### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTEN) # 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}}" "PTEN" "phosphatase and tensin homolog" "10" "q23" "unknown" "LRG_311" "UD_130735387963" "" "https://www.LOVD.nl/PTEN" "" "1" "9588" "5728" "601728" "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/PTEN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-26 15:11:56" "00000" "2025-11-01 13:22:20" ## 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}}" "00017092" "PTEN" "phosphatase and tensin homolog" "001" "NM_000314.4" "" "NP_000305.3" "" "" "" "-1032" "4515" "1212" "89623195" "89728532" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00423" "-" "cancer, endometrial" "AD;SMu" "608089" "" "" "" "00006" "2014-06-18 09:01:15" "00006" "2021-12-10 21:51:32" "00424" "cancer, ovarian" "cancer, ovarian" "" "167000" "" "" "" "00006" "2014-06-18 09:01:54" "" "" "00554" "NMTC2" "cancer, thyroid, nonmedullary, type 2 (NMTC-2, follicular)" "AD;SMu" "188470" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00598" "-" "cancer, cervical, somatic" "" "603956" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01420" "BRRS" "Bannayan-Riley-Ruvalcaba syndrome (BRRS)" "" "153480" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-02-15 23:25:54" "01431" "CMM1" "melanoma, cutaneous, malignant, susceptibility to, type 1 (CMM-1)" "" "155600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01445" "CWS1" "Cowden syndrome, type 1 (CWS1)" "AD" "158350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01515" "JPS" "polyposis syndrome, juvenile (JPS)" "AD" "174900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01524" "cancer, prostate" "cancer, prostate" "AD;SMu" "176807" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02107" "HNSCC" "carcinoma, squamous cell, head and neck (HNSCC)" "AR" "275355" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02540" "-" "macrocephaly/autism syndrome" "AD" "605309" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02638" "meningioma" "meningioma, familial, susceptibility to" "AD" "607174" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-26 15:18:15" "03233" "GLM2" "glioma, susceptibility, type 2 (GLM-2)" "" "613028" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04148" "BROVCA" "cancer, breast-ovarian, familial, susceptibility to" "" "" "" "" "" "00006" "2014-11-02 11:19:07" "00006" "2017-08-28 21:33:05" "04280" "FAP" "adenomatous polyposis, familial (FAP)" "" "" "" "" "" "00006" "2015-06-06 23:26:41" "" "" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "04632" "VATERLH" "VATERL association with hydrocephalus (VACTERL-H)" "" "276950" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05535" "macrocephaly" "macrocephaly" "IC" "" "" "" "" "00006" "2018-12-22 14:33:20" "00006" "2021-12-10 21:51:32" "05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43" "06990" "CWS" "Cowden syndrome" "" "" "" "" "" "00006" "2022-12-28 15:18:22" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{geneid}}" "{{diseaseid}}" "PTEN" "00423" "PTEN" "00554" "PTEN" "01420" "PTEN" "01431" "PTEN" "01445" "PTEN" "01524" "PTEN" "02107" "PTEN" "02540" "PTEN" "02638" "PTEN" "03233" "PTEN" "04632" ## Individuals ## Do not remove or alter this header ## ## Count = 749 "{{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}}" "00003279" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" "" "00036618" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036619" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036620" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036621" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036622" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036623" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036624" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036625" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036626" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036627" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036628" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00046298" "" "" "" "1" "" "01339" "" "1 breast-ovarian cancer families (kConFab)" "" "" "Australia;New Zealand" "" "0" "" "" "" "" "00046299" "" "" "" "1" "" "01339" "" "1 breast-ovarian cancer families (kConFab)" "" "" "Australia;New Zealand" "" "0" "" "" "" "" "00047328" "" "" "" "1" "" "00727" "{PMID:Plon 2008:18669439}" "" "F" "" "(United States)" "" "0" "" "" "" "" "00047329" "" "" "" "1" "" "00727" "{PMID:Zbuk 2007:17898811}" "" "F" "" "(United States)" "" "0" "" "" "" "" "00047860" "" "" "" "1" "" "00727" "{PMID:Valle 2004:15169818}" "" "F" "" "(Spain)" "" "0" "" "" "" "" "00059031" "" "" "" "2" "" "00006" "{PMID:Liaw 1997:9140396}" "family, 2 affected males" "M" "?" "(United States)" "" "0" "" "" "" "" "00059032" "" "" "" "2" "" "00006" "{PMID:Liaw 1997:9140396}" "family, 2 affected males" "M" "?" "(United States)" "" "0" "" "" "" "" "00059033" "" "" "" "3" "" "00006" "{PMID:Liaw 1997:9140396}" "family, 3 affected females" "M" "?" "(United States)" "" "0" "" "" "" "" "00059034" "" "" "" "4" "" "00006" "{PMID:Liaw 1997:9140396}" "family, 4 affecteds (2F, 2M)" "F;M" "?" "(United States)" "" "0" "" "" "" "" "00059036" "" "" "" "1" "" "00006" "{PMID:Marsh 1997:9241266}" "family" "?" "?" "United States" "" "0" "" "" "" "" "00059037" "" "" "" "1" "" "00006" "{PMID:Marsh 1997:9241266}" "family, several affected" "?" "" "United States" "" "0" "" "" "" "" "00081841" "" "" "" "1" "" "01788" "" "" "M" "no" "" "" "0" "" "" "West Indies" "" "00081842" "" "" "" "1" "" "01788" "" "" "F" "no" "" "" "0" "" "" "Maghreb" "" "00090712" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090713" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00152702" "" "" "" "1" "" "02379" "" "First generation family" "F" "no" "India" "61y" "0" "no" "Chemotheraphy" "South Asian" "CACX-01" "00152731" "" "" "" "1" "" "00006" "{PMID:Nizialek 2015:25669429}" "analysis 1012 CS patients" "" "" "United States" "" "0" "" "" "" "25669429-Pat?" 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"Finland" "" "0" "" "" "" "139648" "00218075" "" "" "" "1" "" "00006" "{PMID:Slavin 2017:28649662}" "" "F" "" "" "" "0" "" "" "European, white" "28649662-PatJO_4136-0742" "00218462" "" "" "" "1" "" "00645" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "" "(United States)" "" "0" "" "" "(American)" "proband 4" "00218568" "" "" "" "1" "" "00645" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "Group 1/B" "00218597" "" "" "" "1" "" "00645" "{PMID:Delnatte 2006:16685657}" "" "F" "" "(France)" "" "0" "" "" "(European)" "16685657-Pat4" "00218944" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat26" "00218945" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat18" "00218946" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat16" "00240164" "" "" "" "1" "" "00006" "{PMID:O\'Donnell-Luria 2019:31079897}" "" "M" "" "" "" "0" "" "" "" "Pat6" "00246536" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00246537" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00246568" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00266294" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00289421" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00290166" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290167" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290168" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290169" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290170" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290171" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295118" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295571" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307764" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411535" "00307812" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411083" "00310373" "" "" "" "1" "" "03763" "{PMID:Kaiwar 2017:28963436}" "" "M" "?" "" "" "0" "" "" "" "Case 1" "00311029" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00336227" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00341107" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00341108" "" "" "" "2" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00341109" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00341110" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, 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"" "" "" "" "" "0" "" "" "" "" "00416636" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416637" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416638" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416639" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416640" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416641" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416642" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416643" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416644" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416645" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416646" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416647" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416648" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416649" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416650" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416651" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416652" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416653" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416654" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416655" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416656" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416657" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416658" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416659" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416660" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416661" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416662" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416663" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416664" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416665" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416666" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416667" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416668" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416669" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416670" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416671" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416672" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416673" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416674" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416675" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416676" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416677" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416678" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416679" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416680" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416681" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416682" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416683" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416684" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416685" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416686" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416687" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416688" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416689" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416690" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416691" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416692" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416693" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416694" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416695" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416696" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416697" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416698" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416699" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416700" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416701" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416702" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416703" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416704" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416705" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416706" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416707" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416708" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416709" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416710" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416711" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416712" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416713" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416714" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416715" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416716" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416717" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416718" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416719" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416720" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416721" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416722" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416723" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416724" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416725" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416726" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416727" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416728" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416729" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416730" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416731" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416732" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416733" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416734" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416735" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416736" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416737" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416738" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416739" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416740" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416741" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416742" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416743" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416744" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416745" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416746" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416747" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416748" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416749" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416750" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416751" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416752" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416753" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416754" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416755" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416756" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416757" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416758" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416759" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416760" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416761" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416762" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416763" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416764" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416765" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416766" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416767" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416768" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416769" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416770" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416771" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416772" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416773" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416774" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416775" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416776" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416777" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416778" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416779" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416780" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416781" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416782" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416783" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416784" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416785" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416786" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416787" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416788" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416789" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416790" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416791" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416792" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416793" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416794" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416795" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416796" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416797" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416798" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416799" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416800" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416801" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416802" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416803" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416804" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416805" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416806" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416807" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416808" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416809" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416810" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416811" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416812" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416813" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416814" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416815" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416816" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416817" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416818" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416819" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416820" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416821" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416822" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416823" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416824" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416825" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416826" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416827" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416828" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416829" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416830" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416831" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416832" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416833" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416834" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416835" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416836" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416837" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416838" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416839" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416840" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416841" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416842" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00416843" "" "" "" "1" "" "04313" "" "" "" "" "" "" "0" "" "" "" "" "00428261" "" "" "" "1" "" "00006" "{PMID:Desjardins 2023:34937768}" "" "M" "" "France" "" "0" "" "" "" "Pat1" "00428262" "" "" "" "1" "" "00006" "{PMID:Desjardins 2023:34937768}" "" "M" "" "France" "" "0" "" "" "" "Pat2" "00428263" "" "" "" "1" "" "00006" "{PMID:Desjardins 2023:34937768}" "" "M" "" "France" "" "0" "" "" "" "Pat3" "00428264" "" "" "" "1" "" "00006" "{PMID:Desjardins 2023:34937768}" "" "F" "" "France" "" "0" "" "" "" "Pat4" "00428265" "" "" "" "1" "" "00006" "{PMID:Desjardins 2023:34937768}" "" "M" "" "France" "" "0" "" "" "" "Pat5" "00428266" "" "" "" "1" "" "00006" "{PMID:Desjardins 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"{PMID:Desjardins 2023:34937768}" "" "F" "" "France" "" "0" "" "" "" "Pat15" "00435236" "" "" "" "1" "" "03361" "" "" "" "" "France" "" "" "" "" "" "" "00435354" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "199447" "00449738" "" "" "" "1" "" "04685" "" "" "F" "" "Denmark" "" "" "" "" "" "" "00450235" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0263" "00450236" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0585" "00450237" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0638" "00450238" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0684" "00450239" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0773" "00450240" "" "" "" "1" "" "00006" 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"00416811" "01445" "00416812" "01445" "00416813" "01445" "00416814" "01445" "00416815" "01445" "00416816" "01445" "00416817" "01445" "00416818" "01445" "00416819" "01445" "00416820" "01445" "00416821" "01445" "00416822" "01445" "00416823" "01445" "00416824" "01445" "00416825" "01445" "00416826" "01445" "00416827" "01445" "00416828" "01445" "00416829" "01445" "00416830" "01445" "00416831" "01445" "00416832" "01445" "00416833" "01445" "00416834" "01445" "00416835" "01445" "00416836" "01445" "00416837" "01445" "00416838" "01445" "00416839" "01445" "00416840" "01445" "00416841" "01445" "00416842" "01445" "00416843" "01445" "00428261" "06990" "00428262" "06990" "00428263" "06990" "00428264" "06990" "00428265" "06990" "00428266" "06990" "00428267" "06990" "00428268" "06990" "00428269" "06990" "00428270" "06990" "00428271" "06990" "00428272" "06990" "00428273" "06990" "00428274" "06990" "00428275" "06990" "00435236" "01420" "00435354" "01420" "00449738" "00424" "00450235" "00198" "00450236" "00198" "00450237" "00198" "00450238" "00198" "00450239" "00198" "00450240" "00198" "00450241" "00198" "00450242" "00198" "00450243" "00198" "00450244" "00198" "00450245" "00198" "00450246" "00198" "00450247" "00198" "00450248" "00198" "00450249" "00198" "00450250" "00198" "00455835" "00198" "00457364" "04296" "00457365" "04296" "00459531" "00198" "00461008" "00198" "00466174" "01445" "00467714" "01445" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00138, 00139, 00198, 00318, 00423, 00424, 00554, 00598, 01420, 01431, 01445, 01515, 01524, 02107, 02540, 02638, 03233, 04148, 04280, 04296, 04632, 05489, 05535, 05684, 06990 ## Count = 95 "{{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}}" "0000034750" "04296" "00047329" "00006" "Unknown" "" "macrocepahly; Papillomatous papules; Paraganglioma. Left common carotid 18y; Fibrocystic breast diasease 20-30y; Papillary thyroid cancer 37y; Paraganglioma. Right carotid body 39y; Uterine leiomyomas 30-40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000034751" "04296" "00047328" "00006" "Unknown" "" "lipoma; abdominal wall 0y; Haemangiomas 1y; Macrocephaly; Ovarian granulosa cell tumour 1y (No somatic PTEN or TP53 mutations. LOH PTEN . No LOH TP53); Xanthoastrocytoma. Temporal lobe 3y (No somatic PTEN or TP53 mutations. No LOH PTEN or TP53); Pelvic liposarcoma 4y (No somatic PTEN or TP53 mutations. LOH PTEN . No LOH TP53)" "" "" "" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000034752" "04296" "00047860" "00006" "Unknown" "" "multiple colonic polyps 10y; Subcutaneous nodules; Multinodular goitre 26y; Papillary thyroid cancer, multiple nodular hyperplasia and follicular adenomas 26y; Diffuse lymphocytic chronic thyroiditis; Ovarian Morgani hidatide 15y; Cerebellar dysplastic gangliocytoma 26y; Palmar keratosis 26y; Head fibroma 26y; Lipomas 26y; Melanocytic neavi x2 28y; Facial papules 28y; Oral papillomatosis 28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000045620" "01445" "00059031" "00006" "Familial, autosomal dominant" "" "melanoma (HP:0002861), trichilemmoma (HP:0012844), breast adenocarcinoma, no thyroid abormality (-HP:000082), glioblastoma (HP:0100843)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045621" "01445" "00059032" "00006" "Familial, autosomal dominant" "" "trichilemmoma (HP:0012844), no breast adenocarcinoma, thyroid follicular adenoma, no CNS abnormality" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045622" "01445" "00059033" "00006" "Familial, autosomal dominant" "" "trichilemmoma (HP:0012844), no breast adenocarcinoma, thyroid multinodular Goiter, macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045623" "01445" "00059034" "00006" "Familial, autosomal dominant" "" "trichilemmoma (HP:0012844), breast fibroadenoma/hamartoma, no thyroid abormality (-HP:000082), macrocephaly (HP:0000256) lehrmitte-Duclos" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045625" "01420" "00059036" "00006" "Familial, autosomal dominant" "" "macrocephaly (HP:0000256), no thyroid goiter (-HP:0000853), lipomas (HP:0001012), hemangiomas, leiomyomas, speckled penis, no breast abnormality" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045626" "01420" "00059037" "00006" "Familial, autosomal dominant" "" "macrocephaly (HP:0000256), Hashimoto\'s thyroiditis (HP:0000872), lipomas (HP:0001012), speckled penis, no breast abnormality" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061485" "01445" "00081841" "01788" "Familial, autosomal dominant" "43y" "typical mucocutaneous lesions, begnin thyroid lesions, hamartomas polys, glycogenic acanthosis, lipovascular lesions, macrocephaly (HP:0000256)" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "0000061486" "01445" "00081842" "01788" "Familial, autosomal dominant" "62y" "Typical mucocutaneous lesions, begnin thyroid lesions,begnin breast lesions,hamartomas polyps,glycogenic acanthosis, lipovascular lesions, macrocephaly, uterine fibromas" "" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "0000125645" "00598" "00152702" "02379" "Unknown" "61y" "HP:0030079 Cervix cancer" "55y" "59y" "HP:0030079 Cervix cancer" "" "" "" "" "" "" "" "" "" "" "Biopsy" "" "0000126070" "00598" "00153393" "02379" "Unknown" "61y" "HP:0030079 Cervix cancer" "55y" "59y" "HP:0030079 Cervix cancer" "" "" "" "" "" "" "" "" "" "" "Biopsy" "" "0000126071" "00598" "00153394" "02379" "Unknown" "61y" "HP:0030079 Cervix cancer" "55y" "59y" "HP:0030079 Cervix cancer" "" "" "" "" "" "" "" "" "" "" "Biopsy" "" "0000139234" "00198" "00174396" "01807" "Unknown" "" "Breast carcinoma (HP:0003002); Endometrial carcinoma (HP:0012114); Colon cancer (HP:0003003)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000142662" "00198" "00180268" "01807" "Unknown" "" "HP:0000820 (Abnormality of the thyroid gland)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144248" "01445" "00183544" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144249" "01445" "00183545" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144250" "01445" "00183546" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144251" "01445" "00183547" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144252" "04280" "00183548" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144253" "01445" "00183549" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144254" "01445" "00183550" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144255" "01445" "00183551" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144256" "01445" "00183552" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144257" "01445" "00183553" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144258" "01445" "00183554" "02940" "Unknown" "" "Cowden syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155588" "00198" "00207807" "01164" "Unknown" "" "HP:0002308 (Arnold-Chiari malformation); HP:0000256 (Macrocephaly)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156601" "00198" "00036619" "01164" "Unknown" "" "lobular breast cancer in situ bilateral, DCIS, pituitary adenoma, glaucoma, Cervix cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000156602" "00198" "00036620" "01164" "Unknown" "" "ataxia, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "ataxia, developmental delay" "" "0000156603" "00198" "00036621" "01164" "Unknown" "" "suspected Lhermitte-Duclos syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "Lhermitte-Duclos syndrome?" "" "0000156604" "00198" "00036623" "01164" "Unknown" "" "suspected Bannayan-Riley-Ruvalcaba syndrome: macrencephaly, pigmentation of glans penis" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bannayan-Riley-Ruvalcaba syndrome?" "" "0000156605" "00198" "00036625" "01164" "Unknown" "" "suspected familiar breast cancer, breast cancer at the age of 41 years and 2 paternal aunts at the age of 50, father CRC, thyroid cancer, brother Seminon" "" "" "" "" "" "" "" "" "" "" "" "" "" "breas cancer" "" "0000156606" "00198" "00036626" "01164" "Unknown" "" "breast cancer at the age of 36, hypothyroidism, maternal aunt: ovarian cancer at the age of 47, grand-mother maternal died from abdomen cancer at the age of 62" "" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000156607" "00198" "00036627" "01164" "Unknown" "" "Cowden syndrome: breast cancer at the age of 43, familiar predisposition of breast cancer, thyroid disease and intestinal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "Cowden syndrome" "" "0000156608" "00198" "00036628" "01164" "Unknown" "" "ataxia, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "ataxia, developmental delay" "" "0000157644" "05535" "00209038" "00006" "Familial, autosomal dominant" "" "Macrocephaly, developmental delay, and ketotic hypoglycemiaa" "" "" "" "" "" "" "" "" "" "" "" "" "macrocephaly / autism syndrome" "macrocephaly" "" "0000158937" "05535" "00210372" "01164" "Unknown" "" "macrocephaly + 3.7 SD at age 1,5y, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "1y" "" "0000166528" "04148" "00218075" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000166944" "01515" "00218462" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167050" "01515" "00218568" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167079" "01515" "00218597" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167508" "01515" "00218944" "00006" "Familial" "" "see paper; …" "" "3y" "" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167509" "01515" "00218945" "00006" "Unknown" "28y" "see paper; …" "" "27y" "" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167510" "01515" "00218946" "00006" "Unknown" "16y" "see paper; …" "" "11y" "" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000180315" "00198" "00240164" "00006" "Isolated (sporadic)" "3y1m" "intellectual disability; no autism (-HP:0000717); developmental delay; no epilepsy; macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186387" "00318" "00246536" "00643" "Unknown" "" "family history; no triple-negative breast cancer; 30y first breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000186388" "00318" "00246537" "00643" "Unknown" "" "no triple-negative breast cancer; 35y first breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000186419" "00318" "00246568" "00643" "Unknown" "" "family history; no triple-negative breast cancer; 36y first breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000204070" "00198" "00266294" "02551" "Unknown" "" "Motor delay (HP:0001270)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223033" "00198" "00289421" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormality of the head (HP:0000234); Macrocephaly (HP:0000256); Abnormality of the nervous system (HP:0000707); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223136" "00198" "00295571" "01164" "Unknown" "" "Colon cancer (HP:0003003)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235675" "05684" "00310373" "03763" "Isolated (sporadic)" "14y" "Feeding difficulties (HP:0011968); Global developmental delay (HP:0001263); Infantile spasms (HP:0012469); Inguinal hernia (HP:0000023); Dolichocephaly (HP:0000268); Midface retrusion (HP:0011800); Deeply set eye (HP:0000490); Short palpebral fissure (HP:0012745); Protruding ear (HP:0000411); Abnormality of the helix (HP:0011039); Aplasia/Hypoplasia of the earlobes (HP:0009906); Skin tags (HP:0010609); Microretrognathia (HP:0000308); Macrodontia (HP:0001572); Absent speech (HP:0001344); Impaired social interactions (HP:0000735); Behavioral abnormality (HP:0000708); Weakness of facial musculature (HP:0030319); Muscular hypotonia (HP:0001252); Decreased muscle mass (HP:0003199); Apraxia (HP:0002186); Brisk reflexes (HP:0001348); Short stature (HP:0004322); Decreased body weight (HP:0004325); Delayed skeletal maturation (HP:0002750); Optic nerve hypoplasia( HP:0000609); EEG with generalized spikes (HP:0012000); Generalized-onset seizure (HP:0002197); Decreased CSF 5-hydroxyindolacetic acid (HP:0025455); Decreased CSF homovanillic acid (HP:0003785); Intellectual disability, severe (HP:0010864); Difficulty walking (HP:0002355); Gastrostomy tube feeding in infancy (HP:0011471); Optic atrophy (HP:0000648)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236293" "00198" "00311029" "01164" "Unknown" "" "Macrocephaly (HP:0000256); Mild global developmental delay (HP:0011342)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269662" "00198" "00374452" "00006" "Familial, autosomal dominant" "" "Craniosynostosis, macrocephaly, seizures, behavioural problems, delayed speech, hypermetropia, papilliedema and slender fingers" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000274244" "01445" "00380394" "01164" "Unknown" "" "Macrocephaly, Abnormality of the face, Global developmental delay, Abnormal facial shape, Mild global developmental delay, Neurodevelopmental delay, Increased head circumference" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000292810" "00318" "00399704" "00006" "Familial, autosomal dominant" "" "familial breast cancer, invasive breast cancer, grade 2, ER+/HER2-" "26y-30y" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000319166" "06990" "00428261" "00006" "Unknown" "45y-50y" "see paper; ..., 14y education, computer scientist; macrocephaly, cranial perimeter 63cm; no cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319167" "06990" "00428262" "00006" "Unknown" "35y-40y" "see paper; ..., 15y education, employee; macrocephaly, cranial perimeter 61cm; no cognitive complaint, focal epilepsy, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319168" "06990" "00428263" "00006" "Unknown" "50y-55y" "see paper; ..., 17y education, teacher; macrocephaly, cranial perimeter 65cm; no cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319169" "06990" "00428264" "00006" "Unknown" "30y-35y" "see paper; ..., 11y education, caregiver; macrocephaly, cranial perimeter 62cm; cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319170" "06990" "00428265" "00006" "Unknown" "30y-35y" "see paper; ..., 15y education, human resources; macrocephaly, cranial perimeter 62cm; no cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319171" "06990" "00428266" "00006" "Unknown" "50y-55y" "see paper; ..., 14y education, secretary; macrocephaly, cranial perimeter 60cm; no cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319172" "06990" "00428267" "00006" "Unknown" "45y-50y" "see paper; ..., 15y education, public official; macrocephaly, cranial perimeter 59cm; no cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319173" "06990" "00428268" "00006" "Unknown" "65y-70y" "see paper; ..., 10y education, child care assistant; macrocephaly, cranial perimeter 58cm; no cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319174" "06990" "00428269" "00006" "Unknown" "45y-50y" "see paper; ..., 12y education, specialised helper in preschool; macrocephaly, cranial perimeter 59.5cm; cognitive complaint, focal epilepsy, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319175" "06990" "00428270" "00006" "Unknown" "15y-20y" "see paper; ..., 10y education, student; no macrocephaly, cranial perimeter 59.6cm; no cognitive complaint, no neurological history, motor delay, language delay, autistic spectrum disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319176" "06990" "00428271" "00006" "Unknown" "20y-25y" "see paper; ..., 12y education, automobile inspector; macrocephaly, cranial perimeter 64cm; no cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319177" "06990" "00428272" "00006" "Unknown" "25y-30y" "see paper; ..., 12y education, dog handler; macrocephaly, cranial perimeter 60cm; no cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319178" "06990" "00428273" "00006" "Unknown" "55y-60y" "see paper; ..., 16y education, director of company; macrocephaly, cranial perimeter 61cm; no cognitive complaint, focal epilepsy, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319179" "06990" "00428274" "00006" "Unknown" "40y-45y" "see paper; ..., 14y education, public official; macrocephaly, cranial perimeter 62cm; no cognitive complaint, no neurological history, no neurodevelopment disorder" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000319180" "06990" "00428275" "00006" "Unknown" "45y-50y" "see paper; ..., 8y education, public official; macrocephaly, cranial perimeter 62cm; cognitive complaint, no neurological history, language delay" "" "" "" "" "" "" "" "" "" "" "" "" "CWS1" "Cowden syndrome" "" "0000325549" "01420" "00435354" "01164" "Isolated (sporadic)" "06y" "Macrocephaly, Autistic behavior, Delayed speech and language development, Developmental regression, Poor speech, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000339295" "00198" "00450235" "00006" "Isolated (sporadic)" "11y" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339296" "00198" "00450236" "00006" "Isolated (sporadic)" "7y" "overgrowth head; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339297" "00198" "00450237" "00006" "Isolated (sporadic)" "8y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339298" "00198" "00450238" "00006" "Isolated (sporadic)" "11y" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339299" "00198" "00450239" "00006" "Isolated (sporadic)" "11y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339300" "00198" "00450240" "00006" "Isolated (sporadic)" "16y" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339301" "00198" "00450241" "00006" "Familial, autosomal dominant" "10y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339302" "00198" "00450242" "00006" "Familial, autosomal dominant" "14y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339303" "00198" "00450243" "00006" "Familial, autosomal dominant" "7y" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339304" "00198" "00450244" "00006" "Unknown" "17y" "overgrowth; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339305" "00198" "00450245" "00006" "Unknown" "13y3m" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339306" "00198" "00450246" "00006" "Unknown" "43y" "overgrowth; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339307" "00198" "00450247" "00006" "Unknown" "1y6m" "overgrowth head, overgrowth height; severe intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339308" "00198" "00450248" "00006" "Unknown" "12y" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339309" "00198" "00450249" "00006" "Unknown" "3y" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339310" "00198" "00450250" "00006" "Unknown" "14y" "overgrowth; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000344368" "00198" "00455835" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "macrocephaly/autism syndrome" "neurogenetic diseases" "" "0000345826" "04296" "00457364" "04749" "Unknown" "" "Multiple adenomatous & hyperplastic polyps 43y; Tongue papilloma 53y; Thyroid nodule 41y; Back lipoma 41y; Macocephaly; keratosis; trichilemmomas; short stature, flat nasal bridge, severe teeth cavies (he lost all his teeth in his 30-40s); small chin/jaw (Micrognathia)" "" "" "" "" "" "" "" "" "" "" "" "" "" "MINAS" "" "0000345827" "04296" "00457365" "04749" "Unknown" "" "Synchronous TNBC and HER2+ breast cancer primaries 30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "MINAS" "" "0000347608" "00198" "00459531" "03544" "Isolated (sporadic)" "" "HP:0000098, HP:0001513, HP:0001252, HP:0000256, HP:0000574, HP:0000306, HP:0000998" "" "" "" "" "" "" "" "" "" "" "" "" "PHTS" "multiple congenital abnormalities" "" "0000351561" "01445" "00466174" "03820" "Unknown" "" "Intellectual disability, Deafness, Macrocephaly, Cleft palate" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000352880" "01445" "00467714" "01164" "Familial, autosomal dominant" "54y" "Index case with breast cancer, maternal grandmother and great-grandmother breast cancer; three aunts maternal side breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 749 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003197" "00003279" "1" "00552" "00552" "2013-11-05 18:14:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000036688" "00036618" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036689" "00036619" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036690" "00036620" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036691" "00036621" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036692" "00036622" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036693" "00036623" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036694" "00036624" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036695" "00036625" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036696" "00036626" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036697" "00036627" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036698" "00036628" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000046403" "00046298" "1" "01339" "00008" "2015-07-03 21:52:27" "" "" "SEQ" "DNA" "" "" "0000046404" "00046299" "1" "01339" "00008" "2015-07-03 21:52:27" "" "" "SEQ" "DNA" "" "" "0000047429" "00047328" "1" "00727" "00727" "2015-08-20 18:22:42" "" "" "SEQ" "DNA" "" "" "0000047430" "00047329" "1" "00727" "00727" "2015-08-20 18:25:47" "" "" "SEQ" "DNA" "" "" "0000047986" "00047860" "1" "00727" "00727" "2015-08-28 16:41:13" "" "" "SEQ" "DNA" "" "" "0000058997" "00059031" "1" "00006" "00006" "2016-02-16 07:05:43" "" "" "SEQ" "DNA" "" "" "0000058998" "00059032" "1" "00006" "00006" "2016-02-16 07:05:43" "" "" "SEQ" "DNA" "" "" "0000058999" "00059033" "1" "00006" "00006" "2016-02-16 07:05:43" "" "" "SEQ" "DNA" "" "" "0000059000" "00059034" "1" "00006" "00006" "2016-02-16 07:05:43" "" "" "SEQ" "DNA" "" "" "0000059002" "00059036" "1" "00006" "00006" "2016-02-16 07:53:05" "" "" "SEQ" "DNA" "" "" "0000059003" "00059037" "1" "00006" "00006" "2016-02-16 08:02:56" "" "" "SEQ" "DNA" "" "" "0000081976" "00081841" "1" "01788" "01788" "2016-10-28 11:52:53" "00006" "2016-11-12 15:36:09" "PCR;SEQ-NG-I" "DNA" "blood sample" "" "0000081978" "00081842" "1" "01788" "01788" "2016-10-28 13:58:39" "00006" "2016-11-12 15:34:43" "PCR;SEQ-NG-I" "DNA" "blood sample" "" "0000090857" "00090712" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090858" "00090713" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000153562" "00152702" "1" "02379" "02379" "2018-02-07 06:33:49" "" "" "SEQ" "DNA" "Cervical tumor tissue" "PTEN, PIK3CA, KRAS" "0000153593" "00152731" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153594" "00152732" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153595" "00152733" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153596" "00152734" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153597" "00152735" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153598" "00152736" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153599" "00152737" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153600" "00152738" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153601" "00152739" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153602" "00152740" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153603" "00152741" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153604" "00152742" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153605" "00152743" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153606" "00152744" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153607" "00152745" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153608" "00152746" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153609" "00152747" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153610" "00152748" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153611" "00152749" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153612" "00152750" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153613" "00152751" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153614" "00152752" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153615" "00152753" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153616" "00152754" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153617" "00152755" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153618" "00152756" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153619" "00152757" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153620" "00152758" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153621" "00152759" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153622" "00152760" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153623" "00152761" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153624" "00152762" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153625" "00152763" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153626" "00152764" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153627" "00152765" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153628" "00152766" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153629" "00152767" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153630" "00152768" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153631" "00152769" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153632" "00152770" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153633" "00152771" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153634" "00152772" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153635" "00152773" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153636" "00152774" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153637" "00152775" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153638" "00152776" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153639" "00152777" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153640" "00152778" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153641" "00152779" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153642" "00152780" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153643" "00152781" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153644" "00152782" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153645" "00152783" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153646" "00152784" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153647" "00152785" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153648" "00152786" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153649" "00152787" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153650" "00152788" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153651" "00152789" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153652" "00152790" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153653" "00152791" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153654" "00152792" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153655" "00152793" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153656" "00152794" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153657" "00152795" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153658" "00152796" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153659" "00152797" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153660" "00152798" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153661" "00152799" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153662" "00152800" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153663" "00152801" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153664" "00152802" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153665" "00152803" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153666" "00152804" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153667" "00152805" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153668" "00152806" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153669" "00152807" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153670" "00152808" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153671" "00152809" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153672" "00152810" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153673" "00152811" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153674" "00152812" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153675" "00152813" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153676" "00152814" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153677" "00152815" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153678" "00152816" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153679" "00152817" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153680" "00152818" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153681" "00152819" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153682" "00152820" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153683" "00152821" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153684" "00152822" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153685" "00152823" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153686" "00152824" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153687" "00152825" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153688" "00152826" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153689" "00152827" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153690" "00152828" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153691" "00152829" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153692" "00152830" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153693" "00152831" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153694" "00152832" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153695" "00152833" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153696" "00152834" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153697" "00152835" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153698" "00152836" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153699" "00152837" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153700" "00152838" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153701" "00152839" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153702" "00152840" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153703" "00152841" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" 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"0000153788" "00152926" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153789" "00152927" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153790" "00152928" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153791" "00152929" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153792" "00152930" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153793" "00152931" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153794" "00152932" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153795" "00152933" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153796" "00152934" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153797" "00152935" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153798" "00152936" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153799" "00152937" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153800" "00152938" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000153801" "00152939" "1" "00006" "00006" "2018-02-09 14:44:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000154254" "00153393" "1" "02379" "02379" "2018-02-18 14:22:57" "" "" "SEQ" "DNA" "Cervical tumor tissue" "PTEN, PIK3CA, KRAS" "0000154255" "00153394" "1" "02379" "02379" "2018-02-18 14:40:30" "" "" "SEQ" "DNA" "Cervical tumor tissue" "PTEN, PIK3CA, KRAS" "0000165852" "00164984" "1" "02509" "02509" "2018-06-20 13:23:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000168989" "00168117" "1" "02537" "02537" "2018-07-20 09:29:07" "" "" "SEQ-NG" "DNA" "" "" "0000175287" "00174396" "1" "01807" "01807" "2018-08-08 12:36:33" "" "" "SEQ" "DNA" "" "" "0000178131" "00177228" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178132" "00177229" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178133" "00177230" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178134" "00177231" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178135" "00177232" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178136" "00177233" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178137" "00177234" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178138" "00177235" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178139" "00177236" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178140" "00177237" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178141" "00177238" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178142" "00177239" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178143" "00177240" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178144" "00177241" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178145" "00177242" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178146" "00177243" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178147" "00177244" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178148" "00177245" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178149" "00177246" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178150" "00177247" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178151" "00177248" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178152" "00177249" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178153" "00177250" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178154" "00177251" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178155" "00177252" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178156" "00177253" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178157" "00177254" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178158" "00177255" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178159" "00177256" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178160" "00177257" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178161" "00177258" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178162" "00177259" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178163" "00177260" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178164" "00177261" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178165" "00177262" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178166" "00177263" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178167" "00177264" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178168" "00177265" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178169" "00177266" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178170" "00177267" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000178171" "00177268" "1" "01714" "00006" "2018-08-17 01:16:42" "" "" "SEQ" "DNA" "" "" "0000181203" "00180268" "1" "01807" "01807" "2018-08-28 12:04:05" "" "" "SEQ" "DNA" "" "" "0000182662" "00181702" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182663" "00181703" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182664" "00181704" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182665" "00181705" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182666" "00181706" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182667" "00181707" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182668" "00181708" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182669" "00181709" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182670" "00181710" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182671" "00181711" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182672" "00181712" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182673" "00181713" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182674" "00181714" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182675" "00181715" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182676" "00181716" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182677" "00181717" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182678" "00181718" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182679" "00181719" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182680" "00181720" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182681" "00181721" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182682" "00181722" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000182683" "00181723" "1" "01714" "00006" "2018-08-25 06:42:38" "00009" "2018-10-11 14:19:58" "SEQ" "DNA" "" "" "0000184047" "00183089" "1" "02589" "02589" "2018-10-13 17:07:58" "" "" "SEQ-NG-R" "DNA" "peripheral blood" "" "0000184512" "00183544" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184513" "00183545" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184514" "00183546" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184515" "00183547" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184516" "00183548" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184517" "00183549" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184518" "00183550" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184519" "00183551" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184520" "00183552" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184521" "00183553" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000184522" "00183554" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "SEQ-NG" "DNA" "" "CRC 10 gene panel" "0000208848" "00207807" "1" "01164" "01164" "2018-11-30 14:52:54" "" "" "SEQ-NG" "DNA" "" "" "0000210095" "00209038" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS" "0000211448" "00210372" "1" "01164" "01164" "2018-12-28 10:13:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000219145" "00218075" "1" "00006" "00006" "2019-01-22 09:11:01" "" "" "SEQ;SEQ-NG" "DNA" "" "26 gene panel