" "0000250311" "00001771" "30" "6210" "0" "6210" "0" "c.6210T>A" "r.(?)" "p.(Ile2070=)" "" "0000250312" "00001771" "30" "996" "0" "996" "0" "c.996T>C" "r.(?)" "p.(Phe332=)" "" "0000250567" "00001771" "50" "2773" "0" "2773" "0" "c.2773T>C" "r.(?)" "p.(Ser925Pro)" "" "0000250610" "00001771" "10" "2865" "-4" "2865" "-4" "c.2865-4del" "r.spl?" "p.?" "" "0000250858" "00001771" "10" "2083" "0" "2083" "0" "c.2083T>A" "r.(?)" "p.(Phe695Ile)" "" "0000250861" "00001771" "10" "3379" "-5" "3379" "-5" "c.3379-5T>C" "r.spl?" "p.?" "" "0000252962" "00001771" "10" "2865" "-4" "2865" "-4" "c.2865-4del" "r.spl?" "p.?" "" "0000254900" "00001771" "30" "11525" "0" "11525" "0" "c.*4664T>C" "r.(=)" "p.(=)" "" "0000294126" "00001771" "10" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Asn336Ser)" "" "0000294127" "00001771" "30" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Ala430Thr)" "" "0000294128" "00001771" "30" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446Gln)" "" "0000294129" "00001771" "10" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Leu469=)" "" "0000294130" "00001771" "30" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Pro489=)" "" "0000294131" "00001771" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Asp490=)" "" "0000294132" "00001771" "30" "1588" "0" "1588" "0" "c.1588G>T" "r.(?)" "p.(Asp530Tyr)" "" "0000294133" "00001771" "30" "1695" "0" "1695" "0" "c.1695C>T" "r.(?)" "p.(Ala565=)" "" "0000294134" "00001771" "30" "16" "0" "16" "0" "c.16G>C" "r.(?)" "p.(Gly6Arg)" "" "0000294136" "00001771" "30" "2087" "0" "2087" "0" "c.2087C>T" "r.(?)" "p.(Pro696Leu)" "" "0000294137" "00001771" "10" "2174" "-8" "2174" "-8" "c.2174-8G>A" "r.(=)" "p.(=)" "" "0000294138" "00001771" "30" "2214" "0" "2214" "0" "c.2214G>C" "r.(?)" "p.(Lys738Asn)" "" "0000294139" "00001771" "10" "2320" "-13" "2320" "-13" "c.2320-13A>G" "r.(=)" "p.(=)" "" "0000294140" "00001771" "10" "2340" "0" "2340" "0" "c.2340G>A" "r.(?)" "p.(Ser780=)" "" "0000294141" "00001771" "10" "2469" "-15" "2469" "-15" "c.2469-15G>A" "r.(=)" "p.(=)" "" "0000294142" "00001771" "10" "2550" "0" "2550" "0" "c.2550C>T" "r.(?)" "p.(Ile850=)" "" "0000294143" "00001771" "30" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Ile)" "" "0000294144" "00001771" "30" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Ile87Val)" "" "0000294145" "00001771" "10" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Asp90=)" "" "0000294147" "00001771" "10" "2928" "0" "2928" "0" "c.2928C>T" "r.(?)" "p.(Arg976=)" "" "0000294148" "00001771" "10" "3126" "0" "3126" "0" "c.3126G>A" "r.(?)" "p.(Lys1042=)" "" "0000294149" "00001771" "10" "3156" "0" "3156" "0" "c.3156G>A" "r.(?)" "p.(Thr1052=)" "" "0000294150" "00001771" "30" "3183" "0" "3183" "0" "c.3183C>T" "r.(?)" "p.(Ala1061=)" "" "0000294151" "00001771" "30" "3245" "0" "3245" "0" "c.3245G>A" "r.(?)" "p.(Arg1082His)" "" "0000294152" "00001771" "30" "3269" "0" "3269" "0" "c.3269C>T" "r.(?)" "p.(Thr1090Met)" "" "0000294154" "00001771" "10" "3582" "17" "3582" "17" "c.3582+17A>G" "r.(=)" "p.(=)" "" "0000294155" "00001771" "30" "3695" "0" "3695" "0" "c.3695A>C" "r.(?)" "p.(Lys1232Thr)" "" "0000294156" "00001771" "30" "3970" "0" "3970" "0" "c.3970C>T" "r.(?)" "p.(Arg1324Cys)" "" "0000294157" "00001771" "30" "4100" "0" "4100" "0" "c.4100A>G" "r.(?)" "p.(Tyr1367Cys)" "" "0000294158" "00001771" "10" "4187" "0" "4187" "0" "c.4187A>G" "r.(?)" "p.(Asn1396Ser)" "" "0000294159" "00001771" "10" "424" "-10" "424" "-10" "c.424-10C>T" "r.(=)" "p.(=)" "" "0000294160" "00001771" "10" "4259" "0" "4259" "0" "c.4259C>T" "r.(?)" "p.(Ala1420Val)" "" "0000294161" "00001771" "10" "4290" "5" "4290" "5" "c.4290+5C>T" "r.spl?" "p.?" "" "0000294162" "00001771" "30" "4295" "0" "4295" "0" "c.4295C>T" "r.(?)" "p.(Pro1432Leu)" "" "0000294163" "00001771" "30" "4500" "0" "4500" "0" "c.4500C>T" "r.(?)" "p.(Phe1500=)" "" "0000294164" "00001771" "30" "4523" "0" "4523" "0" "c.4523G>A" "r.(?)" "p.(Arg1508His)" "" "0000294165" "00001771" "10" "4530" "0" "4530" "0" "c.4530A>G" "r.(?)" "p.(Ala1510=)" "" "0000294166" "00001771" "10" "4552" "-10" "4552" "-10" "c.4552-10G>T" "r.(=)" "p.(=)" "" "0000294167" "00001771" "30" "4552" "-19" "4552" "-19" "c.4552-19G>A" "r.(=)" "p.(=)" "" "0000294168" "00001771" "10" "4645" "0" "4645" "0" "c.4645C>G" "r.(?)" "p.(Pro1549Ala)" "" "0000294170" "00001771" "10" "5253" "0" "5253" "0" "c.5253C>T" "r.(?)" "p.(Ala1751=)" "" "0000294171" "00001771" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ser184=)" "" "0000294172" "00001771" "10" "5583" "0" "5583" "0" "c.5583A>C" "r.(?)" "p.(Ser1861=)" "" "0000294173" "00001771" "10" "5678" "4" "5678" "4" "c.5678+4C>T" "r.spl?" "p.?" "" "0000294174" "00001771" "10" "5707" "0" "5707" "0" "c.5707C>T" "r.(?)" "p.(Leu1903=)" "" "0000294175" "00001771" "30" "579" "-14" "579" "-13" "c.579-14_579-13del" "r.(=)" "p.(=)" "" "0000294176" "00001771" "30" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Cys1935Tyr)" "" "0000294177" "00001771" "30" "6004" "11" "6004" "11" "c.6004+11A>G" "r.(=)" "p.(=)" "" "0000294178" "00001771" "10" "62" "15" "62" "15" "c.62+15C>T" "r.(=)" "p.(=)" "" "0000294179" "00001771" "10" "6252" "0" "6252" "0" "c.6252A>G" "r.(?)" "p.(Ser2084=)" "" "0000294180" "00001771" "30" "6286" "0" "6286" "0" "c.6286C>G" "r.(?)" "p.(Leu2096Val)" "" "0000294181" "00001771" "10" "6330" "15" "6330" "15" "c.6330+15G>A" "r.(=)" "p.(=)" "" "0000294182" "00001771" "10" "6330" "18" "6330" "18" "c.6330+18C>T" "r.(=)" "p.(=)" "" "0000294183" "00001771" "10" "6330" "19" "6330" "19" "c.6330+19G>A" "r.(=)" "p.(=)" "" "0000294184" "00001771" "10" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Glu2140Lys)" "" "0000294185" "00001771" "10" "6453" "0" "6453" "0" "c.6453C>T" "r.(?)" "p.(Tyr2151=)" "" "0000294186" "00001771" "30" "6476" "0" "6476" "0" "c.6476G>A" "r.(?)" "p.(Arg2159His)" "" "0000294187" "00001771" "10" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000294188" "00001771" "10" "6657" "16" "6657" "16" "c.6657+16C>T" "r.(=)" "p.(=)" "" "0000294189" "00001771" "10" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(Arg2225=)" "" "0000294190" "00001771" "30" "6730" "0" "6730" "0" "c.6730C>T" "r.(?)" "p.(Leu2244Phe)" "" "0000294191" "00001771" "30" "6763" "0" "6763" "0" "c.6763A>T" "r.(?)" "p.(Ile2255Phe)" "" "0000294192" "00001771" "10" "6817" "0" "6817" "0" "c.6817A>T" "r.(?)" "p.(Thr2273Ser)" "" "0000294193" "00001771" "30" "6820" "0" "6820" "0" "c.6820C>G" "r.(?)" "p.(Leu2274Val)" "" "0000294194" "00001771" "30" "710" "0" "710" "0" "c.710A>C" "r.(?)" "p.(Lys237Thr)" "" "0000294195" "00001771" "30" "774" "0" "774" "0" "c.774C>G" "r.(?)" "p.(Thr258=)" "" "0000294196" "00001771" "30" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "" "0000294197" "00001771" "30" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Arg260Gln)" "" "0000294198" "00001771" "10" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Pro282=)" "" "0000294199" "00001771" "30" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Ser30=)" "" "0000294200" "00001771" "10" "910" "-6" "910" "-6" "c.910-6G>C" "r.(=)" "p.