### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POLD1) # 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}}" "POLD1" "polymerase (DNA directed), delta 1, catalytic subunit" "19" "q13.3" "unknown" "LRG_785" "UD_135462314393" "" "https://www.LOVD.nl/POLD1" "" "1" "9175" "5424" "174761" "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/POLD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-12-06 00:00:00" "00006" "2018-10-26 14:33:33" "00000" "2025-07-08 13:22:38" ## 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}}" "00001772" "POLD1" "transcript variant 1" "001" "NM_001256849.1" "" "NP_001243778.1" "" "" "" "-72" "3395" "3324" "50887580" "50921275" "00001" "2012-12-06 11:07:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00102" "cancer, predisposition" "cancer, predisposition" "" "" "" "" "" "00006" "2013-01-03 10:21:59" "00006" "2019-02-14 14:52:20" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00314" "polyposis" "polyposis" "" "" "" "" "" "00006" "2014-01-27 14:59:09" "" "" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00424" "cancer, ovarian" "cancer, ovarian" "" "167000" "" "" "" "00006" "2014-06-18 09:01:54" "" "" "03161" "CRCS10" "cancer, colorectal, susceptibility to, type 10 (CRCS-10)" "AD" "612591" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03919" "MDPL" "hypoplasia, mandibular, deafness, progeroid features, and lipodystrophy syndrome (MDPL)" "AD" "615381" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "POLD1" "03161" "POLD1" "03919" ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00000357" "" "" "" "1" "" "00047" "{PMID:Palles 2013:23263490}" "" "" "" "United Kingdom (Great Britain)" "" "" "" "" "Northern European" "" "00000358" "" "" "" "1" "" "00047" "{PMID:Palles 2013:23263490}" "" "" "no" "United Kingdom (Great Britain)" "" "" "" "" "Northern European" "" "00000359" "" "" "" "1" "" "00047" "{PMID:Palles 2013:23263490}" "" "" "no" "United Kingdom (Great Britain)" "" "" "" "" "Northern European" "" "00038583" "" "" "" "1" "" "01296" "" "" "" "" "" "" "0" "" "" "" "" "00048021" "" "" "" "1" "" "01383" "{PMID:Jansen 2015:26648449}, {DOI:Jansen 2015:10.1038/ejhg.2015.252}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00183540" "" "" "" "1" "" "02751" "{PMID:Spier 2015:25529843}" "1 family" "" "" "" "" "0" "" "" "" "25529843-Fam" "00246131" "" "" "" "1" "" "03358" "" "5 benign juvenile polyps aged 7" "F" "no" "United Kingdom (Great Britain)" ">18y" "0" "" "" "white" "" "00263893" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263897" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00264043" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00265860" "" "" "" "2" "" "01779" "" "" "F" "no" "Korea, South (Republic)" "22y" "0" "" "" "Asian" "SB127" "00292187" "" "" "" "55" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292188" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292189" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304676" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00371670" "" "" "" "2" "" "02491" "" "" "" "" "" "" "0" "" "" "Spanish" "1.1" "00371672" "" "" "00371670" "1" "" "02491" "" "" "F" "" "Spain" "" "0" "" "" "Spanish" "1.2" "00371676" "" "" "" "2" "" "02491" "" "" "F" "" "Spain" "" "0" "" "" "" "2.1" "00371677" "" "" "00371676" "1" "" "02491" "" "" "F" "" "Spain" "" "0" "" "" "" "2.2" "00371679" "" "" "" "1" "" "02491" "" "" "F" "" "Spain" "" "" "" "" "" "3.1" "00371681" "" "" "" "2" "" "02491" "" "" "F" "" "Spain" "" "0" "" "" "" "4.1" "00371682" "" "" "00371681" "1" "" "02491" "" "" "F" "" "Spain" "" "0" "" "" "" "4.2" "00371683" "" "" "" "1" "" "02491" "" "" "M" "" "Spain" "" "" "" "" "" "5.1" "00371684" "" "" "" "1" "" "02491" "" "" "?" "" "Spain" "" "" "" "" "" "6.1" "00371685" "" "" "" "1" "" "02491" "" "" "F" "" "Spain" "" "" "" "" "" "7.1" "00371686" "" "" "" "1" "" "02491" "" "" "F" "" "Spain" "" "" "" "" "" "8.1" "00371687" "" "" "" "1" "" "02491" "" "" "" "" "Spain" "" "" "" "" "" "9.1" "00371688" "" "" "" "1" "" "02491" "" "" "F" "" "Spain" "" "" "" "" "" "10.1" "00371689" "" "" "" "1" "" "02491" "" "" "" "" "Spain" "" "" "" "" "" "11.1" "00371690" "" "" "" "1" "" "02491" "" "" "F" "" "Spain" "" "" "" "" "" "12.1" "00371691" "" "" "" "1" "" "02491" "" "" "" "" "" "" "" "" "" "" "13.1" "00371692" "" "" "" "1" "" "02491" "" "" "F" "" "Spain" "" "" "" "" "" "14.1" "00371693" "" "" "" "1" "" "02491" "" "" "F" "" "Spain" "" "" "" "" "" "15.1" "00371694" "" "" "" "1" "" "02491" "" "" "F" "" "Spain" "" "" "" "" "" "16.1" "00376130" "" "" "" "1" "" "04096" "" "" "" "" "" "" "" "" "" "" "" "00406978" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00406979" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00406980" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00434148" "" "" "" "1" "" "02765" "" "" "M" "no" "New Zealand" "" "" "" "" "European" "" "00436480" "" "" "" "1" "" "03628" "" "" "M" "no" "Hungary" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00000357" "00091" "00000358" "00091" "00000359" "00091" "00038583" "03919" "00048021" "00091" "00183540" "00198" "00246131" "03161" "00265860" "05103" "00292187" "00198" "00292188" "00198" "00292189" "00198" "00304676" "00198" "00371670" "00318" "00371672" "00102" "00371676" "05489" "00371677" "05489" "00371679" "00318" "00371681" "05489" "00371682" "00424" "00371683" "05489" "00371684" "05489" "00371685" "00318" "00371686" "00424" "00371687" "05489" "00371688" "00424" "00371689" "05489" "00371690" "00318" "00371691" "05489" "00371692" "00318" "00371693" "05093" "00371694" "00318" "00376130" "05093" "00406978" "05489" "00406979" "05489" "00406980" "05489" "00434148" "00314" "00436480" "05093" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00102, 00198, 00314, 00318, 00424, 03161, 03919, 05093, 05103, 05489 ## Count = 32 "{{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}}" "0000000046" "00091" "00000357" "00047" "Familial, autosomal dominant" "" "Multiple colorectal adenomas\r\nColorectal carcinoma\r\nEndometrial carcinoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000048" "00091" "00000358" "00047" "Familial, autosomal dominant" "" "Multiple colorectal adenomas\r\nColorectal carcinoma\r\nEndometrial carcinoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000049" "00091" "00000359" "00047" "Unknown" "" "Multiple colorectal adenomas" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029127" "03919" "00038583" "01296" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144244" "00198" "00183540" "02751" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188528" "03161" "00246131" "03358" "Unknown" "07y" "HP:0012098; 7y-5 benign juvenile polyps" "07y" "07y" "7y" "" "" "" "" "" "" "" "" "" "juvenile polposis" "Juvenile polyposis" "Sufficient no. of juvenile polyps to make the diagnosis." "0000201805" "00198" "00263897" "01164" "Unknown" "" "Adenomatous colonic polyposis (HP:0005227); Adrenocortical carcinoma (HP:0006744)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201897" "00198" "00264043" "01164" "Unknown" "" "Neoplasm of the gastrointestinal tract (HP:0007378)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000203645" "05103" "00265860" "01779" "Familial, autosomal recessive" "" "moderate sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267006" "00318" "00371670" "02491" "Familial" "" "Breast ca at 46" "" "" "" "" "" "" "" "" "" "" "" "" "" "Breast ca" "" "0000267009" "00102" "00371672" "02491" "Unknown" "" "breast ca 65 and 75" "" "" "" "" "" "" "" "" "" "" "" "" "" "Endometrial ca 57" "" "0000267012" "05489" "00371676" "02491" "Familial" "" "" "" "70y" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000267013" "05489" "00371677" "02491" "Familial" "" "" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000267015" "00318" "00371679" "02491" "Familial" "" "Breast ca at 55y and Ovarian ca. at 44y" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "Breast ca." "" "0000267016" "05489" "00371681" "02491" "Familial" "" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000267017" "00424" "00371682" "02491" "Familial" "" "Ovarian ca." "" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267018" "05489" "00371683" "02491" "Familial" "" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000267019" "05489" "00371684" "02491" "Unknown" "" "43 polyps" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000267021" "00318" "00371685" "02491" "Familial" "" "Breast ca." "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267022" "00424" "00371686" "02491" "Unknown" "" "Ovarian ca." "" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267023" "05489" "00371687" "02491" "Unknown" "" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000267024" "00424" "00371688" "02491" "Unknown" "" "Ovarian ca." "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267025" "05489" "00371689" "02491" "Familial" "" "+ tubular colorectal adenoma with low-grade" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000267026" "00318" "00371690" "02491" "Familial" "" "Breast ca." "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267027" "05489" "00371691" "02491" "Unknown" "" "" "" "70y" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000267028" "00318" "00371692" "02491" "Familial" "" "Breast ca." "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267029" "05093" "00371693" "02491" "Familial" "" "Leimyosarcoma" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267030" "05093" "00371693" "02491" "Unknown" "" "Renal. ca" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267031" "05093" "00371693" "02491" "Familial" "" "breast ca." "" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000267032" "00318" "00371694" "02491" "Familial" "" "Breast ca." "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324502" "00314" "00434148" "02765" "Unknown" "85" "Synchronous splenic flexure and descending colon tumours, plus at least 20 adenomas at age 84" "" "" "" "pMMR / LOE MLH1/PMS2, BRAF +ve" "" "normal" "" "" "" "" "" "neoplasm" "" "" "" "0000326658" "05093" "00436480" "03628" "Unknown" "" "adrenocortical cancer" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000372" "00000357" "1" "00047" "00047" "2013-01-15 16:01:04" "" "" "?" "DNA" "" "" "0000000373" "00000358" "1" "00047" "00047" "2013-01-15 16:41:53" "" "" "?" "DNA" "" "" "0000000374" "00000359" "1" "00047" "00047" "2013-01-15 16:47:19" "00047" "2013-01-15 17:00:49" "?" "DNA" "" "" "0000038815" "00038583" "1" "01296" "01296" "2015-05-17 15:50:52" "" "" "SEQ" "DNA" "" "" "0000048147" "00048021" "1" "01383" "01383" "2015-09-02 11:06:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000184508" "00183540" "1" "02751" "00770" "2017-06-07 07:55:52" "00770" "2017-06-07 08:07:19" "SEQ" "DNA" "" "" "0000247243" "00246131" "1" "03358" "03358" "2019-07-12 12:34:51" "" "" "SEQ-NG" "DNA" "Blood" "" "0000265004" "00263893" "1" "01164" "01164" "2019-08-30 19:55:19" "" "" "SEQ-NG-S" "DNA" "" "" "0000265008" "00263897" "1" "01164" "01164" "2019-08-30 19:55:23" "" "" "SEQ-NG-S" "DNA" "" "" "0000265165" "00264043" "1" "01164" "01164" "2019-09-06 17:29:22" "" "" "SEQ-NG-S" "DNA" "" "" "0000266983" "00265860" "1" "01779" "01779" "2019-10-08 14:10:13" "" "" "SEQ-NG-I" "DNA" "whole blood" "" "0000293355" "00292187" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293356" "00292188" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293357" "00292189" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305805" "00304676" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000372898" "00371670" "1" "02491" "02491" "2021-05-04 11:21:06" "" "" "SEQ" "DNA" "blood" "" "0000372901" "00371672" "1" "02491" "02491" "2021-05-04 12:05:07" "" "" "SEQ" "DNA" "blood" "" "0000372904" "00371676" "1" "02491" "02491" "2021-05-04 12:51:00" "" "" "SEQ" "DNA" "blood" "" "0000372905" "00371677" "1" "02491" "02491" "2021-05-04 12:57:22" "" "" "SEQ" "DNA" "blood" "" "0000372907" "00371679" "1" "02491" "02491" "2021-05-04 15:19:39" "" "" "SEQ" "DNA" "blood" "" "0000372908" "00371681" "1" "02491" "02491" "2021-05-04 15:28:24" "" "" "SEQ" "DNA" "blood" "" "0000372909" "00371682" "1" "02491" "02491" "2021-05-04 15:31:40" "" "" "SEQ" "DNA" "blood" "" "0000372910" "00371683" "1" "02491" "02491" "2021-05-04 15:35:29" "" "" "SEQ" "DNA" "blood" "" "0000372911" "00371684" "1" "02491" "02491" "2021-05-04 15:40:16" "" "" "SEQ" "DNA" "blood" "" "0000372913" "00371685" "1" "02491" "02491" "2021-05-04 15:49:57" "" "" "SEQ" "DNA" "blood" "" "0000372914" "00371686" "1" "02491" "02491" "2021-05-04 15:55:49" "" "" "SEQ" "DNA" "blood" "" "0000372915" "00371687" "1" "02491" "02491" "2021-05-04 16:03:23" "" "" "SEQ" "DNA" "blood" "" "0000372916" "00371688" "1" "02491" "02491" "2021-05-04 16:06:00" "" "" "SEQ" "DNA" "blood" "" "0000372917" "00371689" "1" "02491" "02491" "2021-05-04 16:10:25" "" "" "SEQ" "DNA" "blood" "" "0000372918" "00371690" "1" "02491" "02491" "2021-05-04 16:22:10" "" "" "SEQ" "DNA" "blood" "" "0000372919" "00371691" "1" "02491" "02491" "2021-05-04 16:26:45" "" "" "SEQ" "DNA" "blood" "" "0000372920" "00371692" "1" "02491" "02491" "2021-05-04 16:33:24" "" "" "SEQ" "DNA" "blood" "" "0000372921" "00371693" "1" "02491" "02491" "2021-05-04 16:41:07" "" "" "SEQ" "DNA" "blood" "" "0000372922" "00371694" "1" "02491" "02491" "2021-05-04 16:45:30" "" "" "SEQ" "DNA" "blood" "" "0000377326" "00376130" "1" "04096" "04096" "2021-06-16 09:48:52" "" "" "SEQ-NG" "DNA" "" "" "0000408224" "00406978" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408225" "00406979" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408226" "00406980" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000435615" "00434148" "1" "02765" "02765" "2023-03-20 23:46:03" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000437964" "00436480" "1" "03628" "03628" "2023-09-17 21:11:55" "" "" "SEQ;SEQ-NG-I" "DNA" "PBMC" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000000372" "POLD1" "0000000372" "POLE" "0000000373" "POLD1" "0000000373" "POLE" "0000000374" "POLD1" "0000000374" "POLE" "0000038815" "POLD1" "0000048147" "POLE" "0000184508" "POLD1" "0000247243" "POLD1" "0000266983" "POLD1" "0000372898" "POLD1" "0000372901" "POLD1" "0000372904" "POLD1" "0000372905" "POLD1" "0000372907" "BRCA2" "0000372907" "POLD1" "0000372908" "POLD1" "0000372909" "POLD1" "0000372910" "POLD1" "0000372911" "POLD1" "0000372913" "POLD1" "0000372914" "POLD1" "0000372915" "POLD1" "0000372916" "POLD1" "0000372917" "POLD1" "0000372918" "POLD1" "0000372919" "POLD1" "0000372920" "POLD1" "0000372921" "POLD1" "0000372922" "POLD1" "0000377326" "POLD1" "0000435615" "APC" "0000435615" "BMPR1A" "0000435615" "MUTYH" "0000435615" "NTHL1" "0000435615" "POLD1" "0000435615" "POLE" "0000435615" "SMAD4" "0000437964" "FANCA" "0000437964" "NSD1" "0000437964" "POLD1" ## 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 = 383 "{{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}}" "0000016961" "0" "55" "19" "50909713" "50909713" "subst" "0" "00047" "POLD1_000001" "g.50909713G>A" "" "{PMID:Palles et al. 2013:23263490}" "" "" "" "Germline" "" "" "" "" "" "g.50406456G>A" "" "VUS" "" "0000016962" "0" "55" "19" "50909713" "50909713" "subst" "0" "00047" "POLD1_000001" "g.50909713G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50406456G>A" "" "VUS" "" "0000016963" "0" "55" "19" "50906319" "50906319" "subst" "0" "00047" "POLD1_000002" "g.50906319C>T" "" "" "" "c.981C>G" "" "Germline" "" "" "" "" "" "g.50403062C>T" "" "VUS" "" "0000066573" "0" "70" "19" "50910264" "50910264" "subst" "0" "01296" "POLD1_000003" "g.50910264C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.50407007C>T" "" "likely pathogenic" "" "0000066574" "0" "70" "19" "50912078" "50912080" "del" "0" "01296" "POLD1_000004" "g.50912078_50912080del" "" "" "" "1812_1814delCTC" "" "De novo" "yes" "" "0" "" "" "g.50408821_50408823del" "" "likely pathogenic" "" "0000076968" "0" "50" "19" "50905989" "50905989" "subst" "0.000354227" "01383" "POLD1_000005" "g.50905989G>A" "" "{PMID:Jansen 2015:26648449}, {DOI:Jansen 2015:10.1038/ejhg.2015.252}" "" "" "" "Germline" "" "rs41554817" "0" "" "" "g.50402732G>A" "" "VUS" "" "0000247557" "0" "10" "19" "50902188" "50902188" "subst" "0.00195191" "02330" "POLD1_000008" "g.50902188A>T" "" "" "" "POLD1(NM_001256849.1):c.80A>T (p.D27V, p.(Asp27Val)), POLD1(NM_002691.4):c.80A>T (p.D27V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50398931A>T" "" "benign" "" "0000247569" "0" "30" "19" "50906742" "50906742" "subst" "0.000585942" "02330" "POLD1_000032" "g.50906742A>G" "" "" "" "POLD1(NM_001256849.1):c.1138-8A>G, POLD1(NM_001308632.1):c.1138-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403485A>G" "" "likely benign" "" "0000247609" "0" "10" "19" "50918969" "50918969" "subst" "0.171145" "02330" "POLD1_000063" "g.50918969A>G" "" "" "" "POLD1(NM_001256849.1):c.2718-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50415712A>G" "" "benign" "" "0000247610" "0" "10" "19" "50920536" "50920536" "subst" "0.0348129" "02330" "POLD1_000082" "g.50920536A>G" "" "" "" "POLD1(NM_001256849.1):c.3218+10A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50417279A>G" "" "benign" "" "0000247615" "0" "30" "19" "50902648" "50902648" "subst" "4.06319E-6" "02330" "POLD1_000011" "g.50902648A>G" "" "" "" "POLD1(NM_001256849.1):c.223A>G (p.I75V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50399391A>G" "" "likely benign" "" "0000248341" "0" "30" "19" "50902188" "50902188" "subst" "0.00195191" "02325" "POLD1_000008" "g.50902188A>T" "" "" "" "POLD1(NM_001256849.1):c.80A>T (p.D27V, p.