### LOVD-version 3000-26c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMAD4) # 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}}" "SMAD4" "SMAD family member 4" "18" "q21.1" "unknown" "LRG_318" "UD_132119118795" "" "https://www.LOVD.nl/SMAD4" "" "1" "6770" "4089" "600993" "1" "1" "1" "1" "Eestablishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nAlias DPC4" "" "g" "http://databases.lovd.nl/shared/refseq/SMAD4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-10-26 14:45:29" "00000" "2021-02-08 18:36:18" ## 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}}" "00019407" "SMAD4" "SMAD family member 4" "002" "NM_005359.5" "" "NP_005350.1" "" "" "" "-538" "8234" "1659" "48556583" "48611412" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{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 (CRC)" "" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2015-06-06 23:16:05" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00314" "polyposis" "polyposis" "" "" "" "" "" "00006" "2014-01-27 14:59:09" "" "" "00469" "HPS" "Hermansky-Pudlak syndrome (HPS)" "" "203300" "" "" "" "00006" "2014-07-23 09:19:23" "00006" "2015-12-07 07:11:25" "00681" "cancer, pancreatic" "cancer, pancreatic" "" "260350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:24:29" "01354" "MYHRS" "Myhre syndrome (MYHRS)" "" "139210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-09-09 15:16:11" "01515" "JPS" "polyposis syndrome, juvenile (JPS)" "" "174900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-09-09 15:17:37" "01516" "JPHT" "polyposis, juvenile/hereditary hemorrhagic telangiectasia syndrome (JPHT)" "" "175050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-09-09 15:16:59" "01575" "HHT" "telangiectasia hemorrhagic, hereditary (HHT)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-11 15:46:12" "04280" "FAP" "adenomatous polyposis, familial (FAP)" "" "" "" "" "" "00006" "2015-06-06 23:26:41" "" "" "05488" "SSPCS" "syndrome, cancer, polyposis, sessile serrated (SSPCS)" "" "617108" "" "autosomal dominant" "" "00006" "2018-10-26 14:52:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SMAD4" "00681" "SMAD4" "01354" "SMAD4" "01515" "SMAD4" "01516" ## Individuals ## Do not remove or alter this header ## ## Count = 509 "{{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}}" "00003295" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" "" "00037150" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037151" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037152" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037153" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00049794" "" "" "" "13" "" "00006" "{PMID:Howe 1998:9582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}" "5-generation family, 13 affected, 4 unaffected at-risk carriers" "" "no" "United States" "" "0" "" "" "white, Iowa" "" "00049801" "" "" "" "13" "" "00006" "{PMID:Howe 1998:9582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}" "family" "" "no" "United States" "" "0" "" "" "white, Mississipi" "" "00049802" "" "" "" "13" "" "00006" "{PMID:Howe 1998:9582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}" "family" "" "no" "Finland" "" "0" "" "" "white" "" "00049803" "" "" "" "13" "" "00006" "{PMID:Howe 1998:9582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}" "sporadic patient" "" "" "United States" "" "0" "" "" "" "" "00049804" "" "" "" "13" "" "00006" "{PMID:Howe 1998:9582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}" "2-generation family, 1 affected, unaffected parents/4 sibs" "" "" "United States" "" "0" "" "" "" "" "00049805" "" "" "" "1" "" "00006" "{PMID:Shikata 2005:15754356}, {DOI:Shikata 2005:10.1002/ajmg.a.30482}" "" "F" "?" "Japan" "" "0" "" "" "" "" "00049924" "" "" "" "1" "" "00004" "{PMID:Houlston 1998:9811934}, {DOI:Houlston 1998:10.1093/hmg/7.12.1907}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00049925" "" "" "" "1" "" "00004" "{PMID:Friedl 1999:10398437}, {PMID:Friedl 2002:12136244}" "" "F" "" "Germany" "" "0" "" "" "" "103984370-FJP-15/12136244-JUV-15" "00049926" "" "" "" "1" "" "00004" "{PMID:Roth 1999:10441006}" "" "" "" "(Finland)" "" "0" "" "" "" "" "00049927" "" "" "" "1" "" "00004" "{PMID:Roth 1999:10441006}" "" "" "" "Finland" "" "0" "" "" "" "" "00049928" "" "" "" "1" "" "00004" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "F" "" "" "" "0" "" "" "" "" "00049929" "" "" "" "1" "" "00004" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "M" "" "" "" "0" "" "" "" "" "00049930" "" "" "" "1" "" "00004" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "M" "" "" "" "0" "" "" "" "" "00049931" "" "" "" "1" "" "00004" "{PMID:Kim 2000:10797267}, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o}" "" "M" "" "Korea" "" "0" "" "" "" "" "00049932" "" "" "" "1" "" "00004" "{PMID:Kim 2000:10797267}, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o}" "" "F" "" "Korea" "" "0" "" "" "" "" "00049933" "" "" "" "1" "" "00004" "{PMID:Kim 2000:10797267}, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o}" "" "F" "" "Korea" "" "0" "" "" "" "" "00049934" "" "" "" "1" "" "00004" "{PMID:Woodford-Richens 2001:11583957}, {DOI:Woodford-Richens 2001:10.1016/S0002.9440(10)62516-3}" "" "" "" "" "" "0" "" "" "" "" "00049935" "" "" "" "1" "" "00004" "{PMID:Woodford-Richens 2001:11583957}, {DOI:Woodford-Richens 2001:10.1016/S0002.9440(10)62516-3}" "" "" "" "" "" "0" "" "" "" "" "00049937" "" "" "" "1" "" "00004" "{PMID:Friedl 2002:12136244}" "adopted" "" "" "Germany" "" "0" "" "" "" "12136244-JUV-29" "00049938" "" "" "" "1" "" "00004" "{PMID:Friedl 2002:12136244}" "" "" "" "Germany" "" "0" "" "" "" "12136244-JUV-36" "00049939" "" "" "" "1" "" "00004" "{PMID:Friedl 2002:12136244}" "" "" "" "Germany" "" "0" "" "" "" "12136244-JUV-37" "00049940" "" "" "" "1" "" "00006" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "United States" "" "0" "" "" "" "JP2" "00049941" "" "" "" "1" "" "00006" "{PMID:Sayed 2002:12417513}" "" "" "" "United States" "" "0" "" "" "" "JP3" "00049942" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049943" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049944" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049945" "" "" "" "1" "" "00004" "{PMID:Gallione 2004:15031030}" "" "" "" "" "" "0" "" "" "" "15031030-Fam230" "00049946" "" "" "" "4" "" "00004" "{PMID:Gallione 2004:15031030}" "3-generation family, 4 affected heterozygous carriers" "" "" "" "" "0" "" "" "" "15031030-Fam211" "00049947" "" "" "" "1" "" "00004" "{PMID:Gallione 2004:15031030}" "" "" "" "" "" "0" "" "" "" "15031030-Ind2616" "00049948" "" "" "" "1" "" "00004" "{PMID:Gallione 2004:15031030}" "" "" "" "" "" "0" "" "" "" "15031030-Fam236" "00049949" "" "" "" "2" "" "00004" "{PMID:Gallione 2004:15031030}" "2-generation family, 2 affected heterozygous carriers" "" "" "" "" "0" "" "" "" "15031030-Fam25" "00049950" "" "" "" "1" "" "00004" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049951" "" "" "" "1" "" "00004" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049952" "" "" "" "1" "" "00004" "{PMID:Lamireau 2005:15990641}, {DOI:Lamireau 2005:10.1097/01.mpg.0000151762.51287.7d}" "" "F" "" "(France)" "" "0" "" "" "" "" "00049953" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "" "" "00049954" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "" "" "00049955" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "" "" "00049956" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "" "" "00049957" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "" "" "00049958" "" "" "" "1" "" "00004" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049959" "" "" "" "1" "" "00004" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049960" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049961" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049962" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049963" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049964" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049965" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049966" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049967" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049968" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049969" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049970" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049971" "" "" "" "1" "" "00004" "{PMID:Gallione 2006:16613914}" "" "" "" "United States" "" "0" "" "" "" "16613914-UP015" "00049972" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat51" "00049973" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat44" "00049974" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat71" "00049975" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat78" "00049976" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat57" "00049977" "" "" "" "1" "" "00004" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00049978" "" "" "" "1" "" "00004" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00049979" "" "" "" "1" "" "00004" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00049980" "" "" "" "1" "" "00004" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00049981" "" "" "" "1" "" "00004" "{PMID:Pintiliciuc 2008:18355998}, {DOI:Pintiliciuc 2008:10.1016/j.gcb.2007.11.008}" "" "F" "" "(France)" "" "0" "" "" "" "" "00049982" "" "" "" "1" "" "00004" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049983" "" "" "" "1" "" "00004" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049984" "" "" "" "1" "" "00004" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049985" "" "" "" "1" "" "00004" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049986" "" "" "" "1" "" "00004" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049987" "" "" "" "1" "" "00004" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049988" "" "" "" "1" "" "00004" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049989" "" "" "" "1" "" "00004" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049990" "" "" "" "1" "" "00004" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049991" "" "" "" "1" "" "00004" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049992" "" "" "" "1" "" "00004" "{PMID:Iyer 2010:20685751}" "" "M" "" "United States" "" "0" "" "" "" "20685751-Pat" "00049993" "" "" "" "1" "" "00004" "{PMID:Tram 2011:21835029}, {DOI:Tram 2011:10.1185/bcr2926}" "" "" "" "(Canada)" "" "0" "" "" "" "" "00049994" "" "" "" "1" "" "00006" "{PMID:Nasim 2011:21898662}, {DOI:Nasim 2011:10.1002/humu.21605}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00049995" "" "" "" "1" "" "00233" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049996" "" "" "" "1" "" "00233" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "" "" "00049997" "" "" "" "3" "" "00233" "{PMID:Gallione 2004:15031030}" "3-generation family, 3 affected heterozygous carriers" "" "" "" "" "0" "" "" "" "15031030-Fam153" "00049998" "" "" "" "1" "" "00233" "{PMID:Houlston 1998:9811934}, {DOI:Houlston 1998:10.1093/hmg/7.12.1907}" "" "" "" "" "" "0" "" "" "" "" "00049999" "" "" "" "2" "" "00233" "{PMID:Gallione 2004:15031030}" "2-generation family, 2 affected heterozygous carriers" "" "" "" "" "0" "" "" "" "15031030-Fam234" "00050000" "" "" "" "1" "" "00233" "{PMID:Caputo 2012:22243968}, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00050001" "" "" "" "1" "" "00233" "{PMID:Le Goff 2011:22158539}" "" "" "" "" "" "0" "" "" "" "" "00050002" "" "" "" "1" "" "00233" "{PMID:Caputo 2012:22243968}, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "F" "" "(Italy)" "" "0" "" "" "" "" "00050003" "" "" "" "1" "" "00233" "{PMID:Le Goff 2011:22158539}" "" "" "" "" "" "0" "" "" "" "" "00050004" "" "" "" "1" "" "00233" "{PMID:Le Goff 2011:22158539}" "" "" "" "" "" "0" "" "" "" "" "00050395" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United 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"" "" "" "" "0" "" "" "" "" "00264172" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264173" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264174" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264175" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264176" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264177" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264178" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264179" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264180" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264181" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264182" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264183" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264184" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264185" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264186" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264187" "" "" "" "1" "" "01917" "" "" "M" "" "" "62y" "0" "" "" "" "" "00264188" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264189" "" "" "" "1" "" "01917" "" "" "F" "" "" "39y" "0" "" "" "" "" "00264190" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264191" "" "" "" "1" "" "01917" "" "" "F" "" "" "52y" "0" "" "" "" "" "00264192" "" "" "" "1" "" "01917" "" "" "M" "" "" "44y" "0" "" "" "" "" "00264193" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264194" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264195" "" "" "" "1" "" "01917" "" "" "M" "" "" "62y" "0" "" "" "" "" "00264196" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264197" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264198" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264199" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264200" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264201" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264202" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264203" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264204" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264205" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264206" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264207" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264208" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264209" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264210" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264211" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264212" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264213" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264214" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264215" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264216" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264217" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264218" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264219" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264220" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264221" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264222" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264223" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264224" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264225" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264226" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264227" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264228" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264229" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264230" "" "" "" "1" "" "01917" "" "" "F" "" "" "84y" "0" "" "" "" "" "00264231" "" "" "" "1" "" "01917" "" "" "F" "" "" "38y" "0" "" "" "" "" "00264232" "" "" "" "1" "" "01917" "" "" "M" "" "" "52y" "0" "" "" "" "" "00264233" "" "" "" "1" "" "01917" "" "" "F" "" "" "41y" "0" "" "" "" "" "00264234" "" "" "" "1" "" "01917" "" "" "M" "" "" "36y" "0" "" "" "" "" "00264235" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264236" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264237" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264238" "" "" "" "1" "" "01917" "" "" "F" "" "" "" "0" "" "" "" "" "00264239" "" "" "" "1" "" "01917" "" "" "M" "" "" "" "0" "" "" "" "" "00264240" "" "" "" "1" "" "01917" "" "" "" "" "" "" "0" "" "" "" "" "00264241" "" "" "" "1" "" "01917" "" "" "F" "" "" "52y" "0" "" "" "" "" "00264242" "" "" "" "1" "" "01917" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "M" "" "(United States)" "" "0" "" "" "(american)" "1" "00264243" "" "" "" "1" "" "01917" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "M" "" "(United States)" "" "0" "" "" "(american)" "2" "00264244" "" "" "" "1" "" "01917" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "M" "" "(United States)" "" "0" "" "" "(american)" "3" "00264245" "" "" "" "1" "" "01917" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "F" "" "(United States)" "" "0" "" "" "(american)" "9" "00264246" "" "" "" "1" "" "01917" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "F" "" "(United States)" "" "0" "" "" "(american)" "11" "00264247" "" "" "" "1" "" "01917" "{DOI:Nasim 2011:10.1002/humu.21605}" "" "" "" "" "" "0" "" "" "" "" "00264248" "" "" "" "1" "" "01917" "{DOI:Nasim 2011:10.1002/humu.21605}" "" "" "" "" "" "0" "" "" "" "" "00264249" "" "" "" "1" "" "01917" "{DOI:Martin-Morales 2018:10.1371/journal.pone.0203885}" "" "" "" "" "" "0" "" "" "" "987" "00264250" "" "" "" "1" "" "01917" "{DOI:Pantelis 2016:10.1007/s00384-016-2656-9}" "" "F" "" "" "" "0" "" "" "" "case 1" "00264251" "" "" "" "1" "" "01917" "Banks 2017; American Journal of Gastroenterology; 112; Supplement 1; S1101" "" "F" "" "(United States)" "" "0" "" "" "(american)" "patient" "00264252" "" "" "" "1" "" "01917" "Banks 2017; American Journal of Gastroenterology; 112; Supplement 1; S1101" "" "F" "" "(United States)" "" "0" "" "" "(american)" "daughter" "00264253" "" "" "" "1" "" "01917" "{DOI:Karnsakul 2017:10.1007/s10456-017-9584-3}" "" "F" "" "(United States)" "" "0" "" "" "(american)" "patient" "00264254" "" "" "" "1" "" "01917" "{DOI:Brusgaard 2017:10.1007/s10456-017-9584-3}" "" "" "" "(Denmark)" "" "0" "" "" "(european)" "patient" "00264255" "" "" "" "1" "" "01917" "{DOI:Brusgaard 2017:10.1007/s10456-017-9584-3}" "" "F" "" "(Denmark)" "" "0" "" "" "(european)" "daughter" "00264256" "" "" "" "1" "" "01917" "Hao et al 2017, IJCEM, IJCEM0043096" "" "M" "" "(China)" "" "0" "" "" "(asian)" "patient" "00264257" "" "" "" "1" "" "01917" "{DOI:Rohlin 2016:10.1007/s10689-016-9934-0}" "" "" "" "(Sweden)" "" "0" "" "" "(european)" "I:32" "00264258" "" "" "" "1" "" "01917" "{DOI:Stoffel 2018:10.1053/j.gastro.2017.11.004}" "" "F" "" "(United States)" "" "0" "" "" "(american)" "UM case #2" "00264259" "" "" "" "1" "" "01917" "{DOI:Stoffel 2018:10.1053/j.gastro.2017.11.004}" "" "F" "" "(United States)" "" "0" "" "" "(american)" "UM case #1" "00264260" "" "" "" "1" "" "01917" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "" "" "(United States)" "" "0" "" "" "(american)" "I:2" "00264261" "" "" "" "1" "" "01917" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "" "" "(United States)" "" "0" "" "" "(american)" "II:3" "00264262" "" "" "" "1" "" "01917" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "" "" "(United States)" "" "0" "" "" "(american)" "II:4" "00264263" "" "" "" "1" "" "01917" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "" "" "(United States)" "" "0" "" "" "(american)" "II:5" "00264264" "" "" "" "1" "" "01917" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "" "" "(United States)" "" "0" "" "" "(american)" "III:2" "00264265" "" "" "" "1" "" "01917" "{PMID:Szigeti 2012:23090737}" "" "F" "" "(United States)" "" "0" "" "" "(american)" "Patient 1" "00264266" "" "" "" "1" "" "01917" "{PMID:Szigeti 2012:23090737}" "" "M" "" "(United States)" "" "0" "" "" "(american)" "Patient 2" "00264267" "" "" "" "1" "" "01917" "{DOI:Teekakirikul 2012:10.1002/ajmg.a.35659}" "" "M" "" "(United States)" "" "0" "" "" "(caucasian)" "Patient 1" "00264268" "" "" "" "1" "" "01917" "{DOI:Teekakirikul 2012:10.1002/ajmg.a.35659}" "" "F" "" "(United States)" "" "0" "" "" "caucasian" "Patient 2" "00264269" "" "" "" "1" "" "01917" "{DOI:Need 2012:10.1136/jmedgenet-2012-100819£" "" "M" "" "(United States)" "" "0" "" "" "european-american" "Trio 3" "00291978" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291979" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291980" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291981" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 505 "{{individualid}}" "{{diseaseid}}" "00037150" "00198" "00037151" "01515" "00037152" "00198" "00037153" "01515" "00049794" "01515" "00049801" "01515" "00049802" "01515" "00049803" "01515" "00049804" "01515" "00049805" "01515" "00049924" "01515" "00049925" "01515" "00049926" "01515" "00049927" "01515" "00049928" "01515" "00049929" "01515" "00049930" "01515" "00049931" "01515" "00049932" "01515" "00049933" "01515" "00049934" "01515" "00049935" "01515" "00049937" "01515" "00049938" "01515" "00049939" "01515" "00049940" "01515" "00049941" "01515" "00049942" "01515" "00049943" "01515" "00049944" "01515" "00049945" "01516" "00049946" "01516" "00049947" "01516" "00049948" "01516" "00049949" "01516" "00049950" "01515" "00049951" "01515" "00049952" "01515" "00049953" "01515" "00049954" "01515" "00049955" "01515" "00049956" "01515" "00049957" "01515" "00049958" "01515" "00049959" "01515" "00049960" "01515" "00049961" "01515" "00049962" "01515" "00049963" "01515" "00049964" "01515" "00049965" "01515" "00049966" "01515" "00049967" "01515" "00049968" "01515" "00049969" "01515" "00049970" "01515" "00049971" "01516" "00049972" "01515" "00049973" "01515" "00049974" "01515" "00049975" "01515" "00049976" "01515" "00049977" "01515" "00049978" "01515" "00049979" "01515" "00049980" "01515" "00049981" "01515" "00049982" "01515" "00049983" "01515" "00049984" "01516" "00049985" "01516" "00049986" "01516" "00049987" "01516" "00049988" "01516" "00049989" "01516" "00049990" "01516" "00049991" "01516" "00049992" "01516" "00049993" "00198" "00049994" "00198" "00049995" "01515" "00049996" "01515" "00049997" "01516" "00049998" "01515" "00049999" "01516" "00050000" "01354" "00050001" "01354" "00050002" "01354" "00050003" "01354" "00050004" "01354" "00050395" "00198" "00050538" "00198" "00090779" "00091" "00090780" "00091" "00090781" "00091" "00090782" "00091" "00090783" "00091" "00090784" "00091" "00090785" "00000" "00090786" "00091" "00105921" "01515" "00183541" "01515" "00183542" "05488" "00183543" "04280" "00218360" "00091" "00218663" "01515" "00218664" "01515" "00218665" "01515" "00218666" "01575" "00218667" "01575" "00218668" "01515" "00218669" "01515" "00218670" "01575" "00218671" "01575" "00218672" "01575" "00218673" "01515" "00218674" "01515" "00218675" "01515" "00218676" "01515" "00218677" "01515" "00218678" "01515" "00218679" "00314" "00218680" "00314" "00218681" "00314" "00218682" "01575" "00218683" "01575" "00218684" "01515" "00218685" "01515" "00218686" "01515" "00218687" "01515" "00218688" "01515" "00218689" "01515" "00218690" "01515" "00218691" "01515" "00218692" "01515" "00218693" "01515" "00218694" "01515" "00218695" "01515" "00218696" "01515" "00218697" "01515" "00218698" "01515" "00218699" "01515" "00218700" "01515" "00218701" "01515" "00218702" "01575" "00218703" "01575" "00218704" "01575" "00218705" "01575" "00218706" "01575" "00218707" "00198" "00218708" "01354" "00218709" "01354" "00218710" "01354" "00218711" "01354" "00218712" "01354" "00218713" "01354" "00218714" "01515" "00218715" "01515" "00218716" "01515" "00218717" "01515" "00218718" "01515" "00218719" "01515" "00218720" "01515" "00218721" "01515" "00218722" "01575" "00218723" "01515" "00218724" "00314" "00218725" "00314" "00218726" "01515" "00218727" "01515" "00218728" "01515" "00218729" "01515" "00218730" "01575" "00218731" "01575" "00218732" "01515" "00218733" "01515" "00218734" "01575" "00218735" "00198" "00218736" "00314" "00218737" "00198" "00218738" "00314" "00218739" "00314" "00218740" "01515" "00218741" "01515" "00218742" "01515" "00218743" "01515" "00218744" "01515" "00218745" "01515" "00218746" "01515" "00218747" "01515" "00218748" "01515" "00218749" "01515" "00218750" "01515" "00218751" "01515" "00218752" "01515" "00218753" "00469" "00218754" "00091" "00218755" "01515" "00218756" "01515" "00218757" "01515" "00218758" "01515" "00218759" "01515" "00218760" "01515" "00218761" "01515" "00218762" "01515" "00218763" "01515" "00218764" "01515" "00218765" "01515" "00218766" "00091" "00218767" "01515" "00218768" "01515" "00218769" "01515" "00218770" "01515" "00218771" "01515" "00218772" "00091" "00218773" "01516" "00218774" "01515" "00218775" "01575" "00218776" "01575" "00218777" "01515" "00218778" "01575" "00218779" "01515" "00218780" "00314" "00218781" "00314" "00218782" "01575" "00218783" "00314" "00218784" "01515" "00218785" "01515" "00218786" "01515" "00218787" "01515" "00218788" "01515" "00218789" "01515" "00218790" "01515" "00218791" "01515" "00218792" "01515" "00218793" "01515" "00218794" "01515" "00218795" "00314" "00218796" "01515" "00218797" "01515" "00218798" "01515" "00218799" "01515" "00218800" "01515" "00218801" "01515" "00218802" "01515" "00218803" "01515" "00218804" "01515" "00218805" "01515" "00218806" "01515" "00218807" "01516" "00218808" "01516" "00218809" "01515" "00218810" "01575" "00218811" "01575" "00218812" "01516" "00218813" "01575" "00218814" "01575" "00218815" "00314" "00218816" "01516" "00218817" "01515" "00218818" "01515" "00218819" "01515" "00218820" "01515" "00218821" "01575" "00218822" "01575" "00218823" "01575" "00218824" "01575" "00218825" "01516" "00218826" "01515" "00218827" "01515" "00218828" "01515" "00218829" "01515" "00218830" "01515" "00218831" "01515" "00218832" "01515" "00218833" "01515" "00218834" "01515" "00218835" "01515" "00218836" "01515" "00218837" "01515" "00218838" "01515" "00218839" "01515" "00218840" "01515" "00218841" "00314" "00218842" "01515" "00218843" "01575" "00218844" "01575" "00218845" "01575" "00218846" "01575" "00218847" "01575" "00218848" "01515" "00218849" "01575" "00218850" "01575" "00218851" "01575" "00218852" "00314" "00218853" "00314" "00218854" "01515" "00218855" "01515" "00218856" "01515" "00218857" "01515" "00218858" "01515" "00218859" "01515" "00218860" "01516" "00218861" "01515" "00218862" "01515" "00218863" "01515" "00218864" "01515" "00218865" "01515" "00218866" "01515" "00218867" "01515" "00218868" "01515" "00218869" "01515" "00218870" "01515" "00218871" "01515" "00218872" "01515" "00218873" "01515" "00218874" "01515" "00218875" "01515" "00218876" "01515" "00218877" "01515" "00218878" "01515" "00218879" "01515" "00218880" "01515" "00218881" "01515" "00218882" "01515" "00218883" "01515" "00218884" "01515" "00218885" "01515" "00218886" "01515" "00218887" "01515" "00218888" "01515" "00218889" "01515" "00218890" "01515" "00218891" "01515" "00218892" "01515" "00218893" "01515" "00218894" "01515" "00218895" "01515" "00218896" "01515" "00218897" "01515" "00218898" "00314" "00218899" "00314" "00218900" "00314" "00218901" "00314" "00218902" "00314" "00218903" "01515" "00218904" "01575" "00218905" "01575" "00218906" "01575" "00218907" "01575" "00218908" "01575" "00218909" "01575" "00218910" "01575" "00218911" "01575" "00218912" "01515" "00218913" "01515" "00218914" "00314" "00218915" "01515" "00218916" "01515" "00218917" "01515" "00218918" "01515" "00218919" "01515" "00218920" "01515" "00218921" "01515" "00218922" "01515" "00218923" "01515" "00218924" "01515" "00218925" "00198" "00218926" "00198" "00218927" "00198" "00218931" "01515" "00218932" "01515" "00218933" "01515" "00218947" "01515" "00218948" "01515" "00218949" "01515" "00218950" "01515" "00218951" "01515" "00218952" "01515" "00218953" "01515" "00218954" "01515" "00218955" "01515" "00218956" "01515" "00218957" "01515" "00218958" "01515" "00218959" "01515" "00218960" "01515" "00218961" "01515" "00218962" "01515" "00218963" "01515" "00218964" "01515" "00264160" "01515" "00264161" "01515" "00264162" "01515" "00264163" "01515" "00264164" "01515" "00264165" "01515" "00264166" "01515" "00264167" "01515" "00264168" "01515" "00264169" "01515" "00264170" "01515" "00264171" "01515" "00264172" "01515" "00264173" "01515" "00264174" "01515" "00264175" "01515" "00264176" "01515" "00264177" "01515" "00264178" "01515" "00264179" "01515" "00264180" "01515" "00264181" "01515" "00264182" "01515" "00264183" "01515" "00264184" "01515" "00264185" "01515" "00264186" "01515" "00264187" "01515" "00264188" "01515" "00264189" "01515" "00264190" "01515" "00264191" "01515" "00264192" "01515" "00264193" "01515" "00264194" "01515" "00264195" "01515" "00264196" "01515" "00264197" "01515" "00264198" "01515" "00264199" "01515" "00264200" "01515" "00264201" "01515" "00264202" "01515" "00264203" "01515" "00264204" "01515" "00264205" "01515" "00264206" "01515" "00264207" "01515" "00264208" "01515" "00264209" "01515" "00264210" "01515" "00264211" "01515" "00264212" "01515" "00264213" "01515" "00264214" "01515" "00264215" "01515" "00264216" "01515" "00264217" "01515" "00264218" "01515" "00264219" "01515" "00264220" "01515" "00264221" "01515" "00264222" "01515" "00264223" "01515" "00264224" "01515" "00264225" "01515" "00264226" "01515" "00264227" "01515" "00264228" "01515" "00264229" "01515" "00264230" "01515" "00264231" "01515" "00264232" "01515" "00264233" "01515" "00264234" "01515" "00264235" "01515" "00264236" "01515" "00264237" "01515" "00264238" "01515" "00264239" "01515" "00264240" "01515" "00264241" "01515" "00264242" "00198" "00264243" "00198" "00264244" "00198" "00264245" "01515" "00264246" "01515" "00264247" "00198" "00264248" "00198" "00264249" "00091" "00264250" "01515" "00264251" "00198" "00264252" "01515" "00264253" "01516" "00264254" "01516" "00264255" "01516" "00264256" "00198" "00264257" "00091" "00264258" "01515" "00264259" "00198" "00264260" "01515" "00264261" "01515" "00264262" "01515" "00264263" "01515" "00264264" "01515" "00264265" "01516" "00264266" "01516" "00264267" "01516" "00264268" "01516" "00264269" "01354" "00291978" "00198" "00291979" "00198" "00291980" "00198" "00291981" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00314, 00469, 00681, 01354, 01515, 01516, 01575, 04280, 05488 ## Count = 492 "{{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/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000036561" "01515" "00049794" "00006" "Familial, autosomal dominant" "" "hamartomatous polyps, gastrointestinal cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036568" "01515" "00049801" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036569" "01515" "00049802" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036570" "01515" "00049803" "00006" "Isolated (sporadic)" "" "colonic/gastric JP; father gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036571" "01515" "00049804" "00006" "Isolated (sporadic)" "" "6y 30-40 colonic juvenile polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036572" "00198" "00037152" "01164" "Unknown" "" "suspected Morbus Osler" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036573" "00198" "00037150" "01164" "Unknown" "" "suspected Morbus Osler" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036574" "01515" "00037153" "01164" "Unknown" "" "suspected juvenile polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036575" "01515" "00037151" "01164" "Unknown" "" "Juvenile Polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037007" "00198" "00050395" "00006" "Isolated (sporadic)" "" "cognitive impairment, short stature" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037150" "00198" "00050538" "00006" "Isolated (sporadic)" "" "microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083829" "01515" "00105921" "01741" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144245" "01515" "00183541" "02940" "Unknown" "" "Juvenile polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144246" "05488" "00183542" "02940" "Unknown" "" "Serrated polyposis syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144247" "04280" "00183543" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155719" "00198" "00207947" "01164" "Unknown" "" "HP:0030255 (Large intestinal polyposis); HP:0011024 (Abnormality of the gastrointestinal tract); HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155720" "00198" "00207948" "01164" "Unknown" "" "HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166802" "00091" "00218360" "00770" "Unknown" "" "BRAF V600E wild-type; MLH1 promoter methylation was DETECTED in tumour DNA however no normal tissue was available for testing" "" "26y" "" "MLH1-;PMS2-" "" "" "" "" "" "" "" "" "Stage III colorectal cancer" "" "0000167139" "01515" "00049940" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "juvenile polyposis syndrome" "" "0000167140" "01515" "00049941" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "juvenile polyposis syndrome" "" "0000167141" "00198" "00049994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension" "" "0000167142" "01515" "00049924" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167143" "01515" "00049926" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167144" "01515" "00049927" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167145" "01515" "00049928" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167146" "01515" "00049929" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167147" "01515" "00049930" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167148" "01515" "00049931" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167149" "01515" "00049932" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167150" "01515" "00049933" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167151" "01515" "00049934" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167152" "01515" "00049935" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167153" "01515" "00049942" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167154" "01515" "00049943" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167155" "01516" "00049944" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167156" "01515" "00049950" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167157" "01515" "00049951" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167158" "01515" "00049952" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167159" "01515" "00049953" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167160" "01515" "00049954" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167161" "01515" "00049955" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167162" "01515" "00049956" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167163" "01515" "00049957" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167164" "01515" "00049960" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167165" "01515" "00049961" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167166" "01515" "00049962" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167167" "01515" "00049963" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167168" "01515" "00049964" "00008" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167169" "01515" "00049965" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167170" "01515" "00049966" "00008" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167171" "01515" "00049967" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167172" "01515" "00049968" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167173" "01515" "00049969" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167174" "01516" "00049970" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167175" "01515" "00049977" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167176" "01515" "00049978" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167177" "01515" "00049979" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167178" "01515" "00049980" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167179" "01515" "00049981" "00008" "Unknown" "" "GJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167180" "01515" "00049982" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167181" "01516" "00049983" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167182" "01516" "00049984" "00008" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167183" "01516" "00049985" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167184" "01516" "00049986" "00008" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167185" "01516" "00049987" "00008" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167186" "01516" "00049988" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167187" "01516" "00049989" "00008" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167188" "01516" "00049990" "00008" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167189" "01516" "00049991" "00008" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167190" "00198" "00049993" "00008" "Unknown" "" "breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167191" "01515" "00049995" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167192" "01516" "00049996" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167193" "01516" "00049998" "00008" "Unknown" "" "JPHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167194" "01354" "00050000" "00008" "Unknown" "" "MYHRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167195" "01354" "00050002" "00008" "Unknown" "" "MYHRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167196" "01515" "00049958" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167197" "01515" "00049959" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167199" "01515" "00218663" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167200" "01515" "00218664" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167201" "01515" "00218665" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167202" "01575" "00218666" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167203" "01575" "00218667" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167204" "01515" "00218668" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167205" "01515" "00218669" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167206" "01575" "00218670" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167207" "01575" "00218671" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167208" "01575" "00218672" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167209" "01515" "00218673" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167210" "01515" "00218674" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167211" "01515" "00218675" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167212" "01515" "00218676" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167213" "01515" "00218677" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167214" "01515" "00218678" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167215" "00314" "00218679" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167216" "00314" "00218680" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167217" "00314" "00218681" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167218" "01575" "00218682" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167219" "01575" "00218683" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167220" "01515" "00218684" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167221" "01515" "00218685" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167222" "01515" "00218686" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167223" "01515" "00218687" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167224" "01515" "00218688" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167225" "01515" "00218689" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167226" "01515" "00218690" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167227" "01515" "00218691" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167228" "01515" "00218692" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167229" "01515" "00218693" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167230" "01515" "00218694" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167231" "01515" "00218695" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167232" "01515" "00218696" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167233" "01515" "00218697" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167234" "01515" "00218698" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167235" "01515" "00218699" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167236" "01515" "00218700" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167237" "01515" "00218701" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167238" "01575" "00218702" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167239" "01575" "00218703" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167240" "01575" "00218704" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167241" "01575" "00218705" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167242" "01575" "00218706" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167243" "00198" "00218707" "00645" "Unknown" "" "pulmonary arterial hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167244" "01354" "00218708" "00645" "Unknown" "" "MYHRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167245" "01354" "00218709" "00645" "Unknown" "" "MYHRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167246" "01354" "00218710" "00645" "Unknown" "" "MYHRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167247" "01354" "00218711" "00645" "Unknown" "" "MYHRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167248" "01354" "00218712" "00645" "Unknown" "" "MYHRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167249" "01354" "00218713" "00645" "Unknown" "" "MYHRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167250" "01515" "00218714" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167251" "01515" "00218715" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167252" "01515" "00218716" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167253" "01515" "00218717" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167254" "01515" "00218718" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167255" "01515" "00218719" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167256" "01515" "00218720" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167257" "01515" "00218721" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167258" "01575" "00218722" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167259" "01515" "00218723" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167260" "00314" "00218724" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167261" "00314" "00218725" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167262" "01515" "00218726" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167263" "01515" "00218727" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167264" "01515" "00218728" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167265" "01515" "00218729" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167266" "01575" "00218730" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167267" "01575" "00218731" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167268" "01515" "00218732" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167269" "01515" "00218733" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167270" "01575" "00218734" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167271" "00198" "00218735" "00645" "Unknown" "" "breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167272" "00314" "00218736" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167273" "00198" "00218737" "00645" "Unknown" "" "breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167274" "00314" "00218738" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167275" "00314" "00218739" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167276" "01515" "00218740" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167277" "01515" "00218741" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167278" "01515" "00218742" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167279" "01515" "00218743" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167280" "01515" "00218744" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167281" "01515" "00218745" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167282" "01515" "00218746" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167283" "01515" "00218747" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167284" "01515" "00218748" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167285" "01515" "00218749" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167286" "01515" "00218750" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167287" "01515" "00218751" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167288" "01515" "00218752" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167289" "00469" "00218753" "00645" "Unknown" "" "HPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167290" "00091" "00218754" "00645" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167291" "01515" "00218755" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167292" "01515" "00218756" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167293" "01515" "00218757" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167294" "01515" "00218758" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167295" "01515" "00218759" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167296" "01515" "00218760" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167297" "01515" "00218761" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167298" "01515" "00218762" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167299" "01515" "00218763" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167300" "01515" "00218764" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167301" "01515" "00218765" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167302" "00091" "00218766" "00645" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167303" "01515" "00218767" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167304" "01515" "00218768" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167305" "01515" "00218769" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167306" "01515" "00218770" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167307" "01515" "00218771" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167308" "00091" "00218772" "00645" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167309" "01516" "00218773" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167310" "01515" "00218774" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167311" "01575" "00218775" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167312" "01575" "00218776" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167313" "01515" "00218777" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167314" "01575" "00218778" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167315" "01515" "00218779" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167316" "00314" "00218780" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167317" "00314" "00218781" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167318" "01575" "00218782" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167319" "00314" "00218783" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167320" "01515" "00218784" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167321" "01515" "00218785" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167322" "01515" "00218786" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167323" "01515" "00218787" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167324" "01515" "00218788" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167325" "01515" "00218789" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167326" "01515" "00218790" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167327" "01515" "00218791" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167328" "01515" "00218792" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167329" "01515" "00218793" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167330" "01515" "00218794" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167331" "00314" "00218795" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167332" "01515" "00218796" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167333" "01515" "00218797" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167334" "01515" "00218798" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167335" "01515" "00218799" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167336" "01515" "00218800" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167337" "01515" "00218801" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167338" "01515" "00218802" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167339" "01515" "00218803" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167340" "01515" "00218804" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167341" "01515" "00218805" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167342" "01515" "00218806" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167343" "01516" "00218807" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167344" "01516" "00218808" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167345" "01515" "00218809" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167346" "01575" "00218810" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167347" "01575" "00218811" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167348" "01516" "00218812" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167349" "01575" "00218813" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167350" "01575" "00218814" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167351" "00314" "00218815" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167352" "01516" "00218816" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167353" "01515" "00218817" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167354" "01515" "00218818" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167355" "01515" "00218819" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167356" "01515" "00218820" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167357" "01575" "00218821" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167358" "01575" "00218822" "00645" "Unknown" "" "HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167359" "01575" "00218823" "00645" "Unknown" "" "HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167360" "01575" "00218824" "00645" "Unknown" "" "HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167361" "01516" "00218825" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167362" "01515" "00218826" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167363" "01515" "00218827" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167364" "01515" "00218828" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167365" "01515" "00218829" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167366" "01515" "00218830" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167367" "01515" "00218831" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167368" "01515" "00218832" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167369" "01515" "00218833" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167370" "01515" "00218834" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167371" "01515" "00218835" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167372" "01515" "00218836" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167373" "01515" "00218837" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167374" "01515" "00218838" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167375" "01515" "00218839" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167376" "01515" "00218840" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167377" "00314" "00218841" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167378" "01515" "00218842" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167379" "01575" "00218843" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167380" "01575" "00218844" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167381" "01575" "00218845" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167382" "01575" "00218846" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167383" "01575" "00218847" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167384" "01515" "00218848" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167385" "01575" "00218849" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167386" "01575" "00218850" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167387" "01575" "00218851" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167388" "00314" "00218852" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167389" "00314" "00218853" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167390" "01515" "00218854" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167391" "01515" "00218855" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167392" "01515" "00218856" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167393" "01515" "00218857" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167394" "01515" "00218858" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167395" "01515" "00218859" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167396" "01516" "00218860" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167397" "01515" "00218861" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167398" "01515" "00218862" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167399" "01515" "00218863" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167400" "01515" "00218864" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167401" "01515" "00218865" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167402" "01515" "00218866" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167403" "01515" "00218867" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167404" "01515" "00218868" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167405" "01515" "00218869" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167406" "01515" "00218870" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167407" "01515" "00218871" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167408" "01515" "00218872" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167409" "01515" "00218873" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167410" "01515" "00218874" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167411" "01515" "00218875" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167412" "01515" "00218876" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167413" "01515" "00218877" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167414" "01515" "00218878" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167415" "01515" "00218879" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167416" "01515" "00218880" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167417" "01515" "00218881" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167418" "01515" "00218882" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167419" "01515" "00218883" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167420" "01515" "00218884" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167421" "01515" "00218885" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167422" "01515" "00218886" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167423" "01515" "00218887" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167424" "01515" "00218888" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167425" "01515" "00218889" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167426" "01515" "00218890" "00645" "Unknown" "" "GJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167427" "01515" "00218891" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167428" "01515" "00218892" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167429" "01515" "00218893" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167430" "01515" "00218894" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167431" "01515" "00218895" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167432" "01515" "00218896" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167433" "01515" "00218897" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167434" "00314" "00218898" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167435" "00314" "00218899" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167436" "00314" "00218900" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167437" "00314" "00218901" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167438" "00314" "00218902" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167439" "01515" "00218903" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167440" "01575" "00218904" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167441" "01575" "00218905" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167442" "01575" "00218906" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167443" "01575" "00218907" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167444" "01575" "00218908" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167445" "01575" "00218909" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167446" "01575" "00218910" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167447" "01575" "00218911" "00645" "Unknown" "" "JP-HHT" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167448" "01515" "00218912" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167449" "01515" "00218913" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167450" "00314" "00218914" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167451" "01515" "00218915" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167452" "01515" "00218916" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167453" "01515" "00218917" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167454" "01515" "00218918" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167455" "01515" "00218919" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167456" "01515" "00218920" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167457" "01515" "00218921" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167458" "01515" "00218922" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167459" "01515" "00218923" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167460" "01515" "00218924" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167461" "00198" "00218925" "00645" "Unknown" "" "breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167462" "00198" "00218926" "00645" "Unknown" "" "breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167463" "00198" "00218927" "00645" "Unknown" "" "breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167464" "01515" "00049974" "00006" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167465" "01515" "00049975" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167466" "01515" "00049976" "00006" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167467" "01515" "00049973" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167468" "01515" "00049972" "00006" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167472" "01515" "00049925" "00006" "Unknown" "28y" "12y-50 juvenile polyps; 28y-polyposis of the stomach" "" "" "" "" "" "" "" "" "" "" "" "JPS" "juvenile polyposis syndrome" "" "0000167473" "01515" "00218931" "00006" "Unknown" "42y" "35y-multiple juvenile polyps in colon and stomach; 35y-gastrectomy" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "0000167474" "01515" "00218932" "00006" "Unknown" "20y" "Lennox disease, macrocephaly, severe psychomotoric retardation; multiple juvenile polyps colon detected at ages of 4–5 years in two brothers; healthy father carries variant" "" "04y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167475" "01515" "00049937" "00006" "Unknown" "16y" "no extracolonic features, gastric polyposis not examined" "" "12y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167476" "01515" "00049938" "00006" "Unknown" "40y" "gastric polyposis,giant gastric folds; 40y-gastrectomy" "" "39y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167477" "01515" "00049939" "00006" "Familial" "41y" "36y-gastric polyposis; 40y-gastrectomy; mother, sister, maternal aunt gastric\r\npolyposis and partial or total gastrectomy at 47y, 47y, 42y resp." "" "21y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167478" "01515" "00218933" "00006" "Isolated (sporadic)" "10y" "pulmonary arteriovenous fistulae, clubbing of fingers, skeletal anomalies thorax, additional dental germs; gastric polyposis not examined" "" "10y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167484" "01516" "00049992" "00006" "Unknown" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "JPHT" "" "" "0000167485" "01516" "00049945" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "JPHT" "" "" "0000167486" "01516" "00049946" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "JPHT" "" "" "0000167487" "01516" "00049947" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167488" "01516" "00049948" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167489" "01516" "00049949" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "JPHT" "" "" "0000167490" "01516" "00049997" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "JPHT" "" "" "0000167491" "01516" "00049999" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "JPHT" "" "" "0000167492" "01516" "00049971" "00006" "Unknown" "37y" "see paper; telangiectases, epistaxis, AVMs lung and gastrointestinal tract, colonic polyps discoverd during endoscopy, ..." "" "" "" "" "" "" "" "" "" "" "" "JPHT" "hemorrhagic telangiectasia" "" "0000167511" "01515" "00218947" "00006" "Familial" "60y" "see paper; …" "" "45y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167512" "01515" "00218948" "00006" "Isolated (sporadic)" "14y" "see paper; …" "" "12y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167513" "01515" "00218949" "00006" "Unknown" "20y" "see paper; …" "" "18y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167514" "01515" "00218950" "00006" "Unknown" "33y" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167515" "01515" "00218951" "00006" "Unknown" "14y" "see paper; …" "" "3y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167516" "01515" "00218952" "00006" "Isolated (sporadic)" "11y" "see paper; …" "" "11y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167517" "01515" "00218953" "00006" "Isolated (sporadic)" "13y" "see paper; …" "" "10y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167518" "01515" "00218954" "00006" "Familial" "42y" "see paper; …" "" "41y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167519" "01515" "00218955" "00006" "Familial" "20y" "see paper; …" "" "4y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167520" "01515" "00218956" "00006" "Familial" "48y" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167521" "01515" "00218957" "00006" "Unknown" "23y" "see paper; …" "" "23y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167522" "01515" "00218958" "00006" "Unknown" "16y" "see