(=)" "" "0000294201" "00001771" "10" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Ala31Ser)" "" "0000297212" "00001771" "50" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Met506Val)" "" "0000297213" "00001771" "30" "3245" "0" "3245" "0" "c.3245G>A" "r.(?)" "p.(Arg1082His)" "" "0000297214" "00001771" "50" "4055" "0" "4055" "0" "c.4055G>C" "r.(?)" "p.(Gly1352Ala)" "" "0000297215" "00001771" "50" "4520" "0" "4520" "0" "c.4520A>G" "r.(?)" "p.(Gln1507Arg)" "" "0000297217" "00001771" "30" "5124" "0" "5124" "0" "c.5124C>T" "r.(?)" "p.(Phe1708=)" "" "0000297218" "00001771" "30" "5659" "0" "5659" "0" "c.5659G>A" "r.(?)" "p.(Val1887Met)" "" "0000297219" "00001771" "30" "6763" "0" "6763" "0" "c.6763A>T" "r.(?)" "p.(Ile2255Phe)" "" "0000298997" "00001771" "10" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Asn336Ser)" "" "0000298998" "00001771" "30" "1089" "0" "1089" "0" "c.1089C>T" "r.(?)" "p.(Asn363=)" "" "0000298999" "00001771" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Asp490=)" "" "0000299000" "00001771" "30" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Asp530Asn)" "" "0000299001" "00001771" "30" "1794" "10" "1794" "10" "c.1794+10A>T" "r.(=)" "p.(=)" "" "0000299002" "00001771" "10" "2174" "-8" "2174" "-8" "c.2174-8G>A" "r.(=)" "p.(=)" "" "0000299003" "00001771" "10" "2320" "-13" "2320" "-13" "c.2320-13A>G" "r.(=)" "p.(=)" "" "0000299004" "00001771" "10" "2340" "0" "2340" "0" "c.2340G>A" "r.(?)" "p.(Ser780=)" "" "0000299005" "00001771" "10" "2468" "10" "2468" "10" "c.2468+10C>T" "r.(=)" "p.(=)" "" "0000299007" "00001771" "30" "2865" "-5" "2865" "-4" "c.2865-5_2865-4del" "r.spl?" "p.?" "" "0000299008" "00001771" "30" "2865" "-6" "2865" "-4" "c.2865-6_2865-4del" "r.spl?" "p.?" "" "0000299009" "00001771" "30" "3245" "0" "3245" "0" "c.3245G>A" "r.(?)" "p.(Arg1082His)" "" "0000299010" "00001771" "30" "3270" "0" "3270" "0" "c.3270G>A" "r.(?)" "p.(Thr1090=)" "" "0000299011" "00001771" "50" "3365" "0" "3366" "0" "c.3365_3366del" "r.(?)" "p.(Phe1122Ter)" "" "0000299012" "00001771" "30" "3651" "0" "3651" "0" "c.3651C>T" "r.(?)" "p.(Leu1217=)" "" "0000299013" "00001771" "30" "3747" "0" "3747" "0" "c.3747G>A" "r.(?)" "p.(Val1249=)" "" "0000299014" "00001771" "10" "4259" "0" "4259" "0" "c.4259C>T" "r.(?)" "p.(Ala1420Val)" "" "0000299015" "00001771" "30" "4290" "5" "4290" "5" "c.4290+5C>T" "r.spl?" "p.?" "" "0000299016" "00001771" "50" "4337" "0" "4338" "0" "c.4337_4338del" "r.(?)" "p.(Val1446GlyfsTer3)" "" "0000299017" "00001771" "30" "4412" "0" "4412" "0" "c.4412G>A" "r.(?)" "p.(Arg1471His)" "" "0000299018" "00001771" "30" "4523" "0" "4523" "0" "c.4523G>A" "r.(?)" "p.(Arg1508His)" "" "0000299019" "00001771" "10" "4552" "-10" "4552" "-10" "c.4552-10G>T" "r.(=)" "p.(=)" "" "0000299021" "00001771" "10" "5135" "0" "5135" "0" "c.5135C>T" "r.(?)" "p.(Ala1712Val)" "" "0000299022" "00001771" "30" "5173" "17" "5173" "17" "c.5173+17A>G" "r.(=)" "p.(=)" "" "0000299023" "00001771" "10" "5570" "0" "5570" "0" "c.5570A>G" "r.(?)" "p.(Lys1857Arg)" "" "0000299024" "00001771" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Tyr187=)" "" "0000299025" "00001771" "10" "5678" "4" "5678" "4" "c.5678+4C>T" "r.spl?" "p.?" "" "0000299026" "00001771" "30" "5812" "-4" "5812" "-4" "c.5812-4A>G" "r.spl?" "p.?" "" "0000299027" "00001771" "30" "6004" "11" "6004" "11" "c.6004+11A>G" "r.(=)" "p.(=)" "" "0000299028" "00001771" "50" "6004" "5" "6004" "5" "c.6004+5G>T" "r.spl?" "p.?" "" "0000299029" "00001771" "10" "6330" "18" "6330" "18" "c.6330+18C>T" "r.(=)" "p.(=)" "" "0000299030" "00001771" "10" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Glu2140Lys)" "" "0000299031" "00001771" "30" "6453" "0" "6453" "0" "c.6453C>T" "r.(?)" "p.(Tyr2151=)" "" "0000299032" "00001771" "10" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000299033" "00001771" "30" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(Arg2225=)" "" "0000299034" "00001771" "30" "6714" "0" "6714" "0" "c.6714C>T" "r.(?)" "p.(Cys2238=)" "" "0000299035" "00001771" "10" "6763" "0" "6763" "0" "c.6763A>T" "r.(?)" "p.(Ile2255Phe)" "" "0000299036" "00001771" "30" "6820" "0" "6820" "0" "c.6820C>G" "r.(?)" "p.(Leu2274Val)" "" "0000299037" "00001771" "30" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "" "0000299038" "00001771" "30" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266Gln)" "" "0000299039" "00001771" "70" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Lys284Glu)" "" "0000299040" "00001771" "10" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Ala31Ser)" "" "0000301105" "00001771" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(Phe552=)" "" "0000301106" "00001771" "30" "3651" "0" "3651" "0" "c.3651C>T" "r.(?)" "p.(Leu1217=)" "" "0000301107" "00001771" "10" "4290" "5" "4290" "5" "c.4290+5C>T" "r.spl?" "p.?" "" "0000301108" "00001771" "30" "5173" "17" "5173" "17" "c.5173+17A>G" "r.(=)" "p.(=)" "" "0000301109" "00001771" "30" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Cys1935Tyr)" "" "0000301110" "00001771" "10" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Glu2140Lys)" "" "0000301111" "00001771" "30" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "" "0000301112" "00001771" "30" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Ala31Ser)" "" "0000304895" "00001771" "50" "9692" "0" "9692" "0" "c.*2831C>T" "r.(=)" "p.(=)" "" "0000304896" "00001771" "30" "12082" "0" "12082" "0" "c.*5221C>T" "r.(=)" "p.(=)" "" "0000306063" "00001771" "30" "1347" "0" "1347" "0" "c.1347G>A" "r.(?)" "p.(Thr449=)" "" "0000306064" "00001771" "50" "1658" "0" "1658" "0" "c.1658G>A" "r.(?)" "p.(Arg553His)" "" "0000306065" "00001771" "30" "16" "0" "16" "0" "c.16G>C" "r.(?)" "p.(Gly6Arg)" "" "0000306066" "00001771" "50" "1715" "0" "1715" "0" "c.1715A>G" "r.(?)" "p.(Gln572Arg)" "" "0000306067" "00001771" "50" "1738" "0" "1738" "0" "c.1738C>A" "r.(?)" "p.(His580Asn)" "" "0000306068" "00001771" "50" "2343" "0" "2345" "0" "c.2343_2345del" "r.(?)" "p.(Ala782del)" "" "0000306069" "00001771" "30" "2409" "0" "2409" "0" "c.2409G>A" "r.(?)" "p.(Ser803=)" "" "0000306070" "00001771" "50" "2639" "0" "2639" "0" "c.2639C>T" "r.(?)" "p.(Thr880Met)" "" "0000306071" "00001771" "30" "2974" "0" "2974" "0" "c.2974G>A" "r.(?)" "p.(Ala992Thr)" "" "0000306072" "00001771" "30" "3411" "0" "3411" "0" "c.3411G>A" "r.(?)" "p.(Leu1137=)" "" "0000306073" "00001771" "50" "3857" "0" "3857" "0" "c.3857G>A" "r.(?)" "p.(Arg1286His)" "" "0000306074" "00001771" "30" "4259" "0" "4259" "0" "c.4259C>T" "r.(?)" "p.(Ala1420Val)" "" "0000306075" "00001771" "30" "4523" "0" "4523" "0" "c.4523G>A" "r.(?)" "p.(Arg1508His)" "" "0000306076" "00001771" "30" "5659" "0" "5659" "0" "c.5659G>A" "r.(?)" "p.(Val1887Met)" "" "0000306077" "00001771" "30" "6453" "0" "6453" "0" "c.6453C>T" "r.(?)" "p.(Tyr2151=)" "" "0000306078" "00001771" "30" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(Arg2225=)" "" "0000306079" "00001771" "30" "6763" "0" "6763" "0" "c.6763A>T" "r.(?)" "p.(Ile2255Phe)" "" "0000323246" "00001771" "30" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000323247" "00001771" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446Gln)" "" "0000323248" "00001771" "50" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47Trp)" "" "0000323249" "00001771" "30" "16" "0" "16" "0" "c.16G>C" "r.