(Asp27Val)), POLD1(NM_002691.4):c.80A>T (p.D27V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50398931A>T" "" "likely benign" "" "0000249310" "0" "30" "19" "50906742" "50906742" "subst" "0.000585942" "02325" "POLD1_000032" "g.50906742A>G" "" "" "" "POLD1(NM_001256849.1):c.1138-8A>G, POLD1(NM_001308632.1):c.1138-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403485A>G" "" "likely benign" "" "0000250249" "0" "30" "19" "50902188" "50902188" "subst" "0.00195191" "02329" "POLD1_000008" "g.50902188A>T" "" "" "" "POLD1(NM_001256849.1):c.80A>T (p.D27V, p.(Asp27Val)), POLD1(NM_002691.4):c.80A>T (p.D27V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50398931A>T" "" "likely benign" "" "0000294078" "0" "10" "19" "50906785" "50906785" "subst" "0.0067083" "02330" "POLD1_000033" "g.50906785C>T" "" "" "" "POLD1(NM_001256849.1):c.1173C>T (p.D391=, p.(Asp391=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403528C>T" "" "benign" "" "0000294079" "0" "30" "19" "50906794" "50906794" "subst" "0.000142129" "02330" "POLD1_000034" "g.50906794C>T" "" "" "" "POLD1(NM_001256849.1):c.1182C>T (p.T394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403537C>T" "" "likely benign" "" "0000294080" "0" "10" "19" "50909765" "50909765" "subst" "0.104963" "02330" "POLD1_000037" "g.50909765C>T" "" "" "" "POLD1(NM_001256849.1):c.1485C>T (p.T495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50406508C>T" "" "benign" "" "0000294081" "0" "50" "19" "50910261" "50910261" "subst" "4.15908E-6" "02330" "POLD1_000038" "g.50910261C>T" "" "" "" "POLD1(NM_001256849.1):c.1516C>T (p.R506C), POLD1(NM_002691.3):c.1516C>T (p.(Arg506Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50407004C>T" "" "VUS" "" "0000294082" "0" "10" "19" "50910284" "50910284" "subst" "0.0109266" "02330" "POLD1_000039" "g.50910284G>A" "" "" "" "POLD1(NM_001256849.1):c.1539G>A (p.L513=, p.(Leu513=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50407027G>A" "" "benign" "" "0000294083" "0" "10" "19" "50910293" "50910293" "subst" "0.0109287" "02330" "POLD1_000040" "g.50910293C>T" "" "" "" "POLD1(NM_001256849.1):c.1548C>T (p.A516=, p.(Ala516=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50407036C>T" "" "benign" "" "0000294084" "0" "30" "19" "50910371" "50910371" "subst" "8.58376E-5" "02330" "POLD1_000041" "g.50910371C>T" "" "" "" "POLD1(NM_001256849.1):c.1626C>T (p.P542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50407114C>T" "" "likely benign" "" "0000294085" "0" "30" "19" "50910441" "50910441" "subst" "2.96231E-5" "02330" "POLD1_000042" "g.50910441C>T" "" "" "" "POLD1(NM_001256849.1):c.1686+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50407184C>T" "" "likely benign" "" "0000294086" "0" "10" "19" "50910658" "50910658" "subst" "0.00247504" "02330" "POLD1_000043" "g.50910658C>T" "" "" "" "POLD1(NM_001256849.1):c.1761C>T (p.I587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50407401C>T" "" "benign" "" "0000294087" "0" "10" "19" "50912126" "50912126" "subst" "0.00846026" "02330" "POLD1_000046" "g.50912126G>A" "" "" "" "POLD1(NM_001256849.1):c.1860G>A (p.T620=, p.(Thr620=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50408869G>A" "" "benign" "" "0000294088" "0" "10" "19" "50912463" "50912463" "subst" "0.00250982" "02330" "POLD1_000047" "g.50912463C>T" "" "" "" "POLD1(NM_001256849.1):c.1977C>T (p.I659=, p.(Ile659=)), POLD1(NM_002691.4):c.1977C>T (p.I659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409206C>T" "" "benign" "" "0000294089" "0" "30" "19" "50912481" "50912481" "subst" "8.14412E-6" "02330" "POLD1_000048" "g.50912481T>C" "" "" "" "POLD1(NM_001256849.1):c.1995T>C (p.S665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409224T>C" "" "likely benign" "" "0000294090" "0" "30" "19" "50912509" "50912509" "subst" "0.000448568" "02330" "POLD1_000050" "g.50912509G>A" "" "" "" "POLD1(NM_001256849.1):c.2006+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409252G>A" "" "likely benign" "" "0000294091" "0" "10" "19" "50912772" "50912772" "subst" "0.00124445" "02330" "POLD1_000051" "g.50912772G>A" "" "" "" "POLD1(NM_001256849.1):c.2007-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409515G>A" "" "benign" "" "0000294092" "0" "10" "19" "50912872" "50912872" "subst" "0.000754683" "02330" "POLD1_000053" "g.50912872C>T" "" "" "" "POLD1(NM_001256849.1):c.2103C>T (p.Y701=, p.(Tyr701=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409615C>T" "" "benign" "" "0000294093" "0" "10" "19" "50916772" "50916772" "subst" "0.0306998" "02330" "POLD1_000056" "g.50916772T>C" "" "" "" "POLD1(NM_001256849.1):c.2244T>C (p.S748=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50413515T>C" "" "benign" "" "0000294094" "0" "50" "19" "50916783" "50916783" "subst" "8.84635E-6" "02330" "POLD1_000057" "g.50916783G>C" "" "" "" "POLD1(NM_001256849.1):c.2250+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50413526G>C" "" "VUS" "" "0000294095" "0" "30" "19" "50917085" "50917085" "subst" "0.000172212" "02330" "POLD1_000060" "g.50917085G>A" "" "" "" "POLD1(NM_001256849.1):c.2337G>A (p.A779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50413828G>A" "" "likely benign" "" "0000294096" "0" "10" "19" "50902659" "50902659" "subst" "0.00838865" "02330" "POLD1_000012" "g.50902659C>G" "" "" "" "POLD1(NM_001256849.1):c.234C>G (p.R78=, p.(Arg78=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50399402C>G" "" "benign" "" "0000294097" "0" "10" "19" "50918229" "50918229" "subst" "0.00785077" "02330" "POLD1_000061" "g.50918229G>A" "" "" "" "POLD1(NM_001256849.1):c.2546G>A (p.R849H, p.(Arg849His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50414972G>A" "" "benign" "" "0000294098" "0" "10" "19" "50918976" "50918976" "subst" "0.000267113" "02330" "POLD1_000064" "g.50918976C>T" "" "" "" "POLD1(NM_001256849.1):c.2718-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50415719C>T" "" "benign" "" "0000294099" "0" "10" "19" "50919694" "50919694" "subst" "0.00223172" "02330" "POLD1_000066" "g.50919694G>C" "" "" "" "POLD1(NM_001256849.1):c.2862G>C (p.T954=, p.(Thr954=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416437G>C" "" "benign" "" "0000294100" "0" "10" "19" "50919797" "50919797" "subst" "0.582503" "02330" "POLD1_000067" "g.50919797C>T" "" "" "" "POLD1(NM_001256849.1):c.2953+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416540C>T" "" "benign" "" "0000294101" "0" "10" "19" "50919799" "50919800" "del" "6.76801E-6" "02330" "POLD1_000068" "g.50919799_50919800del" "" "" "" "POLD1(NM_001256849.1):c.2953+14_2953+15delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416542_50416543del" "" "benign" "" "0000294102" "0" "30" "19" "50919880" "50919880" "subst" "0.00145058" "02330" "POLD1_000070" "g.50919880G>A" "" "" "" "POLD1(NM_001256849.1):c.2967G>A (p.T989=, p.(Thr989=)), POLD1(NM_001308632.1):c.3045G>A (p.T1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416623G>A" "" "likely benign" "" "0000294103" "0" "30" "19" "50919892" "50919892" "subst" "0.000210729" "02330" "POLD1_000071" "g.50919892G>A" "" "" "" "POLD1(NM_001256849.1):c.2979G>A (p.T993=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416635G>A" "" "likely benign" "" "0000294104" "0" "10" "19" "50919967" "50919967" "subst" "0.000516113" "02330" "POLD1_000073" "g.50919967G>A" "" "" "" "POLD1(NM_001256849.1):c.3054G>A (p.V1018=, p.(Val1018=)), POLD1(NM_001308632.1):c.3132G>A (p.V1044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416710G>A" "" "benign" "" "0000294105" "0" "10" "19" "50920294" "50920294" "subst" "0" "02330" "POLD1_000075" "g.50920294C>G" "" "" "" "POLD1(NM_001256849.1):c.3068-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50417037C>G" "" "benign" "" "0000294106" "0" "10" "19" "50920410" "50920410" "subst" "0.030197" "02330" "POLD1_000076" "g.50920410C>T" "" "" "" "POLD1(NM_001256849.1):c.3121-19C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50417153C>T" "" "benign" "" "0000294109" "0" "10" "19" "50905042" "50905042" "subst" "0.110365" "02330" "POLD1_000013" "g.50905042G>A" "" "" "" "POLD1(NM_001256849.1):c.324G>A (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401785G>A" "" "benign" "" "0000294110" "0" "10" "19" "50902141" "50902141" "subst" "0.00372145" "02330" "POLD1_000006" "g.50902141C>T" "" "" "" "POLD1(NM_001256849.1):c.33C>T (p.P11=, p.(Pro11=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50398884C>T" "" "benign" "" "0000294111" "0" "10" "19" "50905074" "50905074" "subst" "0.109759" "02330" "POLD1_000015" "g.50905074G>A" "" "" "" "POLD1(NM_001256849.1):c.356G>A (p.R119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401817G>A" "" "benign" "" "0000294112" "0" "30" "19" "50905144" "50905144" "subst" "1.21915E-5" "02330" "POLD1_000016" "g.50905144C>T" "" "" "" "POLD1(NM_001256849.1):c.426C>T (p.H142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401887C>T" "" "likely benign" "" "0000294113" "0" "10" "19" "50905151" "50905151" "subst" "0.00275527" "02330" "POLD1_000017" "g.50905151G>A" "" "" "" "POLD1(NM_001256849.1):c.433G>A (p.A145T, p.(Ala145Thr)), POLD1(NM_001308632.1):c.433G>A (p.A145T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401894G>A" "" "benign" "" "0000294114" "0" "10" "19" "50905189" "50905189" "subst" "0.10963" "02330" "POLD1_000019" "g.50905189G>T" "" "" "" "POLD1(NM_001256849.1):c.463+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401932G>T" "" "benign" "" "0000294115" "0" "10" "19" "50905190" "50905190" "subst" "0.00611358" "02330" "POLD1_000020" "g.50905190C>T" "" "" "" "POLD1(NM_001256849.1):c.463+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401933C>T" "" "benign" "" "0000294116" "0" "30" "19" "50905244" "50905244" "subst" "4.06352E-6" "02330" "POLD1_000021" "g.50905244C>T" "" "" "" "POLD1(NM_001256849.1):c.464-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401987C>T" "" "likely benign" "" "0000294117" "0" "10" "19" "50905310" "50905310" "subst" "0.00744085" "02330" "POLD1_000022" "g.50905310G>A" "" "" "" "POLD1(NM_001256849.1):c.518G>A (p.S173N, p.(Ser173Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402053G>A" "" "benign" "" "0000294118" "0" "30" "19" "50905504" "50905504" "subst" "7.33961E-5" "02330" "POLD1_000023" "g.50905504G>A" "" "" "" "POLD1(NM_001256849.1):c.632G>A (p.R211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402247G>A" "" "likely benign" "" "0000294119" "0" "30" "19" "50905566" "50905566" "subst" "2.47468E-5" "02330" "POLD1_000024" "g.50905566C>T" "" "" "" "POLD1(NM_001256849.1):c.694C>T (p.R232C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402309C>T" "" "likely benign" "" "0000294120" "0" "10" "19" "50905762" "50905762" "subst" "0.033163" "02330" "POLD1_000025" "g.50905762T>C" "" "" "" "POLD1(NM_001256849.1):c.810T>C (p.A270=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402505T>C" "" "benign" "" "0000294121" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02330" "POLD1_000027" "g.50905911G>A" "" "" "" "POLD1(NM_001256849.1):c.883G>A (p.V295M), POLD1(NM_002691.4):c.883G>A (p.V295M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402654G>A" "" "likely benign" "" "0000294122" "0" "10" "19" "50902196" "50902196" "subst" "0.00821459" "02330" "POLD1_000009" "g.50902196C>T" "" "" "" "POLD1(NM_001256849.1):c.88C>T (p.R30W, p.(Arg30Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50398939C>T" "" "benign" "" "0000294123" "0" "50" "19" "50905989" "50905989" "subst" "0.000354227" "02330" "POLD1_000005" "g.50905989G>A" "" "" "" "POLD1(NM_001256849.1):c.961G>A (p.G321S, p.(Gly321Ser)), POLD1(NM_002691.4):c.961G>A (p.G321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402732G>A" "" "VUS" "" "0000294124" "0" "10" "19" "50906298" "50906298" "subst" "0.00780339" "02330" "POLD1_000028" "g.50906298C>T" "" "" "" "POLD1(NM_001256849.1):c.971-12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403041C>T" "" "benign" "" "0000294125" "0" "30" "19" "50906305" "50906305" "subst" "1.95822E-5" "02330" "POLD1_000029" "g.50906305C>G" "" "" "" "POLD1(NM_001256849.1):c.971-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403048C>G" "" "likely benign" "" "0000297209" "0" "30" "19" "50912463" "50912463" "subst" "0.00250982" "02325" "POLD1_000047" "g.50912463C>T" "" "" "" "POLD1(NM_001256849.1):c.1977C>T (p.I659=, p.(Ile659=)), POLD1(NM_002691.4):c.1977C>T (p.I659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409206C>T" "" "likely benign" "" "0000297210" "0" "30" "19" "50916706" "50916706" "subst" "7.35318E-5" "02325" "POLD1_000055" "g.50916706G>C" "" "" "" "POLD1(NM_001256849.1):c.2178G>C (p.Q726H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50413449G>C" "" "likely benign" "" "0000297211" "0" "30" "19" "50918842" "50918842" "subst" "2.50484E-5" "02325" "POLD1_000062" "g.50918842C>T" "" "" "" "POLD1(NM_001256849.1):c.2712C>T (p.A904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50415585C>T" "" "likely benign" "" "0000298963" "0" "30" "19" "50906379" "50906379" "subst" "4.2889E-5" "02329" "POLD1_000030" "g.50906379C>T" "" "" "" "POLD1(NM_001256849.1):c.1040C>T (p.P347L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403122C>T" "" "likely benign" "" "0000298964" "0" "30" "19" "50906486" "50906486" "subst" "5.46732E-5" "02329" "POLD1_000031" "g.50906486G>A" "" "" "" "POLD1(NM_001256849.1):c.1137+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403229G>A" "" "likely benign" "" "0000298965" "0" "10" "19" "50906785" "50906785" "subst" "0.0067083" "02329" "POLD1_000033" "g.50906785C>T" "" "" "" "POLD1(NM_001256849.1):c.1173C>T (p.D391=, p.(Asp391=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403528C>T" "" "benign" "" "0000298966" "0" "30" "19" "50909466" "50909466" "subst" "0" "02329" "POLD1_000035" "g.50909466G>T" "" "" "" "POLD1(NM_001256849.1):c.1270G>T (p.V424L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50406209G>T" "" "likely benign" "" "0000298967" "0" "10" "19" "50910284" "50910284" "subst" "0.0109266" "02329" "POLD1_000039" "g.50910284G>A" "" "" "" "POLD1(NM_001256849.1):c.1539G>A (p.L513=, p.(Leu513=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50407027G>A" "" "benign" "" "0000298968" "0" "10" "19" "50910293" "50910293" "subst" "0.0109287" "02329" "POLD1_000040" "g.50910293C>T" "" "" "" "POLD1(NM_001256849.1):c.1548C>T (p.A516=, p.(Ala516=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50407036C>T" "" "benign" "" "0000298969" "0" "30" "19" "50912022" "50912022" "subst" "3.27305E-5" "02329" "POLD1_000044" "g.50912022C>T" "" "" "" "POLD1(NM_001256849.1):c.1776-20C>T (p.(=)), POLD1(NM_001308632.1):c.1834C>T (p.R612C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50408765C>T" "" "likely benign" "" "0000298970" "0" "30" "19" "50912051" "50912051" "subst" "0.000138248" "02329" "POLD1_000045" "g.50912051C>T" "" "" "" "POLD1(NM_001256849.1):c.1785C>T (p.D595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50408794C>T" "" "likely benign" "" "0000298971" "0" "10" "19" "50912126" "50912126" "subst" "0.00846026" "02329" "POLD1_000046" "g.50912126G>A" "" "" "" "POLD1(NM_001256849.1):c.1860G>A (p.T620=, p.(Thr620=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50408869G>A" "" "benign" "" "0000298972" "0" "10" "19" "50912463" "50912463" "subst" "0.00250982" "02329" "POLD1_000047" "g.50912463C>T" "" "" "" "POLD1(NM_001256849.1):c.1977C>T (p.I659=, p.(Ile659=)), POLD1(NM_002691.4):c.1977C>T (p.I659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409206C>T" "" "benign" "" "0000298973" "0" "30" "19" "50912508" "50912508" "subst" "0.000207027" "02329" "POLD1_000049" "g.50912508C>T" "" "" "" "POLD1(NM_001256849.1):c.2006+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409251C>T" "" "likely benign" "" "0000298974" "0" "10" "19" "50912772" "50912772" "subst" "0.00124445" "02329" "POLD1_000051" "g.50912772G>A" "" "" "" "POLD1(NM_001256849.1):c.2007-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409515G>A" "" "benign" "" "0000298975" "0" "30" "19" "50912821" "50912821" "subst" "0.000440618" "02329" "POLD1_000052" "g.50912821G>C" "" "" "" "POLD1(NM_001256849.1):c.2052G>C (p.Q684H), POLD1(NM_001308632.1):c.2130G>C (p.Q710H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50409564G>C" "" "likely benign" "" "0000298976" "0" "30" "19" "50902633" "50902633" "subst" "0.000288712" "02329" "POLD1_000010" "g.50902633G>T" "" "" "" "POLD1(NM_001256849.1):c.208G>T (p.V70F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50399376G>T" "" "likely benign" "" "0000298977" "0" "30" "19" "50916677" "50916677" "subst" "4.93125E-5" "02329" "POLD1_000054" "g.50916677C>T" "" "" "" "POLD1(NM_001256849.1):c.2155-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50413420C>T" "" "likely benign" "" "0000298978" "0" "30" "19" "50916706" "50916706" "subst" "7.35318E-5" "02329" "POLD1_000055" "g.50916706G>C" "" "" "" "POLD1(NM_001256849.1):c.2178G>C (p.Q726H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50413449G>C" "" "likely benign" "" "0000298979" "0" "30" "19" "50916790" "50916790" "subst" "0" "02329" "POLD1_000058" "g.50916790C>T" "" "" "" "POLD1(NM_001256849.1):c.2250+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50413533C>T" "" "likely benign" "" "0000298980" "0" "30" "19" "50917023" "50917023" "subst" "0.00184762" "02329" "POLD1_000059" "g.50917023G>A" "" "" "" "POLD1(NM_001256849.1):c.2275G>A (p.V759I, p.