BRCA" "0000219532" "00218462" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219638" "00218568" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;DGGE;PCRm;DHPLC" "DNA" "" "screening" "0000219667" "00218597" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "FISH;PCRlr" "DNA" "" "screening" "0000220016" "00218944" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220017" "00218945" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220018" "00218946" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000241267" "00240164" "1" "00006" "00006" "2019-06-11 19:09:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000247648" "00246536" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000247649" "00246537" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000247680" "00246568" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000267417" "00266294" "1" "02551" "02551" "2019-10-21 10:58:49" "" "" "SEQ" "DNA" "" "" "0000290591" "00289421" "1" "01164" "01164" "2020-03-09 11:33:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000291334" "00290166" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291335" "00290167" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291336" "00290168" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291337" "00290169" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291338" "00290170" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291339" "00290171" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296286" "00295118" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296741" "00295571" "1" "01164" "01164" "2020-03-18 10:48:36" "" "" "SEQ-NG-S" "DNA" "" "" "0000308904" "00307764" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308952" "00307812" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000311524" "00310373" "1" "03763" "03763" "2020-09-10 11:46:36" "" "" "SEQ-NG" "DNA" "" "" "0000312181" "00311029" "1" "01164" "01164" "2020-09-14 10:29:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000337457" "00336227" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342337" "00341107" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342338" "00341108" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342339" "00341109" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342340" "00341110" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342341" "00341111" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342342" "00341112" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342343" "00341113" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342344" "00341114" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342345" "00341115" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342346" "00341116" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342347" "00341117" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342348" "00341118" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342349" "00341119" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342350" "00341120" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342351" "00341121" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342352" "00341122" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342353" "00341123" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342354" "00341124" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342355" "00341125" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342356" "00341126" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342357" "00341127" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342358" "00341128" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342359" "00341129" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342360" "00341130" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342361" "00341131" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342362" "00341132" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342363" "00341133" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342364" "00341134" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342365" "00341135" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342366" "00341136" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342367" "00341137" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342368" "00341138" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342369" "00341139" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342370" "00341140" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342371" "00341141" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342372" "00341142" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342373" "00341143" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342374" "00341144" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342375" "00341145" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342376" "00341146" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342377" "00341147" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342378" "00341148" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342379" "00341149" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343588" "00342358" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343589" "00342359" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343590" "00342360" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343591" "00342361" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343592" "00342362" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343593" "00342363" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343594" "00342364" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343657" "00342427" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343658" "00342428" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349482" "00348252" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349483" "00348253" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349484" "00348254" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349485" "00348255" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349486" "00348256" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349487" "00348257" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349488" "00348258" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349489" "00348259" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349490" "00348260" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349491" "00348261" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349492" "00348262" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349493" "00348263" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349494" "00348264" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349495" "00348265" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349496" "00348266" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349497" "00348267" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349498" "00348268" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349499" "00348269" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349500" "00348270" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349501" "00348271" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349502" "00348272" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349503" "00348273" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349504" "00348274" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349505" "00348275" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349506" "00348276" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349507" "00348277" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349508" "00348278" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349509" "00348279" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349510" "00348280" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349511" "00348281" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349512" "00348282" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349513" "00348283" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349514" "00348284" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349515" "00348285" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349516" "00348286" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349517" "00348287" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349518" "00348288" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349519" "00348289" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349520" "00348290" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349521" "00348291" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349522" "00348292" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349523" "00348293" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349524" "00348294" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349525" "00348295" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349526" "00348296" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349527" "00348297" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349528" "00348298" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349529" "00348299" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349530" "00348300" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349531" "00348301" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349532" "00348302" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349533" "00348303" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349534" "00348304" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349535" "00348305" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349536" "00348306" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349537" "00348307" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349538" "00348308" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349539" "00348309" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349540" "00348310" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349541" "00348311" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349542" "00348312" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349543" "00348313" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349544" "00348314" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354538" "00353308" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354539" "00353309" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354540" "00353310" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354541" "00353311" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354542" "00353312" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354543" "00353313" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354544" "00353314" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354545" "00353315" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354546" "00353316" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354547" "00353317" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354548" "00353318" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354549" "00353319" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354550" "00353320" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354551" "00353321" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354552" "00353322" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359314" "00358084" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359315" "00358085" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359316" "00358086" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359317" "00358087" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359318" "00358088" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359319" "00358089" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359320" "00358090" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359321" "00358091" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359322" "00358092" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359323" "00358093" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359324" "00358094" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359325" "00358095" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359326" "00358096" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359327" "00358097" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359328" "00358098" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000375646" "00374452" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000381608" "00380394" "1" "01164" "01164" "2021-08-16 10:12:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000400947" "00399704" "1" "00006" "00006" "2022-01-22 16:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000408233" "00406987" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000411367" "00410105" "1" "04313" "04313" "2022-05-19 09:39:58" "" "" "SEQ-NG" "DNA" "" "" "0000411368" "00410106" "1" "04313" "04313" "2022-05-19 09:51:24" "" "" "SEQ-NG" "DNA" "" "" "0000417915" "00416634" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417916" "00416635" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417917" "00416636" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417918" "00416637" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417919" "00416638" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417920" "00416639" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417921" "00416640" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417922" "00416641" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417923" "00416642" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417924" "00416643" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417925" "00416644" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417926" "00416645" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417927" "00416646" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417928" "00416647" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417929" "00416648" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417930" "00416649" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417931" "00416650" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417932" "00416651" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417933" "00416652" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417934" "00416653" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417935" "00416654" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417936" "00416655" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417937" "00416656" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417938" "00416657" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417939" "00416658" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417940" "00416659" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417941" "00416660" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417942" "00416661" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417943" "00416662" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417944" "00416663" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417945" "00416664" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417946" "00416665" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417947" "00416666" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417948" "00416667" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417949" "00416668" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417950" "00416669" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417951" "00416670" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417952" "00416671" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417953" "00416672" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417954" "00416673" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417955" "00416674" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417956" "00416675" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417957" "00416676" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417958" "00416677" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417959" "00416678" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417960" "00416679" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417961" "00416680" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417962" "00416681" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417963" "00416682" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417964" "00416683" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417965" "00416684" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417966" "00416685" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417967" "00416686" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417968" "00416687" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417969" "00416688" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417970" "00416689" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417971" "00416690" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417972" "00416691" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417973" "00416692" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417974" "00416693" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417975" "00416694" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417976" "00416695" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417977" "00416696" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417978" "00416697" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417979" "00416698" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417980" "00416699" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417981" "00416700" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417982" "00416701" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417983" "00416702" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417984" "00416703" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417985" "00416704" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417986" "00416705" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417987" "00416706" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417988" "00416707" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417989" "00416708" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417990" "00416709" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417991" "00416710" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417992" "00416711" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417993" "00416712" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417994" "00416713" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417995" "00416714" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417996" "00416715" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417997" "00416716" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417998" "00416717" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000417999" "00416718" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418000" "00416719" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418001" "00416720" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418002" "00416721" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418003" "00416722" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418004" "00416723" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418005" "00416724" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418006" "00416725" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418007" "00416726" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418008" "00416727" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418009" "00416728" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418010" "00416729" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418011" "00416730" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418012" "00416731" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418013" "00416732" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418014" "00416733" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418015" "00416734" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418016" "00416735" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418017" "00416736" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418018" "00416737" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418019" "00416738" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418020" "00416739" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418021" "00416740" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418022" "00416741" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418023" "00416742" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418024" "00416743" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418025" "00416744" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418026" "00416745" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418027" "00416746" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418028" "00416747" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418029" "00416748" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418030" "00416749" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418031" "00416750" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418032" "00416751" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418033" "00416752" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418034" "00416753" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418035" "00416754" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418036" "00416755" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418037" "00416756" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418038" "00416757" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418039" "00416758" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418040" "00416759" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418041" "00416760" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418042" "00416761" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418043" "00416762" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418044" "00416763" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418045" "00416764" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418046" "00416765" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418047" "00416766" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418048" "00416767" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418049" "00416768" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418050" "00416769" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418051" "00416770" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418052" "00416771" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418053" "00416772" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418054" "00416773" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418055" "00416774" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418056" "00416775" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418057" "00416776" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418058" "00416777" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418059" "00416778" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418060" "00416779" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418061" "00416780" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418062" "00416781" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418063" "00416782" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418064" "00416783" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418065" "00416784" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418066" "00416785" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418067" "00416786" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418068" "00416787" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418069" "00416788" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418070" "00416789" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418071" "00416790" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418072" "00416791" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418073" "00416792" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418074" "00416793" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418075" "00416794" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418076" "00416795" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418077" "00416796" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418078" "00416797" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418079" "00416798" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418080" "00416799" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418081" "00416800" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418082" "00416801" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418083" "00416802" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418084" "00416803" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418085" "00416804" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418086" "00416805" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418087" "00416806" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418088" "00416807" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418089" "00416808" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418090" "00416809" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418091" "00416810" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418092" "00416811" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418093" "00416812" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418094" "00416813" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418095" "00416814" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418096" "00416815" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418097" "00416816" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418098" "00416817" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418099" "00416818" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418100" "00416819" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418101" "00416820" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418102" "00416821" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418103" "00416822" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418104" "00416823" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418105" "00416824" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418106" "00416825" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418107" "00416826" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418108" "00416827" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418109" "00416828" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418110" "00416829" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418111" "00416830" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418112" "00416831" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418113" "00416832" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418114" "00416833" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418115" "00416834" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418116" "00416835" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418117" "00416836" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418118" "00416837" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418119" "00416838" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418120" "00416839" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418121" "00416840" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418122" "00416841" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418123" "00416842" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000418124" "00416843" "1" "04313" "04313" "2022-09-07 16:01:25" "" "" "SEQ" "DNA" "" "" "0000429672" "00428261" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429673" "00428262" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429674" "00428263" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429675" "00428264" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429676" "00428265" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429677" "00428266" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429678" "00428267" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429679" "00428268" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429680" "00428269" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429681" "00428270" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429682" "00428271" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429683" "00428272" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429684" "00428273" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429685" "00428274" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429686" "00428275" "1" "00006" "00006" "2022-12-28 15:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000436714" "00435236" "1" "03361" "03361" "2023-06-20 09:38:19" "" "" "SEQ-NG-IT" "DNA" "" "" "0000436834" "00435354" "1" "01164" "01164" "2023-07-18 12:35:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000451329" "00449738" "1" "04685" "04685" "2024-05-08 12:16:04" "" "" "SEQ-NG-IT" "DNA" "FFPE" "" "0000451831" "00450235" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451832" "00450236" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451833" "00450237" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451834" "00450238" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451835" "00450239" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451836" "00450240" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451837" "00450241" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451838" "00450242" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451839" "00450243" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451840" "00450244" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451841" "00450245" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451842" "00450246" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451843" "00450247" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451844" "00450248" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451845" "00450249" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451846" "00450250" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000457451" "00455835" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000458984" "00457364" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" "0000458985" "00457365" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" "0000461157" "00459531" "1" "03544" "03544" "2025-01-08 13:05:22" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000462640" "00461008" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000467832" "00466174" "1" "03820" "03820" "2025-08-06 14:42:40" "" "" "SEQ-NG" "DNA" "" "" "0000469380" "00467714" "1" "01164" "01164" "2025-10-28 15:10:50" "" "" "SEQ-NG-RNA" "RNA" "blood lymphocytes" "Targeted short-read 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"0000381608" "PTEN" "0000411367" "PTEN" "0000411368" "PTEN" "0000417915" "PTEN" "0000417916" "PTEN" "0000417917" "PTEN" "0000417918" "PTEN" "0000417919" "PTEN" "0000417920" "PTEN" "0000417921" "PTEN" "0000417922" "PTEN" "0000417923" "PTEN" "0000417924" "PTEN" "0000417925" "PTEN" "0000417926" "PTEN" "0000417927" "PTEN" "0000417928" "PTEN" "0000417929" "PTEN" "0000417930" "PTEN" "0000417931" "PTEN" "0000417932" "PTEN" "0000417933" "PTEN" "0000417934" "PTEN" "0000417935" "PTEN" "0000417936" "PTEN" "0000417937" "PTEN" "0000417938" "PTEN" "0000417939" "PTEN" "0000417940" "PTEN" "0000417941" "PTEN" "0000417942" "PTEN" "0000417943" "PTEN" "0000417944" "PTEN" "0000417945" "PTEN" "0000417946" "PTEN" "0000417947" "PTEN" "0000417948" "PTEN" "0000417949" "PTEN" "0000417950" "PTEN" "0000417951" "PTEN" "0000417952" "PTEN" "0000417953" "PTEN" "0000417954" "PTEN" "0000417955" "PTEN" "0000417956" "PTEN" "0000417957" "PTEN" "0000417958" "PTEN" "0000417959" "PTEN" "0000417960" "PTEN" "0000417961" "PTEN" "0000417962" "PTEN" "0000417963" "PTEN" "0000417964" "PTEN" "0000417965" "PTEN" "0000417966" "PTEN" "0000417967" "PTEN" "0000417968" "PTEN" "0000417969" "PTEN" "0000417970" "PTEN" "0000417971" "PTEN" "0000417972" "PTEN" "0000417973" "PTEN" "0000417974" "PTEN" "0000417975" "PTEN" "0000417976" "PTEN" "0000417977" "PTEN" "0000417978" "PTEN" "0000417979" "PTEN" "0000417980" "PTEN" "0000417981" "PTEN" "0000417982" "PTEN" "0000417983" "PTEN" "0000417984" "PTEN" "0000417985" "PTEN" "0000417986" "PTEN" "0000417987" "PTEN" "0000417988" "PTEN" "0000417989" "PTEN" "0000417990" "PTEN" "0000417991" "PTEN" "0000417992" "PTEN" "0000417993" "PTEN" "0000417994" "PTEN" "0000417995" "PTEN" "0000417996" "PTEN" "0000417997" "PTEN" "0000417998" "PTEN" "0000417999" "PTEN" "0000418000" "PTEN" "0000418001" "PTEN" "0000418002" "PTEN" "0000418003" "PTEN" "0000418004" "PTEN" "0000418005" "PTEN" "0000418006" "PTEN" "0000418007" "PTEN" "0000418008" "PTEN" "0000418009" "PTEN" "0000418010" "PTEN" "0000418011" "PTEN" "0000418012" "PTEN" "0000418013" "PTEN" "0000418014" "PTEN" "0000418015" "PTEN" "0000418016" "PTEN" "0000418017" "PTEN" "0000418018" "PTEN" "0000418019" "PTEN" "0000418020" "PTEN" "0000418021" "PTEN" "0000418022" "PTEN" "0000418023" "PTEN" "0000418024" "PTEN" "0000418025" "PTEN" "0000418026" "PTEN" "0000418027" "PTEN" "0000418028" "PTEN" "0000418029" "PTEN" "0000418030" "PTEN" "0000418031" "PTEN" "0000418032" "PTEN" "0000418033" "PTEN" "0000418034" "PTEN" "0000418035" "PTEN" "0000418036" "PTEN" "0000418037" "PTEN" "0000418038" "PTEN" "0000418039" "PTEN" "0000418040" "PTEN" "0000418041" "PTEN" "0000418042" "PTEN" "0000418043" "PTEN" "0000418044" "PTEN" "0000418045" "PTEN" "0000418046" "PTEN" "0000418047" "PTEN" "0000418048" "PTEN" "0000418049" "PTEN" "0000418050" "PTEN" "0000418051" "PTEN" "0000418052" "PTEN" "0000418053" "PTEN" "0000418054" "PTEN" "0000418055" "PTEN" "0000418056" "PTEN" "0000418057" "PTEN" "0000418058" "PTEN" "0000418059" "PTEN" "0000418060" "PTEN" "0000418061" "PTEN" "0000418062" "PTEN" "0000418063" "PTEN" "0000418064" "PTEN" "0000418065" "PTEN" "0000418066" "PTEN" "0000418067" "PTEN" "0000418068" "PTEN" "0000418069" "PTEN" "0000418070" "PTEN" "0000418071" "PTEN" "0000418072" "PTEN" "0000418073" "PTEN" "0000418074" "PTEN" "0000418075" "PTEN" "0000418076" "PTEN" "0000418077" "PTEN" "0000418078" "PTEN" "0000418079" "PTEN" "0000418080" "PTEN" "0000418081" "PTEN" "0000418082" "PTEN" "0000418083" "PTEN" "0000418084" "PTEN" "0000418085" "PTEN" "0000418086" "PTEN" "0000418087" "PTEN" "0000418088" "PTEN" "0000418089" "PTEN" "0000418090" "PTEN" "0000418091" "PTEN" "0000418092" "PTEN" "0000418093" "PTEN" "0000418094" "PTEN" "0000418095" "PTEN" "0000418096" "PTEN" "0000418097" "PTEN" "0000418098" "PTEN" "0000418099" "PTEN" "0000418100" "PTEN" "0000418101" "PTEN" "0000418102" "PTEN" "0000418103" "PTEN" "0000418104" "PTEN" "0000418105" "PTEN" "0000418106" "PTEN" "0000418107" "PTEN" "0000418108" "PTEN" "0000418109" "PTEN" "0000418110" "PTEN" "0000418111" "PTEN" "0000418112" "PTEN" "0000418113" "PTEN" "0000418114" "PTEN" "0000418115" "PTEN" "0000418116" "PTEN" "0000418117" "PTEN" "0000418118" "PTEN" "0000418119" "PTEN" "0000418120" "PTEN" "0000418121" "PTEN" "0000418122" "PTEN" "0000418123" "PTEN" "0000418124" "PTEN" "0000436834" "PTEN" "0000451329" "PTEN" "0000462640" "PTEN" "0000469380" "PTEN" ## 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 = 1458 "{{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}}" "0000021746" "0" "70" "10" "89720805" "89720808" "del" "0" "00552" "PTEN_000301" "g.89720805_89720808del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961048_87961051del" "" "likely pathogenic" "" "0000063813" "1" "10" "10" "89623901" "89623901" "subst" "0" "01164" "PTEN_000312" "g.89623901G>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.87864144G>C" "" "benign" "" "0000063814" "1" "50" "10" "89623581" "89623581" "subst" "0" "01164" "PTEN_000310" "g.89623581C>T" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.87863824C>T" "" "VUS" "" "0000063815" "1" "90" "10" "89728400" "89728400" "dup" "0" "01164" "PTEN_000306" "g.89728400dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87968643dup" "" "pathogenic" "" "0000063816" "1" "90" "10" "89653867" "89653871" "del" "0" "01164" "PTEN_000226" "g.89653867_89653871del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894110_87894114del" "" "pathogenic" "" "0000063817" "1" "10" "10" "89623861" "89623861" "del" "0" "01164" "PTEN_000311" "g.89623861del" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.87864104del" "" "benign" "" "0000063818" "1" "90" "10" "89624272" "89624272" "dup" "0" "01164" "PTEN_000308" "g.89624272dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864515dup" "" "pathogenic" "" "0000063819" "1" "10" "10" "89724846" "89724846" "subst" "0" "01164" "PTEN_000305" "g.89724846T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87965089T>C" "" "benign" "" "0000063820" "1" "50" "10" "89623383" "89623383" "subst" "0" "01164" "PTEN_000314" "g.89623383T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.87863626T>C" "" "VUS" "" "0000063821" "1" "50" "10" "89623251" "89623251" "subst" "0" "01164" "PTEN_000313" "g.89623251G>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.87863494G>C" "" "VUS" "" "0000063822" "1" "10" "10" "89712062" "89712062" "subst" "4.2555E-6" "01164" "PTEN_000304" "g.89712062C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952305C>T" "" "benign" "" "0000063823" "1" "90" "10" "89730077" "89730081" "dup" "0" "01164" "PTEN_000307" "g.89730077_89730081dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87970320_87970324dup" "" "pathogenic" "" "0000073927" "0" "99" "10" "89690810" "89690810" "subst" "0" "01339" "PTEN_000315" "g.89690810G>T" "1/1658" "{kConFab:P}" "" "PTEN 217 G>T (E73X)" "" "Unknown" "" "" "0" "" "" "g.87931053G>T" "" "pathogenic" "kConFab" "0000073928" "0" "99" "10" "89692818" "89692820" "delins" "0" "01339" "PTEN_000217" "g.89692818_89692820delinsCC" "1/1658" "{kConFab:P}" "" "PTEN 302-304 del TCA ins CC" "" "Unknown" "" "" "0" "" "" "g.87933061_87933063delinsCC" "" "pathogenic" "kConFab" "0000076125" "0" "90" "10" "89692850" "89692850" "subst" "0" "00727" "PTEN_000001" "g.89692850C>G" "" "{PMID:Plon 2008:18669439}" "" "" "" "Germline" "" "" "0" "" "" "g.87933093C>G" "" "pathogenic" "" "0000076126" "0" "90" "10" "89624273" "89624273" "dup" "0" "00727" "PTEN_000109" "g.89624273dup" "" "{PMID:Zbuk 2007:17898811}" "" "" "" "Germline" "" "" "0" "" "" "g.87864516dup" "" "pathogenic" "" "0000076764" "0" "90" "10" "89712021" "89712021" "subst" "4.10867E-6" "00727" "PTEN_000147" "g.89712021G>A" "" "{PMID:Valle 2004:15169818}" "" "" "" "Germline" "" "" "0" "" "" "g.87952264G>A" "" "pathogenic" "" "0000089795" "1" "90" "10" "89692902" "89692902" "subst" "0" "00006" "PTEN_000021" "g.89692902G>A" "1/5 CWS families" "{PMID:Liaw 1997:09140396}, {OMIM601728:0001}" "BsmFI-" "" "not in 146 control chromosomes" "Germline" "yes" "rs121909218" "0" "" "" "g.87933145G>A" "" "pathogenic" "" "0000089796" "1" "90" "10" "89692902" "89692902" "subst" "0" "00006" "PTEN_000021" "g.89692902G>A" "1/5 CWS families" "{PMID:Liaw 1997:09140396}, {OMIM601728:0001}" "BsmFI-" "" "not in 146 control chromosomes" "Germline" "?" "rs121909218" "0" "" "" "g.87933145G>A" "" "pathogenic" "" "0000089797" "1" "70" "10" "89717672" "89717672" "subst" "0" "00006" "PTEN_000017" "g.89717672C>T" "1/5 CWS families" "{PMID:Liaw 1997:09140396}, {OMIM601728:0002}" "" "" "" "Germline" "yes" "rs121909219" "0" "" "" "g.87957915C>T" "" "likely pathogenic" "" "0000089798" "1" "70" "10" "89692985" "89692985" "subst" "0" "00006" "PTEN_000022" "g.89692985G>T" "1/5 CWS families" "{PMID:Liaw 1997:09140396}, {OMIM601728:0003}" "" "" "" "Germline" "yes" "rs121909220" "0" "" "" "g.87933228G>T" "" "likely pathogenic" "" "0000089799" "1" "90" "10" "89711892" "89711892" "subst" "0" "00006" "PTEN_000000" "g.89711892T>R" "" "{PMID:Marsh 1997:09241266}, {OMIM601728:0004}" "" "S170R" "not in 100 control chromosomes; paper does not specify whether variant is 510T>A or 510T>G" "Germline" "yes" "rs121909221" "0" "" "" "g.87952135T>R" "" "pathogenic" "" "0000089800" "1" "90" "10" "89717672" "89717672" "subst" "0" "00006" "PTEN_000017" "g.89717672C>T" "" "{PMID:Marsh 1997:09241266}, {OMIM601728:0002}" "" "" "not in 100 control chromosomes" "Germline" "yes" "rs121909219" "0" "" "" "g.87957915C>T" "" "pathogenic" "" "0000134747" "0" "90" "10" "89692953" "89692954" "" "0" "01788" "PTEN_000316" "g.[89692953_89692954insNC_000004.11:g.97897210_97897530;ins89692937_89692953]" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000134748" "0" "90" "10" "89692953" "89692954" "" "0" "01788" "PTEN_000317" "g.[89692953_89692954insNC_000006.11:g.74156323_74156488;ins89692937_89692953]" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000148986" "1" "50" "10" "89690828" "89690828" "subst" "0.000106134" "01816" "PTEN_000248" "g.89690828G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.87931071G>A" "" "VUS" "" "0000148987" "1" "50" "10" "89720683" "89720683" "subst" "0" "01816" "PTEN_000319" "g.89720683C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.87960926C>A" "" "VUS" "" "0000246932" "0" "10" "10" "89717788" "89717788" "subst" "4.06428E-6" "02330" "PTEN_000617" "g.89717788A>G" "" "" "" "PTEN(NM_000314.8):c.801+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87958031A>G" "" "benign" "" "0000246946" "0" "30" "10" "89692927" "89692927" "subst" "3.24965E-5" "02330" "PTEN_000614" "g.89692927A>G" "" "" "" "PTEN(NM_000314.8):c.411A>G (p.A137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933170A>G" "" "likely benign" "" "0000246952" "0" "30" "10" "89623333" "89623333" "subst" "0" "02330" "PTEN_000599" "g.89623333A>G" "" "" "" "PTEN(NM_000314.8):c.-894A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87863576A>G" "" "likely benign" "" "0000246954" "0" "90" "10" "89653831" "89653831" "del" "0" "02330" "PTEN_000608" "g.89653831del" "" "" "" "PTEN(NM_000314.8):c.129delA (p.G44Afs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87894074del" "" "pathogenic" "" "0000250339" "0" "30" "10" "89725187" "89725187" "subst" "0" "02329" "PTEN_000627" "g.89725187A>C" "" "" "" "PTEN(NM_000314.8):c.1170A>C (p.E390D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965430A>C" "" "likely benign" "" "0000250402" "0" "30" "10" "89622193" "89622193" "subst" "6.735E-6" "02329" "KLLN_000009" "g.89622193A>C" "" "" "" "KLLN(NM_001126049.1):c.52T>G (p.W18G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862436A>C" "" "likely benign" "" "0000278603" "0" "30" "10" "89622915" "89622915" "subst" "0" "02330" "KLLN_000010" "g.89622915T>C" "" "" "" "KLLN(NM_001126049.2):c.-671A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87863158T>C" "" "likely benign" "" "0000278604" "0" "50" "10" "89623031" "89623042" "del" "0" "02330" "KLLN_000011" "g.89623031_89623042del" "" "" "" "KLLN(NM_001126049.2):c.-794_-783delTGCGGCTTTTGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87863274_87863285del" "" "VUS" "" "0000278605" "0" "30" "10" "89623142" "89623142" "subst" "0" "02330" "KLLN_000012" "g.89623142C>T" "" "" "" "KLLN(NM_001126049.2):c.-898G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87863385C>T" "" "likely benign" "" "0000281830" "0" "50" "10" "89622051" "89622051" "subst" "6.72224E-6" "02325" "KLLN_000007" "g.89622051G>C" "" "" "" "KLLN(NM_001126049.2):c.194C>G (p.S65*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862294G>C" "" "VUS" "" "0000281831" "0" "10" "10" "89621863" "89621863" "subst" "0.00638412" "02325" "KLLN_000005" "g.89621863G>C" "" "" "" "KLLN(NM_001126049.1):c.382C>G (p.(Arg128Gly)), KLLN(NM_001126049.2):c.382C>G (p.R128G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862106G>C" "" "benign" "" "0000283496" "0" "50" "10" "89622115" "89622115" "subst" "0.00131121" "02329" "KLLN_000008" "g.89622115C>G" "" "" "" "KLLN(NM_001126049.1):c.130G>C (p.(Gly44Arg), p.G44R), KLLN(NM_001126049.2):c.130G>C (p.G44R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862358C>G" "" "VUS" "" "0000283497" "0" "50" "10" "89621905" "89621906" "del" "0.00142195" "02329" "KLLN_000006" "g.89621905_89621906del" "" "" "" "KLLN(NM_001126049.1):c.339_340del (p.(Ala115SerfsTer58)), KLLN(NM_001126049.1):c.339_340delAG (p.A115Sfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862148_87862149del" "" "VUS" "" "0000290418" "0" "50" "10" "89621773" "89621773" "subst" "0.000211412" "01943" "KLLN_000001" "g.89621773C>A" "" "" "" "KLLN(NM_001126049.1):c.472G>T (p.G158W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862016C>A" "" "VUS" "" "0000294554" "0" "30" "10" "89623901" "89623903" "del" "0" "02330" "PTEN_000606" "g.89623901_89623903del" "" "" "" "PTEN(NM_000314.8):c.-326_-324delGCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864144_87864146del" "" "likely benign" "" "0000294555" "0" "10" "10" "89623901" "89623901" "subst" "0" "02330" "PTEN_000312" "g.89623901G>C" "" "" "" "PTEN(NM_000314.4):c.-326G>C, PTEN(NM_000314.8):c.-326G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864144G>C" "" "benign" "" "0000294556" "0" "10" "10" "89623861" "89623861" "del" "0" "02330" "PTEN_000311" "g.89623861del" "" "" "" "PTEN(NM_000314.4):c.-366delT, PTEN(NM_000314.8):c.-366delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864104del" "" "benign" "" "0000294557" "0" "10" "10" "89623861" "89623861" "subst" "0" "02330" "PTEN_000605" "g.89623861T>C" "" "" "" "PTEN(NM_000314.8):c.-366T>C, PTEN(NM_001304717.5):c.154+1T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864104T>C" "" "benign" "" "0000294558" "0" "30" "10" "89623861" "89623864" "del" "0" "02330" "PTEN_000604" "g.89623861_89623864del" "" "" "" "PTEN(NM_000314.8):c.-366_-363delTGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864104_87864107del" "" "likely benign" "" "0000294562" "0" "10" "10" "89623716" "89623716" "subst" "0" "02330" "PTEN_000600" "g.89623716G>A" "" "" "" "PTEN(NM_000314.4):c.-510G>A, PTEN(NM_000314.8):c.-511G>A, PTEN(NM_001304717.5):c.10G>A (p.(Gly4Arg), p.G4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87863959G>A" "" "benign" "" "0000294563" "0" "50" "10" "89623383" "89623383" "subst" "0" "02330" "PTEN_000314" "g.89623383T>C" "" "" "" "PTEN(NM_000314.8):c.-844T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87863626T>C" "" "VUS" "" "0000294564" "0" "30" "10" "89623323" "89623323" "subst" "0" "02330" "PTEN_000321" "g.89623323G>A" "" "" "" "KLLN(NM_001126049.2):c.-1079C>T, PTEN(NM_000314.8):c.-904G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87863566G>A" "" "likely benign" "" "0000294565" "0" "30" "10" "89623251" "89623251" "subst" "0" "02330" "PTEN_000320" "g.89623251G>A" "" "" "" "PTEN(NM_000314.8):c.-976G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87863494G>A" "" "likely benign" "" "0000294566" "0" "30" "10" "89690794" "89690794" "subst" "7.7674E-5" "02330" "PTEN_000209" "g.89690794T>C" "" "" "" "PTEN(NM_000314.4):c.210-9T>C (p.(=)), PTEN(NM_000314.8):c.210-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87931037T>C" "" "likely benign" "" "0000294567" "0" "30" "10" "89690827" "89690827" "subst" "9.79288E-5" "02330" "PTEN_000494" "g.89690827C>T" "" "" "" "PTEN(NM_000314.4):c.234C>T (p.(Thr78=)), PTEN(NM_000314.8):c.234C>T (p.T78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87931070C>T" "" "likely benign" "" "0000294568" "0" "30" "10" "89690828" "89690828" "subst" "0.000106134" "02330" "PTEN_000248" "g.89690828G>A" "" "" "" "PTEN(NM_000314.4):c.235G>A (p.(Ala79Thr)), PTEN(NM_000314.8):c.235G>A (p.A79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87931071G>A" "" "likely benign" "" "0000294569" "0" "30" "10" "89690828" "89690828" "subst" "0" "02330" "PTEN_000611" "g.89690828G>T" "" "" "" "PTEN(NM_000314.8):c.235G>T (p.A79S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87931071G>T" "" "likely benign" "" "0000294571" "0" "10" "10" "89720647" "89720648" "del" "0" "02330" "PTEN_000621" "g.89720647_89720648del" "" "" "" "PTEN(NM_000314.8):c.802-4_802-3delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960890_87960891del" "" "benign" "" "0000294572" "0" "10" "10" "89720648" "89720648" "del" "0" "02330" "PTEN_000620" "g.89720648del" "" "" "" "PTEN(NM_000314.4):c.802-15del (p.(=)), PTEN(NM_000314.4):c.802-17delT, PTEN(NM_000314.8):c.802-3delT, PTEN(NM_001304718.2):c.211-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960891del" "" "benign" "" "0000294574" "0" "30" "10" "89720600" "89720637" "del" "0" "02330" "PTEN_000618" "g.89720600_89720637del" "" "" "" "PTEN(NM_000314.4):c.802-51_802-14del (p.(=)), PTEN(NM_000314.8):c.802-51_802-14del, PTEN(NM_000314.8):c.802-51_802-14del (None), PTEN(NM_001304718...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960843_87960880del" "" "likely benign" "" "0000297486" "0" "90" "10" "89720852" "89720852" "subst" "0" "02325" "PTEN_000018" "g.89720852C>T" "" "" "" "PTEN(NM_000314.4):c.1003C>T (p.R335*, p.(Arg335*)), PTEN(NM_000314.8):c.1003C>T (p.R335*), PTEN(NM_001304718.2):c.412C>T (p.H138Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87961095C>T" "" "pathogenic" "" "0000297487" "0" "50" "10" "89725078" "89725078" "subst" "8.33792E-5" "02325" "PTEN_000584" "g.89725078C>A" "" "" "" "PTEN(NM_000314.4):c.1061C>A (p.(Pro354Gln), p.P354Q), PTEN(NM_000314.8):c.1061C>A (p.P354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965321C>A" "" "VUS" "" "0000297488" "0" "30" "10" "89653834" "89653834" "subst" "0.00150501" "02325" "PTEN_000334" "g.89653834C>T" "" "" "" "PTEN(NM_000314.4):c.132C>T (p.G44=, p.(Gly44=)), PTEN(NM_000314.8):c.132C>T (p.G44=), PTEN(NM_001304717.5):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87894077C>T" "" "likely benign" "" "0000297489" "0" "10" "10" "89720648" "89720648" "dup" "0" "02325" "PTEN_000214" "g.89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-15_802-14insT (p.(=)), PTEN(NM_000314.4):c.802-18_802-17insT, PTEN(NM_000314.4):c.802-2dupT, PTEN(NM_000314.8):c.802-3dupT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960891dup" "" "benign" "" "0000297490" "0" "10" "10" "89720647" "89720648" "dup" "0" "02325" "PTEN_000623" "g.89720647_89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-17_802-16insTT (p.(=)), PTEN(NM_000314.4):c.802-4_802-3dupTT, PTEN(NM_000314.8):c.802-4_802-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960890_87960891dup" "" "benign" "" "0000297491" "0" "30" "10" "89720648" "89720648" "del" "0" "02325" "PTEN_000624" "g.89720648del" "" "" "" "PTEN(NM_000314.4):c.802-15del (p.(=)), PTEN(NM_000314.4):c.802-17delT, PTEN(NM_000314.8):c.802-3delT, PTEN(NM_001304718.2):c.211-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960891del" "" "likely benign" "" "0000299209" "0" "30" "10" "89725121" "89725121" "subst" "0.000443402" "02329" "PTEN_000586" "g.89725121T>C" "" "" "" "PTEN(NM_000314.8):c.1104T>C (p.D368=), PTEN(NM_001304717.5):c.1624T>C (p.F542L), PTEN(NM_001304718.2):c.513T>C (p.I171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965364T>C" "" "likely benign" "" "0000299210" "0" "30" "10" "89720646" "89720648" "del" "0" "02329" "PTEN_000622" "g.89720646_89720648del" "" "" "" "PTEN(NM_000314.8):c.802-5_802-3delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960889_87960891del" "" "likely benign" "" "0000299211" "0" "30" "10" "89720647" "89720648" "del" "0" "02329" "PTEN_000621" "g.89720647_89720648del" "" "" "" "PTEN(NM_000314.8):c.802-4_802-3delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960890_87960891del" "" "likely benign" "" "0000299212" "0" "10" "10" "89720648" "89720648" "del" "0" "02329" "PTEN_000620" "g.89720648del" "" "" "" "PTEN(NM_000314.4):c.802-15del (p.(=)), PTEN(NM_000314.4):c.802-17delT, PTEN(NM_000314.8):c.802-3delT, PTEN(NM_001304718.2):c.211-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960891del" "" "benign" "" "0000301297" "0" "10" "10" "89721094" "89721094" "subst" "0" "02326" "PTEN_000625" "g.89721094C>T" "" "" "" "PTEN(NM_000314.4):c.1026+219C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87961337C>T" "" "benign" "" "0000301298" "0" "10" "10" "89720648" "89720648" "dup" "0" "02326" "PTEN_000214" "g.89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-15_802-14insT (p.(=)), PTEN(NM_000314.4):c.802-18_802-17insT, PTEN(NM_000314.4):c.802-2dupT, PTEN(NM_000314.8):c.802-3dupT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960891dup" "" "benign" "" "0000301299" "0" "10" "10" "89720648" "89720648" "del" "0" "02326" "PTEN_000620" "g.89720648del" "" "" "" "PTEN(NM_000314.4):c.802-15del (p.(=)), PTEN(NM_000314.4):c.802-17delT, PTEN(NM_000314.8):c.802-3delT, PTEN(NM_001304718.2):c.211-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960891del" "" "benign" "" "0000306586" "0" "30" "10" "89725086" "89725086" "subst" "0" "01943" "PTEN_000626" "g.89725086C>A" "" "" "" "PTEN(NM_000314.4):c.1069C>A (p.P357T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965329C>A" "" "likely benign" "" "0000306588" "0" "70" "10" "89692792" "89692792" "subst" "0" "01943" "PTEN_000612" "g.89692792C>T" "" "" "" "PTEN(NM_000314.4):c.276C>T (p.D92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933035C>T" "" "likely pathogenic" "" "0000306589" "0" "50" "10" "89692881" "89692881" "subst" "0" "01943" "PTEN_000350" "g.89692881T>C" "" "" "" "PTEN(NM_000314.4):c.365T>C (p.I122T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933124T>C" "" "VUS" "" "0000306590" "0" "90" "10" "89720852" "89720852" "subst" "0" "01943" "PTEN_000018" "g.89720852C>T" "" "" "" "PTEN(NM_000314.4):c.1003C>T (p.R335*, p.(Arg335*)), PTEN(NM_000314.8):c.1003C>T (p.R335*), PTEN(NM_001304718.2):c.412C>T (p.H138Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87961095C>T" "" "pathogenic" "" "0000306591" "0" "50" "10" "89692976" "89692976" "subst" "0" "01943" "PTEN_000615" "g.89692976T>G" "" "" "" "PTEN(NM_000314.4):c.460T>G (p.F154V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933219T>G" "" "VUS" "" "0000306592" "0" "90" "10" "89711893" "89711893" "subst" "0" "01943" "PTEN_000259" "g.89711893C>T" "" "" "" "PTEN(NM_000314.4):c.511C>T (p.Q171*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952136C>T" "" "pathogenic" "" "0000306593" "0" "70" "10" "89711900" "89711900" "subst" "8.13213E-6" "01943" "PTEN_000196" "g.89711900G>A" "" "" "" "PTEN(NM_000314.4):c.518G>A (p.R173H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952143G>A" "" "likely pathogenic" "" "0000306595" "0" "30" "10" "89653834" "89653834" "subst" "0.00150501" "01943" "PTEN_000334" "g.89653834C>T" "" "" "" "PTEN(NM_000314.4):c.132C>T (p.G44=, p.(Gly44=)), PTEN(NM_000314.8):c.132C>T (p.G44=), PTEN(NM_001304717.5):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87894077C>T" "" "likely benign" "" "0000306596" "0" "30" "10" "89720648" "89720648" "dup" "0" "01943" "PTEN_000214" "g.89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-15_802-14insT (p.(=)), PTEN(NM_000314.4):c.802-18_802-17insT, PTEN(NM_000314.4):c.802-2dupT, PTEN(NM_000314.8):c.802-3dupT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960891dup" "" "likely benign" "" "0000306597" "0" "50" "10" "89692871" "89692871" "subst" "0" "01943" "PTEN_000613" "g.89692871G>T" "" "" "" "PTEN(NM_001304717.5):c.875G>T (p.G292V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933114G>T" "" "VUS" "" "0000321662" "0" "30" "10" "89621800" "89621800" "subst" "0.00647816" "01804" "KLLN_000002" "g.89621800A>T" "" "" "" "KLLN(NM_001126049.1):c.445T>A (p.(Trp149Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862043A>T" "" "likely benign" "" "0000321663" "0" "50" "10" "89621810" "89621810" "del" "0" "01804" "KLLN_000003" "g.89621810del" "" "" "" "KLLN(NM_001126049.1):c.438del (p.(Ala147ProfsTer35))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862053del" "" "VUS" "" "0000321664" "0" "10" "10" "89621853" "89621853" "subst" "0.00688134" "01804" "KLLN_000004" "g.89621853T>C" "" "" "" "KLLN(NM_001126049.1):c.392A>G (p.(Asn131Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862096T>C" "" "benign" "" "0000321665" "0" "10" "10" "89621863" "89621863" "subst" "0.00638412" "01804" "KLLN_000005" "g.89621863G>C" "" "" "" "KLLN(NM_001126049.1):c.382C>G (p.(Arg128Gly)), KLLN(NM_001126049.2):c.382C>G (p.R128G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87862106G>C" "" "benign" "" "0000321667" "0" "90" "10" "89692904" "89692904" "subst" "1.21875E-5" "01804" "PTEN_000013" "g.89692904C>T" "" "" "" "PTEN(NM_000314.4):c.388C>T (p.(Arg130Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933147C>T" "" "pathogenic" "" "0000321668" "0" "50" "10" "89720653" "89720653" "subst" "0" "01804" "PTEN_000695" "g.89720653C>A" "" "" "" "PTEN(NM_000314.4):c.804C>A (p.(Asp268Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960896C>A" "" "VUS" "" "0000336859" "0" "90" "10" "89725042" "89725042" "subst" "0" "02327" "PTEN_000403" "g.89725042A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965285A>C" "" "pathogenic" "" "0000338865" "0" "10" "10" "89623200" "89623200" "subst" "0" "02327" "PTEN_000322" "g.89623200C>A" "" "" "" "KLLN(NM_001126049.2):c.-956G>T, PTEN(NM_000314.8):c.-1027C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87863443C>A" "" "benign" "" "0000338866" "0" "30" "10" "89624312" "89624312" "subst" "0" "02327" "PTEN_000330" "g.89624312A>T" "" "" "" "PTEN(NM_000314.4):c.79+7A>T (p.(=)), PTEN(NM_001304718.2):c.-627+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864555A>T" "" "likely benign" "" "0000338868" "0" "90" "10" "89685269" "89685269" "subst" "0" "02327" "PTEN_000338" "g.89685269G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87925512G>A" "" "pathogenic" "" "0000338869" "0" "90" "10" "89685319" "89685319" "subst" "0" "02327" "PTEN_000036" "g.89685319G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87925562G>A" "" "pathogenic" "" "0000338870" "0" "30" "10" "89690764" "89690764" "subst" "0.00258728" "02327" "PTEN_000037" "g.89690764A>G" "" "" "" "PTEN(NM_000314.8):c.210-39A>G (None)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87931007A>G" "" "likely benign" "" "0000338872" "0" "90" "10" "89711873" "89711873" "subst" "0" "02327" "PTEN_000362" "g.89711873A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952116A>G" "" "pathogenic" "" "0000338873" "0" "90" "10" "89712020" "89712020" "subst" "0" "02327" "PTEN_000375" "g.89712020A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952263A>G" "" "pathogenic" "" "0000338874" "0" "90" "10" "89717608" "89717608" "subst" "0" "02327" "PTEN_000376" "g.89717608A>G" "" "" "" "PTEN(NM_000314.8):c.635-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87957851A>G" "" "pathogenic" "" "0000338878" "0" "90" "10" "89720649" "89720649" "subst" "0" "02327" "PTEN_000386" "g.89720649A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960892A>T" "" "pathogenic" "" "0000338879" "0" "90" "10" "89720876" "89720876" "subst" "0" "02327" "PTEN_000227" "g.89720876G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87961119G>A" "" "pathogenic" "" "0000338880" "0" "90" "10" "89720877" "89720877" "subst" "0" "02327" "PTEN_000402" "g.89720877T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87961120T>A" "" "pathogenic" "" "0000341598" "0" "30" "10" "89690828" "89690828" "subst" "0.000106134" "02327" "PTEN_000248" "g.89690828G>A" "" "" "" "PTEN(NM_000314.4):c.235G>A (p.(Ala79Thr)), PTEN(NM_000314.8):c.235G>A (p.A79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87931071G>A" "" "likely benign" "" "0000341835" "0" "90" "10" "89692904" "89692904" "subst" "1.21875E-5" "02327" "PTEN_000013" "g.89692904C>T" "" "" "" "PTEN(NM_000314.4):c.388C>T (p.