(?)" "p.(Gly6Arg)" "" "0000337146" "00001771" "10" "6657" "16" "6657" "16" "c.6657+16C>T" "r.(=)" "p.(=)" "" "0000337147" "00001771" "10" "6532" "-72" "6532" "-72" "c.6532-72C>T" "r.(=)" "p.(=)" "" "0000337148" "00001771" "10" "6330" "15" "6330" "15" "c.6330+15G>A" "r.(=)" "p.(=)" "" "0000337149" "00001771" "10" "3582" "17" "3582" "17" "c.3582+17A>G" "r.(=)" "p.(=)" "" "0000337150" "00001771" "10" "910" "-6" "910" "-6" "c.910-6G>C" "r.(=)" "p.(=)" "" "0000337151" "00001771" "10" "721" "-54" "721" "-54" "c.721-54A>G" "r.(=)" "p.(=)" "" "0000337152" "00001771" "10" "62" "15" "62" "15" "c.62+15C>T" "r.(=)" "p.(=)" "" "0000339071" "00001771" "30" "9801" "0" "9801" "0" "c.*2940G>A" "r.(=)" "p.(=)" "" "0000339400" "00001771" "10" "1359" "43" "1359" "43" "c.1359+43G>A" "r.(=)" "p.(=)" "" "0000340627" "00001771" "10" "4530" "0" "4530" "0" "c.4530A>G" "r.(?)" "p.(Ala1510=)" "" "0000340953" "00001771" "10" "6252" "0" "6252" "0" "c.6252A>G" "r.(?)" "p.(Ser2084=)" "" "0000340987" "00001771" "10" "3156" "0" "3156" "0" "c.3156G>A" "r.(?)" "p.(Thr1052=)" "" "0000341372" "00001771" "10" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Ala31Ser)" "" "0000342914" "00001771" "30" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446Gln)" "" "0000344340" "00001771" "50" "10497" "0" "10497" "0" "c.*3636A>G" "r.(=)" "p.(=)" "" "0000347164" "00001771" "90" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(Leu424Val)" "" "0000369642" "00001771" "90" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Pro13Ser)" "" "0000408013" "00001771" "90" "833" "0" "833" "0" "c.833C>A" "r.(?)" "p.(Thr278Lys)" "" "0000470390" "00001771" "50" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "9" "0000547150" "00001771" "30" "12737" "0" "12737" "0" "c.*5876G>A" "r.(=)" "p.(=)" "" "0000547151" "00001771" "10" "11050" "0" "11050" "0" "c.*4189G>A" "r.(=)" "p.(=)" "" "0000547152" "00001771" "50" "11041" "0" "11041" "0" "c.*4180G>A" "r.(=)" "p.(=)" "" "0000547153" "00001771" "30" "10987" "0" "10987" "0" "c.*4126C>T" "r.(=)" "p.(=)" "" "0000547154" "00001771" "30" "10511" "0" "10511" "0" "c.*3650A>G" "r.(=)" "p.(=)" "" "0000547155" "00001771" "30" "10501" "0" "10501" "0" "c.*3640C>T" "r.(=)" "p.(=)" "" "0000547156" "00001771" "50" "10245" "0" "10245" "0" "c.*3384C>T" "r.(=)" "p.(=)" "" "0000547157" "00001771" "50" "10023" "0" "10023" "0" "c.*3162C>T" "r.(=)" "p.(=)" "" "0000547158" "00001771" "30" "9925" "0" "9925" "0" "c.*3064G>A" "r.(=)" "p.(=)" "" "0000547159" "00001771" "10" "9670" "0" "9670" "0" "c.*2809A>T" "r.(=)" "p.(=)" "" "0000547160" "00001771" "30" "6795" "0" "6795" "0" "c.6795C>T" "r.(?)" "p.(Tyr2265=)" "" "0000547161" "00001771" "30" "6714" "0" "6714" "0" "c.6714C>T" "r.(?)" "p.(Cys2238=)" "" "0000547162" "00001771" "30" "6674" "0" "6674" "0" "c.6674G>A" "r.(?)" "p.(Arg2225His)" "" "0000547163" "00001771" "30" "6658" "-7" "6658" "-7" "c.6658-7C>A" "r.(=)" "p.(=)" "" "0000547164" "00001771" "30" "6658" "-18" "6658" "-18" "c.6658-18G>A" "r.(=)" "p.(=)" "" "0000547165" "00001771" "30" "6539" "0" "6539" "0" "c.6539C>T" "r.(?)" "p.(Ala2180Val)" "" "0000547166" "00001771" "10" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000547167" "00001771" "30" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Glu2140Lys)" "" "0000547168" "00001771" "50" "6065" "0" "6065" "0" "c.6065G>A" "r.(?)" "p.(Ser2022Asn)" "" "0000547169" "00001771" "10" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Cys1935Tyr)" "" "0000547170" "00001771" "10" "5707" "0" "5707" "0" "c.5707C>T" "r.(?)" "p.(Leu1903=)" "" "0000547171" "00001771" "10" "5334" "0" "5334" "0" "c.5334C>T" "r.(?)" "p.(Ala1778=)" "" "0000547172" "00001771" "10" "5173" "18" "5173" "18" "c.5173+18C>T" "r.(=)" "p.(=)" "" "0000547173" "00001771" "10" "4952" "17" "4952" "19" "c.4952+17_4952+19dup" "r.(=)" "p.(=)" "" "0000547174" "00001771" "10" "4952" "17" "4952" "19" "c.4952+17_4952+19dup" "r.(=)" "p.(=)" "" "0000547175" "00001771" "30" "4952" "17" "4952" "19" "c.4952+17_4952+19dup" "r.(=)" "p.(=)" "" "0000547176" "00001771" "50" "4882" "0" "4882" "0" "c.4882G>A" "r.(?)" "p.(Gly1628Arg)" "" "0000547177" "00001771" "30" "4736" "0" "4736" "0" "c.4736G>A" "r.(?)" "p.(Arg1579His)" "" "0000547178" "00001771" "10" "4552" "-10" "4552" "-10" "c.4552-10G>T" "r.(=)" "p.(=)" "" "0000547179" "00001771" "10" "4444" "4" "4444" "4" "c.4444+4T>A" "r.spl?" "p.?" "" "0000547180" "00001771" "30" "4408" "0" "4408" "0" "c.4408A>T" "r.(?)" "p.(Met1470Leu)" "" "0000547181" "00001771" "30" "4307" "0" "4307" "0" "c.4307G>A" "r.(?)" "p.(Arg1436Gln)" "" "0000547182" "00001771" "30" "4306" "0" "4306" "0" "c.4306C>T" "r.(?)" "p.(Arg1436Trp)" "" "0000547183" "00001771" "30" "4291" "-12" "4291" "-12" "c.4291-12C>T" "r.(=)" "p.(=)" "" "0000547184" "00001771" "10" "4290" "5" "4290" "5" "c.4290+5C>T" "r.spl?" "p.?" "" "0000547185" "00001771" "30" "4259" "0" "4259" "0" "c.4259C>T" "r.(?)" "p.(Ala1420Val)" "" "0000547186" "00001771" "10" "4187" "0" "4187" "0" "c.4187A>G" "r.(?)" "p.(Asn1396Ser)" "" "0000547187" "00001771" "30" "4057" "0" "4057" "0" "c.4057A>G" "r.(?)" "p.(Ser1353Gly)" "" "0000547188" "00001771" "30" "4057" "0" "4057" "0" "c.4057A>G" "r.(?)" "p.(Ser1353Gly)" "" "0000547189" "00001771" "30" "4057" "0" "4057" "0" "c.4057A>G" "r.(?)" "p.(Ser1353Gly)" "" "0000547190" "00001771" "30" "4057" "0" "4057" "0" "c.4057A>G" "r.(?)" "p.(Ser1353Gly)" "" "0000547191" "00001771" "50" "3970" "0" "3970" "0" "c.3970C>T" "r.(?)" "p.(Arg1324Cys)" "" "0000547192" "00001771" "30" "3851" "0" "3851" "0" "c.3851G>A" "r.(?)" "p.(Arg1284Gln)" "" "0000547193" "00001771" "30" "3851" "0" "3851" "0" "c.3851G>A" "r.(?)" "p.(Arg1284Gln)" "" "0000547194" "00001771" "30" "3851" "0" "3851" "0" "c.3851G>A" "r.(?)" "p.(Arg1284Gln)" "" "0000547195" "00001771" "30" "3718" "0" "3718" "0" "c.3718G>A" "r.(?)" "p.(Glu1240Lys)" "" "0000547196" "00001771" "50" "3684" "0" "3684" "0" "c.3684del" "r.(?)" "p.(Val1229Ter)" "" "0000547197" "00001771" "30" "3651" "0" "3651" "0" "c.3651C>T" "r.(?)" "p.(Leu1217=)" "" "0000547198" "00001771" "30" "3645" "0" "3645" "0" "c.3645C>T" "r.(?)" "p.(Phe1215=)" "" "0000547199" "00001771" "10" "3465" "0" "3465" "0" "c.3465G>A" "r.(?)" "p.(Lys1155=)" "" "0000547200" "00001771" "10" "3379" "-5" "3379" "-5" "c.3379-5T>C" "r.spl?" "p.?" "" "0000547201" "00001771" "30" "3265" "0" "3275" "15" "c.3265_3275+15dup" "r.spl?" "p.?" "" "0000547202" "00001771" "50" "3230" "0" "3230" "0" "c.3230G>A" "r.(?)" "p.(Arg1077His)" "" "0000547203" "00001771" "10" "3126" "0" "3126" "0" "c.3126G>A" "r.(?)" "p.(Lys1042=)" "" "0000547204" "00001771" "10" "2865" "-5" "2865" "-4" "c.2865-5_2865-4del" "r.spl?" "p.?" "" "0000547205" "00001771" "50" "2865" "-4" "2865" "-4" "c.2865-4del" "r.spl?" "p.?" "" "0000547206" "00001771" "30" "2865" "-4" "2865" "-4" "c.2865-4dup" "r.spl?" "p.?" "" "0000547207" "00001771" "10" "2865" "-4" "2865" "-4" "c.2865-4dup" "r.spl?" "p.?" "" "0000547208" "00001771" "10" "2865" "-4" "2865" "-4" "c.2865-4dup" "r.spl?" "p.?" "" "0000547209" "00001771" "10" "2561" "6" "2561" "6" "c.2561+6T>C" "r.