paper; …" "" "12y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167523" "01515" "00218959" "00006" "Unknown" "40y" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167524" "01515" "00218960" "00006" "Familial" "41y" "see paper; …" "" "24y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167525" "01515" "00218961" "00006" "Unknown" "50y" "see paper; …" "" "48y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167526" "01515" "00218962" "00006" "Unknown" "56y" "see paper; …" "" "50y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167527" "01515" "00218963" "00006" "Familial" "36y" "see paper; …" "" "12y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167528" "01515" "00218964" "00006" "Familial" "" "see paper; …" "" "12y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000200592" "00198" "00262110" "01164" "Unknown" "" "HP:0012198 (Juvenile colonic polyposis); HP:0004784 (Juvenile gastrointestinal polyposis)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000202006" "01515" "00264160" "01917" "Unknown" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202007" "01515" "00264161" "01917" "Unknown" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202008" "01515" "00264162" "01917" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202009" "01515" "00264163" "01917" "Unknown" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202010" "01515" "00264164" "01917" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202011" "01515" "00264165" "01917" "Unknown" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202012" "01515" "00264166" "01917" "Unknown" "70y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202013" "01515" "00264167" "01917" "Unknown" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202014" "01515" "00264168" "01917" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202015" "01515" "00264169" "01917" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202016" "01515" "00264170" "01917" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202017" "01515" "00264171" "01917" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202018" "01515" "00264172" "01917" "Unknown" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202019" "01515" "00264173" "01917" "Unknown" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202020" "01515" "00264174" "01917" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202021" "01515" "00264175" "01917" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202022" "01515" "00264176" "01917" "Unknown" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202023" "01515" "00264177" "01917" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202024" "01515" "00264178" "01917" "Unknown" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202025" "01515" "00264179" "01917" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202026" "01515" "00264180" "01917" "Unknown" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202027" "01515" "00264181" "01917" "Unknown" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202028" "01515" "00264182" "01917" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202029" "01515" "00264183" "01917" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202030" "01515" "00264184" "01917" "Unknown" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202031" "01515" "00264185" "01917" "Unknown" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202032" "01515" "00264186" "01917" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202033" "01515" "00264187" "01917" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202034" "01515" "00264188" "01917" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202035" "01515" "00264189" "01917" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202036" "01515" "00264190" "01917" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202037" "01515" "00264191" "01917" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202038" "01515" "00264192" "01917" "Unknown" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202039" "01515" "00264193" "01917" "Unknown" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202040" "01515" "00264194" "01917" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202041" "01515" "00264195" "01917" "Unknown" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202042" "01515" "00264196" "01917" "Unknown" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202043" "01515" "00264197" "01917" "Unknown" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202044" "01515" "00264198" "01917" "Unknown" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202045" "01515" "00264199" "01917" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202046" "01515" "00264200" "01917" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202047" "01515" "00264201" "01917" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202048" "01515" "00264202" "01917" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202049" "01515" "00264203" "01917" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202050" "01515" "00264204" "01917" "Unknown" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202051" "01515" "00264205" "01917" "Unknown" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202052" "01515" "00264206" "01917" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202053" "01515" "00264207" "01917" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202054" "01515" "00264208" "01917" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202055" "01515" "00264209" "01917" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202056" "01515" "00264210" "01917" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202057" "01515" "00264211" "01917" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202058" "01515" "00264212" "01917" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202059" "01515" "00264213" "01917" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202060" "01515" "00264214" "01917" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202061" "01515" "00264215" "01917" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202062" "01515" "00264216" "01917" "Unknown" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202063" "01515" "00264217" "01917" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202064" "01515" "00264218" "01917" "Unknown" "76y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202065" "01515" "00264219" "01917" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202066" "01515" "00264220" "01917" "Unknown" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202067" "01515" "00264221" "01917" "Unknown" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202068" "01515" "00264222" "01917" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202069" "01515" "00264223" "01917" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202070" "01515" "00264224" "01917" "Unknown" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202071" "01515" "00264225" "01917" "Unknown" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202072" "01515" "00264226" "01917" "Unknown" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202073" "01515" "00264227" "01917" "Unknown" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202074" "01515" "00264228" "01917" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202075" "01515" "00264229" "01917" "Unknown" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202076" "01515" "00264230" "01917" "Unknown" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202077" "01515" "00264231" "01917" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202078" "01515" "00264232" "01917" "Unknown" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202079" "01515" "00264233" "01917" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202080" "01515" "00264234" "01917" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202081" "01515" "00264235" "01917" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202082" "01515" "00264236" "01917" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202083" "01515" "00264237" "01917" "Unknown" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202084" "01515" "00264238" "01917" "Unknown" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202085" "01515" "00264239" "01917" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202086" "01515" "00264240" "01917" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202087" "01515" "00264241" "01917" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202088" "00198" "00264242" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MD and JPS" "" "0000202089" "00198" "00264243" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MD" "" "0000202090" "00198" "00264244" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MD" "" "0000202091" "01515" "00264245" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202092" "01515" "00264246" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202093" "00198" "00264247" "01917" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "IPAH" "" "0000202094" "00198" "00264248" "01917" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "IPAH" "" "0000202095" "00091" "00264249" "01917" "Unknown" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000202096" "01515" "00264250" "01917" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202097" "00198" "00264251" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ulcerative colitis, crohn" "" "0000202098" "01515" "00264252" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202099" "01516" "00264253" "01917" "Unknown" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JP-HHT" "" "0000202100" "01516" "00264254" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JP-HHT" "" "0000202101" "01516" "00264255" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JP-HHT" "" "0000202102" "00198" "00264256" "01917" "Familial" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "HHT" "" "0000202103" "00091" "00264257" "01917" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CRC" "" "0000202104" "01515" "00264258" "01917" "Familial" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202105" "00198" "00264259" "01917" "Unknown" "69y" "" "" "" "" "" "" "" "" "" "" "" "" "" "HHT" "" "0000202106" "01515" "00264260" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202107" "01515" "00264261" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202108" "01515" "00264262" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202109" "01515" "00264263" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202110" "01515" "00264264" "01917" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "JPS" "" "0000202111" "01516" "00264265" "01917" "Familial" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JP-HHT" "" "0000202112" "01516" "00264266" "01917" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JP-HHT" "" "0000202113" "01516" "00264267" "01917" "Isolated (sporadic)" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JP-HHT" "" "0000202114" "01516" "00264268" "01917" "Familial" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "JP-HHT" "" "0000202115" "01354" "00264269" "01917" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "MYHRS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 509 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003213" "00003295" "1" "00552" "00552" "2013-11-05 19:11:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000037220" "00037150" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037221" "00037151" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037222" "00037152" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037223" "00037153" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000049711" "00049794" "1" "00006" "00006" "2015-09-10 23:21:08" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000049722" "00049804" "1" "00006" "00006" "2015-09-11 12:15:49" "" "" "SEQ" "DNA" "" "" "0000049723" "00049803" "1" "00006" "00006" "2015-09-11 12:23:34" "" "" "SEQ" "DNA" "" "" "0000049724" "00049801" "1" "00006" "00006" "2015-09-11 12:29:21" "" "" 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16:41:54" "" "" "SEQ" "DNA" "" "" "0000049895" "00049975" "1" "00004" "00008" "2015-09-16 16:41:54" "" "" "SEQ" "DNA" "" "" "0000049896" "00049976" "1" "00004" "00008" "2015-09-16 16:41:54" "" "" "SEQ" "DNA" "" "" "0000049897" "00049977" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049898" "00049978" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049899" "00049979" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049900" "00049980" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049901" "00049981" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "SEQ" "DNA" "" "screening" "0000049902" "00049982" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049903" "00049983" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049904" "00049984" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049905" "00049985" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049906" "00049986" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049907" "00049987" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049908" "00049988" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049909" "00049989" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049910" "00049990" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049911" "00049991" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049912" "00049992" "1" "00004" "00008" "2015-09-16 16:41:54" "" "" "SEQ" "DNA" "" "" "0000049913" "00049993" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-31 13:06:28" "PCR;HPLC" "DNA" "" "screening" "0000049914" "00049994" "1" "00004" "00008" "2015-09-16 16:41:54" "" "" "SEQ" "DNA" "" "" "0000049915" "00049995" "1" "00233" "00233" "2012-05-21 09:30:27" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049916" "00049996" "1" "00233" "00233" "2012-05-21 09:30:27" "00006" "2019-01-31 13:06:28" "PCR;SEQ" "DNA" "" "screening" "0000049917" "00049997" "1" "00233" "00233" "2012-05-21 09:30:27" "" "" "SEQ" "DNA" "" "" "0000049918" "00049998" "1" "00233" "00233" "2012-05-21 09:30:27" "00006" "2019-01-31 13:06:28" "CSCE;SEQ" "DNA" "" "screening" "0000049919" "00049999" "1" "00233" "00233" "2012-05-21 09:30:27" "" "" "SEQ" "DNA" "" "" "0000049920" "00050000" "1" "00233" "00233" "2012-05-21 09:30:27" "00006" "2019-01-31 13:06:28" "SEQ" "DNA" "" "screening" "0000049921" "00050001" "1" "00233" "00233" "2012-05-21 09:30:27" "" "" "SEQ" "DNA" "" "" "0000049922" "00050002" "1" "00233" "00233" "2012-05-21 09:30:27" "00006" "2019-01-31 13:06:28" "SEQ" "DNA" "" "screening" "0000049923" "00050003" "1" "00233" "00233" "2012-05-21 09:30:27" "" "" "SEQ" "DNA" "" "" "0000049924" "00050004" "1" "00233" "00233" "2012-05-21 09:30:27" "" "" "SEQ" "DNA" "" "" "0000050340" "00050395" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050483" "00050538" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000090924" "00090779" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090925" "00090780" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090926" "00090781" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090927" "00090782" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090928" "00090783" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090929" "00090784" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090930" "00090785" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090931" "00090786" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000106392" "00105921" "1" "01741" "01741" "2017-06-28 09:59:16" "" "" "SEQ" "DNA" "" "" "0000184509" "00183541" "1" "02940" "00770" "2018-04-21 06:42:58" "00006" "2018-10-26 15:15:59" "SEQ" "DNA" "" "CRC 10 gene panel" "0000184510" "00183542" "1" "02940" "00770" "2018-04-21 06:42:58" "00006" "2018-10-26 15:15:59" "SEQ" "DNA" "" "CRC 10 gene panel" "0000184511" "00183543" "1" "02940" "00770" "2018-04-21 06:42:58" "00006" "2018-10-26 15:15:59" "SEQ" "DNA" "" "CRC 10 gene panel" "0000208992" "00207947" "1" "01164" "01164" "2018-12-04 16:43:44" "" "" "SEQ-NG" "DNA" "" "" "0000208993" "00207948" "1" "01164" "01164" "2018-12-04 16:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000219429" "00218360" "1" "00770" "00770" "2019-01-24 06:44:15" "00770" "2019-01-24 06:48:53" "SEQ-NG" "DNA" "" "MUTYH and STK11 were also sequenced" "0000219734" "00218663" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219735" "00218664" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219736" "00218665" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219737" "00218666" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219738" "00218667" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219739" "00218668" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219740" "00218669" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219741" "00218670" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219742" "00218671" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219743" "00218672" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219744" "00218673" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219745" "00218674" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219746" "00218675" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "CSGE;SSCA;SEQ" "DNA" "" "screening" "0000219747" "00218676" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219748" "00218677" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219749" "00218678" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219750" "00218679" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219751" "00218680" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219752" "00218681" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219753" "00218682" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219754" "00218683" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219755" "00218684" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219756" "00218685" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219757" "00218686" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219758" "00218687" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219759" "00218688" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219760" "00218689" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219761" "00218690" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219762" "00218691" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219763" "00218692" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219764" "00218693" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219765" "00218694" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219766" "00218695" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219767" "00218696" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219768" "00218697" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219769" "00218698" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219770" "00218699" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219771" "00218700" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219772" "00218701" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219773" "00218702" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219774" "00218703" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219775" "00218704" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219776" "00218705" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219777" "00218706" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219778" "00218707" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219779" "00218708" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219780" "00218709" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219781" "00218710" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219782" "00218711" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219783" "00218712" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219784" "00218713" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219785" "00218714" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ;MLPA" "DNA" "" "test for known variant" "0000219786" "00218715" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219787" "00218716" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ;MLPA" "DNA" "" "screening" "0000219788" "00218717" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ;MLPA" "DNA" "" "test for known variant" "0000219789" "00218718" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219790" "00218719" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219791" "00218720" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219792" "00218721" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219793" "00218722" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219794" "00218723" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "CSGE;SSCA;SEQ" "DNA" "" "screening" "0000219795" "00218724" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219796" "00218725" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219797" "00218726" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219798" "00218727" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219799" "00218728" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219800" "00218729" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219801" "00218730" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219802" "00218731" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219803" "00218732" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219804" "00218733" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219805" "00218734" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219806" "00218735" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;DHPLC;SEQ" "DNA" "" "screening" "0000219807" "00218736" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219808" "00218737" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;DHPLC;SEQ" "DNA" "" "screening" "0000219809" "00218738" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219810" "00218739" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219811" "00218740" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219812" "00218741" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219813" "00218742" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219814" "00218743" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "CSGE;SSCA;SEQ" "DNA" "" "screening" "0000219815" "00218744" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "CSGE;SSCA;SEQ" "DNA" "" "screening" "0000219816" "00218745" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219817" "00218746" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219818" "00218747" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219819" "00218748" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219820" "00218749" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219821" "00218750" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219822" "00218751" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219823" "00218752" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219824" "00218753" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ-NG-I" "DNA" "" "screening" "0000219825" "00218754" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ-NG" "DNA" "" "screening" "0000219826" "00218755" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219827" "00218756" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219828" "00218757" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219829" "00218758" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219830" "00218759" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219831" "00218760" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219832" "00218761" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219833" "00218762" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219834" "00218763" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219835" "00218764" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219836" "00218765" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219837" "00218766" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ-NG" "DNA" "" "screening" "0000219838" "00218767" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219839" "00218768" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219840" "00218769" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219841" "00218770" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219842" "00218771" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219843" "00218772" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ-NG" "DNA" "" "screening" "0000219844" "00218773" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219845" "00218774" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219846" "00218775" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219847" "00218776" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219848" "00218777" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219849" "00218778" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219850" "00218779" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219851" "00218780" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219852" "00218781" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219853" "00218782" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "" "0000219854" "00218783" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219855" "00218784" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219856" "00218785" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219857" "00218786" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219858" "00218787" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219859" "00218788" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219860" "00218789" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219861" "00218790" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219862" "00218791" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219863" "00218792" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219864" "00218793" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219865" "00218794" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219866" "00218795" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219867" "00218796" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219868" "00218797" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219869" "00218798" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219870" "00218799" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219871" "00218800" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219872" "00218801" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219873" "00218802" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219874" "00218803" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219875" "00218804" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219876" "00218805" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219877" "00218806" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219878" "00218807" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219879" "00218808" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219880" "00218809" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "CSGE;SSCA;SEQ" "DNA" "" "screening" "0000219881" "00218810" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219882" "00218811" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219883" "00218812" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219884" "00218813" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219885" "00218814" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219886" "00218815" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219887" "00218816" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219888" "00218817" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219889" "00218818" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219890" "00218819" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219891" "00218820" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219892" "00218821" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219893" "00218822" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "" "0000219894" "00218823" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "" "0000219895" "00218824" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "" "0000219896" "00218825" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219897" "00218826" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219898" "00218827" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219899" "00218828" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219900" "00218829" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219901" "00218830" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219902" "00218831" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219903" "00218832" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219904" "00218833" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219905" "00218834" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219906" "00218835" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219907" "00218836" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219908" "00218837" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219909" "00218838" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219910" "00218839" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219911" "00218840" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219912" "00218841" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219913" "00218842" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219914" "00218843" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219915" "00218844" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219916" "00218845" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219917" "00218846" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219918" "00218847" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219919" "00218848" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219920" "00218849" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219921" "00218850" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219922" "00218851" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219923" "00218852" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219924" "00218853" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219925" "00218854" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219926" "00218855" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219927" "00218856" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219928" "00218857" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "test for known