(Arg130Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933147C>T" "" "pathogenic" "" "0000341840" "0" "70" "10" "89692905" "89692905" "subst" "0" "02327" "PTEN_000019" "g.89692905G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933148G>A" "" "likely pathogenic" "" "0000341841" "0" "90" "10" "89692904" "89692904" "subst" "0" "02327" "PTEN_000354" "g.89692904C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933147C>G" "" "pathogenic" "" "0000342008" "0" "90" "10" "89624271" "89624271" "subst" "0" "02327" "PTEN_000326" "g.89624271A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864514A>T" "" "pathogenic" "" "0000342009" "0" "90" "10" "89624271" "89624271" "subst" "0" "02327" "PTEN_000327" "g.89624271A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864514A>C" "" "pathogenic" "" "0000342079" "0" "90" "10" "89711899" "89711899" "subst" "0" "02327" "PTEN_000079" "g.89711899C>T" "" "" "" "PTEN(NM_000314.8):c.517C>T (p.R173C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952142C>T" "" "pathogenic" "" "0000342080" "0" "90" "10" "89711900" "89711900" "subst" "8.13213E-6" "02327" "PTEN_000196" "g.89711900G>A" "" "" "" "PTEN(NM_000314.4):c.518G>A (p.R173H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952143G>A" "" "pathogenic" "" "0000342338" "0" "90" "10" "89717672" "89717672" "subst" "0" "02327" "PTEN_000017" "g.89717672C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87957915C>T" "" "pathogenic" "" "0000342660" "0" "90" "10" "89720852" "89720852" "subst" "0" "02327" "PTEN_000018" "g.89720852C>T" "" "" "" "PTEN(NM_000314.4):c.1003C>T (p.R335*, p.(Arg335*)), PTEN(NM_000314.8):c.1003C>T (p.R335*), PTEN(NM_001304718.2):c.412C>T (p.H138Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87961095C>T" "" "pathogenic" "" "0000343774" "0" "90" "10" "89653846" "89653846" "subst" "0" "02327" "PTEN_000178" "g.89653846C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87894089C>A" "" "pathogenic" "" "0000344016" "0" "90" "10" "89624296" "89624296" "subst" "0" "02327" "PTEN_000329" "g.89624296G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864539G>T" "" "pathogenic" "" "0000344263" "0" "90" "10" "89692924" "89692924" "subst" "0" "02327" "PTEN_000358" "g.89692924T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933167T>A" "" "pathogenic" "" "0000344265" "0" "90" "10" "89692922" "89692922" "subst" "0" "02327" "PTEN_000129" "g.89692922T>C" "" "" "" "PTEN(NM_000314.8):c.406T>C (p.C136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933165T>C" "" "pathogenic" "" "0000344309" "0" "90" "10" "89712015" "89712015" "subst" "4.10098E-6" "02327" "PTEN_000086" "g.89712015C>A" "" "" "" "PTEN(NM_000314.4):c.633C>A (p.C211*), PTEN(NM_000314.8):c.633C>A (p.C211*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952258C>A" "" "pathogenic" "" "0000344452" "0" "70" "10" "89690805" "89690805" "subst" "0" "02327" "PTEN_000343" "g.89690805G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87931048G>A" "" "likely pathogenic" "" "0000344600" "0" "90" "10" "89711893" "89711893" "subst" "0" "02327" "PTEN_000366" "g.89711893C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952136C>G" "" "pathogenic" "" "0000345019" "0" "90" "10" "89692805" "89692805" "subst" "0" "02327" "PTEN_000045" "g.89692805C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933048C>T" "" "pathogenic" "" "0000345333" "0" "30" "10" "89720712" "89720712" "subst" "0" "02327" "PTEN_000390" "g.89720712A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960955A>G" "" "likely benign" "" "0000345346" "0" "90" "10" "89720768" "89720768" "subst" "0" "02327" "PTEN_000394" "g.89720768G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87961011G>T" "" "pathogenic" "" "0000345415" "0" "90" "10" "89653829" "89653829" "subst" "0" "02327" "PTEN_000333" "g.89653829G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87894072G>T" "" "pathogenic" "" "0000345698" "0" "90" "10" "89692911" "89692911" "subst" "0" "02327" "PTEN_000003" "g.89692911G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933154G>T" "" "pathogenic" "" "0000345777" "0" "70" "10" "89711876" "89711876" "subst" "0" "02327" "PTEN_000056" "g.89711876G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952119G>T" "" "likely pathogenic" "" "0000346081" "0" "10" "10" "89653834" "89653834" "subst" "0.00150501" "02327" "PTEN_000334" "g.89653834C>T" "" "" "" "PTEN(NM_000314.4):c.132C>T (p.G44=, p.(Gly44=)), PTEN(NM_000314.8):c.132C>T (p.G44=), PTEN(NM_001304717.5):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87894077C>T" "" "benign" "" "0000346366" "0" "90" "10" "89692884" "89692884" "subst" "0" "02327" "PTEN_000351" "g.89692884A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933127A>T" "" "pathogenic" "" "0000346560" "0" "90" "10" "89692881" "89692881" "subst" "0" "02327" "PTEN_000350" "g.89692881T>C" "" "" "" "PTEN(NM_000314.4):c.365T>C (p.I122T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933124T>C" "" "pathogenic" "" "0000347395" "0" "90" "10" "89692898" "89692898" "subst" "0" "02327" "PTEN_000352" "g.89692898A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933141A>G" "" "pathogenic" "" "0000347410" "0" "90" "10" "89624263" "89624263" "subst" "0" "02327" "PTEN_000324" "g.89624263A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864506A>G" "" "pathogenic" "" "0000347411" "0" "50" "10" "89624264" "89624264" "subst" "0" "02327" "PTEN_000325" "g.89624264A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864507A>T" "" "VUS" "" "0000347486" "0" "90" "10" "89717684" "89717684" "subst" "0" "02327" "PTEN_000377" "g.89717684A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87957927A>T" "" "pathogenic" "" "0000347679" "0" "90" "10" "89653805" "89653805" "subst" "0" "02327" "PTEN_000080" "g.89653805A>G" "" "" "" "PTEN(NM_000314.8):c.103A>G (p.(Met35Val), p.M35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87894048A>G" "" "pathogenic" "" "0000347960" "0" "50" "10" "89692977" "89692977" "subst" "0" "02327" "PTEN_000359" "g.89692977T>G" "" "" "" "PTEN(NM_000314.8):c.461T>G (p.F154C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933220T>G" "" "VUS" "" "0000347999" "0" "90" "10" "89717697" "89717697" "subst" "0" "02327" "PTEN_000089" "g.89717697T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87957940T>C" "" "pathogenic" "" "0000348624" "0" "90" "10" "89692800" "89692800" "subst" "0" "02327" "PTEN_000348" "g.89692800C>T" "" "" "" "PTEN(NM_000314.8):c.284C>T (p.P95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933043C>T" "" "pathogenic" "" "0000348774" "0" "90" "10" "89711892" "89711892" "subst" "0" "02327" "PTEN_000365" "g.89711892T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952135T>G" "" "pathogenic" "" "0000348775" "0" "90" "10" "89711890" "89711890" "subst" "0" "02327" "PTEN_000364" "g.89711890A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952133A>T" "" "pathogenic" "" "0000349755" "0" "90" "10" "89720669" "89720669" "subst" "0" "02327" "PTEN_000387" "g.89720669T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960912T>G" "" "pathogenic" "" "0000349930" "0" "90" "10" "89692979" "89692979" "subst" "0" "02327" "PTEN_000360" "g.89692979T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87933222T>C" "" "pathogenic" "" "0000349959" "0" "90" "10" "89711922" "89711922" "subst" "0" "02327" "PTEN_000370" "g.89711922C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952165C>A" "" "pathogenic" "" "0000350048" "0" "90" "10" "89720857" "89720857" "subst" "0" "02327" "PTEN_000399" "g.89720857C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87961100C>G" "" "pathogenic" "" "0000350110" "0" "90" "10" "89653839" "89653839" "subst" "0" "02327" "PTEN_000335" "g.89653839A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87894082A>G" "" "pathogenic" "" "0000350111" "0" "90" "10" "89653840" "89653840" "subst" "0" "02327" "PTEN_000336" "g.89653840C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87894083C>G" "" "pathogenic" "" "0000350171" "0" "90" "10" "89685309" "89685309" "subst" "0" "02327" "PTEN_000340" "g.89685309C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87925552C>G" "" "pathogenic" "" "0000350172" "0" "90" "10" "89685307" "89685307" "subst" "0" "02327" "PTEN_000121" "g.89685307T>C" "" "" "" "PTEN(NM_000314.8):c.202T>C (p.(Tyr68His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87925550T>C" "" "pathogenic" "" "0000350454" "0" "30" "10" "89720718" "89720718" "subst" "0" "02327" "PTEN_000391" "g.89720718T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87960961T>G" "" "likely benign" "" "0000350706" "0" "50" "10" "89624252" "89624252" "subst" "0" "02327" "PTEN_000323" "g.89624252T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87864495T>A" "" "VUS" "" "0000351421" "0" "90" "10" "89690847" "89690847" "subst" "0" "02327" "PTEN_000044" "g.89690847G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87931090G>T" "" "pathogenic" "" "0000351422" "0" "90" "10" "89690847" "89690847" "subst" "0" "02327" "PTEN_000346" "g.89690847G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87931090G>A" "" "pathogenic" "" "0000351424" "0" "90" "10" "89712017" "89712017" "subst" "0" "02327" "PTEN_000373" "g.89712017G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952260G>C" "" "pathogenic" "" "0000351425" "0" "90" "10" "89712017" "89712017" "subst" "0" "02327" "PTEN_000374" "g.89712017G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87952260G>A" "" "pathogenic" "" "0000351426" "0" "90" "10" "89720876" "89720876" "subst" "0" "02327" "PTEN_000401" "g.89720876G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87961119G>T" "" "pathogenic" "" "0000351427" "0" "90" "10" "89725042" "89725042" "subst" "0" "02327" "PTEN_000404" "g.89725042A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965285A>G" "" "pathogenic" "" "0000351723" "0" "90" "10" "89624275" "89624275" "subst" "0" "02378" "PTEN_000162" "g.89624275C>A" "" "{PMID:Mingo 2018:29706633}" "" "Q17E" "expression cloning in yeast and mammalian cells shows partial PIP3-phosphatase activity, nuclear location" "In vitro (cloned)" "-" "" "0" "" "" "" "" "NA" "" "0000352569" "0" "90" "10" "89624261" "89624261" "subst" "0" "02378" "PTEN_000408" "g.89624261A>T" "" "{PMID:Mingo 2018:29706633}" "" "N12I" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear/cytoplasmic location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864504A>T" "" "NA" "" "0000352570" "0" "10" "10" "89624261" "89624261" "subst" "0" "02378" "PTEN_000406" "g.89624261A>C" "" "{PMID:Mingo 2018:29706633}" "" "N12T" "expression cloning in yeast and mammalian cells shows full PIP3-phosphatase activity and nuclear/cytoplasmic location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864504A>C" "" "NA" "" "0000352571" "0" "90" "10" "89624263" "89624263" "subst" "0" "02378" "PTEN_000324" "g.89624263A>G" "" "{PMID:Mingo 2018:29706633}" "" "K13E" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and cytoplasmic location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864506A>G" "" "NA" "" "0000352572" "0" "90" "10" "89624266" "89624266" "subst" "0" "02378" "PTEN_000587" "g.89624266A>G" "" "{PMID:Mingo 2018:29706633}" "" "R14G" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear/cytoplasmic location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864509A>G" "" "NA" "" "0000352573" "0" "90" "10" "89624271" "89624271" "subst" "0" "02378" "PTEN_000326" "g.89624271A>T" "" "{PMID:Mingo 2018:29706633}" "" "R15S" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear/cytoplasmic location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864514A>T" "" "NA" "" "0000352574" "0" "10" "10" "89624272" "89624272" "subst" "0" "02378" "PTEN_000407" "g.89624272T>C" "" "{PMID:Mingo 2018:29706633}" "" "Y16H" "expression cloning in yeast and mammalian cells shows full PIP3-phosphatase activity and nuclear/cytoplasmic location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864515T>C" "" "NA" "" "0000352575" "0" "90" "10" "89624292" "89624292" "subst" "0" "02378" "PTEN_000172" "g.89624292C>G" "" "{PMID:Mingo 2018:29706633}" "" "D22E" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864535C>G" "" "NA" "" "0000352576" "0" "90" "10" "89624291" "89624291" "subst" "0" "02378" "PTEN_000589" "g.89624291A>G" "" "{PMID:Mingo 2018:29706633}" "" "D22G" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864534A>G" "" "NA" "" "0000352577" "0" "90" "10" "89624295" "89624295" "subst" "0" "02378" "PTEN_000082" "g.89624295A>C" "" "{PMID:Mingo 2018:29706633}" "" "L23F" "expression cloning in yeast and mammalian cells shows partial PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864538A>C" "" "NA" "" "0000352578" "0" "90" "10" "89624293" "89624293" "subst" "0" "02378" "PTEN_000163" "g.89624293T>G" "" "{PMID:Mingo 2018:29706633}" "" "L23V" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864536T>G" "" "NA" "" "0000352579" "0" "90" "10" "89624297" "89624297" "subst" "0" "02378" "PTEN_000175" "g.89624297A>G" "" "{PMID:Mingo 2018:29706633}" "" "D24G" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864540A>G" "" "NA" "" "0000352580" "0" "90" "10" "89624296" "89624296" "subst" "0" "02378" "PTEN_000083" "g.89624296G>C" "" "{PMID:Mingo 2018:29706633}" "" "D24H" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864539G>C" "" "NA" "" "0000352581" "0" "90" "10" "89624297" "89624297" "subst" "0" "02378" "PTEN_000596" "g.89624297A>T" "" "{PMID:Mingo 2018:29706633}" "" "D24V" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864540A>T" "" "NA" "" "0000352582" "0" "90" "10" "89624296" "89624296" "subst" "0" "02378" "PTEN_000329" "g.89624296G>T" "" "{PMID:Mingo 2018:29706633}" "" "D24Y" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864539G>T" "" "NA" "" "0000352583" "0" "90" "10" "89624301" "89624301" "subst" "0" "02378" "PTEN_000138" "g.89624301G>T" "" "{PMID:Mingo 2018:29706633}" "" "L25F" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864544G>T" "" "NA" "" "0000352584" "0" "90" "10" "89624303" "89624303" "subst" "0" "02378" "PTEN_000595" "g.89624303C>T" "" "{PMID:Mingo 2018:29706633}" "" "T26I" "expression cloning in yeast and mammalian cells shows partial PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864546C>T" "" "NA" "" "0000352586" "0" "90" "10" "89653782" "89653782" "subst" "0" "02378" "PTEN_000593" "g.89653782A>G" "" "{PMID:Mingo 2018:29706633}" "" "Y27C" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear/cytoplasmic location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87894025A>G" "" "NA" "" "0000352587" "0" "90" "10" "89624305" "89624305" "subst" "0" "02378" "PTEN_000594" "g.89624305T>A" "" "{PMID:Mingo 2018:29706633}" "" "Y27N" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear/cytoplasmic location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864548T>A" "" "NA" "" "0000352588" "0" "10" "10" "89653791" "89653791" "subst" "0" "02378" "PTEN_000592" "g.89653791C>T" "" "{PMID:Mingo 2018:29706633}" "" "P30L" "expression cloning in yeast and mammalian cells shows full PIP3-phosphatase activity and nuclear/cytoplasmic location" "In vitro (cloned)" "-" "" "0" "" "" "g.87894034C>T" "" "NA" "" "0000352589" "0" "90" "10" "89653797" "89653797" "subst" "0" "02378" "PTEN_000591" "g.89653797T>A" "" "{PMID:Mingo 2018:29706633}" "" "I32N" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear/cytoplasmic location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87894040T>A" "" "NA" "" "0000352590" "0" "50" "10" "89624281" "89624281" "subst" "0" "02378" "PTEN_000588" "g.89624281G>T" "" "personal communication" "" "" "" "In vitro (cloned)" "-" "" "0" "" "" "g.87864524G>T" "" "NA" "" "0000352716" "0" "50" "10" "89692913" "89692913" "subst" "0" "02379" "PTEN_000169" "g.89692913G>A" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.87933156G>A" "" "VUS" "" "0000352808" "0" "50" "10" "89623250" "89623250" "subst" "0" "00006" "PTEN_000431" "g.89623250C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352809" "0" "50" "10" "89623252" "89623252" "subst" "0" "00006" "PTEN_000432" "g.89623252G>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352810" "0" "50" "10" "89623252" "89623252" "subst" "0" "00006" "PTEN_000433" "g.89623252G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352811" "0" "50" "10" "89623282" "89623282" "subst" "0" "00006" "PTEN_000434" "g.89623282C>T" "" "{PMID:Nizialek 2015:25669429}" "" "(variantchecker): C not found at position 87, found G instead." "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352812" "0" "50" "10" "89623310" "89623310" "subst" "0" "00006" "PTEN_000435" "g.89623310G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352813" "0" "50" "10" "89623314" "89623314" "subst" "0" "00006" "PTEN_000436" "g.89623314T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352814" "0" "50" "10" "89623324" "89623324" "subst" "0" "00006" "PTEN_000117" "g.89623324G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352815" "0" "50" "10" "89623334" "89623334" "subst" "0" "00006" "PTEN_000438" "g.89623334C>T" "" "{PMID:Nizialek 2015:25669429}" "" "(variantchecker): C not found at position 139, found A instead." "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352816" "0" "50" "10" "89623384" "89623384" "subst" "0" "00006" "PTEN_000439" "g.89623384T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352817" "0" "50" "10" "89623387" "89623387" "subst" "0" "00006" "PTEN_000440" "g.89623387C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352818" "0" "50" "10" "89623390" "89623390" "subst" "0" "00006" "PTEN_000441" "g.89623390C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352819" "0" "50" "10" "89623392" "89623392" "subst" "0" "00006" "PTEN_000106" "g.89623392C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352820" "0" "50" "10" "89623411" "89623411" "subst" "0" "00006" "PTEN_000443" "g.89623411A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352821" "0" "50" "10" "89623421" "89623421" "subst" "0" "00006" "PTEN_000444" "g.89623421G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352822" "0" "50" "10" "89623428" "89623428" "subst" "0" "00006" "PTEN_000445" "g.89623428G>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352823" "0" "50" "10" "89623430" "89623430" "subst" "0" "00006" "PTEN_000446" "g.89623430G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352824" "0" "50" "10" "89623434" "89623434" "subst" "0" "00006" "PTEN_000447" "g.89623434C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352825" "0" "50" "10" "89623450" "89623450" "subst" "0" "00006" "PTEN_000448" "g.89623450G>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352826" "0" "50" "10" "89623485" "89623485" "subst" "0" "00006" "PTEN_000449" "g.89623485G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352827" "0" "50" "10" "89623493" "89623493" "subst" "0" "00006" "PTEN_000450" "g.89623493G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352828" "0" "50" "10" "89623527" "89623527" "subst" "0" "00006" "PTEN_000451" "g.89623527G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352829" "0" "50" "10" "89622916" "89622916" "subst" "0" "00006" "PTEN_000410" "g.89622916T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352830" "0" "50" "10" "89622985" "89622985" "subst" "0" "00006" "PTEN_000411" "g.89622985G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352831" "0" "50" "10" "89623025" "89623025" "subst" "0" "00006" "PTEN_000412" "g.89623025G>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352832" "0" "50" "10" "89623032" "89623043" "del" "0" "00006" "PTEN_000413" "g.89623032_89623043del" "" "{PMID:Nizialek 2015:25669429}" "" "-1195del12" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87863275_87863286del" "" "VUS" "" "0000352833" "0" "50" "10" "89623046" "89623046" "subst" "0" "00006" "PTEN_000414" "g.89623046G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352834" "0" "50" "10" "89623051" "89623051" "subst" "0" "00006" "PTEN_000415" "g.89623051T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352835" "0" "50" "10" "89623057" "89623057" "subst" "0" "00006" "PTEN_000416" "g.89623057C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352836" "0" "50" "10" "89623085" "89623085" "subst" "0" "00006" "PTEN_000417" "g.89623085C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87863328C>T" "" "VUS" "" "0000352837" "0" "50" "10" "89623087" "89623087" "subst" "0" "00006" "PTEN_000418" "g.89623087C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87863330C>T" "" "VUS" "" "0000352838" "0" "50" "10" "89623105" "89623105" "subst" "0" "00006" "PTEN_000419" "g.89623105C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352839" "0" "50" "10" "89623107" "89623107" "subst" "0" "00006" "PTEN_000420" "g.89623107T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352840" "0" "50" "10" "89623114" "89623114" "subst" "0" "00006" "PTEN_000421" "g.89623114T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352841" "0" "50" "10" "89623143" "89623143" "subst" "0" "00006" "PTEN_000112" "g.89623143C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352842" "0" "50" "10" "89623148" "89623148" "subst" "0" "00006" "PTEN_000423" "g.89623148C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87863391C>T" "" "VUS" "" "0000352843" "0" "50" "10" "89623151" "89623151" "subst" "0" "00006" "PTEN_000424" "g.89623151G>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352844" "0" "50" "10" "89623168" "89623168" "subst" "0" "00006" "PTEN_000425" "g.89623168C>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87863411C>G" "" "VUS" "" "0000352845" "0" "50" "10" "89623193" "89623197" "del" "0" "00006" "PTEN_000426" "g.89623193_89623197del" "" "{PMID:Nizialek 2015:25669429}" "" "-1043del5" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87863436_87863440del" "" "VUS" "" "0000352846" "0" "50" "10" "89623186" "89623186" "subst" "0" "00006" "PTEN_000427" "g.89623186C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87863429C>T" "" "VUS" "" "0000352847" "0" "50" "10" "89623194" "89623198" "dup" "0" "00006" "PTEN_000428" "g.89623194_89623198dup" "" "{PMID:Nizialek 2015:25669429}" "" "-1033_1029 dup5" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352848" "0" "50" "10" "89623194" "89623198" "del" "0" "00006" "PTEN_000429" "g.89623194_89623198del" "" "{PMID:Nizialek 2015:25669429}" "" "-1033_1029 del5" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352849" "0" "50" "10" "89690801" "89690804" "del" "0" "00006" "PTEN_000492" "g.89690801_89690804del" "" "{PMID:Nizialek 2015:25669429}" "" "210-4_210-1delTTAG" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87931044_87931047del" "" "VUS" "" "0000352850" "0" "50" "10" "89690802" "89690802" "subst" "0" "00006" "PTEN_000149" "g.89690802G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87931045G>A" "" "VUS" "" "0000352851" "0" "50" "10" "89685314" "89685314" "subst" "0" "00006" "PTEN_000005" "g.89685314T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925557T>C" "" "VUS" "" "0000352852" "0" "50" "10" "89685319" "89685319" "subst" "0" "00006" "PTEN_000036" "g.89685319G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925562G>A" "" "VUS" "" "0000352853" "0" "50" "10" "89685316" "89685316" "subst" "0" "00006" "PTEN_000490" "g.89685316T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925559T>C" "" "VUS" "" "0000352854" "0" "50" "10" "89685315" "89685315" "subst" "0" "00006" "PTEN_000489" "g.89685315G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925558G>T" "" "VUS" "" "0000352855" "0" "50" "10" "89685313" "89685313" "subst" "0" "00006" "PTEN_000487" "g.89685313C>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925556C>G" "" "VUS" "" "0000352856" "0" "50" "10" "89685309" "89685309" "subst" "0" "00006" "PTEN_000486" "g.89685309C>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925552C>A" "" "VUS" "" "0000352857" "0" "50" "10" "89685308" "89685308" "subst" "0" "00006" "PTEN_000044" "g.89685308A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925551A>G" "" "VUS" "" "0000352858" "0" "50" "10" "89685307" "89685307" "subst" "0" "00006" "PTEN_000121" "g.89685307T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925550T>C" "" "VUS" "" "0000352859" "0" "50" "10" "89685307" "89685307" "subst" "0" "00006" "PTEN_000484" "g.89685307T>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925550T>A" "" "VUS" "" "0000352860" "0" "50" "10" "89685300" "89685301" "ins" "0" "00006" "PTEN_000483" "g.89685300_89685301insT" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925543_87925544insT" "" "VUS" "" "0000352861" "0" "50" "10" "89685292" "89685293" "dup" "0" "00006" "PTEN_000482" "g.89685292_89685293dup" "" "{PMID:Nizialek 2015:25669429}" "" "188_189insAA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925535_87925536dup" "" "VUS" "" "0000352862" "0" "50" "10" "89685287" "89685287" "subst" "0" "00006" "PTEN_000481" "g.89685287A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925530A>G" "" "VUS" "" "0000352863" "0" "50" "10" "89685286" "89685286" "subst" "0" "00006" "PTEN_000480" "g.89685286C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925529C>T" "" "VUS" "" "0000352864" "0" "50" "10" "89624247" "89624248" "del" "0" "00006" "PTEN_000458" "g.89624247_89624248del" "" "{PMID:Nizialek 2015:25669429}" "" "18_19delAG" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864490_87864491del" "" "VUS" "" "0000352865" "0" "50" "10" "89685268" "89685268" "subst" "0" "00006" "PTEN_000148" "g.89685268A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87925511A>G" "" "VUS" "" "0000352866" "0" "50" "10" "89685269" "89693009" "del" "0" "00006" "PTEN_000479" "g.(89653867_89685269)_(89693009_89711874)del" "" "{PMID:Nizialek 2015:25669429}" "" "c.165-?_492+?del" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352867" "0" "50" "10" "89653867" "89653867" "subst" "0" "00006" "PTEN_000476" "g.89653867G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894110G>T" "" "VUS" "" "0000352868" "0" "50" "10" "89653867" "89685269" "del" "0" "00006" "PTEN_000477" "g.(89653867_89685269)del" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352869" "0" "50" "10" "89653859" "89653859" "subst" "0" "00006" "PTEN_000475" "g.89653859G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894102G>A" "" "VUS" "" "0000352870" "0" "50" "10" "89653852" "89653852" "del" "0" "00006" "PTEN_000474" "g.89653852del" "" "{PMID:Nizialek 2015:25669429}" "" "150delT" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894095del" "" "VUS" "" "0000352871" "0" "50" "10" "89653846" "89653846" "subst" "0" "00006" "PTEN_000178" "g.89653846C>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894089C>A" "" "VUS" "" "0000352872" "0" "50" "10" "89653843" "89653843" "del" "0" "00006" "PTEN_000194" "g.89653843del" "" "{PMID:Nizialek 2015:25669429}" "" "141delG" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894086del" "" "VUS" "" "0000352873" "0" "50" "10" "89653834" "89653834" "subst" "0.00150501" "00006" "PTEN_000334" "g.89653834C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894077C>T" "" "VUS" "" "0000352874" "0" "50" "10" "89653829" "89653829" "subst" "0" "00006" "PTEN_000472" "g.89653829G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894072G>A" "" "VUS" "" "0000352875" "0" "50" "10" "89653817" "89653817" "subst" "0" "00006" "PTEN_000471" "g.89653817G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894060G>A" "" "VUS" "" "0000352876" "0" "50" "10" "89725121" "89725121" "subst" "0.000443402" "00006" "PTEN_000586" "g.89725121T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87965364T>C" "" "VUS" "" "0000352877" "0" "50" "10" "89653808" "89653808" "subst" "0" "00006" "PTEN_000040" "g.89653808G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894051G>A" "" "VUS" "" "0000352878" "0" "50" "10" "89725083" "89725083" "subst" "4.16188E-6" "00006" "PTEN_000585" "g.89725083A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87965326A>G" "" "VUS" "" "0000352879" "0" "50" "10" "89725078" "89725078" "subst" "8.33792E-5" "00006" "PTEN_000584" "g.89725078C>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87965321C>A" "" "VUS" "" "0000352880" "0" "50" "10" "89653805" "89653805" "subst" "0" "00006" "PTEN_000080" "g.89653805A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894048A>G" "" "VUS" "" "0000352881" "0" "50" "10" "89725050" "89725050" "subst" "0" "00006" "PTEN_000103" "g.89725050C>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87965293C>G" "" "VUS" "" "0000352882" "0" "50" "10" "89725042" "89725042" "subst" "0" "00006" "PTEN_000403" "g.89725042A>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87965285A>C" "" "VUS" "" "0000352883" "0" "50" "10" "89720876" "89720876" "subst" "0" "00006" "PTEN_000582" "g.89720876G>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961119G>C" "" "VUS" "" "0000352884" "0" "50" "10" "89720876" "89720876" "subst" "0" "00006" "PTEN_000227" "g.89720876G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961119G>A" "" "VUS" "" "0000352885" "0" "50" "10" "89720868" "89720868" "del" "0" "00006" "PTEN_000581" "g.89720868del" "" "{PMID:Nizialek 2015:25669429}" "" "1019delA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961111del" "" "VUS" "" "0000352886" "0" "50" "10" "89720852" "89720852" "subst" "0" "00006" "PTEN_000018" "g.89720852C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961095C>T" "" "VUS" "" "0000352887" "0" "50" "10" "89624226" "89624306" "del" "0" "00006" "PTEN_000453" "g.(?_89624226)_(89624306_89653781)del" "" "{PMID:Nizialek 2015:25669429}" "" "c.1-?_79+?del" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352888" "0" "50" "10" "89624226" "89653867" "del" "0" "00006" "PTEN_000455" "g.(?_89624226)_(89653867_89685269)del" "" "{PMID:Nizialek 2015:25669429}" "" "c.1-?_164+?del" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352889" "0" "50" "10" "89624226" "89725230" "del" "0" "00006" "PTEN_000456" "g.(?_89624226)_(89725230_?)del" "" "{PMID:Nizialek 2015:25669429}" "" "c.1-?_1212+?del" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352890" "0" "50" "10" "89624218" "89624218" "subst" "0.00361813" "00006" "PTEN_000023" "g.89624218C>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864461C>G" "" "VUS" "" "0000352891" "0" "50" "10" "89624226" "89624306" "dup" "0" "00006" "PTEN_000454" "g.(?_89624226)_(89624306_89653781)dup" "" "{PMID:Nizialek 2015:25669429}" "" "c.1-?_79+?dup" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352892" "0" "50" "10" "89692938" "89692938" "subst" "0" "00006" "PTEN_000136" "g.89692938A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933181A>G" "" "VUS" "" "0000352893" "0" "50" "10" "89692936" "89692936" "dup" "0" "00006" "PTEN_000521" "g.89692936dup" "" "{PMID:Nizialek 2015:25669429}" "" "420_421insA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" 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"PTEN_000460" "g.89624265_89624267del" "" "{PMID:Nizialek 2015:25669429}" "" "39_41delAAG" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864508_87864510del" "" "VUS" "" "0000352903" "0" "50" "10" "89692905" "89692905" "subst" "0" "00006" "PTEN_000055" "g.89692905G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933148G>T" "" "VUS" "" "0000352904" "0" "50" "10" "89692905" "89692905" "subst" "0" "00006" "PTEN_000019" "g.89692905G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933148G>A" "" "VUS" "" "0000352905" "0" "50" "10" "89692904" "89692904" "subst" "1.21875E-5" "00006" "PTEN_000013" "g.89692904C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933147C>T" "" "VUS" "" "0000352906" "0" "50" "10" "89692904" "89692904" "subst" "0" "00006" "PTEN_000354" "g.89692904C>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933147C>G" "" "VUS" "" "0000352907" "0" "50" "10" "89692902" "89692902" "subst" "0" "00006" "PTEN_000021" "g.89692902G>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933145G>A" "" "VUS" "" "0000352908" "0" "50" "10" "89692900" "89692900" "subst" "0" "00006" "PTEN_000513" "g.89692900G>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933143G>C" "" "VUS" "" "0000352909" "0" "50" "10" "89692898" "89692898" "subst" "0" "00006" "PTEN_000352" "g.89692898A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933141A>G" "" "VUS" "" "0000352910" "0" "50" "10" "89692892" "89692892" "subst" "0" "00006" "PTEN_000512" "g.89692892G>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden 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"{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933223A>G" "" "VUS" "" "0000352973" "0" "50" "10" "89692977" "89692977" "del" "0" "00006" "PTEN_000526" "g.89692977del" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933220del" "" "VUS" "" "0000352974" "0" "50" "10" "89624271" "89624274" "delins" "0" "00006" "PTEN_000000" "g.89624271_89624274delinsN[20]" "" "{PMID:Nizialek 2015:25669429}" "" "45_48delins(20)" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352975" "0" "50" "10" "89692964" "89692964" "subst" "0" "00006" "PTEN_000525" "g.89692964G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933207G>T" "" "VUS" "" "0000352976" "0" "50" "10" "89692957" "89692958" "delins" "0" "00006" "PTEN_000212" "g.89692957_89692958delinsA" "" "{PMID:Nizialek 2015:25669429}" "" "441_442delGGinsA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933200_87933201delinsA" "" "VUS" "" "0000352977" "0" "50" "10" "89692940" "89692940" "subst" "4.0624E-6" "00006" "PTEN_000523" "g.89692940C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87933183C>T" "" "VUS" "" "0000352978" "0" "50" "10" "89623201" "89623201" "subst" "0" "00006" "PTEN_000113" "g.89623201C>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352979" "0" "50" "10" "89720836" "89720839" "del" "0" "00006" "PTEN_000215" "g.89720836_89720839del" "" "{PMID:Nizialek 2015:25669429}" "" "987_990del4" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961079_87961082del" "" "VUS" "" "0000352980" "0" "50" "10" "89720817" "89720817" "del" "0" "00006" "PTEN_000237" "g.89720817del" "" "{PMID:Nizialek 2015:25669429}" "" "968delA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961060del" "" "VUS" "" "0000352981" "0" "50" "10" "89720815" "89720816" "delins" "0" "00006" "PTEN_000578" "g.89720815_89720816delinsG" "" "{PMID:Nizialek 2015:25669429}" "" "966_968delAAAinsGA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961058_87961059delinsG" "" "VUS" "" "0000352982" "0" "50" "10" "89720836" "89720839" "del" "0" "00006" "PTEN_000215" "g.89720836_89720839del" "" "{PMID:Nizialek 2015:25669429}" "" "987_990del4" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961079_87961082del" "" "VUS" "" "0000352983" "0" "50" "10" "89720805" "89720808" "del" "0" "00006" "PTEN_000301" "g.89720805_89720808del" "" "{PMID:Nizialek 2015:25669429}" "" "956_959delCTTT" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961048_87961051del" "" "VUS" "" "0000352984" "0" "50" "10" "89720768" "89720768" "subst" "0" "00006" "PTEN_000394" "g.89720768G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87961011G>T" "" "VUS" "" "0000352985" "0" "50" "10" "89720741" "89720741" "subst" "0" "00006" "PTEN_000171" "g.89720741C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87960984C>T" "" "VUS" "" "0000352986" "0" "50" "10" "89720735" "89720735" "del" "0" "00006" "PTEN_000576" "g.89720735del" "" "{PMID:Nizialek 2015:25669429}" "" "886delT" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87960978del" "" "VUS" "" "0000352987" "0" "50" "10" "89720734" "89720735" "dup" "0" "00006" "PTEN_000575" "g.89720734_89720735dup" "" "{PMID:Nizialek 2015:25669429}" "" "885_886insTA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87960977_87960978dup" "" "VUS" "" "0000352988" "0" "50" "10" "89720733" "89720733" "del" "0" "00006" "PTEN_000573" "g.89720733del" "" "{PMID:Nizialek 2015:25669429}" "" "884delT" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87960976del" "" "VUS" "" "0000352989" "0" "50" "10" "89720733" "89720733" "dup" "0" "00006" "PTEN_000574" "g.89720733dup" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87960976dup" "" "VUS" "" "0000352990" "0" "50" "10" "89720719" "89720719" "del" "0" "00006" "PTEN_000572" "g.89720719del" "" "{PMID:Nizialek 2015:25669429}" "" "870delA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87960962del" "" "VUS" "" "0000352991" "0" "50" "10" "89720717" "89720723" "del" "0" "00006" "PTEN_000571" "g.89720717_89720723del" "" "{PMID:Nizialek 2015:25669429}" "" "865_871delAAAGTAG" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87960960_87960966del" "" "VUS" "" "0000352992" "0" "50" "10" "89720663" "89720663" "del" "0" "00006" "PTEN_000570" "g.89720663del" "" "{PMID:Nizialek 2015:25669429}" "" "814delC" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87960906del" "" "VUS" "" "0000352993" "0" "50" "10" "89720649" "89720649" "subst" "0" "00006" "PTEN_000386" "g.89720649A>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87960892A>T" "" "VUS" "" "0000352994" "0" "50" "10" "89720650" "89720876" "del" "0" "00006" "PTEN_000569" "g.(89717777_89720650)_(89720876_89725043)del" "" "{PMID:Nizialek 2015:25669429}" "" "c.802-?_1026+?del" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352995" "0" "50" "10" "89717775" "89717775" "dup" "0" "00006" "PTEN_000219" "g.89717775dup" "" "{PMID:Nizialek 2015:25669429}" "" "800dupA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87958018dup" "" "VUS" "" "0000352996" "0" "50" "10" "89717775" "89717775" "del" "0" "00006" "PTEN_000195" "g.89717775del" "" "{PMID:Nizialek 2015:25669429}" "" "800delA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87958018del" "" "VUS" "" "0000352997" "0" "50" "10" "89653779" "89653779" "subst" "0" "00006" "PTEN_000467" "g.89653779C>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87894022C>G" "" "VUS" "" "0000352998" "0" "50" "10" "89653781" "89653867" "del" "0" "00006" "PTEN_000468" "g.(89624306_89653781)_(89653867_89685269)del" "" "{PMID:Nizialek 2015:25669429}" "" "c.80-?_164+?del" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000352999" "0" "50" "10" "89653781" "89725230" "del" "0" "00006" "PTEN_000469" "g.(89624306_89653781)_(89725230_?)del" "" "{PMID:Nizialek 2015:25669429}" "" "c.80-?_1212+?del" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000353000" "0" "50" "10" "89624312" "89624312" "subst" "1.21817E-5" "00006" "PTEN_000466" "g.89624312A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864555A>G" "" "VUS" "" "0000353001" "0" "50" "10" "89624302" "89624302" "subst" "0" "00006" "PTEN_000465" "g.89624302A>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864545A>C" "" "VUS" "" "0000353002" "0" "50" "10" "89717736" "89717736" "subst" "0" "00006" "PTEN_000566" "g.89717736A>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957979A>C" "" "VUS" "" "0000353003" "0" "50" "10" "89624301" "89624301" "subst" "0" "00006" "PTEN_000138" "g.89624301G>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864544G>T" "" "VUS" "" "0000353004" "0" "50" "10" "89717730" "89717730" "subst" "0" "00006" "PTEN_000565" "g.89717730A>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957973A>T" "" "VUS" "" "0000353005" "0" "50" "10" "89717726" "89717727" "del" "0" "00006" "PTEN_000564" "g.89717726_89717727del" "" "{PMID:Nizialek 2015:25669429}" "" "751_752del2" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957969_87957970del" "" "VUS" "" "0000353006" "0" "50" "10" "89717725" "89717726" "del" "0" "00006" "PTEN_000563" "g.89717725_89717726del" "" "{PMID:Nizialek 2015:25669429}" "" "750_751delTG" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957968_87957969del" "" "VUS" "" "0000353007" "0" "50" "10" "89717712" "89717712" "subst" "0" "00006" "PTEN_000130" "g.89717712C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957955C>T" "" "VUS" "" "0000353008" "0" "50" "10" "89717709" "89717712" "del" "0" "00006" "PTEN_000561" "g.89717709_89717712del" "" "{PMID:Nizialek 2015:25669429}" "" "734_737del4" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957952_87957955del" "" "VUS" "" "0000353009" "0" "50" "10" "89717695" "89717695" "subst" "0" "00006" "PTEN_000560" "g.89717695C>A" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957938C>A" "" "VUS" "" "0000353010" "0" "50" "10" "89624298" "89624299" "ins" "0" "00006" "PTEN_000464" "g.89624298_89624299insAGA" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864541_87864542insAGA" "" "VUS" "" "0000353011" "0" "50" "10" "89624297" "89624297" "subst" "0" "00006" "PTEN_000175" "g.89624297A>G" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864540A>G" "" "VUS" "" "0000353012" "0" "50" "10" "89717691" "89717691" "subst" "4.06144E-6" "00006" "PTEN_000559" "g.89717691T>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957934T>C" "" "VUS" "" "0000353013" "0" "50" "10" "89624296" "89624296" "subst" "0" "00006" "PTEN_000083" "g.89624296G>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864539G>C" "" "VUS" "" "0000353014" "0" "50" "10" "89624295" "89624295" "subst" "0" "00006" "PTEN_000082" "g.89624295A>C" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87864538A>C" "" "VUS" "" "0000353015" "0" "50" "10" "89717672" "89717672" "subst" "0" "00006" "PTEN_000017" "g.89717672C>T" "" "{PMID:Nizialek 2015:25669429}" "" "" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957915C>T" "" "VUS" "" "0000353016" "0" "50" "10" "89717671" "89717671" "dup" "0" "00006" "PTEN_000558" "g.89717671dup" "" "{PMID:Nizialek 2015:25669429}" "" "696dupA" "analysis 1202 cases Cowden Syndrome" "Germline" "" "" "0" "" "" "g.87957914dup" "" "VUS" "" "0000353741" "0" "50" "10" "89692921" "89692921" "subst" "0" "02379" "PTEN_000048" "g.89692921A>T" "" "" "" "" "" "Somatic" "?" "" "0" "" "" "g.87933164A>T" "" "VUS" "" "0000353742" "0" "50" "10" "89692923" "89692923" "subst" "0" "02379" "PTEN_000049" "g.89692923G>A" "" "" "" "" "" "Somatic" "?" "" "0" "" "" "g.87933166G>A" "" "VUS" "" "0000369609" "0" "90" "10" "89685281" "89685281" "subst" "0" "02509" "PTEN_000098" "g.89685281C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.87925524C>A" "" "pathogenic" "" "0000379127" "0" "90" "10" "89717712" "89717712" "subst" "0" "02537" "PTEN_000130" "g.89717712C>T" "" "{PMID:Du 2018:30555518}" "" "" "" "De novo" "" "" "0" "" "" "g.87957955C>T" "" "pathogenic" "" "0000395158" "0" "90" "10" "89692908" "89692908" "dup" "0" "01807" "PTEN_000630" "g.89692908dup" "" "" "" "392dupC" "" "Unknown" "" "" "0" "" "" "g.87933151dup" "" "pathogenic" "" "0000401592" "1" "90" "8" "89624246" "89624246" "subst" "0" "01714" "PTEN_000668" "g.89624246del" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.88612017del" "" "pathogenic" "" "0000401593" "1" "50" "10" "89624248" "89624248" "del" "0" "01714" "PTEN_000634" "g.89624248A>G" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87864491A>G" "" "VUS" "" "0000401594" "1" "50" "10" "89624286" "89624286" "subst" "0" "01714" "PTEN_000635" "g.89624286A>T" "2/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "" "0" "" "" "g.87864529A>T" "" "VUS" "" "0000401595" "1" "50" "10" "89624298" "89624298" "subst" "0" "01714" "PTEN_000636" "g.89624298C>T" "1/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "" "0" "" "" "g.87864541C>T" "" "VUS" "" "0000401596" "1" "50" "10" "89624304" "89624304" "subst" "0" "01714" "PTEN_000637" "g.89624304C>T" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "rs786201280" "0" "" "" "g.87864547C>T" "" "VUS" "" "0000401597" "1" "10" "10" "89653834" "89653834" "subst" "0.00150501" "01714" "PTEN_000334" "g.89653834C>T" "3/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs150651961" "0" "" "" "g.87894077C>T" "" "benign" "" "0000401598" "1" "10" "10" "89653834" "89653834" "subst" "0.00150501" "01714" "PTEN_000334" "g.89653834C>T" "2/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs150651961" "0" "" "" "g.87894077C>T" "" "benign" "" "0000401599" "1" "50" "10" "89653835" "89653835" "subst" "0" "01714" "PTEN_000632" "g.89653835G>T" "1/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "" "0" "" "" "g.87894078G>T" "" "VUS" "" "0000401600" "1" "90" "10" "89685308" "89685308" "subst" "0" "01714" "PTEN_000044" "g.89685308A>G" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87925551A>G" "" "pathogenic" "" "0000401601" "1" "10" "10" "89690827" "89690827" "subst" "9.79288E-5" "01714" "PTEN_000494" "g.89690827C>T" "3/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs35917308" "0" "" "" "g.87931070C>T" "" "benign" "" "0000401602" "1" "10" "10" "89690827" "89690827" "subst" "9.79288E-5" "01714" "PTEN_000494" "g.89690827C>T" "2/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs35917308" "0" "" "" "g.87931070C>T" "" "benign" "" "0000401603" "1" "50" "10" "89690828" "89690828" "subst" "0.000106134" "01714" "PTEN_000248" "g.89690828G>A" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "rs202004587" "0" "" "" "g.87931071G>A" "" "VUS" "" "0000401604" "1" "50" "10" "89692880" "89692880" "subst" "0" "01714" "PTEN_000640" "g.89692880A>G" "1/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "rs786202740" "0" "" "" "g.87933123A>G" "" "VUS" "" "0000401605" "1" "90" "10" "89692887" "89692887" "subst" "0" "01714" "PTEN_000643" "g.89692887G>C" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87933130G>C" "" "pathogenic" "" "0000401606" "1" "90" "10" "89692904" "89692904" "subst" "1.21875E-5" "01714" "PTEN_000013" "g.89692904C>T" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "rs121909224" "0" "" "" "g.87933147C>T" "" "pathogenic" "" "0000401607" "1" "90" "10" "89692980" "89692980" "subst" "0" "01714" "PTEN_000094" "g.89692980A>G" "1/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "" "0" "" "" "g.87933223A>G" "" "pathogenic" "" "0000401608" "1" "90" "10" "89711873" "89711873" "subst" "0" "01714" "PTEN_000362" "g.89711873A>G" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "rs587781784" "0" "" "" "g.87952116A>G" "" "pathogenic" "" "0000401609" "1" "90" "10" "89711874" "89711874" "subst" "0" "01714" "PTEN_000645" "g.89711874G>C" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87952117G>C" "" "pathogenic" "" "0000401610" "1" "50" "10" "89711905" "89711905" "subst" "0" "01714" "PTEN_000646" "g.89711905G>T" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87952148G>T" "" "VUS" "" "0000401611" "1" "50" "10" "89711995" "89711995" "subst" "1.22342E-5" "01714" "PTEN_000549" "g.89711995A>G" "1/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "rs776763121" "0" "" "" "g.87952238A>G" "" "VUS" "" "0000401612" "1" "50" "10" "89712007" "89712007" "subst" "0" "01714" "PTEN_000647" "g.89712007G>A" "4/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "rs765433422" "0" "" "" "g.87952250G>A" "" "VUS" "" "0000401613" "1" "50" "10" "89717681" "89717681" "subst" "0" "01714" "PTEN_000648" "g.89717681G>C" "1/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "" "0" "" "" "g.87957924G>C" "" "VUS" "" "0000401614" "1" "10" "10" "89717698" "89717698" "subst" "8.12255E-6" "01714" "PTEN_000193" "g.89717698T>C" "4/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs17849090" "0" "" "" "g.87957941T>C" "" "benign" "" "0000401615" "1" "10" "10" "89717698" "89717698" "subst" "8.12255E-6" "01714" "PTEN_000193" "g.89717698T>C" "8/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs17849090" "0" "" "" "g.87957941T>C" "" "benign" "" "0000401616" "1" "10" "10" "89717713" "89717713" "subst" "1.62464E-5" "01714" "PTEN_000651" "g.89717713G>A" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "rs774364894" "0" "" "" "g.87957956G>A" "" "benign" "" "0000401617" "1" "90" "10" "89717725" "89717725" "subst" "0" "01714" "PTEN_000652" "g.89717725T>A" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87957968T>A" "" "pathogenic" "" "0000401618" "1" "90" "10" "89720679" "89720679" "subst" "0" "01714" "PTEN_000653" "g.89720679del" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87960922del" "" "pathogenic" "" "0000401619" "1" "50" "10" "89720698" "89720698" "del" "0" "01714" "PTEN_000654" "g.89720698A>G" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87960941A>G" "" "VUS" "" "0000401620" "1" "50" "10" "89720708" "89720708" "subst" "0" "01714" "PTEN_000071" "g.89720708T>C" "2/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87960951T>C" "" "VUS" "" "0000401621" "1" "50" "10" "89720708" "89720708" "subst" "0" "01714" "PTEN_000071" "g.89720708T>C" "3/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87960951T>C" "" "VUS" "" "0000401622" "1" "50" "10" "89720769" "89720769" "subst" "0" "01714" "PTEN_000656" "g.89720769A>G" "7/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "" "0" "" "" "g.87961012A>G" "" "VUS" "" "0000401623" "1" "50" "10" "89720789" "89720789" "subst" "0" "01714" "PTEN_000658" "g.89720789G>A" "1/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "" "0" "" "" "g.87961032G>A" "" "VUS" "" "0000401624" "1" "50" "10" "89720797" "89720797" "subst" "4.06441E-6" "01714" "PTEN_000661" "g.89720797A>G" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs775997892" "0" "" "" "g.87961040A>G" "" "VUS" "" "0000401625" "1" "50" "10" "89720797" "89720797" "subst" "4.06441E-6" "01714" "PTEN_000661" "g.89720797A>G" "3/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs775997892" "0" "" "" "g.87961040A>G" "" "VUS" "" "0000401626" "1" "90" "10" "89720804" "89720804" "subst" "0" "01714" "PTEN_000229" "g.89720804dup" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "rs786204892" "0" "" "" "g.87961047dup" "" "pathogenic" "" "0000401627" "1" "50" "10" "89720821" "89720821" "dup" "0" "01714" "PTEN_000662" "g.89720821T>C" "1/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "" "0" "" "" "g.87961064T>C" "" "VUS" "" "0000401628" "1" "90" "10" "89720852" "89720852" "subst" "0" "01714" "PTEN_000663" "g.89720852del" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87961095del" "" "pathogenic" "" "0000401629" "1" "90" "10" "89720852" "89720852" "del" "0" "01714" "PTEN_000018" "g.89720852C>T" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "rs121909231" "0" "" "" "g.87961095C>T" "" "pathogenic" "" "0000401630" "1" "50" "10" "89725091" "89725091" "subst" "0" "01714" "PTEN_000664" "g.89725091G>A" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87965334G>A" "" "VUS" "" "0000401631" "1" "50" "10" "89725130" "89725130" "subst" "0" "01714" "PTEN_000666" "g.89725130C>G" "1/7051 cases breast cancer" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 11241 controls" "Germline" "" "" "0" "" "" "g.87965373C>G" "" "VUS" "" "0000401632" "1" "50" "10" "89725203" "89725203" "subst" "0" "01714" "PTEN_000667" "g.89725203C>G" "2/11241 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "not in 7051 cases breast cancer" "Germline" "" "" "0" "" "" "g.87965446C>G" "" "VUS" "" "0000404874" "0" "90" "10" "89717723" "89717726" "dup" "0" "01807" "PTEN_000629" "g.89717723_89717726dup" "" "" "" "748_751dupTGTG" "" "Unknown" "" "" "0" "" "" "g.87957966_87957969dup" "" "pathogenic" "" "0000405594" "0" "90" "10" "89624302" "89624302" "subst" "0" "02378" "PTEN_000465" "g.89624302A>C" "" "{PMID:Mingo 2018:29706633}" "" "T26P" "expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively" "In vitro (cloned)" "-" "" "0" "" "" "g.87864545A>C" "" "NA" "" "0000406552" "1" "50" "10" "89624243" "89624243" "subst" "0" "01714" "PTEN_000633" "g.89624243A>G" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87864486A>G" "" "VUS" "" "0000406553" "1" "50" "10" "89624298" "89624298" "subst" "0" "01714" "PTEN_000636" "g.89624298C>T" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87864541C>T" "" "VUS" "" "0000406554" "1" "50" "10" "89653787" "89653787" "subst" "0" "01714" "PTEN_000631" "g.89653787T>C" "1/12392 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87894030T>C" "" "VUS" "" "0000406555" "1" "10" "10" "89653834" "89653834" "subst" "0.00150501" "01714" "PTEN_000334" "g.89653834C>T" "4/12487 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs150651961" "0" "" "" "g.87894077C>T" "" "benign" "" "0000406556" "1" "50" "10" "89685270" "89685270" "subst" "0" "01714" "PTEN_000638" "g.89685270G>T" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87925513G>T" "" "VUS" "" "0000406557" "1" "50" "10" "89690826" "89690826" "subst" "0" "01714" "PTEN_000639" "g.89690826C>G" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87931069C>G" "" "VUS" "" "0000406558" "1" "10" "10" "89690827" "89690827" "subst" "9.79288E-5" "01714" "PTEN_000494" "g.89690827C>T" "3/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs35917308" "0" "" "" "g.87931070C>T" "" "benign" "" "0000406559" "1" "90" "10" "89692768" "89692769" "del" "0" "01714" "PTEN_000641" "g.89692768_89692769del" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87933011_87933012del" "" "pathogenic" "" "0000406560" "1" "50" "10" "89692825" "89692825" "subst" "0" "01714" "PTEN_000642" "g.89692825C>G" "2/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87933068C>G" "" "VUS" "" "0000406561" "1" "90" "10" "89692886" "89692886" "dup" "0" "01714" "PTEN_000644" "g.89692886dup" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87933129dup" "" "pathogenic" "" "0000406562" "1" "50" "10" "89692913" "89692913" "subst" "0" "01714" "PTEN_000169" "g.89692913G>A" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87933156G>A" "" "VUS" "" "0000406563" "1" "50" "10" "89712007" "89712007" "subst" "0" "01714" "PTEN_000647" "g.89712007G>A" "3/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs765433422" "0" "" "" "g.87952250G>A" "" "VUS" "" "0000406564" "1" "90" "10" "89717676" "89717676" "subst" "0" "01714" "PTEN_000649" "g.89717676G>A" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs121909235" "0" "" "" "g.87957919G>A" "" "pathogenic" "" "0000406565" "1" "10" "10" "89717698" "89717698" "subst" "8.12255E-6" "01714" "PTEN_000193" "g.89717698T>C" "11/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs17849090" "0" "" "" "g.87957941T>C" "" "benign" "" "0000406566" "1" "10" "10" "89717713" "89717713" "subst" "1.62464E-5" "01714" "PTEN_000651" "g.89717713G>A" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs774364894" "0" "" "" "g.87957956G>A" "" "benign" "" "0000406567" "1" "50" "10" "89720708" "89720708" "subst" "0" "01714" "PTEN_000071" "g.89720708T>C" "8/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87960951T>C" "" "VUS" "" "0000406568" "1" "10" "10" "89720749" "89720749" "subst" "1.21948E-5" "01714" "PTEN_000657" "g.89720749C>T" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs550122918" "0" "" "" "g.87960992C>T" "" "benign" "" "0000406569" "1" "50" "10" "89720769" "89720769" "subst" "0" "01714" "PTEN_000656" "g.89720769A>G" "12/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87961012A>G" "" "VUS" "" "0000406570" "1" "50" "10" "89720772" "89720772" "subst" "8.12916E-6" "01714" "PTEN_000659" "g.89720772G>A" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs786201507" "0" "" "" "g.87961015G>A" "" "VUS" "" "0000406571" "1" "50" "10" "89720775" "89720775" "subst" "0" "01714" "PTEN_000660" "g.89720775C>T" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87961018C>T" "" "VUS" "" "0000406572" "1" "50" "10" "89720797" "89720797" "subst" "4.06441E-6" "01714" "PTEN_000661" "g.89720797A>G" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "rs775997892" "0" "" "" "g.87961040A>G" "" "VUS" "" "0000406573" "1" "50" "10" "89725068" "89725068" "subst" "0" "01714" "PTEN_000665" "g.89725068G>A" "1/12490 controls" "{PMID:Momozawa 2018:30287823}, {DOI:Momozawa 2018:10.1038/s41467-018-06581-8}" "" "" "" "Germline" "" "" "0" "" "" "g.87965311G>A" "" "VUS" "" "0000408016" "0" "70" "10" "89711894" "89711895" "ins" "0" "02589" "PTEN_000669" "g.89711894_89711895insACA" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.87952137_87952138insACA" "" "likely pathogenic" "" "0000408629" "0" "70" "10" "89653842" "89653868" "dup" "0" "02940" "PTEN_000151" "g.89653842_89653868dup" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.87894085_87894111dup" "" "likely pathogenic" "" "0000408630" "0" "70" "10" "89725143" "89725144" "ins" "0" "02940" "PTEN_000152" "g.89725143_89725144insTAATT" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.87965386_87965387insTAATT" "" "likely pathogenic" "" "0000408631" "0" "50" "10" "89720617" "89720617" "subst" "0" "02940" "PTEN_000155" "g.89720617C>A" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.87960860C>A" "" "VUS" "" "0000408632" "0" "90" "10" "89624243" "89624246" "del" "0" "02940" "PTEN_000004" "g.89624243_89624246del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.87864486_87864489del" "" "pathogenic" "" "0000408633" "0" "90" "10" "89717715" "89717716" "del" "0" "02940" "PTEN_000156" "g.89717715_89717716del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.87957958_87957959del" "" "pathogenic" "" "0000408634" "0" "70" "10" "89731501" "89731501" "subst" "0" "02940" "PTEN_000157" "g.89731501G>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "missense variants or in frame indels\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000408635" "0" "70" "10" "89712019" "89712019" "subst" "0" "02940" "PTEN_000160" "g.89712019A>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "splicing variant" "Germline" "" "" "0" "" "" "g.87952262A>C" "" "likely pathogenic" "" "0000408636" "0" "90" "10" "89712021" "89712021" "subst" "4.10867E-6" "02940" "PTEN_000147" "g.89712021G>A" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "splicing variant" "Germline" "" "" "0" "" "" "g.87952264G>A" "" "pathogenic" "" "0000408637" "0" "70" "10" "89717712" "89717712" "subst" "0" "02940" "PTEN_000130" "g.89717712C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "missense variants or in frame indels" "Germline" "" "" "0" "" "" "g.87957955C>T" "" "likely pathogenic" "" "0000408638" "0" "70" "10" "89692911" "89692911" "subst" "0" "02940" "PTEN_000003" "g.89692911G>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "missense variants or in frame indels" "Germline" "" "" "0" "" "" "g.87933154G>T" "" "likely pathogenic" "" "0000408639" "0" "90" "10" "89692905" "89692905" "subst" "0" "02940" "PTEN_000019" "g.89692905G>A" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "missense variants or in frame indels" "Germline" "" "" "0" "" "" "g.87933148G>A" "" "pathogenic" "" "0000408640" "0" "90" "10" "89692905" "89692905" "subst" "0" "02940" "PTEN_000019" "g.89692905G>A" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "missense variants or in frame indels" "Germline" "" "" "0" "" "" "g.87933148G>A" "" "pathogenic" "" "0000409896" "0" "50" "10" "89622989" "89622989" "subst" "0" "00052" "PTEN_000110" "g.89622989A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409897" "0" "50" "10" "89623117" "89623117" "subst" "0" "00052" "PTEN_000111" "g.89623117A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409898" "0" "50" "10" "89623139" "89623139" "subst" "0" "00052" "PTEN_000165" "g.89623139C>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409899" "0" "50" "10" "89623143" "89623143" "subst" "0" "00052" "PTEN_000112" "g.89623143C>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409900" "0" "50" "10" "89623201" "89623201" "subst" "0" "00052" "PTEN_000113" "g.89623201C>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409901" "0" "50" "10" "89623226" "89623226" "subst" "0" "00052" "PTEN_000114" "g.89623226T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409902" "0" "50" "10" "89623297" "89623297" "subst" "0" "00052" "PTEN_000115" "g.89623297G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409903" "0" "50" "10" "89623306" "89623306" "subst" "0" "00052" "PTEN_000116" "g.89623306G>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409904" "0" "50" "10" "89623324" "89623324" "subst" "0" "00052" "PTEN_000117" "g.89623324G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409905" "0" "50" "10" "89623332" "89623332" "subst" "0" "00052" "PTEN_000118" "g.89623332A>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409906" "0" "50" "10" "89623366" "89623366" "subst" "0" "00052" "PTEN_000104" "g.89623366G>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409907" "0" "50" "10" "89623392" "89623392" "subst" "0" "00052" "PTEN_000106" "g.89623392C>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409908" "0" "50" "10" "89623463" "89623463" "subst" "0" "00052" "PTEN_000108" "g.89623463G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409909" "0" "50" "10" "89624218" "89624218" "subst" "0.00361813" "00052" "PTEN_000023" "g.89624218C>G" "" "copy from {DB:ZJU-CGGM}" "" "-9C>G" "" "Germline" "" "" "0" "" "" "g.87864461C>G" "" "VUS" "" "0000409910" "0" "50" "10" "89624243" "89624244" "del" "0" "00052" "PTEN_000123" "g.89624243_89624244del" "" "copy from {DB:ZJU-CGGM}" "" "17_18delAA" "" "Germline" "" "" "0" "" "" "g.87864486_87864487del" "" "VUS" "" "0000409911" "0" "50" "10" "89624266" "89624266" "dup" "0" "00052" "PTEN_000234" "g.89624266dup" "" "copy from {DB:ZJU-CGGM}" "" "40_41insA" "" "Germline" "" "" "0" "" "" "g.87864509dup" "" "VUS" "" "0000409912" "0" "50" "10" "89624273" "89624273" "dup" "0" "00052" "PTEN_000109" "g.89624273dup" "" "copy from {DB:ZJU-CGGM}" "" "47_48insA" "" "Germline" "" "" "0" "" "" "g.87864516dup" "" "VUS" "" "0000409913" "0" "50" "10" "89624274" "89624274" "subst" "0" "00052" "PTEN_000132" "g.89624274T>A" "" "copy from {DB:ZJU-CGGM}" "" "Y16X" "" "Germline" "" "" "0" "" "" "g.87864517T>A" "" "VUS" "" "0000409914" "0" "50" "10" "89624279" "89624279" "del" "0" "00052" "PTEN_000222" "g.89624279del" "" "copy from {DB:ZJU-CGGM}" "" "53delA" "" "Germline" "" "" "0" "" "" "g.87864522del" "" "VUS" "" "0000409915" "0" "50" "10" "89624292" "89624292" "subst" "0" "00052" "PTEN_000172" "g.89624292C>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87864535C>G" "" "VUS" "" "0000409916" "0" "50" "10" "89624294" "89624294" "subst" "0" "00052" "PTEN_000008" "g.89624294T>A" "" "copy from {DB:ZJU-CGGM}" "" "T to A substitution in exon 01" "" "Germline" "" "" "0" "" "" "g.87864537T>A" "" "VUS" "" "0000409917" "0" "50" "10" "89624295" "89624300" "del" "0" "00052" "PTEN_000093" "g.89624295_89624300del" "" "copy from {DB:ZJU-CGGM}" "" "69-74del6" "" "Germline" "" "" "0" "" "" "g.87864538_87864543del" "" "VUS" "" "0000409918" "0" "50" "10" "89624300" "89624300" "dup" "0" "00052" "PTEN_000101" "g.89624300dup" "" "copy from {DB:ZJU-CGGM}" "" "74insA" "" "Germline" "" "" "0" "" "" "g.87864543dup" "" "VUS" "" "0000409919" "0" "50" "10" "0" "0" "" "0" "00052" "PTEN_000020" "g.?" "" "copy from {DB:ZJU-CGGM}" "" "137_138ins One-amino-acid insertion (Asn)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000409920" "0" "50" "10" "89653799" "89653801" "del" "0" "00052" "PTEN_000042" "g.89653799_89653801del" "" "copy from {DB:ZJU-CGGM}" "" "97-99delATT" "" "Germline" "" "" "0" "" "" "g.87894042_87894044del" "" "VUS" "" "0000409921" "0" "50" "10" "89653801" "89653801" "del" "0" "00052" "PTEN_000128" "g.89653801del" "" "copy from {DB:ZJU-CGGM}" "" "99delT" "" "Germline" "" "" "0" "" "" "g.87894044del" "" "VUS" "" "0000409922" "0" "50" "10" "89653803" "89653803" "subst" "0" "00052" "PTEN_000068" "g.89653803C>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87894046C>A" "" "VUS" "" "0000409923" "0" "50" "10" "89653805" "89653805" "subst" "0" "00052" "PTEN_000080" "g.89653805A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87894048A>G" "" "VUS" "" "0000409924" "0" "50" "10" "89653806" "89653806" "subst" "0" "00052" "PTEN_000070" "g.89653806T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87894049T>C" "" "VUS" "" "0000409925" "0" "50" "10" "89653806" "89653806" "subst" "0" "00052" "PTEN_000039" "g.89653806T>G" "" "copy from {DB:ZJU-CGGM}" "" "T to G substitution in exon 02" "" "Germline" "" "" "0" "" "" "g.87894049T>G" "" "VUS" "" "0000409926" "0" "50" "10" "89653808" "89653808" "subst" "0" "00052" "PTEN_000040" "g.89653808G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87894051G>A" "" "VUS" "" "0000409927" "0" "50" "10" "89653808" "89653808" "subst" "0" "00052" "PTEN_000134" "g.89653808G>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87894051G>C" "" "VUS" "" "0000409928" "0" "50" "10" "89653813" "89653813" "subst" "0" "00052" "PTEN_000211" "g.89653813T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87894056T>C" "" "VUS" "" "0000409929" "0" "50" "10" "89653817" "89653817" "subst" "0" "00052" "PTEN_000119" "g.89653817G>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87894060G>C" "" "VUS" "" "0000409930" "0" "50" "10" "89653843" "89653843" "del" "0" "00052" "PTEN_000194" "g.89653843del" "" "copy from {DB:ZJU-CGGM}" "" "141delG" "" "Germline" "" "" "0" "" "" "g.87894086del" "" "VUS" "" "0000409931" "0" "50" "10" "89653846" "89653846" "subst" "0" "00052" "PTEN_000254" "g.89653846C>R" "" "copy from {DB:ZJU-CGGM}" "" "N48K" "" "Germline" "" "" "0" "" "" "g.87894089C>R" "" "VUS" "" "0000409932" "0" "50" "10" "89653846" "89653846" "subst" "0" "00052" "PTEN_000178" "g.89653846C>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87894089C>A" "" "VUS" "" "0000409933" "0" "50" "10" "89653853" "89653859" "del" "0" "00052" "PTEN_000208" "g.89653853_89653859del" "" "copy from {DB:ZJU-CGGM}" "" "seven-base-pair insertion at codon 52 (GATGATG)" "" "Germline" "" "" "0" "" "" "g.87894096_87894102del" "" "VUS" "" "0000409934" "0" "50" "10" "89653857" "89653859" "del" "0" "00052" "PTEN_000210" "g.89653857_89653859del" "" "copy from {DB:ZJU-CGGM}" "" "155_157delATG" "" "Germline" "" "" "0" "" "" "g.87894100_87894102del" "" "VUS" "" "0000409935" "0" "50" "10" "89653859" "89653860" "ins" "0" "00052" "PTEN_000216" "g.89653859_89653860insATAC" "" "copy from {DB:ZJU-CGGM}" "" "ATAC insertion in exon 02" "" "Germline" "" "" "0" "" "" "g.87894102_87894103insATAC" "" "VUS" "" "0000409936" "0" "50" "10" "89653860" "89653861" "del" "0" "00052" "PTEN_000042" "g.89653860_89653861del" "" "copy from {DB:ZJU-CGGM}" "" "158_159delTA" "" "Germline" "" "" "0" "" "" "g.87894103_87894104del" "" "VUS" "" "0000409937" "0" "50" "10" "89653867" "89653867" "subst" "0" "00052" "PTEN_000097" "g.89653867G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87894110G>A" "" "VUS" "" "0000409938" "0" "50" "10" "89653867" "89653871" "del" "0" "00052" "PTEN_000226" "g.89653867_89653871del" "" "copy from {DB:ZJU-CGGM}" "" "IVS2+1-del5 (GTAAG)" "" "Germline" "" "" "0" "" "" "g.87894110_87894114del" "" "VUS" "" "0000409939" "0" "50" "10" "89685268" "89685268" "subst" "0" "00052" "PTEN_000148" "g.89685268A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925511A>G" "" "VUS" "" "0000409940" "0" "50" "10" "89685275" "89685276" "ins" "0" "00052" "PTEN_000232" "g.89685275_89685276insTTAC" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925518_87925519insTTAC" "" "VUS" "" "0000409941" "0" "50" "10" "89685280" "89685280" "subst" "0" "00052" "PTEN_000164" "g.89685280T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925523T>C" "" "VUS" "" "0000409942" "0" "50" "10" "89685281" "89685281" "subst" "0" "00052" "PTEN_000098" "g.89685281C>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925524C>A" "" "VUS" "" "0000409943" "0" "50" "10" "89685284" "89685284" "del" "0" "00052" "PTEN_000095" "g.89685284del" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925527del" "" "VUS" "" "0000409944" "0" "50" "10" "89685286" "89685286" "subst" "0" "00052" "PTEN_000088" "g.89685286C>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925529C>A" "" "VUS" "" "0000409945" "0" "50" "10" "89685291" "89685292" "ins" "0" "00052" "PTEN_000073" "g.89685291_89685292insCA" "" "copy from {DB:ZJU-CGGM}" "" "an insertion(CA) at 1215 resulting in a frameshift at codon 61 and a premature stop at codon 99" "" "Germline" "" "" "0" "" "" "g.87925534_87925535insCA" "" "VUS" "" "0000409946" "0" "50" "10" "89685305" "89685305" "subst" "0" "00052" "PTEN_000221" "g.89685305T>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925548T>G" "" "VUS" "" "0000409947" "0" "50" "10" "89685307" "89685307" "subst" "0" "00052" "PTEN_000121" "g.89685307T>C" "" "copy from {DB:ZJU-CGGM}" "" "T to C substitution in exon 03" "" "Germline" "" "" "0" "" "" "g.87925550T>C" "" "VUS" "" "0000409948" "0" "50" "10" "89685307" "89685307" "subst" "0" "00052" "PTEN_000120" "g.89685307T>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925550T>G" "" "VUS" "" "0000409949" "0" "50" "10" "89685308" "89685308" "subst" "0" "00052" "PTEN_000044" "g.89685308A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925551A>G" "" "VUS" "" "0000409950" "0" "50" "10" "89685314" "89685314" "subst" "0" "00052" "PTEN_000005" "g.89685314T>C" "" "copy from {DB:ZJU-CGGM}" "" "209T>C" "" "Germline" "" "" "0" "" "" "g.87925557T>C" "" "VUS" "" "0000409951" "0" "50" "10" "89685315" "89685315" "subst" "0" "00052" "PTEN_000099" "g.89685315G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925558G>A" "" "VUS" "" "0000409952" "0" "50" "10" "89685315" "89685315" "subst" "0" "00052" "PTEN_000043" "g.89685315G>C" "" "copy from {DB:ZJU-CGGM}" "" "IVS3+1G>C" "" "Germline" "" "" "0" "" "" "g.87925558G>C" "" "VUS" "" "0000409953" "0" "50" "10" "89685315" "89685316" "del" "0" "00052" "PTEN_000141" "g.89685315_89685316del" "" "copy from {DB:ZJU-CGGM}" "" "209+1_209+2delGT" "" "Germline" "" "" "0" "" "" "g.87925558_87925559del" "" "VUS" "" "0000409954" "0" "50" "10" "89685318" "89685321" "del" "0" "00052" "PTEN_000245" "g.89685318_89685321del" "" "copy from {DB:ZJU-CGGM}" "" "209+1_209+4delGTAA" "" "Germline" "" "" "0" "" "" "g.87925561_87925564del" "" "VUS" "" "0000409955" "0" "50" "10" "89685319" "89685319" "subst" "0" "00052" "PTEN_000036" "g.89685319G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87925562G>A" "" "VUS" "" "0000409956" "0" "50" "10" "89690764" "89690764" "subst" "0.00258728" "00052" "PTEN_000037" "g.89690764A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87931007A>G" "" "VUS" "" "0000409957" "0" "50" "10" "89690794" "89690794" "subst" "7.7674E-5" "00052" "PTEN_000209" "g.89690794T>C" "" "copy from {DB:ZJU-CGGM}" "" "IVS3-9T>C" "" "Germline" "" "" "0" "" "" "g.87931037T>C" "" "VUS" "" "0000409958" "0" "50" "10" "89690796" "89690800" "del" "0" "00052" "PTEN_000140" "g.89690796_89690800del" "" "copy from {DB:ZJU-CGGM}" "" "IVS3-3 ~ 7delCTTTT" "" "Germline" "" "" "0" "" "" "g.87931039_87931043del" "" "VUS" "" "0000409959" "0" "50" "10" "89690796" "89690800" "del" "0" "00052" "PTEN_000140" "g.89690796_89690800del" "" "copy from {DB:ZJU-CGGM}" "" "210-7_210-3delCTTTT" "" "Germline" "" "" "0" "" "" "g.87931039_87931043del" "" "VUS" "" "0000409960" "0" "50" "10" "89690802" "89690802" "subst" "0" "00052" "PTEN_000149" "g.89690802G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87931045G>A" "" "VUS" "" "0000409961" "0" "50" "10" "89690812" "89690815" "del" "0" "00052" "PTEN_000247" "g.89690812_89690815del" "" "copy from {DB:ZJU-CGGM}" "" "219-222delAAGA" "" "Germline" "" "" "0" "" "" "g.87931055_87931058del" "" "VUS" "" "0000409962" "0" "50" "10" "89690813" "89690813" "del" "0" "00052" "PTEN_000072" "g.89690813del" "" "copy from {DB:ZJU-CGGM}" "" "220delA" "" "Germline" "" "" "0" "" "" "g.87931056del" "" "VUS" "" "0000409963" "0" "50" "10" "89690825" "89690825" "subst" "0" "00052" "PTEN_000076" "g.89690825A>G" "" "copy from {DB:ZJU-CGGM}" "" "missense mutation (Thr78Ala)" "" "Germline" "" "" "0" "" "" "g.87931068A>G" "" "VUS" "" "0000409964" "0" "50" "10" "89690828" "89690828" "subst" "0.000106134" "00052" "PTEN_000248" "g.89690828G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87931071G>A" "" "VUS" "" "0000409965" "0" "50" "10" "89690831" "89690831" "subst" "0" "00052" "PTEN_000135" "g.89690831A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87931074A>G" "" "VUS" "" "0000409966" "0" "50" "10" "89690835" "89690835" "subst" "0" "00052" "PTEN_000034" "g.89690835T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87931078T>C" "" "VUS" "" "0000409967" "0" "50" "10" "89690838" "89690838" "subst" "0" "00052" "PTEN_000075" "g.89690838A>C" "" "copy from {DB:ZJU-CGGM}" "" "an A to a C change at cDNA position 1279" "" "Germline" "" "" "0" "" "" "g.87931081A>C" "" "VUS" "" "0000409968" "0" "50" "10" "89690841" "89690841" "subst" "0" "00052" "PTEN_000046" "g.89690841G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87931084G>A" "" "VUS" "" "0000409969" "0" "50" "10" "89690847" "89690847" "subst" "0" "00052" "PTEN_000044" "g.89690847G>T" "" "copy from {DB:ZJU-CGGM}" "" "IVS4+1>T" "" "Germline" "" "" "0" "" "" "g.87931090G>T" "" "VUS" "" "0000409970" "0" "50" "10" "89690848" "89690848" "subst" "0" "00052" "PTEN_000150" "g.89690848T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87931091T>C" "" "VUS" "" "0000409971" "0" "50" "10" "89690954" "89690955" "ins" "0" "00052" "PTEN_000241" "g.89690954_89690955insTCTTA" "" "copy from {DB:ZJU-CGGM}" "" "TCTTA insertion in intron 04" "" "Germline" "" "" "0" "" "" "g.87931197_87931198insTCTTA" "" "VUS" "" "0000409972" "0" "50" "10" "89692743" "89692743" "dup" "0" "00052" "PTEN_000242" "g.89692743dup" "" "copy from {DB:ZJU-CGGM}" "" "IVS4-26insT" "" "Germline" "" "" "0" "" "" "g.87932986dup" "" "VUS" "" "0000409973" "0" "50" "10" "89692759" "89692759" "subst" "0" "00052" "PTEN_000070" "g.89692759T>G" "" "copy from {DB:ZJU-CGGM}" "" "IVS 5-11T>G" "" "Germline" "" "" "0" "" "" "g.87933002T>G" "" "VUS" "" "0000409974" "0" "50" "10" "89692774" "89692774" "subst" "1.62602E-5" "00052" "PTEN_000047" "g.89692774A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933017A>G" "" "VUS" "" "0000409975" "0" "50" "10" "89692775" "89692775" "subst" "0" "00052" "PTEN_000050" "g.89692775C>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933018C>T" "" "VUS" "" "0000409976" "0" "50" "10" "89692778" "89692778" "subst" "0" "00052" "PTEN_000133" "g.89692778T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933021T>C" "" "VUS" "" "0000409977" "0" "50" "10" "89692781" "89692782" "ins" "0" "00052" "PTEN_000159" "g.89692781_89692782insTT" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933024_87933025insTT" "" "VUS" "" "0000409978" "0" "50" "10" "89692791" "89692791" "subst" "0" "00052" "PTEN_000166" "g.89692791A>G" "" "copy from {DB:ZJU-CGGM}" "" "92 GAC to GGC" "" "Germline" "" "" "0" "" "" "g.87933034A>G" "" "VUS" "" "0000409979" "0" "50" "10" "89692792" "89692792" "subst" "0" "00052" "PTEN_000143" "g.89692792C>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933035C>A" "" "VUS" "" "0000409980" "0" "50" "10" "89692793" "89692793" "subst" "0" "00052" "PTEN_000167" "g.89692793C>T" "" "copy from {DB:ZJU-CGGM}" "" "93 CAT to TAT" "" "Germline" "" "" "0" "" "" "g.87933036C>T" "" "VUS" "" "0000409981" "0" "50" "10" "89692802" "89692802" "subst" "0" "00052" "PTEN_000251" "g.89692802C>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933045C>T" "" "VUS" "" "0000409982" "0" "50" "10" "89692803" "89692803" "subst" "0" "00052" "PTEN_000009" "g.89692803C>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933046C>A" "" "VUS" "" "0000409983" "0" "50" "10" "89692805" "89692805" "subst" "0" "00052" "PTEN_000045" "g.89692805C>T" "" "copy from {DB:ZJU-CGGM}" "" "289C>T" "" "Germline" "" "" "0" "" "" "g.87933048C>T" "" "VUS" "" "0000409984" "0" "50" "10" "89692818" "89692820" "delins" "0" "00052" "PTEN_000217" "g.89692818_89692820delinsCC" "" "copy from {DB:ZJU-CGGM}" "" "302_304delinsCC" "" "Germline" "" "" "0" "" "" "g.87933061_87933063delinsCC" "" "VUS" "" "0000409985" "0" "50" "10" "89692819" "89692820" "ins" "0" "00052" "PTEN_000218" "g.89692819_89692820insT" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933062_87933063insT" "" "VUS" "" "0000409986" "0" "50" "10" "89692823" "89692823" "subst" "0" "00052" "PTEN_000092" "g.89692823C>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933066C>A" "" "VUS" "" "0000409987" "0" "50" "10" "89692830" "89692830" "subst" "0" "00052" "PTEN_000122" "g.89692830G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933073G>A" "" "VUS" "" "0000409988" "0" "50" "10" "89692839" "89692839" "subst" "0" "00052" "PTEN_000074" "g.89692839T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933082T>C" "" "VUS" "" "0000409989" "0" "50" "10" "89692840" "89692840" "del" "0" "00052" "PTEN_000256" "g.89692840del" "" "copy from {DB:ZJU-CGGM}" "" "324delG" "" "Germline" "" "" "0" "" "" "g.87933083del" "" "VUS" "" "0000409990" "0" "50" "10" "89692844" "89692844" "subst" "0" "00052" "PTEN_000022" "g.89692844C>T" "" "copy from {DB:ZJU-CGGM}" "" "C to T substitution in exon 05" "" "Germline" "" "" "0" "" "" "g.87933087C>T" "" "VUS" "" "0000409991" "0" "50" "10" "89692844" "89692844" "subst" "0" "00052" "PTEN_000053" "g.89692844C>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933087C>T" "" "VUS" "" "0000409992" "0" "50" "10" "89692847" "89692847" "subst" "0" "00052" "PTEN_000240" "g.89692847T>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933090T>A" "" "VUS" "" "0000409993" "0" "50" "10" "89692850" "89692850" "subst" "0" "00052" "PTEN_000001" "g.89692850C>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933093C>G" "" "VUS" "" "0000409994" "0" "50" "10" "89692850" "89693008" "del" "0" "00052" "PTEN_000002" "g.89692850_89693008del" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933093_87933251del" "" "VUS" "" "0000409995" "0" "50" "10" "89692862" "89692874" "dup" "0" "00052" "PTEN_000075" "g.89692862_89692874dup" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933105_87933117dup" "" "VUS" "" "0000409996" "0" "50" "10" "89692863" "89692867" "del" "0" "00052" "PTEN_000054" "g.89692863_89692867del" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933106_87933110del" "" "VUS" "" "0000409997" "0" "50" "10" "89692863" "89692867" "del" "0" "00052" "PTEN_000054" "g.89692863_89692867del" "" "copy from {DB:ZJU-CGGM}" "" "347_351delACAAT" "" "Germline" "" "" "0" "" "" "g.87933106_87933110del" "" "VUS" "" "0000409998" "0" "50" "10" "89692871" "89692871" "subst" "0" "00052" "PTEN_000125" "g.89692871G>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933114G>C" "" "VUS" "" "0000409999" "0" "50" "10" "89692883" "89692883" "subst" "0" "00052" "PTEN_000010" "g.89692883C>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933126C>G" "" "VUS" "" "0000410000" "0" "50" "10" "89692884" "89692884" "subst" "0" "00052" "PTEN_000032" "g.89692884A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933127A>G" "" "VUS" "" "0000410001" "0" "50" "10" "89692886" "89692886" "subst" "0" "00052" "PTEN_000168" "g.89692886T>A" "" "copy from {DB:ZJU-CGGM}" "" "124 TGT to AGT" "" "Germline" "" "" "0" "" "" "g.87933129T>A" "" "VUS" "" "0000410002" "0" "50" "10" "89692886" "89692886" "subst" "0" "00052" "PTEN_000033" "g.89692886T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933129T>C" "" "VUS" "" "0000410003" "0" "50" "10" "89692890" "89692891" "ins" "0" "00052" "PTEN_000243" "g.89692890_89692891insTTTA" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933133_87933134insTTTA" "" "VUS" "" "0000410004" "0" "50" "10" "89692895" "89692895" "subst" "0" "00052" "PTEN_000192" "g.89692895G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933138G>A" "" "VUS" "" "0000410005" "0" "50" "10" "89692897" "89692900" "del" "0" "00052" "PTEN_000224" "g.89692897_89692900del" "" "copy from {DB:ZJU-CGGM}" "" "381_384delAAAG" "" "Germline" "" "" "0" "" "" "g.87933140_87933143del" "" "VUS" "" "0000410006" "0" "50" "10" "89692900" "89692900" "subst" "0" "00052" "PTEN_000257" "g.89692900C>Y" "" "copy from {DB:ZJU-CGGM}" "" "-" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000410007" "0" "50" "10" "89692902" "89692902" "subst" "0" "00052" "PTEN_000021" "g.89692902G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933145G>A" "" "VUS" "" "0000410008" "0" "50" "10" "89692904" "89692904" "subst" "1.21875E-5" "00052" "PTEN_000013" "g.89692904C>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933147C>T" "" "VUS" "" "0000410009" "0" "50" "10" "89692905" "89692905" "subst" "0" "00052" "PTEN_000019" "g.89692905G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933148G>A" "" "VUS" "" "0000410010" "0" "50" "10" "89692905" "89692905" "subst" "0" "00052" "PTEN_000055" "g.89692905G>T" "" "copy from {DB:ZJU-CGGM}" "" "G to T substitution in exon 05" "" "Germline" "" "" "0" "" "" "g.87933148G>T" "" "VUS" "" "0000410011" "0" "50" "10" "89692906" "89692906" "subst" "0" "00052" "PTEN_000124" "g.89692906A>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933149A>C" "" "VUS" "" "0000410012" "0" "50" "10" "89692908" "89692908" "subst" "0" "00052" "PTEN_000207" "g.89692908C>T" "" "copy from {DB:ZJU-CGGM}" "" "Amino acid changeThr131Ile" "" "Germline" "" "" "0" "" "" "g.87933151C>T" "" "VUS" "" "0000410013" "0" "50" "10" "89692911" "89692911" "subst" "0" "00052" "PTEN_000078" "g.89692911G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933154G>A" "" "VUS" "" "0000410014" "0" "50" "10" "89692911" "89692911" "subst" "0" "00052" "PTEN_000003" "g.89692911G>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87933154G>T" "" "VUS" "" "0000410015" "0" "50" "10" "89692913" "89692913" "subst" "0" "00052" "PTEN_000169" "g.89692913G>A" "" "copy from {DB:ZJU-CGGM}" "" "133 GTA to ATA" "" "Germline" "" "" "0" "" "" "g.87933156G>A" "" "VUS" "" "0000410016" "0" "50" "10" "89692917" "89692917" "subst" "0" "00052" "PTEN_000072" "g.89692917T>G" "" "copy from {DB:ZJU-CGGM}" "" "1435T>G" "" 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"PTEN_000219" "g.89717775dup" "" "copy from {DB:ZJU-CGGM}" "" "799_800insA" "" "Germline" "" "" "0" "" "" "g.87958018dup" "" "VUS" "" "0000410091" "0" "50" "10" "89717777" "89717777" "subst" "0" "00052" "PTEN_000154" "g.89717777G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87958020G>A" "" "VUS" "" "0000410092" "0" "50" "10" "89717777" "89717777" "subst" "0" "00052" "PTEN_000047" "g.89717777G>T" "" "copy from {DB:ZJU-CGGM}" "" "IVS7+1>T" "" "Germline" "" "" "0" "" "" "g.87958020G>T" "" "VUS" "" "0000410093" "0" "50" "10" "89717783" "89717783" "subst" "0" "00052" "PTEN_000145" "g.89717783A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87958026A>G" "" "VUS" "" "0000410094" "0" "50" "10" "89720623" "89720623" "subst" "0" "00052" "PTEN_000205" "g.89720623T>C" "" "copy from {DB:ZJU-CGGM}" "" "802-29T>C" "" "Germline" "" "" "0" "" "" "g.87960866T>C" "" "VUS" "" "0000410095" "0" "50" "10" "89720648" "89720648" "dup" "0" "00052" "PTEN_000214" "g.89720648dup" "" "copy from {DB:ZJU-CGGM}" "" "IVS7" "" "Germline" "" "" "0" "" "" "g.87960891dup" "" "VUS" "" "0000410096" "0" "50" "10" "89720651" "89720651" "del" "0" "00052" "PTEN_000146" "g.89720651del" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87960894del" "" "VUS" "" "0000410097" "0" "50" "10" "89720708" "89720708" "subst" "0" "00052" "PTEN_000071" "g.89720708T>C" "" "copy from {DB:ZJU-CGGM}" "" "859T>C" "" "Germline" "" "" "0" "" "" "g.87960951T>C" "" "VUS" "" "0000410098" "0" "50" "10" "89720711" "89720711" "subst" "0" "00052" "PTEN_000261" "g.89720711G>T" "" "copy from {DB:ZJU-CGGM}" "" "p.Lys288X" "" "Germline" "" "" "0" "" "" "g.87960954G>T" "" "VUS" "" "0000410099" "0" "50" "10" "89720714" "89720714" "subst" "8.13319E-6" "00052" "PTEN_000224" "g.89720714A>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87960957A>G" "" "VUS" "" "0000410100" "0" "50" "10" "89720714" "89720715" "ins" "0" "00052" "PTEN_000137" "g.89720714_89720715insCT" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87960957_87960958insCT" "" "VUS" "" "0000410101" "0" "50" "10" "89720741" "89720741" "subst" "0" "00052" "PTEN_000171" "g.89720741C>T" "" "copy from {DB:ZJU-CGGM}" "" "298 CAA to TAA" "" "Germline" "" "" "0" "" "" "g.87960984C>T" "" "VUS" "" "0000410102" "0" "50" "10" "89720743" "89720743" "dup" "0" "00052" "PTEN_000099" "g.89720743dup" "" "copy from {DB:ZJU-CGGM}" "" "894dupA" "" "Germline" "" "" "0" "" "" "g.87960986dup" "" "VUS" "" "0000410103" "0" "50" "10" "89720764" "89720776" "del" "0" "00052" "PTEN_000244" "g.89720764_89720776del" "" "copy from {DB:ZJU-CGGM}" "" "13-bp deletion mutation in exon 08" "" "Germline" "" "" "0" "" "" "g.87961007_87961019del" "" "VUS" "" "0000410104" "0" "50" "10" "89720765" "89720766" "ins" "0" "00052" "PTEN_000158" "g.89720765_89720766insCG" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87961008_87961009insCG" "" "VUS" "" "0000410105" "0" "50" "10" "89720787" "89720787" "del" "0" "00052" "PTEN_000233" "g.89720787del" "" "copy from {DB:ZJU-CGGM}" "" "937delA" "" "Germline" "" "" "0" "" "" "g.87961030del" "" "VUS" "" "0000410106" "0" "50" "10" "89720789" "89720789" "dup" "0" "00052" "PTEN_000199" "g.89720789dup" "" "copy from {DB:ZJU-CGGM}" "" "940dupG" "" "Germline" "" "" "0" "" "" "g.87961032dup" "" "VUS" "" "0000410107" "0" "50" "10" "89720794" "89720794" "subst" "0" "00052" "PTEN_000063" "g.89720794T>R" "" "copy from {DB:ZJU-CGGM}" "" "p.Tyr315X" "" "Germline" "" "" "0" "" "" "g.87961037T>R" "" "VUS" "" "0000410108" "0" "50" "10" "89720804" "89720804" "dup" "0" "00052" "PTEN_000229" "g.89720804dup" "" "copy from {DB:ZJU-CGGM}" "" "955dupA" "" "Germline" "" "" "0" "" "" "g.87961047dup" "" "VUS" "" "0000410109" "0" "50" "10" "89720804" "89720807" "del" "0" "00052" "PTEN_000102" "g.89720804_89720807del" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87961047_87961050del" "" "VUS" "" "0000410110" "0" "50" "10" "89720804" "89720807" "del" "0" "00052" "PTEN_000102" "g.89720804_89720807del" "" "copy from {DB:ZJU-CGGM}" "" "951_954delACTT" "" "Germline" "" "" "0" "" "" "g.87961047_87961050del" "" "VUS" "" "0000410111" "0" "50" "10" "89720808" "89720808" "subst" "0" "00052" "PTEN_000650" "g.89720808T>A" "" "copy from {DB:ZJU-CGGM}" "" "959T>A" "" "Germline" "" "" "0" "" "" "g.87961051T>A" "" "VUS" "" "0000410112" "0" "50" "10" "89720817" "89720817" "del" "0" "00052" "PTEN_000237" "g.89720817del" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87961060del" "" "VUS" "" "0000410113" "0" "50" "10" "89720817" "89720817" "dup" "0" "00052" "PTEN_000084" "g.89720817dup" "" "copy from {DB:ZJU-CGGM}" "" "968dupA" "" "Germline" "" "" "0" "" "" "g.87961060dup" "" "VUS" "" "0000410114" "0" "50" "10" "89720820" "89720821" "dup" "0" "00052" "PTEN_000220" "g.89720820_89720821dup" "" "copy from {DB:ZJU-CGGM}" "" "970_971insAT" "" "Germline" "" "" "0" "" "" "g.87961063_87961064dup" "" "VUS" "" "0000410115" "0" "50" "10" "89720825" "89720825" "subst" "0" "00052" "PTEN_000174" "g.89720825G>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87961068G>A" "" "VUS" "" "0000410116" "0" "50" "10" "89720830" "89720830" "del" "0" "00052" "PTEN_000064" "g.89720830del" "" "copy from {DB:ZJU-CGGM}" "" "981delA" "" "Germline" "" "" "0" "" "" "g.87961073del" "" "VUS" "" "0000410117" "0" "50" "10" "89720836" "89720839" "del" "0" "00052" "PTEN_000215" "g.89720836_89720839del" "" "copy from {DB:ZJU-CGGM}" "" "987_990delTAAA" "" "Germline" "" "" "0" "" "" "g.87961079_87961082del" "" "VUS" "" "0000410118" "0" "50" "10" "89720852" "89720852" "subst" "0" "00052" "PTEN_000018" "g.89720852C>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87961095C>T" "" "VUS" "" "0000410119" "0" "50" "10" "89720852" "89720852" "subst" "0" "00052" "PTEN_000018" "g.89720852C>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87961095C>T" "" "VUS" "" "0000410120" "0" "50" "10" "89720853" "89720853" "subst" "0" "00052" "PTEN_000225" "g.89720853G>T" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87961096G>T" "" "VUS" "" "0000410121" "0" "50" "10" "89720856" "89720856" "dup" "0" "00052" "PTEN_000065" "g.89720856dup" "" "copy from {DB:ZJU-CGGM}" "" "1006_1007insA" "" "Germline" "" "" "0" "" "" "g.87961099dup" "" "VUS" "" "0000410122" "0" "50" "10" "89720859" "89720859" "subst" "0" "00052" "PTEN_000198" "g.89720859T>C" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87961102T>C" "" "VUS" "" "0000410123" "0" "50" "10" "89720876" "89720876" "subst" "0" "00052" "PTEN_000227" "g.89720876G>A" "" "copy from {DB:ZJU-CGGM}" "" "IVS8+1A>G" "" "Germline" "" "" "0" "" "" "g.87961119G>A" "" "VUS" "" "0000410124" "0" "50" "10" "89720907" "89720907" "subst" "0.37258" "00052" "PTEN_000246" "g.89720907T>G" "" "copy from {DB:ZJU-CGGM}" "" "IVS8+32G/T" "" "Germline" "" "" "0" "" "" "g.87961150T>G" "" "VUS" "" "0000410125" "0" "50" "10" "89725045" "89725045" "subst" "0" "00052" "PTEN_000028" "g.89725045T>A" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87965288T>A" "" "VUS" "" "0000410126" "0" "50" "10" "89725050" "89725050" "subst" "0" "00052" "PTEN_000103" "g.89725050C>G" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87965293C>G" "" "VUS" "" "0000410127" "0" "50" "10" "89725056" "89725056" "subst" "0" "00052" "PTEN_000029" "g.89725056T>C" "" "copy from {DB:ZJU-CGGM}" "" "T to C substitution in exon 08" "" "Germline" "" "" "0" "" "" "g.87965299T>C" "" "VUS" "" "0000410128" "0" "50" "10" "89725171" "89725172" "del" "0" "00052" "PTEN_000042" "g.89725171_89725172del" "" "copy from {DB:ZJU-CGGM}" "" "1154_1155delCT" "" "Germline" "" "" "0" "" "" "g.87965414_87965415del" "" "VUS" "" "0000410129" "0" "50" "10" "89725209" "89725210" "ins" "0" "00052" "PTEN_000030" "g.89725209_89725210insTTAC" "" "copy from {DB:ZJU-CGGM}" "" "-" "" "Germline" "" "" "0" "" "" "g.87965452_87965453insTTAC" "" "VUS" "" "0000410130" "0" "10" "10" "89725293" "89725294" "ins" "0" "00052" "PTEN_000262" "g.89725293_89725294insA" "4/177 cases" "copy from {DB:ZJU-CGGM}" "" "1212+65insA" "" "Germline" "" "" "0" "" "" "g.87965536_87965537insA" "" "benign" "" "0000438845" "0" "50" "10" "89720669" "89720669" "subst" "0" "01164" "PTEN_000387" "g.89720669T>G" "" "" "" "" "ACMG grading: PP3,PM2" "Germline" "" "" "0" "" "" "g.87960912T>G" "" "VUS" "ACMG" "0000441265" "0" "90" "10" "89624270" "89624270" "subst" "0" "00006" "PTEN_000670" "g.89624270G>T" "" "{PMID:Lionel 2018:28771251}" "" "" "" "De novo" "" "" "0" "" "" "g.87864513G>T" "" "pathogenic (dominant)" "" "0000442936" "0" "50" "10" "89685305" "89685305" "subst" "0" "01164" "PTEN_000671" "g.89685305T>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.87925548T>C" "" "VUS" "ACMG" "0000453991" "0" "90" "10" "89685269" "89685315" "del" "0" "00006" "PTEN_000672" "g.(89653867_89685269)_(89685315_89690802)del" "1/2134 cases BRCA" "{PMID:Slavin 2017:28649662}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000454401" "0" "59" "10" "0" "0" "" "0" "00645" "BMPR1A_000105" "g.(?_88490000_89750000_?)del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "del entire BMPR1a and PTEN genes" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454507" "0" "59" "10" "0" "0" "" "0" "00645" "BMPR1A_000105" "g.(?_88490000_89750000_?)del" "" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "hemizygous del BMPR1A and PTEN" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454536" "0" "99" "10" "88450000" "89750000" "" "0" "00645" "BMPR1A_000105" "g.(?_88450000)_(89750000_?)del" "" "{PMID:Delnatte 2006:16685657}" "" ">1.2Mb del BMPR1A/PTEN" "patient also carries 46,XX,t(2;10)(q31;p15)\r\n(?_88450000)_(89750000_?)del" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000454901" "0" "90" "10" "88397644" "89728532" "del" "0" "00006" "BMPR1A_000107" "g.(?_88397644)_(89728532_?)del" "" "{PMID:Aretz 2007:17873119}" "" "BMPR1A,‐119300‐?_1599+?del + PTEN,1‐?_1212+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000454902" "0" "90" "10" "89690847" "89690847" "subst" "0" "00006" "PTEN_000044" "g.89690847G>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.87931090G>T" "" "pathogenic (dominant)" "" "0000454903" "0" "90" "10" "89717672" "89717672" "subst" "0" "00006" "PTEN_000017" "g.89717672C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.87957915C>T" "" "pathogenic (dominant)" "" "0000487160" "0" "90" "10" "89711875" "89711875" "subst" "0" "00006" "PTEN_000673" "g.89711875G>A" "" "{PMID:O\'Donnell-Luria 2019:31079897}" "" "" "" "De novo" "" "" "0" "" "" "g.87952118G>A" "" "pathogenic" "" "0000500494" "0" "90" "10" "89692940" "89692940" "del" "0" "00643" "PTEN_000674" "g.89692940del" "" "{PMID:Fostira 2020:31300551}" "" "424delC" "" "Germline" "" "" "0" "" "" "g.87933183del" "" "pathogenic" "" "0000500495" "0" "90" "10" "89717672" "89717672" "subst" "0" "00643" "PTEN_000017" "g.89717672C>T" "" "{PMID:Fostira 2020:31300551}" "" "" "" "Germline" "" "" "0" "" "" "g.87957915C>T" "" "pathogenic" "" "0000500535" "0" "90" "10" "89717672" "89717672" "subst" "0" "00643" "PTEN_000017" "g.89717672C>T" "" "{PMID:Fostira 2020:31300551}" "" "" "" "Germline" "" "" "0" "" "" "g.87957915C>T" "" "pathogenic" "" "0000541385" "0" "30" "10" "89621948" "89621948" "subst" "5.38583E-5" "01943" "KLLN_000013" "g.89621948G>C" "" "" "" "KLLN(NM_001126049.1):c.297C>G (p.C99W, p.(Cys99Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87862191G>C" "" "likely benign" "" "0000541387" "0" "30" "10" "89622115" "89622115" "subst" "0.00131121" "01804" "KLLN_000008" "g.89622115C>G" "" "" "" "KLLN(NM_001126049.1):c.130G>C (p.(Gly44Arg), p.G44R), KLLN(NM_001126049.2):c.130G>C (p.G44R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87862358C>G" "" "likely benign" "" "0000541388" "0" "50" "10" "89622145" "89622145" "subst" "0" "01943" "KLLN_000015" "g.89622145G>C" "" "" "" "KLLN(NM_001126049.1):c.100C>G (p.P34A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87862388G>C" "" "VUS" "" "0000541389" "0" "50" "10" "89622196" "89622196" "subst" "0.000478604" "01804" "KLLN_000016" "g.89622196C>T" "" "" "" "KLLN(NM_001126049.1):c.49G>A (p.(Val17Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87862439C>T" "" "VUS" "" "0000541390" "0" "50" "10" "89623036" "89623036" "subst" "0" "02330" "KLLN_000017" "g.89623036G>A" "" "" "" "KLLN(NM_001126049.2):c.-792C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87863279G>A" "" "VUS" "" "0000541391" "0" "10" "10" "89623193" "89623197" "dup" "0" "02330" "KLLN_000018" "g.89623193_89623197dup" "" "" "" "KLLN(NM_001126049.2):c.-939_-935dupCAGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87863436_87863440dup" "" "benign" "" "0000541392" "0" "30" "10" "89623200" "89623200" "subst" "0" "02330" "PTEN_000322" "g.89623200C>A" "" "" "" "KLLN(NM_001126049.2):c.-956G>T, PTEN(NM_000314.8):c.-1027C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87863443C>A" "" "likely benign" "" "0000541393" "0" "30" "10" "89623694" "89623694" "subst" "0" "02330" "KLLN_000019" "g.89623694G>T" "" "" "" "PTEN(NM_000314.8):c.-533G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87863937G>T" "" "likely benign" "" "0000541394" "0" "30" "10" "89623695" "89623695" "subst" "0" "02330" "KLLN_000020" "g.89623695C>T" "" "" "" "PTEN(NM_000314.8):c.-532C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87863938C>T" "" "likely benign" "" "0000541395" "0" "30" "10" "89623736" "89623741" "dup" "0" "02330" "KLLN_000021" "g.89623736_89623741dup" "" "" "" "PTEN(NM_000314.8):c.-495_-490dupCGGCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87863979_87863984dup" "" "likely benign" "" "0000541396" "0" "30" "10" "89623739" "89623741" "dup" "0" "02330" "KLLN_000022" "g.89623739_89623741dup" "" "" "" "PTEN(NM_000314.4):c.-488_-486dup (p.(=)), PTEN(NM_000314.4):c.-488_-486dupCGG, PTEN(NM_000314.8):c.-489_-487dupCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87863982_87863984dup" "" "likely benign" "" "0000541397" "0" "30" "10" "89623742" "89623747" "dup" "0" "02330" "KLLN_000023" "g.89623742_89623747dup" "" "" "" "PTEN(NM_000314.8):c.-490_-485dupGCGGCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87863985_87863990dup" "" "likely benign" "" "0000541398" "0" "30" "10" "89623766" "89623766" "subst" "0" "02330" "KLLN_000024" "g.89623766G>A" "" "" "" "PTEN(NM_000314.8):c.-461G>A, PTEN(NM_001304717.5):c.60G>A (p.R20=, p.(Arg20Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864009G>A" "" "likely benign" "" "0000541399" "0" "30" "10" "89623962" "89623962" "subst" "0" "02330" "KLLN_000025" "g.89623962G>A" "" "" "" "PTEN(NM_000314.8):c.-265G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864205G>A" "" "likely benign" "" "0000541400" "0" "30" "10" "89624062" "89624062" "subst" "0" "02330" "KLLN_000026" "g.89624062C>G" "" "" "" "PTEN(NM_000314.8):c.-165C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864305C>G" "" "likely benign" "" "0000541401" "0" "10" "10" "89624218" "89624218" "subst" "0.00361813" "02327" "PTEN_000023" "g.89624218C>G" "" "" "" "PTEN(NM_000314.8):c.-9C>G, PTEN(NM_001304717.5):c.511C>G (p.(Leu171Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864461C>G" "" "benign" "" "0000541402" "0" "50" "10" "89624267" "89624267" "subst" "0" "02327" "KLLN_000027" "g.89624267G>A" "" "" "" "PTEN(NM_000314.8):c.41G>A (p.R14K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864510G>A" "" "VUS" "" "0000541403" "0" "70" "10" "89624270" "89624270" "subst" "0" "02325" "KLLN_000028" "g.89624270G>C" "" "" "" "PTEN(NM_001304717.5):c.564G>C (p.R188S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864513G>C" "" "likely pathogenic" "" "0000541404" "0" "30" "10" "89653768" "89653768" "subst" "0" "02327" "PTEN_000675" "g.89653768A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87894011A>G" "" "likely benign" "" "0000541405" "0" "50" "10" "89653790" "89653790" "subst" "0" "01943" "PTEN_000676" "g.89653790C>A" "" "" "" "PTEN(NM_000314.4):c.88C>A (p.P30T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87894033C>A" "" "VUS" "" "0000541406" "0" "30" "10" "89653795" "89653795" "subst" "0" "02330" "PTEN_000677" "g.89653795C>T" "" "" "" "PTEN(NM_000314.8):c.93C>T (p.N31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87894038C>T" "" "likely benign" "" "0000541407" "0" "90" "10" "89653835" "89653835" "del" "0" "02327" "PTEN_000678" "g.89653835del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87894078del" "" "pathogenic" "" "0000541408" "0" "50" "10" "89653836" "89653836" "subst" "0" "02327" "PTEN_000679" "g.89653836T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87894079T>A" "" "VUS" "" "0000541409" "0" "50" "10" "89653841" "89653841" "subst" "0" "02325" "PTEN_000680" "g.89653841A>G" "" "" "" "PTEN(NM_000314.8):c.139A>G (p.R47G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87894084A>G" "" "VUS" "" "0000541410" "0" "70" "10" "89685275" "89685275" "subst" "0" "02327" "PTEN_000681" "g.89685275T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87925518T>C" "" "likely pathogenic" "" "0000541411" "0" "90" "10" "89685281" "89685281" "subst" "0" "01943" "PTEN_000682" "g.89685281C>G" "" "" "" "PTEN(NM_000314.4):c.176C>G (p.S59*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87925524C>G" "" "pathogenic" "" "0000541413" "0" "10" "10" "89690796" "89690800" "del" "0" "02330" "PTEN_000140" "g.89690796_89690800del" "" "" "" "PTEN(NM_000314.4):c.210-12_210-8delCTTTT, PTEN(NM_000314.4):c.210-7_210-3del (p.?), PTEN(NM_000314.8):c.210-7_210-3delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87931039_87931043del" "" "benign" "" "0000541414" "0" "30" "10" "89690796" "89690800" "del" "0" "01943" "PTEN_000140" "g.89690796_89690800del" "" "" "" "PTEN(NM_000314.4):c.210-12_210-8delCTTTT, PTEN(NM_000314.4):c.210-7_210-3del (p.?), PTEN(NM_000314.8):c.210-7_210-3delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87931039_87931043del" "" "likely benign" "" "0000541415" "0" "90" "10" "89690848" "89690848" "subst" "0" "02327" "PTEN_000683" "g.89690848T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87931091T>A" "" "pathogenic" "" "0000541416" "0" "90" "10" "89692768" "89692768" "subst" "0" "02327" "PTEN_000684" "g.89692768A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933011A>G" "" "pathogenic" "" "0000541417" "0" "90" "10" "89692794" "89692794" "subst" "0" "02327" "PTEN_000685" "g.89692794A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933037A>G" "" "pathogenic" "" "0000541418" "0" "50" "10" "89692847" "89692847" "subst" "0" "01943" "PTEN_000686" "g.89692847T>C" "" "" "" "PTEN(NM_000314.4):c.331T>C (p.W111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933090T>C" "" "VUS" "" "0000541419" "0" "70" "10" "89692885" "89692885" "subst" "0" "02327" "PTEN_000687" "g.89692885C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933128C>G" "" "likely pathogenic" "" "0000541420" "0" "70" "10" "89692920" "89692920" "subst" "0" "02327" "PTEN_000688" "g.89692920T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933163T>C" "" "likely pathogenic" "" "0000541421" "0" "30" "10" "89692927" "89692927" "subst" "3.24965E-5" "02327" "PTEN_000614" "g.89692927A>G" "" "" "" "PTEN(NM_000314.8):c.411A>G (p.A137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933170A>G" "" "likely benign" "" "0000541422" "0" "50" "10" "89692941" "89692941" "subst" "0" "02327" "PTEN_000689" "g.89692941G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933184G>C" "" "VUS" "" "0000541423" "0" "90" "10" "89692980" "89692980" "subst" "0" "02330" "PTEN_000094" "g.89692980A>G" "" "" "" "PTEN(NM_000314.8):c.464A>G (p.Y155C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933223A>G" "" "pathogenic" "" "0000541424" "0" "90" "10" "89711899" "89711899" "subst" "0" "02330" "PTEN_000079" "g.89711899C>T" "" "" "" "PTEN(NM_000314.8):c.517C>T (p.R173C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87952142C>T" "" "pathogenic" "" "0000541425" "0" "50" "10" "89711980" "89711980" "subst" "0" "02327" "PTEN_000690" "g.89711980T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87952223T>G" "" "VUS" "" "0000541426" "0" "90" "10" "89712018" "89712018" "subst" "0" "02327" "PTEN_000100" "g.89712018T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87952261T>C" "" "pathogenic" "" "0000541427" "0" "90" "10" "89717608" "89717608" "subst" "0" "02330" "PTEN_000376" "g.89717608A>G" "" "" "" "PTEN(NM_000314.8):c.635-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87957851A>G" "" "pathogenic" "" "0000541428" "0" "90" "10" "89717630" "89717630" "subst" "0" "02327" "PTEN_000555" "g.89717630C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87957873C>T" "" "pathogenic" "" "0000541429" "0" "70" "10" "89717712" "89717712" "subst" "0" "01943" "PTEN_000130" "g.89717712C>T" "" "" "" "PTEN(NM_000314.4):c.737C>T (p.P246L, p.(Pro246Leu)), PTEN(NM_000314.8):c.737C>T (p.P246L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87957955C>T" "" "likely pathogenic" "" "0000541430" "0" "50" "10" "89717754" "89717754" "subst" "4.06171E-6" "02327" "PTEN_000691" "g.89717754A>G" "" "" "" "PTEN(NM_000314.4):c.779A>G (p.K260R), PTEN(NM_000314.8):c.779A>G (p.K260R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87957997A>G" "" "VUS" "" "0000541431" "0" "50" "10" "89717754" "89717754" "subst" "4.06171E-6" "02325" "PTEN_000691" "g.89717754A>G" "" "" "" "PTEN(NM_000314.4):c.779A>G (p.K260R), PTEN(NM_000314.8):c.779A>G (p.K260R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87957997A>G" "" "VUS" "" "0000541432" "0" "50" "10" "89717759" "89717759" "subst" "0" "02327" "PTEN_000692" "g.89717759A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87958002A>G" "" "VUS" "" "0000541433" "0" "90" "10" "89717777" "89717777" "subst" "0" "02327" "PTEN_000047" "g.89717777G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87958020G>T" "" "pathogenic" "" "0000541434" "0" "30" "10" "89720617" "89720617" "subst" "0" "02327" "PTEN_000155" "g.89720617C>A" "" "" "" "PTEN(NM_000314.8):c.802-34C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960860C>A" "" "likely benign" "" "0000541435" "0" "30" "10" "89720633" "89720633" "subst" "0" "02329" "PTEN_000693" "g.89720633C>T" "" "" "" "PTEN(NM_000314.8):c.802-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960876C>T" "" "likely benign" "" "0000541436" "0" "10" "10" "89720647" "89720648" "dup" "0" "02330" "PTEN_000623" "g.89720647_89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-17_802-16insTT (p.(=)), PTEN(NM_000314.4):c.802-4_802-3dupTT, PTEN(NM_000314.8):c.802-4_802-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960890_87960891dup" "" "benign" "" "0000541437" "0" "30" "10" "89720648" "89720648" "del" "0" "01804" "PTEN_000620" "g.89720648del" "" "" "" "PTEN(NM_000314.4):c.802-15del (p.(=)), PTEN(NM_000314.4):c.802-17delT, PTEN(NM_000314.8):c.802-3delT, PTEN(NM_001304718.2):c.211-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960891del" "" "likely benign" "" "0000541438" "0" "10" "10" "89720648" "89720648" "dup" "0" "02330" "PTEN_000214" "g.89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-15_802-14insT (p.(=)), PTEN(NM_000314.4):c.802-18_802-17insT, PTEN(NM_000314.4):c.802-2dupT, PTEN(NM_000314.8):c.802-3dupT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960891dup" "" "benign" "" "0000541439" "0" "30" "10" "89720648" "89720648" "dup" "0" "01804" "PTEN_000214" "g.89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-15_802-14insT (p.(=)), PTEN(NM_000314.4):c.802-18_802-17insT, PTEN(NM_000314.4):c.802-2dupT, PTEN(NM_000314.8):c.802-3dupT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960891dup" "" "likely benign" "" "0000541442" "0" "50" "10" "89720714" "89720714" "subst" "8.13319E-6" "02327" "PTEN_000224" "g.89720714A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960957A>G" "" "VUS" "" "0000541443" "0" "90" "10" "89720803" "89720803" "del" "0" "02325" "PTEN_000696" "g.89720803del" "" "" "" "PTEN(NM_001304718.2):c.362delT (p.L121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87961046del" "" "pathogenic" "" "0000541444" "0" "70" "10" "89720808" "89720808" "subst" "0" "01943" "PTEN_000650" "g.89720808T>A" "" "" "" "PTEN(NM_001304718.2):c.368T>A (p.L123*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87961051T>A" "" "likely pathogenic" "" "0000541445" "0" "50" "10" "89720852" "89720852" "subst" "0" "02327" "PTEN_000697" "g.89720852C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87961095C>G" "" "VUS" "" "0000541446" "0" "90" "10" "89720856" "89720856" "dup" "0" "01804" "PTEN_000065" "g.89720856dup" "" "" "" "PTEN(NM_000314.4):c.1006_1007insA (p.(Tyr336Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87961099dup" "" "pathogenic" "" "0000541447" "0" "50" "10" "89720880" "89720880" "subst" "0" "02327" "PTEN_000698" "g.89720880G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87961123G>A" "" "VUS" "" "0000541448" "0" "50" "10" "89725077" "89725077" "subst" "0" "01943" "PTEN_000699" "g.89725077C>A" "" "" "" "PTEN(NM_000314.4):c.1060C>A (p.P354T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87965320C>A" "" "VUS" "" "0000541449" "0" "50" "10" "89725078" "89725078" "subst" "8.33792E-5" "02330" "PTEN_000584" "g.89725078C>A" "" "" "" "PTEN(NM_000314.4):c.1061C>A (p.(Pro354Gln), p.P354Q), PTEN(NM_000314.8):c.1061C>A (p.P354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87965321C>A" "" "VUS" "" "0000541450" "0" "30" "10" "89725078" "89725078" "subst" "8.33792E-5" "02327" "PTEN_000584" "g.89725078C>A" "" "" "" "PTEN(NM_000314.4):c.1061C>A (p.(Pro354Gln), p.P354Q), PTEN(NM_000314.8):c.1061C>A (p.P354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87965321C>A" "" "likely benign" "" "0000598475" "0" "90" "10" "89653800" "89653800" "delins" "0" "02551" "PTEN_000700" "g.89653800delinsAA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.87894043delinsAA" "" "pathogenic" "" "0000612759" "0" "30" "10" "89624003" "89624003" "subst" "0" "02330" "KLLN_000030" "g.89624003C>T" "" "" "" "PTEN(NM_000314.8):c.-224C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864246C>T" "" "likely benign" "" "0000612760" "0" "30" "10" "89624312" "89624312" "subst" "0" "01943" "PTEN_000330" "g.89624312A>T" "" "" "" "PTEN(NM_000314.4):c.79+7A>T (p.(=)), PTEN(NM_001304718.2):c.-627+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864555A>T" "" "likely benign" "" "0000612761" "0" "10" "10" "89653834" "89653834" "subst" "0.00150501" "02330" "PTEN_000334" "g.89653834C>T" "" "" "" "PTEN(NM_000314.4):c.132C>T (p.G44=, p.(Gly44=)), PTEN(NM_000314.8):c.132C>T (p.G44=), PTEN(NM_001304717.5):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87894077C>T" "" "benign" "" "0000612762" "0" "50" "10" "89692798" "89692799" "ins" "0" "02330" "PTEN_000701" "g.89692798_89692799insTTA" "" "" "" "PTEN(NM_000314.8):c.282_283insTTA (p.N94_P95insL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933041_87933042insTTA" "" "VUS" "" "0000612763" "0" "70" "10" "89692849" "89692849" "subst" "0" "02327" "PTEN_000702" "g.89692849G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933092G>T" "" "likely pathogenic" "" "0000612764" "0" "70" "10" "89692908" "89692908" "subst" "0" "02327" "PTEN_000703" "g.89692908C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933151C>A" "" "likely pathogenic" "" "0000612765" "0" "90" "10" "89692911" "89692911" "subst" "0" "02327" "PTEN_000078" "g.89692911G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933154G>A" "" "pathogenic" "" "0000612766" "0" "90" "10" "89692929" "89692929" "subst" "0" "02327" "PTEN_000704" "g.89692929A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933172A>G" "" "pathogenic" "" "0000612767" "0" "90" "10" "89692980" "89692980" "subst" "0" "02325" "PTEN_000094" "g.89692980A>G" "" "" "" "PTEN(NM_000314.8):c.464A>G (p.Y155C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933223A>G" "" "pathogenic" "" "0000612768" "0" "70" "10" "89711945" "89711945" "subst" "0" "01943" "PTEN_000705" "g.89711945A>G" "" "" "" "PTEN(NM_000314.4):c.563A>G (p.Y188C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87952188A>G" "" "likely pathogenic" "" "0000612769" "0" "90" "10" "89717716" "89717716" "dup" "0" "02327" "PTEN_000706" "g.89717716dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87957959dup" "" "pathogenic" "" "0000622451" "0" "30" "10" "89623739" "89623741" "del" "0" "02330" "KLLN_000029" "g.89623739_89623741del" "" "" "" "PTEN(NM_000314.8):c.-488_-486delGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87863982_87863984del" "" "likely benign" "" "0000622452" "0" "10" "10" "89624218" "89624218" "subst" "0.00361813" "02330" "PTEN_000023" "g.89624218C>G" "" "" "" "PTEN(NM_000314.8):c.-9C>G, PTEN(NM_001304717.5):c.511C>G (p.(Leu171Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864461C>G" "" "benign" "" "0000647277" "0" "70" "10" "89711899" "89711899" "subst" "0" "01164" "PTEN_000079" "g.89711899C>T" "" "" "" "" "ACMG: PS4,PM2,PP3,PP5; Lachlan et al. 2007. J 44: 579" "Germline" "" "rs121913293" "0" "" "" "g.87952142C>T" "" "likely pathogenic" "ACMG" "0000648023" "1" "50" "10" "89685307" "89685307" "subst" "0" "03575" "PTEN_000484" "g.89685307T>A" "6/2749 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs398123317}" "Germline" "" "rs398123317" "0" "" "" "g.87925550T>A" "" "VUS" "" "0000648024" "1" "90" "10" "89692901" "89692901" "subst" "0" "03575" "PTEN_000707" "g.89692901G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786204929}" "Germline" "" "rs786204929" "0" "" "" "g.87933144G>A" "" "pathogenic" "" "0000648025" "1" "90" "10" "89692923" "89692923" "subst" "0" "03575" "PTEN_000049" "g.89692923G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786204859}" "Germline" "" "rs786204859" "0" "" "" "g.87933166G>A" "" "pathogenic" "" "0000648026" "1" "90" "10" "89717712" "89717712" "subst" "0" "03575" "PTEN_000130" "g.89717712C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587782350}" "Germline" "" "rs587782350" "0" "" "" "g.87957955C>T" "" "pathogenic" "" "0000648027" "1" "90" "10" "89720805" "89720808" "del" "0" "03575" "PTEN_000301" "g.89720805_89720808del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123330}" "Germline" "" "rs398123330" "0" "" "" "g.87961048_87961051del" "" "pathogenic" "" "0000648028" "1" "50" "10" "89725083" "89725083" "subst" "4.16188E-6" "03575" "PTEN_000585" "g.89725083A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587782345}" "Germline" "" "rs587782345" "0" "" "" "g.87965326A>G" "" "VUS" "" "0000652975" "1" "70" "10" "89690847" "89690847" "subst" "0" "03575" "PTEN_000346" "g.89690847G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs587776667}" "Germline" "" "rs587776667" "0" "" "" "g.87931090G>A" "" "likely pathogenic" "" "0000653442" "0" "50" "10" "89623389" "89623389" "subst" "0" "01164" "PTEN_000708" "g.89623389C>T" "" "" "" "" "CRC (e.g. HNPCC) at age 47y, no immunhistochemical data.\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs786201900" "0" "" "" "" "" "VUS" "ACMG" "0000656590" "0" "90" "10" "89624245" "89624245" "subst" "0" "02327" "KLLN_000031" "g.89624245G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87864488G>T" "" "pathogenic" "" "0000656592" "0" "30" "10" "89690850" "89690853" "del" "0" "02329" "PTEN_000709" "g.89690850_89690853del" "" "" "" "PTEN(NM_000314.8):c.252_253+2delAGGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87931093_87931096del" "" "likely benign" "" "0000656593" "0" "30" "10" "89692866" "89692866" "subst" "8.12949E-6" "02330" "PTEN_000710" "g.89692866A>G" "" "" "" "PTEN(NM_000314.4):c.350A>G (p.(Asn117Ser)), PTEN(NM_000314.8):c.350A>G (p.N117S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87933109A>G" "" "likely benign" "" "0000656594" "0" "10" "10" "89720646" "89720648" "dup" "0" "02330" "PTEN_000711" "g.89720646_89720648dup" "" "" "" "PTEN(NM_000314.8):c.802-5_802-3dupTTT, PTEN(NM_001304718.2):c.211-5_211-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960889_87960891dup" "" "benign" "" "0000656595" "0" "10" "10" "89720647" "89720648" "dup" "0" "02326" "PTEN_000623" "g.89720647_89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-17_802-16insTT (p.(=)), PTEN(NM_000314.4):c.802-4_802-3dupTT, PTEN(NM_000314.8):c.802-4_802-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960890_87960891dup" "" "benign" "" "0000656596" "0" "90" "10" "89720650" "89720650" "subst" "0" "02327" "PTEN_000712" "g.89720650G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87960893G>A" "" "pathogenic" "" "0000656597" "0" "50" "10" "89720772" "89720772" "subst" "8.12916E-6" "02327" "PTEN_000659" "g.89720772G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87961015G>A" "" "VUS" "" "0000678947" "0" "30" "10" "89623766" "89623766" "subst" "0" "01943" "KLLN_000024" "g.89623766G>A" "" "" "" "PTEN(NM_000314.8):c.-461G>A, PTEN(NM_001304717.5):c.60G>A (p.R20=, p.(Arg20Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678948" "0" "30" "10" "89623885" "89623885" "subst" "0" "01943" "KLLN_000032" "g.89623885G>A" "" "" "" "PTEN(NM_001304717.5):c.179G>A (p.G60D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678949" "0" "30" "10" "89624312" "89624312" "subst" "0" "01804" "PTEN_000330" "g.89624312A>T" "" "" "" "PTEN(NM_000314.4):c.79+7A>T (p.(=)), PTEN(NM_001304718.2):c.-627+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678950" "0" "30" "10" "89711961" "89711961" "subst" "0.000101705" "02329" "PTEN_000545" "g.89711961G>A" "" "" "" "PTEN(NM_000314.8):c.579G>A (p.L193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678951" "0" "50" "10" "89717707" "89717707" "subst" "0" "02325" "PTEN_000713" "g.89717707T>C" "" "" "" "PTEN(NM_000314.8):c.732T>C (p.P244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678952" "0" "90" "10" "89720876" "89720876" "subst" "0" "02329" "PTEN_000582" "g.89720876G>C" "" "" "" "PTEN(NM_000314.8):c.1026+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678953" "0" "30" "10" "89725121" "89725121" "subst" "0.000443402" "01943" "PTEN_000586" "g.89725121T>C" "" "" "" "PTEN(NM_000314.8):c.1104T>C (p.D368=), PTEN(NM_001304717.5):c.1624T>C (p.F542L), PTEN(NM_001304718.2):c.513T>C (p.I171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683338" "0" "70" "10" "89717672" "89717672" "subst" "0" "00006" "PTEN_000017" "g.89717672C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs121909219" "0" "" "" "g.87957915C>T" "" "likely pathogenic (dominant)" "" "0000683386" "0" "70" "10" "89653851" "89653851" "subst" "0" "00006" "PTEN_000714" "g.89653851T>C" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87894094T>C" "" "likely pathogenic (dominant)" "" "0000686955" "11" "10" "10" "89623740" "89623742" "dup" "0" "03763" "KLLN_000022" "g.89623740_89623742dup" "" "{PMID:Kaiwar 2017:28963436}" "" "5\'UTR 488_486dupGGC" "" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000687735" "0" "90" "10" "89653805" "89653805" "subst" "0" "01164" "PTEN_000080" "g.89653805A>G" "" "Tan et al. 2011. Am J Hum Genet 88: 42" "" "" "ACMG grading: PS2,PS4,PM2,PP2\r\n2y old girl with mild developmental delay and macrocephaly" "Germline" "" "rs876659443" "0" "" "" "" "" "pathogenic" "ACMG" "0000690819" "0" "50" "10" "89621905" "89621906" "del" "0.00142195" "01943" "KLLN_000006" "g.89621905_89621906del" "" "" "" "KLLN(NM_001126049.1):c.339_340del (p.(Ala115SerfsTer58)), KLLN(NM_001126049.1):c.339_340delAG (p.A115Sfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690820" "0" "30" "10" "89624096" "89624096" "subst" "0" "02330" "KLLN_000033" "g.89624096A>G" "" "" "" "PTEN(NM_000314.8):c.-131A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690821" "0" "70" "10" "89653799" "89653801" "del" "0" "02325" "PTEN_000042" "g.89653799_89653801del" "" "" "" "PTEN(NM_000314.8):c.97_99delATT (p.I33del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690822" "0" "70" "10" "89685307" "89685307" "subst" "0" "02329" "PTEN_000484" "g.89685307T>A" "" "" "" "PTEN(NM_000314.8):c.202T>A (p.Y68N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690823" "0" "90" "10" "89685315" "89685315" "subst" "0" "02327" "PTEN_000043" "g.89685315G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690824" "0" "70" "10" "89692871" "89692871" "subst" "0" "02327" "PTEN_000613" "g.89692871G>T" "" "" "" "PTEN(NM_001304717.5):c.875G>T (p.G292V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690825" "0" "70" "10" "89692977" "89692977" "subst" "0" "02325" "PTEN_000359" "g.89692977T>G" "" "" "" "PTEN(NM_000314.8):c.461T>G (p.F154C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690826" "0" "30" "10" "89711994" "89711994" "subst" "3.66955E-5" "02327" "PTEN_000715" "g.89711994A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722996" "0" "70" "10" "89653805" "89653805" "subst" "0" "02329" "PTEN_000080" "g.89653805A>G" "" "" "" "PTEN(NM_000314.8):c.103A>G (p.(Met35Val), p.M35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722997" "0" "50" "10" "89653857" "89653859" "del" "0" "01943" "PTEN_000210" "g.89653857_89653859del" "" "" "" "PTEN(NM_000314.4):c.155_157delATG (p.D52del), PTEN(NM_001304717.5):c.670_672delTGA (p.D225del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722998" "0" "70" "10" "89685271" "89685271" "subst" "0" "02327" "PTEN_000716" "g.89685271T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722999" "0" "90" "10" "89685315" "89685316" "del" "0" "02329" "PTEN_000141" "g.89685315_89685316del" "" "" "" "PTEN(NM_000314.8):c.209_209+1delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723000" "0" "90" "10" "89692923" "89692923" "subst" "0" "02327" "PTEN_000049" "g.89692923G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723001" "0" "50" "10" "89711995" "89711995" "subst" "1.22342E-5" "02327" "PTEN_000549" "g.89711995A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723002" "0" "90" "10" "89712015" "89712015" "subst" "4.10098E-6" "02329" "PTEN_000086" "g.89712015C>A" "" "" "" "PTEN(NM_000314.4):c.633C>A (p.C211*), PTEN(NM_000314.8):c.633C>A (p.C211*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723003" "0" "30" "10" "89717594" "89717594" "subst" "1.62492E-5" "02329" "PTEN_000717" "g.89717594G>A" "" "" "" "PTEN(NM_000314.8):c.635-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723004" "0" "90" "10" "89717615" "89717615" "subst" "0" "02327" "PTEN_000016" "g.89717615C>T" "" "" "" "PTEN(NM_000314.8):c.640C>T (p.Q214*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723005" "0" "90" "10" "89717654" "89717654" "del" "0" "02325" "PTEN_000718" "g.89717654del" "" "" "" "PTEN(NM_000314.8):c.679delT (p.S227Pfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723006" "0" "90" "10" "89717756" "89717756" "subst" "0" "02325" "PTEN_000719" "g.89717756C>T" "" "" "" "PTEN(NM_000314.4):c.781C>T (p.Gln261*), PTEN(NM_000314.8):c.781C>T (p.Q261*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723007" "0" "10" "10" "89720548" "89720548" "subst" "0" "02327" "PTEN_000720" "g.89720548A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723008" "0" "30" "10" "89725078" "89725078" "subst" "8.33792E-5" "02329" "PTEN_000584" "g.89725078C>A" "" "" "" "PTEN(NM_000314.4):c.1061C>A (p.