(=)" "p.(=)" "" "0000547210" "00001771" "10" "2550" "0" "2550" "0" "c.2550C>T" "r.(?)" "p.(Ile850=)" "" "0000547211" "00001771" "30" "2481" "0" "2481" "0" "c.2481C>T" "r.(?)" "p.(Tyr827=)" "" "0000547212" "00001771" "50" "2342" "0" "2342" "0" "c.2342C>T" "r.(?)" "p.(Ala781Val)" "" "0000547213" "00001771" "10" "2320" "-13" "2320" "-13" "c.2320-13A>G" "r.(=)" "p.(=)" "" "0000547214" "00001771" "30" "2171" "0" "2171" "0" "c.2171C>T" "r.(?)" "p.(Ala724Val)" "" "0000547216" "00001771" "30" "2090" "0" "2090" "0" "c.2090C>G" "r.(?)" "p.(Pro697Arg)" "" "0000547217" "00001771" "10" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Pro697Ser)" "" "0000547218" "00001771" "10" "2083" "0" "2083" "0" "c.2083T>A" "r.(?)" "p.(Phe695Ile)" "" "0000547219" "00001771" "30" "2026" "18" "2026" "62" "c.2026+18_2026+62dup" "r.(=)" "p.(=)" "" "0000547220" "00001771" "10" "2026" "9" "2026" "9" "c.2026+9C>T" "r.(=)" "p.(=)" "" "0000547221" "00001771" "30" "2026" "9" "2026" "9" "c.2026+9C>T" "r.(=)" "p.(=)" "" "0000547222" "00001771" "30" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Arg665Trp)" "" "0000547223" "00001771" "50" "1761" "0" "1761" "0" "c.1761A>G" "r.(?)" "p.(Lys587=)" "" "0000547224" "00001771" "30" "1599" "0" "1599" "0" "c.1599G>A" "r.(?)" "p.(Val533=)" "" "0000547225" "00001771" "30" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Asp530Asn)" "" "0000547226" "00001771" "30" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Ala509Thr)" "" "0000547227" "00001771" "30" "1360" "-6" "1360" "-6" "c.1360-6C>T" "r.(=)" "p.(=)" "" "0000547228" "00001771" "30" "1359" "58" "1359" "58" "c.1359+58C>T" "r.(=)" "p.(=)" "" "0000547229" "00001771" "30" "1359" "9" "1359" "9" "c.1359+9G>A" "r.(=)" "p.(=)" "" "0000547230" "00001771" "10" "1359" "9" "1359" "9" "c.1359+9G>A" "r.(=)" "p.(=)" "" "0000547231" "00001771" "50" "1357" "0" "1357" "0" "c.1357C>G" "r.(?)" "p.(Gln453Glu)" "" "0000547232" "00001771" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446Gln)" "" "0000547233" "00001771" "10" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Pro441=)" "" "0000547234" "00001771" "70" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Val411Met)" "" "0000547235" "00001771" "10" "1226" "45" "1226" "45" "c.1226+45C>T" "r.(=)" "p.(=)" "" "0000547236" "00001771" "30" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Ser382Asn)" "" "0000547237" "00001771" "50" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Met299Val)" "" "0000547238" "00001771" "30" "861" "0" "861" "0" "c.861T>A" "r.(?)" "p.(Asp287Glu)" "" "0000547239" "00001771" "50" "861" "0" "861" "0" "c.861T>A" "r.(?)" "p.(Asp287Glu)" "" "0000547240" "00001771" "30" "861" "0" "861" "0" "c.861T>A" "r.(?)" "p.(Asp287Glu)" "" "0000547241" "00001771" "30" "861" "0" "861" "0" "c.861T>A" "r.(?)" "p.(Asp287Glu)" "" "0000547242" "00001771" "30" "861" "0" "861" "0" "c.861T>A" "r.(?)" "p.(Asp287Glu)" "" "0000547243" "00001771" "50" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Lys284Glu)" "" "0000547244" "00001771" "50" "828" "0" "828" "0" "c.828T>G" "r.(?)" "p.(Ile276Met)" "" "0000547245" "00001771" "30" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Arg260Gln)" "" "0000547246" "00001771" "30" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "" "0000547247" "00001771" "10" "755" "0" "755" "0" "c.755C>T" "r.(?)" "p.(Ala252Val)" "" "0000547248" "00001771" "10" "755" "0" "755" "0" "c.755C>T" "r.(?)" "p.(Ala252Val)" "" "0000547249" "00001771" "50" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231Cys)" "" "0000547250" "00001771" "30" "510" "0" "510" "0" "c.510C>A" "r.(?)" "p.(Ile170=)" "" "0000547251" "00001771" "50" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Arg52Trp)" "" "0000547252" "00001771" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47Trp)" "" "0000547253" "00001771" "50" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47Trp)" "" "0000547254" "00001771" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47Trp)" "" "0000547255" "00001771" "30" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Ala31Ser)" "" "0000547256" "00001771" "30" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Asp23Gly)" "" "0000547257" "00001771" "30" "16" "0" "16" "0" "c.16G>C" "r.(?)" "p.(Gly6Arg)" "" "0000597241" "00001771" "50" "2683" "0" "2683" "0" "c.2683G>A" "r.(?)" "p.(Ala895Thr)" "" "0000597243" "00001771" "50" "6328" "0" "6328" "0" "c.6328A>G" "r.(?)" "p.(Lys2110Glu)" "" "0000604578" "00001771" "30" "5250" "0" "5250" "0" "c.5250G>A" "r.(=)" "p.(=)" "" "0000613964" "00001771" "50" "10427" "0" "10427" "0" "c.*3566C>G" "r.(=)" "p.(=)" "" "0000613965" "00001771" "30" "6767" "0" "6767" "0" "c.6767G>C" "r.(?)" "p.(Gly2256Ala)" "" "0000613966" "00001771" "50" "6658" "-10" "6663" "0" "c.6658-10_6663dup" "r.spl?" "p.?" "" "0000613967" "00001771" "30" "6006" "0" "6006" "0" "c.6006G>A" "r.(?)" "p.(Ala2002=)" "" "0000613968" "00001771" "90" "5397" "0" "5398" "0" "c.5397_5398dup" "r.(?)" "p.(Val1800AlafsTer5)" "" "0000613969" "00001771" "50" "4205" "0" "4205" "0" "c.4205T>C" "r.(?)" "p.(Val1402Ala)" "" "0000613970" "00001771" "30" "3862" "0" "3862" "0" "c.3862G>A" "r.(?)" "p.(Ala1288Thr)" "" "0000613971" "00001771" "50" "3831" "0" "3831" "0" "c.3831G>T" "r.(?)" "p.(Lys1277Asn)" "" "0000613972" "00001771" "30" "3411" "0" "3411" "0" "c.3411G>A" "r.(?)" "p.(Leu1137=)" "" "0000613973" "00001771" "30" "2654" "0" "2654" "0" "c.2654A>G" "r.(?)" "p.(Lys885Arg)" "" "0000613974" "00001771" "30" "2090" "0" "2090" "0" "c.2090C>G" "r.(?)" "p.(Pro697Arg)" "" "0000613975" "00001771" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(Phe552=)" "" "0000613976" "00001771" "30" "446" "0" "446" "0" "c.446A>G" "r.(?)" "p.(Lys149Arg)" "" "0000622825" "00001771" "10" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Cys1935Tyr)" "" "0000622826" "00001771" "50" "4552" "0" "4552" "0" "c.4552dup" "r.(?)" "p.(Val1518GlyfsTer27)" "" "0000622827" "00001771" "30" "3851" "0" "3851" "0" "c.3851G>A" "r.(?)" "p.(Arg1284Gln)" "" "0000622828" "00001771" "30" "3245" "0" "3245" "0" "c.3245G>A" "r.(?)" "p.(Arg1082His)" "" "0000648496" "00001771" "30" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000648497" "00001771" "30" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Glu2140Lys)" "" "0000648498" "00001771" "10" "4290" "5" "4290" "5" "c.4290+5C>T" "r.spl?" "p.?" "" "0000648499" "00001771" "50" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Ala430Thr)" "" "0000648500" "00001771" "50" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "" "0000648501" "00001771" "50" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47Trp)" "" "0000648502" "00001771" "10" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Ala31Ser)" "" "0000652991" "00001771" "50" "797" "0" "797" "0" "c.797G>T" "r.(?)" "p.(Arg266Leu)" "" "0000653557" "00001771" "50" "1742" "0" "1742" "0" "c.1742C>G" "r.(?)" "p.(Ala581Gly)" "" "0000657039" "00001771" "50" "11875" "0" "11875" "0" "c.*5014C>A" "r.(=)" "p.(=)" "" "0000657040" "00001771" "30" "6747" "11" "6747" "14" "c.6747+11_6747+14del" "r.(=)" "p.(=)" "" "0000657041" "00001771" "30" "6495" "0" "6495" "0" "c.6495C>T" "r.