variant" "0000219929" "00218858" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219930" "00218859" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219931" "00218860" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219932" "00218861" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219933" "00218862" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219934" "00218863" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219935" "00218864" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219936" "00218865" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219937" "00218866" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219938" "00218867" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219939" "00218868" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219940" "00218869" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219941" "00218870" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219942" "00218871" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219943" "00218872" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219944" "00218873" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219945" "00218874" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219946" "00218875" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219947" "00218876" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219948" "00218877" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219949" "00218878" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219950" "00218879" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219951" "00218880" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219952" "00218881" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219953" "00218882" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219954" "00218883" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219955" "00218884" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219956" "00218885" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219957" "00218886" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219958" "00218887" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219959" "00218888" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219960" "00218889" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219961" "00218890" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219962" "00218891" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219963" "00218892" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219964" "00218893" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SSCA" "DNA" "" "test for known variant" "0000219965" "00218894" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SSCA" "DNA" "" "test for known variant" "0000219966" "00218895" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SSCA" "DNA" "" "test for known variant" "0000219967" "00218896" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SSCA" "DNA" "" "test for known variant" "0000219968" "00218897" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SSCA" "DNA" "" "test for known variant" "0000219969" "00218898" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219970" "00218899" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219971" "00218900" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219972" "00218901" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219973" "00218902" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219974" "00218903" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219975" "00218904" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219976" "00218905" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219977" "00218906" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219978" "00218907" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219979" "00218908" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219980" "00218909" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219981" "00218910" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219982" "00218911" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219983" "00218912" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219984" "00218913" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219985" "00218914" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219986" "00218915" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219987" "00218916" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219988" "00218917" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219989" "00218918" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219990" "00218919" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219991" "00218920" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219992" "00218921" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "" "0000219993" "00218922" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219994" "00218923" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219995" "00218924" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219996" "00218925" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;DHPLC;SEQ" "DNA" "" "screening" "0000219997" "00218926" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;DHPLC;SEQ" "DNA" "" "screening" "0000219998" "00218927" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;DHPLC;SEQ" "DNA" "" "screening" "0000220003" "00218931" "1" "00006" "00006" "2019-02-01 15:05:54" "00006" "2019-02-01 15:19:45" "SEQ" "DNA" "" "" "0000220004" "00218932" "1" "00006" "00006" "2019-02-01 15:14:14" "" "" "SEQ" "DNA" "" "" "0000220005" "00218933" "1" "00006" "00006" "2019-02-01 15:41:24" "" "" "SEQ" "DNA" "" "" "0000220019" "00218947" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220020" "00218948" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220021" "00218949" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220022" "00218950" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220023" "00218951" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220024" "00218952" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220025" "00218953" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220026" "00218954" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220027" "00218955" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220028" "00218956" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220029" "00218957" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220030" "00218958" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220031" "00218959" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220032" "00218960" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220033" "00218961" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220034" "00218962" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220035" "00218963" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220036" "00218964" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000263216" "00262110" "1" "01164" "01164" "2019-08-19 09:49:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000265280" "00264160" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265281" "00264161" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265282" "00264162" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265283" "00264163" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265284" "00264164" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265285" "00264165" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265286" "00264166" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265287" "00264167" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265288" "00264168" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265289" "00264169" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265290" "00264170" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265291" "00264171" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265292" "00264172" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265293" "00264173" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265294" "00264174" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265295" "00264175" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265296" "00264176" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265297" "00264177" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265298" "00264178" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265299" "00264179" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265300" "00264180" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265301" "00264181" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265302" "00264182" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265303" "00264183" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265304" "00264184" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265305" "00264185" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265306" "00264186" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265307" "00264187" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265308" "00264188" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265309" "00264189" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265310" "00264190" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265311" "00264191" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265312" "00264192" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265313" "00264193" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265314" "00264194" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265315" "00264195" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265316" "00264196" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265317" "00264197" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265318" "00264198" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265319" "00264199" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265320" "00264200" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265321" "00264201" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265322" "00264202" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265323" "00264203" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265324" "00264204" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265325" "00264205" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265326" "00264206" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265327" "00264207" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265328" "00264208" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265329" "00264209" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265330" "00264210" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265331" "00264211" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265332" "00264212" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265333" "00264213" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265334" "00264214" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265335" "00264215" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265336" "00264216" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265337" "00264217" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265338" "00264218" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265339" "00264219" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265340" "00264220" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265341" "00264221" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265342" "00264222" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265343" "00264223" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265344" "00264224" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265345" "00264225" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265346" "00264226" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265347" "00264227" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265348" "00264228" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265349" "00264229" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265350" "00264230" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265351" "00264231" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265352" "00264232" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265353" "00264233" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265354" "00264234" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265355" "00264235" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265356" "00264236" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265357" "00264237" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265358" "00264238" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265359" "00264239" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265360" "00264240" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265361" "00264241" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265362" "00264242" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "PCR;SEQ" "DNA" "" "" "0000265363" "00264243" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "PCR;SEQ" "DNA" "" "" "0000265364" "00264244" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "PCR;SEQ" "DNA" "" "" "0000265365" "00264245" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "PCR;SEQ" "DNA" "" "" "0000265366" "00264246" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "PCR;SEQ" "DNA" "" "" "0000265367" "00264247" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265368" "00264248" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265369" "00264249" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ-NG" "DNA" "" "" "0000265370" "00264250" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265371" "00264251" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "test for known variant" "0000265372" "00264252" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265373" "00264253" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265374" "00264254" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ;SEQ-NG" "DNA" "" "test for known variant" "0000265375" "00264255" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ;SEQ-NG" "DNA" "" "screening" "0000265376" "00264256" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265377" "00264257" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265378" "00264258" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ-NG" "DNA" "" "screening" "0000265379" "00264259" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ-NG" "DNA" "" "screening" "0000265380" "00264260" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265381" "00264261" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "" "0000265382" "00264262" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265383" "00264263" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265384" "00264264" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "test for known variant" "0000265385" "00264265" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265386" "00264266" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265387" "00264267" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265388" "00264268" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ" "DNA" "" "screening" "0000265389" "00264269" "1" "01917" "01917" "2019-09-13 14:49:20" "" "" "SEQ-NG" "DNA" "" "screening" "0000293146" "00291978" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293147" "00291979" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293148" "00291980" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293149" "00291981" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 515 "{{screeningid}}" "{{geneid}}" "0000003213" "SMAD4" "0000037220" "SMAD4" "0000037221" "SMAD4" "0000037222" "SMAD4" "0000037223" "SMAD4" "0000049711" "SMAD4" "0000049722" "SMAD4" "0000049723" "SMAD4" "0000049724" "SMAD4" "0000049725" "SMAD4" "0000049726" "SMAD4" "0000049844" "SMAD4" "0000049845" "SMAD4" "0000049846" "SMAD4" "0000049847" "SMAD4" "0000049848" "SMAD4" "0000049849" "SMAD4" "0000049850" "SMAD4" "0000049851" "SMAD4" "0000049852" "SMAD4" "0000049853" "SMAD4" "0000049854" "SMAD4" "0000049855" "SMAD4" "0000049857" "SMAD4" "0000049858" "SMAD4" "0000049859" "SMAD4" "0000049860" "SMAD4" "0000049861" "SMAD4" "0000049862" "SMAD4" "0000049863" "SMAD4" "0000049864" "SMAD4" "0000049865" "SMAD4" "0000049866" "SMAD4" "0000049867" "SMAD4" "0000049868" "SMAD4" "0000049869" "SMAD4" "0000049870" "SMAD4" "0000049871" "SMAD4" "0000049872" "SMAD4" "0000049873" "SMAD4" "0000049874" "SMAD4" "0000049875" "SMAD4" "0000049876" "SMAD4" "0000049877" "SMAD4" "0000049878" "SMAD4" "0000049879" "SMAD4" "0000049880" "SMAD4" "0000049881" "SMAD4" "0000049882" "SMAD4" "0000049883" "SMAD4" "0000049884" "SMAD4" "0000049885" "SMAD4" "0000049886" "SMAD4" "0000049887" "SMAD4" "0000049888" "SMAD4" "0000049889" "SMAD4" "0000049890" "SMAD4" "0000049891" "SMAD4" "0000049892" "SMAD4" "0000049893" "SMAD4" "0000049894" "SMAD4" "0000049895" "SMAD4" "0000049896" "SMAD4" "0000049897" "SMAD4" "0000049898" "SMAD4" "0000049899" "SMAD4" "0000049900" "SMAD4" "0000049901" "SMAD4" "0000049902" "SMAD4" "0000049903" "SMAD4" "0000049904" "SMAD4" "0000049905" "SMAD4" "0000049906" "SMAD4" "0000049907" "SMAD4" "0000049908" "SMAD4" "0000049909" "SMAD4" "0000049910" "SMAD4" "0000049911" "SMAD4" "0000049912" "SMAD4" "0000049913" "SMAD4" "0000049914" "SMAD4" "0000049915" "SMAD4" "0000049916" "SMAD4" "0000049917" "SMAD4" "0000049918" "SMAD4" "0000049919" "SMAD4" "0000049920" "SMAD4" "0000049921" "SMAD4" "0000049922" "SMAD4" "0000049923" "SMAD4" "0000049924" "SMAD4" "0000050340" "SMAD4" "0000090924" "SMAD4" "0000090925" "SMAD4" "0000090926" "SMAD4" "0000090927" "SMAD4" "0000090928" "SMAD4" "0000090929" "SMAD4" "0000090930" "SMAD4" "0000090931" "SMAD4" "0000106392" "SMAD4" "0000184509" "SMAD4" "0000184510" "SMAD4" "0000184511" "SMAD4" "0000219429" "APC" "0000219429" "AXIN2" "0000219429" "BMPR1A" "0000219429" "BUB1B" "0000219429" "EPCAM" "0000219429" "GREM1" "0000219429" "MLH1" "0000219429" "MSH2" "0000219429" "MSH6" "0000219429" "NTHL1" "0000219429" "PMS2" "0000219429" "POLD1" "0000219429" "POLE" "0000219429" "PTEN" "0000219429" "SMAD4" "0000219734" "SMAD4" "0000219735" "SMAD4" "0000219736" "SMAD4" "0000219737" "SMAD4" "0000219738" "SMAD4" "0000219739" "SMAD4" "0000219740" "SMAD4" "0000219741" "SMAD4" "0000219742" "SMAD4" "0000219743" "SMAD4" "0000219744" "SMAD4" "0000219745" "SMAD4" "0000219746" "SMAD4" "0000219747" "SMAD4" "0000219748" "SMAD4" "0000219749" "SMAD4" "0000219750" "SMAD4" "0000219751" "SMAD4" "0000219752" "SMAD4" "0000219753" "SMAD4" "0000219754" "SMAD4" "0000219755" "SMAD4" "0000219756" "SMAD4" "0000219757" "SMAD4" "0000219758" "SMAD4" "0000219759" "SMAD4" "0000219760" "SMAD4" "0000219761" "SMAD4" "0000219762" "SMAD4" "0000219763" "SMAD4" "0000219764" "SMAD4" "0000219765" "SMAD4" "0000219766" "SMAD4" "0000219767" "SMAD4" "0000219768" "SMAD4" "0000219769" "SMAD4" "0000219770" "SMAD4" "0000219771" "SMAD4" "0000219772" "SMAD4" "0000219773" "SMAD4" "0000219774" "SMAD4" "0000219775" "SMAD4" "0000219776" "SMAD4" "0000219777" "SMAD4" "0000219778" "SMAD4" "0000219779" "SMAD4" "0000219780" "SMAD4" "0000219781" "SMAD4" "0000219782" "SMAD4" "0000219783" "SMAD4" "0000219784" "SMAD4" "0000219785" "SMAD4" "0000219786" "SMAD4" "0000219787" "SMAD4" "0000219788" "SMAD4" "0000219789" "SMAD4" "0000219790" "SMAD4" "0000219791" "SMAD4" "0000219792" "SMAD4" "0000219793" "SMAD4" "0000219794" "SMAD4" "0000219795" "SMAD4" "0000219796" "SMAD4" "0000219797" "SMAD4" "0000219798" "SMAD4" "0000219799" "SMAD4" "0000219800" "SMAD4" "0000219801" "SMAD4" "0000219802" "SMAD4" "0000219803" "SMAD4" "0000219804" "SMAD4" "0000219805" "SMAD4" "0000219806" "SMAD4" "0000219807" "SMAD4" "0000219808" "SMAD4" "0000219809" "SMAD4" "0000219810" "SMAD4" "0000219811" "SMAD4" "0000219812" "SMAD4" "0000219813" "SMAD4" "0000219814" "SMAD4" "0000219815" "SMAD4" "0000219816" "SMAD4" "0000219817" "SMAD4" "0000219818" "SMAD4" "0000219819" "SMAD4" "0000219820" "SMAD4" "0000219821" "SMAD4" "0000219822" "SMAD4" "0000219823" "SMAD4" "0000219824" "SMAD4" "0000219825" "SMAD4" "0000219826" "SMAD4" "0000219827" "SMAD4" "0000219828" "SMAD4" "0000219829" "SMAD4" "0000219830" "SMAD4" "0000219831" "SMAD4" "0000219832" "SMAD4" "0000219833" "SMAD4" "0000219834" "SMAD4" "0000219835" "SMAD4" "0000219836" "SMAD4" "0000219837" "SMAD4" "0000219838" "SMAD4" "0000219839" "SMAD4" "0000219840" "SMAD4" "0000219841" "SMAD4" "0000219842" "SMAD4" "0000219843" "SMAD4" "0000219844" "SMAD4" "0000219845" "SMAD4" "0000219846" "SMAD4" "0000219847" "SMAD4" "0000219848" "SMAD4" "0000219849" "SMAD4" "0000219850" "SMAD4" "0000219851" "SMAD4" "0000219852" "SMAD4" "0000219853" "SMAD4" "0000219854" "SMAD4" "0000219855" "SMAD4" "0000219856" "SMAD4" "0000219857" "SMAD4" "0000219858" "SMAD4" "0000219859" "SMAD4" "0000219860" "SMAD4" "0000219861" "SMAD4" "0000219862" "SMAD4" "0000219863" "SMAD4" "0000219864" "SMAD4" "0000219865" "SMAD4" "0000219866" "SMAD4" "0000219867" "SMAD4" "0000219868" "SMAD4" "0000219869" "SMAD4" "0000219870" "SMAD4" "0000219871" "SMAD4" "0000219872" "SMAD4" "0000219873" "SMAD4" "0000219874" "SMAD4" "0000219875" "SMAD4" "0000219876" "SMAD4" "0000219877" "SMAD4" "0000219878" "SMAD4" "0000219879" "SMAD4" "0000219880" "SMAD4" "0000219881" "SMAD4" "0000219882" "SMAD4" "0000219883" "SMAD4" "0000219884" "SMAD4" "0000219885" "SMAD4" "0000219886" "SMAD4" "0000219887" "SMAD4" "0000219888" "SMAD4" "0000219889" "SMAD4" "0000219890" "SMAD4" "0000219891" "SMAD4" "0000219892" "SMAD4" "0000219893" "SMAD4" "0000219894" "SMAD4" "0000219895" "SMAD4" "0000219896" "SMAD4" "0000219897" "SMAD4" "0000219898" "SMAD4" "0000219899" "SMAD4" "0000219900" "SMAD4" "0000219901" "SMAD4" "0000219902" "SMAD4" "0000219903" "SMAD4" "0000219904" "SMAD4" "0000219905" "SMAD4" "0000219906" "SMAD4" "0000219907" "SMAD4" "0000219908" "SMAD4" "0000219909" "SMAD4" "0000219910" "SMAD4" "0000219911" "SMAD4" "0000219912" "SMAD4" "0000219913" "SMAD4" "0000219914" "SMAD4" "0000219915" "SMAD4" "0000219916" "SMAD4" "0000219917" "SMAD4" "0000219918" "SMAD4" "0000219919" "SMAD4" "0000219920" "SMAD4" "0000219921" "SMAD4" "0000219922" "SMAD4" "0000219923" "SMAD4" "0000219924" "SMAD4" "0000219925" "SMAD4" "0000219926" "SMAD4" "0000219927" "SMAD4" "0000219928" "SMAD4" "0000219929" "SMAD4" "0000219930" "SMAD4" "0000219931" "SMAD4" "0000219932" "SMAD4" "0000219933" "SMAD4" "0000219934" "SMAD4" "0000219935" "SMAD4" "0000219936" "SMAD4" "0000219937" "SMAD4" "0000219938" "SMAD4" "0000219939" "SMAD4" "0000219940" "SMAD4" "0000219941" "SMAD4" "0000219942" "SMAD4" "0000219943" "SMAD4" "0000219944" "SMAD4" "0000219945" "SMAD4" "0000219946" "SMAD4" "0000219947" "SMAD4" "0000219948" "SMAD4" "0000219949" "SMAD4" "0000219950" "SMAD4" "0000219951" "SMAD4" "0000219952" "SMAD4" "0000219953" "SMAD4" "0000219954" "SMAD4" "0000219955" "SMAD4" "0000219956" "SMAD4" "0000219957" "SMAD4" "0000219958" "SMAD4" "0000219959" "SMAD4" "0000219960" "SMAD4" "0000219961" "SMAD4" "0000219962" "SMAD4" "0000219963" "SMAD4" "0000219964" "SMAD4" "0000219965" "SMAD4" "0000219966" "SMAD4" "0000219967" "SMAD4" "0000219968" "SMAD4" "0000219969" "SMAD4" "0000219970" "SMAD4" "0000219971" "SMAD4" "0000219972" "SMAD4" "0000219973" "SMAD4" "0000219974" "SMAD4" "0000219975" "SMAD4" "0000219976" "SMAD4" "0000219977" "SMAD4" "0000219978" "SMAD4" "0000219979" "SMAD4" "0000219980" "SMAD4" "0000219981" "SMAD4" "0000219982" "SMAD4" "0000219983" "SMAD4" "0000219984" "SMAD4" "0000219985" "SMAD4" "0000219986" "SMAD4" "0000219987" "SMAD4" "0000219988" "SMAD4" "0000219989" "SMAD4" "0000219990" "SMAD4" "0000219991" "SMAD4" "0000219992" "SMAD4" "0000219993" "SMAD4" "0000219994" "SMAD4" "0000219995" "SMAD4" "0000219996" "SMAD4" "0000219997" "SMAD4" "0000219998" "SMAD4" "0000220003" "SMAD4" "0000220004" "SMAD4" "0000220005" "SMAD4" "0000220019" "SMAD4" "0000220020" "SMAD4" "0000220021" "SMAD4" "0000220022" "SMAD4" "0000220023" "SMAD4" "0000220024" "SMAD4" "0000220025" "SMAD4" "0000220026" "SMAD4" "0000220027" "SMAD4" "0000220028" "SMAD4" "0000220029" "SMAD4" "0000220030" "SMAD4" "0000220031" "SMAD4" "0000220032" "SMAD4" "0000220033" "SMAD4" "0000220034" "SMAD4" "0000220035" "SMAD4" "0000220036" "SMAD4" "0000265280" "SMAD4" "0000265281" "SMAD4" "0000265282" "SMAD4" "0000265283" "SMAD4" "0000265284" "SMAD4" "0000265285" "SMAD4" "0000265286" "SMAD4" "0000265287" "SMAD4" "0000265288" "SMAD4" "0000265289" "SMAD4" "0000265290" "SMAD4" "0000265291" "SMAD4" "0000265292" "SMAD4" "0000265293" "SMAD4" "0000265294" "SMAD4" "0000265295" "SMAD4" "0000265296" "SMAD4" "0000265297" "SMAD4" "0000265298" "SMAD4" "0000265299" "SMAD4" "0000265300" "SMAD4" "0000265301" "SMAD4" "0000265302" "SMAD4" "0000265303" "SMAD4" "0000265304" "SMAD4" "0000265305" "SMAD4" "0000265306" "SMAD4" "0000265307" "SMAD4" "0000265308" "SMAD4" "0000265309" "SMAD4" "0000265310" "SMAD4" "0000265311" "SMAD4" "0000265312" "SMAD4" "0000265313" "SMAD4" "0000265314" "SMAD4" "0000265315" "SMAD4" "0000265316" "SMAD4" "0000265317" "SMAD4" "0000265318" "SMAD4" "0000265319" "SMAD4" "0000265320" "SMAD4" "0000265321" "SMAD4" "0000265322" "SMAD4" "0000265323" "SMAD4" "0000265324" "SMAD4" "0000265325" "SMAD4" "0000265326" "SMAD4" "0000265327" "SMAD4" "0000265328" "SMAD4" "0000265329" "SMAD4" "0000265330" "SMAD4" "0000265331" "SMAD4" "0000265332" "SMAD4" "0000265333" "SMAD4" "0000265334" "SMAD4" "0000265335" "SMAD4" "0000265336" "SMAD4" "0000265337" "SMAD4" "0000265338" "SMAD4" "0000265339" "SMAD4" "0000265340" "SMAD4" "0000265341" "SMAD4" "0000265342" "SMAD4" "0000265343" "SMAD4" "0000265344" "SMAD4" "0000265345" "SMAD4" "0000265346" "SMAD4" "0000265347" "SMAD4" "0000265348" "SMAD4" "0000265349" "SMAD4" "0000265350" "SMAD4" "0000265351" "SMAD4" "0000265352" "SMAD4" "0000265353" "SMAD4" "0000265354" "SMAD4" "0000265355" "SMAD4" "0000265356" "SMAD4" "0000265357" "SMAD4" "0000265358" "SMAD4" "0000265359" "SMAD4" "0000265360" "SMAD4" "0000265361" "SMAD4" "0000265362" "SMAD4" "0000265363" "SMAD4" "0000265364" "SMAD4" "0000265365" "SMAD4" "0000265366" "SMAD4" "0000265367" "SMAD4" "0000265368" "SMAD4" "0000265369" "SMAD4" "0000265370" "SMAD4" "0000265371" "SMAD4" "0000265372" "SMAD4" "0000265373" "SMAD4" "0000265374" "SMAD4" "0000265375" "SMAD4" "0000265376" "SMAD4" "0000265377" "SMAD4" "0000265378" "SMAD4" "0000265379" "SMAD4" "0000265380" "SMAD4" "0000265381" "SMAD4" "0000265382" "SMAD4" "0000265383" "SMAD4" "0000265384" "SMAD4" "0000265385" "SMAD4" "0000265386" "SMAD4" "0000265387" "SMAD4" "0000265388" "SMAD4" "0000265389" "SMAD4" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 610 "{{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}}" "0000021761" "1" "50" "18" "48575186" "48575186" "subst" "0" "00552" "SMAD4_000009" "g.48575186G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51048816G>T" "" "VUS" "" "0000064345" "1" "10" "18" "48586037" "48586040" "del" "0" "01164" "SMAD4_000011" "g.48586037_48586040del" "" "" "" "" "" "Germline" "" "rs71880423" "0" "" "" "g.51059667_51059670del" "" "benign" "" "0000064346" "1" "90" "18" "48604626" "48604626" "del" "0" "01164" "SMAD4_000013" "g.48604626del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51078256del" "" "pathogenic" "" "0000064347" "1" "10" "18" "48573689" "48573689" "subst" "0.00760316" "01164" "SMAD4_000010" "g.48573689A>G" "up to 0.025" "" "" "" "" "Germline" "" "rs77389132" "0" "" "" "g.51047319A>G" "" "benign" "" "0000064348" "1" "90" "18" "48593494" "48593497" "del" "0" "01164" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "" "0000078598" "1" "90" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Howe 1998:09582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}, {OMIM600993:0005}" "" "1372_1375del" "not in 484 control chromosomes" "Germline" "yes" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "" "0000078607" "0" "90" "18" "48591879" "48591880" "del" "0" "00006" "SMAD4_000014" "g.48591879_48591880del" "" "{PMID:Howe 1998:09582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}, {OMIM600993:0006}" "" "1170_1171del" "not in 202 control chromosomes" "Unknown" "" "" "0" "" "" "g.51065509_51065510del" "" "pathogenic" "" "0000078608" "0" "90" "18" "48584519" "48584519" "dup" "0" "00006" "SMAD4_000015" "g.48584519dup" "" "{PMID:Howe 1998:09582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}, {OMIM600993:0007}" "" "820dupG" "not in 214 control chromosomes" "Unknown" "" "" "0" "" "" "g.51058149dup" "" "pathogenic" "" "0000078609" "1" "90" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Howe 1998:09582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}, {OMIM600993:0005}" "" "1372_1375del" "not in 484 control chromosomes" "Germline" "yes" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "" "0000078610" "1" "90" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Howe 1998:09582123}, {DOI:Howe 1998:10.1126/science.280.5366.1086}, {OMIM600993:0005}" "" "1372_1375del" "not in 484 control" "Germline" "yes" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "" "0000078611" "0" "99" "18" "48584519" "48584519" "dup" "0" "00006" "SMAD4_000015" "g.48584519dup" "" "{PMID:Shikata 2005:15754356}, {DOI:Shikata 2005:10.1002/ajmg.a.30482}" "" "815-820(687insG)" "ACMG PS1, PM2, PM6" "Unknown" "" "" "0" "" "" "g.51058149dup" "" "pathogenic" "ACMG" "0000078758" "0" "95" "18" "48591918" "48591918" "subst" "0" "00004" "SMAD4_000007" "g.48591918C>T" "" "{PMID:Houlston 1998:9811934}, {EXP:019572}, {DOI:Houlston 1998:10.1093/hmg/7.12.1907}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "rs80338963" "0" "" "" "g.51065548C>T" "" "pathogenic" "ACMG" "0000078759" "0" "99" "18" "48584753" "48584754" "del" "0" "00004" "SMAD4_000046" "g.48584753_48584754del" "" "{PMID:Friedl 1999:10398437}, {PMID:Friedl 2002:12136244}" "" "959–960delAC" "" "Germline" "" "" "0" "" "" "g.51058383_51058384del" "" "pathogenic (dominant)" "" "0000078760" "0" "95" "18" "48581229" "48581229" "subst" "0" "00004" "SMAD4_000042" "g.48581229C>G" "" "{PMID:Roth 1999:10441006}" "" "661C>G" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51054859C>G" "" "pathogenic" "ACMG" "0000078761" "0" "99" "18" "48591895" "48591895" "subst" "0" "00004" "SMAD4_000021" "g.48591895A>C" "" "{PMID:Roth 1999:10441006}" "" "1186A>C" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51065525A>C" "" "pathogenic" "ACMG" "0000078762" "0" "59" "18" "48603032" "48603032" "subst" "0.00000406359" "00004" "SMAD4_000051" "g.48603032C>T" "" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "1333C>T | R445X" "ACMG PVS1, PM4, PP3, PP5" "Germline" "" "rs377767360" "0" "" "" "g.51076662C>T" "" "VUS" "ACMG" "0000078763" "0" "59" "18" "48581213" "48581223" "del" "0" "00004" "SMAD4_000041" "g.48581213_48581223del" "" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "517_527delTCCACTGAAGG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51054843_51054853del" "" "VUS" "ACMG" "0000078764" "0" "59" "18" "48604742" "48604743" "del" "0" "00004" "SMAD4_000063" "g.48604742_48604743del" "" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "1564_1565delCC" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs377767374" "0" "" "" "g.51078372_51078373del" "" "VUS" "ACMG" "0000078765" "0" "95" "18" "48591919" "48591919" "subst" "0" "00004" "SMAD4_000024" "g.48591919G>A" "" "{PMID:Kim 2000:10797267}, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o}" "" "" "ACMG PM2, PP3" "Germline" "" "rs377767347" "0" "" "" "g.51065549G>A" "" "pathogenic" "ACMG" "0000078766" "0" "99" "18" "48593411" "48593411" "subst" "0" "00004" "SMAD4_000032" "g.48593411C>T" "" "{PMID:Kim 2000:10797267}, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o}" "" "1162C>T | Q388X" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000078767" "0" "95" "18" "48593417" "48593417" "subst" "0" "00004" "SMAD4_000033" "g.48593417G>A" "" "{PMID:Kim 2000:10797267}, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o}" "" "" "ACMG PM2, PP3" "Germline" "" "rs377767356" "0" "" "" "g.51067047G>A" "" "pathogenic" "ACMG" "0000078768" "0" "99" "18" "48575231" "48575231" "subst" "0" "00004" "SMAD4_000129" "g.48575231G>A" "" "{PMID:Woodford-Richens 2001:11583957}, {DOI:Woodford-Richens 2001:10.1016/S0002.9440(10)62516-3}" "" "" "ACMG PVS1, PM2, PP3, PP5" "Germline" "" "rs377767386" "0" "" "" "g.51048861G>A" "" "pathogenic" "ACMG" "0000078769" "0" "99" "18" "48581234" "48581234" "subst" "0" "00004" "SMAD4_000043" "g.48581234C>T" "" "{PMID:Woodford-Richens 2001:11583957}, {DOI:Woodford-Richens 2001:10.1016/S0002.9440(10)62516-3}" "" "538C>T | Q180X" "" "Germline" "" "" "0" "" "" "g.51054864C>T" "" "pathogenic" "" "0000078771" "0" "99" "18" "48603041" "48603041" "subst" "0" "00004" "SMAD4_000052" "g.48603041C>T" "" "{PMID:Friedl 2002:12136244}" "" "" "" "Germline" "" "" "0" "" "" "g.51076671C>T" "" "pathogenic (dominant)" "" "0000078772" "0" "99" "18" "48604722" "48604722" "del" "0" "00004" "SMAD4_000060" "g.48604722del" "" "{PMID:Friedl 2002:12136244}" "" "1544delG" "" "Germline" "" "" "0" "" "" "g.51078352del" "" "pathogenic (dominant)" "" "0000078773" "0" "99" "18" "48604725" "48604728" "dup" "0" "00004" "SMAD4_000061" "g.48604725_48604728dup" "" "{PMID:Friedl 2002:12136244}" "" "1550_1551insAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000078774" "0" "99" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "1244delAGAC" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "" "0000078775" "0" "99" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "1244delAGAC" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "" "0000078776" "0" "99" "18" "48604766" "48604766" "del" "0" "00004" "SMAD4_000067" "g.48604766del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "1588delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767377" "0" "" "" "g.51078396del" "" "pathogenic" "ACMG" "0000078777" "0" "99" "18" "48581304" "48581304" "del" "0" "00004" "SMAD4_000044" "g.48581304del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "608delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51054934del" "" "pathogenic" "ACMG" "0000078778" "0" "99" "18" "48591874" "48591874" "del" "0" "00004" "SMAD4_000019" "g.48591874del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "1037delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51065504del" "" "pathogenic" "ACMG" "0000078779" "0" "99" "18" "48591918" "48591918" "subst" "0" "00004" "SMAD4_000022" "g.48591918C>G" "" "{PMID:Gallione 2004:15031030}" "" "" "" "De novo" "" "" "0" "" "" "g.51065548C>G" "" "pathogenic (dominant)" "" "0000078780" "1" "99" "18" "48604776" "48604776" "subst" "0" "00004" "SMAD4_000071" "g.48604776T>G" "" "{PMID:Gallione 2004:15031030}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51078406T>G" "" "pathogenic (dominant)" "" "0000078781" "0" "99" "18" "48604778" "48604778" "subst" "0" "00004" "SMAD4_000073" "g.48604778C>T" "" "{PMID:Gallione 2004:15031030}" "" "" "" "Germline" "" "" "0" "" "" "g.51078408C>T" "" "pathogenic (dominant)" "" "0000078782" "0" "99" "18" "48604772" "48604772" "del" "0" "00004" "SMAD4_000068" "g.48604772del" "" "{PMID:Gallione 2004:15031030}" "" "1594delG" "" "De novo" "" "" "0" "" "" "g.51078402del" "" "pathogenic (dominant)" "" "0000078783" "1" "99" "18" "48604790" "48604803" "del" "0" "00004" "SMAD4_000075" "g.48604790_48604803del" "" "{PMID:Gallione 2004:15031030}" "" "1612-25 del14" "" "Germline" "yes" "" "0" "" "" "g.51078420_51078433del" "" "pathogenic (dominant)" "" "0000078784" "0" "95" "18" "48591918" "48591918" "subst" "0" "00004" "SMAD4_000023" "g.48591918C>A" "" "{PMID:Howe 2004:15235019}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "rs80338963" "0" "" "" "g.51065548C>A" "" "pathogenic" "ACMG" "0000078785" "0" "95" "18" "48604707" "48604707" "subst" "0" "00004" "SMAD4_000059" "g.48604707G>T" "" "{PMID:Howe 2004:15235019}" "" "" "ACMG PM2, PP3" "Germline" "" "rs377767371" "0" "" "" "g.51078337G>T" "" "pathogenic" "ACMG" "0000078786" "0" "99" "18" "48593485" "48593485" "subst" "0" "00004" "SMAD4_000036" "g.48593485C>G" "" "{PMID:Lamireau 2005:15990641}, {DOI:Lamireau 2005:10.1097/01.mpg.0000151762.51287.7d}" "" "1236C>G | Y412X" "ACMG PS1, PM2, PM4, PP3" "Germline" "" "rs121912577" "0" "" "" "g.51067115C>G" "" "pathogenic" "ACMG" "0000078787" "0" "95" "18" "48604749" "48604749" "subst" "0" "00004" "SMAD4_000064" "g.48604749G>T" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "ACMG PM2, PP3" "Germline" "" "rs377767375" "0" "" "" "g.51078379G>T" "" "pathogenic" "ACMG" "0000078788" "0" "99" "18" "48593517" "48593517" "del" "0" "00004" "SMAD4_000050" "g.48593517del" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "1268delG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067147del" "" "pathogenic" "ACMG" "0000078789" "0" "99" "18" "48593491" "48593491" "del" "0" "00004" "SMAD4_000049" "g.48593491del" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "1242delA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767358" "0" "" "" "g.51067121del" "" "pathogenic" "ACMG" "0000078790" "0" "99" "18" "48575181" "48575187" "dup" "0" "00004" "SMAD4_000037" "g.48575181_48575187dup" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "375_381dupTGTCTGT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51048811_51048817dup" "" "pathogenic" "ACMG" "0000078791" "0" "99" "18" "48604785" "48604785" "dup" "0" "00004" "SMAD4_000074" "g.48604785dup" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "1607dupT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767384" "0" "" "" "g.51078415dup" "" "pathogenic" "ACMG" "0000078792" "0" "55" "18" "48604700" "48604700" "subst" "0" "00004" "SMAD4_000057" "g.48604700G>C" "" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "1524T>A" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51078330G>C" "" "VUS" "ACMG" "0000078793" "0" "99" "18" "48603108" "48603109" "ins" "0" "00004" "SMAD4_000055" "g.48603108_48603109insCCCT" "" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "1409_10insCCCT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767364" "0" "" "" "g.51076738_51076739insCCCT" "" "pathogenic" "ACMG" "0000078794" "0" "99" "18" "48593558" "48593558" "subst" "0" "00004" "SMAD4_000130" "g.48593558G>A" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "IVS9+1G>A" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51067188G>A" "" "pathogenic" "ACMG" "0000078795" "0" "99" "18" "48575209" "48575209" "subst" "0" "00004" "SMAD4_000038" "g.48575209C>T" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "403C>T | R135X" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767326" "0" "" "" "g.51048839C>T" "" "pathogenic" "ACMG" "0000078796" "0" "95" "18" "48591928" "48591928" "subst" "0" "00004" "SMAD4_000028" "g.48591928T>G" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "1091T>G" "ACMG PM2, PP3, PP5" "Germline" "" "rs377767350" "0" "" "" "g.51065558T>G" "" "pathogenic" "ACMG" "0000078797" "0" "99" "18" "48591950" "48591950" "del" "0" "00004" "SMAD4_000030" "g.48591950del" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "1113delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767352" "0" "" "" "g.51065580del" "" "pathogenic" "ACMG" "0000078798" "0" "95" "18" "48591925" "48591927" "del" "0" "00004" "SMAD4_000027" "g.48591925_48591927del" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "1088-1090delGTT" "ACMG PM2, PP3, PM4" "Germline" "" "" "0" "" "" "g.51065555_51065557del" "" "pathogenic" "ACMG" "0000078799" "0" "99" "18" "48603060" "48603063" "del" "0" "00004" "SMAD4_000054" "g.48603060_48603063del" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "1361-1364delCACA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767363" "0" "" "" "g.51076690_51076693del" "" "pathogenic" "ACMG" "0000078800" "0" "99" "18" "48604775" "48604775" "del" "0" "00004" "SMAD4_000070" "g.48604775del" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "1596delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51078405del" "" "pathogenic" "ACMG" "0000078801" "0" "99" "18" "48575670" "48575671" "del" "0" "00004" "SMAD4_000039" "g.48575670_48575671del" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "430-431delTC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51049300_51049301del" "" "pathogenic" "ACMG" "0000078802" "0" "99" "18" "48584558" "48584559" "ins" "0" "00004" "SMAD4_000045" "g.48584558_48584559insGCCC" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "729-730insCCGC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767335" "0" "" "" "g.51058188_51058189insGCCC" "" "pathogenic" "ACMG" "0000078803" "0" "99" "18" "48586256" "48586259" "dup" "0" "00004" "SMAD4_000047" "g.48586256_48586259dup" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "925-928dupGCAT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51059886_51059889dup" "" "pathogenic" "ACMG" "0000078804" "0" "99" "18" "48591819" "48591819" "dup" "0" "00004" "SMAD4_000017" "g.48591819dup" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "982-983insT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51065449dup" "" "pathogenic" "ACMG" "0000078805" "0" "99" "18" "48604774" "48604775" "delins" "0" "00004" "SMAD4_000069" "g.48604774_48604775delinsT" "" "{PMID:Gallione 2006:16613914}" "" "1596_1597delCCinsT" "" "Germline" "" "" "0" "" "" "g.51078404_51078405delinsT" "" "pathogenic (dominant)" "" "0000078806" "0" "99" "18" "48575659" "48575659" "subst" "0" "00004" "SMAD4_000131" "g.48575659A>G" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "rs377767327" "0" "" "" "g.51049289A>G" "" "pathogenic" "" "0000078807" "0" "99" "18" "48591976" "48591976" "subst" "0" "00004" "SMAD4_000132" "g.48591976G>A" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.51065606G>A" "" "pathogenic" "" "0000078808" "0" "99" "18" "48575677" "48575677" "subst" "0" "00004" "SMAD4_000040" "g.48575677T>A" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.51049307T>A" "" "pathogenic" "" "0000078809" "0" "99" "18" "48591924" "48591924" "subst" "0" "00004" "SMAD4_000026" "g.48591924T>C" "" "{PMID:Aretz 2007:17873119}" "" "" "" "De novo" "" "" "0" "" "" "g.51065554T>C" "" "pathogenic" "" "0000078810" "0" "99" "18" "48603120" "48603120" "del" "0" "00004" "SMAD4_000056" "g.48603120del" "" "{PMID:Aretz 2007:17873119}" "" "1421delC" "" "Germline" "" "" "0" "" "" "g.51076750del" "" "pathogenic" "" "0000078811" "0" "95" "18" "48591807" "48591807" "subst" "0" "00004" "SMAD4_000048" "g.48591807T>C" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "" "ACMG PM2, PP3" "Germline" "" "rs377767339" "0" "" "" "g.51065437T>C" "" "pathogenic" "ACMG" "0000078812" "0" "95" "18" "48593442" "48593442" "subst" "0" "00004" "SMAD4_000034" "g.48593442G>A" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "" "ACMG PM4, PP2, PP3" "Germline" "" "rs377767357" "0" "" "" "g.51067072G>A" "" "pathogenic" "ACMG" "0000078813" "0" "99" "18" "48591808" "48591808" "del" "0" "00004" "SMAD4_000016" "g.48591808del" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "971delG" "ACMG PP3, PM2, PVS1, PM4" "Germline" "" "rs377767340" "0" "" "" "g.51065438del" "" "pathogenic" "ACMG" "0000078814" "0" "99" "18" "48604765" "48604765" "dup" "0" "00004" "SMAD4_000066" "g.48604765dup" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "1587dupA" "ACMG PS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51078395dup" "" "pathogenic" "ACMG" "0000078815" "0" "99" "18" "48604705" "48604705" "subst" "0" "00004" "SMAD4_000058" "g.48604705G>A" "" "{PMID:Pintiliciuc 2008:18355998}, {DOI:Pintiliciuc 2008:10.1016/j.gcb.2007.11.008}" "" "1527G>A | W509X" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767370" "0" "" "" "g.51078335G>A" "" "pathogenic" "ACMG" "0000078816" "0" "99" "18" "48591977" "48591977" "subst" "0" "00645" "SMAD4_000076" "g.48591977G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs377767354" "0" "" "" "g.51065607G>A" "" "pathogenic" "ACMG" "0000078817" "0" "99" "18" "48575179" "48575180" "ins" "0" "00004" "SMAD4_000062" "g.48575179_48575180insAT" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "373_4insAT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767324" "0" "" "" "g.51048809_51048810insAT" "" "pathogenic" "ACMG" "0000078818" "0" "95" "18" "48575108" "48575108" "subst" "0" "00004" "SMAD4_000077" "g.48575108G>A" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "302G>A | W101X" "ACMG PM2, PM4, PP3" "Germline" "" "rs377767323" "0" "" "" "g.51048738G>A" "" "pathogenic" "ACMG" "0000078819" "0" "95" "18" "48591825" "48591825" "subst" "0" "00004" "SMAD4_000018" "g.48591825G>A" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PM2, PP3" "Germline" "" "rs377767342" "0" "" "" "g.51065455G>A" "" "pathogenic" "ACMG" "0000078820" "0" "95" "18" "48591892" "48591892" "subst" "0" "00004" "SMAD4_000020" "g.48591892G>A" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "rs377767345" "0" "" "" "g.51065522G>A" "" "pathogenic" "ACMG" "0000078821" "0" "95" "18" "48591919" "48591919" "subst" "0" "00004" "SMAD4_000025" "g.48591919G>T" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PM2, PP3, PM5" "Germline" "" "rs377767347" "0" "" "" "g.51065549G>T" "" "pathogenic" "ACMG" "0000078822" "0" "99" "18" "48593397" "48593397" "subst" "0" "00004" "SMAD4_000031" "g.48593397T>A" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PS2, PM2, PM5, PP3" "De novo" "" "rs377767355" "0" "" "" "g.51067027T>A" "" "pathogenic" "ACMG" "0000078823" "0" "99" "18" "48604776" "48604776" "subst" "0" "00004" "SMAD4_000072" "g.48604776T>C" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PS1, PM2, PP3" "Germline" "" "rs377767382" "0" "" "" "g.51078406T>C" "" "pathogenic" "ACMG" "0000078824" "0" "95" "18" "48591939" "48591940" "del" "0" "00004" "SMAD4_000029" "g.48591939_48591940del" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "1102_1103delTC" "ACMG PP3, PM4, PM2" "Germline" "" "" "0" "" "" "g.51065569_51065570del" "" "pathogenic" "ACMG" "0000078825" "0" "99" "18" "48604764" "48604765" "dup" "0" "00004" "SMAD4_000065" "g.48604764_48604765dup" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "1586_1587dupTA" "ACMG PS2, PM2, PM4, PM5, PP3" "De novo" "" "rs377767376" "0" "" "" "g.51078394_51078395dup" "" "pathogenic" "ACMG" "0000078826" "0" "99" "18" "48593477" "48593478" "del" "0" "00004" "SMAD4_000035" "g.48593477_48593478del" "" "{PMID:Iyer 2010:20685751}" "" "1228_1229delCA" "" "Germline" "" "" "0" "" "" "g.51067107_51067108del" "" "pathogenic (dominant)" "" "0000078827" "0" "55" "18" "48603049" "48603049" "subst" "0" "00004" "SMAD4_000053" "g.48603049G>A" "" "{PMID:Tram 2011:21835029}, {DOI:Tram 2011:10.1185/bcr2926}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51076679G>A" "" "VUS" "ACMG" "0000078828" "0" "95" "18" "48573454" "48573454" "subst" "0.00000406329" "00233" "SMAD4_000004" "g.48573454A>G" "" "{PMID:Nasim 2011:21898662}, {EXP:066870}, {DOI:Nasim 2011:10.1002/humu.21605}" "" "" "rare variant found in a patient with pulmonary arterial hypertension; ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51047084A>G" "" "pathogenic" "ACMG" "0000078829" "0" "95" "18" "48591826" "48591826" "subst" "0" "00233" "SMAD4_000005" "g.48591826A>G" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}, {EXP:022833}" "" "" "ACMG PM2, PP3" "Unknown" "" "rs281875324" "0" "" "" "g.51065456A>G" "" "pathogenic" "ACMG" "0000078830" "0" "95" "18" "48591891" "48591891" "subst" "0" "00233" "SMAD4_000006" "g.48591891G>A" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}, {EXP:019571}" "" "" "ACMG PM2, PP3" "Unknown" "" "rs121912581" "0" "" "" "g.51065521G>A" "" "pathogenic" "ACMG" "0000078831" "1" "95" "18" "48591891" "48591891" "subst" "0" "00233" "SMAD4_000006" "g.48591891G>A" "" "{PMID:Gallione 2004:15031030}, {EXP:019571}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51065521G>A" "" "pathogenic (dominant)" "" "0000078832" "0" "95" "18" "48591918" "48591918" "subst" "0" "00233" "SMAD4_000007" "g.48591918C>T" "" "{PMID:Houlston 1998:9811934}, {EXP:019572}, {DOI:Houlston 1998:10.1093/hmg/7.12.1907}" "" "" "Somatic mutation" "Somatic" "" "rs80338963" "0" "" "" "g.51065548C>T" "" "pathogenic" "" "0000078833" "1" "95" "18" "48593406" "48593406" "subst" "0" "00233" "SMAD4_000008" "g.48593406G>A" "" "{PMID:Gallione 2004:15031030} {EXP:019573}" "" "" "de novo in parent" "De novo" "" "" "0" "" "" "g.51067036G>A" "" "pathogenic (dominant)" "" "0000078834" "0" "99" "18" "48604676" "48604676" "subst" "0.00000406121" "00233" "SMAD4_000003" "g.48604676A>G" "" "{PMID:Caputo 2012:22243968}, {EXP:067604, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "" "ACMG PS2, PM2, PP3" "Unknown" "" "rs281875321" "0" "" "" "g.51078306A>G" "" "pathogenic" "ACMG" "0000078835" "0" "95" "18" "48604676" "48604676" "subst" "0.00000406121" "00233" "SMAD4_000003" "g.48604676A>G" "" "{PMID:Le Goff 2011:22158539} {EXP:067604}" "" "" "" "Unknown" "" "" "0" "" "" "g.51078306A>G" "" "pathogenic" "" "0000078836" "0" "99" "18" "48604677" "48604677" "subst" "0" "00233" "SMAD4_000002" "g.48604677T>C" "" "{PMID:Caputo 2012:22243968}, {EXP:067603}, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "" "ACMG PS2, PM2, PP3" "Unknown" "" "rs281875322" "0" "" "" "g.51078307T>C" "" "pathogenic" "ACMG" "0000078837" "0" "95" "18" "48604677" "48604677" "subst" "0" "00233" "SMAD4_000002" "g.48604677T>C" "" "{PMID:Le Goff 2011:22158539} {EXP:067603}" "" "" "" "Unknown" "" "" "0" "" "" "g.51078307T>C" "" "pathogenic" "" "0000078838" "0" "95" "18" "48604678" "48604678" "subst" "0" "00233" "SMAD4_000001" "g.48604678A>G" "" "{PMID:Le Goff 2011:22158539} {EXP:067602}" "" "" "" "Unknown" "" "" "0" "" "" "g.51078308A>G" "" "pathogenic" "" "0000079320" "0" "90" "18" "48604676" "48604676" "subst" "0.00000406121" "00006" "SMAD4_000003" "g.48604676A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.51078306A>G" "" "pathogenic" "" "0000079672" "0" "90" "18" "48362664" "78015180" "del" "0" "00006" "ATP8B1_000025" "g.48362664_78015180del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.46 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000149053" "1" "50" "18" "48581153" "48581153" "subst" "0.00000406425" "01816" "SMAD4_000087" "g.48581153C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.51054783C>T" "" "VUS" "" "0000149054" "1" "50" "18" "48581162" "48581162" "subst" "0.00000406213" "01816" "SMAD4_000088" "g.48581162A>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.51054792A>T" "" "VUS" "" "0000149055" "1" "50" "18" "48581261" "48581261" "subst" "0.000300503" "01816" "SMAD4_000083" "g.48581261C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.51054891C>T" "" "VUS" "" "0000149056" "1" "50" "18" "48591943" "48591943" "subst" "0.0000243706" "01816" "SMAD4_000084" "g.48591943A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.51065573A>G" "" "VUS" "" "0000149057" "1" "50" "18" "48593466" "48593466" "subst" "0" "01816" "SMAD4_000085" "g.48593466C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.51067096C>T" "" "VUS" "" "0000149058" "1" "90" "18" "48593494" "48593497" "del" "0" "01816" "SMAD4_000182" "g.48593494_48593497del" "" "Thibodeau lab (Mayo Clinic)" "" "48593491delAGAC" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "" "0000149059" "1" "50" "18" "48604751" "48604751" "subst" "0.000560438" "01816" "SMAD4_000086" "g.48604751A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.51078381A>G" "" "VUS" "" "0000149060" "1" "50" "18" "48604751" "48604751" "subst" "0.000560438" "01816" "SMAD4_000086" "g.48604751A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.51078381A>G" "" "VUS" "" "0000171997" "0" "90" "18" "48591841" "48591842" "ins" "0" "01741" "SMAD4_000082" "g.48591841_48591842insTCAGGTTCAGGTTCAGGTTC" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51065471_51065472insTCAGGTTCAGGTTCAGGTTC" "" "pathogenic" "" "0000247497" "0" "30" "18" "48604751" "48604751" "subst" "0.000560438" "02330" "SMAD4_000086" "g.48604751A>G" "" "" "" "SMAD4(NM_005359.5):c.1573A>G (p.I525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078381A>G" "" "likely benign" "" "0000249738" "0" "50" "18" "48584794" "48584794" "subst" "0" "02325" "SMAD4_000099" "g.48584794A>C" "" "" "" "SMAD4(NM_005359.5):c.872A>C (p.H291P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51058424A>C" "" "VUS" "" "0000249967" "0" "30" "18" "48604751" "48604751" "subst" "0.000560438" "02329" "SMAD4_000086" "g.48604751A>G" "" "" "" "SMAD4(NM_005359.5):c.1573A>G (p.I525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078381A>G" "" "likely benign" "" "0000250323" "0" "30" "18" "48573644" "48573644" "subst" "0.000036616" "02329" "SMAD4_000093" "g.48573644A>G" "" "" "" "SMAD4(NM_005359.5):c.228A>G (p.R76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51047274A>G" "" "likely benign" "" "0000250485" "0" "30" "18" "48575046" "48575046" "subst" "0" "02329" "SMAD4_000095" "g.48575046A>G" "" "" "" "SMAD4(NM_005359.5):c.250-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51048676A>G" "" "likely benign" "" "0000251920" "0" "30" "18" "48584802" "48584802" "subst" "0.000125888" "02326" "SMAD4_000100" "g.48584802A>G" "" "" "" "SMAD4(NM_005359.5):c.880A>G (p.M294V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51058432A>G" "" "likely benign" "" "0000252521" "0" "90" "18" "48604676" "48604676" "subst" "0.00000406121" "02326" "SMAD4_000003" "g.48604676A>G" "" "" "" "SMAD4(NM_005359.5):c.1498A>G (p.I500V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078306A>G" "" "pathogenic" "" "0000254058" "0" "30" "18" "48604751" "48604751" "subst" "0.000560438" "01943" "SMAD4_000086" "g.48604751A>G" "" "" "" "SMAD4(NM_005359.5):c.1573A>G (p.I525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078381A>G" "" "likely benign" "" "0000255765" "0" "90" "18" "48593387" "48593387" "subst" "0" "01943" "SMAD4_000110" "g.48593387A>G" "" "" "" "SMAD4(NM_005359.5):c.1140-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51067017A>G" "" "pathogenic" "" "0000256736" "0" "50" "18" "48573288" "48573288" "subst" "0" "01943" "SMAD4_000091" "g.48573288A>T" "" "" "" "SMAD4(NM_005359.5):c.-127-2A>T (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51046918A>T" "" "VUS" "" "0000296039" "0" "10" "18" "48604848" "48604848" "subst" "0.00508409" "02330" "SMAD4_000114" "g.48604848C>T" "" "" "" "SMAD4(NM_005359.5):c.*11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078478C>T" "" "benign" "" "0000296040" "0" "10" "18" "48591923" "48591923" "subst" "0.00185608" "02330" "SMAD4_000109" "g.48591923T>C" "" "" "" "SMAD4(NM_005359.5):c.1086T>C (p.F362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51065553T>C" "" "benign" "" "0000296042" "0" "30" "18" "48573679" "48573679" "subst" "0.0000122984" "02330" "SMAD4_000094" "g.48573679G>A" "" "" "" "SMAD4(NM_005359.5):c.249+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51047309G>A" "" "likely benign" "" "0000296043" "0" "10" "18" "48575160" "48575160" "subst" "0.00277006" "02330" "SMAD4_000096" "g.48575160G>A" "" "" "" "SMAD4(NM_005359.5):c.354G>A (p.A118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51048790G>A" "" "benign" "" "0000296044" "0" "30" "18" "48586304" "48586304" "subst" "0.0000528425" "02330" "SMAD4_000105" "g.48586304T>C" "" "" "" "SMAD4(NM_005359.5):c.955+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51059934T>C" "" "likely benign" "" "0000298376" "0" "30" "18" "48573437" "48573437" "subst" "0.0000609558" "02325" "SMAD4_000092" "g.48573437G>A" "" "" "" "SMAD4(NM_005359.5):c.21G>A (p.T7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51047067G>A" "" "likely benign" "" "0000298377" "0" "30" "18" "48575160" "48575160" "subst" "0.00277006" "02325" "SMAD4_000096" "g.48575160G>A" "" "" "" "SMAD4(NM_005359.5):c.354G>A (p.A118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51048790G>A" "" "likely benign" "" "0000298378" "0" "30" "18" "48584837" "48584837" "subst" "0" "02325" "SMAD4_000101" "g.48584837G>A" "" "" "" "SMAD4(NM_005359.5):c.904+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51058467G>A" "" "likely benign" "" "0000298379" "0" "30" "18" "48591777" "48591777" "subst" "0" "02325" "SMAD4_000106" "g.48591777C>T" "" "" "" "SMAD4(NM_005359.5):c.956-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51065407C>T" "" "likely benign" "" "0000299594" "0" "30" "18" "48573279" "48573280" "del" "0" "02329" "SMAD4_000089" "g.48573279_48573280del" "" "" "" "SMAD4(NM_005359.5):c.-127-11_-127-10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51046909_51046910del" "" "likely benign" "" "0000299595" "0" "30" "18" "48573281" "48573281" "subst" "0" "02329" "SMAD4_000090" "g.48573281C>T" "" "" "" "SMAD4(NM_005359.5):c.-127-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51046911C>T" "" "likely benign" "" "0000299596" "0" "10" "18" "48575160" "48575160" "subst" "0.00277006" "02329" "SMAD4_000096" "g.48575160G>A" "" "" "" "SMAD4(NM_005359.5):c.354G>A (p.A118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51048790G>A" "" "benign" "" "0000299597" "0" "30" "18" "48581262" "48581262" "subst" "0.0000203047" "02329" "SMAD4_000098" "g.48581262G>A" "" "" "" "SMAD4(NM_005359.5):c.566G>A (p.R189H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51054892G>A" "" "likely benign" "" "0000299598" "0" "30" "18" "48586233" "48586233" "subst" "0.00000812513" "02329" "SMAD4_000103" "g.48586233T>C" "" "" "" "SMAD4(NM_005359.5):c.905-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51059863T>C" "" "likely benign" "" "0000299599" "0" "50" "18" "48586257" "48586257" "subst" "0" "02329" "SMAD4_000104" "g.48586257C>T" "" "" "" "SMAD4(NM_005359.5):c.926C>T (p.A309V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51059887C>T" "" "VUS" "" "0000302325" "0" "30" "18" "48604848" "48604848" "subst" "0.00508409" "02326" "SMAD4_000114" "g.48604848C>T" "" "" "" "SMAD4(NM_005359.5):c.*11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078478C>T" "" "likely benign" "" "0000302326" "0" "90" "18" "48591912" "48591912" "subst" "0" "02326" "SMAD4_000108" "g.48591912G>T" "" "" "" "SMAD4(NM_005359.5):c.1075G>T (p.G359*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51065542G>T" "" "pathogenic" "" "0000302327" "0" "90" "18" "48591918" "48591918" "subst" "0" "02326" "SMAD4_000007" "g.48591918C>T" "" "" "" "SMAD4(NM_005359.5):c.1081C>T (p.R361C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51065548C>T" "" "pathogenic" "" "0000302328" "0" "50" "18" "48593406" "48593406" "subst" "0" "02326" "SMAD4_000008" "g.48593406G>A" "" "" "" "SMAD4(NM_005359.5):c.1157G>A (p.G386D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51067036G>A" "" "VUS" "" "0000302329" "0" "10" "18" "48603091" "48603091" "subst" "0.000280438" "02326" "SMAD4_000111" "g.48603091C>T" "" "" "" "SMAD4(NM_005359.5):c.1392C>T (p.A464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51076721C>T" "" "benign" "" "0000302330" "0" "70" "18" "48604750" "48604750" "subst" "0" "02326" "SMAD4_000113" "g.48604750G>C" "" "" "" "SMAD4(NM_005359.5):c.1572G>C (p.W524C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078380G>C" "" "likely pathogenic" "" "0000302331" "0" "50" "18" "48584840" "48584840" "subst" "0.0000490372" "02326" "SMAD4_000102" "g.48584840T>C" "" "" "" "SMAD4(NM_005359.5):c.904+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51058470T>C" "" "VUS" "" "0000308570" "0" "50" "18" "48591883" "48591883" "subst" "0.0000243685" "01943" "SMAD4_000107" "g.48591883C>T" "" "" "" "SMAD4(NM_005359.5):c.1046C>T (p.T349I, p.(Thr349Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51065513C>T" "" "VUS" "" "0000308571" "0" "30" "18" "48591923" "48591923" "subst" "0.00185608" "01943" "SMAD4_000109" "g.48591923T>C" "" "" "" "SMAD4(NM_005359.5):c.1086T>C (p.F362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51065553T>C" "" "likely benign" "" "0000308572" "0" "30" "18" "48575160" "48575160" "subst" "0.00277006" "01943" "SMAD4_000096" "g.48575160G>A" "" "" "" "SMAD4(NM_005359.5):c.354G>A (p.A118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51048790G>A" "" "likely benign" "" "0000308573" "0" "90" "18" "48575692" "48575692" "dup" "0" "01943" "SMAD4_000097" "g.48575692dup" "" "" "" "SMAD4(NM_005359.5):c.452dupA (p.N151Kfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51049322dup" "" "pathogenic" "" "0000338292" "0" "10" "18" "48575249" "48575249" "subst" "0.00000814445" "02327" "SMAD4_000116" "g.48575249C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51048879C>A" "" "benign" "" "0000338294" "0" "10" "18" "48586184" "48586184" "subst" "0" "02327" "SMAD4_000118" "g.48586184A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51059814A>G" "" "benign" "" "0000338295" "0" "10" "18" "48586344" "48586344" "subst" "0" "02327" "SMAD4_000119" "g.48586344C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51059974C>T" "" "benign" "" "0000338296" "0" "90" "18" "48593388" "48593388" "subst" "0" "02327" "SMAD4_000120" "g.48593388G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51067018G>A" "" "pathogenic" "" "0000338301" "0" "10" "18" "48604848" "48604848" "subst" "0.00508409" "02327" "SMAD4_000114" "g.48604848C>T" "" "" "" "SMAD4(NM_005359.5):c.*11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078478C>T" "" "benign" "" "0000340882" "0" "30" "18" "48591923" "48591923" "subst" "0.00185608" "02327" "SMAD4_000109" "g.48591923T>C" "" "" "" "SMAD4(NM_005359.5):c.1086T>C (p.F362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51065553T>C" "" "likely benign" "" "0000342146" "0" "30" "18" "48581261" "48581261" "subst" "0.000300503" "02327" "SMAD4_000083" "g.48581261C>T" "" "" "" "SMAD4(NM_005359.5):c.565C>T (p.R189C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51054891C>T" "" "likely benign" "" "0000342731" "0" "90" "18" "48591919" "48591919" "subst" "0" "02327" "SMAD4_000024" "g.48591919G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51065549G>A" "" "pathogenic" "" "0000345470" "0" "90" "18" "48604736" "48604736" "subst" "0" "02327" "SMAD4_000124" "g.48604736G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078366G>T" "" "pathogenic" "" "0000346750" "0" "90" "18" "48604676" "48604676" "subst" "0.00000406121" "02327" "SMAD4_000003" "g.48604676A>G" "" "" "" "SMAD4(NM_005359.5):c.1498A>G (p.I500V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51078306A>G" "" "pathogenic" "" "0000350053" "0" "90" "18" "48591895" "48591895" "subst" "0" "02327" "SMAD4_000021" "g.48591895A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51065525A>C" "" "pathogenic" "" "0000408626" "0" "90" "18" "48593494" "48593497" "del" "0" "02940" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "" "0000408627" "0" "90" "18" "48593477" "48593477" "subst" "0" "02940" "SMAD4_000126" "g.48593477C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.51067107C>T" "" "pathogenic" "" "0000408628" "0" "90" "18" "48604705" "48604705" "subst" "0" "02940" "SMAD4_000058" "g.48604705G>A" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.51078335G>A" "" "pathogenic" "" "0000439056" "0" "50" "18" "48575659" "48575659" "subst" "0" "01164" "SMAD4_000128" "g.48575659A>G" "" "" "" "" "ACMG grading: PM2,PP3 (Aretz 2007. J Med Genet 44: 702); CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS" "Germline" "" "rs377767327" "0" "" "" "g.51049289A>G" "" "VUS" "ACMG" "0000439058" "0" "50" "18" "48575235" "48575235" "subst" "0.000207651" "01164" "SMAD4_000127" "g.48575235G>A" "" "" "" "" "ACMG grading: PP3; This variant was sigma-ca at age 52y, MSS, no loss of MMR genes in IHC; several cancers in maternal side (CRC and BC);" "Germline" "" "rs200772603" "0" "" "" "g.51048865G>A" "" "VUS" "ACMG" "0000454281" "0" "50" "18" "48575235" "48575235" "subst" "0.000207651" "00770" "SMAD4_000127" "g.48575235G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51048865G>A" "" "VUS" "" "0000454609" "0" "55" "18" "48556583" "48611412" "del" "0" "00645" "SMAD4_000139" "g.(?_48556583)_(48611412_?)del" "" "{DOI:Soer 2015:10.1007/s10689-015-9822-z}" "" "complete gene deletion" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454610" "0" "55" "18" "48556583" "48611412" "del" "0" "00645" "SMAD4_000139" "g.(?_48556583)_(48611412_?)del" "" "{DOI:Soer 2015:10.1007/s10689-015-9822-z}" "" "complete gene deletion" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454611" "0" "55" "18" "48556583" "48611412" "del" "0" "00645" "SMAD4_000139" "g.(?_48556583)_(48611412_?)del" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "hemizygous deletion" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454612" "0" "55" "18" "48589040" "48592683" "dup" "0" "00645" "SMAD4_000154" "g.(48586287_48591792)_(48591977_48593388)dup" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "dup ex8" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454613" "0" "55" "18" "48589040" "48592683" "dup" "0" "00645" "SMAD4_000154" "g.