(Pro354Gln), p.P354Q), PTEN(NM_000314.8):c.1061C>A (p.P354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000737088" "1" "50" "10" "89711930" "89711930" "dup" "0" "04020" "PTEN_000231" "g.89711930dup" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711927_T_TA" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741968" "1" "50" "10" "89624228" "89624228" "subst" "0" "04020" "PTEN_000721" "g.89624228T>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89624228_T_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741969" "1" "50" "10" "89624230" "89624230" "subst" "4.06065E-6" "04020" "PTEN_000722" "g.89624230A>G" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89624230_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741970" "1" "50" "10" "89624239" "89624239" "subst" "0" "04020" "PTEN_000723" "g.89624239A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89624239_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741971" "1" "50" "10" "89624285" "89624285" "subst" "0" "04020" "PTEN_000725" "g.89624285G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89624285_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741972" "1" "50" "10" "89653796" "89653796" "subst" "0" "04020" "PTEN_000731" "g.89653796A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653796_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741973" "1" "50" "10" "89653799" "89653799" "subst" "0" "04020" "PTEN_000732" "g.89653799A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653799_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741974" "1" "50" "10" "89653803" "89653803" "subst" "0" "04020" "PTEN_000733" "g.89653803C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653803_C_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741975" "1" "50" "10" "89653803" "89653803" "subst" "0" "04020" "PTEN_000734" "g.89653803C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653803_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741976" "1" "50" "10" "89653817" "89653817" "subst" "0" "04020" "PTEN_000738" "g.89653817G>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653817_G_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741977" "1" "50" "10" "89653824" "89653824" "subst" "0" "04020" "PTEN_000740" "g.89653824G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653824_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741978" "1" "50" "10" "89653838" "89653838" "subst" "0" "04020" "PTEN_000743" "g.89653838T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653838_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741979" "1" "50" "10" "89653845" "89653845" "subst" "0" "04020" "PTEN_000744" "g.89653845A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653845_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741980" "1" "50" "10" "89653866" "89653866" "subst" "0" "04020" "PTEN_000748" "g.89653866G>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653866_G_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741981" "1" "50" "10" "89653868" "89653868" "subst" "0" "04020" "PTEN_000750" "g.89653868T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653868_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741982" "1" "50" "10" "89685278" "89685278" "subst" "0" "04020" "PTEN_000752" "g.89685278A>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89685278_A_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741983" "1" "50" "10" "89685298" "89685298" "subst" "0" "04020" "PTEN_000755" "g.89685298T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89685298_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741984" "1" "50" "10" "89692772" "89692772" "subst" "0" "04020" "PTEN_000757" "g.89692772G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692772_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741985" "1" "50" "10" "89692818" "89692818" "subst" "0" "04020" "PTEN_000502" "g.89692818T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692818_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741986" "1" "50" "10" "89692861" "89692861" "subst" "0" "04020" "PTEN_000759" "g.89692861T>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692861_T_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741987" "1" "50" "10" "89692866" "89692866" "subst" "8.12949E-6" "04020" "PTEN_000710" "g.89692866A>G" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692866_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741988" "1" "50" "10" "89692880" "89692880" "subst" "0" "04020" "PTEN_000640" "g.89692880A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692880_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741989" "1" "50" "10" "89692955" "89692955" "subst" "0" "04020" "PTEN_000762" "g.89692955A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692955_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741990" "1" "50" "10" "89692998" "89692998" "subst" "0" "04020" "PTEN_000765" "g.89692998G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692998_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741991" "1" "50" "10" "89711938" "89711938" "subst" "0" "04020" "PTEN_000052" "g.89711938C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711938_C_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741992" "1" "50" "10" "89711977" "89711977" "subst" "0" "04020" "PTEN_000772" "g.89711977A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711977_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741993" "1" "50" "10" "89711979" "89711979" "subst" "0" "04020" "PTEN_000773" "g.89711979G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711979_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741994" "1" "50" "10" "89712013" "89712013" "subst" "0" "04020" "PTEN_000775" "g.89712013T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89712013_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741995" "1" "50" "10" "89717622" "89717622" "subst" "0" "04020" "PTEN_000780" "g.89717622T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717622_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741996" "1" "50" "10" "89717633" "89717633" "subst" "0" "04020" "PTEN_000556" "g.89717633C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717633_C_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741997" "1" "50" "10" "89717655" "89717655" "subst" "0" "04020" "PTEN_000784" "g.89717655C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717655_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741998" "1" "50" "10" "89717658" "89717658" "subst" "4.06111E-6" "04020" "PTEN_000785" "g.89717658A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717658_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741999" "1" "50" "10" "89717684" "89717684" "subst" "0" "04020" "PTEN_000786" "g.89717684A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717684_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742000" "1" "50" "10" "89717709" "89717709" "subst" "0" "04020" "PTEN_000788" "g.89717709A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717709_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742001" "1" "50" "10" "89717724" "89717724" "subst" "0" "04020" "PTEN_000790" "g.89717724G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717724_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742002" "1" "50" "10" "89720690" "89720690" "subst" "0" "04020" "PTEN_000796" "g.89720690C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720690_C_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742003" "1" "50" "10" "89720756" "89720756" "subst" "0" "04020" "PTEN_000805" "g.89720756A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720756_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742004" "1" "50" "10" "89720763" "89720763" "subst" "0" "04020" "PTEN_000806" "g.89720763G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720763_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742005" "1" "50" "10" "89720769" "89720769" "subst" "0" "04020" "PTEN_000656" "g.89720769A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720769_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742006" "1" "50" "10" "89720805" "89720805" "subst" "0" "04020" "PTEN_000809" "g.89720805C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720805_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742007" "1" "50" "10" "89720858" "89720858" "subst" "0" "04020" "PTEN_000812" "g.89720858T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720858_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742008" "1" "50" "10" "89720873" "89720873" "subst" "0" "04020" "PTEN_000813" "g.89720873A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720873_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742009" "1" "50" "10" "89725155" "89725155" "subst" "0" "04020" "PTEN_000819" "g.89725155T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725155_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742010" "1" "50" "10" "89725187" "89725187" "subst" "0" "04020" "PTEN_000627" "g.89725187A>C" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725187_A_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743219" "1" "50" "10" "89653865" "89653865" "del" "0" "04020" "PTEN_000747" "g.89653865del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653863_TA_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743220" "1" "50" "10" "89692791" "89692791" "dup" "0" "04020" "PTEN_000758" "g.89692791dup" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692790_G_GA" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743221" "1" "50" "10" "89692908" "89692908" "dup" "0" "04020" "PTEN_000630" "g.89692908dup" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692907_A_AC" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743222" "1" "50" "10" "89712013" "89712013" "del" "0" "04020" "PTEN_000776" "g.89712013del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89712011_CT_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743223" "1" "50" "10" "89712013" "89712013" "dup" "0" "04020" "PTEN_000777" "g.89712013dup" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89712011_C_CT" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743224" "1" "50" "10" "89720804" "89720807" "del" "0" "04020" "PTEN_000102" "g.89720804_89720807del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720798_GTACT_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743225" "1" "50" "10" "89720804" "89720804" "dup" "0" "04020" "PTEN_000229" "g.89720804dup" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720803_T_TA" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743288" "1" "50" "10" "89693001" "89693003" "delins" "0" "04020" "PTEN_000766" "g.89693001_89693003delinsCC" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89693001_ACA_CC" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743289" "1" "50" "10" "89717616" "89717616" "del" "0" "04020" "PTEN_000779" "g.89717616del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717615_CA_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749113" "1" "50" "10" "89624282" "89624282" "subst" "0" "04020" "PTEN_000724" "g.89624282A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89624282_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749114" "1" "50" "10" "89624302" "89624302" "subst" "0" "04020" "PTEN_000727" "g.89624302A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89624302_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749115" "1" "50" "10" "89653781" "89653781" "subst" "0" "04020" "PTEN_000729" "g.89653781G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653781_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749116" "1" "50" "10" "89653793" "89653793" "subst" "0" "04020" "PTEN_000730" "g.89653793A>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653793_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749117" "1" "50" "10" "89653806" "89653806" "subst" "0" "04020" "PTEN_000735" "g.89653806T>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653806_T_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749118" "1" "50" "10" "89653812" "89653812" "subst" "0" "04020" "PTEN_000736" "g.89653812T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653812_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749119" "1" "50" "10" "89653815" "89653815" "subst" "0" "04020" "PTEN_000737" "g.89653815C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653815_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749120" "1" "50" "10" "89653823" "89653823" "subst" "0" "04020" "PTEN_000739" "g.89653823A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653823_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749121" "1" "50" "10" "89653827" "89653827" "subst" "0" "04020" "PTEN_000741" "g.89653827T>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653827_T_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749122" "1" "50" "10" "89653841" "89653841" "subst" "0" "04020" "PTEN_000680" "g.89653841A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653841_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749123" "1" "50" "10" "89653848" "89653848" "subst" "0" "04020" "PTEN_000745" "g.89653848A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653848_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749124" "1" "50" "10" "89653857" "89653857" "subst" "0" "04020" "PTEN_000746" "g.89653857A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653857_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749125" "1" "50" "10" "89653867" "89653867" "subst" "0" "04020" "PTEN_000749" "g.89653867G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653867_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749126" "1" "50" "10" "89685277" "89685277" "subst" "0" "04020" "PTEN_000751" "g.89685277G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89685277_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749127" "1" "50" "10" "89685283" "89685283" "subst" "0" "04020" "PTEN_000753" "g.89685283A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89685283_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749128" "1" "50" "10" "89685293" "89685293" "subst" "0" "04020" "PTEN_000754" "g.89685293A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89685293_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749129" "1" "50" "10" "89685315" "89685315" "subst" "0" "04020" "PTEN_000099" "g.89685315G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89685315_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749130" "1" "50" "10" "89692768" "89692768" "subst" "0" "04020" "PTEN_000756" "g.89692768A>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692768_A_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749131" "1" "50" "10" "89692768" "89692768" "subst" "0" "04020" "PTEN_000684" "g.89692768A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692768_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749132" "1" "50" "10" "89692800" "89692800" "subst" "0" "04020" "PTEN_000348" "g.89692800C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692800_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749133" "1" "50" "10" "89692883" "89692883" "subst" "0" "04020" "PTEN_000760" "g.89692883C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692883_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749134" "1" "50" "10" "89692892" "89692892" "subst" "0" "04020" "PTEN_000512" "g.89692892G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692892_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749135" "1" "50" "10" "89692904" "89692904" "subst" "1.21875E-5" "04020" "PTEN_000013" "g.89692904C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692904_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749136" "1" "50" "10" "89692920" "89692920" "subst" "0" "04020" "PTEN_000688" "g.89692920T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692920_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749137" "1" "50" "10" "89692922" "89692922" "subst" "0" "04020" "PTEN_000129" "g.89692922T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692922_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749138" "1" "50" "10" "89692940" "89692940" "subst" "4.0624E-6" "04020" "PTEN_000523" "g.89692940C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692940_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749139" "1" "50" "10" "89692948" "89692948" "subst" "0" "04020" "PTEN_000761" "g.89692948A>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692948_A_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749140" "1" "50" "10" "89692961" "89692961" "subst" "0" "04020" "PTEN_000764" "g.89692961C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692961_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749141" "1" "50" "10" "89693007" "89693007" "subst" "0" "04020" "PTEN_000767" "g.89693007A>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89693007_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749142" "1" "50" "10" "89711874" "89711874" "subst" "0" "04020" "PTEN_000768" "g.89711874G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711874_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749143" "1" "50" "10" "89711905" "89711905" "subst" "0" "04020" "PTEN_000769" "g.89711905G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711905_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749144" "1" "50" "10" "89711906" "89711906" "subst" "0" "04020" "PTEN_000770" "g.89711906T>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711906_T_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749145" "1" "50" "10" "89711922" "89711922" "subst" "0" "04020" "PTEN_000370" "g.89711922C>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711922_C_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749146" "1" "50" "10" "89711943" "89711943" "subst" "0" "04020" "PTEN_000771" "g.89711943T>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711943_T_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749147" "1" "50" "10" "89711995" "89711995" "subst" "1.22342E-5" "04020" "PTEN_000549" "g.89711995A>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711995_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749148" "1" "50" "10" "89711998" "89711998" "subst" "0" "04020" "PTEN_000774" "g.89711998T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89711998_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749149" "1" "50" "10" "89712017" "89712017" "subst" "0" "04020" "PTEN_000373" "g.89712017G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89712017_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749150" "1" "50" "10" "89717609" "89717609" "subst" "0" "04020" "PTEN_000778" "g.89717609G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717609_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749151" "1" "50" "10" "89717631" "89717631" "subst" "0" "04020" "PTEN_000781" "g.89717631A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717631_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749152" "1" "50" "10" "89717636" "89717636" "subst" "0" "04020" "PTEN_000782" "g.89717636A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717636_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749153" "1" "50" "10" "89717705" "89717705" "subst" "0" "04020" "PTEN_000787" "g.89717705C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717705_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749154" "1" "50" "10" "89717718" "89717718" "subst" "4.06167E-6" "04020" "PTEN_000789" "g.89717718C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717718_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749155" "1" "50" "10" "89717736" "89717736" "subst" "0" "04020" "PTEN_000791" "g.89717736A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717736_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749156" "1" "50" "10" "89717744" "89717744" "subst" "0" "04020" "PTEN_000792" "g.89717744T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717744_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749157" "1" "50" "10" "89717756" "89717756" "subst" "0" "04020" "PTEN_000719" "g.89717756C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717756_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749158" "1" "50" "10" "89717771" "89717771" "subst" "0" "04020" "PTEN_000793" "g.89717771A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717771_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749159" "1" "50" "10" "89720669" "89720669" "subst" "0" "04020" "PTEN_000794" "g.89720669T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720669_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749160" "1" "50" "10" "89720685" "89720685" "subst" "0" "04020" "PTEN_000795" "g.89720685T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720685_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749161" "1" "50" "10" "89720691" "89720691" "subst" "0" "04020" "PTEN_000797" "g.89720691C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720691_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749162" "1" "50" "10" "89720711" "89720711" "subst" "0" "04020" "PTEN_000798" "g.89720711G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720711_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749163" "1" "50" "10" "89720726" "89720726" "subst" "0" "04020" "PTEN_000799" "g.89720726G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720726_G_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749164" "1" "50" "10" "89720730" "89720730" "subst" "0" "04020" "PTEN_000800" "g.89720730G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720730_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749165" "1" "50" "10" "89720738" "89720738" "subst" "0" "04020" "PTEN_000801" "g.89720738G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720738_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749166" "1" "50" "10" "89720738" "89720738" "subst" "0" "04020" "PTEN_000802" "g.89720738G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720738_G_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749167" "1" "50" "10" "89720741" "89720741" "subst" "1.21943E-5" "04020" "PTEN_000803" "g.89720741C>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720741_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749168" "1" "50" "10" "89720771" "89720771" "subst" "0" "04020" "PTEN_000807" "g.89720771C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720771_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749169" "1" "50" "10" "89720778" "89720778" "subst" "0" "04020" "PTEN_000808" "g.89720778A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720778_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749170" "1" "50" "10" "89720823" "89720823" "subst" "0" "04020" "PTEN_000810" "g.89720823T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720823_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749171" "1" "50" "10" "89725095" "89725095" "subst" "4.17809E-6" "04020" "PTEN_000815" "g.89725095A>G" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725095_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749172" "1" "50" "10" "89725098" "89725098" "subst" "4.18176E-6" "04020" "PTEN_000816" "g.89725098A>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725098_A_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749173" "1" "50" "10" "89725110" "89725110" "subst" "0" "04020" "PTEN_000817" "g.89725110G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725110_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749174" "1" "50" "10" "89725129" "89725129" "subst" "0" "04020" "PTEN_000818" "g.89725129A>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725129_A_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749175" "1" "50" "10" "89725177" "89725177" "subst" "0" "04020" "PTEN_000820" "g.89725177C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725177_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754171" "1" "50" "10" "89624287" "89624287" "subst" "0" "04020" "PTEN_000726" "g.89624287T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89624287_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754172" "1" "50" "10" "89653780" "89653780" "subst" "0" "04020" "PTEN_000728" "g.89653780A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653780_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754173" "1" "50" "10" "89653836" "89653836" "subst" "0" "04020" "PTEN_000742" "g.89653836T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653836_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754174" "1" "50" "10" "89690828" "89690828" "subst" "0.000106134" "04020" "PTEN_000248" "g.89690828G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89690828_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754175" "1" "50" "10" "89692956" "89692956" "subst" "1.21903E-5" "04020" "PTEN_000763" "g.89692956A>G" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692956_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754176" "1" "50" "10" "89717648" "89717648" "subst" "0" "04020" "PTEN_000783" "g.89717648T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717648_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754177" "1" "50" "10" "89717754" "89717754" "subst" "4.06171E-6" "04020" "PTEN_000691" "g.89717754A>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717754_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754178" "1" "50" "10" "89720708" "89720708" "subst" "0" "04020" "PTEN_000071" "g.89720708T>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720708_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754179" "1" "50" "10" "89720750" "89720750" "subst" "8.13001E-6" "04020" "PTEN_000804" "g.89720750G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720750_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754180" "1" "50" "10" "89720772" "89720772" "subst" "8.12916E-6" "04020" "PTEN_000659" "g.89720772G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720772_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754181" "1" "50" "10" "89720850" "89720850" "subst" "0" "04020" "PTEN_000811" "g.89720850A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720850_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754182" "1" "50" "10" "89720852" "89720852" "subst" "0" "04020" "PTEN_000018" "g.89720852C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720852_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754183" "1" "50" "10" "89725078" "89725078" "subst" "8.33792E-5" "04020" "PTEN_000584" "g.89725078C>A" "16/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725078_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754184" "1" "50" "10" "89725078" "89725078" "subst" "8.33792E-6" "04020" "PTEN_000814" "g.89725078C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725078_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754185" "1" "50" "10" "89725188" "89725188" "subst" "8.33528E-6" "04020" "PTEN_000821" "g.89725188C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725188_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758945" "1" "50" "10" "89624287" "89624287" "subst" "0" "04020" "PTEN_000726" "g.89624287T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89624287_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758946" "1" "50" "10" "89653780" "89653780" "subst" "0" "04020" "PTEN_000728" "g.89653780A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653780_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758947" "1" "50" "10" "89653836" "89653836" "subst" "0" "04020" "PTEN_000742" "g.89653836T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89653836_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758948" "1" "50" "10" "89690828" "89690828" "subst" "0.000106134" "04020" "PTEN_000248" "g.89690828G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89690828_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758949" "1" "50" "10" "89692956" "89692956" "subst" "1.21903E-5" "04020" "PTEN_000763" "g.89692956A>G" "11/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89692956_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758950" "1" "50" "10" "89717648" "89717648" "subst" "0" "04020" "PTEN_000783" "g.89717648T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717648_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758951" "1" "50" "10" "89717754" "89717754" "subst" "4.06171E-6" "04020" "PTEN_000691" "g.89717754A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89717754_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758952" "1" "50" "10" "89720708" "89720708" "subst" "0" "04020" "PTEN_000071" "g.89720708T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720708_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758953" "1" "50" "10" "89720750" "89720750" "subst" "8.13001E-6" "04020" "PTEN_000804" "g.89720750G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720750_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758954" "1" "50" "10" "89720772" "89720772" "subst" "8.12916E-6" "04020" "PTEN_000659" "g.89720772G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720772_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758955" "1" "50" "10" "89720850" "89720850" "subst" "0" "04020" "PTEN_000811" "g.89720850A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720850_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758956" "1" "50" "10" "89720852" "89720852" "subst" "0" "04020" "PTEN_000018" "g.89720852C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89720852_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758957" "1" "50" "10" "89725078" "89725078" "subst" "8.33792E-5" "04020" "PTEN_000584" "g.89725078C>A" "6/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725078_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758958" "1" "50" "10" "89725078" "89725078" "subst" "8.33792E-6" "04020" "PTEN_000814" "g.89725078C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725078_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758959" "1" "50" "10" "89725188" "89725188" "subst" "8.33528E-6" "04020" "PTEN_000821" "g.89725188C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr10_89725188_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000786997" "0" "70" "10" "89692820" "89692820" "subst" "0" "00006" "PTEN_000822" "g.89692820A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.87933063A>T" "" "likely pathogenic" "" "0000795090" "0" "90" "10" "89685307" "89685307" "subst" "0" "01164" "PTEN_000121" "g.89685307T>C" "" "PMID: 20926450, 25669429, 19457929, 9600246, 9467011, 25722288, 10866302, 20926450, 19457929, 19457929, 26246517, 24778394, 21956414" "" "LRG_311t1:c.202T>G" "ACMG: PS3, PS4, PM5, PM2_SUP, PP3" "Germline" "?" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000804602" "0" "30" "10" "89623693" "89623695" "dup" "0" "02369" "KLLN_000034" "g.89623693_89623695dup" "" "" "" "PTEN(NM_000314.4):c.-534_-532dupCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804603" "0" "30" "10" "89623716" "89623716" "subst" "0" "02369" "PTEN_000600" "g.89623716G>A" "" "" "" "PTEN(NM_000314.4):c.-510G>A, PTEN(NM_000314.8):c.-511G>A, PTEN(NM_001304717.5):c.10G>A (p.(Gly4Arg), p.G4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804604" "0" "30" "10" "89623739" "89623741" "dup" "0" "02369" "KLLN_000022" "g.89623739_89623741dup" "" "" "" "PTEN(NM_000314.4):c.-488_-486dup (p.(=)), PTEN(NM_000314.4):c.-488_-486dupCGG, PTEN(NM_000314.8):c.-489_-487dupCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804605" "0" "10" "10" "89623861" "89623861" "del" "0" "02369" "PTEN_000311" "g.89623861del" "" "" "" "PTEN(NM_000314.4):c.-366delT, PTEN(NM_000314.8):c.-366delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804606" "0" "10" "10" "89623901" "89623901" "subst" "0" "02369" "PTEN_000312" "g.89623901G>C" "" "" "" "PTEN(NM_000314.4):c.-326G>C, PTEN(NM_000314.8):c.-326G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804607" "0" "70" "10" "89692818" "89692818" "subst" "0" "02325" "PTEN_000823" "g.89692818T>A" "" "" "" "PTEN(NM_000314.8):c.302T>A (p.I101N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804608" "0" "70" "10" "89692900" "89692900" "subst" "0" "02327" "PTEN_000513" "g.89692900G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804609" "0" "50" "10" "89692913" "89692913" "subst" "0" "02327" "PTEN_000169" "g.89692913G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804610" "0" "70" "10" "89692971" "89692971" "subst" "0" "02329" "PTEN_000824" "g.89692971T>C" "" "" "" "PTEN(NM_000314.8):c.455T>C (p.L152P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804611" "0" "90" "10" "89692980" "89692980" "subst" "0" "02327" "PTEN_000094" "g.89692980A>G" "" "" "" "PTEN(NM_000314.8):c.464A>G (p.Y155C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804612" "0" "90" "10" "89712021" "89712021" "subst" "4.10867E-6" "02327" "PTEN_000147" "g.89712021G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804613" "0" "30" "10" "89717695" "89717695" "subst" "6.09206E-5" "02329" "PTEN_000825" "g.89717695C>T" "" "" "" "PTEN(NM_000314.8):c.720C>T (p.Y240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804614" "0" "90" "10" "89717756" "89717756" "subst" "0" "02369" "PTEN_000719" "g.89717756C>T" "" "" "" "PTEN(NM_000314.4):c.781C>T (p.Gln261*), PTEN(NM_000314.8):c.781C>T (p.Q261*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804615" "0" "10" "10" "89720648" "89720648" "del" "0" "02369" "PTEN_000620" "g.89720648del" "" "" "" "PTEN(NM_000314.4):c.802-15del (p.(=)), PTEN(NM_000314.4):c.802-17delT, PTEN(NM_000314.8):c.802-3delT, PTEN(NM_001304718.2):c.211-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804616" "0" "10" "10" "89720648" "89720648" "dup" "0" "02369" "PTEN_000214" "g.89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-15_802-14insT (p.(=)), PTEN(NM_000314.4):c.802-18_802-17insT, PTEN(NM_000314.4):c.802-2dupT, PTEN(NM_000314.8):c.802-3dupT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804617" "0" "90" "10" "89720805" "89720808" "del" "0" "02326" "PTEN_000301" "g.89720805_89720808del" "" "" "" "PTEN(NM_001304717.5):c.1476_1479delCTTT (p.L493Qfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804618" "0" "90" "10" "89720852" "89720852" "subst" "0" "02329" "PTEN_000018" "g.89720852C>T" "" "" "" "PTEN(NM_000314.4):c.1003C>T (p.R335*, p.(Arg335*)), PTEN(NM_000314.8):c.1003C>T (p.R335*), PTEN(NM_001304718.2):c.412C>T (p.H138Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804619" "0" "10" "10" "89720907" "89720907" "subst" "0.37258" "02369" "PTEN_000246" "g.89720907T>G" "" "" "" "PTEN(NM_000314.4):c.1026+32T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000833970" "1" "90" "10" "89690847" "89690847" "subst" "0" "00006" "PTEN_000346" "g.89690847G>A" "" "{PMID:Evans 2022:33758026}" "" "" "" "Germline" "" "" "0" "" "" "g.87931090G>A" "" "pathogenic (dominant)" "ACMG" "0000845110" "0" "50" "10" "89711909" "89711909" "subst" "1.62604E-5" "00006" "PTEN_000826" "g.89711909A>G" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87952152A>G" "" "VUS" "" "0000852615" "0" "10" "10" "89623084" "89623084" "subst" "0" "02330" "KLLN_000035" "g.89623084C>T" "" "" "" "KLLN(NM_001126049.2):c.-840G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852616" "0" "10" "10" "89623167" "89623167" "subst" "0" "02330" "KLLN_000036" "g.89623167C>G" "" "" "" "KLLN(NM_001126049.2):c.-923G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852617" "0" "30" "10" "89623752" "89623752" "subst" "0" "01943" "KLLN_000037" "g.89623752G>A" "" "" "" "PTEN(NM_001304717.5):c.46G>A (p.A16T, p.(Ala16Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852618" "0" "50" "10" "89624267" "89624267" "subst" "0" "02329" "KLLN_000027" "g.89624267G>A" "" "" "" "PTEN(NM_000314.8):c.41G>A (p.R14K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852619" "0" "30" "10" "89685257" "89685260" "del" "0" "02369" "PTEN_000827" "g.89685257_89685260del" "" "" "" "PTEN(NM_000314.4):c.165-24_165-21delTTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852620" "0" "90" "10" "89685308" "89685308" "subst" "0" "02327" "PTEN_000044" "g.89685308A>G" "" "" "" "PTEN(NM_000314.8):c.203A>G (p.Tyr68Cys)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852621" "0" "30" "10" "89690794" "89690794" "subst" "7.7674E-5" "02327" "PTEN_000209" "g.89690794T>C" "" "" "" "PTEN(NM_000314.4):c.210-9T>C (p.(=)), PTEN(NM_000314.8):c.210-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852622" "0" "50" "10" "89717660" "89717660" "subst" "0" "01943" "PTEN_000830" "g.89717660T>A" "" "" "" "PTEN(NM_000314.4):c.685T>A (p.S229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852623" "0" "10" "10" "89720600" "89720637" "del" "0" "02326" "PTEN_000383" "g.89720600_89720637del" "" "" "" "PTEN(NM_000314.4):c.802-51_802-14del (p.(=)), PTEN(NM_000314.8):c.802-51_802-14del, PTEN(NM_000314.8):c.802-51_802-14del (None), PTEN(NM_001304718...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862065" "0" "30" "10" "89653834" "89653834" "subst" "0.00150501" "01804" "PTEN_000334" "g.89653834C>T" "" "" "" "PTEN(NM_000314.4):c.132C>T (p.G44=, p.(Gly44=)), PTEN(NM_000314.8):c.132C>T (p.G44=), PTEN(NM_001304717.5):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862066" "0" "10" "10" "89653834" "89653834" "subst" "0.00150501" "02329" "PTEN_000334" "g.89653834C>T" "" "" "" "PTEN(NM_000314.4):c.132C>T (p.G44=, p.(Gly44=)), PTEN(NM_000314.8):c.132C>T (p.G44=), PTEN(NM_001304717.5):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862067" "0" "50" "10" "89685305" "89685305" "subst" "0" "02327" "PTEN_000828" "g.89685305T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862068" "0" "30" "10" "89690827" "89690827" "subst" "9.79288E-5" "01804" "PTEN_000494" "g.89690827C>T" "" "" "" "PTEN(NM_000314.4):c.234C>T (p.(Thr78=)), PTEN(NM_000314.8):c.234C>T (p.T78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862069" "0" "30" "10" "89690828" "89690828" "subst" "0.000106134" "02329" "PTEN_000248" "g.89690828G>A" "" "" "" "PTEN(NM_000314.4):c.235G>A (p.(Ala79Thr)), PTEN(NM_000314.8):c.235G>A (p.A79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862070" "0" "90" "10" "89693009" "89693009" "subst" "0" "02327" "PTEN_000829" "g.89693009G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862071" "0" "10" "10" "89720647" "89720648" "dup" "0" "01804" "PTEN_000623" "g.89720647_89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-17_802-16insTT (p.(=)), PTEN(NM_000314.4):c.802-4_802-3dupTT, PTEN(NM_000314.8):c.802-4_802-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000868446" "0" "70" "10" "89624284" "89624284" "subst" "0" "04313" "PTEN_000831" "g.89624284G>T" "" "" "" "" "variant detected in vascular tissue" "Somatic" "" "" "0" "" "" "g.87864527G>T" "" "VUS" "" "0000868447" "0" "70" "10" "89692800" "89692800" "subst" "0" "04313" "PTEN_000348" "g.89692800C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933043C>T" "" "likely pathogenic" "" "0000877215" "0" "90" "10" "89712020" "89712020" "subst" "0" "03779" "PTEN_000375" "g.89712020A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000877658" "0" "70" "10" "89623142" "89623142" "subst" "0" "04313" "KLLN_000012" "g.89623142C>T" "" "" "" "c.-1085C>T" "" "Germline" "" "" "0" "" "" "g.87863385C>T" "" "VUS" "" "0000877659" "0" "70" "10" "89623275" "89623275" "subst" "0" "04313" "PTEN_000833" "g.89623275C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87863518C>T" "" "VUS" "" "0000877660" "0" "70" "10" "89623761" "89623761" "subst" "0" "04313" "PTEN_000832" "g.89623761G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864004G>C" "" "VUS" "" "0000877661" "0" "70" "10" "89624228" "89624228" "subst" "0" "04313" "PTEN_000834" "g.89624228T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864471T>C" "" "likely pathogenic" "" "0000877662" "0" "70" "10" "89624243" "89624244" "del" "0" "04313" "PTEN_000123" "g.89624243_89624244del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864486_87864487del" "" "pathogenic" "" "0000877663" "0" "70" "10" "89624256" "89624256" "dup" "0" "04313" "PTEN_000835" "g.89624256dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864499dup" "" "pathogenic" "" "0000877664" "0" "70" "10" "89624265" "89624266" "del" "0" "04313" "PTEN_000836" "g.89624265_89624266del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864508_87864509del" "" "likely pathogenic" "" "0000877665" "0" "70" "10" "89624272" "89624272" "subst" "0" "04313" "PTEN_000837" "g.89624272T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864515T>G" "" "pathogenic" "" "0000877666" "0" "70" "10" "89624273" "89624274" "del" "0" "04313" "PTEN_000328" "g.89624273_89624274del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864516_87864517del" "" "pathogenic" "" "0000877667" "0" "70" "10" "89624285" "89624285" "subst" "0" "04313" "PTEN_000838" "g.89624285G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864528G>C" "" "VUS" "" "0000877668" "0" "70" "10" "89624296" "89624296" "subst" "0" "04313" "PTEN_000083" "g.89624296G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864539G>C" "" "likely pathogenic" "" "0000877669" "0" "70" "10" "89624297" "89624297" "subst" "0" "04313" "PTEN_000175" "g.89624297A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864540A>G" "" "pathogenic" "" "0000877670" "0" "70" "10" "89624297" "89624297" "subst" "0" "04313" "PTEN_000596" "g.89624297A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864540A>T" "" "pathogenic" "" "0000877671" "0" "70" "10" "89624299" "89624300" "del" "0" "04313" "PTEN_000839" "g.89624299_89624300del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864542_87864543del" "" "pathogenic" "" "0000877672" "0" "70" "10" "89624301" "89624301" "subst" "0" "04313" "PTEN_000138" "g.89624301G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864544G>T" "" "likely pathogenic" "" "0000877673" "0" "70" "10" "89624303" "89624303" "subst" "0" "04313" "PTEN_000840" "g.89624303C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87864546C>A" "" "likely pathogenic" "" "0000877674" "0" "70" "10" "89653781" "89653782" "del" "0" "04313" "PTEN_000331" "g.89653781_89653782del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894024_87894025del" "" "pathogenic" "" "0000877675" "0" "70" "10" "89653781" "89653781" "subst" "0" "04313" "PTEN_000841" "g.89653781G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894024G>C" "" "VUS" "" "0000877676" "0" "70" "10" "89653785" "89653785" "subst" "4.07209E-6" "04313" "PTEN_000842" "g.89653785T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894028T>C" "" "likely pathogenic" "" "0000877677" "0" "70" "10" "89653791" "89653791" "subst" "0" "04313" "PTEN_000843" "g.89653791C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894034C>A" "" "likely pathogenic" "" "0000877678" "0" "70" "10" "89653796" "89653796" "subst" "0" "04313" "PTEN_000844" "g.89653796A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894039A>T" "" "likely pathogenic" "" "0000877679" "0" "70" "10" "89653803" "89653803" "subst" "0" "04313" "PTEN_000068" "g.89653803C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894046C>A" "" "likely pathogenic" "" "0000877680" "0" "70" "10" "89653808" "89653808" "subst" "0" "04313" "PTEN_000845" "g.89653808G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894051G>T" "" "pathogenic" "" "0000877681" "0" "70" "10" "89653829" "89653829" "dup" "0" "04313" "PTEN_000846" "g.89653829dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894072dup" "" "pathogenic" "" "0000877682" "0" "70" "10" "89653833" "89653833" "subst" "0" "04313" "PTEN_000847" "g.89653833G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894076G>A" "" "VUS" "" "0000877683" "0" "70" "10" "89653840" "89653840" "subst" "0" "04313" "PTEN_000848" "g.89653840C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894083C>A" "" "pathogenic" "" "0000877684" "0" "70" "10" "89653841" "89653841" "subst" "0" "04313" "PTEN_000680" "g.89653841A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894084A>G" "" "likely pathogenic" "" "0000877685" "0" "70" "10" "89653846" "89653848" "dup" "0" "04313" "PTEN_000849" "g.89653846_89653848dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894089_87894091dup" "" "VUS" "" "0000877686" "0" "70" "10" "89653851" "89653851" "subst" "0" "04313" "PTEN_000714" "g.89653851T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894094T>C" "" "pathogenic" "" "0000877687" "0" "70" "10" "89653857" "89653859" "del" "0" "04313" "PTEN_000210" "g.89653857_89653859del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894100_87894102del" "" "pathogenic" "" "0000877688" "0" "70" "10" "89653867" "89653867" "subst" "0" "04313" "PTEN_000749" "g.89653867G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894110G>C" "" "pathogenic" "" "0000877689" "0" "70" "10" "89653867" "89653867" "subst" "0" "04313" "PTEN_000476" "g.89653867G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87894110G>T" "" "pathogenic" "" "0000877690" "0" "70" "10" "89685239" "89685239" "subst" "0" "04313" "PTEN_000850" "g.89685239G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925482G>T" "" "VUS" "" "0000877691" "0" "70" "10" "89685252" "89685252" "subst" "0" "04313" "PTEN_000851" "g.89685252T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925495T>A" "" "likely pathogenic" "" "0000877692" "0" "70" "10" "89685269" "89685269" "delins" "0" "04313" "PTEN_000852" "g.89685269delinsTAAA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925512delinsTAAA" "" "likely pathogenic" "" "0000877693" "0" "70" "10" "89685275" "89685275" "subst" "0" "04313" "PTEN_000853" "g.89685275T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925518T>G" "" "pathogenic" "" "0000877694" "0" "70" "10" "89685277" "89685277" "del" "0" "04313" "PTEN_000854" "g.89685277del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925520del" "" "likely pathogenic" "" "0000877695" "0" "70" "10" "89685281" "89685281" "subst" "0" "04313" "PTEN_000098" "g.89685281C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925524C>A" "" "pathogenic" "" "0000877696" "0" "70" "10" "89685281" "89685281" "subst" "0" "04313" "PTEN_000682" "g.89685281C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925524C>G" "" "pathogenic" "" "0000877697" "0" "70" "10" "89685287" "89685287" "subst" "0" "04313" "PTEN_000481" "g.89685287A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925530A>G" "" "likely pathogenic" "" "0000877698" "0" "70" "10" "89685300" "89685300" "subst" "0" "04313" "PTEN_000855" "g.89685300C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925543C>A" "" "pathogenic" "" "0000877699" "0" "70" "10" "89685302" "89685306" "dup" "0" "04313" "PTEN_000856" "g.89685302_89685306dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925545_87925549dup" "" "pathogenic" "" "0000877700" "0" "70" "10" "89685307" "89685307" "subst" "0" "04313" "PTEN_000120" "g.89685307T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925550T>G" "" "likely pathogenic" "" "0000877701" "0" "70" "10" "89685308" "89685309" "delins" "0" "04313" "PTEN_000857" "g.89685308_89685309delinsT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925551_87925552delinsT" "" "pathogenic" "" "0000877702" "0" "70" "10" "89685311" "89685311" "del" "0" "04313" "PTEN_000858" "g.89685311del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925554del" "" "pathogenic" "" "0000877703" "0" "70" "10" "89685314" "89685314" "subst" "0" "04313" "PTEN_000005" "g.89685314T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925557T>C" "" "pathogenic" "" "0000877704" "0" "70" "10" "89685325" "89685325" "subst" "0" "04313" "PTEN_000859" "g.89685325T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87925568T>G" "" "VUS" "" "0000877705" "0" "70" "10" "89690796" "89690800" "del" "0" "04313" "PTEN_000140" "g.89690796_89690800del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931039_87931043del" "" "pathogenic" "" "0000877706" "0" "70" "10" "89690801" "89690801" "subst" "0" "04313" "PTEN_000860" "g.89690801A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931044A>G" "" "pathogenic" "" "0000877707" "0" "70" "10" "89690812" "89690815" "dup" "0" "04313" "PTEN_000344" "g.89690812_89690815dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931055_87931058dup" "" "pathogenic" "" "0000877708" "0" "70" "10" "89690820" "89690821" "del" "0" "04313" "PTEN_000862" "g.89690820_89690821del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931063_87931064del" "" "pathogenic" "" "0000877709" "0" "70" "10" "89690820" "89690820" "subst" "0" "04313" "PTEN_000861" "g.89690820A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931063A>T" "" "pathogenic" "" "0000877710" "0" "70" "10" "89690827" "89690827" "del" "0" "04313" "PTEN_000863" "g.89690827del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931070del" "" "pathogenic" "" "0000877711" "0" "70" "10" "89690828" "89690828" "subst" "0" "04313" "PTEN_000611" "g.89690828G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931071G>T" "" "VUS" "" "0000877712" "0" "70" "10" "89690842" "89690842" "subst" "0" "04313" "PTEN_000864" "g.89690842C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931085C>A" "" "pathogenic" "" "0000877713" "0" "70" "10" "89690851" "89690851" "subst" "0" "04313" "PTEN_000865" "g.89690851G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931094G>C" "" "likely pathogenic" "" "0000877714" "0" "70" "10" "89690851" "89690851" "subst" "0" "04313" "PTEN_000866" "g.89690851G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931094G>T" "" "pathogenic" "" "0000877715" "0" "70" "10" "89690954" "89690955" "ins" "0" "04313" "PTEN_000241" "g.89690954_89690955insTCTTA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87931197_87931198insTCTTA" "" "VUS" "" "0000877716" "0" "70" "10" "89692740" "89692740" "dup" "0" "04313" "PTEN_000347" "g.89692740dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87932983dup" "" "VUS" "" "0000877717" "0" "70" "10" "89692780" "89692780" "subst" "0" "04313" "PTEN_000498" "g.89692780T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933023T>A" "" "pathogenic" "" "0000877718" "0" "70" "10" "89692780" "89692780" "subst" "0" "04313" "PTEN_000867" "g.89692780T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933023T>G" "" "pathogenic" "" "0000877719" "0" "70" "10" "89692803" "89692803" "subst" "0" "04313" "PTEN_000868" "g.89692803C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933046C>T" "" "VUS" "" "0000877720" "0" "70" "10" "89692811" "89692811" "subst" "0" "04313" "PTEN_000869" "g.89692811G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933054G>T" "" "pathogenic" "" "0000877721" "0" "70" "10" "89692818" "89692818" "subst" "0" "04313" "PTEN_000502" "g.89692818T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933061T>C" "" "pathogenic" "" "0000877722" "0" "70" "10" "89692822" "89692822" "del" "0" "04313" "PTEN_000870" "g.89692822del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933065del" "" "pathogenic" "" "0000877723" "0" "70" "10" "89692825" "89692825" "del" "0" "04313" "PTEN_000871" "g.89692825del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933068del" "" "pathogenic" "" "0000877724" "0" "70" "10" "89692829" "89692829" "subst" "0" "04313" "PTEN_000872" "g.89692829T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933072T>C" "" "likely pathogenic" "" "0000877725" "0" "70" "10" "89692846" "89692846" "dup" "0" "04313" "PTEN_000873" "g.89692846dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933089dup" "" "pathogenic" "" "0000877726" "0" "70" "10" "89692847" "89692848" "delins" "0" "04313" "PTEN_000875" "g.89692847_89692848delinsAT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933090_87933091delinsAT" "" "likely pathogenic" "" "0000877727" "0" "70" "10" "89692847" "89692847" "dup" "0" "04313" "PTEN_000874" "g.89692847dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933090dup" "" "pathogenic" "" "0000877728" "0" "70" "10" "89692847" "89692847" "subst" "0" "04313" "PTEN_000686" "g.89692847T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933090T>C" "" "pathogenic" "" "0000877729" "0" "70" "10" "89692850" "89692850" "subst" "0" "04313" "PTEN_000001" "g.89692850C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933093C>G" "" "likely pathogenic" "" "0000877730" "0" "70" "10" "89692851" "89692851" "subst" "0" "04313" "PTEN_000876" "g.89692851T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933094T>C" "" "pathogenic" "" "0000877731" "0" "70" "10" "89692851" "89692851" "subst" "0" "04313" "PTEN_000877" "g.89692851T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933094T>G" "" "likely pathogenic" "" "0000877732" "0" "70" "10" "89692871" "89692871" "subst" "0" "04313" "PTEN_000613" "g.89692871G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933114G>T" "" "likely pathogenic" "" "0000877733" "0" "70" "10" "89692878" "89692878" "subst" "0" "04313" "PTEN_000878" "g.89692878C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933121C>A" "" "VUS" "" "0000877734" "0" "70" "10" "89692883" "89692883" "subst" "0" "04313" "PTEN_000010" "g.89692883C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933126C>G" "" "likely pathogenic" "" "0000877735" "0" "70" "10" "89692884" "89692884" "subst" "0" "04313" "PTEN_000032" "g.89692884A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933127A>G" "" "pathogenic" "" "0000877736" "0" "70" "10" "89692886" "89692886" "subst" "0" "04313" "PTEN_000168" "g.89692886T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933129T>A" "" "likely pathogenic" "" "0000877737" "0" "70" "10" "89692886" "89692886" "subst" "0" "04313" "PTEN_000033" "g.89692886T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933129T>C" "" "likely pathogenic" "" "0000877738" "0" "70" "10" "89692887" "89692889" "delins" "0" "04313" "PTEN_000879" "g.89692887_89692889delinsT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933130_87933132delinsT" "" "pathogenic" "" "0000877739" "0" "70" "10" "89692887" "89692887" "subst" "0" "04313" "PTEN_000643" "g.89692887G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933130G>C" "" "likely pathogenic" "" "0000877740" "0" "70" "10" "89692891" "89692891" "subst" "0" "04313" "PTEN_000880" "g.89692891A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933134A>T" "" "pathogenic" "" "0000877741" "0" "70" "10" "89692892" "89692892" "subst" "0" "04313" "PTEN_000512" "g.89692892G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933135G>C" "" "likely pathogenic" "" "0000877742" "0" "70" "10" "89692893" "89692893" "subst" "0" "04313" "PTEN_000881" "g.89692893C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933136C>T" "" "likely pathogenic" "" "0000877743" "0" "70" "10" "89692896" "89692896" "subst" "0" "04313" "PTEN_000882" "g.89692896G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933139G>A" "" "likely pathogenic" "" "0000877744" "0" "70" "10" "89692896" "89692896" "subst" "0" "04313" "PTEN_000883" "g.89692896G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933139G>T" "" "likely pathogenic" "" "0000877745" "0" "70" "10" "89692905" "89692905" "del" "0" "04313" "PTEN_000884" "g.89692905del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933148del" "" "pathogenic" "" "0000877746" "0" "70" "10" "89692905" "89692905" "subst" "0" "04313" "PTEN_000885" "g.89692905G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933148G>C" "" "pathogenic" "" "0000877747" "0" "70" "10" "89692905" "89692905" "subst" "0" "04313" "PTEN_000055" "g.89692905G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933148G>T" "" "pathogenic" "" "0000877748" "0" "70" "10" "89692921" "89692921" "dup" "0" "04313" "PTEN_000886" "g.89692921dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933164dup" "" "pathogenic" "" "0000877749" "0" "70" "10" "89692930" "89692932" "del" "0" "04313" "PTEN_000888" "g.89692930_89692932del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933173_87933175del" "" "likely pathogenic" "" "0000877750" "0" "70" "10" "89692930" "89692930" "subst" "0" "04313" "PTEN_000887" "g.89692930T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933173T>G" "" "pathogenic" "" "0000877751" "0" "70" "10" "89692932" "89692935" "del" "0" "04313" "PTEN_000889" "g.89692932_89692935del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933175_87933178del" "" "pathogenic" "" "0000877752" "0" "70" "10" "89692940" "89692940" "subst" "4.0624E-6" "04313" "PTEN_000523" "g.89692940C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933183C>T" "" "VUS" "" "0000877753" "0" "70" "10" "89692944" "89692944" "subst" "0" "04313" "PTEN_000890" "g.89692944G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933187G>A" "" "likely pathogenic" "" "0000877754" "0" "70" "10" "89692949" "89692949" "subst" "0" "04313" "PTEN_000891" "g.89692949T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933192T>A" "" "likely pathogenic" "" "0000877755" "0" "70" "10" "89692961" "89692961" "subst" "0" "04313" "PTEN_000764" "g.89692961C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933204C>T" "" "pathogenic" "" "0000877756" "0" "70" "10" "89692971" "89692971" "subst" "0" "04313" "PTEN_000892" "g.89692971T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933214T>A" "" "likely pathogenic" "" "0000877757" "0" "70" "10" "89692977" "89692977" "subst" "0" "04313" "PTEN_000359" "g.89692977T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933220T>G" "" "VUS" "" "0000877758" "0" "70" "10" "89692982" "89692982" "subst" "0" "04313" "PTEN_000893" "g.89692982G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933225G>A" "" "pathogenic" "" "0000877759" "0" "70" "10" "89692982" "89692982" "subst" "0" "04313" "PTEN_000894" "g.89692982G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933225G>T" "" "likely pathogenic" "" "0000877760" "0" "70" "10" "89692985" "89692985" "dup" "0" "04313" "PTEN_000895" "g.89692985dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933228dup" "" "pathogenic" "" "0000877761" "0" "70" "10" "89692991" "89692991" "subst" "0" "04313" "PTEN_000896" "g.89692991A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933234A>G" "" "likely pathogenic" "" "0000877762" "0" "70" "10" "89693001" "89693001" "subst" "0" "04313" "PTEN_000897" "g.89693001A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933244A>G" "" "likely pathogenic" "" "0000877763" "0" "70" "10" "89693002" "89693003" "del" "0" "04313" "PTEN_000531" "g.89693002_89693003del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933245_87933246del" "" "pathogenic" "" "0000877764" "0" "70" "10" "89693007" "89693007" "del" "0" "04313" "PTEN_000014" "g.89693007del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933250del" "" "pathogenic" "" "0000877765" "0" "70" "10" "89693009" "89693009" "del" "0" "04313" "PTEN_000011" "g.89693009del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933252del" "" "pathogenic" "" "0000877766" "0" "70" "10" "89693009" "89693009" "subst" "0" "04313" "PTEN_000898" "g.89693009G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933252G>A" "" "likely pathogenic" "" "0000877767" "0" "70" "10" "89693010" "89693010" "subst" "0" "04313" "PTEN_000899" "g.89693010T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87933253T>G" "" "pathogenic" "" "0000877768" "0" "70" "10" "89711875" "89711878" "dup" "0" "04313" "PTEN_000900" "g.89711875_89711878dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952118_87952121dup" "" "pathogenic" "" "0000877769" "0" "70" "10" "89711875" "89711891" "del" "0" "04313" "PTEN_000901" "g.89711875_89711891del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952118_87952134del" "" "likely pathogenic" "" "0000877770" "0" "70" "10" "89711875" "89711875" "subst" "0" "04313" "PTEN_000535" "g.89711875G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952118G>C" "" "likely pathogenic" "" "0000877771" "0" "70" "10" "89711889" "89711889" "del" "0" "04313" "PTEN_000087" "g.89711889del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952132del" "" "likely pathogenic" "" "0000877772" "0" "70" "10" "89711891" "89711891" "subst" "0" "04313" "PTEN_000170" "g.89711891G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952134G>A" "" "likely pathogenic" "" "0000877773" "0" "70" "10" "89711892" "89711892" "subst" "0" "04313" "PTEN_000027" "g.89711892T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952135T>A" "" "likely pathogenic" "" "0000877774" "0" "70" "10" "89711893" "89711893" "subst" "0" "04313" "PTEN_000259" "g.89711893C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952136C>T" "" "pathogenic" "" "0000877775" "0" "70" "10" "89711894" "89711894" "del" "0" "04313" "PTEN_000902" "g.89711894del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952137del" "" "likely pathogenic" "" "0000877776" "0" "70" "10" "89711896" "89711896" "subst" "0" "04313" "PTEN_000903" "g.89711896A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952139A>G" "" "VUS" "" "0000877777" "0" "70" "10" "89711899" "89711899" "subst" "0" "04313" "PTEN_000904" "g.89711899C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952142C>G" "" "likely