(?)" "p.(Arg2165=)" "" "0000657042" "00001771" "30" "4952" "20" "4952" "22" "c.4952+20_4952+22del" "r.(=)" "p.(=)" "" "0000657043" "00001771" "50" "4892" "0" "4892" "0" "c.4892G>A" "r.(?)" "p.(Arg1631His)" "" "0000657044" "00001771" "30" "3379" "-12" "3379" "-12" "c.3379-12C>T" "r.(=)" "p.(=)" "" "0000657045" "00001771" "30" "2773" "0" "2773" "0" "c.2773T>C" "r.(?)" "p.(Ser925Pro)" "" "0000657046" "00001771" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Ser)" "" "0000659774" "00001771" "50" "2683" "0" "2683" "0" "c.2683G>A" "r.(?)" "p.(Ala895Thr)" "" "0000665789" "00001771" "50" "5659" "0" "5659" "0" "c.5659G>A" "r.(?)" "p.(Val1887Met)" "" "0000669154" "00001771" "10" "4290" "5" "4290" "5" "c.4290+5C>T" "r.spl?" "p.?" "" "0000679439" "00001771" "10" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Pro441=)" "" "0000679440" "00001771" "30" "204" "12" "204" "12" "c.204+12G>A" "r.(=)" "p.(=)" "" "0000687262" "00001771" "50" "3379" "-1" "3379" "-1" "c.3379-1G>C" "r.spl?" "p.?" "" "0000691290" "00001771" "30" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(Arg2225=)" "" "0000691291" "00001771" "10" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Glu2140Lys)" "" "0000691292" "00001771" "10" "5334" "0" "5334" "0" "c.5334C>T" "r.(?)" "p.(Ala1778=)" "" "0000691293" "00001771" "30" "1905" "0" "1905" "0" "c.1905C>T" "r.(?)" "p.(Ile635=)" "" "0000691294" "00001771" "30" "1347" "0" "1347" "0" "c.1347G>A" "r.(?)" "p.(Thr449=)" "" "0000691295" "00001771" "10" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Pro441=)" "" "0000691296" "00001771" "50" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Pro267Leu)" "" "0000723923" "00001771" "30" "11826" "0" "11826" "0" "c.*4965G>C" "r.(=)" "p.(=)" "" "0000723924" "00001771" "50" "11823" "0" "11823" "0" "c.*4962del" "r.(?)" "p.(=)" "" "0000723925" "00001771" "50" "11670" "0" "11670" "0" "c.*4809G>T" "r.(=)" "p.(=)" "" "0000723926" "00001771" "50" "10080" "0" "10080" "0" "c.*3219C>T" "r.(=)" "p.(=)" "" "0000723927" "00001771" "50" "9851" "0" "9851" "0" "c.*2990G>A" "r.(=)" "p.(=)" "" "0000723928" "00001771" "30" "6707" "0" "6707" "0" "c.6707G>A" "r.(?)" "p.(Cys2236Tyr)" "" "0000723929" "00001771" "10" "5478" "0" "5478" "0" "c.5478G>T" "r.(?)" "p.(Arg1826=)" "" "0000723930" "00001771" "30" "4057" "0" "4057" "0" "c.4057A>G" "r.(?)" "p.(Ser1353Gly)" "" "0000723931" "00001771" "30" "2090" "0" "2090" "0" "c.2090C>G" "r.(?)" "p.(Pro697Arg)" "" "0000723932" "00001771" "50" "1738" "0" "1738" "0" "c.1738C>A" "r.(?)" "p.(His580Asn)" "" "0000723933" "00001771" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Asp490=)" "" "0000723934" "00001771" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446Gln)" "" "0000723935" "00001771" "50" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Pro267Leu)" "" "0000723936" "00001771" "50" "331" "-1" "331" "-1" "c.331-1G>C" "r.spl?" "p.?" "" "0000733921" "00001771" "50" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000733968" "00001771" "50" "3796" "0" "3796" "0" "c.3796G>A" "r.(?)" "p.(Glu1266Lys)" "" "0000734021" "00001771" "50" "6466" "0" "6466" "0" "c.6466G>A" "r.(?)" "p.(Val2156Ile)" "" "0000734141" "00001771" "50" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000734163" "00001771" "50" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000734164" "00001771" "50" "712" "0" "712" "0" "c.712A>T" "r.(?)" "p.(Ile238Phe)" "" "0000734208" "00001771" "50" "1346" "0" "1346" "0" "c.1346C>T" "r.(?)" "p.(Thr449Met)" "" "0000734235" "00001771" "50" "1346" "0" "1346" "0" "c.1346C>T" "r.(?)" "p.(Thr449Met)" "" "0000734427" "00001771" "50" "6410" "0" "6410" "0" "c.6410A>T" "r.(?)" "p.(Glu2137Val)" "" "0000734488" "00001771" "50" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000734512" "00001771" "50" "6668" "0" "6668" "0" "c.6668A>G" "r.(?)" "p.(Lys2223Arg)" "" "0000734550" "00001771" "50" "3437" "0" "3437" "0" "c.3437C>T" "r.(?)" "p.(Thr1146Ile)" "" "0000734574" "00001771" "50" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000734582" "00001771" "50" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "" "0000734583" "00001771" "50" "2974" "0" "2974" "0" "c.2974G>A" "r.(?)" "p.(Ala992Thr)" "" "0000735109" "00001771" "50" "266" "0" "266" "0" "c.266A>C" "r.(?)" "p.(Asp89Ala)" "" "0000735119" "00001771" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Asp339Asn)" "" "0000735128" "00001771" "50" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000735152" "00001771" "50" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000735261" "00001771" "50" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Asn336Ser)" "" "0000735277" "00001771" "50" "2974" "0" "2974" "0" "c.2974G>A" "r.(?)" "p.(Ala992Thr)" "" "0000735286" "00001771" "50" "6494" "0" "6494" "0" "c.6494G>A" "r.(?)" "p.(Arg2165His)" "" "0000735486" "00001771" "50" "6166" "0" "6166" "0" "c.6166G>A" "r.(?)" "p.(Ala2056Thr)" "" "0000735490" "00001771" "50" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Asn336Ser)" "" "0000789668" "00001771" "70" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Val411Met)" "13" "0000805615" "00001771" "30" "10445" "0" "10445" "0" "c.*3584G>A" "r.(=)" "p.(=)" "" "0000805616" "00001771" "50" "6232" "0" "6232" "0" "c.6232C>T" "r.(?)" "p.(Arg2078Trp)" "" "0000805617" "00001771" "30" "6004" "11" "6004" "11" "c.6004+11A>G" "r.(=)" "p.(=)" "" "0000805618" "00001771" "30" "5253" "0" "5253" "0" "c.5253C>T" "r.(?)" "p.(Ala1751=)" "" "0000805619" "00001771" "30" "4523" "0" "4523" "0" "c.4523G>A" "r.(?)" "p.(Arg1508His)" "" "0000805620" "00001771" "30" "2561" "6" "2561" "6" "c.2561+6T>C" "r.(=)" "p.(=)" "" "0000805621" "00001771" "30" "2468" "31" "2468" "31" "c.2468+31T>C" "r.(=)" "p.(=)" "" "0000805622" "00001771" "30" "1686" "47" "1686" "47" "c.1686+47G>A" "r.(=)" "p.(=)" "" "0000805623" "00001771" "30" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231Cys)" "" "0000845104" "00001771" "90" "4490" "0" "4490" "0" "c.4490A>G" "r.(?)" "p.(Lys1497Arg)" "" "0000845105" "00001771" "90" "4541" "0" "4541" "0" "c.4541T>C" "r.(?)" "p.(Val1514Ala)" "" "0000845106" "00001771" "90" "6668" "0" "6668" "0" "c.6668A>G" "r.(?)" "p.(Lys2223Arg)" "" "0000853322" "00001771" "30" "4523" "0" "4523" "0" "c.4523G>A" "r.(?)" "p.(Arg1508His)" "" "0000853323" "00001771" "30" "3460" "-10" "3460" "-10" "c.3460-10C>T" "r.(=)" "p.(=)" "" "0000853324" "00001771" "30" "2334" "0" "2334" "0" "c.2334G>A" "r.(?)" "p.(Lys778=)" "" "0000853325" "00001771" "30" "1474" "-68" "1474" "-68" "c.1474-68C>T" "r.(=)" "p.(=)" "" "0000853326" "00001771" "50" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Leu469=)" "" "0000853327" "00001771" "30" "1360" "-6" "1360" "-6" "c.1360-6C>T" "r.(=)" "p.(=)" "" "0000853328" "00001771" "10" "1359" "9" "1359" "9" "c.1359+9G>A" "r.(=)" "p.(=)" "" "0000853329" "00001771" "50" "908" "0" "908" "0" "c.908A>G" "r.(?)" "p.(Gln303Arg)" "" "0000853330" "00001771" "50" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47Trp)" "" "0000862908" "00001771" "50" "11076" "0" "11076" "0" "c.*4215G>C" "r.(=)" "p.(=)" "" "0000862909" "00001771" "30" "10027" "0" "10027" "0" "c.*3166G>A" "r.