(Val759Ile)), POLD1(NM_001308632.1):c.2353G>A (p.V785I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50413766G>A" "" "likely benign" "" "0000298981" "0" "10" "19" "50902659" "50902659" "subst" "0.00838865" "02329" "POLD1_000012" "g.50902659C>G" "" "" "" "POLD1(NM_001256849.1):c.234C>G (p.R78=, p.(Arg78=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50399402C>G" "" "benign" "" "0000298982" "0" "30" "19" "50918229" "50918229" "subst" "0.00785077" "02329" "POLD1_000061" "g.50918229G>A" "" "" "" "POLD1(NM_001256849.1):c.2546G>A (p.R849H, p.(Arg849His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50414972G>A" "" "likely benign" "" "0000298983" "0" "30" "19" "50919026" "50919026" "subst" "6.65484E-5" "02329" "POLD1_000065" "g.50919026C>T" "" "" "" "POLD1(NM_001256849.1):c.2763C>T (p.R921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50415769C>T" "" "likely benign" "" "0000298984" "0" "10" "19" "50919694" "50919694" "subst" "0.00223172" "02329" "POLD1_000066" "g.50919694G>C" "" "" "" "POLD1(NM_001256849.1):c.2862G>C (p.T954=, p.(Thr954=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416437G>C" "" "benign" "" "0000298985" "0" "30" "19" "50919858" "50919858" "subst" "0" "02329" "POLD1_000069" "g.50919858C>A" "" "" "" "POLD1(NM_001256849.1):c.2954-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416601C>A" "" "likely benign" "" "0000298986" "0" "30" "19" "50919880" "50919880" "subst" "0.00145058" "02329" "POLD1_000070" "g.50919880G>A" "" "" "" "POLD1(NM_001256849.1):c.2967G>A (p.T989=, p.(Thr989=)), POLD1(NM_001308632.1):c.3045G>A (p.T1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416623G>A" "" "likely benign" "" "0000298987" "0" "30" "19" "50919999" "50919999" "subst" "0" "02329" "POLD1_000074" "g.50919999T>C" "" "" "" "POLD1(NM_001256849.1):c.3067+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50416742T>C" "" "likely benign" "" "0000298988" "0" "30" "19" "50921095" "50921095" "subst" "0" "02329" "POLD1_000079" "g.50921095G>A" "" "" "" "POLD1(NM_001256849.1):c.3219-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50417838G>A" "" "likely benign" "" "0000298989" "0" "10" "19" "50905042" "50905042" "subst" "0.00252333" "02329" "POLD1_000014" "g.50905042G>T" "" "" "" "POLD1(NM_001256849.1):c.324G>T (p.(Ala108=), p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401785G>T" "" "benign" "" "0000298990" "0" "10" "19" "50905190" "50905190" "subst" "0.00611358" "02329" "POLD1_000020" "g.50905190C>T" "" "" "" "POLD1(NM_001256849.1):c.463+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401933C>T" "" "benign" "" "0000298991" "0" "10" "19" "50905310" "50905310" "subst" "0.00744085" "02329" "POLD1_000022" "g.50905310G>A" "" "" "" "POLD1(NM_001256849.1):c.518G>A (p.S173N, p.(Ser173Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402053G>A" "" "benign" "" "0000298992" "0" "10" "19" "50902164" "50902164" "subst" "0.00527361" "02329" "POLD1_000007" "g.50902164G>A" "" "" "" "POLD1(NM_001256849.1):c.56G>A (p.R19H), POLD1(NM_001308632.1):c.56G>A (p.R19H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50398907G>A" "" "benign" "" "0000298993" "0" "10" "19" "50905877" "50905877" "subst" "0.00256549" "02329" "POLD1_000026" "g.50905877G>T" "" "" "" "POLD1(NM_001256849.1):c.849G>T (p.Q283H), POLD1(NM_002691.4):c.849G>T (p.Q283H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402620G>T" "" "benign" "" "0000298994" "0" "10" "19" "50902196" "50902196" "subst" "0.00821459" "02329" "POLD1_000009" "g.50902196C>T" "" "" "" "POLD1(NM_001256849.1):c.88C>T (p.R30W, p.(Arg30Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50398939C>T" "" "benign" "" "0000298995" "0" "50" "19" "50905989" "50905989" "subst" "0.000354227" "02329" "POLD1_000005" "g.50905989G>A" "" "" "" "POLD1(NM_001256849.1):c.961G>A (p.G321S, p.(Gly321Ser)), POLD1(NM_002691.4):c.961G>A (p.G321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402732G>A" "" "VUS" "" "0000298996" "0" "10" "19" "50906298" "50906298" "subst" "0.00780339" "02329" "POLD1_000028" "g.50906298C>T" "" "" "" "POLD1(NM_001256849.1):c.971-12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50403041C>T" "" "benign" "" "0000306058" "0" "30" "19" "50909558" "50909558" "subst" "6.09726E-5" "01943" "POLD1_000036" "g.50909558C>T" "" "" "" "POLD1(NM_001256849.1):c.1362C>T (p.R454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50406301C>T" "" "likely benign" "" "0000306059" "0" "30" "19" "50905151" "50905151" "subst" "0.00275527" "01943" "POLD1_000017" "g.50905151G>A" "" "" "" "POLD1(NM_001256849.1):c.433G>A (p.A145T, p.(Ala145Thr)), POLD1(NM_001308632.1):c.433G>A (p.A145T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401894G>A" "" "likely benign" "" "0000306060" "0" "50" "19" "50905173" "50905173" "subst" "0.000475815" "01943" "POLD1_000018" "g.50905173C>T" "" "" "" "POLD1(NM_001256849.1):c.455C>T (p.A152V, p.(Ala152Val)), POLD1(NM_001308632.1):c.455C>T (p.A152V), POLD1(NM_002691.4):c.455C>T (p.A152V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401916C>T" "" "VUS" "" "0000306061" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "01943" "POLD1_000027" "g.50905911G>A" "" "" "" "POLD1(NM_001256849.1):c.883G>A (p.V295M), POLD1(NM_002691.4):c.883G>A (p.V295M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50402654G>A" "" "likely benign" "" "0000326746" "0" "50" "19" "50905173" "50905173" "subst" "0.000475815" "01804" "POLD1_000018" "g.50905173C>T" "" "" "" "POLD1(NM_001256849.1):c.455C>T (p.A152V, p.(Ala152Val)), POLD1(NM_001308632.1):c.455C>T (p.A152V), POLD1(NM_002691.4):c.455C>T (p.A152V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50401916C>T" "" "VUS" "" "0000326747" "0" "50" "19" "50917023" "50917023" "subst" "0.00184762" "01804" "POLD1_000059" "g.50917023G>A" "" "" "" "POLD1(NM_001256849.1):c.2275G>A (p.V759I, p.(Val759Ile)), POLD1(NM_001308632.1):c.2353G>A (p.V785I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50413766G>A" "" "VUS" "" "0000326748" "0" "50" "19" "50918229" "50918229" "subst" "0.00785077" "01804" "POLD1_000061" "g.50918229G>A" "" "" "" "POLD1(NM_001256849.1):c.2546G>A (p.R849H, p.(Arg849His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50414972G>A" "" "VUS" "" "0000338345" "0" "30" "19" "50909778" "50909778" "subst" "0" "02327" "POLD1_000080" "g.50909778C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50406521C>G" "" "likely benign" "" "0000340217" "0" "10" "19" "50909765" "50909765" "subst" "0.104963" "02327" "POLD1_000037" "g.50909765C>T" "" "" "" "POLD1(NM_001256849.1):c.1485C>T (p.T495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50406508C>T" "" "benign" "" "0000340218" "0" "30" "19" "50910410" "50910410" "subst" "0.00078748" "02327" "POLD1_000081" "g.50910410C>T" "" "" "" "POLD1(NM_001256849.1):c.1665C>T (p.V555=, p.(Val555=)), POLD1(NM_001308632.1):c.1665C>T (p.V555=), POLD1(NM_002691.4):c.1665C>T (p.V555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50407153C>T" "" "likely benign" "" "0000408625" "0" "50" "19" "50902163" "50902163" "subst" "0.000230055" "02751" "POLD1_000083" "g.50902163C>T" "" "{PMID:Spier 2015:25529843}" "" "" "variant not included in penetrance analysis" "Germline" "" "" "0" "" "" "g.50398906C>T" "" "VUS" "" "0000568193" "0" "30" "19" "50887656" "50887656" "subst" "0" "01943" "POLD1_000084" "g.50887656A>G" "" "" "" "POLD1(NM_001256849.1):c.-5+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50384399A>G" "" "likely benign" "" "0000568194" "0" "30" "19" "50902089" "50902089" "subst" "0" "02330" "POLD1_000085" "g.50902089G>T" "" "" "" "POLD1(NM_001256849.1):c.-4-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50398832G>T" "" "likely benign" "" "0000568195" "0" "10" "19" "50902164" "50902164" "subst" "0.00527361" "02330" "POLD1_000007" "g.50902164G>A" "" "" "" "POLD1(NM_001256849.1):c.56G>A (p.R19H), POLD1(NM_001308632.1):c.56G>A (p.R19H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50398907G>A" "" "benign" "" "0000568196" "0" "10" "19" "50902164" "50902164" "subst" "0.00527361" "01943" "POLD1_000007" "g.50902164G>A" "" "" "" "POLD1(NM_001256849.1):c.56G>A (p.R19H), POLD1(NM_001308632.1):c.56G>A (p.R19H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50398907G>A" "" "benign" "" "0000568197" "0" "30" "19" "50902196" "50902196" "subst" "0.00821459" "01804" "POLD1_000009" "g.50902196C>T" "" "" "" "POLD1(NM_001256849.1):c.88C>T (p.R30W, p.(Arg30Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50398939C>T" "" "likely benign" "" "0000568198" "0" "50" "19" "50902212" "50902212" "subst" "0" "02325" "POLD1_000086" "g.50902212A>T" "" "" "" "POLD1(NM_001256849.1):c.104A>T (p.E35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50398955A>T" "" "VUS" "" "0000568199" "0" "30" "19" "50902621" "50902622" "dup" "0" "02330" "POLD1_000087" "g.50902621_50902622dup" "" "" "" "POLD1(NM_001256849.1):c.203-7_203-6dupCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50399364_50399365dup" "" "likely benign" "" "0000568200" "0" "50" "19" "50902690" "50902693" "del" "0" "01804" "POLD1_000088" "g.50902690_50902693del" "" "" "" "POLD1(NM_001256849.1):c.264_267del (p.(Pro89ArgfsTer79))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50399433_50399436del" "" "VUS" "" "0000568202" "0" "30" "19" "50905062" "50905062" "subst" "0" "02330" "POLD1_000090" "g.50905062C>A" "" "" "" "POLD1(NM_001256849.1):c.344C>A (p.P115H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50401805C>A" "" "likely benign" "" "0000568203" "0" "30" "19" "50905089" "50905089" "subst" "0.000227961" "02330" "POLD1_000091" "g.50905089T>C" "" "" "" "POLD1(NM_001256849.1):c.371T>C (p.V124A), POLD1(NM_001308632.1):c.371T>C (p.V124A), POLD1(NM_002691.4):c.371T>C (p.V124A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50401832T>C" "" "likely benign" "" "0000568204" "0" "30" "19" "50905089" "50905089" "subst" "0.000227961" "01943" "POLD1_000091" "g.50905089T>C" "" "" "" "POLD1(NM_001256849.1):c.371T>C (p.V124A), POLD1(NM_001308632.1):c.371T>C (p.V124A), POLD1(NM_002691.4):c.371T>C (p.V124A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50401832T>C" "" "likely benign" "" "0000568205" "0" "30" "19" "50905096" "50905096" "subst" "0.00174943" "02330" "POLD1_000092" "g.50905096C>T" "" "" "" "POLD1(NM_001256849.1):c.378C>T (p.R126=), POLD1(NM_001308632.1):c.378C>T (p.R126=), POLD1(NM_002691.4):c.378C>T (p.R126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50401839C>T" "" "likely benign" "" "0000568206" "0" "30" "19" "50905173" "50905173" "subst" "0.000475815" "02325" "POLD1_000018" "g.50905173C>T" "" "" "" "POLD1(NM_001256849.1):c.455C>T (p.A152V, p.(Ala152Val)), POLD1(NM_001308632.1):c.455C>T (p.A152V), POLD1(NM_002691.4):c.455C>T (p.A152V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50401916C>T" "" "likely benign" "" "0000568207" "0" "30" "19" "50905313" "50905313" "subst" "8.12969E-5" "02330" "POLD1_000093" "g.50905313G>A" "" "" "" "POLD1(NM_001256849.1):c.521G>A (p.R174Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402056G>A" "" "likely benign" "" "0000568208" "0" "30" "19" "50905366" "50905366" "subst" "7.37481E-5" "02330" "POLD1_000094" "g.50905366C>T" "" "" "" "POLD1(NM_001256849.1):c.574C>T (p.L192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402109C>T" "" "likely benign" "" "0000568209" "0" "50" "19" "50905375" "50905375" "subst" "6.60879E-5" "02325" "POLD1_000095" "g.50905375C>T" "" "" "" "POLD1(NM_001308632.1):c.583C>T (p.R195*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402118C>T" "" "VUS" "" "0000568210" "0" "50" "19" "50905524" "50905524" "subst" "0" "02325" "POLD1_000096" "g.50905524C>T" "" "" "" "POLD1(NM_002691.4):c.652C>T (p.R218C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402267C>T" "" "VUS" "" "0000568211" "0" "50" "19" "50905546" "50905546" "subst" "1.65704E-5" "01943" "POLD1_000097" "g.50905546G>A" "" "" "" "POLD1(NM_001308632.1):c.674G>A (p.R225H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402289G>A" "" "VUS" "" "0000568212" "0" "30" "19" "50905586" "50905586" "subst" "0.000198214" "02330" "POLD1_000098" "g.50905586G>A" "" "" "" "POLD1(NM_001256849.1):c.714G>A (p.T238=), POLD1(NM_002691.4):c.714G>A (p.T238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402329G>A" "" "likely benign" "" "0000568213" "0" "30" "19" "50905725" "50905725" "subst" "0.000515537" "01804" "POLD1_000099" "g.50905725C>T" "" "" "" "POLD1(NM_001256849.1):c.773C>T (p.(Thr258Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402468C>T" "" "likely benign" "" "0000568214" "0" "30" "19" "50905985" "50905985" "subst" "7.59481E-5" "02327" "POLD1_000100" "g.50905985C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402728C>T" "" "likely benign" "" "0000568215" "0" "50" "19" "50905989" "50905989" "subst" "0.000354227" "02325" "POLD1_000005" "g.50905989G>A" "" "" "" "POLD1(NM_001256849.1):c.961G>A (p.G321S, p.(Gly321Ser)), POLD1(NM_002691.4):c.961G>A (p.G321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402732G>A" "" "VUS" "" "0000568216" "0" "10" "19" "50906026" "50906026" "subst" "0.00894281" "02327" "POLD1_000101" "g.50906026C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402769C>T" "" "benign" "" "0000568217" "0" "10" "19" "50906291" "50906291" "subst" "0.000248076" "02330" "POLD1_000102" "g.50906291G>A" "" "" "" "POLD1(NM_001256849.1):c.971-19G>A, POLD1(NM_002691.3):c.971-19G>A (p.(=)), POLD1(NM_002691.4):c.971-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50403034G>A" "" "benign" "" "0000568218" "0" "30" "19" "50906380" "50906380" "subst" "0" "02330" "POLD1_000103" "g.50906380G>A" "" "" "" "POLD1(NM_001256849.1):c.1041G>A (p.P347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50403123G>A" "" "likely benign" "" "0000568219" "0" "10" "19" "50906529" "50906529" "subst" "0" "02327" "POLD1_000104" "g.50906529G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50403272G>A" "" "benign" "" "0000568220" "0" "30" "19" "50906742" "50906742" "subst" "0.000585942" "02327" "POLD1_000032" "g.50906742A>G" "" "" "" "POLD1(NM_001256849.1):c.1138-8A>G, POLD1(NM_001308632.1):c.1138-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50403485A>G" "" "likely benign" "" "0000568221" "0" "30" "19" "50909396" "50909396" "subst" "0.000131765" "02327" "POLD1_000105" "g.50909396C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50406139C>T" "" "likely benign" "" "0000568222" "0" "10" "19" "50909405" "50909405" "subst" "0.0266987" "02327" "POLD1_000106" "g.50909405G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50406148G>A" "" "benign" "" "0000568223" "0" "30" "19" "50909432" "50909432" "subst" "0" "02330" "POLD1_000107" "g.50909432T>A" "" "" "" "POLD1(NM_001256849.1):c.1243-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50406175T>A" "" "likely benign" "" "0000568224" "0" "10" "19" "50909471" "50909471" "subst" "0.00179597" "02327" "POLD1_000108" "g.50909471C>T" "" "" "" "POLD1(NM_001256849.1):c.1275C>T (p.(Ala425=), p.A425=), POLD1(NM_001308632.1):c.1275C>T (p.A425=), POLD1(NM_002691.4):c.1275C>T (p.A425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50406214C>T" "" "benign" "" "0000568225" "0" "10" "19" "50909471" "50909471" "subst" "0.00179597" "02329" "POLD1_000108" "g.50909471C>T" "" "" "" "POLD1(NM_001256849.1):c.1275C>T (p.(Ala425=), p.A425=), POLD1(NM_001308632.1):c.1275C>T (p.A425=), POLD1(NM_002691.4):c.1275C>T (p.A425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50406214C>T" "" "benign" "" "0000568226" "0" "30" "19" "50909645" "50909652" "del" "0" "02327" "POLD1_000109" "g.50909645_50909652del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50406388_50406395del" "" "likely benign" "" "0000568227" "0" "50" "19" "50909709" "50909709" "subst" "0" "02325" "POLD1_000110" "g.50909709G>A" "" "" "" "POLD1(NM_001308632.1):c.1429G>A (p.V477M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50406452G>A" "" "VUS" "" "0000568228" "0" "30" "19" "50909744" "50909744" "subst" "0" "02327" "POLD1_000111" "g.50909744C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50406487C>T" "" "likely benign" "" "0000568229" "0" "50" "19" "50910238" "50910238" "subst" "0" "02325" "POLD1_000112" "g.50910238A>G" "" "" "" "POLD1(NM_001256849.1):c.1495-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50406981A>G" "" "VUS" "" "0000568230" "0" "10" "19" "50910284" "50910284" "subst" "0.0109266" "01804" "POLD1_000039" "g.50910284G>A" "" "" "" "POLD1(NM_001256849.1):c.1539G>A (p.L513=, p.