pathogenic" "" "0000877778" "0" "70" "10" "89711902" "89711902" "subst" "0" "04313" "PTEN_000905" "g.89711902T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952145T>C" "" "VUS" "" "0000877779" "0" "70" "10" "89711903" "89711903" "subst" "0" "04313" "PTEN_000906" "g.89711903A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952146A>G" "" "pathogenic" "" "0000877780" "0" "70" "10" "89711910" "89711910" "subst" "0" "04313" "PTEN_000015" "g.89711910T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952153T>G" "" "pathogenic" "" "0000877781" "0" "70" "10" "89711911" "89711911" "subst" "0" "04313" "PTEN_000907" "g.89711911T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952154T>G" "" "VUS" "" "0000877782" "0" "70" "10" "89711915" "89711915" "subst" "0" "04313" "PTEN_000908" "g.89711915A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952158A>G" "" "VUS" "" "0000877783" "0" "70" "10" "89711915" "89711915" "dup" "0" "04313" "PTEN_000369" "g.89711915dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952158dup" "" "pathogenic" "" "0000877784" "0" "70" "10" "89711916" "89711916" "subst" "0" "04313" "PTEN_000909" "g.89711916T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952159T>A" "" "pathogenic" "" "0000877785" "0" "70" "10" "89711916" "89711916" "subst" "0" "04313" "PTEN_000910" "g.89711916T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952159T>G" "" "pathogenic" "" "0000877786" "0" "70" "10" "89711930" "89711930" "dup" "0" "04313" "PTEN_000231" "g.89711930dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952173dup" "" "pathogenic" "" "0000877787" "0" "70" "10" "89711945" "89711945" "subst" "0" "04313" "PTEN_000705" "g.89711945A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952188A>G" "" "pathogenic" "" "0000877788" "0" "70" "10" "89711963" "89711963" "subst" "0" "04313" "PTEN_000911" "g.89711963T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952206T>A" "" "likely pathogenic" "" "0000877789" "0" "70" "10" "89711975" "89711975" "subst" "0" "04313" "PTEN_000912" "g.89711975T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952218T>C" "" "likely pathogenic" "" "0000877790" "0" "70" "10" "89712005" "89712005" "del" "0" "04313" "PTEN_000913" "g.89712005del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952248del" "" "pathogenic" "" "0000877791" "0" "70" "10" "89712013" "89712013" "dup" "0" "04313" "PTEN_000777" "g.89712013dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952256dup" "" "pathogenic" "" "0000877792" "0" "70" "10" "89712014" "89712015" "delins" "0" "04313" "PTEN_000914" "g.89712014_89712015delinsAG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952257_87952258delinsAG" "" "pathogenic" "" "0000877793" "0" "70" "10" "89712014" "89712014" "dup" "0" "04313" "PTEN_000142" "g.89712014dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952257dup" "" "pathogenic" "" "0000877794" "0" "70" "10" "89712015" "89712015" "subst" "0" "04313" "PTEN_000915" "g.89712015C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952258C>G" "" "VUS" "" "0000877795" "0" "70" "10" "89712016" "89712016" "dup" "0" "04313" "PTEN_000916" "g.89712016dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952259dup" "" "pathogenic" "" "0000877796" "0" "70" "10" "89712017" "89712017" "subst" "0" "04313" "PTEN_000917" "g.89712017G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952260G>T" "" "pathogenic" "" "0000877797" "0" "70" "10" "89712018" "89712018" "subst" "0" "04313" "PTEN_000918" "g.89712018T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952261T>G" "" "pathogenic" "" "0000877798" "0" "70" "10" "89712019" "89712019" "subst" "0" "04313" "PTEN_000160" "g.89712019A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952262A>C" "" "VUS" "" "0000877799" "0" "70" "10" "89712021" "89712021" "subst" "0" "04313" "PTEN_000919" "g.89712021G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87952264G>C" "" "pathogenic" "" "0000877800" "0" "70" "10" "89717608" "89717633" "dup" "0" "04313" "PTEN_000920" "g.89717608_89717633dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957851_87957876dup" "" "likely pathogenic" "" "0000877801" "0" "70" "10" "89717609" "89717609" "subst" "0" "04313" "PTEN_000153" "g.89717609G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957852G>C" "" "pathogenic" "" "0000877802" "0" "70" "10" "89717609" "89717609" "subst" "0" "04313" "PTEN_000921" "g.89717609G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957852G>T" "" "pathogenic" "" "0000877803" "0" "70" "10" "89717613" "89717613" "subst" "0" "04313" "PTEN_000922" "g.89717613C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957856C>G" "" "VUS" "" "0000877804" "0" "70" "10" "89717625" "89717625" "subst" "0" "04313" "PTEN_000923" "g.89717625T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957868T>G" "" "VUS" "" "0000877805" "0" "70" "10" "89717643" "89717643" "del" "0" "04313" "PTEN_000924" "g.89717643del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957886del" "" "likely pathogenic" "" "0000877806" "0" "70" "10" "89717646" "89717646" "dup" "0" "04313" "PTEN_000925" "g.89717646dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957889dup" "" "pathogenic" "" "0000877807" "0" "70" "10" "89717650" "89717650" "subst" "0" "04313" "PTEN_000926" "g.89717650T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957893T>G" "" "likely pathogenic" "" "0000877808" "0" "70" "10" "89717668" "89717668" "del" "0" "04313" "PTEN_000927" "g.89717668del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957911del" "" "pathogenic" "" "0000877809" "0" "70" "10" "89717678" "89717678" "subst" "0" "04313" "PTEN_000928" "g.89717678G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957921G>T" "" "pathogenic" "" "0000877810" "0" "70" "10" "89717688" "89717688" "dup" "0" "04313" "PTEN_000378" "g.89717688dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957931dup" "" "pathogenic" "" "0000877811" "0" "70" "10" "89717689" "89717690" "del" "0" "04313" "PTEN_000929" "g.89717689_89717690del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957932_87957933del" "" "pathogenic" "" "0000877812" "0" "70" "10" "89717698" "89717699" "del" "0" "04313" "PTEN_000931" "g.89717698_89717699del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957941_87957942del" "" "pathogenic" "" "0000877813" "0" "70" "10" "89717698" "89717698" "dup" "0" "04313" "PTEN_000930" "g.89717698dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957941dup" "" "pathogenic" "" "0000877814" "0" "70" "10" "89717712" "89717712" "subst" "0" "04313" "PTEN_000130" "g.89717712C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957955C>T" "" "pathogenic" "" "0000877815" "0" "70" "10" "89717717" "89717721" "dup" "0" "04313" "PTEN_000380" "g.89717717_89717721dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957960_87957964dup" "" "pathogenic" "" "0000877816" "0" "70" "10" "89717730" "89717730" "subst" "0" "04313" "PTEN_000565" "g.89717730A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957973A>T" "" "likely pathogenic" "" "0000877817" "0" "70" "10" "89717733" "89717733" "subst" "0" "04313" "PTEN_000932" "g.89717733T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957976T>G" "" "likely pathogenic" "" "0000877818" "0" "70" "10" "89717739" "89717740" "delins" "0" "04313" "PTEN_000381" "g.89717739_89717740delinsCTTT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957982_87957983delinsCTTT" "" "pathogenic" "" "0000877819" "0" "70" "10" "89717739" "89717740" "dup" "0" "04313" "PTEN_000933" "g.89717739_89717740dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957982_87957983dup" "" "pathogenic" "" "0000877820" "0" "70" "10" "89717740" "89717740" "dup" "0" "04313" "PTEN_000934" "g.89717740dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957983dup" "" "pathogenic" "" "0000877821" "0" "70" "10" "89717745" "89717745" "subst" "0" "04313" "PTEN_000935" "g.89717745T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87957988T>C" "" "likely pathogenic" "" "0000877822" "0" "70" "10" "89717763" "89717763" "del" "0" "04313" "PTEN_000382" "g.89717763del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87958006del" "" "pathogenic" "" "0000877823" "0" "70" "10" "89717770" "89717773" "delins" "0" "04313" "PTEN_000936" "g.89717770_89717773delinsTTT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87958013_87958016delinsTTT" "" "pathogenic" "" "0000877824" "0" "70" "10" "89717774" "89717775" "ins" "0" "04313" "PTEN_000937" "g.89717774_89717775insC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87958017_87958018insC" "" "pathogenic" "" "0000877825" "0" "70" "10" "89717776" "89717776" "subst" "0" "04313" "PTEN_000938" "g.89717776G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87958019G>T" "" "VUS" "" "0000877826" "0" "70" "10" "89720649" "89720649" "subst" "0" "04313" "PTEN_000939" "g.89720649A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960892A>G" "" "pathogenic" "" "0000877827" "0" "70" "10" "89720652" "89720672" "del" "0" "04313" "PTEN_000940" "g.89720652_89720672del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960895_87960915del" "" "VUS" "" "0000877828" "0" "70" "10" "89720657" "89720657" "subst" "0" "04313" "PTEN_000941" "g.89720657A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960900A>G" "" "VUS" "" "0000877829" "0" "70" "10" "89720661" "89720661" "subst" "0" "04313" "PTEN_000942" "g.89720661T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960904T>G" "" "likely pathogenic" "" "0000877830" "0" "70" "10" "89720670" "89720670" "subst" "0" "04313" "PTEN_000943" "g.89720670G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960913G>A" "" "pathogenic" "" "0000877831" "0" "70" "10" "89720671" "89720671" "subst" "0" "04313" "PTEN_000944" "g.89720671G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960914G>A" "" "pathogenic" "" "0000877832" "0" "70" "10" "89720676" "89720676" "del" "0" "04313" "PTEN_000945" "g.89720676del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960919del" "" "pathogenic" "" "0000877833" "0" "70" "10" "89720678" "89720685" "del" "0" "04313" "PTEN_000947" "g.89720678_89720685del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960921_87960928del" "" "pathogenic" "" "0000877834" "0" "70" "10" "89720678" "89720678" "subst" "0" "04313" "PTEN_000946" "g.89720678A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960921A>G" "" "pathogenic" "" "0000877835" "0" "70" "10" "89720693" "89720693" "subst" "0" "04313" "PTEN_000948" "g.89720693G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960936G>A" "" "likely pathogenic" "" "0000877836" "0" "70" "10" "89720698" "89720698" "del" "0" "04313" "PTEN_000388" "g.89720698del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960941del" "" "pathogenic" "" "0000877837" "0" "70" "10" "89720699" "89720699" "subst" "0" "04313" "PTEN_000949" "g.89720699G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960942G>T" "" "pathogenic" "" "0000877838" "0" "70" "10" "89720702" "89720702" "dup" "0" "04313" "PTEN_000950" "g.89720702dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960945dup" "" "pathogenic" "" "0000877839" "0" "70" "10" "89720710" "89720710" "del" "0" "04313" "PTEN_000389" "g.89720710del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960953del" "" "pathogenic" "" "0000877840" "0" "70" "10" "89720716" "89720716" "dup" "0" "04313" "PTEN_000951" "g.89720716dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960959dup" "" "pathogenic" "" "0000877841" "0" "70" "10" "89720723" "89720724" "del" "0" "04313" "PTEN_000392" "g.89720723_89720724del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960966_87960967del" "" "pathogenic" "" "0000877842" "0" "70" "10" "89720726" "89720726" "subst" "0" "04313" "PTEN_000799" "g.89720726G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960969G>T" "" "pathogenic" "" "0000877843" "0" "70" "10" "89720733" "89720733" "dup" "0" "04313" "PTEN_000574" "g.89720733dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960976dup" "" "pathogenic" "" "0000877844" "0" "70" "10" "89720734" "89720735" "del" "0" "04313" "PTEN_000952" "g.89720734_89720735del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960977_87960978del" "" "pathogenic" "" "0000877845" "0" "70" "10" "89720735" "89720742" "del" "0" "04313" "PTEN_000953" "g.89720735_89720742del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960978_87960985del" "" "pathogenic" "" "0000877846" "0" "70" "10" "89720741" "89720741" "subst" "0" "04313" "PTEN_000171" "g.89720741C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960984C>T" "" "pathogenic" "" "0000877847" "0" "70" "10" "89720747" "89720747" "del" "0" "04313" "PTEN_000393" "g.89720747del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87960990del" "" "pathogenic" "" "0000877848" "0" "70" "10" "89720765" "89720765" "dup" "0" "04313" "PTEN_000954" "g.89720765dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961008dup" "" "likely pathogenic" "" "0000877849" "0" "70" "10" "89720778" "89720778" "subst" "0" "04313" "PTEN_000808" "g.89720778A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961021A>G" "" "VUS" "" "0000877850" "0" "70" "10" "89720779" "89720780" "del" "0" "04313" "PTEN_000955" "g.89720779_89720780del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961022_87961023del" "" "pathogenic" "" "0000877851" "0" "70" "10" "89720782" "89720783" "ins" "0" "04313" "PTEN_000956" "g.89720782_89720783insC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961025_87961026insC" "" "pathogenic" "" "0000877852" "0" "70" "10" "89720789" "89720789" "del" "0" "04313" "PTEN_000957" "g.89720789del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961032del" "" "pathogenic" "" "0000877853" "0" "70" "10" "89720804" "89720807" "del" "0" "04313" "PTEN_000102" "g.89720804_89720807del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961047_87961050del" "" "pathogenic" "" "0000877854" "0" "70" "10" "89720804" "89720804" "dup" "0" "04313" "PTEN_000229" "g.89720804dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961047dup" "" "pathogenic" "" "0000877855" "0" "70" "10" "89720805" "89720808" "del" "0" "04313" "PTEN_000301" "g.89720805_89720808del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961048_87961051del" "" "pathogenic" "" "0000877856" "0" "70" "10" "89720808" "89720808" "subst" "0" "04313" "PTEN_000650" "g.89720808T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961051T>A" "" "likely pathogenic" "" "0000877857" "0" "70" "10" "89720808" "89720808" "subst" "0" "04313" "PTEN_000958" "g.89720808T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961051T>G" "" "pathogenic" "" "0000877858" "0" "70" "10" "89720819" "89720819" "dup" "0" "04313" "PTEN_000959" "g.89720819dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961062dup" "" "pathogenic" "" "0000877859" "0" "70" "10" "89720836" "89720839" "del" "0" "04313" "PTEN_000215" "g.89720836_89720839del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961079_87961082del" "" "pathogenic" "" "0000877860" "0" "70" "10" "89720836" "89720836" "dup" "0" "04313" "PTEN_000960" "g.89720836dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961079dup" "" "pathogenic" "" "0000877861" "0" "70" "10" "89720838" "89720839" "del" "0" "04313" "PTEN_000215" "g.89720838_89720839del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87961081_87961082del" "" "pathogenic" "" "0000877862" "0" "70" "10" "89725034" "89725045" "del" "0" "04313" "PTEN_000961" "g.89725034_89725045del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87965277_87965288del" "" "likely pathogenic" "" "0000877863" "0" "70" "10" "89725043" "89725043" "subst" "0" "04313" "PTEN_000962" "g.89725043G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87965286G>A" "" "pathogenic" "" "0000877864" "0" "70" "10" "89725043" "89725043" "subst" "0" "04313" "PTEN_000963" "g.89725043G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87965286G>C" "" "likely pathogenic" "" "0000877865" "0" "70" "10" "89725048" "89725048" "del" "0" "04313" "PTEN_000964" "g.89725048del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87965291del" "" "pathogenic" "" "0000877866" "0" "70" "10" "89725078" "89725078" "subst" "8.33792E-5" "04313" "PTEN_000584" "g.89725078C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87965321C>A" "" "VUS" "" "0000877867" "0" "70" "10" "89725133" "89725136" "del" "0" "04313" "PTEN_000965" "g.89725133_89725136del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87965376_87965379del" "" "likely pathogenic" "" "0000889293" "0" "50" "10" "89623392" "89623392" "subst" "0" "02325" "PTEN_000106" "g.89623392C>T" "" "" "" "PTEN(NM_000314.8):c.-835C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889294" "0" "30" "10" "89623714" "89623714" "subst" "0" "02330" "KLLN_000038" "g.89623714G>T" "" "" "" "PTEN(NM_000314.8):c.-513G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889295" "0" "70" "10" "89624240" "89624240" "subst" "0" "02327" "KLLN_000039" "g.89624240T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889296" "0" "90" "10" "89624302" "89624302" "del" "0" "02325" "KLLN_000040" "g.89624302del" "" "" "" "PTEN(NM_000314.8):c.76delA (p.T26Pfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889297" "0" "30" "10" "89624312" "89624312" "subst" "0" "02326" "PTEN_000330" "g.89624312A>T" "" "" "" "PTEN(NM_000314.4):c.79+7A>T (p.(=)), PTEN(NM_001304718.2):c.-627+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889298" "0" "30" "10" "89690794" "89690794" "subst" "7.7674E-5" "01804" "PTEN_000209" "g.89690794T>C" "" "" "" "PTEN(NM_000314.4):c.210-9T>C (p.(=)), PTEN(NM_000314.8):c.210-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889299" "0" "50" "10" "89692866" "89692866" "subst" "8.12949E-6" "01804" "PTEN_000710" "g.89692866A>G" "" "" "" "PTEN(NM_000314.4):c.350A>G (p.(Asn117Ser)), PTEN(NM_000314.8):c.350A>G (p.N117S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889300" "0" "70" "10" "89692890" "89692890" "subst" "0" "02325" "PTEN_000969" "g.89692890A>C" "" "" "" "PTEN(NM_000314.8):c.374A>C (p.K125T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889301" "0" "70" "10" "89692890" "89692890" "subst" "0" "02326" "PTEN_000970" "g.89692890A>G" "" "" "" "PTEN(NM_000314.4):c.374A>G (p.K125R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889302" "0" "90" "10" "89692922" "89692922" "subst" "0" "02329" "PTEN_000129" "g.89692922T>C" "" "" "" "PTEN(NM_000314.8):c.406T>C (p.C136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889303" "0" "90" "10" "89693009" "89693009" "subst" "0" "02326" "PTEN_000971" "g.89693009G>C" "" "" "" "PTEN(NM_001304718.2):c.-259+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889304" "0" "50" "10" "89717754" "89717754" "subst" "4.06171E-6" "02329" "PTEN_000691" "g.89717754A>G" "" "" "" "PTEN(NM_000314.4):c.779A>G (p.K260R), PTEN(NM_000314.8):c.779A>G (p.K260R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889305" "0" "70" "10" "89720871" "89720871" "subst" "0" "02325" "PTEN_000972" "g.89720871T>A" "" "" "" "PTEN(NM_000314.8):c.1022T>A (p.F341Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000909270" "0" "70" "10" "89653805" "89653805" "subst" "0" "00006" "PTEN_000080" "g.89653805A>G" "" "{PMID:Desjardins 2023:34937768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87894048A>G" "" "likely pathogenic" "ACMG" "0000909271" "0" "90" "10" "89692904" "89692904" "subst" "1.21875E-5" "00006" "PTEN_000013" "g.89692904C>T" "" "{PMID:Desjardins 2023:34937768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87933147C>T" "" "pathogenic" "ACMG" "0000909272" "0" "70" "10" "89692979" "89692979" "subst" "0" "00006" "PTEN_000974" "g.89692979T>A" "" "{PMID:Desjardins 2023:34937768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87933222T>A" "" "likely pathogenic" "ACMG" "0000909273" "0" "90" "10" "89717650" "89717650" "subst" "0" "00006" "PTEN_000977" "g.89717650T>A" "" "{PMID:Desjardins 2023:34937768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87957893T>A" "" "pathogenic" "ACMG" "0000909274" "0" "90" "10" "89692868" "89692868" "dup" "0" "00006" "PTEN_000973" "g.89692868dup" "" "{PMID:Desjardins 2023:34937768}" "" "352dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87933111_87933112insCC" "" "pathogenic" "ACMG" "0000909275" "0" "90" "10" "89717708" "89717708" "subst" "4.06151E-6" "00006" "PTEN_000060" "g.89717708C>T" "" "{PMID:Desjardins 2023:34937768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87957951C>T" "" "pathogenic" "ACMG" "0000909276" "0" "90" "10" "89717697" "89717698" "dup" "0" "00006" "PTEN_000059" "g.89717697_89717698dup" "" "{PMID:Desjardins 2023:34937768}" "" "722_723dupTT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87957941_87957942insTTTT" "" "pathogenic" "ACMG" "0000909277" "0" "70" "10" "89692993" "89692993" "subst" "0" "00006" "PTEN_000975" "g.89692993G>T" "" "{PMID:Desjardins 2023:34937768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87933236G>T" "" "likely pathogenic" "ACMG" "0000909278" "0" "90" "10" "89720804" "89720807" "del" "0" "00006" "PTEN_000102" "g.89720804_89720807del" "" "{PMID:Desjardins 2023:34937768}" "" "955_958delTACT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87961047_87961050del" "" "pathogenic" "ACMG" "0000909279" "0" "90" "10" "89720804" "89720807" "del" "0" "00006" "PTEN_000102" "g.89720804_89720807del" "" "{PMID:Desjardins 2023:34937768}" "" "955_958delTACT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87961047_87961050del" "" "pathogenic" "ACMG" "0000909280" "0" "90" "10" "89692868" "89692868" "dup" "0" "00006" "PTEN_000973" "g.89692868dup" "" "{PMID:Desjardins 2023:34937768}" "" "352dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87933111_87933112insCC" "" "pathogenic" "ACMG" "0000909281" "0" "90" "10" "89624274" "89624274" "subst" "0" "00006" "PTEN_000132" "g.89624274T>A" "" "{PMID:Desjardins 2023:34937768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87864517T>A" "" "pathogenic" "ACMG" "0000909282" "0" "90" "10" "89717777" "89717777" "del" "0" "00006" "PTEN_000978" "g.89717777del" "" "{PMID:Desjardins 2023:34937768}" "" "801+1delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87958020del" "" "pathogenic" "ACMG" "0000909283" "0" "90" "10" "89720669" "89720669" "del" "0" "00006" "PTEN_000979" "g.89720669del" "" "{PMID:Desjardins 2023:34937768}" "" "820delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87960912del" "" "pathogenic" "ACMG" "0000909284" "0" "90" "10" "89717634" "89717634" "dup" "0" "00006" "PTEN_000976" "g.89717634dup" "" "{PMID:Desjardins 2023:34937768}" "" "659dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87957877_87957878insTT" "" "pathogenic" "ACMG" "0000913351" "0" "90" "10" "89653868" "89653868" "subst" "0" "02329" "PTEN_000980" "g.89653868T>A" "" "" "" "PTEN(NM_000314.8):c.164+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913352" "0" "70" "10" "89685320" "89685320" "subst" "0" "02329" "PTEN_000981" "g.89685320T>A" "" "" "" "PTEN(NM_000314.8):c.209+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913353" "0" "90" "10" "89692800" "89692800" "subst" "0" "02329" "PTEN_000348" "g.89692800C>T" "" "" "" "PTEN(NM_000314.8):c.284C>T (p.P95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913354" "0" "90" "10" "89692832" "89692832" "subst" "0" "02327" "PTEN_000982" "g.89692832G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913355" "0" "30" "10" "89692837" "89692837" "subst" "4.06607E-5" "02326" "PTEN_000983" "g.89692837T>C" "" "" "" "PTEN(NM_001304717.5):c.841T>C (p.F281L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913356" "0" "70" "10" "89692880" "89692880" "subst" "0" "02327" "PTEN_000984" "g.89692880A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913357" "0" "70" "10" "89717733" "89717733" "subst" "0" "02327" "PTEN_000985" "g.89717733T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913358" "0" "30" "10" "89717799" "89717799" "subst" "0.000317163" "02329" "PTEN_000986" "g.89717799G>A" "" "" "" "PTEN(NM_000314.8):c.801+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913359" "0" "10" "10" "89720600" "89720637" "del" "0" "02329" "PTEN_000383" "g.89720600_89720637del" "" "" "" "PTEN(NM_000314.4):c.802-51_802-14del (p.(=)), PTEN(NM_000314.8):c.802-51_802-14del, PTEN(NM_000314.8):c.802-51_802-14del (None), PTEN(NM_001304718...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913360" "0" "30" "10" "89720646" "89720648" "dup" "0" "02326" "PTEN_000711" "g.89720646_89720648dup" "" "" "" "PTEN(NM_000314.8):c.802-5_802-3dupTTT, PTEN(NM_001304718.2):c.211-5_211-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913361" "0" "90" "10" "89725043" "89725043" "subst" "0" "02325" "PTEN_000987" "g.89725043G>T" "" "" "" "PTEN(NM_000314.8):c.1027-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913362" "0" "10" "10" "89725304" "89725304" "del" "0" "02329" "PTEN_000988" "g.89725304del" "" "" "" "PTEN(NM_000314.8):c.*75delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925214" "0" "50" "10" "89621905" "89621906" "del" "0.00142195" "01804" "KLLN_000006" "g.89621905_89621906del" "" "" "" "KLLN(NM_001126049.1):c.339_340del (p.(Ala115SerfsTer58)), KLLN(NM_001126049.1):c.339_340delAG (p.A115Sfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925215" "0" "30" "10" "89623716" "89623716" "subst" "0" "02326" "PTEN_000600" "g.89623716G>A" "" "" "" "PTEN(NM_000314.4):c.-510G>A, PTEN(NM_000314.8):c.-511G>A, PTEN(NM_001304717.5):c.10G>A (p.(Gly4Arg), p.G4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925216" "0" "50" "10" "89624297" "89624297" "subst" "0" "01804" "KLLN_000041" "g.89624297A>C" "" "" "" "PTEN(NM_000314.4):c.71A>C (p.(Asp24Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925217" "0" "70" "10" "89653857" "89653859" "del" "0" "02327" "PTEN_000210" "g.89653857_89653859del" "" "" "" "PTEN(NM_000314.4):c.155_157delATG (p.D52del), PTEN(NM_001304717.5):c.670_672delTGA (p.D225del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925218" "0" "30" "10" "89690794" "89690794" "subst" "7.7674E-5" "02329" "PTEN_000209" "g.89690794T>C" "" "" "" "PTEN(NM_000314.4):c.210-9T>C (p.(=)), PTEN(NM_000314.8):c.210-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925219" "0" "90" "10" "89712015" "89712015" "subst" "4.10098E-6" "02326" "PTEN_000086" "g.89712015C>A" "" "" "" "PTEN(NM_000314.4):c.633C>A (p.C211*), PTEN(NM_000314.8):c.633C>A (p.C211*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925220" "0" "90" "10" "89720671" "89720671" "subst" "0" "02327" "PTEN_000944" "g.89720671G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925221" "0" "90" "10" "89725043" "89725043" "subst" "0" "02329" "PTEN_000962" "g.89725043G>A" "" "" "" "PTEN(NM_000314.8):c.1027-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927835" "0" "70" "10" "89720713" "89720713" "subst" "0" "03361" "PTEN_000989" "g.89720713A>T" "" "" "" "" "ACMG PS2, PM2_sup, PP4" "De novo" "" "" "0" "" "" "g.87960956A>T" "" "likely pathogenic" "ACMG" "0000929719" "0" "30" "10" "89623739" "89623741" "dup" "0" "01804" "KLLN_000022" "g.89623739_89623741dup" "" "" "" "PTEN(NM_000314.4):c.-488_-486dup (p.(=)), PTEN(NM_000314.4):c.-488_-486dupCGG, PTEN(NM_000314.8):c.-489_-487dupCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929720" "0" "70" "10" "89653862" "89653864" "del" "0" "02325" "PTEN_000990" "g.89653862_89653864del" "" "" "" "PTEN(NM_000314.8):c.160_162delGTA (p.V54del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929721" "0" "90" "10" "89717712" "89717712" "subst" "0" "02330" "PTEN_000130" "g.89717712C>T" "" "" "" "PTEN(NM_000314.4):c.737C>T (p.P246L, p.(Pro246Leu)), PTEN(NM_000314.8):c.737C>T (p.P246L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931501" "0" "70" "10" "89717729" "89717729" "subst" "0" "01164" "PTEN_000991" "g.89717729G>C" "" "" "" "" "ACMG: PP3_STR, PS2_MOD, PM5, PM2_SUP, PP2" "De novo" "-" "" "0" "" "" "g.87957972G>C" "" "pathogenic (dominant)" "ACMG" "0000949462" "0" "70" "10" "89685287" "89685287" "subst" "0" "02329" "PTEN_000992" "g.89685287A>C" "" "" "" "PTEN(NM_000314.8):c.182A>C (p.H61P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949463" "0" "30" "10" "89717596" "89717597" "dup" "0" "02329" "PTEN_000993" "g.89717596_89717597dup" "" "" "" "PTEN(NM_000314.8):c.635-15_635-14dupTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949464" "0" "90" "10" "89717615" "89717615" "subst" "0" "02329" "PTEN_000016" "g.89717615C>T" "" "" "" "PTEN(NM_000314.8):c.640C>T (p.Q214*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949465" "0" "10" "10" "89720646" "89720648" "dup" "0" "02329" "PTEN_000711" "g.89720646_89720648dup" "" "" "" "PTEN(NM_000314.8):c.802-5_802-3dupTTT, PTEN(NM_001304718.2):c.211-5_211-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949466" "0" "30" "10" "89720648" "89720648" "dup" "0" "02329" "PTEN_000214" "g.89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-15_802-14insT (p.(=)), PTEN(NM_000314.4):c.802-18_802-17insT, PTEN(NM_000314.4):c.802-2dupT, PTEN(NM_000314.8):c.802-3dupT,..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949467" "0" "90" "10" "89720852" "89720852" "subst" "0" "02330" "PTEN_000018" "g.89720852C>T" "" "" "" "PTEN(NM_000314.4):c.1003C>T (p.R335*, p.(Arg335*)), PTEN(NM_000314.8):c.1003C>T (p.R335*), PTEN(NM_001304718.2):c.412C>T (p.H138Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000959824" "0" "90" "10" "89712020" "89712020" "subst" "0" "03779" "PTEN_000375" "g.89712020A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1554900675" "0" "" "" "" "" "pathogenic" "" "0000965907" "0" "30" "10" "89623056" "89623056" "subst" "0" "02325" "KLLN_000042" "g.89623056C>T" "" "" "" "PTEN(NM_000314.8):c.-1171C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965908" "0" "50" "10" "89623383" "89623383" "subst" "0" "02327" "PTEN_000314" "g.89623383T>C" "" "" "" "PTEN(NM_000314.8):c.-844T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965909" "0" "90" "10" "89624275" "89624275" "subst" "0" "02330" "PTEN_000462" "g.89624275C>T" "" "" "" "PTEN(NM_000314.8):c.49C>T (p.Q17*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965910" "0" "10" "10" "89624340" "89624340" "subst" "0.00186009" "02327" "KLLN_000043" "g.89624340C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965911" "0" "10" "10" "89653686" "89653686" "subst" "0" "02327" "PTEN_000994" "g.89653686A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965912" "0" "50" "10" "89653818" "89653818" "subst" "0" "02327" "PTEN_000995" "g.89653818C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965913" "0" "30" "10" "89685266" "89685266" "subst" "0" "02327" "PTEN_000996" "g.89685266T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965914" "0" "30" "10" "89690809" "89690809" "subst" "4.08043E-6" "02327" "PTEN_000997" "g.89690809T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965915" "0" "30" "10" "89692866" "89692866" "subst" "8.12949E-6" "02327" "PTEN_000710" "g.89692866A>G" "" "" "" "PTEN(NM_000314.4):c.350A>G (p.(Asn117Ser)), PTEN(NM_000314.8):c.350A>G (p.N117S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965916" "0" "50" "10" "89692872" "89692872" "subst" "0" "02327" "PTEN_000998" "g.89692872T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965917" "0" "90" "10" "89692905" "89692905" "subst" "0" "02327" "PTEN_000885" "g.89692905G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965918" "0" "70" "10" "89711914" "89711916" "del" "0" "02327" "PTEN_000999" "g.89711914_89711916del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000965919" "0" "90" "10" "89717708" "89717708" "subst" "4.06151E-6" "02327" "PTEN_000060" "g.89717708C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965920" "0" "10" "10" "89720633" "89720633" "subst" "0" "02327" "PTEN_000693" "g.89720633C>T" "" "" "" "PTEN(NM_000314.8):c.802-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965921" "0" "10" "10" "89720647" "89720648" "dup" "0" "02329" "PTEN_000623" "g.89720647_89720648dup" "" "" "" "PTEN(NM_000314.4):c.802-17_802-16insTT (p.(=)), PTEN(NM_000314.4):c.802-4_802-3dupTT, PTEN(NM_000314.8):c.802-4_802-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965922" "0" "10" "10" "89720907" "89720907" "subst" "0.37258" "02327" "PTEN_000246" "g.89720907T>G" "" "" "" "PTEN(NM_000314.4):c.1026+32T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965923" "0" "30" "10" "89725058" "89725058" "subst" "0" "02327" "PTEN_001000" "g.89725058C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965924" "0" "30" "10" "89725121" "89725121" "subst" "0.000443402" "02330" "PTEN_000586" "g.89725121T>C" "" "" "" "PTEN(NM_000314.8):c.1104T>C (p.D368=), PTEN(NM_001304717.5):c.1624T>C (p.F542L), PTEN(NM_001304718.2):c.513T>C (p.I171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965925" "0" "30" "10" "89725142" "89725142" "subst" "0" "02327" "PTEN_001001" "g.89725142T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965926" "0" "50" "10" "89725147" "89725147" "subst" "2.07595E-5" "02327" "PTEN_001002" "g.89725147A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965927" "0" "30" "10" "89725178" "89725178" "subst" "0" "02327" "PTEN_001003" "g.89725178A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965928" "0" "50" "10" "89725207" "89725207" "subst" "0" "02327" "PTEN_001004" "g.89725207A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965929" "0" "50" "10" "89725212" "89725212" "subst" "0" "02327" "PTEN_001005" "g.89725212C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965930" "0" "30" "10" "89725304" "89725304" "subst" "0" "02327" "PTEN_001006" "g.89725304T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979211" "0" "50" "10" "89623714" "89623714" "subst" "0" "01804" "KLLN_000044" "g.89623714G>C" "" "" "" "PTEN(NM_001304717.5):c.8G>C (p.(Arg3Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979212" "0" "10" "10" "89623716" "89623716" "subst" "0" "01804" "PTEN_000600" "g.89623716G>A" "" "" "" "PTEN(NM_000314.4):c.-510G>A, PTEN(NM_000314.8):c.-511G>A, PTEN(NM_001304717.5):c.10G>A (p.(Gly4Arg), p.G4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979213" "0" "50" "10" "89623742" "89623750" "del" "0" "01804" "KLLN_000045" "g.89623742_89623750del" "" "" "" "PTEN(NM_001304717.5):c.36_44del (p.(Ala13_Ala15del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979214" "0" "30" "10" "89623752" "89623752" "subst" "0" "01804" "KLLN_000037" "g.89623752G>A" "" "" "" "PTEN(NM_001304717.5):c.46G>A (p.A16T, p.(Ala16Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979215" "0" "30" "10" "89623860" "89623861" "ins" "0" "01804" "KLLN_000046" "g.89623860_89623861insGG" "" "" "" "PTEN(NM_001304717.5):c.154_154+1insGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979216" "0" "30" "10" "89623861" "89623861" "subst" "0" "01804" "PTEN_000605" "g.89623861T>C" "" "" "" "PTEN(NM_000314.8):c.-366T>C, PTEN(NM_001304717.5):c.154+1T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979217" "0" "50" "10" "89623873" "89623873" "subst" "0" "01804" "KLLN_000047" "g.89623873G>A" "" "" "" "PTEN(NM_001304717.5):c.166G>A (p.(Gly56Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979218" "0" "50" "10" "89624068" "89624068" "subst" "0" "01804" "KLLN_000048" "g.89624068A>G" "" "" "" "PTEN(NM_001304717.5):c.361A>G (p.(Ser121Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979219" "0" "30" "10" "89624218" "89624218" "subst" "0.00361813" "01804" "PTEN_000023" "g.89624218C>G" "" "" "" "PTEN(NM_000314.8):c.-9C>G, PTEN(NM_001304717.5):c.511C>G (p.(Leu171Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979220" "0" "50" "10" "89624247" "89624247" "subst" "0" "02329" "KLLN_000049" "g.89624247G>T" "" "" "" "PTEN(NM_000314.8):c.21G>T (p.E7D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979221" "0" "70" "10" "89653809" "89653809" "subst" "0" "02327" "PTEN_001007" "g.89653809G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979222" "0" "90" "10" "89685307" "89685307" "subst" "0" "01804" "PTEN_000121" "g.89685307T>C" "" "" "" "PTEN(NM_000314.8):c.202T>C (p.(Tyr68His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979223" "0" "90" "10" "89692922" "89692922" "subst" "0" "02330" "PTEN_000129" "g.89692922T>C" "" "" "" "PTEN(NM_000314.8):c.406T>C (p.C136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979224" "0" "90" "10" "89692985" "89692985" "del" "0" "01804" "PTEN_001008" "g.89692985del" "" "" "" "PTEN(NM_000314.8):c.469del (p.(Glu157fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979225" "0" "90" "10" "89717608" "89717608" "subst" "0" "02329" "PTEN_000376" "g.89717608A>G" "" "" "" "PTEN(NM_000314.8):c.635-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979226" "0" "90" "10" "89717712" "89717712" "subst" "0" "02327" "PTEN_000130" "g.89717712C>T" "" "" "" "PTEN(NM_000314.4):c.737C>T (p.P246L, p.(Pro246Leu)), PTEN(NM_000314.8):c.737C>T (p.P246L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979227" "0" "50" "10" "89717720" "89717720" "subst" "0" "01804" "PTEN_001009" "g.89717720G>A" "" "" "" "PTEN(NM_000314.8):c.745G>A (p.(Val249Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985181" "3" "90" "10" "89717697" "89717698" "del" "0" "04685" "PTEN_001010" "g.89717697_89717698del" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.87957940_87957941del" "" "pathogenic" "" "0000985748" "0" "90" "10" "89720876" "89720876" "subst" "0" "00006" "PTEN_000401" "g.89720876G>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.87961119G>T" "" "pathogenic (dominant)" "" "0000985749" "0" "90" "10" "89653867" "89653871" "del" "0" "00006" "PTEN_000226" "g.89653867_89653871del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "164+1_164+5del5" "" "De novo" "" "" "0" "" "" "g.87894110_87894114del" "" "pathogenic (dominant)" "" "0000985750" "0" "90" "10" "89712016" "89712016" "dup" "0" "00006" "PTEN_000916" "g.89712016dup" "" "{PMID:Tatton-Brown 2017:28475857}" "" "634dupA" "" "De novo" "" "" "0" "" "" "g.87952259dup" "" "pathogenic (dominant)" "" "0000985751" "0" "90" "10" "89692905" "89692905" "subst" "0" "00006" "PTEN_000019" "g.89692905G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.87933148G>A" "" "pathogenic (dominant)" "" "0000985752" "0" "90" "10" "89692919" "89692923" "del" "0" "00006" "PTEN_001012" "g.89692919_89692923del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "403_407del5" "" "De novo" "" "" "0" "" "" "g.87933162_87933166del" "" "pathogenic (dominant)" "" "0000985753" "0" "90" "10" "89653833" "89653833" "subst" "0" "00006" "PTEN_000847" "g.89653833G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.87894076G>A" "" "pathogenic (dominant)" "" "0000985754" "21" "90" "10" "89692778" "89692778" "subst" "0" "00006" "PTEN_000133" "g.89692778T>C" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline" "" "" "0" "" "" "g.87933021T>C" "" "pathogenic (dominant)" "" "0000985755" "11" "90" "10" "89690813" "89690813" "del" "0" "00006" "PTEN_000072" "g.89690813del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "220delA" "" "Germline" "" "" "0" "" "" "g.87931056del" "" "pathogenic (dominant)" "" "0000985756" "11" "90" "10" "89717691" "89717691" "subst" "4.06144E-6" "00006" "PTEN_000559" "g.89717691T>C" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline" "" "" "0" "" "" "g.87957934T>C" "" "pathogenic (dominant)" "" "0000985757" "0" "90" "10" "89692769" "89692769" "subst" "0" "00006" "PTEN_001011" "g.89692769G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87933012G>A" "" "pathogenic (dominant)" "" "0000985758" "0" "90" "10" "89711899" "89711899" "subst" "0" "00006" "PTEN_000079" "g.89711899C>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87952142C>T" "" "pathogenic (dominant)" "" "0000985759" "0" "90" "10" "89692980" "89692980" "subst" "0" "00006" "PTEN_000094" "g.89692980A>G" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87933223A>G" "" "pathogenic (dominant)" "" "0000985760" "0" "90" "10" "89717699" "89717699" "subst" "0" "00006" "PTEN_001014" "g.89717699G>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87957942G>T" "" "pathogenic (dominant)" "" "0000985761" "0" "90" "10" "89711902" "89711902" "subst" "0" "00006" "PTEN_000905" "g.89711902T>C" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87952145T>C" "" "pathogenic (dominant)" "" "0000985762" "0" "90" "10" "89720852" "89720852" "subst" "0" "00006" "PTEN_000018" "g.89720852C>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87961095C>T" "" "pathogenic (dominant)" "" "0000985763" "0" "90" "10" "89717613" "89717613" "del" "0" "00006" "PTEN_001013" "g.89717613del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "638delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87957856del" "" "pathogenic (dominant)" "" "0000998585" "0" "50" "10" "89623526" "89623526" "subst" "0" "02327" "KLLN_000050" "g.89623526G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998586" "0" "30" "10" "89624116" "89624116" "subst" "0" "02327" "KLLN_000051" "g.89624116G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998587" "0" "90" "10" "89624246" "89624246" "del" "0" "02327" "PTEN_000668" "g.89624246del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998588" "0" "70" "10" "89624301" "89624301" "subst" "0" "02330" "KLLN_000052" "g.89624301G>C" "" "" "" "PTEN(NM_000314.8):c.75G>C (p.L25F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998589" "0" "70" "10" "89685287" "89685287" "subst" "0" "02327" "PTEN_000481" "g.89685287A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998590" "0" "50" "10" "89685311" "89685311" "subst" "0" "02327" "PTEN_001015" "g.89685311A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998591" "0" "90" "10" "89685315" "89685315" "subst" "0" "02325" "PTEN_000099" "g.89685315G>A" "" "" "" "PTEN(NM_000314.8):c.209+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998592" "0" "30" "10" "89690828" "89690828" "subst" "0.000106134" "01804" "PTEN_000248" "g.89690828G>A" "" "" "" "PTEN(NM_000314.4):c.235G>A (p.(Ala79Thr)), PTEN(NM_000314.8):c.235G>A (p.A79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998593" "0" "50" "10" "89692907" "89692907" "subst" "0" "02330" "PTEN_001016" "g.89692907A>G" "" "" "" "PTEN(NM_000314.8):c.391A>G (p.T131A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998594" "0" "70" "10" "89711888" "89711888" "subst" "0" "01804" "PTEN_001017" "g.89711888C>G" "" "" "" "PTEN(NM_000314.4):c.506C>G (p.(Pro169Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998595" "0" "70" "10" "89717669" "89717669" "dup" "0" "01804" "PTEN_001018" "g.89717669dup" "" "" "" "PTEN(NM_000314.4):c.694dupA (p.(Thr232fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998596" "0" "50" "10" "89717720" "89717720" "subst" "0" "02327" "PTEN_001009" "g.89717720G>A" "" "" "" "PTEN(NM_000314.8):c.745G>A (p.(Val249Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998597" "0" "50" "10" "89717754" "89717754" "subst" "4.06171E-6" "02326" "PTEN_000691" "g.89717754A>G" "" "" "" "PTEN(NM_000314.4):c.779A>G (p.K260R), PTEN(NM_000314.8):c.779A>G (p.K260R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998598" "0" "90" "10" "89720852" "89720852" "subst" "0" "01804" "PTEN_000018" "g.89720852C>T" "" "" "" "PTEN(NM_000314.4):c.1003C>T (p.R335*, p.(Arg335*)), PTEN(NM_000314.8):c.1003C>T (p.R335*), PTEN(NM_001304718.2):c.412C>T (p.H138Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998599" "0" "10" "10" "89720996" "89720996" "subst" "0" "02327" "PTEN_001019" "g.89720996C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998600" "0" "30" "10" "89725078" "89725078" "subst" "8.33792E-5" "01804" "PTEN_000584" "g.89725078C>A" "" "" "" "PTEN(NM_000314.4):c.1061C>A (p.(Pro354Gln), p.P354Q), PTEN(NM_000314.8):c.1061C>A (p.P354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998601" "0" "10" "10" "89726931" "89726931" "subst" "0" "02327" "PTEN_001020" "g.89726931G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998602" "0" "10" "10" "89727174" "89727174" "subst" "0" "02327" "PTEN_001021" "g.89727174G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998603" "0" "10" "10" "89727184" "89727184" "subst" "0" "02327" "PTEN_001022" "g.89727184T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998604" "0" "10" "10" "89727402" "89727402" "subst" "0" "02327" "PTEN_001023" "g.89727402C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001011954" "0" "90" "10" "89685317" "89690802" "del" "0" "00006" "PTEN_001024" "g.89685317_89690802del" "" "{PMID:Salinas 2020:33084218}" "" "208_209insTG" "" "Unknown" "" "" "0" "" "" "g.87925560_87931045del" "SUB7802888" "pathogenic" "" "0001014671" "0" "50" "10" "89622115" "89622115" "subst" "0.00131121" "02325" "KLLN_000008" "g.89622115C>G" "" "" "" "KLLN(NM_001126049.1):c.130G>C (p.(Gly44Arg), p.G44R), KLLN(NM_001126049.2):c.130G>C (p.G44R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014672" "0" "30" "10" "89623056" "89623056" "subst" "0" "02327" "KLLN_000042" "g.89623056C>T" "" "" "" "PTEN(NM_000314.8):c.-1171C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014673" "0" "30" "10" "89623142" "89623142" "subst" "0" "02327" "KLLN_000012" "g.89623142C>T" "" "" "" "KLLN(NM_001126049.2):c.-898G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014674" "0" "10" "10" "89623323" "89623323" "subst" "0" "02327" "PTEN_000321" "g.89623323G>A" "" "" "" "KLLN(NM_001126049.2):c.-1079C>T, PTEN(NM_000314.8):c.-904G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014675" "0" "30" "10" "89623385" "89623385" "subst" "0" "02327" "KLLN_000053" "g.89623385C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014676" "0" "30" "10" "89623392" "89623392" "subst" "0" "02327" "PTEN_000106" "g.89623392C>T" "" "" "" "PTEN(NM_000314.8):c.-835C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014677" "0" "10" "10" "89623716" "89623716" "subst" "0" "02327" "PTEN_000600" "g.89623716G>A" "" "" "" "PTEN(NM_000314.4):c.-510G>A, PTEN(NM_000314.8):c.-511G>A, PTEN(NM_001304717.5):c.10G>A (p.(Gly4Arg), p.G4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014678" "0" "30" "10" "89623766" "89623766" "subst" "0" "02327" "KLLN_000024" "g.89623766G>A" "" "" "" "PTEN(NM_000314.8):c.-461G>A, PTEN(NM_001304717.5):c.60G>A (p.R20=, p.(Arg20Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014679" "0" "10" "10" "89623861" "89623861" "del" "0" "02327" "PTEN_000311" "g.89623861del" "" "" "" "PTEN(NM_000314.4):c.-366delT, PTEN(NM_000314.8):c.-366delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014680" "0" "10" "10" "89623901" "89623901" "subst" "0" "02327" "PTEN_000312" "g.89623901G>C" "" "" "" "PTEN(NM_000314.4):c.-326G>C, PTEN(NM_000314.8):c.-326G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014681" "0" "30" "10" "89623915" "89623915" "subst" "0" "02327" "KLLN_000054" "g.89623915C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014682" "0" "30" "10" "89624008" "89624008" "subst" "0" "02327" "KLLN_000055" "g.89624008C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014683" "0" "30" "10" "89624106" "89624106" "subst" "0" "02327" "KLLN_000056" "g.89624106A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014684" "0" "50" "10" "89624124" "89624124" "subst" "0" "02327" "KLLN_000057" "g.89624124T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014685" "0" "90" "10" "89711930" "89711930" "dup" "0" "02330" "PTEN_000231" "g.89711930dup" "" "" "" "PTEN(NM_000314.8):c.548dupA (p.N184Efs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014686" "0" "30" "10" "89712006" "89712006" "subst" "8.17842E-6" "02329" "PTEN_001025" "g.89712006C>T" "" "" "" "PTEN(NM_000314.8):c.624C>T (p.G208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014687" "0" "30" "10" "89717695" "89717695" "subst" "6.09206E-5" "02327" "PTEN_000825" "g.89717695C>T" "" "" "" "PTEN(NM_000314.8):c.720C>T (p.Y240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014688" "0" "70" "10" "89717777" "89717777" "subst" "0" "02329" "PTEN_001026" "g.89717777G>C" "" "" "" "PTEN(NM_000314.8):c.801+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014689" "0" "50" "10" "89720679" "89720679" "subst" "0" "01804" "PTEN_001027" "g.89720679C>A" "" "" "" "PTEN(NM_000314.4):c.830C>A (p.(Thr277Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014690" "0" "10" "10" "89726849" "89726849" "subst" "0" "02327" "PTEN_001028" "g.89726849T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001016650" "0" "90" "10" "89720649" "89720649" "subst" "0" "04749" "PTEN_000939" "g.89720649A>G" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.87960892A>G" "" "pathogenic" "" "0001016651" "0" "90" "10" "89720649" "89720649" "subst" "0" "04749" "PTEN_000939" "g.89720649A>G" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.87960892A>G" "" "pathogenic" "" "0001020275" "0" "70" "10" "89711927" "89711927" "subst" "0" "03544" "PTEN_001029" "g.89711927T>A" "" "" "" "" "" "Germline" "?" "rs794729664" "0" "" "" "g.87952170T>A" "{CV:428232}" "pathogenic" "ACMG" "0001022167" "0" "50" "10" "89653803" "89653803" "subst" "0" "04796" "PTEN_000733" "g.89653803C>G" "" "" "" "" "no effect on RNA" "In vitro (cloned)" "" "" "0" "" "" "g.87894046C>G" "" "VUS" "" "0001025785" "0" "30" "10" "89623714" "89623714" "subst" "0" "02327" "KLLN_000038" "g.89623714G>T" "" "" "" "PTEN(NM_000314.8):c.-513G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025786" "0" "10" "10" "89623962" "89623962" "subst" "0" "02327" "KLLN_000025" "g.89623962G>A" "" "" "" "PTEN(NM_000314.8):c.-265G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025787" "0" "30" "10" "89624032" "89624032" "subst" "0" "02327" "KLLN_000058" "g.89624032G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025788" "0" "30" "10" "89624175" "89624175" "subst" "0" "02327" "KLLN_000059" "g.89624175G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025789" "0" "70" "10" "89685275" "89685275" "subst" "0" "02327" "PTEN_000853" "g.89685275T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025790" "0" "30" "10" "89690796" "89690800" "del" "0" "02325" "PTEN_000140" "g.89690796_89690800del" "" "" "" "PTEN(NM_000314.4):c.210-12_210-8delCTTTT, PTEN(NM_000314.4):c.210-7_210-3del (p.?), PTEN(NM_000314.8):c.210-7_210-3delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025791" "0" "10" "10" "89690796" "89690800" "del" "0" "01804" "PTEN_000140" "g.89690796_89690800del" "" "" "" "PTEN(NM_000314.4):c.210-12_210-8delCTTTT, PTEN(NM_000314.4):c.210-7_210-3del (p.?), PTEN(NM_000314.8):c.210-7_210-3delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025792" "0" "90" "10" "89690809" "89690809" "dup" "0" "02330" "PTEN_001030" "g.89690809dup" "" "" "" "PTEN(NM_000314.8):c.216dupT (p.E73*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025793" "0" "10" "10" "89690827" "89690827" "subst" "9.79288E-5" "02329" "PTEN_000494" "g.89690827C>T" "" "" "" "PTEN(NM_000314.4):c.234C>T (p.(Thr78=)), PTEN(NM_000314.8):c.234C>T (p.T78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025794" "0" "90" "10" "89692905" "89692905" "del" "0" "02330" "PTEN_000884" "g.89692905del" "" "" "" "PTEN(NM_000314.8):c.389delG (p.R130Qfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025795" "0" "90" "10" "89720808" "89720808" "del" "0" "02327" "PTEN_001031" "g.89720808del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025796" "0" "30" "10" "89720883" "89720883" "subst" "0" "02329" "PTEN_001032" "g.89720883A>T" "" "" "" "PTEN(NM_000314.8):c.1026+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029897" "0" "90" "10" "89712017" "89712017" "subst" "0" "03779" "PTEN_000374" "g.89712017G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1114167622" "0" "" "" "" "" "pathogenic" "" "0001029904" "0" "90" "10" "89692904" "89692904" "subst" "0" "03779" "PTEN_000354" "g.89692904C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs121909224" "0" "" "" "" "" "pathogenic" "" "0001029905" "0" "90" "10" "89692904" "89692904" "subst" "1.21875E-5" "03779" "PTEN_000013" "g.89692904C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs121909224" "0" "" "" "" "" "pathogenic" "" "0001030035" "0" "90" "10" "89692905" "89692905" "subst" "0" "03779" "PTEN_000019" "g.89692905G>A" "" "" "" "" "" "Unknown" "" "rs121909229" "0" "" "" "" "" "pathogenic" "" "0001030036" "0" "90" "10" "89712018" "89712018" "subst" "0" "03779" "PTEN_000918" "g.89712018T>G" "" "" "" "" "" "Unknown" "" "rs727504114" "0" "" "" "" "" "pathogenic" "" "0001030148" "0" "90" "10" "89711900" "89711900" "subst" "8.13213E-6" "03779" "PTEN_000196" "g.89711900G>A" "" "" "" "" "" "Unknown" "" "rs121913294" "0" "" "" "" "" "pathogenic" "" "0001038073" "0" "50" "10" "89621769" "89621770" "del" "0" "01804" "KLLN_000060" "g.89621769_89621770del" "" "" "" "KLLN(NM_001126049.2):c.480_481del (p.(Arg160Serfs*13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038074" "0" "30" "10" "89621948" "89621948" "subst" "5.38583E-5" "01804" "KLLN_000013" "g.89621948G>C" "" "" "" "KLLN(NM_001126049.1):c.297C>G (p.C99W, p.(Cys99Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038075" "0" "30" "10" "89623251" "89623251" "subst" "0" "02327" "PTEN_000320" "g.89623251G>A" "" "" "" "PTEN(NM_000314.8):c.-976G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038076" "0" "30" "10" "89623766" "89623766" "subst" "0" "01804" "KLLN_000024" "g.89623766G>A" "" "" "" "PTEN(NM_000314.8):c.-461G>A, PTEN(NM_001304717.5):c.60G>A (p.R20=, p.(Arg20Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038077" "0" "30" "10" "89623870" "89623870" "subst" "0" "02327" "KLLN_000061" "g.89623870C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038078" "0" "50" "10" "89623919" "89623919" "subst" "0" "01804" "KLLN_000062" "g.89623919C>G" "" "" "" "PTEN(NM_001304717.5):c.212C>G (p.(Pro71Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038079" "0" "50" "10" "89624047" "89624047" "subst" "0" "02327" "KLLN_000063" "g.89624047C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038080" "0" "30" "10" "89624075" "89624075" "subst" "0" "01804" "KLLN_000064" "g.89624075A>G" "" "" "" "PTEN(NM_001304717.5):c.368A>G (p.(Tyr123Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038081" "0" "30" "10" "89624075" "89624075" "subst" "0" "02327" "KLLN_000064" "g.89624075A>G" "" "" "" "PTEN(NM_001304717.5):c.368A>G (p.(Tyr123Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038082" "0" "70" "10" "89624282" "89624282" "subst" "0" "01804" "KLLN_000065" "g.89624282A>T" "" "" "" "PTEN(NM_000314.8):c.56A>T (p.(Asp19Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038083" "0" "90" "10" "89653805" "89653805" "subst" "0" "01804" "PTEN_000080" "g.89653805A>G" "" "" "" "PTEN(NM_000314.8):c.103A>G (p.(Met35Val), p.M35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038084" "0" "90" "10" "89692919" "89692923" "del" "0" "02325" "PTEN_001012" "g.89692919_89692923del" "" "" "" "PTEN(NM_000314.8):c.403_407delATATG (p.I135Cfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038085" "0" "70" "10" "89692965" "89692965" "subst" "0" "02327" "PTEN_001033" "g.89692965A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038086" "0" "70" "10" "89717733" "89717733" "subst" "0" "01804" "PTEN_001034" "g.89717733T>A" "" "" "" "PTEN(NM_000314.8):c.758T>A (p.(Ile253Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046252" "0" "50" "10" "89624068" "89624068" "subst" "0" "02327" "KLLN_000048" "g.89624068A>G" "" "" "" "PTEN(NM_001304717.5):c.361A>G (p.(Ser121Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046253" "0" "90" "10" "89720737" "89720737" "subst" "0" "02326" "PTEN_001035" "g.89720737T>A" "" "" "" "PTEN(NM_000314.4):c.888T>A (p.C296*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046254" "0" "30" "10" "89725078" "89725078" "subst" "8.33792E-5" "02326" "PTEN_000584" "g.89725078C>A" "" "" "" "PTEN(NM_000314.4):c.1061C>A (p.(Pro354Gln), p.P354Q), PTEN(NM_000314.8):c.1061C>A (p.P354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047161" "0" "30" "10" "89624340" "89624340" "subst" "0.00186009" "03779" "KLLN_000043" "g.89624340C>T" "" "" "" "" "" "Unknown" "" "rs190707033" "0" "" "" "" "" "likely benign" "" "0001047162" "0" "30" "10" "89624340" "89624340" "subst" "0.00186009" "03779" "KLLN_000043" "g.89624340C>T" "" "" "" "" "" "Unknown" "" "rs190707033" "0" "" "" "" "" "likely benign" "" "0001047170" "0" "70" "10" "89717712" "89717712" "subst" "0" "03820" "PTEN_000130" "g.89717712C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87957955C>T" "" "pathogenic" "ACMG" "0001047245" "0" "30" "10" "89712176" "89712176" "subst" "0" "03779" "PTEN_001036" "g.89712176T>G" "" "" "" "" "" "Unknown" "" "rs187010588" "0" "" "" "" "" "likely benign" "" "0001047290" "0" "10" "10" "89692740" "89692740" "dup" "0" "03779" "PTEN_000347" "g.89692740dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0001048138" "0" "90" "10" "89725042" "89725042" "subst" "0" "03779" "PTEN_000404" "g.89725042A>G" "" "" "" "" "" "Unknown" "" "rs1085308041" "0" "" "" "" "" "pathogenic" "" "0001049123" "0" "30" "10" "89720996" "89720996" "subst" "0" "03779" "PTEN_001019" "g.89720996C>T" "" "" "" "" "" "Unknown" "" "rs536465299" "0" "" "" "" "" "likely benign" "" "0001049671" "0" "70" "10" "89685317" "89685317" "subst" "0" "01164" "PTEN_001037" "g.89685317A>T" "" "" "" "" "ACMG: PVS1_RNA-strong, PS1-moderate, PM2-supporting; 1) RNA-anylsis shows complete in-frame Skipping of exon 3\r\n2) Additional variants at this splice junction have been reported as pathogenic (e.g.NM_000314.8:c.209+4A>G, ClinVar ID 1182096; c.209+5G>A ClinVar ID 427614" "Germline" "?" "" "0" "" "" "g.87925560A>T" "" "likely pathogenic (dominant)" "ACMG" "0001053635" "0" "50" "10" "89621869" "89621869" "subst" "2.08966E-5" "01804" "KLLN_000066" "g.89621869C>T" "" "" "" "KLLN(NM_001126049.1):c.376G>A (p.(Gly126Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053636" "0" "30" "10" "89623636" "89623636" "subst" "0" "02369" "KLLN_000067" "g.89623636G>A" "" "" "" "PTEN(NM_000314.8):c.-591G>A (None)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053637" "0" "30" "10" "89623641" "89623641" "subst" "0" "01804" "KLLN_000068" "g.89623641G>A" "" "" "" "PTEN(NM_000314.8):c.-586G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053638" "0" "30" "10" "89623861" "89623861" "subst" "0" "02327" "PTEN_000605" "g.89623861T>C" "" "" "" "PTEN(NM_000314.8):c.-366T>C, PTEN(NM_001304717.5):c.154+1T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053639" "0" "50" "10" "89623898" "89623898" "subst" "0" "01804" "KLLN_000069" "g.89623898C>G" "" "" "" "PTEN(NM_001304717.5):c.191C>G (p.(Pro64Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053640" "0" "50" "10" "89623928" "89623928" "subst" "0" "01804" "KLLN_000070" "g.89623928G>A" "" "" "" "PTEN(NM_001304717.5):c.221G>A (p.(Arg74Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053641" "0" "50" "10" "89624143" "89624143" "subst" "0" "01804" "KLLN_000071" "g.89624143A>G" "" "" "" "PTEN(NM_001304717.5):c.436A>G (p.(Ile146Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053642" "0" "90" "10" "89685308" "89685308" "subst" "0" "02369" "PTEN_000044" "g.89685308A>G" "" "" "" "PTEN(NM_000314.8):c.203A>G (p.Tyr68Cys)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053643" "0" "90" "10" "89685309" "89685309" "subst" "0" "01804" "PTEN_000486" "g.89685309C>A" "" "" "" "PTEN(NM_000314.4):c.204C>A (p.(Tyr68Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053644" "0" "10" "10" "89690764" "89690764" "subst" "0.00258728" "02369" "PTEN_000037" "g.89690764A>G" "" "" "" "PTEN(NM_000314.8):c.210-39A>G (None)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001053645" "0" "10" "10" "89692740" "89692740" "dup" "0" "02369" "PTEN_000347" "g.89692740dup" "" "" "" "PTEN(NM_000314.8):c.254-30dupT (None)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001053646" "0" "70" "10" "89692847" "89692847" "subst" "0" "02369" "PTEN_000240" "g.89692847T>A" "" "" "" "PTEN(NM_000314.8):c.331T>A (p.Trp111Arg)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001053647" "0" "90" "10" "89717712" "89717712" "subst" "0" "01804" "PTEN_000130" "g.89717712C>T" "" "" "" "PTEN(NM_000314.4):c.737C>T (p.P246L, p.(Pro246Leu)), PTEN(NM_000314.8):c.737C>T (p.P246L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053648" "0" "10" "10" "89720600" "89720637" "del" "0" "01804" "PTEN_000383" "g.89720600_89720637del" "" "" "" "PTEN(NM_000314.4):c.802-51_802-14del (p.(=)), PTEN(NM_000314.8):c.802-51_802-14del, PTEN(NM_000314.8):c.802-51_802-14del (None), PTEN(NM_001304718...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001053649" "0" "10" "10" "89720600" "89720637" "del" "0" "02369" "PTEN_000383" "g.89720600_89720637del" "" "" "" "PTEN(NM_000314.4):c.802-51_802-14del (p.(=)), PTEN(NM_000314.8):c.802-51_802-14del, PTEN(NM_000314.8):c.802-51_802-14del (None), PTEN(NM_001304718...