(=)" "p.(=)" "" "0000862910" "00001771" "50" "6049" "0" "6049" "0" "c.6049C>T" "r.(?)" "p.(Arg2017Cys)" "" "0000862911" "00001771" "50" "3046" "0" "3046" "0" "c.3046G>A" "r.(?)" "p.(Val1016Met)" "" "0000862912" "00001771" "10" "2340" "0" "2340" "0" "c.2340G>A" "r.(?)" "p.(Ser780=)" "" "0000862913" "00001771" "30" "2174" "-8" "2174" "-8" "c.2174-8G>A" "r.(=)" "p.(=)" "" "0000862914" "00001771" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Ala428Thr)" "" "0000862915" "00001771" "50" "1016" "0" "1016" "0" "c.1016A>T" "r.(?)" "p.(Asp339Val)" "" "0000862916" "00001771" "50" "320" "0" "320" "0" "c.320C>A" "r.(?)" "p.(Ala107Glu)" "" "0000881917" "00001771" "90" "711" "0" "713" "0" "c.711_713del" "r.(?)" "p.(Lys237_Ile238delinsAsn)" "" "0000881919" "00001771" "90" "1226" "234" "1226" "234" "c.1226+234G>A" "r.[(1226_1227[ins1226+204_1226+233,234g>a,1226+235_1226+309],1226_1227[ins1226+204_1226+1,234g>a,1226+235_1226+309])]" "p.?" "12i" "0000881920" "00001771" "90" "2593" "0" "2593" "0" "c.2593T>G" "r.(?)" "p.(Trp865Gly)" "" "0000881921" "00001771" "90" "1226" "234" "1226" "234" "c.1226+234G>A" "r.[(1226_1227[ins1226+204_1226+233,234g>a,1226+235_1226+309],1226_1227[ins1226+204_1226+1,234g>a,1226+235_1226+309])]" "p.?" "12i" "0000881922" "00001771" "90" "2091" "0" "2091" "0" "c.2091dup" "r.(?)" "p.(Phe699ValfsTer11)" "" "0000881923" "00001771" "90" "2091" "0" "2091" "0" "c.2091dup" "r.(?)" "p.(Phe699ValfsTer11)" "" "0000881924" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]" "p.[Asn563ValfsTer16,=]" "" "0000881925" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881926" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881927" "00001771" "90" "3264" "0" "3275" "13" "c.3264_3275+13del" "r.spl" "p.?" "26i" "0000881928" "00001771" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1" "0000881929" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881930" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881931" "00001771" "90" "3019" "0" "3019" "0" "c.3019G>C" "r.(?)" "p.(Ala1007Pro)" "" "0000881932" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881933" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881934" "00001771" "90" "2049" "0" "2049" "0" "c.2049C>G" "r.(?)" "p.(Tyr683Ter)" "" "0000881935" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881936" "00001771" "90" "801" "2" "801" "2" "c.801+2T>C" "r.spl" "p.?" "8i" "0000881937" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=]" "p.[Asn563ValfsTer16,=]" "" "0000881938" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881939" "00001771" "90" "62" "1" "62" "1" "c.62+1G>A" "r.spl" "p.?" "1i" "0000881940" "00001771" "90" "5940" "0" "5940" "0" "c.5940G>A" "r.(?)" "p.(Trp1980Ter)" "" "0000881941" "00001771" "90" "4728" "1" "4728" "1" "c.4728+1G>T" "r.spl" "p.?" "36i" "0000881942" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881943" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881944" "00001771" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1" "0000881945" "00001771" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1" "0000881946" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881947" "00001771" "90" "5265" "0" "5265" "0" "c.5265del" "r.(?)" "p.(Ile1756SerfsTer5)" "" "0000881948" "00001771" "90" "5265" "0" "5265" "0" "c.5265del" "r.(?)" "p.(Ile1756SerfsTer5)" "" "0000881949" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000881950" "00001771" "90" "6518" "0" "6519" "0" "c.6518_6519del" "r.(?)" "p.(Ser2173PhefsTer130)" "" "0000881951" "00001771" "90" "1686" "32" "1686" "32" "c.1686+32C>G" "r.[(1686_1687ins[1686+1_1686+31;c>g;1686+33_1686+47],=])" "p.[(Asn563ValfsTer16,=)]" "" "0000890408" "00001771" "30" "9749" "0" "9749" "0" "c.*2888G>A" "r.(=)" "p.(=)" "" "0000890409" "00001771" "30" "9610" "0" "9610" "0" "c.*2749G>T" "r.(=)" "p.(=)" "" "0000890410" "00001771" "30" "6658" "-7" "6658" "-7" "c.6658-7C>A" "r.(=)" "p.(=)" "" "0000890411" "00001771" "10" "6495" "0" "6495" "0" "c.6495C>T" "r.(?)" "p.(Arg2165=)" "" "0000890412" "00001771" "10" "6453" "0" "6453" "0" "c.6453C>T" "r.(?)" "p.(Tyr2151=)" "" "0000890413" "00001771" "10" "6330" "19" "6330" "19" "c.6330+19G>A" "r.(=)" "p.(=)" "" "0000890414" "00001771" "30" "6112" "0" "6112" "0" "c.6112G>A" "r.(?)" "p.(Glu2038Lys)" "" "0000890415" "00001771" "50" "5811" "2" "5811" "2" "c.5811+2T>C" "r.spl?" "p.?" "" "0000890416" "00001771" "50" "5663" "0" "5663" "0" "c.5663A>C" "r.(?)" "p.(Glu1888Ala)" "" "0000890417" "00001771" "10" "5583" "0" "5583" "0" "c.5583A>C" "r.(?)" "p.(Ser1861=)" "" "0000890418" "00001771" "50" "5275" "0" "5275" "0" "c.5275G>A" "r.(?)" "p.(Asp1759Asn)" "" "0000890419" "00001771" "30" "5274" "0" "5274" "0" "c.5274C>T" "r.(?)" "p.(Phe1758=)" "" "0000890420" "00001771" "10" "4450" "0" "4450" "0" "c.4450A>C" "r.(?)" "p.(Ile1484Leu)" "" "0000890421" "00001771" "90" "4420" "0" "4420" "0" "c.4420dup" "r.(?)" "p.(Ala1474Glyfs*71)" "" "0000890422" "00001771" "10" "3379" "-5" "3379" "-5" "c.3379-5T>C" "r.spl?" "p.?" "" "0000890423" "00001771" "30" "3275" "16" "3275" "16" "c.3275+16A>G" "r.(=)" "p.(=)" "" "0000890424" "00001771" "30" "3265" "0" "3275" "15" "c.3265_3275+15dup" "r.spl?" "p.?" "" "0000890425" "00001771" "30" "3138" "0" "3138" "0" "c.3138C>T" "r.(?)" "p.(Tyr1046=)" "" "0000890426" "00001771" "30" "3061" "-4" "3061" "-4" "c.3061-4C>G" "r.spl?" "p.?" "" "0000890427" "00001771" "50" "3025" "0" "3025" "0" "c.3025G>A" "r.(?)" "p.(Val1009Met)" "" "0000890428" "00001771" "10" "2928" "0" "2928" "0" "c.2928C>T" "r.(?)" "p.(Arg976=)" "" "0000890429" "00001771" "30" "2592" "0" "2592" "0" "c.2592A>G" "r.(?)" "p.(Ile864Met)" "" "0000890430" "00001771" "30" "2409" "0" "2409" "0" "c.2409G>A" "r.(?)" "p.(Ser803=)" "" "0000890431" "00001771" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Asp490=)" "" "0000890432" "00001771" "50" "1274" "0" "1274" "0" "c.1274A>G" "r.(?)" "p.(Lys425Arg)" "" "0000890433" "00001771" "50" "1050" "0" "1050" "0" "c.1050C>A" "r.(?)" "p.(His350Gln)" "" "0000890434" "00001771" "90" "890" "0" "890" "0" "c.890C>A" "r.(?)" "p.(Ser297Tyr)" "" "0000890435" "00001771" "30" "861" "0" "861" "0" "c.861T>A" "r.(?)" "p.(Asp287Glu)" "" "0000913795" "00001771" "30" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Leu469=)" "" "0000913796" "00001771" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446Gln)" "" "0000913797" "00001771" "50" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Lys284Glu)" "" "0000925588" "00001771" "30" "3939" "0" "3939" "0" "c.3939G>A" "r.(?)" "p.(Thr1313=)" "" "0000925589" "00001771" "30" "1794" "5" "1794" "5" "c.1794+5C>T" "r.spl?" "p.?" "" "0000925590" "00001771" "50" "1697" "0" "1697" "0" "c.1697C>A" "r.(?)" "p.(Ala566Asp)" "" "0000925591" "00001771" "50" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Thr278Met)" "" "0000925592" "00001771" "30" "204" "12" "204" "12" "c.204+12G>A" "r.(=)" "p.(=)" "" "0000927875" "00001771" "30" "4453" "0" "4453" "0" "c.4453C>T" "r.(?)" "p.(Arg1485Cys)" "35" "0000930048" "00001771" "50" "6004" "11" "6004" "11" "c.6004+11A>G" "r.(=)" "p.(=)" "" "0000930049" "00001771" "30" "5173" "18" "5173" "18" "c.5173+18C>T" "r.