(48586287_48591792)_(48591977_48593388)dup" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "dup ex8" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454614" "0" "95" "18" "48603020" "48603020" "subst" "0" "00645" "SMAD4_000165" "g.48603020C>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51076650C>A" "" "pathogenic" "ACMG" "0000454615" "0" "95" "18" "48603020" "48603020" "subst" "0" "00645" "SMAD4_000165" "g.48603020C>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51076650C>A" "" "pathogenic" "ACMG" "0000454616" "0" "99" "18" "48603024" "48603025" "del" "0" "00645" "SMAD4_000166" "g.48603024_48603025del" "" "{DOI:Jelsig 2015:10.1111/cge.12693}" "" "1325-1326delAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51076654_51076655del" "" "pathogenic" "ACMG" "0000454617" "0" "99" "18" "48603024" "48603025" "del" "0" "00645" "SMAD4_000166" "g.48603024_48603025del" "" "{DOI:Jelsig 2015:10.1111/cge.12693}" "" "1325-1326delAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51076654_51076655del" "" "pathogenic" "ACMG" "0000454618" "0" "99" "18" "48603024" "48603025" "del" "0" "00645" "SMAD4_000166" "g.48603024_48603025del" "" "{DOI:Jelsig 2015:10.1111/cge.12693}" "" "1325-1326delAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51076654_51076655del" "" "pathogenic" "ACMG" "0000454619" "0" "99" "18" "48603024" "48603025" "del" "0" "00645" "SMAD4_000166" "g.48603024_48603025del" "" "{DOI:Jelsig 2015:10.1111/cge.12693}" "" "1325-1326delAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51076654_51076655del" "" "pathogenic" "ACMG" "0000454620" "0" "59" "18" "48603032" "48603032" "subst" "0.00000406359" "00645" "SMAD4_000051" "g.48603032C>T" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "ACMG PVS1, PM4, PP3" "Germline" "" "rs377767360" "0" "" "" "g.51076662C>T" "" "VUS" "ACMG" "0000454621" "0" "59" "18" "48603032" "48603032" "subst" "0.00000406359" "00645" "SMAD4_000051" "g.48603032C>T" "" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "" "ACMG PVS1, PM4, PP3, PP5" "Germline" "" "rs377767360" "0" "" "" "g.51076662C>T" "" "VUS" "ACMG" "0000454622" "0" "59" "18" "48603042" "48603064" "del" "0" "00645" "SMAD4_000167" "g.48603042_48603064del" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "1343_65del22" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767362" "0" "" "" "g.51076672_51076694del" "" "VUS" "ACMG" "0000454623" "0" "99" "18" "48603042" "48603064" "del" "0" "00645" "SMAD4_000167" "g.48603042_48603064del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "1343_65del22" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs377767362" "0" "" "" "g.51076672_51076694del" "" "pathogenic" "ACMG" "0000454624" "0" "99" "18" "48603042" "48603064" "del" "0" "00645" "SMAD4_000167" "g.48603042_48603064del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "del1343-1365" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767362" "0" "" "" "g.51076672_51076694del" "" "pathogenic" "ACMG" "0000454625" "0" "59" "18" "48603042" "48603066" "del" "0" "00645" "SMAD4_000168" "g.48603042_48603066del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1343_1367del25" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51076672_51076696del" "" "VUS" "ACMG" "0000454626" "0" "59" "18" "48603042" "48603066" "del" "0" "00645" "SMAD4_000168" "g.48603042_48603066del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1343_1367del25" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51076672_51076696del" "" "VUS" "ACMG" "0000454627" "0" "59" "18" "48603042" "48603066" "del" "0" "00645" "SMAD4_000168" "g.48603042_48603066del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1343_1367del25" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51076672_51076696del" "" "VUS" "ACMG" "0000454628" "0" "59" "18" "48603062" "48603062" "subst" "0" "00645" "SMAD4_000169" "g.48603062C>T" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51076692C>T" "" "VUS" "ACMG" "0000454629" "0" "59" "18" "48603062" "48603062" "subst" "0" "00645" "SMAD4_000169" "g.48603062C>T" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51076692C>T" "" "VUS" "ACMG" "0000454630" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Roth 1999:10441006}, {DOI:Roth 1999:10.1002/(SICI)1098-2264(199909)26:1<54::AID-GCC8>3.0.CO;2-D}" "" "1372-1375del" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454631" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Roth 1999:10441006}, {DOI:Roth 1999:10.1002/(SICI)1098-2264(199909)26:1<54::AID-GCC8>3.0.CO;2-D}" "" "1372-1375del" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454632" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Roth 1999:10441006}, {DOI:Roth 1999:10.1002/(SICI)1098-2264(199909)26:1<54::AID-GCC8>3.0.CO;2-D}" "" "1372-1375del" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454633" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Roth 1999:10441006}, {DOI:Roth 1999:10.1002/(SICI)1098-2264(199909)26:1<54::AID-GCC8>3.0.CO;2-D}" "" "1372-1375del" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454634" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Roth 1999:10441006}, {DOI:Roth 1999:10.1002/(SICI)1098-2264(199909)26:1<54::AID-GCC8>3.0.CO;2-D}" "" "1372-1375del" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454635" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Piepoli 2012:10.1016/j.dld.2012.05.019}" "" "1372_1375del" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454636" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Piepoli 2012:10.1016/j.dld.2012.05.019}" "" "1372_1375del" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454637" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Piepoli 2012:10.1016/j.dld.2012.05.019}" "" "1372_1375del" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454638" "0" "99" "18" "48603071" "48603074" "del" "0" "00645" "SMAD4_000170" "g.48603071_48603074del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "1372-1375delACAG" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51076701_51076704del" "" "pathogenic" "ACMG" "0000454639" "0" "99" "18" "48603071" "48603074" "del" "0" "00645" "SMAD4_000170" "g.48603071_48603074del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "1372-1375delACAG" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51076701_51076704del" "" "pathogenic" "ACMG" "0000454640" "0" "55" "18" "48603092" "48603092" "subst" "0" "00645" "SMAD4_000171" "g.48603092G>A" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "" "0" "" "" "g.51076722G>A" "" "VUS" "ACMG" "0000454641" "0" "59" "18" "48603110" "48603134" "del" "0" "00645" "SMAD4_000172" "g.48603110_48603134del" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "1411-1435del25" "ACMG PP3, PM2, PVS1, PM4" "Germline" "" "rs377767365" "0" "" "" "g.51076740_51076764del" "" "VUS" "ACMG" "0000454642" "0" "59" "18" "48603110" "48603134" "del" "0" "00645" "SMAD4_000172" "g.48603110_48603134del" "" "{DOI:Langeveld 2010:10.1158/1078-0432.ccr-10-0168}" "" "1411-1435del25" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767365" "0" "" "" "g.51076740_51076764del" "" "VUS" "ACMG" "0000454643" "0" "99" "18" "48603120" "48603120" "del" "0" "00645" "SMAD4_000056" "g.48603120del" "" "{DOI:Jelsig 2015:10.1111/cge.12693}" "" "142delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767366" "0" "" "" "g.51076750del" "" "pathogenic" "ACMG" "0000454644" "0" "99" "18" "48603120" "48603120" "del" "0" "00645" "SMAD4_000056" "g.48603120del" "" "{DOI:Jelsig 2015:10.1111/cge.12693}" "" "142delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767366" "0" "" "" "g.51076750del" "" "pathogenic" "ACMG" "0000454645" "0" "99" "18" "48603120" "48603120" "del" "0" "00645" "SMAD4_000056" "g.48603120del" "" "{DOI:Jelsig 2015:10.1111/cge.12693}" "" "142delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767366" "0" "" "" "g.51076750del" "" "pathogenic" "ACMG" "0000454646" "0" "59" "18" "48603120" "48603120" "subst" "0" "00645" "SMAD4_000173" "g.48603120C>G" "" "{DOI:Honda 2013:10.1007/s12328-013-0413-y}" "" "" "ACMG PVS1, PM2, PM4" "Germline" "" "" "0" "" "" "g.51076750C>G" "" "VUS" "ACMG" "0000454647" "0" "59" "18" "48603120" "48603120" "subst" "0" "00645" "SMAD4_000173" "g.48603120C>G" "" "{DOI:Honda 2013:10.1007/s12328-013-0413-y}" "" "" "ACMG PVS1, PM2, PM4" "Germline" "" "" "0" "" "" "g.51076750C>G" "" "VUS" "ACMG" "0000454648" "0" "59" "18" "48603147" "48603147" "subst" "0" "00645" "SMAD4_000174" "g.48603147G>A" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs377767387" "0" "" "" "g.51076777G>A" "" "VUS" "ACMG" "0000454649" "0" "59" "18" "48603147" "48603147" "subst" "0" "00645" "SMAD4_000174" "g.48603147G>A" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "rs377767387" "0" "" "" "g.51076777G>A" "" "VUS" "ACMG" "0000454650" "0" "59" "18" "48603147" "48603147" "subst" "0" "00645" "SMAD4_000174" "g.48603147G>A" "" "{DOI:Schwenter 2011:10.1097/MPG.0b013e3182238514}" "" "" "ACMG PM2, PM5, PP3, PVS1" "Germline" "" "rs377767387" "0" "" "" "g.51076777G>A" "" "VUS" "ACMG" "0000454651" "0" "59" "18" "48603147" "48603147" "subst" "0" "00645" "SMAD4_000174" "g.48603147G>A" "" "{DOI:Schwenter 2011:10.1097/MPG.0b013e3182238514}" "" "" "ACMG PM2, PM5, PP3, PVS1" "Germline" "" "rs377767387" "0" "" "" "g.51076777G>A" "" "VUS" "ACMG" "0000454652" "0" "59" "18" "48603147" "48603147" "subst" "0" "00645" "SMAD4_000174" "g.48603147G>A" "" "{DOI:Schwenter 2011:10.1097/MPG.0b013e3182238514}" "" "" "ACMG PM2, PM5, PP3, PVS1" "Germline" "" "rs377767387" "0" "" "" "g.51076777G>A" "" "VUS" "ACMG" "0000454653" "0" "59" "18" "48604620" "48604620" "subst" "0" "00645" "SMAD4_000178" "g.48604620C>T" "" "{PMID:Nasim 2011:21898662}, {DOI:Nasim 2011:10.1002/humu.21605}" "" "" "ACMG PVS1, PM2, PP3\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" "ACMG" "0000454654" "0" "99" "18" "48604676" "48604676" "subst" "0.00000406121" "00645" "SMAD4_000003" "g.48604676A>G" "" "{PMID:Caputo 2012:22243968}, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "" "ACMG PS2, PM2, PP3" "Germline" "" "rs281875322" "0" "" "" "g.51078306A>G" "" "pathogenic" "ACMG" "0000454655" "0" "99" "18" "48604676" "48604676" "subst" "0.00000406121" "00645" "SMAD4_000003" "g.48604676A>G" "" "{PMID:Caputo 2012:22243968}, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "" "ACMG PS2, PM2, PP3" "Germline" "" "rs281875322" "0" "" "" "g.51078306A>G" "" "pathogenic" "ACMG" "0000454656" "0" "99" "18" "48604676" "48604676" "subst" "0.00000406121" "00645" "SMAD4_000003" "g.48604676A>G" "" "{PMID:Caputo 2012:22243968}, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "" "ACMG PS2, PM2, PP3" "Germline" "" "rs281875322" "0" "" "" "g.51078306A>G" "" "pathogenic" "ACMG" "0000454657" "0" "99" "18" "48604676" "48604676" "subst" "0.00000406121" "00645" "SMAD4_000003" "g.48604676A>G" "" "{PMID:Caputo 2012:22243968}, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "" "ACMG PS2, PM2, PP3" "Germline" "" "rs281875322" "0" "" "" "g.51078306A>G" "" "pathogenic" "ACMG" "0000454658" "0" "99" "18" "48604677" "48604677" "subst" "0" "00645" "SMAD4_000002" "g.48604677T>C" "" "{PMID:Caputo 2012:22243968}, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "" "ACMG PS2, PM2, PP3" "Germline" "" "rs281175321" "0" "" "" "g.51078307T>C" "" "pathogenic" "ACMG" "0000454659" "0" "99" "18" "48604677" "48604677" "subst" "0" "00645" "SMAD4_000002" "g.48604677T>C" "" "{PMID:Caputo 2012:22243968}, {DOI:Caputo 2012:10.1016/j.ajhg.2011.12.011}" "" "" "ACMG PS2, PM2, PP3" "Germline" "" "rs281175321" "0" "" "" "g.51078307T>C" "" "pathogenic" "ACMG" "0000454660" "0" "99" "18" "48604685" "48604686" "ins" "0" "00645" "SMAD4_000179" "g.48604685_48604686insATCC" "" "{DOI:Stadler 2012:10.1200/jco.2012.41.7949}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.51078315_51078316insATCC" "" "pathogenic" "ACMG" "0000454661" "0" "99" "18" "48604685" "48604686" "ins" "0" "00645" "SMAD4_000179" "g.48604685_48604686insATCC" "" "{DOI:Stadler 2012:10.1200/jco.2012.41.7949}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.51078315_51078316insATCC" "" "pathogenic" "ACMG" "0000454662" "0" "99" "18" "48604685" "48604686" "ins" "0" "00645" "SMAD4_000179" "g.48604685_48604686insATCC" "" "{DOI:Stadler 2012:10.1200/jco.2012.41.7949}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.51078315_51078316insATCC" "" "pathogenic" "ACMG" "0000454663" "0" "99" "18" "48604685" "48604686" "ins" "0" "00645" "SMAD4_000179" "g.48604685_48604686insATCC" "" "{DOI:Stadler 2012:10.1200/jco.2012.41.7949}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.51078315_51078316insATCC" "" "pathogenic" "ACMG" "0000454664" "0" "55" "18" "48604703" "48604703" "subst" "0" "00645" "SMAD4_000180" "g.48604703T>A" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs377767369" "0" "" "" "g.51078333T>A" "" "VUS" "ACMG" "0000454665" "0" "95" "18" "48604703" "48604703" "subst" "0" "00645" "SMAD4_000180" "g.48604703T>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs377767369" "0" "" "" "g.51078333T>A" "" "pathogenic" "ACMG" "0000454666" "0" "55" "18" "48604707" "48604707" "subst" "0" "00645" "SMAD4_000059" "g.48604707G>T" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs377767371" "0" "" "" "g.51078337G>T" "" "VUS" "ACMG" "0000454667" "0" "95" "18" "48604707" "48604707" "subst" "0" "00645" "SMAD4_000059" "g.48604707G>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs377767371" "0" "" "" "g.51078337G>T" "" "pathogenic" "ACMG" "0000454668" "0" "99" "18" "48604736" "48604736" "subst" "0" "00645" "SMAD4_000124" "g.48604736G>T" "" "{PMID:Menko 2014:25269631}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51078366G>T" "" "pathogenic" "ACMG" "0000454669" "0" "59" "18" "48604742" "48604743" "del" "0" "00645" "SMAD4_000063" "g.48604742_48604743del" "" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "1564delCC" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs377767374" "0" "" "" "g.51078372_51078373del" "" "VUS" "ACMG" "0000454670" "0" "55" "18" "48604751" "48604751" "subst" "0.000560438" "00645" "SMAD4_000086" "g.48604751A>G" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.51078381A>G" "" "VUS" "ACMG" "0000454671" "0" "55" "18" "48604751" "48604751" "subst" "0.000560438" "00645" "SMAD4_000086" "g.48604751A>G" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.51078381A>G" "" "VUS" "ACMG" "0000454672" "0" "99" "18" "48604765" "48604765" "dup" "0" "00645" "SMAD4_000066" "g.48604765dup" "" "{DOI:Jelsig 2015:10.1111/cge.12693}" "" "1587dupA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767376" "0" "" "" "g.51078395dup" "" "pathogenic" "ACMG" "0000454673" "0" "59" "18" "48604766" "48604766" "del" "0" "00645" "SMAD4_000067" "g.48604766del" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "1587delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767377" "0" "" "" "g.51078396del" "" "VUS" "ACMG" "0000454674" "0" "99" "18" "48604766" "48604766" "del" "0" "00645" "SMAD4_000067" "g.48604766del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "1588delC" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs377767377" "0" "" "" "g.51078396del" "" "pathogenic" "ACMG" "0000454675" "0" "99" "18" "48604766" "48604766" "del" "0" "00645" "SMAD4_000067" "g.48604766del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1588delC" "ACMG PM2, PVS1, PM4, PP3" "Germline" "" "rs377767377" "0" "" "" "g.51078396del" "" "pathogenic" "ACMG" "0000454676" "0" "59" "18" "48604774" "48604775" "delins" "0" "00645" "SMAD4_000069" "g.48604774_48604775delinsT" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "1596_1597delinsT" "ACMG PS1, PM2, PP3, PP5" "Germline" "" "rs377767379" "0" "" "" "g.51078404_51078405delinsT" "" "VUS" "ACMG" "0000454677" "0" "59" "18" "48604778" "48604778" "subst" "0" "00645" "SMAD4_000073" "g.48604778C>T" "" "{DOI:Korezenik 2005:10.1056/NEJMcpc059028}" "" "truncating germ-line MADH4 mutation at codon 534" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767383" "0" "" "" "g.51078408C>T" "" "VUS" "ACMG" "0000454678" "0" "55" "18" "48604785" "48604785" "dup" "0" "00645" "SMAD4_000074" "g.48604785dup" "" "BCI200510100169:Moguelet 2004, WOS000180503100017:Teniere 2002" "" "536insT, CTA>CTTA" "ACMG PM2, PM4, PP3" "Germline" "" "rs377767384" "0" "" "" "g.51078415dup" "" "VUS" "ACMG" "0000454679" "0" "55" "18" "48604785" "48604785" "dup" "0" "00645" "SMAD4_000074" "g.48604785dup" "" "BCI200510100169:Moguelet 2004, WOS000180503100017:Teniere 2002" "" "536insT, CTA>CTTA" "ACMG PM2, PM4, PP3" "Germline" "" "rs377767384" "0" "" "" "g.51078415dup" "" "VUS" "ACMG" "0000454680" "0" "99" "18" "48604786" "48604786" "del" "0" "00645" "SMAD4_000181" "g.48604786del" "" "{DOI:Balci 2013: 10.4318/tjg.2013.0542}" "" "1608delA" "ACMG PVS1, PM2, PM4, PP5" "De novo" "" "" "0" "" "" "g.51078416del" "" "pathogenic" "ACMG" "0000454681" "0" "55" "18" "48603187" "48603187" "subst" "0.0000102356" "00645" "SMAD4_000175" "g.48603187G>A" "" "{PMID:Tram 2011:21835029}, {DOI:Tram 2011:10.1185/bcr2926}" "" "IVS12+41G>A" "ACMG PM2" "Germline" "" "" "0" "" "" "g.51076817G>A" "" "VUS" "ACMG" "0000454682" "0" "59" "18" "48603007" "48611412" "del" "0" "00645" "SMAD4_000164" "g.(48593558_48603007)_(48611412 _?)del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1309-?_1659+?del" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454683" "0" "55" "18" "48604593" "48604593" "subst" "0.00031005" "00645" "SMAD4_000177" "g.48604593T>A" "" "{PMID:Tram 2011:21835029}, {DOI:Tram 2011:10.1185/bcr2926}" "" "IVS12-33T>A" "ACMG PM2" "Germline" "" "" "0" "" "" "g.51078223T>A" "" "VUS" "ACMG" "0000454684" "0" "59" "18" "48575670" "48575671" "del" "0" "00645" "SMAD4_000039" "g.48575670_48575671del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "426_427delTC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51049300_51049301del" "" "VUS" "ACMG" "0000454685" "0" "59" "18" "48575670" "48575671" "del" "0" "00645" "SMAD4_000039" "g.48575670_48575671del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "426_427delTC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51049300_51049301del" "" "VUS" "ACMG" "0000454686" "0" "59" "18" "48556583" "48611412" "del" "0" "00645" "SMAD4_000139" "g.(?_48556583)_(48611412_?)del" "" "{DOI:Langeveld 2010:10.1158/1078-0432.ccr-10-0168}" "" "hemizygous deletion" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454687" "0" "59" "18" "48556583" "48611412" "del" "0" "00645" "SMAD4_000139" "g.(?_48556583)_(48611412_?)del" "" "{DOI:Langeveld 2010:10.1158/1078-0432.ccr-10-0168}" "" "hemizygous deletion" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454688" "0" "95" "18" "48556583" "48592683" "del" "0" "00645" "SMAD4_000138" "g.(?_48556583)_(48591977_48593388)del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "del ex1-8" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454689" "0" "55" "18" "48573605" "48573613" "del" "0" "00645" "SMAD4_000141" "g.48573605_48573613del" "" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "189_197delAAATGGAGC" "ACMG PM2, PM4" "Germline" "" "" "0" "" "" "g.51047235_51047243del" "" "VUS" "ACMG" "0000454690" "0" "55" "18" "48573605" "48573613" "del" "0" "00645" "SMAD4_000141" "g.48573605_48573613del" "" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "189_197delAAATGGAGC" "ACMG PM2, PM4" "Germline" "" "" "0" "" "" "g.51047235_51047243del" "" "VUS" "ACMG" "0000454691" "0" "99" "18" "48575069" "48575073" "del" "0" "00645" "SMAD4_000142" "g.48575069_48575073del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "263-267delAAGGA" "ACMG PVS1, PM4, PM2, PP3" "Germline" "" "" "0" "" "" "g.51048699_51048703del" "" "pathogenic" "ACMG" "0000454692" "0" "99" "18" "48575069" "48575073" "del" "0" "00645" "SMAD4_000142" "g.48575069_48575073del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "263-267delAAGGA" "ACMG PVS1, PM4, PM2, PP3" "Germline" "" "" "0" "" "" "g.51048699_51048703del" "" "pathogenic" "ACMG" "0000454693" "0" "99" "18" "48575069" "48575073" "del" "0" "00645" "SMAD4_000142" "g.48575069_48575073del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "263-267delAAGGA" "ACMG PVS1, PM4, PM2, PP3" "Germline" "" "" "0" "" "" "g.51048699_51048703del" "" "pathogenic" "ACMG" "0000454694" "0" "99" "18" "48575069" "48575073" "del" "0" "00645" "SMAD4_000142" "g.48575069_48575073del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "263-267delAAGGA" "ACMG PVS1, PM4, PM2, PP3" "Germline" "" "" "0" "" "" "g.51048699_51048703del" "" "pathogenic" "ACMG" "0000454695" "0" "99" "18" "48575069" "48575073" "del" "0" "00645" "SMAD4_000142" "g.48575069_48575073del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "263-267delAAGGA" "ACMG PVS1, PM4, PM2, PP3" "Germline" "" "" "0" "" "" "g.51048699_51048703del" "" "pathogenic" "ACMG" "0000454696" "0" "99" "18" "48575069" "48575073" "del" "0" "00645" "SMAD4_000142" "g.48575069_48575073del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "263-267delAAGGA" "ACMG PVS1, PM4, PM2, PP3" "Germline" "" "" "0" "" "" "g.51048699_51048703del" "" "pathogenic" "ACMG" "0000454697" "0" "59" "18" "48575181" "48575187" "dup" "0" "00645" "SMAD4_000037" "g.48575181_48575187dup" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "375dup7" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51048811_51048817dup" "" "VUS" "ACMG" "0000454698" "0" "59" "18" "48575231" "48575231" "subst" "0" "00645" "SMAD4_000129" "g.48575231G>A" "" "{DOI:Alberici 2008:10.1186/1755-8417-1-2}" "" "" "ACMG PVS1, PM2, PP3, PP5" "Germline" "" "rs377767386" "0" "" "" "g.51048861G>A" "" "VUS" "ACMG" "0000454699" "0" "15" "18" "48575235" "48575235" "subst" "0.000207651" "00645" "SMAD4_000127" "g.48575235G>A" "" "{DOI:Jelsig 2016:10.1080/00365521.2016.1174880}" "" "" "ACMG PP3, BP6" "Germline" "" "rs200772603" "0" "" "" "g.51048865G>A" "" "benign" "ACMG" "0000454700" "0" "99" "18" "48575670" "48575671" "del" "0" "00645" "SMAD4_000039" "g.48575670_48575671del" "" "{DOI:Pearlman 2016:10.1001/jamaoncol.2016.5194}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51049300_51049301del" "" "pathogenic" "ACMG" "0000454701" "0" "59" "18" "48575670" "48575671" "del" "0" "00645" "SMAD4_000039" "g.48575670_48575671del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "320-431delTC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51049300_51049301del" "" "VUS" "ACMG" "0000454702" "0" "55" "18" "48573289" "48592683" "del" "0" "00645" "SMAD4_000140" "g.(?_48573289)_(48591977_48593388)del" "" "{DOI:Soer 2015:10.1007/s10689-015-9822-z}" "" "deletion exons 1-8" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454703" "0" "59" "18" "48581239" "48581239" "del" "0" "00645" "SMAD4_000143" "g.48581239del" "" "{DOI:Schwetz 2012:10.1097/MEG.0b013e328354f43e}" "" "543delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51054869del" "" "VUS" "ACMG" "0000454704" "0" "59" "18" "48581239" "48581239" "del" "0" "00645" "SMAD4_000143" "g.48581239del" "" "{DOI:Schwetz 2012:10.1097/MEG.0b013e328354f43e}" "" "543delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51054869del" "" "VUS" "ACMG" "0000454705" "0" "59" "18" "48581239" "48581239" "del" "0" "00645" "SMAD4_000143" "g.48581239del" "" "{DOI:Schwetz 2012:10.1097/MEG.0b013e328354f43e}" "" "543delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51054869del" "" "VUS" "ACMG" "0000454706" "0" "59" "18" "48581239" "48581239" "del" "0" "00645" "SMAD4_000143" "g.48581239del" "" "{DOI:Schwetz 2012:10.1097/MEG.0b013e328354f43e}" "" "543delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51054869del" "" "VUS" "ACMG" "0000454707" "0" "59" "18" "48581239" "48581239" "del" "0" "00645" "SMAD4_000143" "g.48581239del" "" "{DOI:Schwetz 2012:10.1097/MEG.0b013e328354f43e}" "" "543delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51054869del" "" "VUS" "ACMG" "0000454708" "0" "59" "18" "48581239" "48581239" "del" "0" "00645" "SMAD4_000143" "g.48581239del" "" "{DOI:Schwetz 2012:10.1097/MEG.0b013e328354f43e}" "" "543delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51054869del" "" "VUS" "ACMG" "0000454709" "0" "59" "18" "48581239" "48581239" "del" "0" "00645" "SMAD4_000143" "g.48581239del" "" "{DOI:Schwetz 2012:10.1097/MEG.0b013e328354f43e}" "" "543delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51054869del" "" "VUS" "ACMG" "0000454710" "0" "59" "18" "48581239" "48581239" "del" "0" "00645" "SMAD4_000143" "g.48581239del" "" "{DOI:Schwetz 2012:10.1097/MEG.0b013e328354f43e}" "" "543delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51054869del" "" "VUS" "ACMG" "0000454711" "0" "59" "18" "48581239" "48581239" "del" "0" "00645" "SMAD4_000143" "g.48581239del" "" "{DOI:Schwetz 2012:10.1097/MEG.0b013e328354f43e}" "" "543delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51054869del" "" "VUS" "ACMG" "0000454712" "0" "55" "18" "48581250" "48581250" "subst" "0" "00645" "SMAD4_000144" "g.48581250C>A" "" "{DOI:Pearlman 2016:10.1001/jamaoncol.2016.5194}" "" "554C>A" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51054880C>A" "" "VUS" "ACMG" "0000454713" "0" "59" "18" "48581304" "48581304" "del" "0" "00645" "SMAD4_000044" "g.48581304del" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "608delC (P203HfsX)" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51054934del" "" "VUS" "ACMG" "0000454714" "0" "99" "18" "48581304" "48581304" "del" "0" "00645" "SMAD4_000044" "g.48581304del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "608delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51054934del" "" "pathogenic" "ACMG" "0000454715" "0" "99" "18" "48581304" "48581304" "del" "0" "00645" "SMAD4_000044" "g.48581304del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "608delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51054934del" "" "pathogenic" "ACMG" "0000454716" "0" "99" "18" "48581304" "48581304" "del" "0" "00645" "SMAD4_000044" "g.48581304del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "608delC" "ACMG PM2, PM4, PP3, PVS1" "Germline" "" "" "0" "" "" "g.51054934del" "" "pathogenic" "ACMG" "0000454717" "0" "99" "18" "48581304" "48581304" "del" "0" "00645" "SMAD4_000044" "g.48581304del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "608delC" "ACMG PM2, PM4, PP3, PVS1" "Germline" "" "" "0" "" "" "g.51054934del" "" "pathogenic" "ACMG" "0000454718" "0" "55" "18" "48584504" "48584504" "subst" "0.0000853242" "00645" "SMAD4_000145" "g.48584504C>T" "" "{DOI:Pearlman 2016:10.1001/jamaoncol.2016.5194}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.51058134C>T" "" "VUS" "ACMG" "0000454719" "0" "95" "18" "48584519" "48584519" "dup" "0" "00645" "SMAD4_000015" "g.48584519dup" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "692dupG" "ACMG PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51058149dup" "" "pathogenic" "ACMG" "0000454720" "0" "99" "18" "48584519" "48584519" "dup" "0" "00645" "SMAD4_000015" "g.48584519dup" "" "{DOI:Jelsig 2015:10.1111/cge.12693}" "" "692insG" "ACMG PVS1, PM2, PM4, PP3" "De novo" "" "" "0" "" "" "g.51058149dup" "" "pathogenic" "ACMG" "0000454721" "0" "59" "18" "48584555" "48584562" "del" "0" "00645" "SMAD4_000146" "g.48584555_48584562del" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "724_731delTCAGGGCC" "ACMG PM2, PS1, PP1, PP3" "Germline" "" "" "0" "" "" "g.51058185_51058192del" "" "VUS" "ACMG" "0000454722" "0" "59" "18" "48584555" "48584562" "del" "0" "00645" "SMAD4_000146" "g.48584555_48584562del" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "724_731delTCAGGGCC" "ACMG PM2, PS1, PP1, PP3" "Germline" "" "" "0" "" "" "g.51058185_51058192del" "" "VUS" "ACMG" "0000454723" "0" "59" "18" "48584572" "48584572" "subst" "0" "00645" "SMAD4_000147" "g.48584572C>T" "" "{DOI:Pantelis 2016:10.1007/s00384-016-2656-9}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51058202C>T" "" "VUS" "ACMG" "0000454724" "0" "59" "18" "48584573" "48584574" "delins" "0" "00645" "SMAD4_000148" "g.48584573_48584574delinsCC" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "746_747AG>CC" "ACMG PM2, PS1, PP5, PP3" "Germline" "" "rs587782209" "0" "" "" "g.51058203_51058204delinsCC" "" "VUS" "ACMG" "0000454725" "0" "99" "18" "48584586" "48584586" "del" "0" "00645" "SMAD4_000149" "g.48584586del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "759delT" "ACMG PVS1, PM4, PM2, PP3" "Germline" "" "" "0" "" "" "g.51058216del" "" "pathogenic" "ACMG" "0000454726" "0" "59" "18" "48584720" "48584720" "del" "0" "00645" "SMAD4_000150" "g.48584720del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "798delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51058350del" "" "VUS" "ACMG" "0000454727" "0" "59" "18" "48584824" "48584824" "dup" "0" "00645" "SMAD4_000152" "g.48584824dup" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "902_903insA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51058454dup" "" "VUS" "ACMG" "0000454728" "0" "59" "18" "48586270" "48586270" "del" "0" "00645" "SMAD4_000153" "g.48586270del" "" "{DOI:Torring 2013:10.1111/cge.12269}" "" "939delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51059900del" "" "VUS" "ACMG" "0000454729" "0" "59" "18" "48584684" "48592683" "del" "0" "00645" "SMAD4_000151" "g.(48584615_48584752)_(48591977_48593388)del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "830-?