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001053650" "0" "30" "10" "89720617" "89720617" "subst" "0" "02369" "PTEN_000155" "g.89720617C>A" "" "" "" "PTEN(NM_000314.8):c.802-34C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053651" "0" "90" "10" "89720749" "89720750" "ins" "0" "02369" "PTEN_001038" "g.89720749_89720750insCC" "" "" "" "PTEN(NM_000314.8):c.900_901insCC (p.Asp301ProfsTer7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 PTEN ## Count = 1458 "{{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}}" "0000021746" "00017092" "70" "956" "0" "959" "0" "c.956_959del" "r.(?)" "p.(Thr319Lysfs*24)" "8" "0000063813" "00017092" "10" "-326" "0" "-326" "0" "c.-326G>C" "r.(=)" "p.(=)" "1" "0000063814" "00017092" "50" "-646" "0" "-646" "0" "c.-646C>T" "r.(=)" "p.(=)" "1" "0000063815" "00017092" "90" "4383" "0" "4383" "0" "c.*3171dup" "r.(=)" "p.(=)" "9" "0000063816" "00017092" "90" "164" "1" "164" "5" "c.164+1_164+5del" "r.spl?" "p.?" "2i" "0000063817" "00017092" "10" "-366" "0" "-366" "0" "c.-366del" "r.(=)" "p.(=)" "1" "0000063818" "00017092" "90" "46" "0" "46" "0" "c.46dup" "r.(?)" "p.(Tyr16Leufs*28)" "1" "0000063819" "00017092" "10" "1027" "-198" "1027" "-198" "c.1027-198T>C" "r.(=)" "p.(=)" "8i" "0000063820" "00017092" "50" "-844" "0" "-844" "0" "c.-844T>C" "r.(=)" "p.(=)" "1" "0000063821" "00017092" "50" "-976" "0" "-976" "0" "c.-976G>C" "r.(=)" "p.(=)" "1" "0000063822" "00017092" "10" "634" "46" "634" "46" "c.634+46C>T" "r.(=)" "p.(=)" "6i" "0000063823" "00017092" "90" "6060" "0" "6064" "0" "c.*4848_*4852dup" "r.(=)" "p.(=)" "9_" "0000073927" "00017092" "99" "217" "0" "217" "0" "c.217G>T" "r.(?)" "p.(Glu73*)" "4" "0000073928" "00017092" "99" "302" "0" "304" "0" "c.302_304delinsCC" "r.(?)" "p.(Ile101Thrfs*12)" "5" "0000076125" "00017092" "90" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.(Leu112Val)" "5" "0000076126" "00017092" "90" "47" "0" "47" "0" "c.47dup" "r.(?)" "p.(Tyr16*)" "1" "0000076764" "00017092" "90" "634" "5" "634" "5" "c.634+5G>A" "r.spl" "p.?" "6i" "0000089795" "00017092" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "5" "0000089796" "00017092" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "5" "0000089797" "00017092" "70" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233*)" "7" "0000089798" "00017092" "70" "469" "0" "469" "0" "c.469G>T" "r.(?)" "p.(Glu157*)" "5" "0000089799" "00017092" "90" "510" "0" "510" "0" "c.510T>R" "r.(?)" "p.(Ser170Arg)" "6" "0000089800" "00017092" "90" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233*)" "7" "0000134747" "00017092" "90" "437" "0" "438" "0" "c.[437_438insNC_000004.11:g.97897210_97897530;ins421_437]" "r.?" "p.?" "5" "0000134748" "00017092" "90" "437" "0" "438" "0" "c.[437_438insNC_000006.11:g.74156323_74156488;ins421_437]" "r.?" "p.?" "5" "0000148986" "00017092" "00" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000148987" "00017092" "00" "834" "0" "834" "0" "c.834C>A" "r.(?)" "p.(Phe278Leu)" "" "0000246932" "00017092" "10" "801" "12" "801" "12" "c.801+12A>G" "r.(=)" "p.(=)" "" "0000246946" "00017092" "30" "411" "0" "411" "0" "c.411A>G" "r.(?)" "p.(Ala137=)" "" "0000246952" "00017092" "30" "-893" "0" "-893" "0" "c.-893A>G" "r.(?)" "p.(=)" "" "0000246954" "00017092" "90" "129" "0" "129" "0" "c.129del" "r.(?)" "p.(Gly44AlafsTer10)" "" "0000250339" "00017092" "30" "1170" "0" "1170" "0" "c.1170A>C" "r.(?)" "p.(Glu390Asp)" "" "0000250402" "00017092" "30" "-2034" "0" "-2034" "0" "c.-2034A>C" "r.(?)" "p.(=)" "" "0000278603" "00017092" "30" "-1312" "0" "-1312" "0" "c.-1312T>C" "r.(?)" "p.(=)" "" "0000278604" "00017092" "50" "-1196" "0" "-1185" "0" "c.-1196_-1185del" "r.(?)" "p.(=)" "" "0000278605" "00017092" "30" "-1085" "0" "-1085" "0" "c.-1085C>T" "r.(?)" "p.(=)" "" "0000281830" "00017092" "50" "-2176" "0" "-2176" "0" "c.-2176G>C" "r.(?)" "p.(=)" "" "0000281831" "00017092" "10" "-2364" "0" "-2364" "0" "c.-2364G>C" "r.(?)" "p.(=)" "" "0000283496" "00017092" "50" "-2112" "0" "-2112" "0" "c.-2112C>G" "r.(?)" "p.(=)" "" "0000283497" "00017092" "50" "-2322" "0" "-2321" "0" "c.-2322_-2321del" "r.(?)" "p.(=)" "" "0000290418" "00017092" "50" "-2454" "0" "-2454" "0" "c.-2454C>A" "r.(?)" "p.(=)" "" "0000294554" "00017092" "30" "-316" "0" "-314" "0" "c.-316_-314del" "r.(?)" "p.(=)" "" "0000294555" "00017092" "10" "-326" "0" "-326" "0" "c.-326=" "r.(=)" "p.(=)" "" "0000294556" "00017092" "10" "-366" "0" "-365" "0" "c.-366_-365=" "r.(=)" "p.(=)" "" "0000294557" "00017092" "10" "-366" "0" "-366" "0" "c.-366dup" "r.(?)" "p.(=)" "" "0000294558" "00017092" "30" "-365" "0" "-363" "0" "c.-365_-363del" "r.(?)" "p.(=)" "" "0000294562" "00017092" "10" "-510" "0" "-510" "0" "c.-510G>A" "r.(?)" "p.(=)" "" "0000294563" "00017092" "50" "-843" "0" "-843" "0" "c.-843T>C" "r.(?)" "p.(=)" "" "0000294564" "00017092" "30" "-903" "0" "-903" "0" "c.-903G>A" "r.(?)" "p.(=)" "" "0000294565" "00017092" "30" "-975" "0" "-975" "0" "c.-975G>A" "r.(?)" "p.(=)" "" "0000294566" "00017092" "30" "210" "-9" "210" "-9" "c.210-9T>C" "r.(=)" "p.(=)" "" "0000294567" "00017092" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Thr78=)" "" "0000294568" "00017092" "30" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000294569" "00017092" "30" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Ala79Ser)" "" "0000294571" "00017092" "10" "802" "-4" "802" "-3" "c.802-4_802-3del" "r.spl?" "p.?" "" "0000294572" "00017092" "10" "802" "-3" "802" "-3" "c.802-3del" "r.spl?" "p.?" "" "0000294574" "00017092" "30" "802" "-51" "802" "-14" "c.802-51_802-14del" "r.(=)" "p.(=)" "" "0000297486" "00017092" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Ter)" "" "0000297487" "00017092" "50" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0000297488" "00017092" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Gly44=)" "" "0000297489" "00017092" "10" "802" "-3" "802" "-3" "c.802-3dup" "r.spl?" "p.?" "" "0000297490" "00017092" "10" "802" "-4" "802" "-3" "c.802-4_802-3dup" "r.spl?" "p.?" "" "0000297491" "00017092" "30" "802" "-3" "802" "-3" "c.802-3del" "r.spl?" "p.?" "" "0000299209" "00017092" "30" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Asp368=)" "" "0000299210" "00017092" "30" "802" "-5" "802" "-3" "c.802-5_802-3del" "r.spl?" "p.?" "" "0000299211" "00017092" "30" "802" "-4" "802" "-3" "c.802-4_802-3del" "r.spl?" "p.?" "" "0000299212" "00017092" "10" "802" "-3" "802" "-3" "c.802-3del" "r.spl?" "p.?" "" "0000301297" "00017092" "10" "1026" "219" "1026" "219" "c.1026+219C>T" "r.(=)" "p.(=)" "" "0000301298" "00017092" "10" "802" "-3" "802" "-3" "c.802-3dup" "r.spl?" "p.?" "" "0000301299" "00017092" "10" "802" "-3" "802" "-3" "c.802-3del" "r.spl?" "p.?" "" "0000306586" "00017092" "30" "1069" "0" "1069" "0" "c.1069C>A" "r.(?)" "p.(Pro357Thr)" "" "0000306588" "00017092" "70" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Asp92=)" "" "0000306589" "00017092" "50" "365" "0" "365" "0" "c.365T>C" "r.(?)" "p.(Ile122Thr)" "" "0000306590" "00017092" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Ter)" "" "0000306591" "00017092" "50" "460" "0" "460" "0" "c.460T>G" "r.(?)" "p.(Phe154Val)" "" "0000306592" "00017092" "90" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Gln171Ter)" "" "0000306593" "00017092" "70" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173His)" "" "0000306595" "00017092" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Gly44=)" "" "0000306596" "00017092" "30" "802" "-3" "802" "-3" "c.802-3dup" "r.spl?" "p.?" "" "0000306597" "00017092" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Val119Phe)" "" "0000321662" "00017092" "30" "-2427" "0" "-2427" "0" "c.-2427A>T" "r.(?)" "p.(=)" "" "0000321663" "00017092" "50" "-2417" "0" "-2417" "0" "c.-2417del" "r.(?)" "p.(=)" "" "0000321664" "00017092" "10" "-2374" "0" "-2374" "0" "c.-2374T>C" "r.(?)" "p.(=)" "" "0000321665" "00017092" "10" "-2364" "0" "-2364" "0" "c.-2364G>C" "r.(?)" "p.(=)" "" "0000321667" "00017092" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Ter)" "" "0000321668" "00017092" "50" "804" "0" "804" "0" "c.804C>A" "r.(?)" "p.(Asp268Glu)" "" "0000336859" "00017092" "90" "1027" "-2" "1027" "-2" "c.1027-2A>C" "r.spl?" "p.?" "" "0000338865" "00017092" "10" "-1026" "0" "-1026" "0" "c.-1026C>A" "r.(?)" "p.(=)" "" "0000338866" "00017092" "30" "79" "7" "79" "7" "c.79+7A>T" "r.(=)" "p.(=)" "" "0000338868" "00017092" "90" "165" "-1" "165" "-1" "c.165-1G>A" "r.spl?" "p.?" "" "0000338869" "00017092" "90" "209" "5" "209" "5" "c.209+5G>A" "r.spl?" "p.?" "" "0000338870" "00017092" "30" "210" "-39" "210" "-39" "c.210-39A>G" "r.(=)" "p.(=)" "" "0000338872" "00017092" "90" "493" "-2" "493" "-2" "c.493-2A>G" "r.spl?" "p.?" "" "0000338873" "00017092" "90" "634" "4" "634" "4" "c.634+4A>G" "r.spl?" "p.?" "" "0000338874" "00017092" "90" "635" "-2" "635" "-2" "c.635-2A>G" "r.spl?" "p.?" "" "0000338878" "00017092" "90" "802" "-2" "802" "-2" "c.802-2A>T" "r.spl?" "p.?" "" "0000338879" "00017092" "90" "1026" "1" "1026" "1" "c.1026+1G>A" "r.spl?" "p.?" "" "0000338880" "00017092" "90" "1026" "2" "1026" "2" "c.1026+2T>A" "r.spl?" "p.?" "" "0000341598" "00017092" "30" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000341835" "00017092" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Ter)" "" "0000341840" "00017092" "70" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "" "0000341841" "00017092" "90" "388" "0" "388" "0" "c.388C>G" "r.(?)" "p.(Arg130Gly)" "" "0000342008" "00017092" "90" "45" "0" "45" "0" "c.45A>T" "r.(?)" "p.(Arg15Ser)" "" "0000342009" "00017092" "90" "45" "0" "45" "0" "c.45A>C" "r.(?)" "p.(Arg15Ser)" "" "0000342079" "00017092" "90" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "" "0000342080" "00017092" "90" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173His)" "" "0000342338" "00017092" "90" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Ter)" "" "0000342660" "00017092" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Ter)" "" "0000343774" "00017092" "90" "144" "0" "144" "0" "c.144C>A" "r.(?)" "p.(Asn48Lys)" "" "0000344016" "00017092" "90" "70" "0" "70" "0" "c.70G>T" "r.(?)" "p.(Asp24Tyr)" "" "0000344263" "00017092" "90" "408" "0" "408" "0" "c.408T>A" "r.(?)" "p.(Cys136Ter)" "" "0000344265" "00017092" "90" "406" "0" "406" "0" "c.406T>C" "r.(?)" "p.(Cys136Arg)" "" "0000344309" "00017092" "90" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Cys211Ter)" "" "0000344452" "00017092" "70" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Cys71Tyr)" "" "0000344600" "00017092" "90" "511" "0" "511" "0" "c.511C>G" "r.(?)" "p.(Gln171Glu)" "" "0000345019" "00017092" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97Ter)" "" "0000345333" "00017092" "30" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Glu288Gly)" "" "0000345346" "00017092" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Glu307Ter)" "" "0000345415" "00017092" "90" "127" "0" "127" "0" "c.127G>T" "r.(?)" "p.(Glu43Ter)" "" "0000345698" "00017092" "90" "395" "0" "395" "0" "c.395G>T" "r.(?)" "p.(Gly132Val)" "" "0000345777" "00017092" "70" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "" "0000346081" "00017092" "10" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Gly44=)" "" "0000346366" "00017092" "90" "368" "0" "368" "0" "c.368A>T" "r.(?)" "p.(His123Leu)" "" "0000346560" "00017092" "90" "365" "0" "365" "0" "c.365T>C" "r.(?)" "p.(Ile122Thr)" "" "0000347395" "00017092" "90" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Lys128Glu)" "" "0000347410" "00017092" "90" "37" "0" "37" "0" "c.37A>G" "r.(?)" "p.(Lys13Glu)" "" "0000347411" "00017092" "50" "38" "0" "38" "0" "c.38A>T" "r.(?)" "p.(Lys13Ile)" "" "0000347486" "00017092" "90" "709" "0" "709" "0" "c.709A>T" "r.(?)" "p.(Lys237Ter)" "" "0000347679" "00017092" "90" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Met35Val)" "" "0000347960" "00017092" "50" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Phe154Cys)" "" "0000347999" "00017092" "90" "722" "0" "722" "0" "c.722T>C" "r.(?)" "p.(Phe241Ser)" "" "0000348624" "00017092" "90" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "" "0000348774" "00017092" "90" "510" "0" "510" "0" "c.510T>G" "r.(?)" "p.(Ser170Arg)" "" "0000348775" "00017092" "90" "508" "0" "508" "0" "c.508A>T" "r.(?)" "p.(Ser170Cys)" "" "0000349755" "00017092" "90" "820" "0" "820" "0" "c.820T>G" "r.(?)" "p.(Trp274Gly)" "" "0000349930" "00017092" "90" "463" "0" "463" "0" "c.463T>C" "r.(?)" "p.(Tyr155His)" "" "0000349959" "00017092" "90" "540" "0" "540" "0" "c.540C>A" "r.(?)" "p.(Tyr180Ter)" "" "0000350048" "00017092" "90" "1008" "0" "1008" "0" "c.1008C>G" "r.(?)" "p.(Tyr336Ter)" "" "0000350110" "00017092" "90" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" "" "0000350111" "00017092" "90" "138" "0" "138" "0" "c.138C>G" "r.(?)" "p.(Tyr46Ter)" "" "0000350171" "00017092" "90" "204" "0" "204" "0" "c.204C>G" "r.(?)" "p.(Tyr68Ter)" "" "0000350172" "00017092" "90" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Tyr68His)" "" "0000350454" "00017092" "30" "869" "0" "869" "0" "c.869T>G" "r.(?)" "p.(Val290Gly)" "" "0000350706" "00017092" "50" "26" "0" "26" "0" "c.26T>A" "r.(?)" "p.(Val9Asp)" "" "0000351421" "00017092" "90" "253" "1" "253" "1" "c.253+1G>T" "r.spl?" "p.?" "" "0000351422" "00017092" "90" "253" "1" "253" "1" "c.253+1G>A" "r.spl?" "p.?" "" "0000351424" "00017092" "90" "634" "1" "634" "1" "c.634+1G>C" "r.spl?" "p.?" "" "0000351425" "00017092" "90" "634" "1" "634" "1" "c.634+1G>A" "r.spl?" "p.?" "" "0000351426" "00017092" "90" "1026" "1" "1026" "1" "c.1026+1G>T" "r.spl?" "p.?" "" "0000351427" "00017092" "90" "1027" "-2" "1027" "-2" "c.1027-2A>G" "r.spl?" "p.?" "" "0000351723" "00017092" "90" "49" "0" "49" "0" "c.49C>G" "-" "p.Gln17Glu" "1" "0000352569" "00017092" "90" "35" "0" "35" "0" "c.35A>T" "r.(?)" "p.Asn12Ile" "1" "0000352570" "00017092" "10" "35" "0" "35" "0" "c.35A>C" "r.(?)" "p.Asn12Thr" "1" "0000352571" "00017092" "90" "37" "0" "37" "0" "c.37A>G" "r.(?)" "p.Lys13Glu" "1" "0000352572" "00017092" "90" "40" "0" "40" "0" "c.40A>G" "r.(?)" "p.Arg14Gly" "1" "0000352573" "00017092" "90" "45" "0" "45" "0" "c.45A>T" "r.(?)" "p.Arg15Ser" "1" "0000352574" "00017092" "10" "46" "0" "46" "0" "c.46T>C" "r.(?)" "p.Tyr16His" "1" "0000352575" "00017092" "90" "66" "0" "66" "0" "c.66C>G" "r.(?)" "p.Asp22Glu" "1" "0000352576" "00017092" "90" "65" "0" "65" "0" "c.65A>G" "r.(?)" 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"p.Ile32Asn" "2" "0000352590" "00017092" "50" "55" "0" "55" "0" "c.55G>T" "r.(?)" 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"3i" "0000352850" "00017092" "50" "210" "-1" "210" "-1" "c.210-1G>A" "r.spl" "p.?" "3i" "0000352851" "00017092" "50" "209" "0" "209" "0" "c.209T>C" "r.(?)" "p.(Leu70Pro)" "3" "0000352852" "00017092" "50" "209" "5" "209" "5" "c.209+5G>A" "r.spl?" "p.?" "3i" "0000352853" "00017092" "50" "209" "2" "209" "2" "c.209+2T>C" "r.spl" "p.?" "3i" "0000352854" "00017092" "50" "209" "1" "209" "1" "c.209+1G>T" "r.spl" "p.?" "3i" "0000352855" "00017092" "50" "208" "0" "208" "0" "c.208C>G" "r.(?)" "p.(Leu70Val)" "3" "0000352856" "00017092" "50" "204" "0" "204" "0" "c.204C>A" "r.(?)" "p.(Tyr68*)" "3" "0000352857" "00017092" "50" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Tyr68Cys)" "3" "0000352858" "00017092" "50" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Tyr68His)" "3" "0000352859" "00017092" "50" "202" "0" "202" "0" "c.202T>A" "r.(?)" "p.(Tyr68Asn)" "3" "0000352860" "00017092" "50" "195" "0" "196" "0" "c.195_196insT" "r.(?)" "p.(Lys66*)" "3" "0000352861" "00017092" "50" "187" "0" "188" "0" "c.187_188dup" "r.(?)" "p.(Asn63Lysfs*37)" "3" "0000352862" "00017092" "50" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(His61Arg)" "3" "0000352863" "00017092" "50" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(His61Tyr)" "3" "0000352864" "00017092" "50" "21" "0" "22" "0" "c.21_22del" "r.(?)" "p.(Glu7Aspfs*3)" "1" "0000352865" "00017092" "50" "165" "-2" "165" "-2" "c.165-2A>G" "r.spl" "p.?" "2i" "0000352866" "00017092" "50" "165" "-1" "492" "1" "c.(164+1_165-1)_(492+1_493-1)del" "r.(?)" "p.(Phe56Glufs*2)" "2i_5i" "0000352867" "00017092" "50" "164" "1" "164" "1" "c.164+1G>T" "r.spl" "p.?" "2i" "0000352868" "00017092" "50" "164" "1" "165" "-1" "c.(164+1_165-1)del" "r.?" "p.?" "2i" "0000352869" "00017092" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Ile)" "2" "0000352870" "00017092" "50" "150" "0" "150" "0" "c.150del" "r.(?)" "p.(Ile50Metfs*4)" "2" "0000352871" "00017092" "50" "144" "0" "144" "0" "c.144C>A" "r.(?)" "p.(Asn48Lys)" "2" "0000352872" "00017092" "50" "141" "0" "141" "0" "c.141del" "r.(?)" "p.(Asn48Thrfs*6)" "2" "0000352873" "00017092" "50" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(=)" "2" "0000352874" "00017092" "50" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Glu43Lys)" "2" "0000352875" "00017092" "50" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Ala39Thr)" "2" "0000352876" "00017092" "50" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(=)" "9" "0000352877" "00017092" "50" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Gly36Arg)" "2" "0000352878" "00017092" "50" "1066" "0" "1066" "0" "c.1066A>G" "r.(?)" "p.(Asn356Asp)" "9" "0000352879" "00017092" "50" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "9" "0000352880" "00017092" "50" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Met35Val)" "2" "0000352881" "00017092" "50" "1033" "0" "1033" "0" "c.1033C>G" "r.(?)" "p.(Leu345Val)" "9" "0000352882" "00017092" "50" "1027" "-2" "1027" "-2" "c.1027-2A>C" "r.spl" "p.?" "8i" "0000352883" "00017092" "50" "1026" "1" "1026" "1" "c.1026+1G>C" "r.spl" "p.?" "8i" "0000352884" "00017092" "50" "1026" "1" "1026" "1" "c.1026+1G>A" "r.spl" "p.?" "8i" "0000352885" "00017092" "50" "1019" "0" "1019" "0" "c.1019del" "r.(?)" "p.(Asn340Ilefs*4)" "8" "0000352886" "00017092" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000352887" "00017092" "50" "-1" "0" "79" "1" "c.(?_-1)_(79+1_80-1)del" "r.?" "p.?" "_1_1i" "0000352888" "00017092" "50" "-1" "0" "164" "1" "c.(?_-1)_(164+1_165-1)del" "r.?" "p.?" "_1_2i" "0000352889" "00017092" "50" "-1" "0" "1213" "0" "c.(?_-1)_(*1_?)del" "r.?" "p.?" "_1_9_" "0000352890" "00017092" "50" "-9" "0" "-9" "0" "c.-9C>G" "r.(=)" "p.(=)" "1" "0000352891" "00017092" "50" "-1" "0" "79" "1" "c.(?_-1)_(79+1_80-1)dup" "r.?" "p.?" "_1_1i" "0000352892" "00017092" "50" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(His141Arg)" "5" "0000352893" "00017092" "50" "420" "0" "420" "0" "c.420dup" "r.(?)" "p.(His141Thrfs*39)" "5" "0000352894" "00017092" "50" "417" "0" "417" "0" "c.417A>C" "r.(?)" "p.(Leu139Phe)" "5" "0000352895" "00017092" "50" "416" "0" "416" "0" "c.416T>G" "r.(?)" "p.(Leu139*)" "5" "0000352896" "00017092" "50" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Cys136Tyr)" "5" "0000352897" "00017092" "50" "407" "0" "423" "0" "c.407_423del" "r.(?)" "p.(Cys136Serfs*38)" "5" "0000352898" "00017092" "50" "406" "0" "406" "0" "c.406T>C" "r.(?)" "p.(Cys136Arg)" "5" "0000352899" "00017092" "50" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Met134Thr)" "5" "0000352900" "00017092" "50" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.0?" "1" "0000352901" "00017092" "50" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "5" "0000352902" "00017092" "50" "39" "0" "41" "0" "c.39_41del" "r.(?)" "p.(Arg15del)" "1" "0000352903" "00017092" "50" "389" "0" "389" "0" "c.389G>T" "r.(?)" "p.(Arg130Leu)" "5" "0000352904" "00017092" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "5" "0000352905" "00017092" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130*)" "5" "0000352906" "00017092" "50" "388" "0" "388" "0" "c.388C>G" "r.(?)" "p.(Arg130Gly)" "5" "0000352907" "00017092" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "5" "0000352908" "00017092" "50" "384" "0" "384" "0" "c.384G>C" "r.(?)" "p.(Lys128Asn)" "5" "0000352909" "00017092" "50" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Lys128Glu)" "5" "0000352910" "00017092" "50" "376" "0" "376" "0" "c.376G>C" "r.(?)" "p.(Ala126Pro)" "5" "0000352911" "00017092" "50" "370" "0" "370" "0" "c.370T>C" "r.(?)" "p.(Cys124Arg)" "5" "0000352912" "00017092" "50" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Ile122Ser)" "5" "0000352913" "00017092" "50" "35" "0" "35" "0" "c.35A>T" "r.(?)" "p.(Asn12Ile)" "1" "0000352914" "00017092" "50" "359" "0" "359" "0" "c.359C>A" "r.(?)" "p.(Ala120Glu)" "5" "0000352915" "00017092" "50" "350" "0" "350" "0" "c.350dup" "r.(?)" "p.(Asn117Lysfs*9)" "5" "0000352916" "00017092" "50" "334" "0" "335" "0" "c.334_335insG" "r.(?)" "p.(Leu112Argfs*3)" "5" "0000352917" "00017092" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Gln110*)" "5" "0000352918" "00017092" "50" "324" "0" "324" "0" "c.324del" "r.(?)" "p.(Asp109Thrfs*4)" "5" "0000352919" "00017092" "50" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "5" "0000352920" "00017092" "50" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Ile101Thr)" "5" "0000352921" "00017092" "50" "302" "0" "302" "0" "c.302del" "r.(?)" "p.(Ile101Thrfs*12)" "5" "0000352922" "00017092" "50" "287" "0" "287" "0" "c.287C>G" "r.(?)" "p.(Pro96Arg)" "5" "0000352923" "00017092" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "5" "0000352924" "00017092" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(His93Tyr)" "5" "0000352925" "00017092" "50" "275" "0" "275" "0" "c.275A>C" "r.(?)" "p.(Asp92Ala)" "5" "0000352926" "00017092" "50" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Ser10Alafs*14)" "1" "0000352927" "00017092" "50" "264" "0" "264" "0" "c.264T>A" "r.(?)" "p.(Tyr88*)" "5" "0000352928" "00017092" "50" "263" "0" "263" "0" "c.263A>G" "r.(?)" "p.(Tyr88Cys)" "5" "0000352929" "00017092" "50" "253" "1" "253" "1" "c.253+1G>C" "r.spl" "p.?" "4i" "0000352930" "00017092" "50" "253" "1" "253" "1" "c.253+1G>A" "r.spl" "p.?" "4i" "0000352931" "00017092" "50" "238" "0" "238" "0" "c.238A>T" "r.(?)" "p.(Lys80*)" "4" "0000352932" "00017092" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "4" "0000352933" "00017092" "50" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(=)" "4" "0000352934" "00017092" "50" "210" "-7" "210" "-3" "c.210-7_210-3del" "r.spl?" "p.?" "3i" "0000352935" "00017092" "50" "686" "0" "686" "0" "c.686C>G" "r.(?)" "p.(Ser229*)" "7" "0000352936" "00017092" "50" "67" "0" "67" "0" "c.67T>G" "r.(?)" "p.(Leu23Val)" "1" "0000352937" "00017092" "50" "658" "0" "658" "0" "c.658C>G" "r.(?)" "p.(Leu220Val)" "7" "0000352938" "00017092" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Gln219*)" "7" "0000352939" "00017092" "50" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Gln214*)" "7" "0000352940" "00017092" "50" "635" "-1" "635" "-1" "c.635-1G>C" "r.spl" "p.?" "6i" "0000352941" "00017092" "50" "635" "-1" "801" "1" "c.(634+1_635-1)_(801+1_802-1)del" "r.?" "p.(Asn212Argfs*30)" "6i_7i" "0000352942" "00017092" "50" "634" "4" "634" "4" "c.634+4A>T" "r.spl?" "p.?" "6i" "0000352943" "00017092" "50" "634" "2" "634" "2" "c.634+2T>C" "r.spl" "p.?" "6i" "0000352944" "00017092" "50" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Cys211*)" "6" "0000352945" "00017092" "50" "613" "0" "613" "0" "c.613A>G" "r.(?)" "p.(Met205Val)" "6" "0000352946" "00017092" "50" "609" "0" "611" "0" "c.609_611delinsATAAAT" "r.(?)" "p.(Pro204*)" "6" "0000352947" "00017092" "50" "593" "0" "602" "0" "c.593_602del" "r.(?)" "p.(Met198Lysfs*20)" "6" "0000352948" "00017092" "50" "586" "0" "587" "0" "c.586_587insT" "r.(?)" "p.(His196Leufs*6)" "6" "0000352949" "00017092" "50" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(=)" "6" "0000352950" "00017092" "50" "562" "0" "562" "0" "c.562T>C" "r.(?)" "p.(Tyr188His)" "6" "0000352951" "00017092" "50" "547" "0" "549" "0" "c.547_549delinsT" "r.(?)" "p.(Lys183*)" "6" "0000352952" "00017092" "50" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Leu181Pro)" "6" "0000352953" "00017092" "50" "542" "0" "542" "0" "c.542del" "r.(?)" "p.(Leu181Argfs*2)" "6" "0000352954" "00017092" "50" "528" "0" "534" "0" "c.528_534delinsA" "r.(?)" "p.(Tyr176*)" "6" "0000352955" "00017092" "50" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "6" "0000352956" "00017092" "50" "512" "0" "515" "0" "c.512_515del" "r.(?)" "p.(Gln171Argfs*11)" "6" "0000352957" "00017092" "50" "512" "0" "512" "0" "c.512dup" "r.(?)" "p.(Arg172Glufs*8)" "6" "0000352958" "00017092" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Gln171*)" "6" "0000352959" "00017092" "50" "509" "0" "509" "0" "c.509G>T" "r.(?)" "p.(Ser170Ile)" "6" "0000352960" "00017092" "50" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Gln17*)" "1" "0000352961" "00017092" "50" "49" "0" "49" "0" "c.49C>G" "r.(?)" "p.(Gln17Glu)" "1" "0000352962" "00017092" "50" "493" "0" "493" "0" "c.493G>C" "r.spl?" "p.(Gly165Arg)" "6" "0000352963" "00017092" "50" "493" "-1" "634" "1" "c.(492+1_493-1)_(634+1_635-1)dup" "r.(?)" "p.?" "5i" "0000352964" "00017092" "50" "493" "-1" "634" "1" "c.(492+1_493-1)_(634+1_635-1)del" "r.(?)" "p.(Gly165Ilefs*9)" "5i" "0000352965" "00017092" "50" "491" "0" "491" "0" "c.491del" "r.(?)" "p.(Lys164Argfs*3)" "5" "0000352966" "00017092" "50" "486" "0" "486" "0" "c.486C>G" "r.(?)" "p.(Asp162Glu)" "5" "0000352967" "00017092" "50" "486" "0" "487" "0" "c.486_487del" "r.(?)" "p.(Asp162Glufs*17)" "5" "0000352968" "00017092" "50" "48" "0" "49" "0" "c.48_49insA" "r.(?)" "p.(Gln17Thrfs*27)" "1" "0000352969" "00017092" "50" "476" "0" "476" "0" "c.476G>C" "r.(?)" "p.(Arg159Thr)" "5" "0000352970" "00017092" "50" "470" "0" "471" "0" "c.470_471insG" "r.(?)" "p.(Val158Serfs*22)" "5" "0000352971" "00017092" "50" "46" "0" "46" "0" "c.46T>C" "r.(?)" "p.(Tyr16His)" "1" "0000352972" "00017092" "50" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Tyr155Cys)" "5" "0000352973" "00017092" "50" "461" "0" "461" "0" "c.461del" "r.(?)" "p.(Phe154Serfs*5)" "5" "0000352974" "00017092" "50" "45" "0" "48" "0" "c.45_48delins(20)" "r.(?)" "p.(Arg15fs)" "1" "0000352975" "00017092" "50" "448" "0" "448" "0" "c.448G>T" "r.(?)" "p.(Glu150*)" "5" "0000352976" "00017092" "50" "441" "0" "442" "0" "c.441_442delinsA" "r.(?)" "p.(Ala148Hisfs*5)" "5" "0000352977" "00017092" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "5" "0000352978" "00017092" "50" "-1026" "0" "-1026" "0" "c.-1026C>A" "r.(=)" "p.(=)" "1" "0000352979" "00017092" "50" "987" "0" "990" "0" "c.987_990del" "r.(?)" "p.(Asn329Lysfs*14)" "8" "0000352980" "00017092" "50" "968" "0" "968" "0" "c.968del" "r.(?)" "p.(Asn323Metfs*21)" "8" "0000352981" "00017092" "50" "966" "0" "967" "0" "c.966_967delinsG" "r.(?)" "p.(Asn323Metfs*21)" "8" "0000352982" "00017092" "50" "987" "0" "990" "0" "c.987_990del" "r.(?)" "p.(Asn329Lysfs*14)" "8" "0000352983" "00017092" "50" "956" "0" "959" "0" "c.956_959del" "r.(?)" "p.(Thr319Lysfs*24)" "8" "0000352984" "00017092" "50" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Glu307*)" "8" "0000352985" "00017092" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298*)" "8" "0000352986" "00017092" "50" "886" "0" "886" "0" "c.886del" "r.(?)" "p.(Cys296Valfs*11)" "8" "0000352987" "00017092" "50" "885" "0" "886" "0" "c.885_886dup" "r.(?)" "p.(Cys296Tyrfs*12)" "8" "0000352988" "00017092" "50" "884" "0" "884" "0" "c.884del" "r.(?)" "p.(Leu295Hisfs*12)" "8" "0000352989" "00017092" "50" "884" "0" "884" "0" "c.884dup" "r.(?)" "p.(Cys296Metfs*2)" "8" "0000352990" "00017092" "50" "870" "0" "870" "0" "c.870del" "r.(?)" "p.(Glu291Lysfs*16)" "8" "0000352991" "00017092" "50" "868" "0" "874" "0" "c.868_874del" "r.(?)" "p.(Val290Metfs*15)" "8" "0000352992" "00017092" "50" "814" "0" "814" "0" "c.814del" "r.(?)" "p.(His272Thrfs*4)" "8" "0000352993" "00017092" "50" "802" "-2" "802" "-2" "c.802-2A>T" "r.spl" "p.?" "7i" "0000352994" "00017092" "50" "802" "-1" "1026" "1" "c.(801+1_802-1)_(1026+1_1027-1)del" "r.?" "p.(Asp268_Lys342del)" "7i_8i" "0000352995" "00017092" "50" "800" "0" "800" "0" "c.800dup" "r.(?)" "p.(Asp268Glyfs*30)" "7" "0000352996" "00017092" "50" "800" "0" "800" "0" "c.800del" "r.(?)" "p.(Lys267Argfs*9)" "7" "0000352997" "00017092" "50" "80" "-3" "80" "-3" "c.80-3C>G" "r.spl" "p.?" "1" "0000352998" "00017092" "50" "80" "-1" "164" "1" "c.(79+1_80-1)_(164+1_165-1)del" "r.?" "p.(Tyr27Cysfs*44)" "1i_2i" "0000352999" "00017092" "50" "80" "-1" "1213" "0" "c.(79+1_80-1)_(*1_?)del" "r.?" "p.?" "1i_9_" "0000353000" "00017092" "50" "79" "7" "79" "7" "c.79+7A>G" "r.(?)" "p.(=)" "1" "0000353001" "00017092" "50" "76" "0" "76" "0" "c.76A>C" "r.(?)" "p.(Thr26Pro)" "1" "0000353002" "00017092" "50" "761" "0" "761" "0" "c.761A>C" "r.(?)" "p.(Lys254Thr)" "7" "0000353003" "00017092" "50" "75" "0" "75" "0" "c.75G>T" "r.(?)" "p.(Leu25Phe)" "1" "0000353004" "00017092" "50" "755" "0" "755" "0" "c.755A>T" "r.(?)" "p.(Asp252Val)" "7" "0000353005" "00017092" "50" "751" "0" "752" "0" "c.751_752del" "r.(?)" "p.(Gly251*)" "7" "0000353006" "00017092" "50" "750" "0" "751" "0" "c.750_751del" "r.(?)" "p.(Cys250Trpfs*2)" "7" "0000353007" "00017092" "50" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Pro246Leu)" "7" "0000353008" "00017092" "50" "734" "0" "737" "0" "c.734_737del" "r.(?)" "p.(Gln245Argfs*10)" "7" "0000353009" "00017092" "50" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Tyr240*)" "7" "0000353010" "00017092" "50" "72" "0" "73" "0" "c.72_73insAGA" "r.(?)" "p.(Asp24_Leu25insArg)" "1" "0000353011" "00017092" "50" "71" "0" "71" "0" "c.71A>G" "r.(?)" "p.(Asp24Gly)" "1" "0000353012" "00017092" "50" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Met239Thr)" "7" "0000353013" "00017092" "50" "70" "0" "70" "0" "c.70G>C" "r.(?)" "p.(Asp24His)" "1" "0000353014" "00017092" "50" "69" "0" "69" "0" "c.69A>C" "r.(?)" "p.(Leu23Phe)" "1" "0000353015" "00017092" "50" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233*)" "7" "0000353016" "00017092" "50" "696" "0" "696" "0" "c.696dup" "r.(?)" "p.(Arg233Thrfs*10)" "7" "0000353741" "00017092" "50" "405" "0" "405" "0" "c.405A>T" "r.(405a>u)" "p.(Ile135=)" "5" "0000353742" "00017092" "50" "407" "0" "407" "0" "c.407G>A" "r.(407g>a)" "p.(Cys136Tyr)" "5" "0000369609" "00017092" "90" "176" "0" "176" "0" "c.176C>A" "r.(?)" "p.(Ser59*)" "3" "0000379127" "00017092" "90" "737" "0" "737" "0" "c.737C>T" "r.(737c>u)" "p.(Pro246Leu)" "" "0000395158" "00017092" "90" "392" "0" "392" "0" "c.392dup" "r.(?)" "p.(Gly132Trpfs*48)" "" "0000401592" "00017092" "90" "20" "0" "20" "0" "c.20del" "r.(?)" "p.(Glu7Glyfs*17)" "1" "0000401593" "00017092" "50" "22" "0" "22" "0" "c.22A>G" "r.(?)" "p.(Ile8Val)" "1" "0000401594" "00017092" "50" "60" "0" "60" "0" "c.60A>T" "r.(?)" "p.(=)" "1" "0000401595" "00017092" "50" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(=)" "1" "0000401596" "00017092" "50" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(=)" "1" "0000401597" "00017092" "10" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(=)" "2" "0000401598" "00017092" "10" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(=)" "2" "0000401599" "00017092" "50" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Leu)" "2" "0000401600" "00017092" "90" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Tyr68Cys)" "3" "0000401601" "00017092" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(=)" "4" "0000401602" "00017092" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(=)" "4" "0000401603" "00017092" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "4" "0000401604" "00017092" "50" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Ile122Val)" "5" "0000401605" "00017092" "90" "371" "0" "371" "0" "c.371G>C" "r.(?)" "p.(Cys124Ser)" "5" "0000401606" "00017092" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130*)" "5" "0000401607" "00017092" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Tyr155Cys)" "5" "0000401608" "00017092" "90" "493" "-2" "493" "-2" "c.493-2A>G" "r.spl" "p.?" "5i" "0000401609" "00017092" "90" "493" "-1" "493" "-1" "c.493-1G>C" "r.spl" "p.?" "5i" "0000401610" "00017092" "50" "523" "0" "523" "0" "c.523G>T" "r.(?)" "p.(Val175Leu)" "6" "0000401611" "00017092" "50" "613" "0" "613" "0" "c.613A>G" "r.(?)" "p.(Met205Val)" "6" "0000401612" "00017092" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Gly209Arg)" "6" "0000401613" "00017092" "50" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Asp236His)" "7" "0000401614" "00017092" "10" "723" "0" "723" "0" "c.723T>C" "r.(?)" "p.(=)" "7" "0000401615" "00017092" "10" "723" "0" "723" "0" "c.723T>C" "r.(?)" "p.(=)" "7" "0000401616" "00017092" "10" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(=)" "7" "0000401617" "00017092" "90" "750" "0" "750" "0" "c.750T>A" "r.(?)" "p.(Cys250*)" "7" "0000401618" "00017092" "90" "830" "0" "830" "0" "c.830del" "r.(?)" "p.(Thr277Asnfs*14)" "8" "0000401619" "00017092" "50" "849" "0" "849" "0" "c.849A>G" "r.(?)" "p.(=)" "8" "0000401620" "00017092" "50" "859" "0" "859" "0" "c.859T>C" "r.(?)" "p.(Ser287Pro)" "8" "0000401621" "00017092" "50" "859" "0" "859" "0" "c.859T>C" "r.(?)" "p.(Ser287Pro)" "8" "0000401622" "00017092" "50" "920" "0" "920" "0" "c.920A>G" "r.(?)" "p.(Glu307Gly)" "8" "0000401623" "00017092" "50" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Glu314Lys)" "8" "0000401624" "00017092" "50" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(=)" "8" "0000401625" "00017092" "50" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(=)" "8" "0000401626" "00017092" "90" "955" "0" "955" "0" "c.955dup" "r.(?)" "p.(Thr319Asnfs*6)" "8" "0000401627" "00017092" "50" "972" "0" "972" "0" "c.972T>C" "r.(?)" "p.(=)" "8" "0000401628" "00017092" "90" "1003" "0" "1003" "0" "c.1003del" "r.(?)" "p.(Arg335Aspfs*9)" "8" "0000401629" "00017092" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000401630" "00017092" "50" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(=)" "9" "0000401631" "00017092" "50" "1113" "0" "1113" "0" "c.1113C>G" "r.(?)" "p.(Asp371Glu)" "9" "0000401632" "00017092" "50" "1186" "0" "1186" "0" "c.1186C>G" "r.(?)" "p.(Gln396Glu)" "9" "0000404874" "00017092" "90" "748" "0" "751" "0" "c.748_751dup" "r.(?)" "p.(Gly251Valfs*3)" "" "0000405594" "00017092" "90" "76" "0" "76" "0" "c.76A>C" "r.(?)" "p.Thr26Pro" "1" "0000406552" "00017092" "50" "17" "0" "17" "0" "c.17A>G" "r.(?)" "p.(Lys6Arg)" "" "0000406553" "00017092" "50" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(=)" "" "0000406554" "00017092" "50" "85" "0" "85" "0" "c.85T>C" "r.(?)" "p.(Tyr29His)" "" "0000406555" "00017092" "10" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(=)" "" "0000406556" "00017092" "50" "165" "0" "165" "0" "c.165G>T" "r.(?)" "p.(Arg55Ser)" "" "0000406557" "00017092" "50" "233" "0" "233" "0" "c.233C>G" "r.(?)" "p.(Thr78Ser)" "" "0000406558" "00017092" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(=)" "" "0000406559" "00017092" "90" "254" "-2" "254" "-1" "c.254-2_254-1del" "r.spl" "p.?" "" "0000406560" "00017092" "50" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(=)" "" "0000406561" "00017092" "90" "370" "0" "370" "0" "c.370dup" "r.(?)" "p.(Cys124Leufs*2)" "" "0000406562" "00017092" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Val133Ile)" "" "0000406563" "00017092" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Gly209Arg)" "" "0000406564" "00017092" "90" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Arg234Gln)" "" "0000406565" "00017092" "10" "723" "0" "723" "0" "c.723T>C" "r.(?)" "p.(=)" "" "0000406566" "00017092" "10" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(=)" "" "0000406567" "00017092" "50" "859" "0" "859" "0" "c.859T>C" "r.(?)" "p.(Ser287Pro)" "" "0000406568" "00017092" "10" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(=)" "" "0000406569" "00017092" "50" "920" "0" "920" "0" "c.920A>G" "r.(?)" "p.(Glu307Gly)" "" "0000406570" "00017092" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308His)" "" "0000406571" "00017092" "50" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000406572" "00017092" "50" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(=)" "" "0000406573" "00017092" "50" "1051" "0" "1051" "0" "c.1051G>A" "r.(?)" "p.(Val351Ile)" "" "0000408016" "00017092" "70" "512" "0" "513" "0" "c.512_513insACA" "r.(?)" "p.(Gln171dup)" "6" "0000408629" "00017092" "70" "140" "0" "164" "2" "c.140_164+2dup" "r.spl?" "p.?" "" "0000408630" "00017092" "70" "1126" "0" "1127" "0" "c.1126_1127insTAATT" "r.(?)" "p.(His376Leufs*42)" "" "0000408631" "00017092" "50" "802" "-34" "802" "-34" "c.802-34C>A" "r.(?)" "p.(=)" "" "0000408632" "00017092" "90" "17" "0" "20" "0" "c.17_20del" "r.(?)" "p.(Lys6Argfs*17)" "" "0000408633" "00017092" "90" "740" "0" "741" "0" "c.740_741del" "r.(?)" "p.(Leu247Serfs*5)" "" "0000408634" "00017092" "70" "7484" "0" "7484" "0" "c.7484G>C" "r.(?)" "p.(Asp162His)" "" "0000408635" "00017092" "70" "634" "3" "634" "3" "c.634+3A>C" "r.spl?" "p.?" "" "0000408636" "00017092" "90" "634" "5" "634" "5" "c.634+5G>A" "r.spl?" "p.?" "" "0000408637" "00017092" "70" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.Pro246Leu" "" "0000408638" "00017092" "70" "395" "0" "395" "0" "c.395G>T" "r.(?)" "p.Gly132Val" "" "0000408639" "00017092" "90" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.Arg130Gln" "" "0000408640" "00017092" "90" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.Arg130Gln" "" "0000409896" "00017092" "50" "-1238" "0" "-1238" "0" "c.-1238A>G" "r.(=)" "p.(=)" "_1" "0000409897" "00017092" "50" "-1110" "0" "-1110" "0" "c.-1110A>G" "r.(=)" "p.(=)" "_1" "0000409898" "00017092" "50" "-1088" "0" "-1088" "0" "c.-1088C>T" "r.(=)" "p.(=)" "_1" "0000409899" "00017092" "50" "-1084" "0" "-1084" "0" "c.-1084C>T" "r.(?)" "p.(=)" "_1" "0000409900" "00017092" "50" "-1026" "0" "-1026" "0" "c.-1026C>A" "r.(?)" "p.(=)" "_1" "0000409901" "00017092" "50" "-1000" "0" "-1000" "0" "c.-1000T>C" "r.(=)" "p.(=)" "_1" "0000409902" "00017092" "50" "-930" "0" "-930" "0" "c.-930G>A" "r.(?)" "p.(=)" "1" "0000409903" "00017092" "50" "-920" "0" "-920" "0" "c.-920G>T" "r.(?)" "p.(=)" "1" "0000409904" "00017092" "50" "-903" "0" "-903" "0" "c.-903G>A" "r.(?)" "p.(=)" "1" "0000409905" "00017092" "50" "-895" "0" "-895" "0" "c.-895A>C" "r.(?)" "p.(=)" "1" "0000409906" "00017092" "50" "-861" "0" "-861" "0" "c.-861G>T" "r.(?)" "p.(=)" "1" "0000409907" "00017092" "50" "-834" "0" "-834" "0" "c.-834C>T" "r.(?)" "p.(=)" "1" "0000409908" "00017092" "50" "-764" "0" "-764" "0" "c.-764G>A" "r.(?)" "p.(=)" "1" "0000409909" "00017092" "50" "-9" "0" "-9" "0" "c.-9C>G" "r.(?)" "p.(=)" "1" "0000409910" "00017092" "50" "17" "0" "18" "0" "c.17_18del" "r.(?)" "p.(Lys6Argfs*4)" "1" "0000409911" "00017092" "50" "40" "0" "40" "0" "c.40dup" "r.(?)" "p.(Arg14Lysfs*30)" "1" "0000409912" "00017092" "50" "47" "0" "47" "0" "c.47dup" "r.(?)" "p.(Tyr16*)" "1" "0000409913" "00017092" "50" "48" "0" "48" "0" "c.48T>A" "r.(?)" "p.(Tyr16*)" "1" "0000409914" "00017092" "50" "53" "0" "53" "0" "c.53del" "r.(?)" "p.(Glu18Glyfs*6)" "1" "0000409915" "00017092" "50" "66" "0" "66" "0" "c.66C>G" "r.(?)" "p.(Asp22Glu)" "1" "0000409916" "00017092" "50" "68" "0" "68" "0" "c.68T>A" "r.(?)" "p.(Leu23*)" "1" "0000409917" "00017092" "50" "69" "0" "74" "0" "c.69_74del" "r.(?)" "p.(Asp24_Leu25del)" "1" "0000409918" "00017092" "50" "74" "0" "74" "0" "c.74dup" "r.(?)" "p.(Leu25Phefs*19)" "1" "0000409919" "00017092" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "2" "0000409920" "00017092" "50" "97" "0" "99" "0" "c.97_99del" "r.(?)" "p.(Ile33del)" "2" "0000409921" "00017092" "50" "99" "0" "99" "0" "c.99del" "r.(?)" "p.(Ile33Metfs*21)" "2" "0000409922" "00017092" "50" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Ala34Asp)" "2" "0000409923" "00017092" "50" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Met35Val)" "2" "0000409924" "00017092" "50" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Met35Thr)" "2" "0000409925" "00017092" "50" "104" "0" "104" "0" "c.104T>G" "r.(?)" "p.(Met35Arg)" "2" "0000409926" "00017092" "50" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Gly36Arg)" "2" "0000409927" "00017092" "50" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.(Gly36Arg)" "2" "0000409928" "00017092" "50" "111" "0" "111" "0" "c.111T>C" "r.(?)" "p.(=)" "2" "0000409929" "00017092" "50" "115" "0" "115" "0" "c.115G>C" "r.(?)" "p.(Ala39Pro)" "2" "0000409930" "00017092" "50" "141" "0" "141" "0" "c.141del" "r.(?)" "p.(Asn48Thrfs*6)" "2" "0000409931" "00017092" "50" "144" "0" "144" "0" "c.144C>R" "r.(?)" "p.(Asn48Lys)" "2" "0000409932" "00017092" "50" "144" "0" "144" "0" "c.144C>A" "r.(?)" "p.(Asn48Lys)" "2" "0000409933" "00017092" "50" "151" "0" "157" "0" "c.151_157del" "r.(?)" "p.(Asp51*)" "2" "0000409934" "00017092" "50" "155" "0" "157" "0" "c.155_157del" "r.(?)" "p.(Asp52del)" "2" "0000409935" "00017092" "50" "157" "0" "158" "0" "c.157_158insATAC" "r.(?)" "p.(Val53Aspfs*11)" "2" "0000409936" "00017092" "50" "158" "0" "159" "0" "c.158_159del" "r.(?)" "p.(Val53Glyfs*9)" "2" "0000409937" "00017092" "50" "164" "1" "164" "1" "c.164+1G>A" "r.spl" "p.?" "2i" "0000409938" "00017092" "50" "164" "1" "164" "5" "c.164+1_164+5del" "r.spl" "p.?" "2i" "0000409939" "00017092" "50" "165" "-2" "165" "-2" "c.165-2A>G" "r.spl" "p.?" "2i" "0000409940" "00017092" "50" "170" "0" "171" "0" "c.170_171insTTAC" "r.(?)" "p.(Leu57Phefs*7)" "3" "0000409941" "00017092" "50" "175" "0" "175" "0" "c.175T>C" "r.(?)" "p.(Ser59Pro)" "3" "0000409942" "00017092" "50" "176" "0" "176" "0" "c.176C>A" "r.(?)" "p.(Ser59*)" "3" "0000409943" "00017092" "50" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Lys60Serfs*39)" "3" "0000409944" "00017092" "50" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(His61Asn)" "3" "0000409945" "00017092" "50" "186" "0" "187" "0" "c.186_187insCA" "r.(?)" "p.(Asn63Glnfs*37)" "3" "0000409946" "00017092" "50" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Ile67Arg)" "3" "0000409947" "00017092" "50" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Tyr68His)" "3" "0000409948" "00017092" "50" "202" "0" "202" "0" "c.202T>G" "r.(?)" "p.(Tyr68Asp)" "3" "0000409949" "00017092" "50" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Tyr68Cys)" "3" "0000409950" "00017092" "50" "209" "0" "209" "0" "c.209T>C" "r.(?)" "p.(Leu70Pro)" "3" "0000409951" "00017092" "50" "209" "1" "209" "1" "c.209+1G>A" "r.spl" "p.?" "3i" "0000409952" "00017092" "50" "209" "1" "209" "1" "c.209+1G>C" "r.spl" "p.?" "3i" "0000409953" "00017092" "50" "209" "1" "209" "2" "c.209+1_209+2del" "r.spl" "p.?" "3i" "0000409954" "00017092" "50" "209" "4" "209" "7" "c.209+4_209+7del" "r.spl?" "p.?" "3i" "0000409955" "00017092" "50" "209" "5" "209" "5" "c.209+5G>A" "r.spl?" "p.?" "3i" "0000409956" "00017092" "50" "210" "-39" "210" "-39" "c.210-39A>G" "r.(?)" "p.(=)" "4" "0000409957" "00017092" "50" "210" "-9" "210" "-9" "c.210-9T>C" "r.(?)" "p.(=)" "4" "0000409958" "00017092" "50" "210" "-7" "210" "-3" "c.210-7_210-3del" "r.spl?" "p.?" "3i" "0000409959" "00017092" "50" "210" "-7" "210" "-3" "c.210-7_210-3del" "r.spl?" "p.?" "3i" "0000409960" "00017092" "50" "210" "-1" "210" "-1" "c.210-1G>A" "r.spl" "p.?" "3i" "0000409961" "00017092" "50" "219" "0" "222" "0" "c.219_222del" "r.(?)" "p.(Glu73Aspfs*25)" "4" "0000409962" "00017092" "50" "220" "0" "220" "0" "c.220del" "r.(?)" "p.(Arg74Aspfs*25)" "4" "0000409963" "00017092" "50" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Thr78Ala)" "4" "0000409964" "00017092" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "4" "0000409965" "00017092" "50" "238" "0" "238" "0" "c.238A>G" "r.(?)" "p.(Lys80Glu)" "4" "0000409966" "00017092" "50" "242" "0" "242" "0" "c.242T>C" "r.(?)" "p.(Phe81Ser)" "4" "0000409967" "00017092" "50" "245" "0" "245" "0" "c.245A>C" "r.(?)" "p.(Asn82Thr)" "4" "0000409968" "00017092" "50" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Cys83Tyr)" "4" "0000409969" "00017092" "50" "253" "1" "253" "1" "c.253+1G>T" "r.spl" "p.?" "4i" "0000409970" "00017092" "50" "253" "2" "253" "2" "c.253+2T>C" "r.spl" "p.?" "4i" "0000409971" "00017092" "50" "253" "108" "253" "109" "c.253+108_253+109insTCTTA" "r.(?)" "p.(=)" "4" "0000409972" "00017092" "50" "254" "-27" "254" "-27" "c.254-27dup" "r.(?)" "p.(=)" "5" "0000409973" "00017092" "50" "254" "-11" "254" "-11" "c.254-11T>G" "r.(?)" "p.(=)" "5" "0000409974" "00017092" "50" "258" "0" "258" "0" "c.258A>G" "r.(?)" "p.(=)" "5" "0000409975" "00017092" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87*)" "5" "0000409976" "00017092" "50" "262" "0" "262" "0" "c.262T>C" "r.(?)" "p.(Tyr88His)" "5" "0000409977" "00017092" "50" "265" "0" "266" "0" "c.265_266insTT" "r.(?)" "p.(Pro89Leufs*11)" "5" "0000409978" "00017092" "50" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asp92Gly)" "5" "0000409979" "00017092" "50" "276" "0" "276" "0" "c.276C>A" "r.(?)" "p.(Asp92Glu)" "5" "0000409980" "00017092" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(His93Tyr)" "5" "0000409981" "00017092" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Pro96Ser)" "5" "0000409982" "00017092" "50" "287" "0" "287" "0" "c.287C>A" "r.(?)" "p.(Pro96Gln)" "5" "0000409983" "00017092" "50" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97*)" "5" "0000409984" "00017092" "50" "302" "0" "304" "0" "c.302_304delinsCC" "r.(?)" "p.(Ile101Thrfs*12)" "5" "0000409985" "00017092" "50" "303" "0" "304" "0" "c.303_304insT" "r.(?)" "p.(Lys102*)" "5" "0000409986" "00017092" "50" "307" "0" "307" "0" "c.307C>A" "r.(?)" "p.(Pro103Thr)" "5" "0000409987" "00017092" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Cys105Tyr)" "5" "0000409988" "00017092" "50" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "5" "0000409989" "00017092" "50" "324" "0" "324" "0" "c.324del" "r.(?)" "p.(Asp109Thrfs*4)" "5" "0000409990" "00017092" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Gln110*)" "5" "0000409991" "00017092" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Gln110*)" "5" "0000409992" "00017092" "50" "331" "0" "331" "0" "c.331T>A" "r.(?)" 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"p.(Cys124Arg)" "5" "0000410003" "00017092" "50" "374" "0" "375" "0" "c.374_375insTTTA" "r.(?)" "p.(Lys125Asnfs*56)" "5" "0000410004" "00017092" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Gly127Arg)" "5" "0000410005" "00017092" "50" "381" "0" "384" "0" "c.381_384del" "r.(?)" "p.(Lys128Aspfs*5)" "5" "0000410006" "00017092" "50" "384" "0" "384" "0" "c.384C>Y" "r.(?)" "p.(Lys128Asn)" "5" "0000410007" "00017092" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "5" "0000410008" "00017092" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130*)" "5" "0000410009" "00017092" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "5" "0000410010" "00017092" "50" "389" "0" "389" "0" "c.389G>T" "r.(?)" "p.(Arg130Leu)" "5" "0000410011" "00017092" "50" "390" "0" "390" "0" "c.390A>C" "r.(?)" "p.(=)" "5" "0000410012" "00017092" "50" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Thr131Ile)" "5" "0000410013" "00017092" "50" "395" "0" "395" "0" "c.395G>A" "r.(?)" 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"p.(Gly165Val)" "6" "0000410036" "00017092" "50" "499" "0" "505" "0" "c.499_505del" "r.(?)" "p.(Thr167Profs*14)" "6" "0000410037" "00017092" "50" "507" "0" "507" "0" "c.507del" "r.(?)" "p.(Ser170Valfs*13)" "6" "0000410038" "00017092" "50" "508" "0" "508" "0" "c.508A>C" "r.(?)" "p.(Ser170Arg)" "6" "0000410039" "00017092" "50" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Ser170Asn)" "6" "0000410040" "00017092" "50" "510" "0" "510" "0" "c.510T>A" "r.(?)" "p.(Ser170Arg)" "6" "0000410041" "00017092" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Gln171*)" "6" "0000410042" "00017092" "50" "514" "0" "514" "0" "c.514dup" "r.(?)" "p.(Arg172Lysfs*8)" "6" "0000410043" "00017092" "50" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "6" "0000410044" "00017092" "50" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173His)" "6" "0000410045" "00017092" "50" "520" "0" "520" "0" "c.520dup" "r.(?)" "p.(Tyr174Leufs*6)" "6" "0000410046" "00017092" "50" "522" "0" "546" "0" "c.522_546del" "r.(?)" 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"p.(His196Thrfs*3)" "6" "0000410058" "00017092" "50" "589" "0" "589" "0" "c.589A>T" "r.(?)" "p.(Lys197*)" "6" "0000410059" "00017092" "50" "611" "0" "611" "0" "c.611dup" "r.(?)" "p.(Met205Asnfs*38)" "6" "0000410060" "00017092" "50" "623" "0" "623" "0" "c.623G>T" "r.(?)" "p.(Gly208Val)" "6" "0000410061" "00017092" "50" "632" "0" "632" "0" "c.632dup" "r.(?)" "p.(Cys211Trpfs*32)" "6" "0000410062" "00017092" "50" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Cys211*)" "6" "0000410063" "00017092" "50" "634" "2" "634" "2" "c.634+2T>C" "r.spl" "p.?" "6i" "0000410064" "00017092" "50" "634" "5" "634" "5" "c.634+5G>A" "r.spl?" "p.?" "6i" "0000410065" "00017092" "50" "634" "5" "634" "5" "c.634+5G>T" "r.spl?" "p.?" "6i" "0000410066" "00017092" "50" "635" "-1" "635" "-1" "c.635-1G>C" "r.spl" "p.?" "6i" "0000410067" "00017092" "50" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Gln214*)" "7" "0000410068" "00017092" "50" "650" "0" "650" "0" "c.650T>A" "r.(?)" "p.(Val217Asp)" "7" "0000410069" "00017092" "50" "659" "0" "662" "0" "c.659_662dup" "r.(?)" "p.(Lys221Asnfs*23)" "7" "0000410070" "00017092" "50" "672" "0" "672" "0" "c.672A>G" "r.(?)" "p.(Ile224Met)" "7" "0000410071" "00017092" "50" "683" "0" "683" "0" "c.683del" "r.(?)" "p.(Asn228Ilefs*28)" "7" "0000410072" "00017092" "50" "690" "0" "691" "0" "c.690_691del" "r.(?)" "p.(Pro231Hisfs*11)" "7" "0000410073" "00017092" "50" "696" "0" "696" "0" "c.696del" "r.(?)" "p.(Arg233Aspfs*23)" "7" "0000410074" "00017092" "50" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233*)" "7" "0000410075" "00017092" "50" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233*)" "7" "0000410076" "00017092" "50" "700" "0" "700" "0" "c.700C>A" "r.(?)" "p.(=)" "7" "0000410077" "00017092" "50" "719" "0" "720" "0" "c.719_720insT" "r.(?)" "p.(Phe241Leufs*2)" "7" "0000410078" "00017092" "50" "722" "0" "722" "0" "c.722T>C" "r.(?)" "p.(Phe241Ser)" "7" "0000410079" "00017092" "50" "722" "0" "723" "0" "c.722_723dup" "r.(?)" 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"p.(Asp268Glyfs*30)" "7" "0000410091" "00017092" "50" "801" "1" "801" "1" "c.801+1G>A" "r.spl" "p.?" "7i" "0000410092" "00017092" "50" "801" "1" "801" "1" "c.801+1G>T" "r.spl" "p.?" "7i" "0000410093" "00017092" "50" "801" "7" "801" "7" "c.801+7A>G" "r.(?)" "p.(=)" "7" "0000410094" "00017092" "50" "802" "-28" "802" "-28" "c.802-28T>C" "r.(?)" "p.(=)" "8" "0000410095" "00017092" "50" "802" "-3" "802" "-3" "c.802-3dup" "r.spl?" "p.?" "7i" "0000410096" "00017092" "50" "802" "0" "802" "0" "c.802del" "r.(?)" "p.(Asp268Thrfs*8)" "8" "0000410097" "00017092" "50" "859" "0" "859" "0" "c.859T>C" "r.(?)" "p.(Ser287Pro)" "8" "0000410098" "00017092" "50" "862" "0" "862" "0" "c.862G>T" "r.(?)" "p.(Glu288*)" "8" "0000410099" "00017092" "50" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Lys289Glu)" "8" "0000410100" "00017092" "50" "865" "0" "866" "0" "c.865_866insCT" "r.(?)" "p.(Lys289Thrfs*3)" "8" "0000410101" "00017092" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298*)" "8" "0000410102" "00017092" "50" "894" "0" "894" "0" "c.894dup" "r.(?)" "p.(Glu299Argfs*4)" "8" "0000410103" "00017092" "50" "915" "0" "927" "0" "c.915_927del" "r.(?)" "p.(Ser305Argfs*8)" "8" "0000410104" "00017092" "50" "916" "0" "917" "0" "c.916_917insCG" "r.(?)" "p.(Ile306Thrfs*2)" "8" "0000410105" "00017092" "50" "938" "0" "938" "0" "c.938del" "r.(?)" "p.(Lys313Argfs*4)" "8" "0000410106" "00017092" "50" "940" "0" "940" "0" "c.940dup" "r.(?)" "p.(Glu314Glyfs*11)" "8" "0000410107" "00017092" "50" "945" "0" "945" "0" "c.945T>R" "r.(?)" "p.(Tyr315*)" "8" "0000410108" "00017092" "50" "955" "0" "955" "0" "c.955dup" "r.(?)" "p.(Thr319Asnfs*6)" "8" "0000410109" "00017092" "50" "955" "0" "958" "0" "c.955_958del" "r.(?)" "p.(Thr319*)" "8" "0000410110" "00017092" "50" "955" "0" "958" "0" "c.955_958del" "r.(?)" "p.(Thr319*)" "8" "0000410111" "00017092" "50" "959" "0" "959" "0" "c.959T>A" "r.(?)" "p.(Leu320*)" "8" "0000410112" "00017092" "50" "968" "0" "968" "0" "c.968del" "r.(?)" "p.(Asn323Metfs*21)" "8" "0000410113" "00017092" "50" "968" "0" "968" "0" "c.968dup" "r.(?)" "p.(Asn323Lysfs*2)" "8" "0000410114" "00017092" "50" "971" "0" "972" "0" "c.971_972dup" "r.(?)" "p.(Leu325Ilefs*20)" "8" "0000410115" "00017092" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Asp326Asn)" "8" "0000410116" "00017092" "50" "981" "0" "981" "0" "c.981del" "r.(?)" "p.(Ala328Glnfs*16)" "8" "0000410117" "00017092" "50" "987" "0" "990" "0" "c.987_990del" "r.(?)" "p.(Asn329Lysfs*14)" "8" "0000410118" "00017092" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000410119" "00017092" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000410120" "00017092" "50" "1004" "0" "1004" "0" "c.1004G>T" "r.(?)" "p.(Arg335Leu)" "8" "0000410121" "00017092" "50" "1007" "0" "1007" "0" "c.1007dup" "r.(?)" "p.(Tyr336*)" "8" "0000410122" "00017092" "50" "1010" "0" "1010" "0" "c.1010T>C" "r.(?)" "p.(Phe337Ser)" "8" "0000410123" "00017092" "50" "1026" "1" "1026" "1" "c.1026+1G>A" "r.spl" "p.?" "8i" "0000410124" "00017092" "50" "1026" "32" "1026" "32" "c.1026+32T>G" "r.(?)" "p.(=)" "8" "0000410125" "00017092" "50" "1028" "0" "1028" "0" "c.1028T>A" "r.(?)" "p.(Val343Glu)" "9" "0000410126" "00017092" "50" "1033" "0" "1033" "0" "c.1033C>G" "r.(?)" "p.(Leu345Val)" "9" "0000410127" "00017092" "50" "1039" "0" "1039" "0" "c.1039T>C" "r.(?)" "p.(Phe347Leu)" "9" "0000410128" "00017092" "50" "1154" "0" "1155" "0" "c.1154_1155del" "r.(?)" "p.(Ser385*)" "9" "0000410129" "00017092" "50" "1192" "0" "1193" "0" "c.1192_1193insTTAC" "r.(?)" "p.(Thr398Ilefs*25)" "9" "0000410130" "00017092" "10" "1276" "0" "1277" "0" "c.*64_*65insA" "r.(?)" "p.(=)" "9" "0000438845" "00017092" "50" "820" "0" "820" "0" "c.820T>G" "r.(?)" "p.Trp274Gly" "" "0000441265" "00017092" "90" "44" "0" "44" "0" "c.44G>T" "r.(?)" "p.(Arg15Ile)" "" "0000442936" "00017092" "50" "200" "0" "200" "0" "c.200T>C" "r.(?)" "p.(Ile67Thr)" "3" "0000453991" "00017092" "90" "165" "-1" "209" "1" "c.(164+1_165-1)_(209+1_210-1)del" "r.?" "p.?" "2i_3i" "0000454401" "00017092" "59" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_9_" "0000454507" "00017092" "59" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_9_" "0000454536" "00017092" "59" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_9_" "0000454901" "00017092" "90" "-1031" "0" "4515" "0" "c.(?_-1031)_(*3303_?)del" "r.0" "p.0" "_1_9_" "0000454902" "00017092" "90" "253" "1" "253" "1" "c.253+1G>T" "r.spl" "p.?" "4" "0000454903" "00017092" "90" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233*)" "7" "0000487160" "00017092" "90" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" "" "0000500494" "00017092" "90" "424" "0" "424" "0" "c.424del" "r.(?)" "p.(Arg142Glyfs*5)" "" "0000500495" "00017092" "90" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233*)" "" "0000500535" "00017092" "90" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233*)" "" "0000541385" "00017092" "30" "-2279" "0" "-2279" "0" "c.-2279G>C" "r.(?)" "p.(=)" "" "0000541387" "00017092" "30" "-2112" "0" "-2112" "0" "c.-2112C>G" "r.(?)" "p.(=)" "" "0000541388" "00017092" "50" "-2082" "0" "-2082" "0" "c.-2082G>C" "r.(?)" "p.(=)" "" "0000541389" "00017092" "50" "-2031" "0" "-2031" "0" "c.-2031C>T" "r.(?)" "p.(=)" "" "0000541390" "00017092" "50" "-1191" "0" "-1191" "0" "c.-1191G>A" "r.(?)" "p.(=)" "" "0000541391" "00017092" "10" "-1034" "0" "-1030" "0" "c.-1034_-1030dup" "r.(?)" "p.(=)" "" "0000541392" "00017092" "30" "-1026" "0" "-1026" "0" "c.-1026C>A" "r.(?)" "p.(=)" "" "0000541393" "00017092" "30" "-532" "0" "-532" "0" "c.-532G>T" "r.(?)" "p.(=)" "" "0000541394" "00017092" "30" "-531" "0" "-531" "0" "c.-531C>T" "r.(?)" "p.(=)" "" "0000541395" "00017092" "30" "-490" "0" "-485" "0" "c.-490_-485dup" "r.(?)" "p.(=)" "" "0000541396" "00017092" "30" "-487" "0" "-485" "0" "c.-487_-485dup" "r.(?)" "p.(=)" "" "0000541397" "00017092" "30" "-484" "0" "-479" "0" "c.-484_-479dup" "r.(?)" "p.(=)" "" "0000541398" "00017092" "30" "-460" "0" "-460" "0" "c.-460G>A" "r.(?)" "p.(=)" "" "0000541399" "00017092" "30" "-265" "0" "-265" "0" "c.-265G>A" "r.(?)" "p.(=)" "" "0000541400" "00017092" "30" "-165" "0" "-165" "0" "c.-165C>G" "r.(?)" "p.(=)" "" "0000541401" "00017092" "10" "-9" "0" "-9" "0" "c.-9C>G" "r.(?)" "p.(=)" "" "0000541402" "00017092" "50" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Arg14Lys)" "" "0000541403" "00017092" "70" "44" "0" "44" "0" "c.44G>C" "r.(?)" "p.(Arg15Thr)" "" "0000541404" "00017092" "30" "80" "-14" "80" "-14" "c.80-14A>G" "r.(=)" "p.(=)" "" "0000541405" "00017092" "50" "88" "0" "88" "0" "c.88C>A" "r.(?)" "p.(Pro30Thr)" "" "0000541406" "00017092" "30" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Asn31=)" "" "0000541407" "00017092" "90" "133" "0" "133" "0" "c.133del" "r.(?)" "p.(Val45TyrfsTer9)" "" "0000541408" "00017092" "50" "134" "0" "134" "0" "c.134T>A" "r.(?)" "p.(Val45Glu)" "" "0000541409" "00017092" "50" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Arg47Gly)" "" "0000541410" "00017092" "70" "170" "0" "170" "0" "c.170T>C" "r.(?)" "p.(Leu57Ser)" "" "0000541411" "00017092" "90" "176" "0" "176" "0" "c.176C>G" "r.(?)" "p.(Ser59Ter)" "" "0000541413" "00017092" "10" "210" "-7" "210" "-3" "c.210-7_210-3del" "r.spl?" "p.?" "" "0000541414" "00017092" "30" "210" "-7" "210" "-3" "c.210-7_210-3del" "r.spl?" "p.?" "" "0000541415" "00017092" "90" "253" "2" "253" "2" "c.253+2T>A" "r.spl?" "p.?" "" "0000541416" "00017092" "90" "254" "-2" "254" "-2" "c.254-2A>G" "r.spl?" "p.?" "" "0000541417" "00017092" "90" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(His93Arg)" "" "0000541418" "00017092" "50" "331" "0" "331" "0" "c.331T>C" "r.(?)" "p.(Trp111Arg)" "" "0000541419" "00017092" "70" "369" "0" "369" "0" "c.369C>G" "r.(?)" "p.(His123Gln)" "" "0000541420" "00017092" "70" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(Ile135Thr)" "" "0000541421" "00017092" "30" "411" "0" "411" "0" "c.411A>G" "r.(?)" "p.(Ala137=)" "" "0000541422" "00017092" "50" "425" "0" "425" "0" "c.425G>C" "r.(?)" "p.(Arg142Pro)" "" "0000541423" "00017092" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Tyr155Cys)" "" "0000541424" "00017092" "90" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "" "0000541425" "00017092" "50" "598" "0" "598" "0" "c.598T>G" "r.(?)" "p.(Phe200Val)" "" "0000541426" "00017092" "90" "634" "2" "634" "2" "c.634+2T>C" "r.spl?" "p.?" "" "0000541427" "00017092" "90" "635" "-2" "635" "-2" "c.635-2A>G" "r.spl?" "p.?" "" "0000541428" "00017092" "90" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Gln219Ter)" "" "0000541429" "00017092" "70" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Pro246Leu)" "" "0000541430" "00017092" "50" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Lys260Arg)" "" "0000541431" "00017092" "50" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Lys260Arg)" "" "0000541432" "00017092" "50" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.(Asn262Asp)" "" "0000541433" "00017092" "90" "801" "1" "801" "1" "c.801+1G>T" "r.spl?" "p.?" "" "0000541434" "00017092" "30" "802" "-34" "802" "-34" "c.802-34C>A" "r.(=)" "p.(=)" "" "0000541435" "00017092" "30" "802" "-18" "802" "-18" "c.802-18C>T" "r.(=)" "p.(=)" "" "0000541436" "00017092" "10" "802" "-4" "802" "-3" "c.802-4_802-3dup" "r.spl?" "p.?" "" "0000541437" "00017092" "30" "802" "-3" "802" "-3" "c.802-3del" "r.spl?" "p.?" "" "0000541438" "00017092" "10" "802" "-3" "802" "-3" "c.802-3dup" "r.spl?" "p.?" "" "0000541439" "00017092" "30" "802" "-3" "802" "-3" "c.802-3dup" "r.spl?" "p.?" "" "0000541442" "00017092" "50" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Lys289Glu)" "" "0000541443" "00017092" "90" "954" "0" "954" "0" "c.954del" "r.(?)" "p.(Thr319LeufsTer2)" "" "0000541444" "00017092" "70" "959" "0" "959" "0" "c.959T>A" "r.(?)" "p.(Leu320Ter)" "" "0000541445" "00017092" "50" "1003" "0" "1003" "0" "c.1003C>G" "r.(?)" "p.(Arg335Gly)" "" "0000541446" "00017092" "90" "1007" "0" "1007" "0" "c.1007dup" "r.(?)" "p.(Tyr336Ter)" "" "0000541447" "00017092" "50" "1026" "5" "1026" "5" "c.1026+5G>A" "r.spl?" "p.?" "" "0000541448" "00017092" "50" "1060" "0" "1060" "0" "c.1060C>A" "r.(?)" "p.(Pro354Thr)" "" "0000541449" "00017092" "50" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0000541450" "00017092" "30" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0000598475" "00017092" "90" "98" "0" "98" "0" "c.98delinsAA" "r.(?)" "p.(Ile33Lysfs*11)" "" "0000612759" "00017092" "30" "-224" "0" "-224" "0" "c.-224C>T" "r.(?)" "p.(=)" "" "0000612760" "00017092" "30" "79" "7" "79" "7" "c.79+7A>T" "r.(=)" "p.(=)" "" "0000612761" "00017092" "10" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Gly44=)" "" "0000612762" "00017092" "50" "282" "0" "283" "0" "c.282_283insTTA" "r.(?)" "p.(Asn94_Pro95insLeu)" "" "0000612763" "00017092" "70" "333" "0" "333" "0" "c.333G>T" "r.(?)" "p.(Trp111Cys)" "" "0000612764" "00017092" "70" "392" "0" "392" "0" "c.392C>A" "r.(?)" "p.