(=)" "p.(=)" "" "0000930050" "00001771" "50" "4551" "2" "4551" "3" "c.4551+2_4551+3del" "r.spl?" "p.?" "" "0000930051" "00001771" "50" "4145" "0" "4145" "0" "c.4145G>A" "r.(?)" "p.(Arg1382His)" "" "0000930052" "00001771" "50" "3718" "0" "3718" "0" "c.3718G>A" "r.(?)" "p.(Glu1240Lys)" "" "0000930053" "00001771" "50" "1591" "0" "1591" "0" "c.1591G>A" "r.(?)" "p.(Gly531Arg)" "" "0000930054" "00001771" "30" "1347" "0" "1347" "0" "c.1347G>A" "r.(?)" "p.(Thr449=)" "" "0000931791" "00001771" "50" "5770" "0" "5770" "0" "c.5770G>A" "r.(?)" "p.(Gly1924Arg)" "" "0000933314" "00001771" "50" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37Trp)" "" "0000949893" "00001771" "30" "12107" "0" "12107" "0" "c.*5246G>A" "r.(=)" "p.(=)" "" "0000949894" "00001771" "50" "6532" "-11" "6532" "-11" "c.6532-11G>C" "r.(=)" "p.(=)" "" "0000949895" "00001771" "50" "6262" "0" "6262" "0" "c.6262C>T" "r.(?)" "p.(Pro2088Ser)" "" "0000949896" "00001771" "30" "5659" "0" "5659" "0" "c.5659G>A" "r.(?)" "p.(Val1887Met)" "" "0000949897" "00001771" "30" "5173" "17" "5173" "17" "c.5173+17A>G" "r.(=)" "p.(=)" "" "0000949898" "00001771" "30" "4952" "17" "4952" "19" "c.4952+17_4952+19dup" "r.(=)" "p.(=)" "" "0000949899" "00001771" "50" "4523" "0" "4523" "0" "c.4523G>A" "r.(?)" "p.(Arg1508His)" "" "0000949900" "00001771" "50" "4169" "0" "4169" "0" "c.4169G>A" "r.(?)" "p.(Arg1390His)" "" "0000949901" "00001771" "50" "3275" "12" "3275" "37" "c.3275+12_3275+37dup" "r.(=)" "p.(=)" "" "0000949902" "00001771" "50" "3184" "0" "3184" "0" "c.3184G>A" "r.(?)" "p.(Glu1062Lys)" "" "0000949903" "00001771" "10" "2550" "0" "2550" "0" "c.2550C>T" "r.(?)" "p.(Ile850=)" "" "0000949904" "00001771" "50" "2469" "-15" "2469" "-15" "c.2469-15G>A" "r.(=)" "p.(=)" "" "0000949905" "00001771" "50" "2468" "19" "2468" "19" "c.2468+19G>A" "r.(=)" "p.(=)" "" "0000949906" "00001771" "30" "2026" "13" "2026" "13" "c.2026+13C>T" "r.(=)" "p.(=)" "" "0000949907" "00001771" "30" "1738" "0" "1738" "0" "c.1738C>A" "r.(?)" "p.(His580Asn)" "" "0000949908" "00001771" "30" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Asp555Asn)" "" "0000949909" "00001771" "50" "1473" "17" "1473" "17" "c.1473+17C>T" "r.(=)" "p.(=)" "" "0000949910" "00001771" "50" "331" "-13" "331" "-13" "c.331-13T>G" "r.(=)" "p.(=)" "" "0000949911" "00001771" "10" "62" "15" "62" "15" "c.62+15C>T" "r.(=)" "p.(=)" "" "0000966813" "00001771" "30" "11279" "0" "11279" "0" "c.*4418dup" "r.(?)" "p.(=)" "" "0000966814" "00001771" "50" "5812" "-1" "5812" "-1" "c.5812-1G>A" "r.spl?" "p.?" "" "0000966815" "00001771" "30" "4269" "0" "4269" "0" "c.4269C>T" "r.(?)" "p.(=)" "" "0000966816" "00001771" "50" "3623" "0" "3623" "0" "c.3623G>A" "r.(?)" "p.(Ser1208Asn)" "" "0000966817" "00001771" "50" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(His708Tyr)" "" "0000966818" "00001771" "50" "1315" "0" "1315" "0" "c.1315C>G" "r.(?)" "p.(Leu439Val)" "" "0000966819" "00001771" "50" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Val437Met)" "" "0000966820" "00001771" "30" "1226" "46" "1226" "46" "c.1226+46G>A" "r.(=)" "p.(=)" "" "0000966821" "00001771" "50" "909" "3" "909" "3" "c.909+3G>C" "r.spl?" "p.?" "" "0000966822" "00001771" "50" "721" "-9" "721" "-8" "c.721-9_721-8del" "r.(=)" "p.(=)" "" "0000966823" "00001771" "50" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Ile153Val)" "" "0000980140" "00001771" "30" "12082" "0" "12082" "0" "c.*5221C>T" "r.(=)" "p.(=)" "" "0000980141" "00001771" "10" "6817" "0" "6817" "0" "c.6817A>T" "r.(?)" "p.(Thr2273Ser)" "" "0000980142" "00001771" "50" "6730" "0" "6730" "0" "c.6730C>T" "r.(?)" "p.(Leu2244Phe)" "" "0000980143" "00001771" "50" "6262" "0" "6262" "0" "c.6262C>T" "r.(?)" "p.(Pro2088Ser)" "" "0000980144" "00001771" "30" "4552" "-10" "4552" "-10" "c.4552-10G>T" "r.(=)" "p.(=)" "" "0000980145" "00001771" "50" "4500" "0" "4500" "0" "c.4500C>T" "r.(?)" "p.(Phe1500=)" "" "0000980146" "00001771" "50" "4307" "0" "4307" "0" "c.4307G>A" "r.(?)" "p.(Arg1436Gln)" "" "0000980147" "00001771" "50" "3851" "0" "3851" "0" "c.3851G>A" "r.(?)" "p.(Arg1284Gln)" "" "0000980148" "00001771" "50" "3194" "0" "3194" "0" "c.3194G>A" "r.(?)" "p.(Gly1065Glu)" "" "0000980149" "00001771" "50" "3175" "0" "3175" "0" "c.3175C>T" "r.(?)" "p.(Arg1059Cys)" "" "0000980150" "00001771" "30" "3054" "0" "3054" "0" "c.3054C>T" "r.(?)" "p.(=)" "" "0000980151" "00001771" "50" "2676" "0" "2676" "0" "c.2676C>T" "r.(?)" "p.(=)" "" "0000980152" "00001771" "10" "2320" "-13" "2320" "-13" "c.2320-13A>G" "r.(=)" "p.(=)" "" "0000980153" "00001771" "50" "1915" "0" "1915" "0" "c.1915C>T" "r.(?)" "p.(Arg639Cys)" "" "0000980154" "00001771" "30" "1687" "-22" "1687" "-22" "c.1687-22C>T" "r.(=)" "p.(=)" "" "0000980155" "00001771" "50" "1676" "0" "1676" "0" "c.1676G>A" "r.(?)" "p.(Arg559Gln)" "" "0000980156" "00001771" "30" "1583" "0" "1583" "0" "c.1583C>T" "r.(?)" "p.(Thr528Met)" "" "0000980157" "00001771" "10" "1359" "18" "1359" "18" "c.1359+18C>T" "r.(=)" "p.(=)" "" "0000980158" "00001771" "50" "493" "0" "493" "0" "c.493A>C" "r.(?)" "p.(Lys165Gln)" "" "0000980159" "00001771" "50" "407" "0" "407" "0" "c.407A>T" "r.(?)" "p.(Lys136Ile)" "" "0000999835" "00001771" "30" "12737" "0" "12737" "0" "c.*5876G>A" "r.(=)" "p.(=)" "" "0000999836" "00001771" "10" "5334" "0" "5334" "0" "c.5334C>T" "r.(?)" "p.(Ala1778=)" "" "0000999837" "00001771" "30" "4523" "0" "4523" "0" "c.4523G>A" "r.(?)" "p.(Arg1508His)" "" "0000999838" "00001771" "30" "3275" "10" "3275" "10" "c.3275+10C>A" "r.(=)" "p.(=)" "" "0000999839" "00001771" "50" "3230" "0" "3230" "0" "c.3230G>A" "r.(?)" "p.(Arg1077His)" "" "0000999840" "00001771" "30" "2865" "-5" "2865" "-4" "c.2865-5_2865-4del" "r.spl?" "p.?" "" "0000999841" "00001771" "30" "2384" "0" "2384" "0" "c.2384A>G" "r.(?)" "p.(Lys795Arg)" "" "0000999842" "00001771" "50" "2246" "0" "2246" "0" "c.2246G>A" "r.(?)" "p.(Arg749Gln)" "" "0000999843" "00001771" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Asp490=)" "" "0000999844" "00001771" "10" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Pro441=)" "" "0000999845" "00001771" "90" "857" "0" "857" "0" "c.857C>G" "r.(?)" "p.(Pro286Arg)" "" "0000999846" "00001771" "50" "720" "16" "720" "16" "c.720+16T>C" "r.(=)" "p.(=)" "" "0000999847" "00001771" "50" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231Cys)" "" "0001014940" "00001771" "50" "2026" "9" "2026" "9" "c.2026+9C>T" "r.(=)" "p.(=)" "" "0001014941" "00001771" "90" "1270" "0" "1270" "0" "c.1270C>G" "r.(?)" "p.(Leu424Val)" "" "0001016696" "00001771" "90" "1360" "-36" "1360" "-1" "c.1360-36_1360-1del" "r.spl" "p.?" "" "0001022589" "00001771" "30" "4543" "0" "4543" "0" "c.4543C>T" "r.(?)" "p.(Leu1515=)" "" "0001026128" "00001771" "30" "6453" "0" "6453" "0" "c.6453C>T" "r.(?)" "p.(Tyr2151=)" "" "0001026129" "00001771" "50" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Cys)" "" "0001026130" "00001771" "50" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Cys)" "" "0001026131" "00001771" "50" "6232" "0" "6232" "0" "c.6232C>T" "r.(?)" "p.(Arg2078Trp)" "" "0001026132" "00001771" "50" "6112" "0" "6112" "0" "c.6112G>A" "r.(?)" "p.(Glu2038Lys)" "" "0001026133" "00001771" "70" "5725" "0" "5725" "0" "c.5725C>T" "r.