_1139+?del" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454730" "0" "55" "18" "48591807" "48591807" "subst" "0" "00645" "SMAD4_000048" "g.48591807T>C" "" "{DOI:Langeveld 2010:10.1158/1078-0432.ccr-10-0168}" "" "" "ACMG PM2, PP3" "Germline" "" "rs377767339" "0" "" "" "g.51065437T>C" "" "VUS" "ACMG" "0000454731" "0" "55" "18" "48591807" "48591807" "subst" "0" "00645" "SMAD4_000048" "g.48591807T>C" "" "{DOI:Langeveld 2010:10.1158/1078-0432.ccr-10-0168}" "" "" "ACMG PM2, PP3" "Germline" "" "rs377767339" "0" "" "" "g.51065437T>C" "" "VUS" "ACMG" "0000454732" "0" "59" "18" "48591808" "48591808" "del" "0" "00645" "SMAD4_000016" "g.48591808del" "" "{DOI:Langeveld 2010:10.1158/1078-0432.ccr-10-0168}" "" "971delG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767340" "0" "" "" "g.51065438del" "" "VUS" "ACMG" "0000454733" "0" "55" "18" "48591826" "48591826" "subst" "0" "00645" "SMAD4_000005" "g.48591826A>G" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs281875324" "0" "" "" "g.51065456A>G" "" "VUS" "ACMG" "0000454734" "0" "95" "18" "48591826" "48591826" "subst" "0" "00645" "SMAD4_000005" "g.48591826A>G" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3" "Germline" "" "rs281875324" "0" "" "" "g.51065456A>G" "" "pathogenic" "ACMG" "0000454735" "0" "55" "18" "48591826" "48591826" "subst" "0" "00645" "SMAD4_000005" "g.48591826A>G" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2007:10.1136/gut.2007.142927}" "" "" "ACMG PM2, PP3" "Germline" "" "rs281875324" "0" "" "" "g.51065456A>G" "" "VUS" "ACMG" "0000454736" "0" "95" "18" "48591826" "48591826" "subst" "0" "00645" "SMAD4_000005" "g.48591826A>G" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PP3" "Germline" "" "rs281875324" "0" "" "" "g.51065456A>G" "" "pathogenic" "ACMG" "0000454737" "0" "55" "18" "48591826" "48591826" "subst" "0" "00645" "SMAD4_000005" "g.48591826A>G" "" "{DOI:Langeveld 2010:10.1158/1078-0432.ccr-10-0168}" "" "" "ACMG PM2, PP3" "Germline" "" "rs281875324" "0" "" "" "g.51065456A>G" "" "VUS" "ACMG" "0000454738" "0" "59" "18" "48591874" "48591874" "del" "0" "00645" "SMAD4_000019" "g.48591874del" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "1037delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51065504del" "" "VUS" "ACMG" "0000454739" "0" "99" "18" "48591874" "48591874" "del" "0" "00645" "SMAD4_000019" "g.48591874del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "1037delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51065504del" "" "pathogenic" "ACMG" "0000454740" "0" "99" "18" "48591874" "48591874" "del" "0" "00645" "SMAD4_000019" "g.48591874del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1037delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51065504del" "" "pathogenic" "ACMG" "0000454741" "0" "55" "18" "48591886" "48591886" "subst" "0" "00645" "SMAD4_000155" "g.48591886T>A" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51065516T>A" "" "VUS" "ACMG" "0000454742" "0" "55" "18" "48591891" "48591891" "subst" "0" "00645" "SMAD4_000006" "g.48591891G>A" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs121912581" "0" "" "" "g.51065521G>A" "" "VUS" "ACMG" "0000454743" "0" "95" "18" "48591891" "48591891" "subst" "0" "00645" "SMAD4_000006" "g.48591891G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs121912581" "0" "" "" "g.51065521G>A" "" "pathogenic" "ACMG" "0000454744" "0" "95" "18" "48591891" "48591891" "subst" "0" "00645" "SMAD4_000006" "g.48591891G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs121912581" "0" "" "" "g.51065521G>A" "" "pathogenic" "ACMG" "0000454745" "0" "95" "18" "48591891" "48591891" "subst" "0" "00645" "SMAD4_000006" "g.48591891G>A" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PP3" "Germline" "" "rs121912581" "0" "" "" "g.51065521G>A" "" "pathogenic" "ACMG" "0000454746" "0" "99" "18" "48591891" "48591891" "subst" "0" "00645" "SMAD4_000006" "g.48591891G>A" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PP3" "Germline" "" "rs121912581" "0" "" "" "g.51065521G>A" "" "pathogenic" "ACMG" "0000454747" "0" "99" "18" "48591918" "48591918" "del" "0" "00645" "SMAD4_000156" "g.48591918del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "1081delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51065548del" "" "pathogenic" "ACMG" "0000454748" "0" "55" "18" "48591918" "48591918" "subst" "0" "00645" "SMAD4_000023" "g.48591918C>A" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs80338963" "0" "" "" "g.51065548C>A" "" "VUS" "ACMG" "0000454749" "0" "99" "18" "48591918" "48591918" "subst" "0" "00645" "SMAD4_000023" "g.48591918C>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PM5, PP3, PP5" "Germline" "" "rs80338963" "0" "" "" "g.51065548C>A" "" "pathogenic" "ACMG" "0000454750" "0" "55" "18" "48591918" "48591918" "subst" "0" "00645" "SMAD4_000022" "g.48591918C>G" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs80338963" "0" "" "" "g.51065548C>G" "" "VUS" "ACMG" "0000454751" "0" "99" "18" "48591918" "48591918" "subst" "0" "00645" "SMAD4_000022" "g.48591918C>G" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PM5, PP3, PP5" "Germline" "" "rs80338963" "0" "" "" "g.51065548C>G" "" "pathogenic" "ACMG" "0000454752" "0" "95" "18" "48591918" "48591918" "subst" "0" "00645" "SMAD4_000022" "g.48591918C>G" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "rs80338963" "0" "" "" "g.51065548C>G" "" "pathogenic" "ACMG" "0000454753" "0" "99" "18" "48591918" "48591918" "subst" "0" "00645" "SMAD4_000007" "g.48591918C>T" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PM2, PP3, PM5, PS2" "De novo" "" "rs80338963" "0" "" "" "g.51065548C>T" "" "pathogenic" "ACMG" "0000454754" "0" "95" "18" "48591918" "48591918" "subst" "0" "00645" "SMAD4_000007" "g.48591918C>T" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PM2, PP3, PM5" "Germline" "" "rs80338963" "0" "" "" "g.51065548C>T" "" "pathogenic" "ACMG" "0000454755" "0" "59" "18" "48591918" "48591918" "subst" "0" "00645" "SMAD4_000007" "g.48591918C>T" "" "{PMID:Woodford-Richens 2000:10764709}, {DOI:Woodford-Richens et a 2000:10.1136/gut.46.5.656}" "" "" "ACMG PM2, PM4, PP3, PP5" "Germline" "" "rs80338963" "0" "" "" "g.51065548C>T" "" "VUS" "ACMG" "0000454756" "0" "59" "18" "48591919" "48591919" "subst" "0" "00645" "SMAD4_000025" "g.48591919G>T" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "" "ACMG PS1, PM2, PP3, PM6" "Germline" "" "rs377767347" "0" "" "" "g.51065549G>T" "" "VUS" "ACMG" "0000454757" "0" "59" "18" "48591919" "48591919" "subst" "0" "00645" "SMAD4_000024" "g.48591919G>A" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "" "ACMG PS1, PM2, PP3, PM6" "Germline" "" "rs377767347" "0" "" "" "g.51065549G>A" "" "VUS" "ACMG" "0000454758" "0" "95" "18" "48591919" "48591919" "subst" "0" "00645" "SMAD4_000024" "g.48591919G>A" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PM2, PP3, PM5" "Germline" "" "rs377767347" "0" "" "" "g.51065549G>A" "" "pathogenic" "ACMG" "0000454759" "0" "55" "18" "48591919" "48591919" "subst" "0" "00645" "SMAD4_000025" "g.48591919G>T" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "rs377767347" "0" "" "" "g.51065549G>T" "" "VUS" "ACMG" "0000454760" "0" "55" "18" "48591919" "48591919" "subst" "0" "00645" "SMAD4_000025" "g.48591919G>T" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "" "0" "" "" "g.51065549G>T" "" "VUS" "ACMG" "0000454761" "0" "55" "18" "48591924" "48591924" "subst" "0" "00645" "SMAD4_000026" "g.48591924T>C" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PM2, PP3" "Germline" "" "rs377767348" "0" "" "" "g.51065554T>C" "" "VUS" "ACMG" "0000454762" "0" "95" "18" "48591928" "48591928" "subst" "0" "00645" "SMAD4_000028" "g.48591928T>G" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "rs377767350" "0" "" "" "g.51065558T>G" "" "pathogenic" "ACMG" "0000454763" "0" "99" "18" "48591933" "48591933" "subst" "0" "00645" "SMAD4_000157" "g.48591933C>T" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51065563C>T" "" "pathogenic" "ACMG" "0000454764" "0" "55" "18" "48591976" "48591976" "subst" "0" "00645" "SMAD4_000132" "g.48591976G>A" "" "{DOI:Gonzales 2015:10.1093/ajcp/138.suppl1.099}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs377767353" "0" "" "" "g.51065606G>A" "" "VUS" "ACMG" "0000454765" "0" "55" "18" "48591976" "48591976" "subst" "0" "00645" "SMAD4_000132" "g.48591976G>A" "" "{DOI:Gonzales 2015:10.1093/ajcp/138.suppl1.099}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "rs377767353" "0" "" "" "g.51065606G>A" "" "VUS" "ACMG" "0000454766" "0" "99" "18" "48593388" "48593388" "subst" "0" "00645" "SMAD4_000120" "g.48593388G>A" "" "{DOI:Kager 2014:10.1053/j.gastro.2014.06.003}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51067018G>A" "" "pathogenic" "ACMG" "0000454767" "0" "55" "18" "48593395" "48593395" "subst" "0" "00645" "SMAD4_000158" "g.48593395C>A" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51067025C>A" "" "VUS" "ACMG" "0000454768" "0" "95" "18" "48593405" "48593405" "subst" "0" "00645" "SMAD4_000159" "g.48593405G>A" "" "{DOI:Torring 2013:10.1111/cge.12269}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "" "0" "" "" "g.51067035G>A" "" "pathogenic" "ACMG" "0000454769" "0" "95" "18" "48593405" "48593405" "subst" "0" "00645" "SMAD4_000159" "g.48593405G>A" "" "{DOI:Torring 2013:10.1111/cge.12269}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "" "0" "" "" "g.51067035G>A" "" "pathogenic" "ACMG" "0000454770" "0" "95" "18" "48593405" "48593405" "subst" "0" "00645" "SMAD4_000159" "g.48593405G>A" "" "{DOI:Torring 2013:10.1111/cge.12269}" "" "" "ACMG PM2, PP3, PP5" "Germline" "" "" "0" "" "" "g.51067035G>A" "" "pathogenic" "ACMG" "0000454771" "0" "99" "18" "48593406" "48593406" "subst" "0" "00645" "SMAD4_000008" "g.48593406G>A" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "" "ACMG PS1, PM2, PP3" "Germline" "" "rs121912580" "0" "" "" "g.51067036G>A" "" "pathogenic" "ACMG" "0000454772" "0" "59" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "VUS" "ACMG" "0000454773" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454774" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454775" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454776" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454777" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454778" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PM4, PP3, PVS1" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454779" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PM4, PP3, PVS1" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454780" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PM4, PP3, PVS1" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454781" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PM4, PP3, PVS1" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454782" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PM4, PP3, PVS1" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454783" "0" "99" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PM4, PP3, PVS1" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "pathogenic" "ACMG" "0000454784" "0" "59" "18" "48593411" "48593411" "subst" "0" "00645" "SMAD4_000032" "g.48593411C>T" "" "{DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs80338964" "0" "" "" "g.51067041C>T" "" "VUS" "ACMG" "0000454785" "0" "95" "18" "48591895" "48591895" "subst" "0" "00645" "SMAD4_000021" "g.48591895A>C" "" "{PMID:Roth 1999:10441006}, {DOI:Roth 1999:10.1002/(SICI)1098-2264(199909)26:1<54::AID-GCC8>3.0.CO;2-D}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.51065525A>C" "" "pathogenic" "ACMG" "0000454786" "0" "59" "18" "48593442" "48593442" "subst" "0" "00645" "SMAD4_000034" "g.48593442G>A" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767357" "0" "" "" "g.51067072G>A" "" "VUS" "ACMG" "0000454787" "0" "59" "18" "48593442" "48593442" "subst" "0" "00645" "SMAD4_000034" "g.48593442G>A" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767357" "0" "" "" "g.51067072G>A" "" "VUS" "ACMG" "0000454788" "0" "59" "18" "48593442" "48593442" "subst" "0" "00645" "SMAD4_000034" "g.48593442G>A" "" "{DOI:Langeveld 2010:10.1158/1078-0432.ccr-10-0168}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs377767357" "0" "" "" "g.51067072G>A" "" "VUS" "ACMG" "0000454789" "0" "59" "18" "48593477" "48593478" "del" "0" "00645" "SMAD4_000035" "g.48593477_48593478del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1228-1229delCA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067107_51067108del" "" "VUS" "ACMG" "0000454790" "0" "59" "18" "48593477" "48593478" "del" "0" "00645" "SMAD4_000035" "g.48593477_48593478del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1228-1229delCA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067107_51067108del" "" "VUS" "ACMG" "0000454791" "0" "59" "18" "48593477" "48593478" "del" "0" "00645" "SMAD4_000035" "g.48593477_48593478del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1228-1229delCA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067107_51067108del" "" "VUS" "ACMG" "0000454792" "0" "59" "18" "48593477" "48593478" "del" "0" "00645" "SMAD4_000035" "g.48593477_48593478del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1228-1229delCA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067107_51067108del" "" "VUS" "ACMG" "0000454793" "0" "59" "18" "48593477" "48593478" "del" "0" "00645" "SMAD4_000035" "g.48593477_48593478del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1228-1229delCA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067107_51067108del" "" "VUS" "ACMG" "0000454794" "0" "59" "18" "48593477" "48593478" "del" "0" "00645" "SMAD4_000035" "g.48593477_48593478del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1228-1229delCA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067107_51067108del" "" "VUS" "ACMG" "0000454795" "0" "59" "18" "48593477" "48593478" "del" "0" "00645" "SMAD4_000035" "g.48593477_48593478del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1228-1229delCA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067107_51067108del" "" "VUS" "ACMG" "0000454796" "0" "55" "18" "48593480" "48593481" "del" "0" "00645" "SMAD4_000160" "g.48593480_48593481del" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "1229_1230delAG" "ACMG PM2, PP5, PP3" "Germline" "" "rs730881952" "0" "" "" "g.51067110_51067111del" "" "VUS" "ACMG" "0000454797" "0" "55" "18" "48593480" "48593481" "del" "0" "00645" "SMAD4_000160" "g.48593480_48593481del" "" "{DOI:Schwenter 2012:10.1007/s00535-012-0545-8}" "" "1229_1230delAG" "ACMG PM2, PP5, PP3" "Germline" "" "rs730881952" "0" "" "" "g.51067110_51067111del" "" "VUS" "ACMG" "0000454798" "0" "59" "18" "48593480" "48593481" "del" "0" "00645" "SMAD4_000160" "g.48593480_48593481del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1231_1232delAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067110_51067111del" "" "VUS" "ACMG" "0000454799" "0" "59" "18" "48593480" "48593481" "del" "0" "00645" "SMAD4_000160" "g.48593480_48593481del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1231_1232delAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067110_51067111del" "" "VUS" "ACMG" "0000454800" "0" "59" "18" "48593485" "48593485" "subst" "0" "00645" "SMAD4_000036" "g.48593485C>G" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs121912577" "0" "" "" "g.51067115C>G" "" "VUS" "ACMG" "0000454801" "0" "59" "18" "48593485" "48593485" "subst" "0" "00645" "SMAD4_000036" "g.48593485C>G" "" "{PMID:Lamireau 2005:15990641}, {DOI:Lamireau 2005:10.1097/01.mpg.0000151762.51287.7d}" "" "" "ACMG PS1, PM2, PM4, PP3" "Germline" "" "rs121912577" "0" "" "" "g.51067115C>G" "" "VUS" "ACMG" "0000454802" "0" "59" "18" "48593485" "48593485" "subst" "0" "00645" "SMAD4_000036" "g.48593485C>G" "" "{PMID:Lamireau 2005:15990641}, {DOI:Lamireau 2005:10.1097/01.mpg.0000151762.51287.7d}" "" "" "ACMG PS1, PM2, PM4, PP3" "Germline" "" "rs121912577" "0" "" "" "g.51067115C>G" "" "VUS" "ACMG" "0000454803" "0" "59" "18" "48593485" "48593485" "subst" "0" "00645" "SMAD4_000036" "g.48593485C>G" "" "{PMID:Lamireau 2005:15990641}, {DOI:Lamireau 2005:10.1097/01.mpg.0000151762.51287.7d}" "" "" "ACMG PS1, PM2, PM4, PP3" "Germline" "" "rs121912577" "0" "" "" "g.51067115C>G" "" "VUS" "ACMG" "0000454804" "0" "59" "18" "48593488" "48593488" "subst" "0" "00645" "SMAD4_000161" "g.48593488C>G" "" "{PMID:Jee Myung Jin 2013:24312718}" "" "" "ACMG PM2, PM4, PP3, PM6" "Germline" "" "" "0" "" "" "g.51067118C>G" "" "VUS" "ACMG" "0000454805" "0" "55" "18" "48593488" "48593488" "subst" "0" "00645" "SMAD4_000161" "g.48593488C>G" "" "{PMID:Jee Myung Jin 2013:24312718}" "" "" "ACMG PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067118C>G" "" "VUS" "ACMG" "0000454806" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Gallione 2010:20101697}, {DOI:Gallione 2010:10.1002/ajmg.a.33206}" "" "1242_45delAGAC" "ACMG PS1, PM2, PM4, PP3" "Germline" "" "rs80338965" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454807" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "1244_7delACAG" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454808" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "1244_7delACAG" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454809" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454810" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454811" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454812" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454813" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454814" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454815" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454816" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454817" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454818" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454819" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454820" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454821" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454822" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454823" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454824" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454825" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454826" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454827" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454828" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454829" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454830" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454831" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454832" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454833" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454834" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454835" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1244delACAG" "ACMG PVS1, PS4, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454836" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Pintiliciuc 2008:18355998}, {DOI:Pintiliciuc 2008:10.1016/j.gcb.2007.11.008}" "" "1245_1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454837" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "1245delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454838" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Carr 2012:10.1016/j.jss.2011.11.558}" "" "1244_47delACAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454839" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Howe 1999:10455879}, {DOI:Howe 1999:10.1016/s0039-6060(99)70150-9}" "" "1244_45delACAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454840" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Howe 1999:10455879}, {DOI:Howe 1999:10.1016/s0039-6060(99)70150-9}" "" "1244_45delACAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454841" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Howe 1999:10455879}, {DOI:Howe 1999:10.1016/s0039-6060(99)70150-9}" "" "1244_45delACAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454842" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Howe 1999:10455879}, {DOI:Howe 1999:10.1016/s0039-6060(99)70150-9}" "" "1244_45delACAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454843" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Howe 1999:10455879}, {DOI:Howe 1999:10.1016/s0039-6060(99)70150-9}" "" "1244_45delACAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454844" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1245_1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454845" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1245_1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454846" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1245_1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454847" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1245_1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454848" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1245_1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454849" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1245-1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454850" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1245-1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454851" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1245-1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454852" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1245-1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454853" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1245-1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454854" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1245-1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454855" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1245-1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454856" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:O\'Malley 2011:10.1097/DCR.0b013e31825aad32}" "" "1245-1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454857" "0" "59" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Sumitomo 2013:10.11405/nisshoshi.110.64}" "" "1245_1248delCAGA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "VUS" "ACMG" "0000454858" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "1242_1245delACAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454859" "0" "99" "18" "48593494" "48593497" "del" "0" "00645" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "1242_1245delACAG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic" "ACMG" "0000454860" "0" "59" "18" "48593496" "48593499" "del" "0" "00645" "SMAD4_000162" "g.48593496_48593499del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1247_1250del4" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.51067126_51067129del" "" "VUS" "ACMG" "0000454861" "0" "99" "18" "48593513" "48593514" "delins" "0" "00645" "SMAD4_000163" "g.48593513_48593514delinsA" "" "{DOI:Mongin 2012:10.1111/j.1399-0004.2011.01676.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.51067143_51067144delinsA" "" "pathogenic" "ACMG" "0000454862" "0" "99" "18" "48593558" "48593558" "subst" "0" "00645" "SMAD4_000130" "g.48593558G>A" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "IVS9+1G>A" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51067188G>A" "" "pathogenic" "ACMG" "0000454863" "0" "99" "18" "48593558" "48593558" "subst" "0" "00645" "SMAD4_000130" "g.48593558G>A" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "IVS9+1G>A" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51067188G>A" "" "pathogenic" "ACMG" "0000454864" "0" "99" "18" "48593558" "48593558" "subst" "0" "00645" "SMAD4_000130" "g.48593558G>A" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "IVS9+1G>A" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51067188G>A" "" "pathogenic" "ACMG" "0000454865" "0" "99" "18" "48593558" "48593558" "subst" "0" "00645" "SMAD4_000130" "g.48593558G>A" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "IVS9+1G>A" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51067188G>A" "" "pathogenic" "ACMG" "0000454866" "0" "99" "18" "48593558" "48593558" "subst" "0" "00645" "SMAD4_000130" "g.48593558G>A" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "IVS9+1G>A" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.51067188G>A" "" "pathogenic" "ACMG" "0000454867" "0" "99" "18" "48556583" "48611412" "del" "0" "00645" "SMAD4_000139" "g.(?_48556583)_(48611412_?)del" "" "{DOI:Wain 2014:10.1038/gim.2014.5}" "" "del ex1-11" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454868" "0" "59" "18" "48555739" "48566260" "del" "0" "00645" "SMAD4_000136" "g.(?_48555739)_(48559231_48573289)del" "" "{DOI:Calva 2011:10.1093/nar/gkr091}" "" "heterozygous deletion of a probe upstream of NC exon 4 and all probes located within NC exon 4" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454869" "0" "59" "18" "48556583" "48592683" "del" "0" "00645" "SMAD4_000138" "g.(?_48556583)_(48591977_48593388)del" "" "{DOI:Calva 2011:10.1093/nar/gkr091}" "" "heterozygous deletion of a probe upstream of NC exon 4 and all probes located within NC exon 4, loss of all probes from coding exons 1–8" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454870" "0" "95" "18" "48556583" "48565142" "del" "0" "00645" "SMAD4_000137" "g.(?_48556583)_(48556994_48573289)del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "del promotor, 2 non-coding exons" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454871" "0" "55" "18" "" "" "subst" "" "00645" "SMAD4_000000" "g.?" "" "{PMID:Tram 2011:21835029}, {DOI:Tram 2011:10.1185/bcr2926}" "" "IVS10+109A>G" "ACMG PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454872" "0" "55" "18" "" "" "subst" "" "00645" "SMAD4_000000" "g.?" "" "{PMID:Tram 2011:21835029}, {DOI:Tram 2011:10.1185/bcr2926}" "" "IVS11+118A>G" "ACMG PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454873" "0" "55" "18" "48603279" "48603279" "del" "0" "00645" "SMAD4_000176" "g.48603279del" "" "{PMID:Tram 2011:21835029}, {DOI:Tram 2011:10.1185/bcr2926}" "" "IVS12+132delA" "ACMG PM2" "Germline" "" "" "0" "" "" "g.51076909del" "" "VUS" "ACMG" "0000454888" "11" "90" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Friedl 1999:10398437}, {PMID:Friedl 2002:12136244}" "" "1372-1375delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000454889" "0" "90" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Friedl 1999:10398437}, {PMID:Friedl 2002:12136244}" "" "1372-1375delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000454890" "0" "90" "18" "48593406" "48593406" "subst" "0" "00006" "SMAD4_000008" "g.48593406G>A" "" "{PMID:Friedl 2002:12136244}, {PMID:Burger 2002:12116240}" "" "" "" "De novo" "" "" "0" "" "" "g.51067036G>A" "" "pathogenic (dominant)" "" "0000454904" "0" "90" "18" "" "" "" "" "00006" "SMAD4_000133" "g.(?_48540028)_(48611412 _?)del" "" "{PMID:Aretz 2007:17873119}" "" "‐17093‐?_1659+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000454905" "0" "90" "18" "" "" "" "" "00006" "SMAD4_000133" "g.(?_48540028)_(48611412 _?)del" "" "{PMID:Aretz 2007:17873119}" "" "‐17093‐?_1659+?del" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000454906" "0" "90" "18" "" "" "" "" "00006" "SMAD4_000133" "g.(?_48540028)_(48611412 _?)del" "" "{PMID:Aretz 2007:17873119}" "" "‐17093‐?_1659+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000454907" "0" "90" "18" "" "" "" "" "00006" "SMAD4_000133" "g.(?_48540028)_(48611412 _?)del" "" "{PMID:Aretz 2007:17873119}" "" "‐17093‐?_1659+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000454908" "0" "90" "18" "48591918" "48591918" "subst" "0" "00006" "SMAD4_000007" "g.48591918C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.51065548C>T" "" "pathogenic (dominant)" "" "0000454909" "0" "90" "18" "48591919" "48591919" "subst" "0" "00006" "SMAD4_000024" "g.48591919G>A" "" "{PMID:Aretz 2007:17873119}" "" "" "" "De novo" "" "" "0" "" "" "g.51065549G>A" "" "pathogenic (dominant)" "" "0000454910" "0" "90" "18" "48593406" "48593406" "subst" "0" "00006" "SMAD4_000008" "g.48593406G>A" "" "{PMID:Aretz 2007:17873119}" "" "" "" "De novo" "" "" "0" "" "" "g.51067036G>A" "" "pathogenic (dominant)" "" "0000454911" "0" "90" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Aretz 2007:17873119}" "" "1245_1248delCAGA" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000454912" "0" "90" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Aretz 2007:17873119}" "" "1245_1248delCAGA" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000454913" "0" "90" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Aretz 2007:17873119}" "" "1245_1248delCAGA" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000454914" "0" "90" "18" "48593494" "48593497" "del" "0" "00006" "SMAD4_000012" "g.48593494_48593497del" "" "{PMID:Aretz 2007:17873119}" "" "1245_1248delCAGA" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000454915" "0" "90" "18" "48603041" "48603041" "subst" "0" "00006" "SMAD4_000052" "g.48603041C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.51076671C>T" "" "pathogenic (dominant)" "" "0000454916" "0" "90" "18" "48604722" "48604722" "del" "0" "00006" "SMAD4_000060" "g.48604722del" "" "{PMID:Aretz 2007:17873119}" "" "1544delG" "" "Germline" "" "" "0" "" "" "g.51078352del" "" "pathogenic (dominant)" "" "0000454917" "0" "90" "18" "48604725" "48604728" "dup" "0" "00006" "SMAD4_000061" "g.48604725_48604728dup" "" "{PMID:Aretz 2007:17873119}" "" "1547_1550dupAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000454918" "0" "90" "18" "48575209" "48575209" "subst" "0" "00006" "SMAD4_000038" "g.48575209C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.51048839C>T" "" "pathogenic (dominant)" "" "0000454919" "0" "90" "18" "" "" "" "" "00006" "SMAD4_000134" "g.(48581364_48584494)_(48611412 _?)del" "" "{PMID:Aretz 2007:17873119}" "" "668‐?_1659+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000454920" "0" "90" "18" "" "" "" "" "00006" "SMAD4_000135" "g.(48584615_48584709)_(48611412 _?)del" "" "{PMID:Aretz 2007:17873119}" "" "788‐?_1659+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000454921" "0" "90" "18" "48584753" "48584754" "del" "0" "00006" "SMAD4_000046" "g.48584753_48584754del" "" "{PMID:Aretz 2007:17873119}" "" "831_832delAC" "" "Germline" "" "" "0" "" "" "g.51058383_51058384del" "" "pathogenic (dominant)" "" "0000565042" "0" "30" "18" "48573288" "48573288" "subst" "0" "01804" "SMAD4_000091" "g.48573288A>T" "" "" "" "SMAD4(NM_005359.5):c.-127-2A>T (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51046918A>T" "" "likely benign" "" "0000565043" "0" "30" "18" "48573288" "48573290" "del" "0.0000962505" "01804" "SMAD4_000183" "g.48573288_48573290del" "" "" "" "SMAD4(NM_005359.5):c.-127-2_-127del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51046918_51046920del" "" "likely benign" "" "0000565044" "0" "30" "18" "48573289" "48573289" "subst" "0" "01804" "SMAD4_000184" "g.48573289G>T" "" "" "" "SMAD4(NM_005359.5):c.-127-1G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51046919G>T" "" "likely benign" "" "0000565045" "0" "30" "18" "48573437" "48573437" "subst" "0.0000609558" "02327" "SMAD4_000092" "g.48573437G>A" "" "" "" "SMAD4(NM_005359.5):c.21G>A (p.T7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51047067G>A" "" "likely benign" "" "0000565046" "0" "30" "18" "48573566" "48573566" "subst" "0.00000406345" "02330" "SMAD4_000185" "g.48573566A>G" "" "" "" "SMAD4(NM_005359.5):c.150A>G (p.K50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51047196A>G" "" "likely benign" "" "0000565047" "0" "30" "18" "48573644" "48573644" "subst" "0.000036616" "02326" "SMAD4_000093" "g.48573644A>G" "" "" "" "SMAD4(NM_005359.5):c.228A>G (p.R76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51047274A>G" "" "likely benign" "" "0000565048" "0" "10" "18" "48573689" "48573689" "subst" "0.00760316" "02327" "SMAD4_000010" "g.48573689A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51047319A>G" "" "benign" "" "0000565049" "0" "30" "18" "48575160" "48575160" "subst" "0.00277006" "02327" "SMAD4_000096" "g.48575160G>A" "" "" "" "SMAD4(NM_005359.5):c.354G>A (p.A118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51048790G>A" "" "likely benign" "" "0000565050" "0" "50" "18" "48575206" "48575206" "subst" "0" "02330" "SMAD4_000186" "g.48575206G>A" "" "" "" "SMAD4(NM_005359.5):c.400G>A (p.E134K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51048836G>A" "" "VUS" "" "0000565051" "0" "30" "18" "48575235" "48575235" "subst" "0.000207651" "01943" "SMAD4_000127" "g.48575235G>A" "" "" "" "SMAD4(NM_005359.5):c.424+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51048865G>A" "" "likely benign" "" "0000565052" "0" "30" "18" "48575235" "48575235" "subst" "0.000207651" "02327" "SMAD4_000127" "g.48575235G>A" "" "" "" "SMAD4(NM_005359.5):c.424+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51048865G>A" "" "likely benign" "" "0000565053" "0" "10" "18" "48575748" "48575748" "subst" "0" "02327" "SMAD4_000187" "g.48575748T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51049378T>G" "" "benign" "" "0000565054" "0" "10" "18" "48577782" "48577782" "subst" "0" "02325" "SMAD4_000188" "g.48577782G>C" "" "" "" "SMAD4(NM_005359.5):c.454+2088G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51051412G>C" "" "benign" "" "0000565055" "0" "30" "18" "48581143" "48581143" "subst" "0" "01804" "SMAD4_000189" "g.48581143C>T" "" "" "" "SMAD4(NM_005359.5):c.455-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51054773C>T" "" "likely benign" "" "0000565056" "0" "10" "18" "48581145" "48581145" "subst" "0.000689441" "02330" "SMAD4_000190" "g.48581145A>G" "" "" "" "SMAD4(NM_005359.5):c.455-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51054775A>G" "" "benign" "" "0000565057" "0" "30" "18" "48581261" "48581261" "subst" "0.000300503" "02330" "SMAD4_000083" "g.48581261C>T" "" "" "" "SMAD4(NM_005359.5):c.565C>T (p.R189C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51054891C>T" "" "likely benign" "" "0000565058" "0" "30" "18" "48581375" "48581375" "subst" "0" "02330" "SMAD4_000191" "g.48581375A>T" "" "" "" "SMAD4(NM_005359.5):c.667+12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51055005A>T" "" "likely benign" "" "0000565059" "0" "30" "18" "48584504" "48584504" "subst" "0.0000853242" "02327" "SMAD4_000145" "g.48584504C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51058134C>T" "" "likely benign" "" "0000565060" "0" "30" "18" "48586161" "48586161" "subst" "0" "02327" "SMAD4_000192" "g.48586161T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51059791T>C" "" "likely benign" "" "0000565061" "0" "30" "18" "48591883" "48591883" "subst" "0.0000243685" "02329" "SMAD4_000107" "g.48591883C>T" "" "" "" "SMAD4(NM_005359.5):c.1046C>T (p.T349I, p.