(Leu513=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407027G>A" "" "benign" "" "0000568231" "0" "10" "19" "50910284" "50910284" "subst" "0.0109266" "02327" "POLD1_000039" "g.50910284G>A" "" "" "" "POLD1(NM_001256849.1):c.1539G>A (p.L513=, p.(Leu513=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407027G>A" "" "benign" "" "0000568232" "0" "50" "19" "50910288" "50910288" "subst" "0" "02327" "POLD1_000113" "g.50910288G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407031G>T" "" "VUS" "" "0000568233" "0" "10" "19" "50910293" "50910293" "subst" "0.0109287" "01804" "POLD1_000040" "g.50910293C>T" "" "" "" "POLD1(NM_001256849.1):c.1548C>T (p.A516=, p.(Ala516=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407036C>T" "" "benign" "" "0000568234" "0" "10" "19" "50910293" "50910293" "subst" "0.0109287" "02327" "POLD1_000040" "g.50910293C>T" "" "" "" "POLD1(NM_001256849.1):c.1548C>T (p.A516=, p.(Ala516=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407036C>T" "" "benign" "" "0000568235" "0" "30" "19" "50910365" "50910365" "subst" "0.000849958" "02330" "POLD1_000114" "g.50910365C>T" "" "" "" "POLD1(NM_001256849.1):c.1620C>T (p.G540=), POLD1(NM_001308632.1):c.1620C>T (p.G540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407108C>T" "" "likely benign" "" "0000568236" "0" "50" "19" "50910365" "50910365" "subst" "0.000849958" "01943" "POLD1_000114" "g.50910365C>T" "" "" "" "POLD1(NM_001256849.1):c.1620C>T (p.G540=), POLD1(NM_001308632.1):c.1620C>T (p.G540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407108C>T" "" "VUS" "" "0000568237" "0" "30" "19" "50910365" "50910365" "subst" "0.000849958" "02327" "POLD1_000114" "g.50910365C>T" "" "" "" "POLD1(NM_001256849.1):c.1620C>T (p.G540=), POLD1(NM_001308632.1):c.1620C>T (p.G540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407108C>T" "" "likely benign" "" "0000568238" "0" "30" "19" "50910365" "50910365" "subst" "0.000849958" "02325" "POLD1_000114" "g.50910365C>T" "" "" "" "POLD1(NM_001256849.1):c.1620C>T (p.G540=), POLD1(NM_001308632.1):c.1620C>T (p.G540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407108C>T" "" "likely benign" "" "0000568239" "0" "30" "19" "50910365" "50910365" "subst" "0.000849958" "02329" "POLD1_000114" "g.50910365C>T" "" "" "" "POLD1(NM_001256849.1):c.1620C>T (p.G540=), POLD1(NM_001308632.1):c.1620C>T (p.G540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407108C>T" "" "likely benign" "" "0000568240" "0" "30" "19" "50910410" "50910410" "subst" "0.00078748" "02330" "POLD1_000081" "g.50910410C>T" "" "" "" "POLD1(NM_001256849.1):c.1665C>T (p.V555=, p.(Val555=)), POLD1(NM_001308632.1):c.1665C>T (p.V555=), POLD1(NM_002691.4):c.1665C>T (p.V555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407153C>T" "" "likely benign" "" "0000568241" "0" "30" "19" "50910593" "50910593" "subst" "5.32106E-5" "01943" "POLD1_000115" "g.50910593G>A" "" "" "" "POLD1(NM_001308632.1):c.1696G>A (p.E566K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407336G>A" "" "likely benign" "" "0000568242" "0" "10" "19" "50910610" "50910610" "subst" "0.00391009" "02330" "POLD1_000116" "g.50910610C>T" "" "" "" "POLD1(NM_001256849.1):c.1713C>T (p.P571=, p.(Pro571=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407353C>T" "" "benign" "" "0000568243" "0" "30" "19" "50912364" "50912364" "subst" "0" "02330" "POLD1_000117" "g.50912364C>T" "" "" "" "POLD1(NM_001256849.1):c.1893-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50409107C>T" "" "likely benign" "" "0000568244" "0" "30" "19" "50912835" "50912835" "subst" "4.07618E-5" "02330" "POLD1_000118" "g.50912835G>A" "" "" "" "POLD1(NM_001256849.1):c.2066G>A (p.R689Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50409578G>A" "" "likely benign" "" "0000568245" "0" "50" "19" "50912835" "50912835" "subst" "4.07618E-5" "02329" "POLD1_000118" "g.50912835G>A" "" "" "" "POLD1(NM_001256849.1):c.2066G>A (p.R689Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50409578G>A" "" "VUS" "" "0000568246" "0" "10" "19" "50912936" "50912937" "ins" "0.00511263" "02330" "POLD1_000119" "g.50912936_50912937insA" "" "" "" "POLD1(NM_001256849.1):c.2154+13_2154+14insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50409679_50409680insA" "" "benign" "" "0000568247" "0" "30" "19" "50916762" "50916762" "subst" "0" "01943" "POLD1_000120" "g.50916762A>T" "" "" "" "POLD1(NM_001308632.1):c.2312A>T (p.Y771F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50413505A>T" "" "likely benign" "" "0000568248" "0" "10" "19" "50916772" "50916772" "subst" "0.0306998" "01804" "POLD1_000056" "g.50916772T>C" "" "" "" "POLD1(NM_001256849.1):c.2244T>C (p.S748=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50413515T>C" "" "benign" "" "0000568249" "0" "30" "19" "50917124" "50917124" "subst" "0" "02330" "POLD1_000121" "g.50917124G>A" "" "" "" "POLD1(NM_001256849.1):c.2376G>A (p.L792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50413867G>A" "" "likely benign" "" "0000568250" "0" "30" "19" "50917141" "50917141" "subst" "5.33011E-5" "01804" "POLD1_000122" "g.50917141G>A" "" "" "" "POLD1(NM_001256849.1):c.2388+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50413884G>A" "" "likely benign" "" "0000568251" "0" "30" "19" "50918200" "50918200" "subst" "8.37956E-6" "02330" "POLD1_000123" "g.50918200C>T" "" "" "" "POLD1(NM_001256849.1):c.2517C>T (p.L839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50414943C>T" "" "likely benign" "" "0000568252" "0" "50" "19" "50918201" "50918201" "subst" "1.67749E-5" "02325" "POLD1_000124" "g.50918201G>A" "" "" "" "POLD1(NM_001256849.1):c.2518G>A (p.V840M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50414944G>A" "" "VUS" "" "0000568254" "0" "30" "19" "50918729" "50918729" "subst" "0.000503187" "02330" "POLD1_000126" "g.50918729G>A" "" "" "" "POLD1(NM_001256849.1):c.2599G>A (p.V867I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50415472G>A" "" "likely benign" "" "0000568255" "0" "30" "19" "50918729" "50918729" "subst" "0.000503187" "02329" "POLD1_000126" "g.50918729G>A" "" "" "" "POLD1(NM_001256849.1):c.2599G>A (p.V867I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50415472G>A" "" "likely benign" "" "0000568256" "0" "30" "19" "50919880" "50919880" "subst" "0.00145058" "01943" "POLD1_000070" "g.50919880G>A" "" "" "" "POLD1(NM_001256849.1):c.2967G>A (p.T989=, p.(Thr989=)), POLD1(NM_001308632.1):c.3045G>A (p.T1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50416623G>A" "" "likely benign" "" "0000568257" "0" "10" "19" "50920410" "50920410" "subst" "0.030197" "01804" "POLD1_000076" "g.50920410C>T" "" "" "" "POLD1(NM_001256849.1):c.3121-19C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50417153C>T" "" "benign" "" "0000568258" "0" "30" "19" "50920414" "50920414" "subst" "0.000161232" "02330" "POLD1_000127" "g.50920414C>T" "" "" "" "POLD1(NM_001256849.1):c.3121-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50417157C>T" "" "likely benign" "" "0000568259" "0" "10" "19" "50920535" "50920535" "subst" "0.00505427" "02329" "POLD1_000128" "g.50920535C>T" "" "" "" "POLD1(NM_001256849.1):c.3218+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50417278C>T" "" "benign" "" "0000568260" "0" "10" "19" "50920536" "50920536" "subst" "0.0348129" "01804" "POLD1_000082" "g.50920536A>G" "" "" "" "POLD1(NM_001256849.1):c.3218+10A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50417279A>G" "" "benign" "" "0000568261" "0" "10" "19" "50921078" "50921089" "dup" "0" "02330" "POLD1_000129" "g.50921078_50921089dup" "" "" "" "POLD1(NM_001256849.1):c.3219-21_3219-10dup (p.(=)), POLD1(NM_001256849.1):c.3219-21_3219-10dupTGCCCCTGCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50417821_50417832dup" "" "benign" "" "0000568262" "0" "10" "19" "50921084" "50921089" "dup" "0" "02330" "POLD1_000130" "g.50921084_50921089dup" "" "" "" "POLD1(NM_001256849.1):c.3219-15_3219-10dup (p.(=)), POLD1(NM_001256849.1):c.3219-15_3219-10dupTGCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50417827_50417832dup" "" "benign" "" "0000580090" "21" "70" "19" "50905132" "50905132" "dup" "0" "03358" "POLD1_000131" "g.50905132dup" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.50401875dup" "" "VUS" "" "0000595581" "0" "50" "19" "50918711" "50918711" "subst" "3.68901E-5" "01164" "POLD1_000132" "g.50918711G>A" "" "" "" "" "" "Germline" "" "rs762113011" "0" "" "" "g.50415454G>A" "" "VUS" "ACMG" "0000595586" "0" "50" "19" "50906379" "50906379" "subst" "4.2889E-5" "01164" "POLD1_000030" "g.50906379C>T" "" "" "" "" "ACMG grading: PM2" "Germline" "" "rs2230243" "0" "" "" "g.50403122C>T" "" "VUS" "ACMG" "0000595745" "0" "50" "19" "50918112" "50918112" "subst" "6.3075E-5" "01164" "POLD1_000133" "g.50918112C>T" "" "" "" "" "ACMG grading: PP3,PM2; reported in Wong 2016. Gynecol Oncol 141: 113" "Germline" "" "rs765981178" "0" "" "" "g.50414855C>T" "" "VUS" "ACMG" "0000597828" "0" "70" "19" "50905381" "50905382" "del" "0" "01779" "POLD1_000135" "g.50905381_50905382del" "" "" "" "584_585delGA" "" "Germline" "yes" "" "0" "" "" "g.50402124_50402125del" "" "pathogenic" "" "0000597829" "0" "70" "19" "50921178" "50921178" "subst" "0" "01779" "POLD1_000134" "g.50921178G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.50417921G>A" "" "pathogenic" "" "0000617828" "0" "50" "19" "50902692" "50902693" "ins" "0" "01804" "POLD1_000137" "g.50902692_50902693insATT" "" "" "" "POLD1(NM_001256849.1):c.267_268insATT (p.(Pro89_Gln90insIle))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50399435_50399436insATT" "" "VUS" "" "0000617829" "0" "30" "19" "50905096" "50905096" "subst" "0.00174943" "01943" "POLD1_000092" "g.50905096C>T" "" "" "" "POLD1(NM_001256849.1):c.378C>T (p.R126=), POLD1(NM_001308632.1):c.378C>T (p.R126=), POLD1(NM_002691.4):c.378C>T (p.R126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50401839C>T" "" "likely benign" "" "0000617830" "0" "30" "19" "50905730" "50905730" "subst" "0.000676618" "02330" "POLD1_000138" "g.50905730A>G" "" "" "" "POLD1(NM_001308632.1):c.778A>G (p.I260V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50402473A>G" "" "likely benign" "" "0000617831" "0" "50" "19" "50906786" "50906786" "subst" "2.43641E-5" "01943" "POLD1_000139" "g.50906786G>A" "" "" "" "POLD1(NM_001308632.1):c.1174G>A (p.V392M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50403529G>A" "" "VUS" "" "0000617832" "0" "30" "19" "50910380" "50910380" "subst" "8.18378E-6" "01943" "POLD1_000140" "g.50910380C>T" "" "" "" "POLD1(NM_001308632.1):c.1635C>T (p.Y545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50407123C>T" "" "likely benign" "" "0000617833" "0" "30" "19" "50917023" "50917023" "subst" "0.00184762" "02330" "POLD1_000059" "g.50917023G>A" "" "" "" "POLD1(NM_001256849.1):c.2275G>A (p.V759I, p.(Val759Ile)), POLD1(NM_001308632.1):c.2353G>A (p.V785I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50413766G>A" "" "likely benign" "" "0000617834" "0" "50" "19" "50917141" "50917141" "subst" "5.33011E-5" "02330" "POLD1_000122" "g.50917141G>A" "" "" "" "POLD1(NM_001256849.1):c.2388+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50413884G>A" "" "VUS" "" "0000617835" "0" "10" "19" "50918758" "50918758" "subst" "0.00240638" "02329" "POLD1_000142" "g.50918758C>T" "" "" "" "POLD1(NM_001256849.1):c.2628C>T (p.I876=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50415501C>T" "" "benign" "" "0000617836" "0" "50" "19" "50919867" "50919867" "subst" "0" "02327" "POLD1_000145" "g.50919867G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50416610G>C" "" "VUS" "" "0000617837" "0" "10" "19" "50920535" "50920535" "subst" "0.00505427" "02330" "POLD1_000128" "g.50920535C>T" "" "" "" "POLD1(NM_001256849.1):c.3218+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50417278C>T" "" "benign" "" "0000624068" "0" "30" "19" "50902313" "50902313" "subst" "2.65763E-5" "01943" "POLD1_000136" "g.50902313A>G" "" "" "" "POLD1(NM_001308632.1):c.202+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50399056A>G" "" "likely benign" "" "0000624069" "0" "10" "19" "50905151" "50905151" "subst" "0.00275527" "02329" "POLD1_000017" "g.50905151G>A" "" "" "" "POLD1(NM_001256849.1):c.433G>A (p.A145T, p.(Ala145Thr)), POLD1(NM_001308632.1):c.433G>A (p.A145T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50401894G>A" "" "benign" "" "0000624070" "0" "30" "19" "50912441" "50912441" "subst" "8.13087E-6" "02330" "POLD1_000141" "g.50912441G>A" "" "" "" "POLD1(NM_001308632.1):c.2033G>A (p.R678Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50409184G>A" "" "likely benign" "" "0000624071" "0" "50" "19" "50919693" "50919693" "subst" "8.74455E-5" "02325" "POLD1_000143" "g.50919693C>T" "" "" "" "POLD1(NM_001308632.1):c.2939C>T (p.T980M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50416436C>T" "" "VUS" "" "0000624072" "0" "30" "19" "50919742" "50919742" "subst" "0" "01943" "POLD1_000144" "g.50919742C>T" "" "" "" "POLD1(NM_001308632.1):c.2988C>T (p.F996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50416485C>T" "" "likely benign" "" "0000624073" "0" "30" "19" "50919975" "50919975" "subst" "0" "02330" "POLD1_000146" "g.50919975A>C" "" "" "" "POLD1(NM_001308632.1):c.3140A>C (p.H1047P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50416718A>C" "" "likely benign" "" "0000650044" "1" "10" "19" "50902196" "50902196" "subst" "0.00821459" "03575" "POLD1_000009" "g.50902196C>T" "55/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "55 heterozygous; {DB:CLININrs3218772}" "Germline" "" "rs3218772" "0" "" "" "g.50398939C>T" "" "benign" "" "0000650045" "1" "50" "19" "50917023" "50917023" "subst" "0.00184762" "03575" "POLD1_000059" "g.50917023G>A" "12/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; {DB:CLININrs145473716}" "Germline" "" "rs145473716" "0" "" "" "g.50413766G>A" "" "VUS" "" "0000650046" "1" "10" "19" "50918229" "50918229" "subst" "0.00785077" "03575" "POLD1_000061" "g.50918229G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs3218775}" "Germline" "" "rs3218775" "0" "" "" "g.50414972G>A" "" "benign" "" "0000658646" "0" "30" "19" "50906742" "50906742" "subst" "0.000585942" "02329" "POLD1_000032" "g.50906742A>G" "" "" "" "POLD1(NM_001256849.1):c.1138-8A>G, POLD1(NM_001308632.1):c.1138-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50403485A>G" "" "likely benign" "" "0000658647" "0" "50" "19" "50906769" "50906769" "subst" "0" "02327" "POLD1_000147" "g.50906769G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50403512G>C" "" "VUS" "" "0000658648" "0" "50" "19" "50912022" "50912022" "subst" "3.27305E-5" "01943" "POLD1_000044" "g.50912022C>T" "" "" "" "POLD1(NM_001256849.1):c.1776-20C>T (p.(=)), POLD1(NM_001308632.1):c.1834C>T (p.R612C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50408765C>T" "" "VUS" "" "0000658649" "0" "30" "19" "50912771" "50912771" "subst" "0.000184212" "02330" "POLD1_000148" "g.50912771C>T" "" "" "" "POLD1(NM_001308632.1):c.2085-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50409514C>T" "" "likely benign" "" "0000658650" "0" "30" "19" "50912821" "50912821" "subst" "0.000440618" "02330" "POLD1_000052" "g.50912821G>C" "" "" "" "POLD1(NM_001256849.1):c.2052G>C (p.Q684H), POLD1(NM_001308632.1):c.2130G>C (p.Q710H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50409564G>C" "" "likely benign" "" "0000658651" "0" "50" "19" "50917038" "50917038" "subst" "6.96756E-5" "02325" "POLD1_000149" "g.50917038G>A" "" "" "" "POLD1(NM_001308632.1):c.2368G>A (p.G790S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50413781G>A" "" "VUS" "" "0000669493" "3" "10" "19" "50902196" "50902196" "subst" "0.00821459" "03575" "POLD1_000009" "g.50902196C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs3218772}" "Germline" "" "rs3218772" "0" "" "" "g.50398939C>T" "" "benign" "" "0000681493" "0" "50" "19" "50902188" "50902188" "subst" "0.00195191" "01804" "POLD1_000008" "g.50902188A>T" "" "" "" "POLD1(NM_001256849.1):c.80A>T (p.D27V, p.(Asp27Val)), POLD1(NM_002691.4):c.80A>T (p.D27V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681494" "0" "30" "19" "50910410" "50910410" "subst" "0.00078748" "01943" "POLD1_000081" "g.50910410C>T" "" "" "" "POLD1(NM_001256849.1):c.1665C>T (p.V555=, p.(Val555=)), POLD1(NM_001308632.1):c.1665C>T (p.V555=), POLD1(NM_002691.4):c.1665C>T (p.V555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681495" "0" "30" "19" "50911967" "50911967" "subst" "0" "01943" "POLD1_000150" "g.50911967G>A" "" "" "" "POLD1(NM_001308632.1):c.1779G>A (p.V593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681496" "0" "50" "19" "50918763" "50918763" "subst" "0" "02325" "POLD1_000151" "g.50918763T>C" "" "" "" "POLD1(NM_001308632.1):c.2711T>C (p.I904T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681497" "0" "30" "19" "50920444" "50920444" "subst" "3.0254E-5" "01943" "POLD1_000152" "g.50920444G>T" "" "" "" "POLD1(NM_001308632.1):c.3214G>T (p.A1072S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692873" "0" "50" "19" "50905983" "50905983" "subst" "0" "02327" "POLD1_000153" "g.50905983T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692874" "0" "30" "19" "50906742" "50906742" "subst" "0.000585942" "01943" "POLD1_000032" "g.50906742A>G" "" "" "" "POLD1(NM_001256849.1):c.1138-8A>G, POLD1(NM_001308632.1):c.1138-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692875" "0" "10" "19" "50909471" "50909471" "subst" "0.00179597" "02330" "POLD1_000108" "g.50909471C>T" "" "" "" "POLD1(NM_001256849.1):c.1275C>T (p.