(Thr131Asn)" "" "0000612765" "00017092" "90" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Asp)" "" "0000612766" "00017092" "90" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Tyr138Cys)" "" "0000612767" "00017092" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Tyr155Cys)" "" "0000612768" "00017092" "70" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Tyr188Cys)" "" "0000612769" "00017092" "90" "741" "0" "741" "0" "c.741dup" "r.(?)" "p.(Pro248ThrfsTer5)" "" "0000622451" "00017092" "30" "-487" "0" "-485" "0" "c.-487_-485del" "r.(?)" "p.(=)" "" "0000622452" "00017092" "10" "-9" "0" "-9" "0" "c.-9C>G" "r.(?)" "p.(=)" "" "0000647277" "00017092" "70" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "" "0000648023" "00017092" "50" "202" "0" "202" "0" "c.202T>A" "r.(?)" "p.(Tyr68Asn)" "" "0000648024" "00017092" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Arg)" "" "0000648025" "00017092" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Cys136Tyr)" "" "0000648026" "00017092" "90" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Pro246Leu)" "" "0000648027" "00017092" "90" "956" "0" "959" "0" "c.956_959del" "r.(?)" "p.(Thr319Lysfs*24)" "" "0000648028" "00017092" "50" "1066" "0" "1066" "0" "c.1066A>G" "r.(?)" "p.(Asn356Asp)" "" "0000652975" "00017092" "70" "253" "1" "253" "1" "c.253+1G>A" "r.spl?" "p.?" "" "0000653442" "00017092" "50" "-838" "0" "-838" "0" "c.-838C>T" "r.(?)" "p.(?)" "" "0000656590" "00017092" "90" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Glu7Ter)" "" "0000656592" "00017092" "30" "253" "4" "253" "7" "c.253+4_253+7del" "r.spl?" "p.?" "" "0000656593" "00017092" "30" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "" "0000656594" "00017092" "10" "802" "-5" "802" "-3" "c.802-5_802-3dup" "r.spl?" "p.?" "" "0000656595" "00017092" "10" "802" "-4" "802" "-3" "c.802-4_802-3dup" "r.spl?" "p.?" "" "0000656596" "00017092" "90" "802" "-1" "802" "-1" "c.802-1G>A" "r.spl?" "p.?" "" "0000656597" "00017092" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308His)" "" "0000678947" "00017092" "30" "-460" "0" "-460" "0" "c.-460G>A" "r.(?)" "p.(=)" "" "0000678948" "00017092" "30" "-342" "0" "-342" "0" "c.-342G>A" "r.(?)" "p.(=)" "" "0000678949" "00017092" "30" "79" "7" "79" "7" "c.79+7A>T" "r.(=)" "p.(=)" "" "0000678950" "00017092" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Leu193=)" "" "0000678951" "00017092" "50" "732" "0" "732" "0" "c.732T>C" "r.(?)" "p.(Pro244=)" "" "0000678952" "00017092" "90" "1026" "1" "1026" "1" "c.1026+1G>C" "r.spl?" "p.?" "" "0000678953" "00017092" "30" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Asp368=)" "" "0000683338" "00017092" "70" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233*)" "" "0000683386" "00017092" "70" "149" "0" "149" "0" "c.149T>C" "r.(?)" "p.(Ile50Thr)" "" "0000686955" "00017092" "10" "-487" "0" "-485" "0" "c.-487_-485dup" "r.(?)" "p.(=)" "" "0000687735" "00017092" "90" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Met35Val)" "" "0000690819" "00017092" "50" "-2322" "0" "-2321" "0" "c.-2322_-2321del" "r.(?)" "p.(=)" "" "0000690820" "00017092" "30" "-131" "0" "-131" "0" "c.-131A>G" "r.(?)" "p.(=)" "" "0000690821" "00017092" "70" "97" "0" "99" "0" "c.97_99del" "r.(?)" "p.(Ile33del)" "" "0000690822" "00017092" "70" "202" "0" "202" "0" "c.202T>A" "r.(?)" "p.(Tyr68Asn)" "" "0000690823" "00017092" "90" "209" "1" "209" "1" "c.209+1G>C" "r.spl?" "p.?" "" "0000690824" "00017092" "70" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Val119Phe)" "" "0000690825" "00017092" "70" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Phe154Cys)" "" "0000690826" "00017092" "30" "612" "0" "612" "0" "c.612A>G" "r.(?)" "p.(Pro204=)" "" "0000722996" "00017092" "70" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Met35Val)" "" "0000722997" "00017092" "50" "155" "0" "157" "0" "c.155_157del" "r.(?)" "p.(Asp52del)" "" "0000722998" "00017092" "70" "166" "0" "166" "0" "c.166T>G" "r.(?)" "p.(Phe56Val)" "" "0000722999" "00017092" "90" "209" "1" "209" "2" "c.209+1_209+2del" "r.spl?" "p.?" "" "0000723000" "00017092" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Cys136Tyr)" "" "0000723001" "00017092" "50" "613" "0" "613" "0" "c.613A>G" "r.(?)" "p.(Met205Val)" "" "0000723002" "00017092" "90" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Cys211Ter)" "" "0000723003" "00017092" "30" "635" "-16" "635" "-16" "c.635-16G>A" "r.(=)" "p.(=)" "" "0000723004" "00017092" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Gln214*)" "" "0000723005" "00017092" "90" "679" "0" "679" "0" "c.679del" "r.(?)" "p.(Ser227Profs*29)" "" "0000723006" "00017092" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Gln261*)" "" "0000723007" "00017092" "10" "802" "-103" "802" "-103" "c.802-103A>G" "r.(=)" "p.(=)" "" "0000723008" "00017092" "30" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0000737088" "00017092" "50" "548" "0" "548" "0" "c.548dup" "r.(?)" "p.(Asn184Glufs*6)" "" "0000741968" "00017092" "50" "2" "0" "2" "0" "c.2T>G" "r.?" "p.?" "" "0000741969" "00017092" "50" "4" "0" "4" "0" "c.4A>G" "r.(?)" "p.(Thr2Ala)" "" "0000741970" "00017092" "50" "13" "0" "13" "0" "c.13A>G" "r.(?)" "p.(Ile5Val)" "" "0000741971" "00017092" "50" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Gly20Glu)" "" "0000741972" "00017092" "50" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "" "0000741973" "00017092" "50" "97" "0" "97" "0" "c.97A>G" "r.(?)" "p.(Ile33Val)" "" "0000741974" "00017092" "50" "101" "0" "101" "0" "c.101C>G" "r.(?)" "p.(Ala34Gly)" "" "0000741975" "00017092" "50" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Ala34Val)" "" "0000741976" "00017092" "50" "115" "0" "115" "0" "c.115G>T" "r.(?)" "p.(Ala39Ser)" "" "0000741977" "00017092" "50" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Lys)" "" "0000741978" "00017092" "50" "136" "0" "136" "0" "c.136T>C" "r.(?)" "p.(Tyr46His)" "" "0000741979" "00017092" "50" "143" "0" "143" "0" "c.143A>G" "r.(?)" "p.(Asn48Ser)" "" "0000741980" "00017092" "50" "164" "0" "164" "0" "c.164G>T" "r.(?)" "p.(Arg55Met)" "" "0000741981" "00017092" "50" "164" "2" "164" "2" "c.164+2T>C" "r.spl?" "p.?" "" "0000741982" "00017092" "50" "173" "0" "173" "0" "c.173A>T" "r.(?)" "p.(Asp58Val)" "" "0000741983" "00017092" "50" "193" "0" "193" "0" "c.193T>C" "r.(?)" "p.(Tyr65His)" "" "0000741984" "00017092" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Ala86Thr)" "" "0000741985" "00017092" "50" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Ile101Thr)" "" "0000741986" "00017092" "50" "345" "0" "345" "0" "c.345T>G" "r.(?)" "p.(Asp115Glu)" "" "0000741987" "00017092" "50" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "" "0000741988" "00017092" "50" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Ile122Val)" "" "0000741989" "00017092" "50" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Lys147Glu)" "" "0000741990" "00017092" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161Lys)" "" "0000741991" "00017092" "50" "556" "0" "556" "0" "c.556C>G" "r.(?)" "p.(Leu186Val)" "" "0000741992" "00017092" "50" "595" "0" "595" "0" "c.595A>G" "r.(?)" "p.(Met199Val)" "" "0000741993" "00017092" "50" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Met199Ile)" "" "0000741994" "00017092" "50" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Cys211Arg)" "" "0000741995" "00017092" "50" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Val216Ala)" "" "0000741996" "00017092" "50" "658" "0" "658" "0" "c.658C>G" "r.(?)" "p.(Leu220Val)" "" "0000741997" "00017092" "50" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ser227Phe)" "" "0000741998" "00017092" "50" "683" "0" "683" "0" "c.683A>G" "r.(?)" "p.(Asn228Ser)" "" "0000741999" "00017092" "50" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Lys237Glu)" "" "0000742000" "00017092" "50" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Gln245Arg)" "" "0000742001" "00017092" "50" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Cys250Tyr)" "" "0000742002" "00017092" "50" "841" "0" "841" "0" "c.841C>G" "r.(?)" "p.(Pro281Ala)" "" "0000742003" "00017092" "50" "907" "0" "907" "0" "c.907A>G" "r.(?)" "p.(Ile303Val)" "" "0000742004" "00017092" "50" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Ser305Asn)" "" "0000742005" "00017092" "50" "920" "0" "920" "0" "c.920A>G" "r.(?)" "p.(Glu307Gly)" "" "0000742006" "00017092" "50" "956" "0" "956" "0" "c.956C>A" "r.(?)" "p.(Thr319Asn)" "" "0000742007" "00017092" "50" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "" "0000742008" "00017092" "50" "1024" "0" "1024" "0" "c.1024A>G" "r.(?)" "p.(Lys342Glu)" "" "0000742009" "00017092" "50" "1138" "0" "1138" "0" "c.1138T>C" "r.(?)" "p.(Ser380Pro)" "" "0000742010" "00017092" "50" "1170" "0" "1170" "0" "c.1170A>C" "r.(?)" "p.(Glu390Asp)" "" "0000743219" "00017092" "50" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Arg55Glyfs*44)" "" "0000743220" "00017092" "50" "275" "0" "275" "0" "c.275dup" "r.(?)" "p.(Asp92Glufs*3)" "" "0000743221" "00017092" "50" "392" "0" "392" "0" "c.392dup" "r.(?)" "p.(Gly132Trpfs*48)" "" "0000743222" "00017092" "50" "631" "0" "631" "0" "c.631del" "r.(?)" "p.(Cys211Alafs*10)" "" "0000743223" "00017092" "50" "631" "0" "631" "0" "c.631dup" "r.(?)" "p.(Cys211Leufs*32)" "" "0000743224" "00017092" "50" "955" "0" "958" "0" "c.955_958del" "r.(?)" "p.(Thr319*)" "" "0000743225" "00017092" "50" "955" "0" "955" "0" "c.955dup" "r.(?)" "p.(Thr319Asnfs*6)" "" "0000743288" "00017092" "50" "485" "0" "487" "0" "c.485_487delinsCC" "r.(?)" "p.(Asp162Alafs*5)" "" "0000743289" "00017092" "50" "641" "0" "641" "0" "c.641del" "r.(?)" "p.(Gln214Argfs*7)" "" "0000749113" "00017092" "50" "56" "0" "56" "0" "c.56A>G" "r.(?)" "p.(Asp19Gly)" "" "0000749114" "00017092" "50" "76" "0" "76" "0" "c.76A>G" "r.(?)" "p.(Thr26Ala)" "" "0000749115" "00017092" "50" "80" "-1" "80" "-1" "c.80-1G>A" "r.spl?" "p.?" "" "0000749116" "00017092" "50" "91" "0" "91" "0" "c.91A>G" "r.(?)" "p.(Asn31Asp)" "" "0000749117" "00017092" "50" "104" "0" "104" "0" "c.104T>A" "r.(?)" "p.(Met35Lys)" "" "0000749118" "00017092" "50" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Phe37Ser)" "" "0000749119" "00017092" "50" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Pro38Leu)" "" "0000749120" "00017092" "50" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Arg41Gly)" "" "0000749121" "00017092" "50" "125" "0" "125" "0" "c.125T>A" "r.(?)" "p.(Leu42His)" "" "0000749122" "00017092" "50" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Arg47Gly)" "" "0000749123" "00017092" "50" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Asn49Ser)" "" "0000749124" "00017092" "50" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Asp52Gly)" "" "0000749125" "00017092" "50" "164" "1" "164" "1" "c.164+1G>C" "r.spl?" "p.?" "" "0000749126" "00017092" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Asp58Asn)" "" "0000749127" "00017092" "50" "178" "0" "178" "0" "c.178A>G" "r.(?)" "p.(Lys60Glu)" "" "0000749128" "00017092" "50" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Asn63Ser)" "" "0000749129" "00017092" "50" "209" "1" "209" "1" "c.209+1G>A" "r.spl?" "p.?" "" "0000749130" "00017092" "50" "254" "-2" "254" "-2" "c.254-2A>C" "r.spl?" "p.?" "" "0000749131" "00017092" "50" "254" "-2" "254" "-2" "c.254-2A>G" "r.spl?" "p.?" "" "0000749132" "00017092" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "" "0000749133" "00017092" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(His123Tyr)" "" "0000749134" "00017092" "50" "376" "0" "376" "0" "c.376G>C" "r.(?)" "p.(Ala126Pro)" "" "0000749135" "00017092" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130*)" "" "0000749136" "00017092" "50" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(Ile135Thr)" "" "0000749137" "00017092" "50" "406" "0" "406" "0" "c.406T>C" "r.(?)" "p.(Cys136Arg)" "" "0000749138" "00017092" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000749139" "00017092" "50" "432" "0" "432" "0" "c.432A>T" "r.(?)" "p.(Lys144Asn)" "" "0000749140" "00017092" "50" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Gln149*)" "" "0000749141" "00017092" "50" "491" "0" "491" "0" "c.491A>G" "r.(?)" "p.(Lys164Arg)" "" "0000749142" "00017092" "50" "493" "-1" "493" "-1" "c.493-1G>A" "r.spl?" "p.?" "" "0000749143" "00017092" "50" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Val175Met)" "" "0000749144" "00017092" "50" "524" "0" "524" "0" "c.524T>A" "r.(?)" "p.(Val175Glu)" "" "0000749145" "00017092" "50" "540" "0" "540" "0" "c.540C>A" "r.(?)" "p.(Tyr180*)" "" "0000749146" "00017092" "50" "561" "0" "561" "0" "c.561T>G" "r.(?)" "p.(Asp187Glu)" "" "0000749147" "00017092" "50" "613" "0" "613" "0" "c.613A>G" "r.(?)" "p.(Met205Val)" "" "0000749148" "00017092" "50" "616" "0" "616" "0" "c.616T>C" "r.(?)" "p.(Phe206Leu)" "" "0000749149" "00017092" "50" "634" "1" "634" "1" "c.634+1G>C" "r.spl?" "p.?" "" "0000749150" "00017092" "50" "635" "-1" "635" "-1" "c.635-1G>A" "r.spl?" "p.?" "" "0000749151" "00017092" "50" "656" "0" "656" "0" "c.656A>G" "r.(?)" "p.(Gln219Arg)" "" "0000749152" "00017092" "50" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Lys221Glu)" "" "0000749153" "00017092" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Pro244Ser)" "" "0000749154" "00017092" "50" "743" "0" "743" "0" "c.743C>G" "r.(?)" "p.(Pro248Arg)" "" "0000749155" "00017092" "50" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(Lys254Arg)" "" "0000749156" "00017092" "50" "769" "0" "769" "0" "c.769T>C" "r.(?)" "p.(Phe257Leu)" "" "0000749157" "00017092" "50" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Gln261*)" "" "0000749158" "00017092" "50" "796" "0" "796" "0" "c.796A>G" "r.(?)" "p.(Lys266Glu)" "" "0000749159" "00017092" "50" "820" "0" "820" "0" "c.820T>C" "r.(?)" "p.(Trp274Arg)" "" "0000749160" "00017092" "50" "836" "0" "836" "0" "c.836T>C" "r.(?)" "p.(Phe279Ser)" "" "0000749161" "00017092" "50" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000749162" "00017092" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Glu288Lys)" "" "0000749163" "00017092" "50" "877" "0" "877" "0" "c.877G>T" "r.(?)" "p.(Gly293*)" "" "0000749164" "00017092" "50" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Ser294Asn)" "" "0000749165" "00017092" "50" "889" "0" "889" "0" "c.889G>C" "r.(?)" "p.(Asp297His)" "" "0000749166" "00017092" "50" "889" "0" "889" "0" "c.889G>T" "r.(?)" "p.(Asp297Tyr)" "" "0000749167" "00017092" "50" "892" "0" "892" "0" "c.892C>G" "r.(?)" "p.(Gln298Glu)" "" "0000749168" "00017092" "50" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Arg308Cys)" "" "0000749169" "00017092" "50" "929" "0" "929" "0" "c.929A>G" "r.(?)" "p.(Asp310Gly)" "" "0000749170" "00017092" "50" "974" "0" "974" "0" "c.974T>C" "r.(?)" "p.(Leu325Pro)" "" "0000749171" "00017092" "50" "1078" "0" "1078" "0" "c.1078A>G" "r.(?)" "p.(Ser360Gly)" "" "0000749172" "00017092" "50" "1081" "0" "1081" "0" "c.1081A>C" "r.(?)" "p.(Ser361Arg)" "" "0000749173" "00017092" "50" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Val365Ile)" "" "0000749174" "00017092" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Asp371Ala)" "" "0000749175" "00017092" "50" "1160" "0" "1160" "0" "c.1160C>T" "r.(?)" "p.(Pro387Leu)" "" "0000754171" "00017092" "50" "61" "0" "61" "0" "c.61T>C" "r.(?)" "p.(Phe21Leu)" "" "0000754172" "00017092" "50" "80" "-2" "80" "-2" "c.80-2A>G" "r.spl?" "p.?" "" "0000754173" "00017092" "50" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Val45Ala)" "" "0000754174" "00017092" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000754175" "00017092" "50" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(Lys147Arg)" "" "0000754176" "00017092" "50" "673" "0" "673" "0" "c.673T>C" "r.(?)" "p.(Tyr225His)" "" "0000754177" "00017092" "50" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Lys260Arg)" "" "0000754178" "00017092" "50" "859" "0" "859" "0" "c.859T>C" "r.(?)" "p.(Ser287Pro)" "" "0000754179" "00017092" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Asp301Asn)" "" "0000754180" "00017092" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308His)" "" "0000754181" "00017092" "50" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asn334Ser)" "" "0000754182" "00017092" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "" "0000754183" "00017092" "50" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0000754184" "00017092" "50" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Pro354Leu)" "" "0000754185" "00017092" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "0000758945" "00017092" "50" "61" "0" "61" "0" "c.61T>C" "r.(?)" "p.(Phe21Leu)" "" "0000758946" "00017092" "50" "80" "-2" "80" "-2" "c.80-2A>G" "r.spl?" "p.?" "" "0000758947" "00017092" "50" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Val45Ala)" "" "0000758948" "00017092" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000758949" "00017092" "50" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(Lys147Arg)" "" "0000758950" "00017092" "50" "673" "0" "673" "0" "c.673T>C" "r.(?)" "p.(Tyr225His)" "" "0000758951" "00017092" "50" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Lys260Arg)" "" "0000758952" "00017092" "50" "859" "0" "859" "0" "c.859T>C" "r.(?)" "p.(Ser287Pro)" "" "0000758953" "00017092" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Asp301Asn)" "" "0000758954" "00017092" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308His)" "" "0000758955" "00017092" "50" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asn334Ser)" "" "0000758956" "00017092" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "" "0000758957" "00017092" "50" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0000758958" "00017092" "50" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Pro354Leu)" "" "0000758959" "00017092" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "0000786997" "00017092" "70" "304" "0" "304" "0" "c.304A>T" "r.(?)" "p.(Lys102Ter)" "5" "0000795090" "00017092" "90" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Tyr68His)" "" "0000804602" "00017092" "30" "-533" "0" "-531" "0" "c.-533_-531dup" "r.(?)" "p.(=)" "" "0000804603" "00017092" "30" "-510" "0" "-510" "0" "c.-510G>A" "r.(?)" "p.(=)" "" "0000804604" "00017092" "30" "-487" "0" "-485" "0" "c.-487_-485dup" "r.(?)" "p.(=)" "" "0000804605" "00017092" "10" "-366" "0" "-365" "0" "c.-366_-365=" "r.(=)" "p.(=)" "" "0000804606" "00017092" "10" "-326" "0" "-326" "0" "c.-326=" "r.(=)" "p.(=)" "" "0000804607" "00017092" "70" "302" "0" "302" "0" "c.302T>A" "r.(?)" "p.(Ile101Asn)" "" "0000804608" "00017092" "70" "384" "0" "384" "0" "c.384G>C" "r.(?)" "p.(Lys128Asn)" "" "0000804609" "00017092" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Val133Ile)" "" "0000804610" "00017092" "70" "455" "0" "455" "0" "c.455T>C" "r.(?)" "p.(Leu152Pro)" "" "0000804611" "00017092" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Tyr155Cys)" "" "0000804612" "00017092" "90" "634" "5" "634" "5" "c.634+5G>A" "r.spl?" "p.?" "" "0000804613" "00017092" "30" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Tyr240=)" "" "0000804614" "00017092" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Gln261*)" "" "0000804615" "00017092" "10" "802" "-3" "802" "-3" "c.802-3del" "r.spl?" "p.?" "" "0000804616" "00017092" "10" "802" "-3" "802" "-3" "c.802-3dup" "r.spl?" "p.?" "" "0000804617" "00017092" "90" "956" "0" "959" "0" "c.956_959del" "r.(?)" "p.(Thr319Lysfs*24)" "" "0000804618" "00017092" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Ter)" "" "0000804619" "00017092" "10" "1026" "32" "1026" "32" "c.1026+32T>G" "r.(=)" "p.(=)" "" "0000833970" "00017092" "90" "253" "1" "253" "1" "c.253+1G>A" "r.spl" "p.?" "" "0000845110" "00017092" "90" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Tyr176Cys)" "" "0000852615" "00017092" "10" "-1143" "0" "-1143" "0" "c.-1143C>T" "r.(?)" "p.(=)" "" "0000852616" "00017092" "10" "-1060" "0" "-1060" "0" "c.-1060C>G" "r.(?)" "p.(=)" "" "0000852617" "00017092" "30" "-474" "0" "-474" "0" "c.-474G>A" "r.(?)" "p.(=)" "" "0000852618" "00017092" "50" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Arg14Lys)" "" "0000852619" "00017092" "30" "165" "-13" "165" "-10" "c.165-13_165-10del" "r.(=)" "p.(=)" "" "0000852620" "00017092" "90" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Tyr68Cys)" "" "0000852621" "00017092" "30" "210" "-9" "210" "-9" "c.210-9T>C" "r.(=)" "p.(=)" "" "0000852622" "00017092" "50" "685" "0" "685" "0" "c.685T>A" "r.(?)" "p.(Ser229Thr)" "" "0000852623" "00017092" "10" "802" "-51" "802" "-14" "c.802-51_802-14del" "r.(=)" "p.(=)" "" "0000862065" "00017092" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Gly44=)" "" "0000862066" "00017092" "10" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Gly44=)" "" "0000862067" "00017092" "50" "200" "0" "200" "0" "c.200T>A" "r.(?)" "p.(Ile67Lys)" "" "0000862068" "00017092" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Thr78=)" "" "0000862069" "00017092" "30" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000862070" "00017092" "90" "492" "1" "492" "1" "c.492+1G>T" "r.spl?" "p.?" "" "0000862071" "00017092" "10" "802" "-4" "802" "-3" "c.802-4_802-3dup" "r.spl?" "p.?" "" "0000868446" "00017092" "70" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Gly20*)" "" "0000868447" "00017092" "70" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "" "0000877215" "00017092" "90" "634" "4" "634" "4" "c.634+4A>G" "r.(?)" "p.(?)" "" "0000877658" "00017092" "70" "0" "0" "0" "0" "-" "r.(?)" "p.(?)" "_1" "0000877659" "00017092" "70" "-952" "0" "-952" "0" "c.-952C>T" "r.(?)" "p.?" "" "0000877660" "00017092" "70" "-465" "0" "-465" "0" "c.-465G>C" "r.(?)" "p.?" "" "0000877661" "00017092" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000877662" "00017092" "70" "17" "0" "18" "0" "c.17_18del" "r.(?)" "p.(Lys6Argfs*4)" "" "0000877663" "00017092" "70" "30" "0" "30" "0" "c.30dup" "r.(?)" "p.(Arg11Glnfs*33)" "" "0000877664" "00017092" "70" "39" "0" "40" "0" "c.39_40del" "r.(?)" "p.(Arg14Glufs*29)" "" "0000877665" "00017092" "70" "46" "0" "46" "0" "c.46T>G" "r.(?)" "p.(Tyr16Asp)" "" "0000877666" "00017092" "70" "47" "0" "48" "0" "c.47_48del" "r.(?)" "p.(Tyr16Serfs*27)" "" "0000877667" "00017092" "70" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Gly20Ala)" "" "0000877668" "00017092" "70" "70" "0" "70" "0" "c.70G>C" "r.(?)" "p.(Asp24His)" "" "0000877669" "00017092" "70" "71" "0" "71" "0" "c.71A>G" "r.(?)" "p.(Asp24Gly)" "" "0000877670" "00017092" "70" "71" "0" "71" "0" "c.71A>T" "r.(?)" "p.(Asp24Val)" "" "0000877671" "00017092" "70" "73" "0" "74" "0" "c.73_74del" "r.(?)" "p.(Leu25Aspfs*18)" "" "0000877672" "00017092" "70" "75" "0" "75" "0" "c.75G>T" "r.(?)" "p.(Leu25Phe)" "" "0000877673" "00017092" "70" "77" "0" "77" "0" "c.77C>A" "r.(?)" "p.(Thr26Asn)" "" "0000877674" "00017092" "70" "80" "-1" "80" "0" "c.80-1_80del" "r.(?)" "p.?" "" "0000877675" "00017092" "70" "80" "-1" "80" "-1" "c.80-1G>C" "r.(?)" "p.?" "" "0000877676" "00017092" "70" "83" "0" "83" "0" "c.83T>C" "r.(?)" "p.(Ile28Thr)" "" "0000877677" "00017092" "70" "89" "0" "89" "0" "c.89C>A" "r.(?)" "p.(Pro30Gln)" "" "0000877678" "00017092" "70" "94" "0" "94" "0" "c.94A>T" "r.(?)" "p.(Ile32Phe)" "" "0000877679" "00017092" "70" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Ala34Asp)" "" "0000877680" "00017092" "70" "106" "0" "106" "0" "c.106G>T" "r.(?)" "p.(Gly36*)" "" "0000877681" "00017092" "70" "127" "0" "127" "0" "c.127dup" "r.(?)" "p.(Glu43Glyfs*9)" "" "0000877682" "00017092" "70" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Gly44Asp)" "" "0000877683" "00017092" "70" "138" "0" "138" "0" "c.138C>A" "r.(?)" "p.(Tyr46*)" "" "0000877684" "00017092" "70" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Arg47Gly)" "" "0000877685" "00017092" "70" "144" "0" "146" "0" "c.144_146dup" "r.(?)" "p.(Asn49dup)" "" "0000877686" "00017092" "70" "149" "0" "149" "0" "c.149T>C" "r.(?)" "p.(Ile50Thr)" "" "0000877687" "00017092" "70" "155" "0" "157" "0" "c.155_157del" "r.(?)" "p.(Asp52del)" "" "0000877688" "00017092" "70" "164" "1" "164" "1" "c.164+1G>C" "r.(?)" "p.?" "" "0000877689" "00017092" "70" "164" "1" "164" "1" "c.164+1G>T" "r.(?)" "p.?" "" "0000877690" "00017092" "70" "165" "-31" "165" "-31" "c.165-31G>T" "r.(?)" "p.?" "" "0000877691" "00017092" "70" "165" "-18" "165" "-18" "c.165-18T>A" "r.(?)" "p.?" "" "0000877692" "00017092" "70" "165" "-1" "165" "-1" "c.165-1delinsTAAA" "r.(?)" "p.?" "" "0000877693" "00017092" "70" "170" "0" "170" "0" "c.170T>G" "r.(?)" "p.(Leu57Trp)" "" "0000877694" "00017092" "70" "172" "0" "172" "0" "c.172del" "r.(?)" "p.(Asp58Ilefs*41)" "" "0000877695" "00017092" "70" "176" "0" "176" "0" "c.176C>A" "r.(?)" "p.(Ser59*)" "" "0000877696" "00017092" "70" "176" "0" "176" "0" "c.176C>G" "r.(?)" "p.(Ser59*)" "" "0000877697" "00017092" "70" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(His61Arg)" "" "0000877698" "00017092" "70" "195" "0" "195" "0" "c.195C>A" "r.(?)" "p.(Tyr65*)" "" "0000877699" "00017092" "70" "197" "0" "201" "0" "c.197_201dup" "r.(?)" "p.(Tyr68Argfs*33)" "" "0000877700" "00017092" "70" "202" "0" "202" "0" "c.202T>G" "r.(?)" "p.(Tyr68Asp)" "" "0000877701" "00017092" "70" "203" "0" "204" "0" "c.203_204delinsT" "r.(?)" "p.(Tyr68Leufs*31)" "" "0000877702" "00017092" "70" "206" "0" "206" "0" "c.206del" "r.(?)" "p.(Asn69Ilefs*30)" "" "0000877703" "00017092" "70" "209" "0" "209" "0" "c.209T>C" "r.(?)" "p.(Leu70Pro)" "" "0000877704" "00017092" "70" "209" "11" "209" "11" "c.209+11T>G" "r.(?)" "p.?" "" "0000877705" "00017092" "70" "210" "-7" "210" "-3" "c.210-7_210-3del" "r.(?)" "p.?" "" "0000877706" "00017092" "70" "210" "-2" "210" "-2" "c.210-2A>G" "r.(?)" "p.?" "" "0000877707" "00017092" "70" "219" "0" "222" "0" "c.219_222dup" "r.(?)" "p.(His75Lysfs*4)" "" "0000877708" "00017092" "70" "227" "0" "228" "0" "c.227_228del" "r.(?)" "p.(Tyr76*)" "" "0000877709" "00017092" "70" "227" "0" "227" "0" "c.227A>T" "r.(?)" "p.(Tyr76Phe)" "" "0000877710" "00017092" "70" "234" "0" "234" "0" "c.234del" "r.(?)" "p.(Ala79Profs*20)" "" "0000877711" "00017092" "70" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Ala79Ser)" "" "0000877712" "00017092" "70" "249" "0" "249" "0" "c.249C>A" "r.(?)" "p.(Cys83*)" "" "0000877713" "00017092" "70" "253" "5" "253" "5" "c.253+5G>C" "r.(?)" "p.?" "" "0000877714" "00017092" "70" "253" "5" "253" "5" "c.253+5G>T" "r.(?)" "p.?" "" "0000877715" "00017092" "70" "253" "108" "253" "109" "c.253+108_253+109insTCTTA" "r.(?)" "p.?" "" "0000877716" "00017092" "70" "254" "-30" "254" "-30" "c.254-30dup" "r.(?)" "p.?" "" "0000877717" "00017092" "70" "264" "0" "264" "0" "c.264T>A" "r.(?)" "p.(Tyr88*)" "" "0000877718" "00017092" "70" "264" "0" "264" "0" "c.264T>G" "r.(?)" "p.(Tyr88*)" "" "0000877719" "00017092" "70" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Pro96Leu)" "" "0000877720" "00017092" "70" "295" "0" "295" "0" "c.295G>T" "r.(?)" "p.(Glu99*)" "" "0000877721" "00017092" "70" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Ile101Thr)" "" "0000877722" "00017092" "70" "306" "0" "306" "0" "c.306del" "r.(?)" "p.(Lys102Asnfs*11)" "" "0000877723" "00017092" "70" "309" "0" "309" "0" "c.309del" "r.(?)" "p.(Cys105Valfs*8)" "" "0000877724" "00017092" "70" "313" "0" "313" "0" "c.313T>C" "r.(?)" "p.(Cys105Arg)" "" "0000877725" "00017092" "70" "330" "0" "330" "0" "c.330dup" "r.(?)" "p.(Trp111Metfs*4)" "" "0000877726" "00017092" "70" "331" "0" "332" "0" "c.331_332delinsAT" "r.(?)" "p.(Trp111Met)" "" "0000877727" "00017092" "70" "331" "0" "331" "0" "c.331dup" "r.(?)" "p.(Trp111Leufs*4)" "" "0000877728" "00017092" "70" "331" "0" "331" "0" "c.331T>C" "r.(?)" "p.(Trp111Arg)" "" "0000877729" "00017092" "70" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.(Leu112Val)" "" "0000877730" "00017092" "70" "335" "0" "335" "0" "c.335T>C" "r.(?)" "p.(Leu112Pro)" "" "0000877731" "00017092" "70" "335" "0" "335" "0" "c.335T>G" "r.(?)" "p.(Leu112Arg)" "" "0000877732" "00017092" "70" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Val119Phe)" "" "0000877733" "00017092" "70" "362" "0" "362" "0" "c.362C>A" "r.(?)" "p.(Ala121Glu)" "" "0000877734" "00017092" "70" "367" "0" "367" "0" "c.367C>G" "r.(?)" "p.(His123Asp)" "" "0000877735" "00017092" "70" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(His123Arg)" "" "0000877736" "00017092" "70" "370" "0" "370" "0" "c.370T>A" "r.(?)" "p.(Cys124Ser)" "" "0000877737" "00017092" "70" "370" "0" "370" "0" "c.370T>C" "r.(?)" "p.(Cys124Arg)" "" "0000877738" "00017092" "70" "371" "0" "373" "0" "c.371_373delinsT" "r.(?)" "p.(Cys124Leufs*55)" "" "0000877739" "00017092" "70" "371" "0" "371" "0" "c.371G>C" "r.(?)" "p.(Cys124Ser)" "" "0000877740" "00017092" "70" "375" "0" "375" "0" "c.375A>T" "r.(?)" "p.(Lys125Asn)" "" "0000877741" "00017092" "70" "376" "0" "376" "0" "c.376G>C" "r.(?)" "p.(Ala126Pro)" "" "0000877742" "00017092" "70" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Ala126Val)" "" "0000877743" "00017092" "70" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Gly127Glu)" "" "0000877744" "00017092" "70" "380" "0" "380" "0" "c.380G>T" "r.(?)" "p.(Gly127Val)" "" "0000877745" "00017092" "70" "389" "0" "389" "0" "c.389del" "r.(?)" "p.(Arg130Glnfs*4)" "" "0000877746" "00017092" "70" "389" "0" "389" "0" "c.389G>C" "r.(?)" "p.(Arg130Pro)" "" "0000877747" "00017092" "70" "389" "0" "389" "0" "c.389G>T" "r.(?)" "p.(Arg130Leu)" "" "0000877748" "00017092" "70" "405" "0" "405" "0" "c.405dup" "r.(?)" "p.(Cys136Metfs*44)" "" "0000877749" "00017092" "70" "414" "0" "416" "0" "c.414_416del" "r.(?)" "p.(Tyr138*)" "" "0000877750" "00017092" "70" "414" "0" "414" "0" "c.414T>G" "r.(?)" "p.(Tyr138*)" "" "0000877751" "00017092" "70" "416" "0" "419" "0" "c.416_419del" "r.(?)" "p.(Leu139Tyrfs*7)" "" "0000877752" "00017092" "70" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000877753" "00017092" "70" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Gly143Asp)" "" "0000877754" "00017092" "70" "433" "0" "433" "0" "c.433T>A" "r.(?)" "p.(Phe145Ile)" "" "0000877755" "00017092" "70" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Gln149*)" "" "0000877756" "00017092" "70" "455" "0" "455" "0" "c.455T>A" "r.(?)" "p.(Leu152Gln)" "" "0000877757" "00017092" "70" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Phe154Cys)" "" "0000877758" "00017092" "70" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Gly156Arg)" "" "0000877759" "00017092" "70" "466" "0" "466" "0" "c.466G>T" "r.(?)" "p.(Gly156Trp)" "" "0000877760" "00017092" "70" "469" "0" "469" "0" "c.469dup" "r.(?)" "p.(Glu157Glyfs*23)" "" "0000877761" "00017092" "70" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Arg159Gly)" "" "0000877762" "00017092" "70" "485" "0" "485" "0" "c.485A>G" "r.(?)" "p.(Asp162Gly)" "" "0000877763" "00017092" "70" "486" "0" "487" "0" "c.486_487del" "r.(?)" "p.(Asp162Glufs*17)" "" "0000877764" "00017092" "70" "491" "0" "491" "0" "c.491del" "r.(?)" "p.(Lys164Argfs*3)" "" "0000877765" "00017092" "70" "492" "1" "492" "1" "c.492+1del" "r.(?)" "p.?" "" "0000877766" "00017092" "70" "492" "1" "492" "1" "c.492+1G>A" "r.(?)" "p.?" "" "0000877767" "00017092" "70" "492" "2" "492" "2" "c.492+2T>G" "r.(?)" "p.?" "" "0000877768" "00017092" "70" "493" "0" "496" "0" "c.493_496dup" "r.(?)" "p.(Val166Glyfs*15)" "" "0000877769" "00017092" "70" "493" "0" "509" "0" "c.493_509del" "r.(?)" "p.(Gly165Serfs*9)" "" "0000877770" "00017092" "70" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Gly165Arg)" "" "0000877771" "00017092" "70" "507" "0" "507" "0" "c.507del" "r.(?)" "p.(Ser170Valfs*13)" "" "0000877772" "00017092" "70" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Ser170Asn)" "" "0000877773" "00017092" "70" "510" "0" "510" "0" "c.510T>A" "r.(?)" "p.(Ser170Arg)" "" "0000877774" "00017092" "70" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Gln171*)" "" "0000877775" "00017092" "70" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Gln171Argfs*12)" "" "0000877776" "00017092" "70" "514" "0" "514" "0" "c.514A>G" "r.(?)" "p.(Arg172Gly)" "" "0000877777" "00017092" "70" "517" "0" "517" "0" "c.517C>G" "r.(?)" "p.(Arg173Gly)" "" "0000877778" "00017092" "70" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Tyr174His)" "" "0000877779" "00017092" "70" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Tyr174Cys)" "" "0000877780" "00017092" "70" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "" "0000877781" "00017092" "70" "529" "0" "529" "0" "c.529T>G" "r.(?)" "p.(Tyr177Asp)" "" "0000877782" "00017092" "70" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Tyr178Cys)" "" "0000877783" "00017092" "70" "533" "0" "533" "0" "c.533dup" "r.(?)" "p.(Tyr178*)" "" "0000877784" "00017092" "70" "534" "0" "534" "0" "c.534T>A" "r.(?)" "p.(Tyr178*)" "" "0000877785" "00017092" "70" "534" "0" "534" "0" "c.534T>G" "r.(?)" "p.(Tyr178*)" "" "0000877786" "00017092" "70" "548" "0" "548" "0" "c.548dup" "r.(?)" "p.(Asn184Glufs*6)" "" "0000877787" "00017092" "70" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Tyr188Cys)" "" "0000877788" "00017092" "70" "581" "0" "581" "0" "c.581T>A" "r.(?)" "p.(Leu194*)" "" "0000877789" "00017092" "70" "593" "0" "593" "0" "c.593T>C" "r.(?)" "p.(Met198Thr)" "" "0000877790" "00017092" "70" "623" "0" "623" "0" "c.623del" "r.(?)" "p.(Gly208Alafs*13)" "" "0000877791" "00017092" "70" "631" "0" "631" "0" "c.631dup" "r.(?)" "p.(Cys211Leufs*32)" "" "0000877792" "00017092" "70" "632" "0" "633" "0" "c.632_633delinsAG" "r.(?)" "p.(Cys211*)" "" "0000877793" "00017092" "70" "632" "0" "632" "0" "c.632dup" "r.(?)" "p.(Cys211Trpfs*32)" "" "0000877794" "00017092" "70" "633" "0" "633" "0" "c.633C>G" "r.(?)" "p.(Cys211Trp)" "" "0000877795" "00017092" "70" "634" "0" "634" "0" "c.634dup" "r.(?)" "p.(Asn212Lysfs*31)" "" "0000877796" "00017092" "70" "634" "1" "634" "1" "c.634+1G>T" "r.(?)" "p.?" "" "0000877797" "00017092" "70" "634" "2" "634" "2" "c.634+2T>G" "r.(?)" "p.?" "" "0000877798" "00017092" "70" "634" "3" "634" "3" "c.634+3A>C" "r.(?)" "p.?" "" "0000877799" "00017092" "70" "634" "5" "634" "5" "c.634+5G>C" "r.(?)" "p.?" "" "0000877800" "00017092" "70" "635" "-2" "658" "0" "c.635-2_658dup" "r.(?)" "p.(Leu220Glnfs*10)" "" "0000877801" "00017092" "70" "635" "-1" "635" "-1" "c.635-1G>C" "r.(?)" "p.?" "" "0000877802" "00017092" "70" "635" "-1" "635" "-1" "c.635-1G>T" "r.(?)" "p.?" "" "0000877803" "00017092" "70" "638" "0" "638" "0" "c.638C>G" "r.(?)" "p.(Pro213Arg)" "" "0000877804" "00017092" "70" "650" "0" "650" "0" "c.650T>G" "r.(?)" "p.(Val217Gly)" "" "0000877805" "00017092" "70" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Lys223Argfs*33)" "" "0000877806" "00017092" "70" "671" "0" "671" "0" "c.671dup" "r.(?)" "p.(Tyr225Ilefs*18)" "" "0000877807" "00017092" "70" "675" "0" "675" "0" "c.675T>G" "r.(?)" "p.(Tyr225*)" "" "0000877808" "00017092" "70" "693" "0" "693" "0" "c.693del" "r.(?)" "p.(Thr232Hisfs*24)" "" "0000877809" "00017092" "70" "703" "0" "703" "0" "c.703G>T" "r.(?)" "p.(Glu235*)" "" "0000877810" "00017092" "70" "713" "0" "713" "0" "c.713dup" "r.(?)" "p.(Met239Hisfs*4)" "" "0000877811" "00017092" "70" "714" "0" "715" "0" "c.714_715del" "r.(?)" "p.(Met239Valfs*3)" "" "0000877812" "00017092" "70" "723" "0" "724" "0" "c.723_724del" "r.(?)" "p.(Phe241Leufs*11)" "" "0000877813" "00017092" "70" "723" "0" "723" "0" "c.723dup" "r.(?)" "p.(Glu242*)" "" "0000877814" "00017092" "70" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Pro246Leu)" "" "0000877815" "00017092" "70" "742" "0" "746" "0" "c.742_746dup" "r.(?)" "p.(Cys250Leufs*8)" "" "0000877816" "00017092" "70" "755" "0" "755" "0" "c.755A>T" "r.(?)" "p.(Asp252Val)" "" "0000877817" "00017092" "70" "758" "0" "758" "0" "c.758T>G" "r.(?)" "p.(Ile253Ser)" "" "0000877818" "00017092" "70" "764" "0" "765" "0" "c.764_765delinsCTTT" "r.(?)" "p.(Val255Alafs*12)" "" "0000877819" "00017092" "70" "764" "0" "765" "0" "c.764_765dup" "r.(?)" "p.(Glu256*)" "" "0000877820" "00017092" "70" "765" "0" "765" "0" "c.765dup" "r.(?)" "p.(Glu256Argfs*42)" "" "0000877821" "00017092" "70" "770" "0" "770" "0" "c.770T>C" "r.(?)" "p.(Phe257Ser)" "" "0000877822" "00017092" "70" "788" "0" "788" "0" "c.788del" "r.(?)" "p.(Lys263Argfs*3)" "" "0000877823" "00017092" "70" "795" "0" "798" "0" "c.795_798delinsTTT" "r.(?)" "p.(Lys266Leufs*10)" "" "0000877824" "00017092" "70" "799" "0" "800" "0" "c.799_800insC" "r.(?)" "p.(Lys267Thrfs*31)" "" "0000877825" "00017092" "70" "801" "0" "801" "0" "c.801G>T" "r.(?)" "p.(Lys267Asn)" "" "0000877826" "00017092" "70" "802" "-2" "802" "-2" "c.802-2A>G" "r.(?)" "p.?" "" "0000877827" "00017092" "70" "803" "0" "823" "0" "c.803_823del" "r.(?)" "p.(Asp268_Trp274del)" "" "0000877828" "00017092" "70" "808" "0" "808" "0" "c.808A>G" "r.(?)" "p.(Met270Val)" "" "0000877829" "00017092" "70" "812" "0" "812" "0" "c.812T>G" "r.(?)" "p.(Phe271Cys)" "" "0000877830" "00017092" "70" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Trp274*)" "" "0000877831" "00017092" "70" "822" "0" "822" "0" "c.822G>A" "r.(?)" "p.(Trp274*)" "" "0000877832" "00017092" "70" "827" "0" "827" "0" "c.827del" "r.(?)" "p.(Asn276Ilefs*15)" "" "0000877833" "00017092" "70" "829" "0" "836" "0" "c.829_836del" "r.(?)" "p.(Thr277Hisfs*18)" "" "0000877834" "00017092" "70" "829" "0" "829" "0" "c.829A>G" "r.(?)" "p.(Thr277Ala)" "" "0000877835" "00017092" "70" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Gly282Arg)" "" "0000877836" "00017092" "70" "849" "0" "849" "0" "c.849del" "r.(?)" "p.(Glu284Argfs*7)" "" "0000877837" "00017092" "70" "850" "0" "850" "0" "c.850G>T" "r.(?)" "p.(Glu284*)" "" "0000877838" "00017092" "70" "853" "0" "853" "0" "c.853dup" "r.(?)" "p.(Glu285Glyfs*13)" "" "0000877839" "00017092" "70" "861" "0" "861" "0" "c.861del" "r.(?)" "p.(Glu288Lysfs*3)" "" "0000877840" "00017092" "70" "867" "0" "867" "0" "c.867dup" "r.(?)" "p.(Val290Serfs*8)" "" "0000877841" "00017092" "70" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Asn292Trpfs*5)" "" "0000877842" "00017092" "70" "877" "0" "877" "0" "c.877G>T" "r.(?)" "p.(Gly293*)" "" "0000877843" "00017092" "70" "884" "0" "884" "0" "c.884dup" "r.(?)" "p.(Cys296Metfs*2)" "" "0000877844" "00017092" "70" "885" "0" "886" "0" "c.885_886del" "r.(?)" "p.(Cys296*)" "" "0000877845" "00017092" "70" "886" "0" "893" "0" "c.886_893del" "r.(?)" "p.(Cys296Argfs*4)" "" "0000877846" "00017092" "70" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298*)" "" "0000877847" "00017092" "70" "898" "0" "898" "0" "c.898del" "r.(?)" "p.(Ile300Serfs*7)" "" "0000877848" "00017092" "70" "916" "0" "916" "0" "c.916dup" "r.(?)" "p.(Ile306Asnfs*6)" "" "0000877849" "00017092" "70" "929" "0" "929" "0" "c.929A>G" "r.(?)" "p.(Asp310Gly)" "" "0000877850" "00017092" "70" "930" "0" "931" "0" "c.930_931del" "r.(?)" "p.(Asp310Glufs*2)" "" "0000877851" "00017092" "70" "933" "0" "934" "0" "c.933_934insC" "r.(?)" "p.(Asp312Argfs*13)" "" "0000877852" "00017092" "70" "940" "0" "940" "0" "c.940del" "r.(?)" "p.(Glu314Asnfs*3)" "" "0000877853" "00017092" "70" "955" "0" "958" "0" "c.955_958del" "r.(?)" "p.(Thr319*)" "" "0000877854" "00017092" "70" "955" "0" "955" "0" "c.955dup" "r.(?)" "p.(Thr319Asnfs*6)" "" "0000877855" "00017092" "70" "956" "0" "959" "0" "c.956_959del" "r.(?)" "p.(Thr319Lysfs*24)" "" "0000877856" "00017092" "70" "959" "0" "959" "0" "c.959T>A" "r.(?)" "p.(Leu320*)" "" "0000877857" "00017092" "70" "959" "0" "959" "0" "c.959T>G" "r.(?)" "p.(Leu320*)" "" "0000877858" "00017092" "70" "970" "0" "970" "0" "c.970dup" "r.(?)" "p.(Asp324Glyfs*3)" "" "0000877859" "00017092" "70" "987" "0" "990" "0" "c.987_990del" "r.(?)" "p.(Asn329Lysfs*14)" "" "0000877860" "00017092" "70" "987" "0" "987" "0" "c.987dup" "r.(?)" "p.(Lys330*)" "" "0000877861" "00017092" "70" "989" "0" "990" "0" "c.989_990del" "r.(?)" "p.(Lys330Argfs*12)" "" "0000877862" "00017092" "70" "1027" "-10" "1028" "0" "c.1027-10_1028del" "r.(?)" "p.?" "" "0000877863" "00017092" "70" "1027" "-1" "1027" "-1" "c.1027-1G>A" "r.(?)" "p.?" "" "0000877864" "00017092" "70" "1027" "-1" "1027" "-1" "c.1027-1G>C" "r.(?)" "p.?" "" "0000877865" "00017092" "70" "1031" "0" "1031" "0" "c.1031del" "r.(?)" "p.(Lys344Serfs*8)" "" "0000877866" "00017092" "70" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0000877867" "00017092" "70" "1116" "0" "1119" "0" "c.1116_1119del" "r.(?)" "p.(Glu373Leufs*42)" "" "0000889293" "00017092" "50" "-834" "0" "-834" "0" "c.-834C>T" "r.(?)" "p.(=)" "" "0000889294" "00017092" "30" "-512" "0" "-512" "0" "c.-512G>T" "r.(?)" "p.(=)" "" "0000889295" "00017092" "70" "14" "0" "14" "0" "c.14T>A" "r.(?)" "p.(Ile5Asn)" "" "0000889296" "00017092" "90" "76" "0" "76" "0" "c.76del" "r.(?)" "p.(Thr26Profs*28)" "" "0000889297" "00017092" "30" "79" "7" "79" "7" "c.79+7A>T" "r.(=)" "p.(=)" "" "0000889298" "00017092" "30" "210" "-9" "210" "-9" "c.210-9T>C" "r.(=)" "p.(=)" "" "0000889299" "00017092" "50" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "" "0000889300" "00017092" "70" "374" "0" "374" "0" "c.374A>C" "r.(?)" "p.(Lys125Thr)" "" "0000889301" "00017092" "70" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Lys125Arg)" "" "0000889302" "00017092" "90" "406" "0" "406" "0" "c.406T>C" "r.(?)" "p.(Cys136Arg)" "" "0000889303" "00017092" "90" "492" "1" "492" "1" "c.492+1G>C" "r.spl?" "p.?" "" "0000889304" "00017092" "50" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Lys260Arg)" "" "0000889305" "00017092" "70" "1022" "0" "1022" "0" "c.1022T>A" "r.(?)" "p.(Phe341Tyr)" "" "0000909270" "00017092" "70" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Met35Val)" "2" "0000909271" "00017092" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Ter)" "5" "0000909272" "00017092" "70" "463" "0" "463" "0" "c.463T>A" "r.(?)" "p.(Tyr155Asn)" "5" "0000909273" "00017092" "90" "675" "0" "675" "0" "c.675T>A" "r.(?)" "p.(Tyr225Ter)" "7" "0000909274" "00017092" "90" "352" "0" "352" "0" "c.352dup" "r.(?)" "p.(His118ProfsTer8)" "5" "0000909275" "00017092" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Gln245Ter)" "7" "0000909276" "00017092" "90" "722" "0" "723" "0" "c.722_723dup" "r.(?)" "p.(Glu242LeufsTer15)" "7" "0000909277" "00017092" "70" "477" "0" "477" "0" "c.477G>T" "r.(?)" "p.(Arg159Ser)" "5" "0000909278" "00017092" "90" "955" "0" "958" "0" "c.955_958del" "r.(?)" "p.(Thr319Ter)" "8" "0000909279" "00017092" "90" "955" "0" "958" "0" "c.955_958del" "r.(?)" "p.(Thr319Ter)" "8" "0000909280" "00017092" "90" "352" "0" "352" "0" "c.352dup" "r.(?)" "p.(His118ProfsTer8)" "5" "0000909281" "00017092" "90" "48" "0" "48" "0" "c.48T>A" "r.(?)" "p.(Tyr16Ter)" "1" "0000909282" "00017092" "90" "801" "1" "801" "1" "c.801+1del" "r.spl" "p.?" "7i" "0000909283" "00017092" "90" "820" "0" "820" "0" "c.820del" "r.(?)" "p.(Trp274GlyfsTer2)" "8" "0000909284" "00017092" "90" "659" "0" "659" "0" "c.659dup" "r.(?)" "p.(Val222GlyfsTer21)" "7" "0000913351" "00017092" "90" "164" "2" "164" "2" "c.164+2T>A" "r.spl?" "p.?" "" "0000913352" "00017092" "70" "209" "6" "209" "6" "c.209+6T>A" "r.(=)" "p.(=)" "" "0000913353" "00017092" "90" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "" "0000913354" "00017092" "90" "316" "0" "316" "0" "c.316G>T" "r.(?)" "p.(Glu106*)" "" "0000913355" "00017092" "30" "321" "0" "321" "0" "c.321T>C" "r.(?)" "p.(Asp107=)" "" "0000913356" "00017092" "70" "364" "0" "364" "0" "c.364A>C" "r.(?)" "p.(Ile122Leu)" "" "0000913357" "00017092" "70" "758" "0" "758" "0" "c.758T>C" "r.(?)" "p.(Ile253Thr)" "" "0000913358" "00017092" "30" "801" "23" "801" "23" "c.801+23G>A" "r.(=)" "p.(=)" "" "0000913359" "00017092" "10" "802" "-51" "802" "-14" "c.802-51_802-14del" "r.(=)" "p.(=)" "" "0000913360" "00017092" "30" "802" "-5" "802" "-3" "c.802-5_802-3dup" "r.spl?" "p.?" "" "0000913361" "00017092" "90" "1027" "-1" "1027" "-1" "c.1027-1G>T" "r.spl?" "p.?" "" "0000913362" "00017092" "10" "1287" "0" "1287" "0" "c.*75del" "r.(?)" "p.(=)" "" "0000925214" "00017092" "50" "-2322" "0" "-2321" "0" "c.-2322_-2321del" "r.(?)" "p.(=)" "" "0000925215" "00017092" "30" "-510" "0" "-510" "0" "c.-510G>A" "r.(?)" "p.(=)" "" "0000925216" "00017092" "50" "71" "0" "71" "0" "c.71A>C" "r.(?)" "p.(Asp24Ala)" "" "0000925217" "00017092" "70" "155" "0" "157" "0" "c.155_157del" "r.(?)" "p.(Asp52del)" "" "0000925218" "00017092" "30" "210" "-9" "210" "-9" "c.210-9T>C" "r.(=)" "p.(=)" "" "0000925219" "00017092" "90" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Cys211Ter)" "" "0000925220" "00017092" "90" "822" "0" "822" "0" "c.822G>A" "r.(?)" "p.(Trp274*)" "" "0000925221" "00017092" "90" "1027" "-1" "1027" "-1" "c.1027-1G>A" "r.spl?" "p.?" "" "0000927835" "00017092" "70" "864" "0" "864" "0" "c.864A>T" "r.(?)" "p.(Glu288Asp)" "5" "0000929719" "00017092" "30" "-487" "0" "-485" "0" "c.-487_-485dup" "r.(?)" "p.(=)" "" "0000929720" "00017092" "70" "160" "0" "162" "0" "c.160_162del" "r.(?)" "p.(Val54del)" "" "0000929721" "00017092" "90" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Pro246Leu)" "" "0000931501" "00017092" "70" "754" "0" "754" "0" "c.754G>C" "r.(?)" "p.(Asp252His)" "" "0000949462" "00017092" "70" "182" "0" "182" "0" "c.182A>C" "r.(?)" "p.(His61Pro)" "" "0000949463" "00017092" "30" "635" "-14" "635" "-13" "c.635-14_635-13dup" "r.(=)" "p.(=)" "" "0000949464" "00017092" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Gln214*)" "" "0000949465" "00017092" "10" "802" "-5" "802" "-3" "c.802-5_802-3dup" "r.spl?" "p.?" "" "0000949466" "00017092" "30" "802" "-3" "802" "-3" "c.802-3dup" "r.spl?" "p.?" "" "0000949467" "00017092" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Ter)" "" "0000959824" "00017092" "90" "634" "4" "634" "4" "c.634+4A>G" "r.(?)" "p.(?)" "" "0000965907" "00017092" "30" "-1171" "0" "-1171" "0" "c.-1171C>T" "r.(?)" "p.(=)" "" "0000965908" "00017092" "50" "-843" "0" "-843" "0" "c.-843T>C" "r.(?)" "p.(=)" "" "0000965909" "00017092" "90" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Gln17*)" "" "0000965910" "00017092" "10" "79" "35" "79" "35" "c.79+35C>T" "r.(=)" "p.(=)" "" "0000965911" "00017092" "10" "80" "-96" "80" "-96" "c.80-96A>G" "r.(=)" "p.(=)" "" "0000965912" "00017092" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "0000965913" "00017092" "30" "165" "-4" "165" "-4" "c.165-4T>C" "r.spl?" "p.?" "" "0000965914" "00017092" "30" "216" "0" "216" "0" "c.216T>C" "r.(?)" "p.(=)" "" "0000965915" "00017092" "30" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "" "0000965916" "00017092" "50" "356" "0" "356" "0" "c.356T>C" "r.(?)" "p.(Val119Ala)" "" "0000965917" "00017092" "90" "389" "0" "389" "0" "c.389G>C" "r.(?)" "p.(Arg130Pro)" "" "0000965918" "00017092" "70" "532" "0" "534" "0" "c.532_534del" "r.(?)" "p.(Tyr178del)" "" "0000965919" "00017092" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Gln245*)" "" "0000965920" "00017092" "10" "802" "-18" "802" "-18" "c.802-18C>T" "r.(=)" "p.(=)" "" "0000965921" "00017092" "10" "802" "-4" "802" "-3" "c.802-4_802-3dup" "r.spl?" "p.?" "" "0000965922" "00017092" "10" "1026" "32" "1026" "32" "c.1026+32T>G" "r.(=)" "p.(=)" "" "0000965923" "00017092" "30" "1041" "0" "1041" "0" "c.1041C>T" "r.(?)" "p.(=)" "" "0000965924" "00017092" "30" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Asp368=)" "" "0000965925" "00017092" "30" "1125" "0" "1125" "0" "c.1125T>C" "r.(?)" "p.(=)" "" "0000965926" "00017092" "50" "1130" "0" "1130" "0" "c.1130A>T" "r.(?)" "p.(Tyr377Phe)" "" "0000965927" "00017092" "30" "1161" "0" "1161" "0" "c.1161A>C" "r.(?)" "p.(=)" "" "0000965928" "00017092" "50" "1190" "0" "1190" "0" "c.1190A>G" "r.(?)" "p.(His397Arg)" "" "0000965929" "00017092" "50" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Gln399*)" "" "0000965930" "00017092" "30" "1287" "0" "1287" "0" "c.*75T>A" "r.(=)" "p.(=)" "" "0000979211" "00017092" "50" "-513" "0" "-513" "0" "c.-513G>C" "r.(?)" "p.(=)" "" "0000979212" "00017092" "10" "-510" "0" "-510" "0" "c.-510G>A" "r.(?)" "p.(=)" "" "0000979213" "00017092" "50" "-485" "0" "-477" "0" "c.-485_-477del" "r.(?)" "p.(=)" "" "0000979214" "00017092" "30" "-474" "0" "-474" "0" "c.-474G>A" "r.(?)" "p.(=)" "" "0000979215" "00017092" "30" "-367" "0" "-366" "0" "c.-367_-366insGG" "r.(?)" "p.(=)" "" "0000979216" "00017092" "30" "-366" "0" "-366" "0" "c.-366dup" "r.(?)" "p.(=)" "" "0000979217" "00017092" "50" "-354" "0" "-354" "0" "c.-354G>A" "r.(?)" "p.(=)" "" "0000979218" "00017092" "50" "-159" "0" "-159" "0" "c.-159A>G" "r.(?)" "p.(=)" "" "0000979219" "00017092" "30" "-9" "0" "-9" "0" "c.-9C>G" "r.(?)" "p.(=)" "" "0000979220" "00017092" "50" "21" "0" "21" "0" "c.21G>T" "r.(?)" "p.(Glu7Asp)" "" "0000979221" "00017092" "70" "107" "0" "107" "0" "c.107G>T" "r.(?)" "p.(Gly36Val)" "" "0000979222" "00017092" "90" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Tyr68His)" "" "0000979223" "00017092" "90" "406" "0" "406" "0" "c.406T>C" "r.(?)" "p.(Cys136Arg)" "" "0000979224" "00017092" "90" "469" "0" "469" "0" "c.469del" "r.(?)" "p.(Glu157Lysfs*2)" "" "0000979225" "00017092" "90" "635" "-2" "635" "-2" "c.635-2A>G" "r.spl?" "p.?" "" "0000979226" "00017092" "90" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Pro246Leu)" "" "0000979227" "00017092" "50" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Val249Met)" "" "0000985181" "00017092" "90" "722" "0" "723" "0" "c.722_723del" "r.(?)" "p.(Phe241*)" "7" "0000985748" "00017092" "90" "1026" "1" "1026" "1" "c.1026+1G>T" "r.spl" "p.?" "" "0000985749" "00017092" "90" "164" "1" "164" "5" "c.164+1_164+5del" "r.spl" "p.?" "" "0000985750" "00017092" "90" "634" "0" "634" "0" "c.634dup" "r.(?)" "p.(Asn212LysfsTer31)" "" "0000985751" "00017092" "90" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "" "0000985752" "00017092" "90" "403" "0" "407" "0" "c.403_407del" "r.(?)" "p.(Ile135CysfsTer43)" "" "0000985753" "00017092" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Gly44Asp)" "" "0000985754" "00017092" "90" "262" "0" "262" "0" "c.262T>C" "r.(?)" "p.(Tyr88His)" "" "0000985755" "00017092" "90" "220" "0" "220" "0" "c.220del" "r.(?)" "p.(Arg74AspfsTer25)" "" "0000985756" "00017092" "90" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Met239Thr)" "" "0000985757" "00017092" "90" "254" "-1" "254" "-1" "c.254-1G>A" "r.spl" "p.?" "" "0000985758" "00017092" "90" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "" "0000985759" "00017092" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Tyr155Cys)" "" "0000985760" "00017092" "90" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Glu242Ter)" "" "0000985761" "00017092" "90" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Tyr174His)" "" "0000985762" "00017092" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Ter)" "" "0000985763" "00017092" "90" "638" "0" "638" "0" "c.638del" "r.(?)" "p.(Pro213LeufsTer8)" "" "0000998585" "00017092" "50" "-701" "0" "-701" "0" "c.-701G>A" "r.(?)" "p.(=)" "" "0000998586" "00017092" "30" "-111" "0" "-111" "0" "c.-111G>T" "r.(?)" "p.(=)" "" "0000998587" "00017092" "90" "20" "0" "20" "0" "c.20del" "r.(?)" "p.(Glu7Glyfs*17)" "" "0000998588" "00017092" "70" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Leu25Phe)" "" "0000998589" "00017092" "70" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(His61Arg)" "" "0000998590" "00017092" "50" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(Asn69Ser)" "" "0000998591" "00017092" "90" "209" "1" "209" "1" "c.209+1G>A" "r.spl?" "p.?" "" "0000998592" "00017092" "30" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000998593" "00017092" "50" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Thr131Ala)" "" "0000998594" "00017092" "70" "506" "0" "506" "0" "c.506C>G" "r.(?)" "p.(Pro169Arg)" "" "0000998595" "00017092" "70" "694" "0" "694" "0" "c.694dup" "r.(?)" "p.(Thr232Asnfs*11)" "" "0000998596" "00017092" "50" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Val249Met)" "" "0000998597" "00017092" "50" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Lys260Arg)" "" "0000998598" "00017092" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Ter)" "" "0000998599" "00017092" "10" "1026" "121" "1026" "121" "c.1026+121C>T" "r.(=)" "p.(=)" "" "0000998600" "00017092" "30" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0000998601" "00017092" "10" "2914" "0" "2914" "0" "c.*1702G>A" "r.(=)" "p.(=)" "" "0000998602" "00017092" "10" "3157" "0" "3157" "0" "c.*1945G>A" "r.(=)" "p.(=)" "" "0000998603" "00017092" "10" "3167" "0" "3167" "0" "c.*1955T>A" "r.(=)" "p.(=)" "" "0000998604" "00017092" "10" "3385" "0" "3385" "0" "c.*2173C>T" "r.(=)" "p.(=)" "" "0001011954" "00017092" "90" "209" "0" "210" "0" "c.209_210insGT" "r.(?)" "p.(Cys71PhefsTer29)" "" "0001014671" "00017092" "50" "-2112" "0" "-2112" "0" "c.-2112C>G" "r.(?)" "p.(=)" "" "0001014672" "00017092" "30" "-1171" "0" "-1171" "0" "c.-1171C>T" "r.(?)" "p.(=)" "" "0001014673" "00017092" "30" "-1085" "0" "-1085" "0" "c.-1085C>T" "r.(?)" "p.(=)" "" "0001014674" "00017092" "10" "-903" "0" "-903" "0" "c.-903G>A" "r.(?)" "p.(=)" "" "0001014675" "00017092" "30" "-842" "0" "-842" "0" "c.-842C>T" "r.(?)" "p.(=)" "" "0001014676" "00017092" "30" "-834" "0" "-834" "0" "c.-834C>T" "r.(?)" "p.(=)" "" "0001014677" "00017092" "10" "-510" "0" "-510" "0" "c.-510G>A" "r.(?)" "p.(=)" "" "0001014678" "00017092" "30" "-460" "0" "-460" "0" "c.-460G>A" "r.(?)" "p.(=)" "" "0001014679" "00017092" "10" "-366" "0" "-365" "0" "c.-366_-365=" "r.(=)" "p.(=)" "" "0001014680" "00017092" "10" "-326" "0" "-326" "0" "c.-326=" "r.(=)" "p.(=)" "" "0001014681" "00017092" "30" "-312" "0" "-312" "0" "c.-312C>T" "r.(?)" "p.(=)" "" "0001014682" "00017092" "30" "-219" "0" "-219" "0" "c.-219C>G" "r.(?)" "p.(=)" "" "0001014683" "00017092" "30" "-121" "0" "-121" "0" "c.-121A>G" "r.(?)" "p.(=)" "" "0001014684" "00017092" "50" "-103" "0" "-103" "0" "c.-103T>C" "r.(?)" "p.(=)" "" "0001014685" "00017092" "90" "548" "0" "548" "0" "c.548dup" "r.(?)" "p.(Asn184GlufsTer6)" "" "0001014686" "00017092" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(=)" "" "0001014687" "00017092" "30" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Tyr240=)" "" "0001014688" "00017092" "70" "801" "1" "801" "1" "c.801+1G>C" "r.spl?" "p.?" "" "0001014689" "00017092" "50" "830" "0" "830" "0" "c.830C>A" "r.(?)" "p.(Thr277Lys)" "" "0001014690" "00017092" "10" "2832" "0" "2832" "0" "c.*1620T>C" "r.(=)" "p.(=)" "" "0001016650" "00017092" "90" "802" "-2" "802" "-2" "c.802-2A>G" "r.spl" "p.?" "" "0001016651" "00017092" "90" "802" "-2" "802" "-2" "c.802-2A>G" "r.spl" "p.?" "" "0001020275" "00017092" "70" "545" "0" "545" "0" "c.545T>A" "r.(?)" "p.(Leu182*)" "6" "0001022167" "00017092" "50" "101" "0" "101" "0" "c.101C>G" "r.101C>G" "p.Ala34Gly" "2" "0001025785" "00017092" "30" "-512" "0" "-512" "0" "c.-512G>T" "r.(?)" "p.(=)" "" "0001025786" "00017092" "10" "-265" "0" "-265" "0" "c.-265G>A" "r.(?)" "p.(=)" "" "0001025787" "00017092" "30" "-195" "0" "-195" "0" "c.-195G>A" "r.(?)" "p.(=)" "" "0001025788" "00017092" "30" "-52" "0" "-52" "0" "c.-52G>A" "r.(?)" "p.(=)" "" "0001025789" "00017092" "70" "170" "0" "170" "0" "c.170T>G" "r.(?)" "p.(Leu57Trp)" "" "0001025790" "00017092" "30" "210" "-7" "210" "-3" "c.210-7_210-3del" "r.spl?" "p.?" "" "0001025791" "00017092" "10" "210" "-7" "210" "-3" "c.210-7_210-3del" "r.spl?" "p.?" "" "0001025792" "00017092" "90" "216" "0" "216" "0" "c.216dup" "r.(?)" "p.(Glu73*)" "" "0001025793" "00017092" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Thr78=)" "" "0001025794" "00017092" "90" "389" "0" "389" "0" "c.389del" "r.(?)" "p.(Arg130Glnfs*4)" "" "0001025795" "00017092" "90" "959" "0" "959" "0" "c.959del" "r.(?)" "p.(Leu320*)" "" "0001025796" "00017092" "30" "1026" "8" "1026" "8" "c.1026+8A>T" "r.(=)" "p.(=)" "" "0001029897" "00017092" "90" "634" "1" "634" "1" "c.634+1G>A" "r.(?)" "p.(?)" "" "0001029904" "00017092" "90" "388" "0" "388" "0" "c.388C>G" "r.(?)" "p.(Arg130Gly)" "" "0001029905" "00017092" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Ter)" "" "0001030035" "00017092" "90" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "" "0001030036" "00017092" "90" "634" "2" "634" "2" "c.634+2T>G" "r.(?)" "p.(?)" "" "0001030148" "00017092" "90" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173His)" "" "0001038073" "00017092" "50" "-2458" "0" "-2457" "0" "c.-2458_-2457del" "r.(?)" "p.(=)" "" "0001038074" "00017092" "30" "-2279" "0" "-2279" "0" "c.-2279G>C" "r.(?)" "p.(=)" "" "0001038075" "00017092" "30" "-975" "0" "-975" "0" "c.-975G>A" "r.(?)" "p.(=)" "" "0001038076" "00017092" "30" "-460" "0" "-460" "0" "c.-460G>A" "r.(?)" "p.(=)" "" "0001038077" "00017092" "30" "-357" "0" "-357" "0" "c.-357C>T" "r.(?)" "p.(=)" "" "0001038078" "00017092" "50" "-308" "0" "-308" "0" "c.-308C>G" "r.(?)" "p.(=)" "" "0001038079" "00017092" "50" "-180" "0" "-180" "0" "c.-180C>G" "r.(?)" "p.(=)" "" "0001038080" "00017092" "30" "-152" "0" "-152" "0" "c.-152A>G" "r.(?)" "p.(=)" "" "0001038081" "00017092" "30" "-152" "0" "-152" "0" "c.-152A>G" "r.(?)" "p.(=)" "" "0001038082" "00017092" "70" "56" "0" "56" "0" "c.56A>T" "r.(?)" "p.(Asp19Val)" "" "0001038083" "00017092" "90" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Met35Val)" "" "0001038084" "00017092" "90" "403" "0" "407" "0" "c.403_407del" "r.(?)" "p.(Ile135Cysfs*43)" "" "0001038085" "00017092" "70" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Glu150Gly)" "" "0001038086" "00017092" "70" "758" "0" "758" "0" "c.758T>A" "r.(?)" "p.(Ile253Asn)" "" "0001046252" "00017092" "50" "-159" "0" "-159" "0" "c.-159A>G" "r.(?)" "p.(=)" "" "0001046253" "00017092" "90" "888" "0" "888" "0" "c.888T>A" "r.(?)" "p.(Cys296*)" "" "0001046254" "00017092" "30" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Pro354Gln)" "" "0001047161" "00017092" "30" "79" "35" "79" "35" "c.79+35C>T" "r.(?)" "p.(?)" "" "0001047162" "00017092" "30" "79" "35" "79" "35" "c.79+35C>T" "r.(?)" "p.(?)" "" "0001047170" "00017092" "70" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Pro246Leu)" "" "0001047245" "00017092" "30" "634" "160" "634" "160" "c.634+160T>G" "r.(?)" "p.(?)" "" "0001047290" "00017092" "10" "254" "-30" "254" "-30" "c.254-30dup" "r.(?)" "p.(?)" "" "0001048138" "00017092" "90" "1027" "-2" "1027" "-2" "c.1027-2A>G" "r.(?)" "p.(?)" "" "0001049123" "00017092" "30" "1026" "121" "1026" "121" "c.1026+121C>T" "r.(?)" "p.(?)" "" "0001049671" "00017092" "70" "209" "3" "209" "3" "c.209+3A>T" "r.165_209del" "p.Arg55_Leu70delinsSer" "3i" "0001053635" "00017092" "50" "-2358" "0" "-2358" "0" "c.-2358C>T" "r.(?)" "p.(=)" "" "0001053636" "00017092" "30" "-591" "0" "-591" "0" "c.-591G>A" "r.(?)" "p.(=)" "" "0001053637" "00017092" "30" "-586" "0" "-586" "0" "c.-586G>A" "r.(?)" "p.(=)" "" "0001053638" "00017092" "30" "-366" "0" "-366" "0" "c.-366dup" "r.(?)" "p.(=)" "" "0001053639" "00017092" "50" "-329" "0" "-329" "0" "c.-329C>G" "r.(?)" "p.(=)" "" "0001053640" "00017092" "50" "-299" "0" "-299" "0" "c.-299G>A" "r.(?)" "p.(=)" "" "0001053641" "00017092" "50" "-84" "0" "-84" "0" "c.-84A>G" "r.(?)" "p.(=)" "" "0001053642" "00017092" "90" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Tyr68Cys)" "" "0001053643" "00017092" "90" "204" "0" "204" "0" "c.204C>A" "r.(?)" "p.(Tyr68*)" "" "0001053644" "00017092" "10" "210" "-39" "210" "-39" "c.210-39A>G" "r.(=)" "p.(=)" "" "0001053645" "00017092" "10" "254" "-30" "254" "-30" "c.254-30dup" "r.(=)" "p.(=)" "" "0001053646" "00017092" "70" "331" "0" "331" "0" "c.331T>A" "r.(?)" "p.(Trp111Arg)" "" "0001053647" "00017092" "90" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Pro246Leu)" "" "0001053648" "00017092" "10" "802" "-51" "802" "-14" "c.802-51_802-14del" "r.(=)" "p.(=)" "" "0001053649" "00017092" "10" "802" "-51" "802" "-14" "c.802-51_802-14del" "r.(=)" "p.(=)" "" "0001053650" "00017092" "30" "802" "-34" "802" "-34" "c.802-34C>A" "r.(=)" "p.(=)" "" "0001053651" "00017092" "90" "900" "0" "901" "0" "c.900_901insCC" "r.(?)" "p.(Asp301Profs*7)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 750 "{{screeningid}}" "{{variantid}}" "0000003197" "0000021746" "0000036688" "0000063813" "0000036689" "0000063814" "0000036690" "0000063815" "0000036691" "0000063816" "0000036692" "0000063817" "0000036693" "0000063818" "0000036694" "0000063819" "0000036695" "0000063820" "0000036696" "0000063821" "0000036697" "0000063822" "0000036698" "0000063823" "0000046403" "0000073927" "0000046404" "0000073928" "0000047429" "0000076125" "0000047430" "0000076126" "0000047986" "0000076764" "0000058997" "0000089795" "0000058998" "0000089796" "0000058999" "0000089797" "0000059000" "0000089798" "0000059002" "0000089799" "0000059003" "0000089800" "0000081976" "0000134747" "0000081978" "0000134748" "0000090857" "0000148986" "0000090858" "0000148987" "0000153562" "0000352716" "0000153593" "0000352808" "0000153594" "0000352809" "0000153595" "0000352810" "0000153596" "0000352811" "0000153597" "0000352812" 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