(?)" "p.(Arg1909*)" "" "0001026134" "00001771" "30" "5174" "-14" "5174" "-14" "c.5174-14G>A" "r.(=)" "p.(=)" "" "0001026135" "00001771" "30" "4057" "0" "4057" "0" "c.4057A>G" "r.(?)" "p.(Ser1353Gly)" "" "0001026136" "00001771" "30" "3881" "0" "3881" "0" "c.3881G>A" "r.(?)" "p.(Arg1294His)" "" "0001026137" "00001771" "30" "2865" "-3" "2865" "-3" "c.2865-3C>A" "r.spl?" "p.?" "" "0001026138" "00001771" "30" "2090" "0" "2090" "0" "c.2090C>G" "r.(?)" "p.(Pro697Arg)" "" "0001026139" "00001771" "30" "1347" "0" "1347" "0" "c.1347G>A" "r.(?)" "p.(Thr449=)" "" "0001026140" "00001771" "30" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "" "0001029898" "00001771" "50" "1359" "6" "1359" "6" "c.1359+6T>C" "r.(?)" "p.(?)" "" "0001039084" "00001771" "30" "6453" "0" "6453" "0" "c.6453C>T" "r.(?)" "p.(Tyr2151=)" "" "0001039085" "00001771" "50" "6330" "18" "6330" "18" "c.6330+18C>T" "r.(=)" "p.(=)" "" "0001039086" "00001771" "50" "6088" "0" "6088" "0" "c.6088del" "r.(?)" "p.(Ala2030Profs*18)" "" "0001039087" "00001771" "50" "5678" "4" "5678" "4" "c.5678+4C>T" "r.spl?" "p.?" "" "0001039088" "00001771" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Ala1885Thr)" "" "0001039089" "00001771" "50" "5480" "0" "5480" "0" "c.5480C>T" "r.(?)" "p.(Ser1827Leu)" "" "0001039090" "00001771" "50" "5438" "0" "5438" "0" "c.5438A>T" "r.(?)" "p.(Tyr1813Phe)" "" "0001039091" "00001771" "30" "5379" "-28" "5379" "-28" "c.5379-28C>T" "r.(=)" "p.(=)" "" "0001039092" "00001771" "30" "5173" "17" "5173" "17" "c.5173+17A>G" "r.(=)" "p.(=)" "" "0001039093" "00001771" "30" "4259" "0" "4259" "0" "c.4259C>T" "r.(?)" "p.(Ala1420Val)" "" "0001039094" "00001771" "30" "4055" "0" "4055" "0" "c.4055G>C" "r.(?)" "p.(Gly1352Ala)" "" "0001039095" "00001771" "50" "3970" "0" "3970" "0" "c.3970C>T" "r.(?)" "p.(Arg1324Cys)" "" "0001039096" "00001771" "50" "3857" "0" "3857" "0" "c.3857G>A" "r.(?)" "p.(Arg1286His)" "" "0001039097" "00001771" "50" "3260" "0" "3260" "0" "c.3260C>T" "r.(?)" "p.(Ser1087Phe)" "" "0001039098" "00001771" "10" "2550" "0" "2550" "0" "c.2550C>T" "r.(?)" "p.(Ile850=)" "" "0001039099" "00001771" "50" "2171" "0" "2171" "0" "c.2171C>T" "r.(?)" "p.(Ala724Val)" "" "0001039100" "00001771" "50" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Met506Val)" "" "0001039101" "00001771" "50" "1385" "0" "1385" "0" "c.1385A>G" "r.(?)" "p.(Asp462Gly)" "" "0001039102" "00001771" "50" "1106" "3" "1106" "3" "c.1106+3G>C" "r.spl?" "p.?" "" "0001039103" "00001771" "50" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Gly302Asp)" "" "0001039104" "00001771" "50" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Arg260Gln)" "" "0001039105" "00001771" "30" "609" "0" "609" "0" "c.609T>G" "r.(?)" "p.(Asp203Glu)" "" "0001039106" "00001771" "30" "16" "0" "16" "0" "c.16G>C" "r.(?)" "p.(Gly6Arg)" "" "0001039107" "00001771" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "" "0001039108" "00001771" "50" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.?" "" "0001039109" "00001771" "50" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.?" "" "0001045451" "00001771" "30" "2090" "0" "2090" "0" "c.2090C>G" "r.(?)" "p.(Pro697Arg)" "" "0001045471" "00001771" "50" "5659" "0" "5659" "0" "c.5659G>A" "r.(?)" "p.(Val1887Met)" "" "0001046362" "00001771" "30" "6330" "19" "6330" "19" "c.6330+19G>A" "r.(=)" "p.(=)" "" "0001046363" "00001771" "10" "5583" "0" "5583" "0" "c.5583A>C" "r.(?)" "p.(Ser1861=)" "" "0001046364" "00001771" "50" "5339" "0" "5339" "0" "c.5339C>G" "r.(?)" "p.(Ala1780Gly)" "" "0001046365" "00001771" "30" "4523" "0" "4523" "0" "c.4523G>A" "r.(?)" "p.(Arg1508His)" "" "0001046366" "00001771" "50" "3878" "0" "3880" "0" "c.3878_3880dup" "r.(?)" "p.(Gln1293dup)" "" "0001046367" "00001771" "10" "3265" "0" "3275" "15" "c.3265_3275+15dup" "r.spl?" "p.?" "" "0001046368" "00001771" "30" "2510" "0" "2510" "0" "c.2510T>C" "r.(?)" "p.(Phe837Ser)" "" "0001046369" "00001771" "10" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Asn336Ser)" "" "0001046370" "00001771" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Tyr187=)" "" "0001048644" "00001771" "50" "2680" "0" "2680" "0" "c.2680G>T" "r.(?)" "p.(Gly894Cys)" "" "0001049023" "00001771" "50" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Pro135Ser)" "" "0001049078" "00001771" "50" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Pro135Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 102 "{{screeningid}}" "{{variantid}}" "0000000370" "0000016959" "0000000377" "0000016964" "0000016547" "0000036406" "0000019800" "0000040248" "0000019808" "0000040256" "0000019818" "0000040263" "0000019819" "0000040264" "0000020260" "0000041000" "0000020261" "0000041001" "0000020262" "0000041002" "0000020438" "0000041309" "0000020440" "0000041311" "0000020441" "0000041312" "0000022284" "0000044476" "0000022285" "0000044477" "0000022287" "0000044479" "0000048157" "0000076979" "0000165868" "0000369642" "0000184045" "0000408013" "0000229239" "0000470390" "0000266542" "0000597241" "0000266544" "0000597243" "0000270753" "0000604578" "0000291807" "0000648496" "0000291808" "0000648497" "0000291809" "0000648498" "0000291810" "0000648499" "0000291811" "0000648500" "0000291812" "0000648501" "0000291813" "0000648502" "0000296302" "0000652991" "0000296836" "0000653557" "0000297149" "0000659774" "0000302500" "0000665789" "0000305466" "0000669154" "0000311757" "0000687262" "0000335510" "0000733921" "0000335523" "0000733968" "0000335538" "0000734021" "0000335576" "0000734141" "0000335582" "0000734163" "0000335582" "0000734164" "0000335596" "0000734208" "0000335602" "0000734235" "0000335706" "0000734427" "0000335721" "0000734488" "0000335728" "0000734512" "0000335742" "0000734550" "0000335753" "0000734574" "0000335754" "0000734582" "0000335754" "0000734583" "0000336094" "0000735109" "0000336098" "0000735119" "0000336101" "0000735128" "0000336108" "0000735152" "0000336156" "0000735261" "0000336161" "0000735277" "0000336163" "0000735286" "0000336258" "0000735486" "0000336259" "0000735490" "0000377352" "0000789668" "0000408227" "0000845104" "0000408228" "0000845105" "0000408229" "0000845106" "0000421262" "0000881917" "0000421262" "0000881919" "0000421263" "0000881920" "0000421263" "0000881921" "0000421264" "0000881922" "0000421264" "0000881937" "0000421265" "0000881923" "0000421265" "0000881938" "0000421266" "0000881924" "0000421266" "0000881939" "0000421267" "0000881925" "0000421267" "0000881940" "0000421268" "0000881926" "0000421268" "0000881941" "0000421269" "0000881927" "0000421269" "0000881942" "0000421270" "0000881928" "0000421270" "0000881943" "0000421271" "0000881929" "0000421271" "0000881944" "0000421272" "0000881930" "0000421272" "0000881945" "0000421273" "0000881931" "0000421273" "0000881946" "0000421274" "0000881932" "0000421274" "0000881947" "0000421275" "0000881933" "0000421275" "0000881948" "0000421276" "0000881934" "0000421276" "0000881949" "0000421277" "0000881935" "0000421277" "0000881950" "0000421278" "0000881936" "0000421278" "0000881951" "0000436739" "0000927875" "0000436975" "0000931791" "0000437879" "0000933314" "0000458999" "0001016696"