(Ala425=), p.A425=), POLD1(NM_001308632.1):c.1275C>T (p.A425=), POLD1(NM_002691.4):c.1275C>T (p.A425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692876" "0" "50" "19" "50918112" "50918112" "subst" "6.3075E-5" "02325" "POLD1_000133" "g.50918112C>T" "" "" "" "POLD1(NM_002691.4):c.2429C>T (p.A810V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727498" "0" "30" "19" "50902145" "50902145" "subst" "1.29797E-5" "01943" "POLD1_000154" "g.50902145G>A" "" "" "" "POLD1(NM_001308632.1):c.37G>A (p.V13M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727499" "0" "10" "19" "50905877" "50905877" "subst" "0.00256549" "02327" "POLD1_000026" "g.50905877G>T" "" "" "" "POLD1(NM_001256849.1):c.849G>T (p.Q283H), POLD1(NM_002691.4):c.849G>T (p.Q283H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727500" "0" "30" "19" "50909804" "50909804" "subst" "1.96291E-5" "02327" "POLD1_000155" "g.50909804C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727501" "0" "50" "19" "50912413" "50912413" "subst" "0" "02327" "POLD1_000156" "g.50912413G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727502" "0" "30" "19" "50917038" "50917038" "subst" "6.96756E-5" "02327" "POLD1_000149" "g.50917038G>A" "" "" "" "POLD1(NM_001308632.1):c.2368G>A (p.G790S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727503" "0" "30" "19" "50919967" "50919967" "subst" "0.000516113" "01943" "POLD1_000073" "g.50919967G>A" "" "" "" "POLD1(NM_001256849.1):c.3054G>A (p.V1018=, p.(Val1018=)), POLD1(NM_001308632.1):c.3132G>A (p.V1044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000780185" "0" "10" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780188" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780190" "0" "90" "19" "50905975" "50905975" "subst" "0" "02491" "POLD1_000157" "g.50905975A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000780192" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780194" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780199" "0" "70" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780200" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780201" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780203" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780204" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780206" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780207" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780209" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780210" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000780211" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000782871" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000782872" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000782873" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000782874" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000782875" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02491" "POLD1_000027" "g.50905911G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000789635" "0" "90" "19" "50909738" "50909738" "subst" "0" "04096" "POLD1_000158" "g.50909738G>T" "" "" "" "g.27159G>T" "" "Germline" "" "" "0" "" "" "g.50406481G>T" "" "pathogenic" "ACMG" "0000809004" "0" "30" "19" "50905173" "50905173" "subst" "0.000475815" "02326" "POLD1_000018" "g.50905173C>T" "" "" "" "POLD1(NM_001256849.1):c.455C>T (p.A152V, p.(Ala152Val)), POLD1(NM_001308632.1):c.455C>T (p.A152V), POLD1(NM_002691.4):c.455C>T (p.A152V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809005" "0" "30" "19" "50905586" "50905586" "subst" "0.000198214" "02326" "POLD1_000098" "g.50905586G>A" "" "" "" "POLD1(NM_001256849.1):c.714G>A (p.T238=), POLD1(NM_002691.4):c.714G>A (p.T238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809006" "0" "50" "19" "50905869" "50905869" "subst" "0" "02325" "POLD1_000159" "g.50905869G>T" "" "" "" "POLD1(NM_002691.4):c.841G>T (p.A281S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809007" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02327" "POLD1_000027" "g.50905911G>A" "" "" "" "POLD1(NM_001256849.1):c.883G>A (p.V295M), POLD1(NM_002691.4):c.883G>A (p.V295M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809008" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02326" "POLD1_000027" "g.50905911G>A" "" "" "" "POLD1(NM_001256849.1):c.883G>A (p.V295M), POLD1(NM_002691.4):c.883G>A (p.V295M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809009" "0" "10" "19" "50909471" "50909471" "subst" "0.00179597" "02326" "POLD1_000108" "g.50909471C>T" "" "" "" "POLD1(NM_001256849.1):c.1275C>T (p.(Ala425=), p.A425=), POLD1(NM_001308632.1):c.1275C>T (p.A425=), POLD1(NM_002691.4):c.1275C>T (p.A425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809010" "0" "30" "19" "50909651" "50909651" "subst" "0.000408256" "02369" "POLD1_000160" "g.50909651C>G" "" "" "" "POLD1(NM_001256849.1):c.1384-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809011" "0" "30" "19" "50909714" "50909714" "subst" "0" "02327" "POLD1_000161" "g.50909714C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809012" "0" "30" "19" "50909779" "50909779" "subst" "0.00049613" "02369" "POLD1_000162" "g.50909779C>T" "" "" "" "POLD1(NM_001256849.1):c.1494+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809013" "0" "30" "19" "50916643" "50916644" "delins" "0" "02369" "POLD1_000163" "g.50916643_50916644delinsTT" "" "" "" "POLD1(NM_001256849.1):c.2155-40_2155-39delGCinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809014" "0" "30" "19" "50916685" "50916685" "subst" "0" "02326" "POLD1_000164" "g.50916685C>T" "" "" "" "POLD1(NM_002691.4):c.2157C>T (p.S719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809015" "0" "30" "19" "50917023" "50917023" "subst" "0.00184762" "01943" "POLD1_000059" "g.50917023G>A" "" "" "" "POLD1(NM_001256849.1):c.2275G>A (p.V759I, p.(Val759Ile)), POLD1(NM_001308632.1):c.2353G>A (p.V785I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809016" "0" "50" "19" "50917094" "50917095" "dup" "0" "02325" "POLD1_000165" "g.50917094_50917095dup" "" "" "" "POLD1(NM_002691.4):c.2346_2347dupGT (p.S783Cfs*106)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809017" "0" "50" "19" "50917119" "50917119" "subst" "0" "01943" "POLD1_000166" "g.50917119C>T" "" "" "" "POLD1(NM_001308632.1):c.2449C>T (p.R817W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809018" "0" "50" "19" "50919051" "50919051" "subst" "0" "02325" "POLD1_000167" "g.50919051G>A" "" "" "" "POLD1(NM_002691.4):c.2788G>A (p.A930T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809019" "0" "50" "19" "50919786" "50919786" "subst" "0" "01943" "POLD1_000168" "g.50919786G>A" "" "" "" "POLD1(NM_001308632.1):c.3031+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809020" "0" "30" "19" "50920288" "50920288" "subst" "0.000442834" "02326" "POLD1_000169" "g.50920288C>T" "" "" "" "POLD1(NM_001256849.1):c.3068-14C>T (p.(=)), POLD1(NM_002691.4):c.3068-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809021" "0" "30" "19" "50920535" "50920536" "inv" "0" "02369" "POLD1_000170" "g.50920535_50920536inv" "" "" "" "POLD1(NM_001256849.1):c.3218+9_3218+10delCAinsTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000845101" "0" "50" "19" "50910339" "50910339" "subst" "9.76896E-5" "00006" "POLD1_000172" "g.50910339G>A" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "1594G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50407082G>A" "" "VUS" "" "0000845102" "0" "50" "19" "50905089" "50905089" "subst" "0.000227961" "00006" "POLD1_000091" "g.50905089T>C" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "371T>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50401832T>C" "" "VUS" "" "0000845103" "0" "50" "19" "50905585" "50905585" "subst" "4.95819E-5" "00006" "POLD1_000171" "g.50905585C>T" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "713C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50402328C>T" "" "VUS" "" "0000855676" "0" "10" "19" "50902196" "50902196" "subst" "0.00821459" "02369" "POLD1_000009" "g.50902196C>T" "" "" "" "POLD1(NM_001256849.1):c.88C>T (p.R30W, p.(Arg30Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855677" "0" "50" "19" "50909491" "50909491" "subst" "2.03133E-5" "02327" "POLD1_000175" "g.50909491G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855678" "0" "30" "19" "50912061" "50912061" "subst" "0.000317047" "02330" "POLD1_000178" "g.50912061G>A" "" "" "" "POLD1(NM_001308632.1):c.1873G>A (p.A625T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855679" "0" "30" "19" "50918144" "50918144" "subst" "0" "02330" "POLD1_000180" "g.50918144C>T" "" "" "" "POLD1(NM_001308632.1):c.2539C>T (p.H847Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866246" "0" "30" "19" "50902633" "50902633" "subst" "9.35264E-5" "01943" "POLD1_000173" "g.50902633G>A" "" "" "" "POLD1(NM_001308632.1):c.208G>A (p.V70I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866247" "0" "50" "19" "50905484" "50905484" "subst" "0.000138819" "01804" "POLD1_000174" "g.50905484C>T" "" "" "" "POLD1(NM_001256849.1):c.612C>T (p.(His204=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866248" "0" "10" "19" "50905762" "50905762" "subst" "0.033163" "01804" "POLD1_000025" "g.50905762T>C" "" "" "" "POLD1(NM_001256849.1):c.810T>C (p.A270=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866249" "0" "10" "19" "50909471" "50909471" "subst" "0.00179597" "01804" "POLD1_000108" "g.50909471C>T" "" "" "" "POLD1(NM_001256849.1):c.1275C>T (p.(Ala425=), p.A425=), POLD1(NM_001308632.1):c.1275C>T (p.A425=), POLD1(NM_002691.4):c.1275C>T (p.A425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866250" "0" "50" "19" "50910353" "50910353" "subst" "1.63046E-5" "01804" "POLD1_000176" "g.50910353G>A" "" "" "" "POLD1(NM_001256849.1):c.1608G>A (p.(Ala536=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866251" "0" "50" "19" "50910356" "50910356" "subst" "0" "01804" "POLD1_000177" "g.50910356G>A" "" "" "" "POLD1(NM_001256849.1):c.1611G>A (p.(Arg537=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866252" "0" "50" "19" "50910410" "50910410" "subst" "0.00078748" "01804" "POLD1_000081" "g.50910410C>T" "" "" "" "POLD1(NM_001256849.1):c.1665C>T (p.V555=, p.(Val555=)), POLD1(NM_001308632.1):c.1665C>T (p.V555=), POLD1(NM_002691.4):c.1665C>T (p.V555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866253" "0" "30" "19" "50916713" "50916713" "subst" "0.000147067" "02330" "POLD1_000179" "g.50916713G>A" "" "" "" "POLD1(NM_001308632.1):c.2263G>A (p.E755K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895101" "0" "10" "19" "50905096" "50905096" "subst" "0.00174943" "02326" "POLD1_000092" "g.50905096C>T" "" "" "" "POLD1(NM_001256849.1):c.378C>T (p.R126=), POLD1(NM_001308632.1):c.378C>T (p.R126=), POLD1(NM_002691.4):c.378C>T (p.R126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895102" "0" "30" "19" "50905261" "50905261" "subst" "1.21905E-5" "02330" "POLD1_000181" "g.50905261G>A" "" "" "" "POLD1(NM_001308632.1):c.469G>A (p.G157R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895103" "0" "10" "19" "50905877" "50905877" "subst" "0.00256549" "02326" "POLD1_000026" "g.50905877G>T" "" "" "" "POLD1(NM_001256849.1):c.849G>T (p.Q283H), POLD1(NM_002691.4):c.849G>T (p.Q283H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895104" "0" "50" "19" "50905989" "50905989" "subst" "0.000354227" "02327" "POLD1_000005" "g.50905989G>A" "" "" "" "POLD1(NM_001256849.1):c.961G>A (p.G321S, p.(Gly321Ser)), POLD1(NM_002691.4):c.961G>A (p.G321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895105" "0" "50" "19" "50905989" "50905989" "subst" "0.000354227" "02326" "POLD1_000005" "g.50905989G>A" "" "" "" "POLD1(NM_001256849.1):c.961G>A (p.G321S, p.(Gly321Ser)), POLD1(NM_002691.4):c.961G>A (p.G321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895106" "0" "30" "19" "50906291" "50906291" "subst" "0.000248076" "02326" "POLD1_000102" "g.50906291G>A" "" "" "" "POLD1(NM_001256849.1):c.971-19G>A, POLD1(NM_002691.3):c.971-19G>A (p.(=)), POLD1(NM_002691.4):c.971-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895107" "0" "30" "19" "50910371" "50910371" "subst" "8.58376E-5" "02327" "POLD1_000041" "g.50910371C>T" "" "" "" "POLD1(NM_001256849.1):c.1626C>T (p.P542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895108" "0" "30" "19" "50910410" "50910410" "subst" "0.00078748" "02326" "POLD1_000081" "g.50910410C>T" "" "" "" "POLD1(NM_001256849.1):c.1665C>T (p.V555=, p.(Val555=)), POLD1(NM_001308632.1):c.1665C>T (p.V555=), POLD1(NM_002691.4):c.1665C>T (p.V555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895109" "0" "50" "19" "50912022" "50912022" "subst" "3.27305E-5" "01804" "POLD1_000044" "g.50912022C>T" "" "" "" "POLD1(NM_001256849.1):c.1776-20C>T (p.(=)), POLD1(NM_001308632.1):c.1834C>T (p.R612C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895110" "0" "30" "19" "50912463" "50912463" "subst" "0.00250982" "02326" "POLD1_000047" "g.50912463C>T" "" "" "" "POLD1(NM_001256849.1):c.1977C>T (p.I659=, p.(Ile659=)), POLD1(NM_002691.4):c.1977C>T (p.I659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915282" "0" "10" "19" "50902141" "50902141" "subst" "0.00372145" "02329" "POLD1_000006" "g.50902141C>T" "" "" "" "POLD1(NM_001256849.1):c.33C>T (p.P11=, p.(Pro11=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915283" "0" "10" "19" "50902188" "50902188" "subst" "0.00195191" "02326" "POLD1_000008" "g.50902188A>T" "" "" "" "POLD1(NM_001256849.1):c.80A>T (p.D27V, p.(Asp27Val)), POLD1(NM_002691.4):c.80A>T (p.D27V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915284" "0" "30" "19" "50910248" "50910248" "subst" "0.000786921" "02329" "POLD1_000182" "g.50910248C>T" "" "" "" "POLD1(NM_001256849.1):c.1503C>T (p.N501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915285" "0" "30" "19" "50920512" "50920512" "subst" "0.000369446" "02326" "POLD1_000183" "g.50920512C>T" "" "" "" "POLD1(NM_002691.4):c.3204C>T (p.D1068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921766" "0" "30" "19" "50912821" "50912821" "subst" "0.000440618" "02765" "POLD1_000052" "g.50912821G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.50409564G>C" "" "VUS" "ACMG" "0000926934" "0" "10" "19" "50905089" "50905089" "subst" "0.000227961" "02326" "POLD1_000091" "g.50905089T>C" "" "" "" "POLD1(NM_001256849.1):c.371T>C (p.V124A), POLD1(NM_001308632.1):c.371T>C (p.V124A), POLD1(NM_002691.4):c.371T>C (p.V124A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926935" "0" "50" "19" "50909559" "50909559" "subst" "4.06488E-6" "02325" "POLD1_000184" "g.50909559G>A" "" "" "" "POLD1(NM_002691.4):c.1363G>A (p.V455M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931095" "0" "30" "19" "50905096" "50905096" "subst" "0.00174943" "02329" "POLD1_000092" "g.50905096C>T" "" "" "" "POLD1(NM_001256849.1):c.378C>T (p.R126=), POLD1(NM_001308632.1):c.378C>T (p.R126=), POLD1(NM_002691.4):c.378C>T (p.R126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931096" "0" "30" "19" "50905911" "50905911" "subst" "0.000544821" "02329" "POLD1_000027" "g.50905911G>A" "" "" "" "POLD1(NM_001256849.1):c.883G>A (p.V295M), POLD1(NM_002691.4):c.883G>A (p.V295M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931097" "0" "50" "19" "50906816" "50906816" "subst" "0" "01804" "POLD1_000185" "g.50906816G>T" "" "" "" "POLD1(NM_002691.3):c.1204G>T (p.(Asp402Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931098" "0" "50" "19" "50910261" "50910261" "subst" "4.15908E-6" "01804" "POLD1_000038" "g.50910261C>T" "" "" "" "POLD1(NM_001256849.1):c.1516C>T (p.R506C), POLD1(NM_002691.3):c.1516C>T (p.(Arg506Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931099" "0" "50" "19" "50921185" "50921185" "del" "0" "01804" "POLD1_000186" "g.50921185del" "" "" "" "POLD1(NM_002691.3):c.3305del (p.(Pro1102LeufsTer22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933450" "0" "50" "19" "50905566" "50905566" "subst" "2.47468E-5" "03628" "POLD1_000024" "g.50905566C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50402309C>T" "" "VUS" "ACMG" "0000951339" "0" "50" "19" "50905151" "50905151" "subst" "0.00275527" "01804" "POLD1_000017" "g.50905151G>A" "" "" "" "POLD1(NM_001256849.1):c.433G>A (p.A145T, p.(Ala145Thr)), POLD1(NM_001308632.1):c.433G>A (p.A145T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951340" "0" "30" "19" "50905366" "50905366" "subst" "7.37481E-5" "02329" "POLD1_000094" "g.50905366C>T" "" "" "" "POLD1(NM_001256849.1):c.574C>T (p.L192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951341" "0" "30" "19" "50905432" "50905432" "subst" "0.000403341" "02329" "POLD1_000187" "g.50905432T>C" "" "" "" "POLD1(NM_001256849.1):c.590-30T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951342" "0" "10" "19" "50905655" "50905655" "subst" "0.0262346" "02329" "POLD1_000188" "g.50905655G>A" "" "" "" "POLD1(NM_001256849.1):c.758+25G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951343" "0" "30" "19" "50906306" "50906306" "subst" "0.000357896" "02329" "POLD1_000189" "g.50906306G>A" "" "" "" "POLD1(NM_001256849.1):c.971-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951344" "0" "50" "19" "50910442" "50910442" "subst" "8.46425E-6" "01804" "POLD1_000190" "g.50910442G>A" "" "" "" "POLD1(NM_001256849.1):c.1686+11G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951345" "0" "50" "19" "50912463" "50912463" "subst" "0.00250982" "01804" "POLD1_000047" "g.50912463C>T" "" "" "" "POLD1(NM_001256849.1):c.1977C>T (p.I659=, p.(Ile659=)), POLD1(NM_002691.4):c.1977C>T (p.I659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951346" "0" "50" "19" "50912872" "50912872" "subst" "0.000754683" "01804" "POLD1_000053" "g.50912872C>T" "" "" "" "POLD1(NM_001256849.1):c.2103C>T (p.Y701=, p.(Tyr701=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951347" "0" "30" "19" "50912872" "50912872" "subst" "0.000754683" "02329" "POLD1_000053" "g.50912872C>T" "" "" "" "POLD1(NM_001256849.1):c.2103C>T (p.Y701=, p.(Tyr701=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951348" "0" "30" "19" "50916691" "50916691" "subst" "3.27257E-5" "02329" "POLD1_000191" "g.50916691G>A" "" "" "" "POLD1(NM_001256849.1):c.2163G>A (p.T721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951349" "0" "30" "19" "50918797" "50918797" "subst" "1.23445E-5" "01804" "POLD1_000192" "g.50918797C>T" "" "" "" "POLD1(NM_002691.3):c.2667C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951350" "0" "50" "19" "50919880" "50919880" "subst" "0.00145058" "01804" "POLD1_000070" "g.50919880G>A" "" "" "" "POLD1(NM_001256849.1):c.2967G>A (p.T989=, p.(Thr989=)), POLD1(NM_001308632.1):c.3045G>A (p.T1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951351" "0" "30" "19" "50919967" "50919967" "subst" "0.000516113" "02329" "POLD1_000073" "g.50919967G>A" "" "" "" "POLD1(NM_001256849.1):c.3054G>A (p.V1018=, p.(Val1018=)), POLD1(NM_001308632.1):c.3132G>A (p.V1044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951352" "0" "50" "19" "50921084" "50921089" "dup" "0" "01804" "POLD1_000130" "g.50921084_50921089dup" "" "" "" "POLD1(NM_001256849.1):c.3219-15_3219-10dup (p.(=)), POLD1(NM_001256849.1):c.3219-15_3219-10dupTGCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969864" "0" "30" "19" "50905173" "50905173" "subst" "0.000475815" "02329" "POLD1_000018" "g.50905173C>T" "" "" "" "POLD1(NM_001256849.1):c.455C>T (p.A152V, p.(Ala152Val)), POLD1(NM_001308632.1):c.455C>T (p.A152V), POLD1(NM_002691.4):c.455C>T (p.A152V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969865" "0" "30" "19" "50905913" "50905913" "subst" "0.00019591" "02327" "POLD1_000193" "g.50905913G>C" "" "" "" "POLD1(NM_001256849.1):c.885G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969866" "0" "30" "19" "50906291" "50906291" "subst" "0.000248076" "01804" "POLD1_000102" "g.50906291G>A" "" "" "" "POLD1(NM_001256849.1):c.971-19G>A, POLD1(NM_002691.3):c.971-19G>A (p.(=)), POLD1(NM_002691.4):c.971-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969867" "0" "50" "19" "50910288" "50910288" "subst" "4.07804E-6" "01804" "POLD1_000194" "g.50910288G>A" "" "" "" "POLD1(NM_002691.3):c.1543G>A (p.(Asp515Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969868" "0" "30" "19" "50910610" "50910610" "subst" "0.00391009" "01804" "POLD1_000116" "g.50910610C>T" "" "" "" "POLD1(NM_001256849.1):c.1713C>T (p.P571=, p.(Pro571=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969869" "0" "50" "19" "50918812" "50918812" "subst" "0" "01804" "POLD1_000195" "g.50918812T>C" "" "" "" "POLD1(NM_001256849.1):c.2682T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969871" "0" "50" "19" "50919759" "50919759" "subst" "1.97537E-5" "02327" "POLD1_000196" "g.50919759A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969872" "0" "50" "19" "50920288" "50920288" "subst" "0.000442834" "01804" "POLD1_000169" "g.50920288C>T" "" "" "" "POLD1(NM_001256849.1):c.3068-14C>T (p.(=)), POLD1(NM_002691.4):c.3068-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983613" "0" "30" "19" "50902077" "50902077" "subst" "9.00106E-6" "02329" "POLD1_000197" "g.50902077A>G" "" "" "" "POLD1(NM_001256849.1):c.-4-28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983614" "0" "30" "19" "50902121" "50902121" "subst" "9.43299E-5" "02329" "POLD1_000198" "g.50902121C>T" "" "" "" "POLD1(NM_001256849.1):c.13C>T (p.R5W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983615" "0" "50" "19" "50905042" "50905042" "subst" "0.00252333" "01804" "POLD1_000014" "g.50905042G>T" "" "" "" "POLD1(NM_001256849.1):c.324G>T (p.(Ala108=), p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983616" "0" "30" "19" "50905478" "50905478" "subst" "3.16419E-5" "02329" "POLD1_000199" "g.50905478C>T" "" "" "" "POLD1(NM_001256849.1):c.606C>T (p.H202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983617" "0" "30" "19" "50909425" "50909425" "subst" "4.09608E-5" "02327" "POLD1_000200" "g.50909425C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983618" "0" "30" "19" "50910410" "50910410" "subst" "0.00078748" "02329" "POLD1_000081" "g.50910410C>T" "" "" "" "POLD1(NM_001256849.1):c.1665C>T (p.V555=, p.(Val555=)), POLD1(NM_001308632.1):c.1665C>T (p.V555=), POLD1(NM_002691.4):c.1665C>T (p.V555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983619" "0" "50" "19" "50919892" "50919892" "subst" "0.000210729" "01804" "POLD1_000071" "g.50919892G>A" "" "" "" "POLD1(NM_001256849.1):c.2979G>A (p.T993=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983620" "0" "50" "19" "50919967" "50919967" "subst" "0.000516113" "01804" "POLD1_000073" "g.50919967G>A" "" "" "" "POLD1(NM_001256849.1):c.3054G>A (p.V1018=, p.(Val1018=)), POLD1(NM_001308632.1):c.3132G>A (p.V1044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005039" "0" "10" "19" "50902141" "50902141" "subst" "0.00372145" "01804" "POLD1_000006" "g.50902141C>T" "" "" "" "POLD1(NM_001256849.1):c.33C>T (p.P11=, p.(Pro11=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005040" "0" "10" "19" "50905310" "50905310" "subst" "0.00744085" "02327" "POLD1_000022" "g.50905310G>A" "" "" "" "POLD1(NM_001256849.1):c.518G>A (p.S173N, p.(Ser173Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005041" "0" "30" "19" "50905735" "50905735" "subst" "0" "02326" "POLD1_000201" "g.50905735C>G" "" "" "" "POLD1(NM_002691.4):c.783C>G (p.V261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005042" "0" "70" "19" "50905974" "50905974" "subst" "0" "02327" "POLD1_000202" "g.50905974G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005043" "0" "50" "19" "50905989" "50905989" "subst" "0.000354227" "01804" "POLD1_000005" "g.50905989G>A" "" "" "" "POLD1(NM_001256849.1):c.961G>A (p.G321S, p.(Gly321Ser)), POLD1(NM_002691.4):c.961G>A (p.G321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005044" "0" "50" "19" "50906446" "50906446" "subst" "0" "01804" "POLD1_000203" "g.50906446G>C" "" "" "" "POLD1(NM_002691.3):c.1107G>C (p.(Gln369His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005045" "0" "50" "19" "50906865" "50906865" "subst" "0" "01804" "POLD1_000204" "g.50906865G>T" "" "" "" "POLD1(NM_001256849.1):c.1242+11G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005046" "0" "50" "19" "50912440" "50912440" "subst" "0" "01804" "POLD1_000205" "g.50912440C>T" "" "" "" "POLD1(NM_002691.3):c.1954C>T (p.(Arg652Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005047" "0" "30" "19" "50918268" "50918268" "subst" "1.44354E-5" "02329" "POLD1_000206" "g.50918268C>T" "" "" "" "POLD1(NM_001256849.1):c.2564+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005048" "0" "50" "19" "50918708" "50918708" "subst" "8.20701E-6" "01804" "POLD1_000207" "g.50918708G>A" "" "" "" "POLD1(NM_001256849.1):c.2578G>A (p.(Ala860Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015824" "0" "30" "19" "50905089" "50905089" "subst" "0.000227961" "02329" "POLD1_000091" "g.50905089T>C" "" "" "" "POLD1(NM_001256849.1):c.371T>C (p.V124A), POLD1(NM_001308632.1):c.371T>C (p.V124A), POLD1(NM_002691.4):c.371T>C (p.V124A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015825" "0" "30" "19" "50905439" "50905439" "subst" "9.94665E-5" "02329" "POLD1_000208" "g.50905439G>C" "" "" "" "POLD1(NM_001256849.1):c.590-23G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015826" "0" "30" "19" "50905988" "50905988" "subst" "0" "02327" "POLD1_000209" "g.50905988C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027246" "0" "50" "19" "50887645" "50887645" "subst" "0" "02327" "POLD1_000210" "g.50887645C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027247" "0" "30" "19" "50905010" "50905010" "subst" "0.00064247" "02329" "POLD1_000211" "g.50905010G>A" "" "" "" "POLD1(NM_001256849.1):c.317-25G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027248" "0" "10" "19" "50905151" "50905151" "subst" "0.00275527" "02327" "POLD1_000017" "g.50905151G>A" "" "" "" "POLD1(NM_001256849.1):c.433G>A (p.A145T, p.(Ala145Thr)), POLD1(NM_001308632.1):c.433G>A (p.A145T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027249" "0" "50" "19" "50905355" "50905355" "subst" "8.15721E-6" "01804" "POLD1_000212" "g.50905355T>G" "" "" "" "POLD1(NM_002691.3):c.563T>G (p.(Leu188Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027250" "0" "30" "19" "50905735" "50905735" "subst" "0.000765812" "02329" "POLD1_000213" "g.50905735C>T" "" "" "" "POLD1(NM_001256849.1):c.783C>T (p.V261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027251" "0" "10" "19" "50906785" "50906785" "subst" "0.0067083" "02327" "POLD1_000033" "g.50906785C>T" "" "" "" "POLD1(NM_001256849.1):c.1173C>T (p.D391=, p.(Asp391=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027252" "0" "30" "19" "50909558" "50909558" "subst" "6.09726E-5" "02329" "POLD1_000036" "g.50909558C>T" "" "" "" "POLD1(NM_001256849.1):c.1362C>T (p.R454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027253" "0" "50" "19" "50909579" "50909579" "subst" "0" "02327" "POLD1_000214" "g.50909579G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027254" "0" "50" "19" "50909683" "50909683" "subst" "0" "02329" "POLD1_000215" "g.50909683A>C" "" "" "" "POLD1(NM_001256849.1):c.1403A>C (p.K468T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027255" "0" "50" "19" "50912786" "50912786" "subst" "0.000155288" "02329" "POLD1_000216" "g.50912786G>A" "" "" "" "POLD1(NM_001256849.1):c.2017G>A (p.E673K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027256" "0" "50" "19" "50912816" "50912816" "subst" "0" "02329" "POLD1_000217" "g.50912816C>T" "" "" "" "POLD1(NM_001256849.1):c.2047C>T (p.R683C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027257" "0" "30" "19" "50917085" "50917085" "subst" "0.000172212" "02329" "POLD1_000060" "g.50917085G>A" "" "" "" "POLD1(NM_001256849.1):c.2337G>A (p.A779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027258" "0" "50" "19" "50918153" "50918153" "subst" "0" "01804" "POLD1_000218" "g.50918153A>T" "" "" "" "POLD1(NM_002691.3):c.2470A>T (p.(Met824Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027259" "0" "30" "19" "50918815" "50918815" "subst" "8.26617E-6" "02329" "POLD1_000219" "g.50918815C>T" "" "" "" "POLD1(NM_001256849.1):c.2685C>T (p.A895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027260" "0" "30" "19" "50919799" "50919800" "del" "6.76801E-6" "02329" "POLD1_000068" "g.50919799_50919800del" "" "" "" "POLD1(NM_001256849.1):c.2953+14_2953+15delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027261" "0" "50" "19" "50921231" "50921231" "subst" "0.00422624" "01804" "POLD1_000220" "g.50921231G>A" "" "" "" "POLD1(NM_001256849.1):c.*27G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043127" "0" "50" "19" "50905324" "50905324" "subst" "8.1369E-5" "02329" "POLD1_000221" "g.50905324G>C" "" "" "" "POLD1(NM_001256849.1):c.532G>C (p.G178R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043128" "0" "50" "19" "50905521" "50905521" "subst" "0" "01804" "POLD1_000222" "g.50905521C>G" "" "" "" "POLD1(NM_002691.4):c.649C>G (p.(Pro217Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043129" "0" "30" "19" "50905913" "50905913" "subst" "0.00019591" "01804" "POLD1_000193" "g.50905913G>C" "" "" "" "POLD1(NM_001256849.1):c.885G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043130" "0" "50" "19" "50906306" "50906306" "dup" "0" "01804" "POLD1_000223" "g.50906306dup" "" "" "" "POLD1(NM_002691.3):c.971-4dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043131" "0" "50" "19" "50906822" "50906822" "subst" "0" "01804" "POLD1_000224" "g.50906822C>G" "" "" "" "POLD1(NM_002691.3):c.1210C>G (p.(Pro404Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043132" "0" "50" "19" "50909704" "50909704" "subst" "0" "02329" "POLD1_000225" "g.50909704A>G" "" "" "" "POLD1(NM_001256849.1):c.1424A>G (p.N475S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043133" "0" "50" "19" "50910352" "50910352" "subst" "1.22267E-5" "01804" "POLD1_000226" "g.50910352C>T" "" "" "" "POLD1(NM_002691.4):c.1607C>T (p.(Ala536Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043134" "0" "30" "19" "50917023" "50917023" "subst" "0.00184762" "02327" "POLD1_000059" "g.50917023G>A" "" "" "" "POLD1(NM_001256849.1):c.2275G>A (p.V759I, p.(Val759Ile)), POLD1(NM_001308632.1):c.2353G>A (p.V785I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043135" "0" "50" "19" "50918793" "50918793" "subst" "0" "02327" "POLD1_000227" "g.50918793C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043136" "0" "50" "19" "50918799" "50918799" "subst" "8.64532E-5" "01804" "POLD1_000228" "g.50918799C>T" "" "" "" "POLD1(NM_001256849.1):c.2669C>T (p.(Ala890Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043137" "0" "50" "19" "50918801" "50918801" "subst" "0" "02327" "POLD1_000229" "g.50918801G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043138" "0" "50" "19" "50921258" "50921258" "subst" "0" "01804" "POLD1_000230" "g.50921258C>A" "" "" "" "POLD1(NM_001256849.1):c.*54C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045470" "0" "50" "19" "50918141" "50918141" "subst" "2.47417E-5" "03779" "POLD1_000231" "g.50918141G>A" "" "" "" "" "" "Unknown" "" "rs753609023" "0" "" "" "" "" "VUS" "" "0001046746" "0" "10" "19" "50902659" "50902659" "subst" "0.00838865" "01804" "POLD1_000012" "g.50902659C>G" "" "" "" "POLD1(NM_001256849.1):c.234C>G (p.R78=, p.(Arg78=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046747" "0" "10" "19" "50905042" "50905042" "subst" "0.00252333" "02327" "POLD1_000014" "g.50905042G>T" "" "" "" "POLD1(NM_001256849.1):c.324G>T (p.(Ala108=), p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046748" "0" "10" "19" "50905310" "50905310" "subst" "0.00744085" "01804" "POLD1_000022" "g.50905310G>A" "" "" "" "POLD1(NM_001256849.1):c.518G>A (p.S173N, p.(Ser173Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046749" "0" "50" "19" "50905312" "50905312" "subst" "4.87809E-5" "02327" "POLD1_000232" "g.50905312C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046750" "0" "10" "19" "50906298" "50906298" "subst" "0.00780339" "01804" "POLD1_000028" "g.50906298C>T" "" "" "" "POLD1(NM_001256849.1):c.971-12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046751" "0" "50" "19" "50906446" "50906446" "subst" "0" "02327" "POLD1_000203" "g.50906446G>C" "" "" "" "POLD1(NM_002691.3):c.1107G>C (p.(Gln369His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046752" "0" "10" "19" "50906785" "50906785" "subst" "0.0067083" "01804" "POLD1_000033" "g.50906785C>T" "" "" "" "POLD1(NM_001256849.1):c.1173C>T (p.D391=, p.(Asp391=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046753" "0" "10" "19" "50912126" "50912126" "subst" "0.00846026" "01804" "POLD1_000046" "g.50912126G>A" "" "" "" "POLD1(NM_001256849.1):c.1860G>A (p.T620=, p.(Thr620=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046754" "0" "10" "19" "50918229" "50918229" "subst" "0.00785077" "02327" "POLD1_000061" "g.50918229G>A" "" "" "" "POLD1(NM_001256849.1):c.2546G>A (p.R849H, p.(Arg849His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046755" "0" "10" "19" "50919694" "50919694" "subst" "0.00223172" "01804" "POLD1_000066" "g.50919694G>C" "" "" "" "POLD1(NM_001256849.1):c.2862G>C (p.T954=, p.(Thr954=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046756" "0" "10" "19" "50921078" "50921089" "dup" "0" "01804" "POLD1_000129" "g.50921078_50921089dup" "" "" "" "POLD1(NM_001256849.1):c.3219-21_3219-10dup (p.(=)), POLD1(NM_001256849.1):c.3219-21_3219-10dupTGCCCCTGCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes POLD1 ## Count = 383 "{{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}}" "0000016961" "00001772" "99" "1433" "0" "1433" "0" "c.1433G>A" "r.1433G>A" "p.Ser478Asn" "12" "0000016962" "00001772" "99" "1433" "0" "1433" "0" "c.1433G>A" "r.1433G>A" "p.Ser478Asn" "12" "0000016963" "00001772" "77" "980" "0" "980" "0" "c.980C>T" "r.980C>T" "p.Pro327Leu" "9" "0000066573" "00001772" "70" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Arg507Cys)" "13" "0000066574" "00001772" "70" "1812" "0" "1814" "0" "c.1812_1814del" "r.(?)" "p.(Ser605del)" "15" "0000076968" "00001772" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "8" "0000247557" "00001772" "10" "80" "0" "80" "0" "c.80A>T" "r.(?)" "p.(Asp27Val)" "" "0000247569" "00001772" "30" "1138" "-8" "1138" "-8" "c.1138-8A>G" "r.(=)" "p.(=)" "" "0000247609" "00001772" "10" "2718" "-12" "2718" "-12" "c.2718-12A>G" "r.(=)" "p.(=)" "" "0000247610" "00001772" "10" "3218" "10" "3218" "10" "c.3218+10A>G" "r.(=)" "p.(=)" "" "0000247615" "00001772" "30" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Ile75Val)" "" "0000248341" "00001772" "30" "80" "0" "80" "0" "c.80A>T" "r.(?)" "p.(Asp27Val)" "" "0000249310" "00001772" "30" "1138" "-8" "1138" "-8" "c.1138-8A>G" "r.(=)" "p.(=)" "" "0000250249" "00001772" "30" "80" "0" "80" "0" "c.80A>T" "r.(?)" "p.(Asp27Val)" "" "0000294078" "00001772" "10" "1173" "0" "1173" "0" "c.1173C>T" "r.(?)" "p.(Asp391=)" "" "0000294079" "00001772" "30" "1182" "0" "1182" "0" "c.1182C>T" "r.(?)" "p.(Thr394=)" "" "0000294080" "00001772" "10" "1485" "0" "1485" "0" "c.1485C>T" "r.(?)" "p.(Thr495=)" "" "0000294081" "00001772" "50" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506Cys)" "" "0000294082" "00001772" "10" "1539" "0" "1539" "0" "c.1539G>A" "r.(?)" "p.(Leu513=)" "" "0000294083" "00001772" "10" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(Ala516=)" "" "0000294084" "00001772" "30" "1626" "0" "1626" "0" "c.1626C>T" "r.(?)" "p.(Pro542=)" "" "0000294085" "00001772" "30" "1686" "10" "1686" "10" "c.1686+10C>T" "r.(=)" "p.(=)" "" "0000294086" "00001772" "10" "1761" "0" "1761" "0" "c.1761C>T" "r.(?)" "p.(Ile587=)" "" "0000294087" "00001772" "10" "1860" "0" "1860" "0" "c.1860G>A" "r.(?)" "p.(Thr620=)" "" "0000294088" "00001772" "10" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Ile659=)" "" "0000294089" "00001772" "30" "1995" "0" "1995" "0" "c.1995T>C" "r.(?)" "p.(Ser665=)" "" "0000294090" "00001772" "30" "2006" "17" "2006" "17" "c.2006+17G>A" "r.(=)" "p.(=)" "" "0000294091" "00001772" "10" "2007" "-4" "2007" "-4" "c.2007-4G>A" "r.spl?" "p.?" "" "0000294092" "00001772" "10" "2103" "0" "2103" "0" "c.2103C>T" "r.(?)" "p.(Tyr701=)" "" "0000294093" "00001772" "10" "2244" "0" "2244" "0" "c.2244T>C" "r.(?)" "p.(Ser748=)" "" "0000294094" "00001772" "50" "2250" "5" "2250" "5" "c.2250+5G>C" "r.spl?" "p.?" "" "0000294095" "00001772" "30" "2337" "0" "2337" "0" "c.2337G>A" "r.(?)" "p.(Ala779=)" "" "0000294096" "00001772" "10" "234" "0" "234" "0" "c.234C>G" "r.(?)" "p.(Arg78=)" "" "0000294097" "00001772" "10" "2546" "0" "2546" "0" "c.2546G>A" "r.(?)" "p.(Arg849His)" "" "0000294098" "00001772" "10" "2718" "-5" "2718" "-5" "c.2718-5C>T" "r.spl?" "p.?" "" "0000294099" "00001772" "10" "2862" "0" "2862" "0" "c.2862G>C" "r.(?)" "p.(Thr954=)" "" "0000294100" "00001772" "10" "2953" "12" "2953" "12" "c.2953+12C>T" "r.(=)" "p.(=)" "" "0000294101" "00001772" "10" "2953" "14" "2953" "15" "c.2953+14_2953+15del" "r.(=)" "p.(=)" "" "0000294102" "00001772" "30" "2967" "0" "2967" "0" "c.2967G>A" "r.(?)" "p.(Thr989=)" "" "0000294103" "00001772" "30" "2979" "0" "2979" "0" "c.2979G>A" "r.(?)" "p.(Thr993=)" "" "0000294104" "00001772" "10" "3054" "0" "3054" "0" "c.3054G>A" "r.(?)" "p.(Val1018=)" "" "0000294105" "00001772" "10" "3068" "-8" "3068" "-8" "c.3068-8C>G" "r.(=)" "p.(=)" "" "0000294106" "00001772" "10" "3121" "-19" "3121" "-19" "c.3121-19C>T" "r.(=)" "p.(=)" "" "0000294109" "00001772" "10" "324" "0" "324" "0" "c.324G>A" "r.(?)" "p.(Ala108=)" "" "0000294110" "00001772" "10" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Pro11=)" "" "0000294111" "00001772" "10" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000294112" "00001772" "30" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(His142=)" "" "0000294113" "00001772" "10" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Ala145Thr)" "" "0000294114" "00001772" "10" "463" "8" "463" "8" "c.463+8G>T" "r.(=)" "p.(=)" "" "0000294115" "00001772" "10" "463" "9" "463" "9" "c.463+9C>T" "r.(=)" "p.(=)" "" "0000294116" "00001772" "30" "464" "-12" "464" "-12" "c.464-12C>T" "r.(=)" "p.(=)" "" "0000294117" "00001772" "10" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Ser173Asn)" "" "0000294118" "00001772" "30" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Arg211His)" "" "0000294119" "00001772" "30" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Cys)" "" "0000294120" "00001772" "10" "810" "0" "810" "0" "c.810T>C" "r.(?)" "p.(Ala270=)" "" "0000294121" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000294122" "00001772" "10" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30Trp)" "" "0000294123" "00001772" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "" "0000294124" "00001772" "10" "971" "-12" "971" "-12" "c.971-12C>T" "r.(=)" "p.(=)" "" "0000294125" "00001772" "30" "971" "-5" "971" "-5" "c.971-5C>G" "r.spl?" "p.?" "" "0000297209" "00001772" "30" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Ile659=)" "" "0000297210" "00001772" "30" "2178" "0" "2178" "0" "c.2178G>C" "r.(?)" "p.(Gln726His)" "" "0000297211" "00001772" "30" "2712" "0" "2712" "0" "c.2712C>T" "r.(?)" "p.(Ala904=)" "" "0000298963" "00001772" "30" "1040" "0" "1040" "0" "c.1040C>T" "r.(?)" "p.(Pro347Leu)" "" "0000298964" "00001772" "30" "1137" "10" "1137" "10" "c.1137+10G>A" "r.(=)" "p.(=)" "" "0000298965" "00001772" "10" "1173" "0" "1173" "0" "c.1173C>T" "r.(?)" "p.(Asp391=)" "" "0000298966" "00001772" "30" "1270" "0" "1270" "0" "c.1270G>T" "r.(?)" "p.(Val424Leu)" "" "0000298967" "00001772" "10" "1539" "0" "1539" "0" "c.1539G>A" "r.(?)" "p.(Leu513=)" "" "0000298968" "00001772" "10" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(Ala516=)" "" "0000298969" "00001772" "30" "1776" "-20" "1776" "-20" "c.1776-20C>T" "r.(=)" "p.(=)" "" "0000298970" "00001772" "30" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(Asp595=)" "" "0000298971" "00001772" "10" "1860" "0" "1860" "0" "c.1860G>A" "r.(?)" "p.(Thr620=)" "" "0000298972" "00001772" "10" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Ile659=)" "" "0000298973" "00001772" "30" "2006" "16" "2006" "16" "c.2006+16C>T" "r.(=)" "p.(=)" "" "0000298974" "00001772" "10" "2007" "-4" "2007" "-4" "c.2007-4G>A" "r.spl?" "p.?" "" "0000298975" "00001772" "30" "2052" "0" "2052" "0" "c.2052G>C" "r.(?)" "p.(Gln684His)" "" "0000298976" "00001772" "30" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Val70Phe)" "" "0000298977" "00001772" "30" "2155" "-6" "2155" "-6" "c.2155-6C>T" "r.(=)" "p.(=)" "" "0000298978" "00001772" "30" "2178" "0" "2178" "0" "c.2178G>C" "r.(?)" "p.(Gln726His)" "" "0000298979" "00001772" "30" "2250" "12" "2250" "12" "c.2250+12C>T" "r.(=)" "p.(=)" "" "0000298980" "00001772" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Ile)" "" "0000298981" "00001772" "10" "234" "0" "234" "0" "c.234C>G" "r.(?)" "p.(Arg78=)" "" "0000298982" "00001772" "30" "2546" "0" "2546" "0" "c.2546G>A" "r.(?)" "p.(Arg849His)" "" "0000298983" "00001772" "30" "2763" "0" "2763" "0" "c.2763C>T" "r.(?)" "p.(Arg921=)" "" "0000298984" "00001772" "10" "2862" "0" "2862" "0" "c.2862G>C" "r.(?)" "p.(Thr954=)" "" "0000298985" "00001772" "30" "2954" "-9" "2954" "-9" "c.2954-9C>A" "r.(=)" "p.(=)" "" "0000298986" "00001772" "30" "2967" "0" "2967" "0" "c.2967G>A" "r.(?)" "p.(Thr989=)" "" "0000298987" "00001772" "30" "3067" "19" "3067" "19" "c.3067+19T>C" "r.(=)" "p.(=)" "" "0000298988" "00001772" "30" "3219" "-4" "3219" "-4" "c.3219-4G>A" "r.spl?" "p.?" "" "0000298989" "00001772" "10" "324" "0" "324" "0" "c.324G>T" "r.(?)" "p.(Ala108=)" "" "0000298990" "00001772" "10" "463" "9" "463" "9" "c.463+9C>T" "r.(=)" "p.(=)" "" "0000298991" "00001772" "10" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Ser173Asn)" "" "0000298992" "00001772" "10" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19His)" "" "0000298993" "00001772" "10" "849" "0" "849" "0" "c.849G>T" "r.(?)" "p.(Gln283His)" "" "0000298994" "00001772" "10" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30Trp)" "" "0000298995" "00001772" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "" "0000298996" "00001772" "10" "971" "-12" "971" "-12" "c.971-12C>T" "r.(=)" "p.(=)" "" "0000306058" "00001772" "30" "1362" "0" "1362" "0" "c.1362C>T" "r.(?)" "p.(Arg454=)" "" "0000306059" "00001772" "30" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Ala145Thr)" "" "0000306060" "00001772" "50" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ala152Val)" "" "0000306061" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000326746" "00001772" "50" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ala152Val)" "" "0000326747" "00001772" "50" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Ile)" "" "0000326748" "00001772" "50" "2546" "0" "2546" "0" "c.2546G>A" "r.(?)" "p.(Arg849His)" "" "0000338345" "00001772" "30" "1494" "4" "1494" "4" "c.1494+4C>G" "r.spl?" "p.?" "" "0000340217" "00001772" "10" "1485" "0" "1485" "0" "c.1485C>T" "r.(?)" "p.(Thr495=)" "" "0000340218" "00001772" "30" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Val555=)" "" "0000408625" "00001772" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Cys)" "" "0000568193" "00001772" "30" "-5" "9" "-5" "9" "c.-5+9A>G" "r.(=)" "p.(=)" "" "0000568194" "00001772" "30" "-4" "-16" "-4" "-16" "c.-4-16G>T" "r.(=)" "p.(=)" "" "0000568195" "00001772" "10" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19His)" "" "0000568196" "00001772" "10" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19His)" "" "0000568197" "00001772" "30" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30Trp)" "" "0000568198" "00001772" "50" "104" "0" "104" "0" "c.104A>T" "r.(?)" "p.(Glu35Val)" "" "0000568199" "00001772" "30" "203" "-7" "203" "-6" "c.203-7_203-6dup" "r.(=)" "p.(=)" "" "0000568200" "00001772" "50" "265" "0" "268" "0" "c.265_268del" "r.(?)" "p.(Pro89ArgfsTer79)" "" "0000568202" "00001772" "30" "344" "0" "344" "0" "c.344C>A" "r.(?)" "p.(Pro115His)" "" "0000568203" "00001772" "30" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Val124Ala)" "" "0000568204" "00001772" "30" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Val124Ala)" "" "0000568205" "00001772" "30" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Arg126=)" "" "0000568206" "00001772" "30" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ala152Val)" "" "0000568207" "00001772" "30" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "" "0000568208" "00001772" "30" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Leu192=)" "" "0000568209" "00001772" "50" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195Ter)" "" "0000568210" "00001772" "50" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Cys)" "" "0000568211" "00001772" "50" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225His)" "" "0000568212" "00001772" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Thr238=)" "" "0000568213" "00001772" "30" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000568214" "00001772" "30" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(Cys319=)" "" "0000568215" "00001772" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "" "0000568216" "00001772" "10" "970" "28" "970" "28" "c.970+28C>T" "r.(=)" "p.(=)" "" "0000568217" "00001772" "10" "971" "-19" "971" "-19" "c.971-19G>A" "r.(=)" "p.(=)" "" "0000568218" "00001772" "30" "1041" "0" "1041" "0" "c.1041G>A" "r.(?)" "p.(Pro347=)" "" "0000568219" "00001772" "10" "1137" "53" "1137" "53" "c.1137+53G>A" "r.(=)" "p.(=)" "" "0000568220" "00001772" "30" "1138" "-8" "1138" "-8" "c.1138-8A>G" "r.(=)" "p.(=)" "" "0000568221" "00001772" "30" "1243" "-43" "1243" "-43" "c.1243-43C>T" "r.(=)" "p.(=)" "" "0000568222" "00001772" "10" "1243" "-34" "1243" "-34" "c.1243-34G>A" "r.(=)" "p.(=)" "" "0000568223" "00001772" "30" "1243" "-7" "1243" "-7" "c.1243-7T>A" "r.(=)" "p.(=)" "" "0000568224" "00001772" "10" "1275" "0" "1275" "0" "c.1275C>T" "r.(?)" "p.(Ala425=)" "" "0000568225" "00001772" "10" "1275" "0" "1275" "0" "c.1275C>T" "r.(?)" "p.(Ala425=)" "" "0000568226" "00001772" "30" "1384" "-19" "1384" "-12" "c.1384-19_1384-12del" "r.(=)" "p.(=)" "" "0000568227" "00001772" "50" "1429" "0" "1429" "0" "c.1429G>A" "r.(?)" "p.(Val477Met)" "" "0000568228" "00001772" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Asp488=)" "" "0000568229" "00001772" "50" "1495" "-2" "1495" "-2" "c.1495-2A>G" "r.spl?" "p.?" "" "0000568230" "00001772" "10" "1539" "0" "1539" "0" "c.1539G>A" "r.(?)" "p.(Leu513=)" "" "0000568231" "00001772" "10" "1539" "0" "1539" "0" "c.1539G>A" "r.(?)" "p.(Leu513=)" "" "0000568232" "00001772" "50" "1543" "0" "1543" "0" "c.1543G>T" "r.(?)" "p.(Asp515Tyr)" "" "0000568233" "00001772" "10" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(Ala516=)" "" "0000568234" "00001772" "10" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(Ala516=)" "" "0000568235" "00001772" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Gly540=)" "" "0000568236" "00001772" "50" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Gly540=)" "" "0000568237" "00001772" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Gly540=)" "" "0000568238" "00001772" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Gly540=)" "" "0000568239" "00001772" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Gly540=)" "" "0000568240" "00001772" "30" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Val555=)" "" "0000568241" "00001772" "30" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Glu566Lys)" "" "0000568242" "00001772" "10" "1713" "0" "1713" "0" "c.1713C>T" "r.(?)" "p.(Pro571=)" "" "0000568243" "00001772" "30" "1893" "-15" "1893" "-15" "c.1893-15C>T" "r.(=)" "p.(=)" "" "0000568244" "00001772" "30" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "" "0000568245" "00001772" "50" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "" "0000568246" "00001772" "10" "2154" "13" "2154" "14" "c.2154+13_2154+14insA" "r.(=)" "p.(=)" "" "0000568247" "00001772" "30" "2234" "0" "2234" "0" "c.2234A>T" "r.(?)" "p.(Tyr745Phe)" "" "0000568248" "00001772" "10" "2244" "0" "2244" "0" "c.2244T>C" "r.(?)" "p.(Ser748=)" "" "0000568249" "00001772" "30" "2376" "0" "2376" "0" "c.2376G>A" "r.(?)" "p.(Leu792=)" "" "0000568250" "00001772" "30" "2388" "5" "2388" "5" "c.2388+5G>A" "r.spl?" "p.?" "" "0000568251" "00001772" "30" "2517" "0" "2517" "0" "c.2517C>T" "r.(?)" "p.(Leu839=)" "" "0000568252" "00001772" "50" "2518" "0" "2518" "0" "c.2518G>A" "r.(?)" "p.(Val840Met)" "" "0000568254" "00001772" "30" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Ile)" "" "0000568255" "00001772" "30" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Ile)" "" "0000568256" "00001772" "30" "2967" "0" "2967" "0" "c.2967G>A" "r.(?)" "p.(Thr989=)" "" "0000568257" "00001772" "10" "3121" "-19" "3121" "-19" "c.3121-19C>T" "r.(=)" "p.(=)" "" "0000568258" "00001772" "30" "3121" "-15" "3121" "-15" "c.3121-15C>T" "r.(=)" "p.(=)" "" "0000568259" "00001772" "10" "3218" "9" "3218" "9" "c.3218+9C>T" "r.(=)" "p.(=)" "" "0000568260" "00001772" "10" "3218" "10" "3218" "10" "c.3218+10A>G" "r.(=)" "p.(=)" "" "0000568261" "00001772" "10" "3219" "-21" "3219" "-10" "c.3219-21_3219-10dup" "r.(=)" "p.(=)" "" "0000568262" "00001772" "10" "3219" "-15" "3219" "-10" "c.3219-15_3219-10dup" "r.(=)" "p.(=)" "" "0000580090" "00001772" "70" "414" "0" "414" "0" "c.414dup" "r.(?)" "p.(Cys139Leufs*25)" "" "0000595581" "00001772" "50" "2581" "0" "2581" "0" "c.2581G>A" "r.(?)" "p.(Val861Met)" "" "0000595586" "00001772" "50" "1040" "0" "1040" "0" "c.1040C>T" "r.(?)" "p.(Pro347Leu)" "" "0000595745" "00001772" "50" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Ala810Val)" "" "0000597828" "00001772" "70" "589" "0" "589" "1" "c.589_589+1del" "r.spl?" "p.(Ser197Hisfs*54)" "" "0000597829" "00001772" "70" "3298" "0" "3298" "0" "c.3298G>A" "r.(?)" "p.(Gly1100Arg)" "" "0000617828" "00001772" "50" "267" "0" "268" "0" "c.267_268insATT" "r.(?)" "p.(Pro89_Gln90insIle)" "" "0000617829" "00001772" "30" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Arg126=)" "" "0000617830" "00001772" "30" "778" "0" "778" "0" "c.778A>G" "r.(?)" "p.(Ile260Val)" "" "0000617831" "00001772" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Met)" "" "0000617832" "00001772" "30" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Tyr545=)" "" "0000617833" "00001772" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Ile)" "" "0000617834" "00001772" "50" "2388" "5" "2388" "5" "c.2388+5G>A" "r.spl?" "p.?" "" "0000617835" "00001772" "10" "2628" "0" "2628" "0" "c.2628C>T" "r.(?)" "p.(Ile876=)" "" "0000617836" "00001772" "50" "2954" "0" "2954" "0" "c.2954G>C" "r.(?)" "p.(Arg985Pro)" "" "0000617837" "00001772" "10" "3218" "9" "3218" "9" "c.3218+9C>T" "r.(=)" "p.(=)" "" "0000624068" "00001772" "30" "202" "3" "202" "3" "c.202+3A>G" "r.spl?" "p.?" "" "0000624069" "00001772" "10" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Ala145Thr)" "" "0000624070" "00001772" "30" "1955" "0" "1955" "0" "c.1955G>A" "r.(?)" "p.(Arg652Gln)" "" "0000624071" "00001772" "50" "2861" "0" "2861" "0" "c.2861C>T" "r.(?)" "p.(Thr954Met)" "" "0000624072" "00001772" "30" "2910" "0" "2910" "0" "c.2910C>T" "r.(?)" "p.(Phe970=)" "" "0000624073" "00001772" "30" "3062" "0" "3062" "0" "c.3062A>C" "r.(?)" "p.(His1021Pro)" "" "0000650044" "00001772" "10" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30Trp)" "" "0000650045" "00001772" "50" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Ile)" "" "0000650046" "00001772" "10" "2546" "0" "2546" "0" "c.2546G>A" "r.(?)" "p.(Arg849His)" "" "0000658646" "00001772" "30" "1138" "-8" "1138" "-8" "c.1138-8A>G" "r.(=)" "p.(=)" "" "0000658647" "00001772" "50" "1157" "0" "1157" "0" "c.1157G>C" "r.(?)" "p.(Arg386Pro)" "" "0000658648" "00001772" "50" "1776" "-20" "1776" "-20" "c.1776-20C>T" "r.(=)" "p.(=)" "" "0000658649" "00001772" "30" "2007" "-5" "2007" "-5" "c.2007-5C>T" "r.spl?" "p.?" "" "0000658650" "00001772" "30" "2052" "0" "2052" "0" "c.2052G>C" "r.(?)" "p.(Gln684His)" "" "0000658651" "00001772" "50" "2290" "0" "2290" "0" "c.2290G>A" "r.(?)" "p.(Gly764Ser)" "" "0000669493" "00001772" "10" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30Trp)" "" "0000681493" "00001772" "50" "80" "0" "80" "0" "c.80A>T" "r.(?)" "p.(Asp27Val)" "" "0000681494" "00001772" "30" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Val555=)" "" "0000681495" "00001772" "30" "1776" "-75" "1776" "-75" "c.1776-75G>A" "r.(=)" "p.(=)" "" "0000681496" "00001772" "50" "2633" "0" "2633" "0" "c.2633T>C" "r.(?)" "p.(Ile878Thr)" "" "0000681497" "00001772" "30" "3136" "0" "3136" "0" "c.3136G>T" "r.(?)" "p.(Ala1046Ser)" "" "0000692873" "00001772" "50" "955" "0" "955" "0" "c.955T>G" "r.(?)" "p.(Cys319Gly)" "" "0000692874" "00001772" "30" "1138" "-8" "1138" "-8" "c.1138-8A>G" "r.(=)" "p.(=)" "" "0000692875" "00001772" "10" "1275" "0" "1275" "0" "c.1275C>T" "r.(?)" "p.(Ala425=)" "" "0000692876" "00001772" "50" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Ala810Val)" "" "0000727498" "00001772" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Met)" "" "0000727499" "00001772" "10" "849" "0" "849" "0" "c.849G>T" "r.(?)" "p.(Gln283His)" "" "0000727500" "00001772" "30" "1494" "30" "1494" "30" "c.1494+30C>T" "r.(=)" "p.(=)" "" "0000727501" "00001772" "50" "1927" "0" "1927" "0" "c.1927G>T" "r.(?)" "p.(Gly643Trp)" "" "0000727502" "00001772" "30" "2290" "0" "2290" "0" "c.2290G>A" "r.(?)" "p.(Gly764Ser)" "" "0000727503" "00001772" "30" "3054" "0" "3054" "0" "c.3054G>A" "r.(?)" "p.(Val1018=)" "" "0000780185" "00001772" "10" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780188" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780190" "00001772" "90" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Asp316Gly)" "" "0000780192" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780194" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780199" "00001772" "70" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780200" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780201" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780203" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780204" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780206" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780207" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780209" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780210" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000780211" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000782871" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000782872" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000782873" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000782874" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000782875" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000789635" "00001772" "90" "1458" "0" "1458" "0" "c.1458G>T" "r.(1458g>u)" "p.(Lys486Asn)" "12" "0000809004" "00001772" "30" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ala152Val)" "" "0000809005" "00001772" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Thr238=)" "" "0000809006" "00001772" "50" "841" "0" "841" "0" "c.841G>T" "r.(?)" "p.(Ala281Ser)" "" "0000809007" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000809008" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000809009" "00001772" "10" "1275" "0" "1275" "0" "c.1275C>T" "r.(?)" "p.(Ala425=)" "" "0000809010" "00001772" "30" "1384" "-13" "1384" "-13" "c.1384-13C>G" "r.(=)" "p.(=)" "" "0000809011" "00001772" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(Ser478=)" "" "0000809012" "00001772" "30" "1494" "5" "1494" "5" "c.1494+5C>T" "r.spl?" "p.?" "" "0000809013" "00001772" "30" "2155" "-40" "2155" "-39" "c.2155-40_2155-39delinsTT" "r.(=)" "p.(=)" "" "0000809014" "00001772" "30" "2157" "0" "2157" "0" "c.2157C>T" "r.(?)" "p.(Ser719=)" "" "0000809015" "00001772" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Ile)" "" "0000809016" "00001772" "50" "2346" "0" "2347" "0" "c.2346_2347dup" "r.(?)" "p.(Ser783Cysfs*106)" "" "0000809017" "00001772" "50" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791Trp)" "" "0000809018" "00001772" "50" "2788" "0" "2788" "0" "c.2788G>A" "r.(?)" "p.(Ala930Thr)" "" "0000809019" "00001772" "50" "2953" "1" "2953" "1" "c.2953+1G>A" "r.spl?" "p.?" "" "0000809020" "00001772" "30" "3068" "-14" "3068" "-14" "c.3068-14C>T" "r.(=)" "p.(=)" "" "0000809021" "00001772" "30" "3218" "9" "3218" "10" "c.3218+9_3218+10inv" "r.(=)" "p.(=)" "" "0000845101" "00001772" "90" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Ala532Thr)" "" "0000845102" "00001772" "90" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Val124Ala)" "" "0000845103" "00001772" "90" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Thr238Met)" "" "0000855676" "00001772" "10" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30Trp)" "" "0000855677" "00001772" "50" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Arg432Gln)" "" "0000855678" "00001772" "30" "1795" "0" "1795" "0" "c.1795G>A" "r.(?)" "p.(Ala599Thr)" "" "0000855679" "00001772" "30" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(His821Tyr)" "" "0000866246" "00001772" "30" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Val70Ile)" "" "0000866247" "00001772" "50" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(His204=)" "" "0000866248" "00001772" "10" "810" "0" "810" "0" "c.810T>C" "r.(?)" "p.(Ala270=)" "" "0000866249" "00001772" "10" "1275" "0" "1275" "0" "c.1275C>T" "r.(?)" "p.(Ala425=)" "" "0000866250" "00001772" "50" "1608" "0" "1608" "0" "c.1608G>A" "r.(?)" "p.(Ala536=)" "" "0000866251" "00001772" "50" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Arg537=)" "" "0000866252" "00001772" "50" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Val555=)" "" "0000866253" "00001772" "30" "2185" "0" "2185" "0" "c.2185G>A" "r.(?)" "p.(Glu729Lys)" "" "0000895101" "00001772" "10" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Arg126=)" "" "0000895102" "00001772" "30" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Gly157Arg)" "" "0000895103" "00001772" "10" "849" "0" "849" "0" "c.849G>T" "r.(?)" "p.(Gln283His)" "" "0000895104" "00001772" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "" "0000895105" "00001772" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "" "0000895106" "00001772" "30" "971" "-19" "971" "-19" "c.971-19G>A" "r.(=)" "p.(=)" "" "0000895107" "00001772" "30" "1626" "0" "1626" "0" "c.1626C>T" "r.(?)" "p.(Pro542=)" "" "0000895108" "00001772" "30" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Val555=)" "" "0000895109" "00001772" "50" "1776" "-20" "1776" "-20" "c.1776-20C>T" "r.(=)" "p.(=)" "" "0000895110" "00001772" "30" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Ile659=)" "" "0000915282" "00001772" "10" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Pro11=)" "" "0000915283" "00001772" "10" "80" "0" "80" "0" "c.80A>T" "r.(?)" "p.(Asp27Val)" "" "0000915284" "00001772" "30" "1503" "0" "1503" "0" "c.1503C>T" "r.(?)" "p.(Asn501=)" "" "0000915285" "00001772" "30" "3204" "0" "3204" "0" "c.3204C>T" "r.(?)" "p.(Asp1068=)" "" "0000921766" "00001772" "30" "2052" "0" "2052" "0" "c.2052G>C" "r.(?)" "p.(Gln684His)" "17" "0000926934" "00001772" "10" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Val124Ala)" "" "0000926935" "00001772" "50" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Val455Met)" "" "0000931095" "00001772" "30" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Arg126=)" "" "0000931096" "00001772" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000931097" "00001772" "50" "1204" "0" "1204" "0" "c.1204G>T" "r.(?)" "p.(Asp402Tyr)" "" "0000931098" "00001772" "50" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506Cys)" "" "0000931099" "00001772" "50" "3305" "0" "3305" "0" "c.3305del" "r.(?)" "p.(Pro1102Leufs*22)" "" "0000933450" "00001772" "50" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Cys)" "" "0000951339" "00001772" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Ala145Thr)" "" "0000951340" "00001772" "30" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Leu192=)" "" "0000951341" "00001772" "30" "590" "-30" "590" "-30" "c.590-30T>C" "r.(=)" "p.(=)" "" "0000951342" "00001772" "10" "758" "25" "758" "25" "c.758+25G>A" "r.(=)" "p.(=)" "" "0000951343" "00001772" "30" "971" "-4" "971" "-4" "c.971-4G>A" "r.spl?" "p.?" "" "0000951344" "00001772" "50" "1686" "11" "1686" "11" "c.1686+11G>A" "r.(=)" "p.(=)" "" "0000951345" "00001772" "50" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Ile659=)" "" "0000951346" "00001772" "50" "2103" "0" "2103" "0" "c.2103C>T" "r.(?)" "p.(Tyr701=)" "" "0000951347" "00001772" "30" "2103" "0" "2103" "0" "c.2103C>T" "r.(?)" "p.(Tyr701=)" "" "0000951348" "00001772" "30" "2163" "0" "2163" "0" "c.2163G>A" "r.(?)" "p.(Thr721=)" "" "0000951349" "00001772" "30" "2667" "0" "2667" "0" "c.2667C>T" "r.(?)" "p.(Arg889=)" "" "0000951350" "00001772" "50" "2967" "0" "2967" "0" "c.2967G>A" "r.(?)" "p.(Thr989=)" "" "0000951351" "00001772" "30" "3054" "0" "3054" "0" "c.3054G>A" "r.(?)" "p.(Val1018=)" "" "0000951352" "00001772" "50" "3219" "-15" "3219" "-10" "c.3219-15_3219-10dup" "r.(=)" "p.(=)" "" "0000969864" "00001772" "30" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ala152Val)" "" "0000969865" "00001772" "30" "885" "0" "885" "0" "c.885G>C" "r.(?)" "p.(Val295=)" "" "0000969866" "00001772" "30" "971" "-19" "971" "-19" "c.971-19G>A" "r.(=)" "p.(=)" "" "0000969867" "00001772" "50" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Asp515Asn)" "" "0000969868" "00001772" "30" "1713" "0" "1713" "0" "c.1713C>T" "r.(?)" "p.(Pro571=)" "" "0000969869" "00001772" "50" "2682" "0" "2682" "0" "c.2682T>C" "r.(?)" "p.(Tyr894=)" "" "0000969871" "00001772" "50" "2927" "0" "2927" "0" "c.2927A>T" "r.(?)" "p.(Glu976Val)" "" "0000969872" "00001772" "50" "3068" "-14" "3068" "-14" "c.3068-14C>T" "r.(=)" "p.(=)" "" "0000983613" "00001772" "30" "-4" "-28" "-4" "-28" "c.-4-28A>G" "r.(=)" "p.(=)" "" "0000983614" "00001772" "30" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Arg5Trp)" "" "0000983615" "00001772" "50" "324" "0" "324" "0" "c.324G>T" "r.(?)" "p.(Ala108=)" "" "0000983616" "00001772" "30" "606" "0" "606" "0" "c.606C>T" "r.(?)" "p.(His202=)" "" "0000983617" "00001772" "30" "1243" "-14" "1243" "-14" "c.1243-14C>G" "r.(=)" "p.(=)" "" "0000983618" "00001772" "30" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Val555=)" "" "0000983619" "00001772" "50" "2979" "0" "2979" "0" "c.2979G>A" "r.(?)" "p.(Thr993=)" "" "0000983620" "00001772" "50" "3054" "0" "3054" "0" "c.3054G>A" "r.(?)" "p.(Val1018=)" "" "0001005039" "00001772" "10" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Pro11=)" "" "0001005040" "00001772" "10" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Ser173Asn)" "" "0001005041" "00001772" "30" "783" "0" "783" "0" "c.783C>G" "r.(?)" "p.(Val261=)" "" "0001005042" "00001772" "70" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Asp316Asn)" "" "0001005043" "00001772" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Ser)" "" "0001005044" "00001772" "50" "1107" "0" "1107" "0" "c.1107G>C" "r.(?)" "p.(Gln369His)" "" "0001005045" "00001772" "50" "1242" "11" "1242" "11" "c.1242+11G>T" "r.(=)" "p.(=)" "" "0001005046" "00001772" "50" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652Trp)" "" "0001005047" "00001772" "30" "2564" "21" "2564" "21" "c.2564+21C>T" "r.(=)" "p.(=)" "" "0001005048" "00001772" "50" "2578" "0" "2578" "0" "c.2578G>A" "r.(?)" "p.(Ala860Thr)" "" "0001015824" "00001772" "30" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Val124Ala)" "" "0001015825" "00001772" "30" "590" "-23" "590" "-23" "c.590-23G>C" "r.(=)" "p.(=)" "" "0001015826" "00001772" "30" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Ala320=)" "" "0001027246" "00001772" "50" "-7" "0" "-7" "0" "c.-7C>G" "r.(?)" "p.(=)" "" "0001027247" "00001772" "30" "317" "-25" "317" "-25" "c.317-25G>A" "r.(=)" "p.(=)" "" "0001027248" "00001772" "10" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Ala145Thr)" "" "0001027249" "00001772" "50" "563" "0" "563" "0" "c.563T>G" "r.(?)" "p.(Leu188Arg)" "" "0001027250" "00001772" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(Val261=)" "" "0001027251" "00001772" "10" "1173" "0" "1173" "0" "c.1173C>T" "r.(?)" "p.(Asp391=)" "" "0001027252" "00001772" "30" "1362" "0" "1362" "0" "c.1362C>T" "r.(?)" "p.(Arg454=)" "" "0001027253" "00001772" "50" "1383" "0" "1383" "0" "c.1383G>C" "r.(?)" "p.(Gln461His)" "" "0001027254" "00001772" "50" "1403" "0" "1403" "0" "c.1403A>C" "r.(?)" "p.(Lys468Thr)" "" "0001027255" "00001772" "50" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Glu673Lys)" "" "0001027256" "00001772" "50" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Cys)" "" "0001027257" "00001772" "30" "2337" "0" "2337" "0" "c.2337G>A" "r.(?)" "p.(Ala779=)" "" "0001027258" "00001772" "50" "2470" "0" "2470" "0" "c.2470A>T" "r.(?)" "p.(Met824Leu)" "" "0001027259" "00001772" "30" "2685" "0" "2685" "0" "c.2685C>T" "r.(?)" "p.(Ala895=)" "" "0001027260" "00001772" "30" "2953" "14" "2953" "15" "c.2953+14_2953+15del" "r.(=)" "p.(=)" "" "0001027261" "00001772" "50" "3351" "0" "3351" "0" "c.*27G>A" "r.(=)" "p.(=)" "" "0001043127" "00001772" "50" "532" "0" "532" "0" "c.532G>C" "r.(?)" "p.(Gly178Arg)" "" "0001043128" "00001772" "50" "649" "0" "649" "0" "c.649C>G" "r.(?)" "p.(Pro217Ala)" "" "0001043129" "00001772" "30" "885" "0" "885" "0" "c.885G>C" "r.(?)" "p.(Val295=)" "" "0001043130" "00001772" "50" "971" "-4" "971" "-4" "c.971-4dup" "r.spl?" "p.?" "" "0001043131" "00001772" "50" "1210" "0" "1210" "0" "c.1210C>G" "r.(?)" "p.(Pro404Ala)" "" "0001043132" "00001772" "50" "1424" "0" "1424" "0" "c.1424A>G" "r.(?)" "p.(Asn475Ser)" "" "0001043133" "00001772" "50" "1607" "0" "1607" "0" "c.1607C>T" "r.(?)" "p.(Ala536Val)" "" "0001043134" "00001772" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Ile)" "" "0001043135" "00001772" "50" "2663" "0" "2663" "0" "c.2663C>A" "r.(?)" "p.(Thr888Asn)" "" "0001043136" "00001772" "50" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Ala890Val)" "" "0001043137" "00001772" "50" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Ala891Thr)" "" "0001043138" "00001772" "50" "3378" "0" "3378" "0" "c.*54C>A" "r.(=)" "p.(=)" "" "0001045470" "00001772" "50" "2458" "0" "2458" "0" "c.2458G>A" "r.(?)" "p.(Ala820Thr)" "" "0001046746" "00001772" "10" "234" "0" "234" "0" "c.234C>G" "r.(?)" "p.(Arg78=)" "" "0001046747" "00001772" "10" "324" "0" "324" "0" "c.324G>T" "r.(?)" "p.(Ala108=)" "" "0001046748" "00001772" "10" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Ser173Asn)" "" "0001046749" "00001772" "50" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Trp)" "" "0001046750" "00001772" "10" "971" "-12" "971" "-12" "c.971-12C>T" "r.(=)" "p.(=)" "" "0001046751" "00001772" "50" "1107" "0" "1107" "0" "c.1107G>C" "r.(?)" "p.(Gln369His)" "" "0001046752" "00001772" "10" "1173" "0" "1173" "0" "c.1173C>T" "r.(?)" "p.(Asp391=)" "" "0001046753" "00001772" "10" "1860" "0" "1860" "0" "c.1860G>A" "r.(?)" "p.(Thr620=)" "" "0001046754" "00001772" "10" "2546" "0" "2546" "0" "c.2546G>A" "r.(?)" "p.(Arg849His)" "" "0001046755" "00001772" "10" "2862" "0" "2862" "0" "c.2862G>C" "r.(?)" "p.(Thr954=)" "" "0001046756" "00001772" "10" "3219" "-21" "3219" "-10" "c.3219-21_3219-10dup" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000000372" "0000016961" "0000000373" "0000016962" "0000000374" "0000016963" "0000038815" "0000066573" "0000038815" "0000066574" "0000048147" "0000076968" "0000184508" "0000408625" "0000247243" "0000580090" "0000265004" "0000595581" "0000265008" "0000595586" "0000265165" "0000595745" "0000266983" "0000597828" "0000266983" "0000597829" "0000293355" "0000650044" "0000293356" "0000650045" "0000293357" "0000650046" "0000305805" "0000669493" "0000372898" "0000780185" "0000372901" "0000780188" "0000372901" "0000780190" "0000372904" "0000780192" "0000372905" "0000780194" "0000372907" "0000780199" "0000372908" "0000780200" "0000372909" "0000780201" "0000372910" "0000780203" "0000372911" "0000780204" "0000372913" "0000780206" "0000372914" "0000780207" "0000372915" "0000780209" "0000372916" "0000780210" "0000372917" "0000780211" "0000372918" "0000782871" "0000372919" "0000782872" "0000372920" "0000782873" "0000372921" "0000782874" "0000372922" "0000782875" "0000377326" "0000789635" "0000408224" "0000845101" "0000408225" "0000845102" "0000408226" "0000845103" "0000435615" "0000921766" "0000437964" "0000933450"