(Thr349Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51065513C>T" "" "likely benign" "" "0000565062" "0" "10" "18" "48591923" "48591923" "subst" "0.00185608" "02329" "SMAD4_000109" "g.48591923T>C" "" "" "" "SMAD4(NM_005359.5):c.1086T>C (p.F362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51065553T>C" "" "benign" "" "0000565063" "0" "30" "18" "48593467" "48593467" "subst" "0.0000324873" "02329" "SMAD4_000193" "g.48593467G>A" "" "" "" "SMAD4(NM_005359.5):c.1218G>A (p.A406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51067097G>A" "" "likely benign" "" "0000565064" "0" "90" "18" "48593480" "48593481" "del" "0" "01943" "SMAD4_000160" "g.48593480_48593481del" "" "" "" "SMAD4(NM_005359.5):c.1231_1232delAG (p.S411Lfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51067110_51067111del" "" "pathogenic" "" "0000565065" "0" "10" "18" "48593617" "48593617" "subst" "0" "02327" "SMAD4_000194" "g.48593617T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51067247T>C" "" "benign" "" "0000565066" "0" "30" "18" "48603010" "48603010" "subst" "0" "02329" "SMAD4_000195" "g.48603010C>T" "" "" "" "SMAD4(NM_005359.5):c.1311C>T (p.V437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51076640C>T" "" "likely benign" "" "0000565067" "0" "30" "18" "48603091" "48603091" "subst" "0.000280438" "01943" "SMAD4_000111" "g.48603091C>T" "" "" "" "SMAD4(NM_005359.5):c.1392C>T (p.A464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51076721C>T" "" "likely benign" "" "0000565068" "0" "90" "18" "48604676" "48604676" "subst" "0.00000406121" "02329" "SMAD4_000003" "g.48604676A>G" "" "" "" "SMAD4(NM_005359.5):c.1498A>G (p.I500V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51078306A>G" "" "pathogenic" "" "0000565069" "0" "30" "18" "48604810" "48604810" "subst" "0.0000284516" "02329" "SMAD4_000196" "g.48604810G>A" "" "" "" "SMAD4(NM_005359.5):c.1632G>A (p.P544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51078440G>A" "" "likely benign" "" "0000565070" "0" "30" "18" "48604825" "48604825" "subst" "0.0000284872" "02329" "SMAD4_000197" "g.48604825A>G" "" "" "" "SMAD4(NM_005359.5):c.1647A>G (p.Q549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51078455A>G" "" "likely benign" "" "0000565071" "0" "30" "18" "48604849" "48604849" "subst" "0.000110457" "02330" "SMAD4_000198" "g.48604849G>A" "" "" "" "SMAD4(NM_005359.5):c.*12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51078479G>A" "" "likely benign" "" "0000565072" "0" "30" "18" "48604871" "48604871" "subst" "0" "02327" "SMAD4_000199" "g.48604871G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51078501G>A" "" "likely benign" "" "0000593696" "0" "70" "18" "48573569" "48573569" "dup" "0" "01164" "SMAD4_000200" "g.48573569dup" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "rs786203560" "0" "" "" "g.51047199dup" "" "likely pathogenic" "ACMG" "0000595895" "0" "90" "18" "48556763" "48611412" "del" "0" "01917" "SMAD4_000201" "g.(?_48556763)_(48611412_?)del" "" "" "" "del. SMAD4 gene+promotor" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595896" "0" "90" "18" "48578423" "48611412" "del" "0" "01917" "SMAD4_000207" "g.(48575695_48581150)_(48611412_?)del" "" "" "" "del exon 5-12" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595897" "0" "90" "18" "48573416" "48592683" "del" "0" "01917" "SMAD4_000203" "g.(?_48573416)_(48591977_48593388)del" "" "" "" "del exon 1-8" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595898" "0" "90" "18" "48573416" "48592683" "del" "0" "01917" "SMAD4_000203" "g.(?_48573416)_(48591977_48593388)del" "" "" "" "del exon 1-8" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595899" "0" "90" "18" "48603886" "48611412" "del" "0" "01917" "SMAD4_000222" "g.(48603147_48604625)_(48611412_?)del" "" "" "" "del exon 12" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595900" "0" "90" "18" "48598283" "48611412" "del" "0" "01917" "SMAD4_000216" "g.(48593558_48603007)_(48611412_?)del" "" "" "" "del exon 11-12" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595901" "0" "90" "18" "48592683" "48611412" "del" "0" "01917" "SMAD4_000213" "g.(48591977_48593388)_(48611412_?)del" "" "" "" "del exon 10-12" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595902" "0" "90" "18" "48598283" "48611412" "del" "0" "01917" "SMAD4_000216" "g.(48593558_48603007)_(48611412_?)del" "" "" "" "del exon 10-11" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595903" "0" "90" "18" "48598283" "48603886" "del" "0" "01917" "SMAD4_000215" "g.(48593558_48603007)_(48603147_48604625)del" "" "" "" "del exon 10" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595904" "0" "90" "18" "48598283" "48603886" "del" "0" "01917" "SMAD4_000215" "g.(48593558_48603007)_(48603147_48604625)del" "" "" "" "del exon 10" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595905" "0" "90" "18" "48598283" "48603886" "del" "0" "01917" "SMAD4_000215" "g.(48593558_48603007)_(48603147_48604625)del" "" "" "" "del exon 10" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595906" "0" "90" "18" "48573416" "48575448" "del" "0" "01917" "SMAD4_000202" "g.(?_48573416)_(48575231_48575664)del" "" "" "" "del exon 1+2" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595907" "0" "99" "18" "48584519" "48584519" "dup" "0" "01917" "SMAD4_000015" "g.48584519dup" "" "" "" "691-692insG" "" "Germline" "" "" "0" "" "" "g.51058149dup" "" "pathogenic (dominant)" "" "0000595908" "0" "99" "18" "48584519" "48584519" "dup" "0" "01917" "SMAD4_000015" "g.48584519dup" "" "" "" "691-692insG" "" "Germline" "" "" "0" "" "" "g.51058149dup" "" "pathogenic (dominant)" "" "0000595909" "0" "99" "18" "48581272" "48581272" "dup" "0" "01917" "SMAD4_000210" "g.48581272dup" "" "" "" "576_577insA" "" "Germline" "" "" "0" "" "" "g.51054902dup" "" "pathogenic (dominant)" "" "0000595910" "0" "99" "18" "48581239" "48581239" "del" "0" "01917" "SMAD4_000143" "g.48581239del" "" "" "" "543_543delC" "" "Germline" "" "" "0" "" "" "g.51054869del" "" "pathogenic (dominant)" "" "0000595911" "0" "99" "18" "48581239" "48581239" "del" "0" "01917" "SMAD4_000143" "g.48581239del" "" "" "" "543_543delC" "" "Germline" "" "" "0" "" "" "g.51054869del" "" "pathogenic (dominant)" "" "0000595912" "0" "55" "18" "48581239" "48581239" "subst" "0" "01917" "SMAD4_000208" "g.48581239C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51054869C>G" "" "VUS" "" "0000595913" "0" "99" "18" "48581229" "48581229" "subst" "0" "01917" "SMAD4_000042" "g.48581229C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51054859C>G" "" "pathogenic (dominant)" "" "0000595914" "0" "99" "18" "48581229" "48581229" "subst" "0" "01917" "SMAD4_000042" "g.48581229C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51054859C>G" "" "pathogenic (dominant)" "" "0000595915" "0" "99" "18" "48581229" "48581229" "subst" "0" "01917" "SMAD4_000042" "g.48581229C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51054859C>G" "" "pathogenic (dominant)" "" "0000595916" "0" "99" "18" "48581213" "48581223" "del" "0" "01917" "SMAD4_000041" "g.48581213_48581223del" "" "" "" "517_527del11" "" "Germline" "" "" "0" "" "" "g.51054843_51054853del" "" "pathogenic (dominant)" "" "0000595917" "0" "99" "18" "48581213" "48581223" "del" "0" "01917" "SMAD4_000041" "g.48581213_48581223del" "" "" "" "517_527del11" "" "Germline" "" "" "0" "" "" "g.51054843_51054853del" "" "pathogenic (dominant)" "" "0000595918" "0" "99" "18" "48581213" "48581223" "del" "0" "01917" "SMAD4_000041" "g.48581213_48581223del" "" "" "" "517_527del11" "" "Germline" "" "" "0" "" "" "g.51054843_51054853del" "" "pathogenic (dominant)" "" "0000595919" "0" "99" "18" "48581213" "48581223" "del" "0" "01917" "SMAD4_000041" "g.48581213_48581223del" "" "" "" "517_527del11" "" "Germline" "" "" "0" "" "" "g.51054843_51054853del" "" "pathogenic (dominant)" "" "0000595920" "0" "99" "18" "48581213" "48581223" "del" "0" "01917" "SMAD4_000041" "g.48581213_48581223del" "" "" "" "517_527del11" "" "Germline" "" "" "0" "" "" "g.51054843_51054853del" "" "pathogenic (dominant)" "" "0000595921" "0" "99" "18" "48581213" "48581223" "del" "0" "01917" "SMAD4_000041" "g.48581213_48581223del" "" "" "" "517_527del11" "" "Germline" "" "" "0" "" "" "g.51054843_51054853del" "" "pathogenic (dominant)" "" "0000595922" "0" "99" "18" "48581213" "48581223" "del" "0" "01917" "SMAD4_000041" "g.48581213_48581223del" "" "" "" "517_527del11" "" "Germline" "" "" "0" "" "" "g.51054843_51054853del" "" "pathogenic (dominant)" "" "0000595923" "0" "99" "18" "48575677" "48575677" "subst" "0" "01917" "SMAD4_000040" "g.48575677T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51049307T>A" "" "pathogenic (dominant)" "" "0000595924" "0" "99" "18" "48575209" "48575209" "subst" "0" "01917" "SMAD4_000038" "g.48575209C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51048839C>T" "" "pathogenic (dominant)" "" "0000595925" "0" "99" "18" "48575209" "48575209" "subst" "0" "01917" "SMAD4_000038" "g.48575209C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51048839C>T" "" "pathogenic (dominant)" "" "0000595926" "0" "99" "18" "48575209" "48575209" "subst" "0" "01917" "SMAD4_000038" "g.48575209C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51048839C>T" "" "pathogenic (dominant)" "" "0000595927" "0" "55" "18" "48575186" "48575186" "subst" "0" "01917" "SMAD4_000009" "g.48575186G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51048816G>T" "" "VUS" "" "0000595928" "0" "99" "18" "48575066" "48575067" "del" "0" "01917" "SMAD4_000206" "g.48575066_48575067del" "" "" "" "260_261delGG" "" "Germline" "" "" "0" "" "" "g.51048696_51048697del" "" "pathogenic (dominant)" "" "0000595929" "0" "99" "18" "48575066" "48575067" "del" "0" "01917" "SMAD4_000206" "g.48575066_48575067del" "" "" "" "260_261delGG" "" "Germline" "" "" "0" "" "" "g.51048696_51048697del" "" "pathogenic (dominant)" "" "0000595930" "0" "99" "18" "48575066" "48575067" "del" "0" "01917" "SMAD4_000206" "g.48575066_48575067del" "" "" "" "260_261delGG" "" "Germline" "" "" "0" "" "" "g.51048696_51048697del" "" "pathogenic (dominant)" "" "0000595931" "0" "99" "18" "48575066" "48575067" "del" "0" "01917" "SMAD4_000206" "g.48575066_48575067del" "" "" "" "260_261delGG" "" "Germline" "" "" "0" "" "" "g.51048696_51048697del" "" "pathogenic (dominant)" "" "0000595932" "1" "55" "18" "48573436" "48573436" "subst" "0.000048769" "01917" "SMAD4_000204" "g.48573436C>T" "" "" "" "20C>T / 1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51047066C>T" "" "VUS" "" "0000595933" "1" "55" "18" "48573436" "48573436" "subst" "0.000048769" "01917" "SMAD4_000204" "g.48573436C>T" "" "" "" "20C>T / 1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51047066C>T" "" "VUS" "" "0000595934" "0" "90" "18" "48556763" "48611412" "del" "0" "01917" "SMAD4_000201" "g.48556763_48611412del" "" "" "" "-17093-?_1659+?del" "" "Germline" "" "" "0" "" "" "g.51030393_51085042del" "" "VUS" "" "0000595935" "0" "90" "18" "48556763" "48611412" "del" "0" "01917" "SMAD4_000201" "g.48556763_48611412del" "" "" "" "-17093-?_1659+?del" "" "Germline" "" "" "0" "" "" "g.51030393_51085042del" "" "VUS" "" "0000595936" "0" "90" "18" "48556763" "48611412" "del" "0" "01917" "SMAD4_000201" "g.48556763_48611412del" "" "" "" "-17093-?_1659+?del" "" "Germline" "" "" "0" "" "" "g.51030393_51085042del" "" "VUS" "" "0000595937" "0" "99" "18" "48604725" "48604728" "dup" "0" "01917" "SMAD4_000061" "g.48604725_48604728dup" "" "" "" "1547_1549delinsAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000595938" "0" "99" "18" "48604725" "48604728" "dup" "0" "01917" "SMAD4_000061" "g.48604725_48604728dup" "" "" "" "1547_1549delinsAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000595939" "0" "99" "18" "48604725" "48604728" "dup" "0" "01917" "SMAD4_000061" "g.48604725_48604728dup" "" "" "" "1547_1549delinsAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000595940" "0" "99" "18" "48604725" "48604728" "dup" "0" "01917" "SMAD4_000061" "g.48604725_48604728dup" "" "" "" "1547_1549delinsAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000595941" "0" "99" "18" "48604725" "48604728" "dup" "0" "01917" "SMAD4_000061" "g.48604725_48604728dup" "" "" "" "1547_1549delinsAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000595942" "0" "99" "18" "48604725" "48604728" "dup" "0" "01917" "SMAD4_000061" "g.48604725_48604728dup" "" "" "" "1547_1549delinsAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000595943" "0" "99" "18" "48604725" "48604728" "dup" "0" "01917" "SMAD4_000061" "g.48604725_48604728dup" "" "" "" "1547_1549delinsAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000595944" "0" "99" "18" "48604725" "48604728" "dup" "0" "01917" "SMAD4_000061" "g.48604725_48604728dup" "" "" "" "1547_1549delinsAGAG" "" "Germline" "" "" "0" "" "" "g.51078355_51078358dup" "" "pathogenic (dominant)" "" "0000595945" "0" "99" "18" "48603139" "48603139" "del" "0" "01917" "SMAD4_000221" "g.48603139del" "" "" "" "1440_1440delA" "" "Germline" "" "" "0" "" "" "g.51076769del" "" "pathogenic (dominant)" "" "0000595946" "0" "99" "18" "48603120" "48603120" "del" "0" "01917" "SMAD4_000056" "g.48603120del" "" "" "" "1421_1421delC" "" "Germline" "" "" "0" "" "" "g.51076750del" "" "pathogenic (dominant)" "" "0000595947" "0" "99" "18" "48603120" "48603120" "del" "0" "01917" "SMAD4_000056" "g.48603120del" "" "" "" "1421_1421delC" "" "Germline" "" "" "0" "" "" "g.51076750del" "" "pathogenic (dominant)" "" "0000595948" "0" "99" "18" "48603050" "48603074" "dup" "0" "01917" "SMAD4_000220" "g.48603050_48603074dup" "" "" "" "1351_1375dupGCGGCTACTGCACAAGCTGCAGCAG" "" "Germline" "" "" "0" "" "" "g.51076680_51076704dup" "" "pathogenic (dominant)" "" "0000595949" "0" "99" "18" "48603035" "48603035" "subst" "0" "01917" "SMAD4_000218" "g.48603035C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51076665C>T" "" "pathogenic (dominant)" "" "0000595950" "0" "99" "18" "48603032" "48603032" "subst" "0.00000406359" "01917" "SMAD4_000051" "g.48603032C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51076662C>T" "" "pathogenic (dominant)" "" "0000595951" "0" "99" "18" "48603010" "48603010" "dup" "0" "01917" "SMAD4_000217" "g.48603010dup" "" "" "" "1311_1312insC" "" "Germline" "" "" "0" "" "" "g.51076640dup" "" "pathogenic (dominant)" "" "0000595952" "0" "99" "18" "48603010" "48603010" "dup" "0" "01917" "SMAD4_000217" "g.48603010dup" "" "" "" "1311_1312insC" "" "Germline" "" "" "0" "" "" "g.51076640dup" "" "pathogenic (dominant)" "" "0000595953" "0" "99" "18" "48603010" "48603010" "dup" "0" "01917" "SMAD4_000217" "g.48603010dup" "" "" "" "1311_1312insC" "" "Germline" "" "" "0" "" "" "g.51076640dup" "" "pathogenic (dominant)" "" "0000595954" "0" "99" "18" "48603010" "48603010" "dup" "0" "01917" "SMAD4_000217" "g.48603010dup" "" "" "" "1311_1312insC" "" "Germline" "" "" "0" "" "" "g.51076640dup" "" "pathogenic (dominant)" "" "0000595955" "0" "99" "18" "48603010" "48603010" "dup" "0" "01917" "SMAD4_000217" "g.48603010dup" "" "" "" "1311_1312insC" "" "Germline" "" "" "0" "" "" "g.51076640dup" "" "pathogenic (dominant)" "" "0000595956" "0" "70" "18" "48593558" "48593558" "subst" "0" "01917" "SMAD4_000130" "g.48593558G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51067188G>A" "" "VUS" "" "0000595957" "0" "99" "18" "48593513" "48593514" "delins" "0" "01917" "SMAD4_000163" "g.48593513_48593514delinsA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51067143_51067144delinsA" "" "pathogenic (dominant)" "" "0000595958" "0" "99" "18" "48593513" "48593514" "delins" "0" "01917" "SMAD4_000163" "g.48593513_48593514delinsA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51067143_51067144delinsA" "" "pathogenic (dominant)" "" "0000595959" "1" "55" "18" "48573436" "48573436" "subst" "0.000048769" "01917" "SMAD4_000204" "g.48573436C>T" "" "" "" "1244_1247delACAG + 20C>T" "" "Germline" "" "" "0" "" "" "g.51047066C>T" "" "VUS" "" "0000595960" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595961" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595962" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595963" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595964" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595965" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595966" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595967" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595968" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595969" "0" "70" "18" "48593388" "48593388" "subst" "0" "01917" "SMAD4_000120" "g.48593388G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51067018G>A" "" "VUS" "" "0000595970" "0" "55" "18" "48591924" "48591924" "subst" "0" "01917" "SMAD4_000026" "g.48591924T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51065554T>C" "" "VUS" "" "0000595971" "0" "99" "18" "48591918" "48591918" "subst" "0" "01917" "SMAD4_000007" "g.48591918C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51065548C>T" "" "pathogenic (dominant)" "" "0000595972" "0" "99" "18" "48591918" "48591918" "subst" "0" "01917" "SMAD4_000007" "g.48591918C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51065548C>T" "" "pathogenic (dominant)" "" "0000595973" "0" "99" "18" "48591918" "48591918" "subst" "0" "01917" "SMAD4_000022" "g.48591918C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51065548C>G" "" "pathogenic (dominant)" "" "0000595974" "0" "99" "18" "48591891" "48591891" "subst" "0" "01917" "SMAD4_000006" "g.48591891G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51065521G>A" "" "pathogenic (dominant)" "" "0000595975" "0" "55" "18" "48591889" "48591889" "subst" "0" "01917" "SMAD4_000211" "g.48591889A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51065519A>T" "" "VUS" "" "0000595976" "0" "99" "18" "48591879" "48591880" "del" "0" "01917" "SMAD4_000014" "g.48591879_48591880del" "" "" "" "1042-3 delGT" "" "Germline" "" "" "0" "" "" "g.51065509_51065510del" "" "pathogenic (dominant)" "" "0000595977" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595978" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595979" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595980" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595981" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Burmester 2016:10.1016/j.dld.2016.06.010}" "" "1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595982" "0" "55" "18" "48604620" "48604620" "subst" "0" "01917" "SMAD4_000223" "g.48604620T>C" "" "{DOI:Nasim 2011:10.1002/humu.21605}" "" "" "" "Germline" "" "" "0" "" "" "g.51078250T>C" "" "VUS" "" "0000595983" "0" "55" "18" "48573454" "48573454" "subst" "0.00000406329" "01917" "SMAD4_000004" "g.48573454A>G" "" "{DOI:Nasim 2011:10.1002/humu.21605}" "" "" "" "Germline" "" "" "0" "" "" "g.51047084A>G" "" "VUS" "" "0000595984" "0" "99" "18" "48593443" "48593443" "subst" "0" "01917" "SMAD4_000214" "g.48593443G>A" "" "{DOI:Martin-Morales 2018:10.1371/journal.pone.0203885}" "" "W398Ter" "" "Germline" "" "" "0" "" "" "g.51067073G>A" "" "pathogenic (dominant)" "" "0000595985" "0" "99" "18" "48584572" "48584572" "subst" "0" "01917" "SMAD4_000147" "g.48584572C>T" "" "{DOI:Pantelis 2016:10.1007/s00384-016-2656-9}" "" "" "" "Germline" "" "" "0" "" "" "g.51058202C>T" "" "pathogenic (dominant)" "" "0000595986" "0" "55" "18" "48604701" "48604701" "subst" "0" "01917" "SMAD4_000224" "g.48604701G>A" "" "Banks 2017; American Journal of Gastroenterology; 112; Supplement 1; S1101" "" "" "" "Germline" "" "" "0" "" "" "g.51078331G>A" "" "VUS" "" "0000595987" "0" "55" "18" "48604701" "48604701" "subst" "0" "01917" "SMAD4_000224" "g.48604701G>A" "" "Banks 2017; American Journal of Gastroenterology; 112; Supplement 1; S1101" "" "" "" "Germline" "" "" "0" "" "" "g.51078331G>A" "" "VUS" "" "0000595988" "0" "55" "18" "48591889" "48591889" "subst" "0" "01917" "SMAD4_000211" "g.48591889A>T" "" "{DOI:Karnsakul 2017:10.1007/s10456-017-9584-3}" "" "" "" "Germline" "" "" "0" "" "" "g.51065519A>T" "" "VUS" "" "0000595989" "0" "99" "18" "" "" "" "" "01917" "SMCHD1_000000" "g.?" "" "{DOI:Brusgaard 2017:10.1007/s10456-017-9584-3}" "" "t(1;18)(p36.1;q21.1)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000595990" "0" "99" "18" "" "" "" "" "01917" "SMCHD1_000000" "g.?" "" "{DOI:Brusgaard 2017:10.1007/s10456-017-9584-3}" "" "t(1;18)(p36.1;q21.1)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000595991" "0" "55" "18" "" "" "" "" "01917" "SMCHD1_000000" "g.?" "" "Hao et al 2017, IJCEM, IJCEM0043096" "" "SMAD4: pT>G(3576), pA>C(3666), pC>T(4248), pA>G(7732), pA>C(8191); inT(7639); del1(7735-7748), del2(8058-8062). GDF2: pG>A(1775)." "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595992" "0" "99" "18" "48591947" "48591951" "del" "0" "01917" "SMAD4_000212" "g.48591947_48591951del" "" "{DOI:Rohlin 2016:10.1007/s10689-016-9934-0}" "" "1110_1114delCCACA" "" "Germline" "" "" "0" "" "" "g.51065577_51065581del" "" "pathogenic (dominant)" "" "0000595993" "0" "99" "18" "48573569" "48573569" "del" "0" "01917" "SMAD4_000205" "g.48573569del" "" "{DOI:Stoffel 2018:10.1053/j.gastro.2017.11.004}" "" "153delA" "" "Germline" "" "" "0" "" "" "g.51047199del" "" "pathogenic (dominant)" "" "0000595994" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Stoffel 2018:10.1053/j.gastro.2017.11.004}" "" "1245-1248delCAGT" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000595995" "0" "99" "18" "48603032" "48603032" "subst" "0.00000406359" "01917" "SMAD4_000051" "g.48603032C>T" "" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "Exon 10, R445X" "" "Germline" "" "rs377767360" "0" "" "" "g.51076662C>T" "" "pathogenic (dominant)" "" "0000595996" "0" "99" "18" "48603032" "48603032" "subst" "0.00000406359" "01917" "SMAD4_000051" "g.48603032C>T" "" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "Exon 10, R445X" "" "Germline" "" "rs377767360" "0" "" "" "g.51076662C>T" "" "pathogenic (dominant)" "" "0000595997" "0" "99" "18" "48603032" "48603032" "subst" "0.00000406359" "01917" "SMAD4_000051" "g.48603032C>T" "" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "Exon 10, R445X" "" "Germline" "" "rs377767360" "0" "" "" "g.51076662C>T" "" "pathogenic (dominant)" "" "0000595998" "0" "99" "18" "48603032" "48603032" "subst" "0.00000406359" "01917" "SMAD4_000051" "g.48603032C>T" "" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "Exon 10, R445X" "" "Germline" "" "rs377767360" "0" "" "" "g.51076662C>T" "" "pathogenic (dominant)" "" "0000595999" "0" "99" "18" "48603032" "48603032" "subst" "0.00000406359" "01917" "SMAD4_000051" "g.48603032C>T" "" "{DOI:Andrabi 2011:10.1002/ajmg.a.33968}" "" "Exon 10, R445X" "" "Germline" "" "rs377767360" "0" "" "" "g.51076662C>T" "" "pathogenic (dominant)" "" "0000596000" "0" "99" "18" "48604766" "48604766" "del" "0" "01917" "SMAD4_000067" "g.48604766del" "" "{PMID:Szigeti 2012:23090737}" "" "1588delC" "" "Germline" "" "rs377767377" "0" "" "" "g.51078396del" "" "pathogenic (dominant)" "" "0000596001" "0" "55" "18" "48581239" "48581239" "subst" "0" "01917" "SMAD4_000209" "g.48581239C>T" "" "{PMID:Szigeti 2012:23090737}" "" "1081C>T" "" "Germline" "" "" "0" "" "" "g.51054869C>T" "" "VUS" "" "0000596002" "0" "99" "18" "48603048" "48603075" "dup" "0" "01917" "SMAD4_000219" "g.48603048_48603075dup" "" "{DOI:Teekakirikul 2012:10.1002/ajmg.a.35659}" "" "1340_1367dup" "" "De novo" "" "rs876660720" "0" "" "" "g.51076678_51076705dup" "" "pathogenic (dominant)" "" "0000596003" "0" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "{DOI:Teekakirikul 2012:10.1002/ajmg.a.35659}" "" "1245_1248delCAGA" "" "Germline" "" "rs80338965" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000596004" "0" "99" "18" "48604676" "48604676" "subst" "0.00000406121" "01917" "SMAD4_000003" "g.48604676A>G" "" "{DOI:Need 2012:10.1136/jmedgenet-2012-100819£" "" "I500V" "" "De novo" "" "rs281875322" "0" "" "" "g.51078306A>G" "" "pathogenic (dominant)" "" "0000596005" "1" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "20C>T / 1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000596006" "1" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "20C>T / 1244_1247delACAG" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000596007" "1" "99" "18" "48593494" "48593497" "del" "0" "01917" "SMAD4_000012" "g.48593494_48593497del" "" "" "" "1244_1247delACAG + 20C>T" "" "Germline" "" "" "0" "" "" "g.51067124_51067127del" "" "pathogenic (dominant)" "" "0000617200" "0" "30" "18" "48573644" "48573644" "subst" "0.000036616" "02330" "SMAD4_000093" "g.48573644A>G" "" "" "" "SMAD4(NM_005359.5):c.228A>G (p.R76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51047274A>G" "" "likely benign" "" "0000617201" "0" "30" "18" "48586145" "48586145" "subst" "0" "02327" "SMAD4_000226" "g.48586145A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51059775A>G" "" "likely benign" "" "0000617202" "0" "30" "18" "48603172" "48603172" "subst" "0.000025592" "02327" "SMAD4_000227" "g.48603172A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51076802A>G" "" "likely benign" "" "0000617203" "0" "90" "18" "48604664" "48604664" "subst" "0.00000812341" "01804" "SMAD4_000112" "g.48604664C>T" "" "" "" "SMAD4(NM_005359.5):c.1486C>T (p.(Arg496Cys), p.R496C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51078294C>T" "" "pathogenic" "" "0000617204" "0" "30" "18" "48604711" "48604711" "subst" "0.00000406187" "02327" "SMAD4_000228" "g.48604711G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51078341G>A" "" "likely benign" "" "0000617205" "0" "30" "18" "48604751" "48604751" "subst" "0.000560438" "02327" "SMAD4_000086" "g.48604751A>G" "" "" "" "SMAD4(NM_005359.5):c.1573A>G (p.I525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51078381A>G" "" "likely benign" "" "0000623866" "0" "30" "18" "48575100" "48575100" "subst" "0.00000812381" "02330" "SMAD4_000225" "g.48575100C>T" "" "" "" "SMAD4(NM_005359.5):c.294C>T (p.L98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51048730C>T" "" "likely benign" "" "0000649835" "1" "90" "18" "48603037" "48603038" "del" "0" "03575" "SMAD4_000229" "g.48603037_48603038del" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs730881957}" "Germline" "" "rs730881957" "0" "" "" "g.51076667_51076668del" "" "pathogenic" "" "0000649836" "1" "70" "18" "48603057" "48603057" "subst" "0" "03575" "SMAD4_000230" "g.48603057C>T" "3/2774 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs786205514}" "Germline" "" "rs786205514" "0" "" "" "g.51076687C>T" "" "likely pathogenic" "" "0000649837" "1" "30" "18" "48604848" "48604848" "subst" "0.00508409" "03575" "SMAD4_000114" "g.48604848C>T" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs11663402}" "Germline" "" "rs11663402" "0" "" "" "g.51078478C>T" "" "likely benign" "" "0000649838" "1" "30" "18" "48606016" "48606016" "subst" "0" "03575" "SMAD4_000231" "g.48606016T>C" "34/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous, no homozygous; {DB:CLININrs10470}" "Germline" "" "rs10470" "0" "" "" "g.51079646T>C" "" "likely benign" "" "0000658404" "0" "30" "18" "48585042" "48585042" "subst" "0" "02329" "SMAD4_000232" "g.48585042C>T" "" "" "" "SMAD4(NM_005359.5):c.904+216C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51058672C>T" "" "likely benign" "" "0000658405" "0" "30" "18" "48586240" "48586240" "subst" "0.0000121872" "02330" "SMAD4_000233" "g.48586240T>G" "" "" "" "SMAD4(NM_005359.5):c.909T>G (p.P303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51059870T>G" "" "likely benign" "" "0000658406" "0" "50" "18" "48586278" "48586278" "subst" "0.0000528082" "01943" "SMAD4_000234" "g.48586278A>G" "" "" "" "SMAD4(NM_005359.5):c.947A>G (p.N316S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51059908A>G" "" "VUS" "" "0000658407" "0" "30" "18" "48604751" "48604751" "subst" "0.000560438" "02326" "SMAD4_000086" "g.48604751A>G" "" "" "" "SMAD4(NM_005359.5):c.1573A>G (p.I525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51078381A>G" "" "likely benign" "" "0000681171" "0" "30" "18" "48573736" "48573736" "subst" "0" "02327" "SMAD4_000235" "g.48573736A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681172" "0" "90" "18" "48575209" "48575209" "subst" "0" "01943" "SMAD4_000038" "g.48575209C>T" "" "" "" "SMAD4(NM_005359.5):c.403C>T (p.R135*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681173" "0" "30" "18" "48584837" "48584837" "subst" "0" "02329" "SMAD4_000101" "g.48584837G>A" "" "" "" "SMAD4(NM_005359.5):c.904+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726921" "0" "30" "18" "48581347" "48581347" "subst" "0" "02327" "SMAD4_000236" "g.48581347T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726922" "0" "50" "18" "48591883" "48591883" "subst" "0.0000243685" "01804" "SMAD4_000107" "g.48591883C>T" "" "" "" "SMAD4(NM_005359.5):c.1046C>T (p.T349I, p.(Thr349Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726923" "0" "50" "18" "48591883" "48591883" "subst" "0.0000243685" "02325" "SMAD4_000107" "g.48591883C>T" "" "" "" "SMAD4(NM_005359.5):c.1046C>T (p.T349I, p.(Thr349Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726924" "0" "90" "18" "48603032" "48603032" "subst" "0.00000406359" "02327" "SMAD4_000051" "g.48603032C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726925" "0" "90" "18" "48604664" "48604664" "subst" "0.00000812341" "02329" "SMAD4_000112" "g.48604664C>T" "" "" "" "SMAD4(NM_005359.5):c.1486C>T (p.(Arg496Cys), p.R496C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726926" "0" "90" "18" "48604664" "48604664" "subst" "0.00000812341" "02327" "SMAD4_000112" "g.48604664C>T" "" "" "" "SMAD4(NM_005359.5):c.1486C>T (p.(Arg496Cys), p.R496C)" "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 SMAD4 ## Count = 610 "{{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}}" "0000021761" "00019407" "50" "380" "0" "380" "0" "c.380G>T" "r.(?)" "p.(Cys127Phe)" "4" "0000064345" "00019407" "10" "905" "-199" "905" "-196" "c.905-199_905-196del" "r.(=)" "p.(=)" "7i" "0000064346" "00019407" "90" "1448" "0" "1448" "0" "c.1448del" "r.spl?" "p.(Ser483Ilefs*21)" "12" "0000064347" "00019407" "10" "249" "24" "249" "24" "c.249+24A>G" "r.(=)" "p.(=)" "2i" "0000064348" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000078598" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000078607" "00019407" "90" "1042" "0" "1043" "0" "c.1042_1043del" "r.(?)" "p.(Val348Tyrfs*3)" "9" "0000078608" "00019407" "90" "692" "0" "692" "0" "c.692dup" "r.(?)" "p.(Ser232Glnfs*3)" "6" "0000078609" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000078610" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000078611" "00019407" "99" "692" "0" "692" "0" "c.692dup" "r.(?)" "p.(Ser232Glnfs*3)" "6" "0000078758" "00019407" "95" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "9" "0000078759" "00019407" "99" "831" "0" "832" "0" "c.831_832del" "r.(?)" "p.(Pro278*)" "3" "0000078760" "00019407" "95" "533" "0" "533" "0" "c.533C>G" "r.(?)" "p.(Ser178*)" "5" "0000078761" "00019407" "99" "1058" "0" "1058" "0" "c.1058A>C" "r.(?)" "p.(Tyr353Ser)" "9" "0000078762" "00019407" "59" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "7" "0000078763" "00019407" "59" "517" "0" "527" "0" "c.517_527del" "r.(?)" "p.(Ser173Thrfs*12)" "2" "0000078764" "00019407" "59" "1564" "0" "1565" "0" "c.1564_1565del" "r.(?)" "p.(Pro522Leufs*4)" "9" "0000078765" "00019407" "95" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Arg361His)" "9" "0000078766" "00019407" "99" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Gln388*)" "10" "0000078767" "00019407" "95" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Glu390Lys)" "10" "0000078768" "00019407" "99" "424" "1" "424" "1" "c.424+1G>A" "r.spl" "p.?" "2i" "0000078769" "00019407" "99" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Gln180*)" "2" "0000078771" "00019407" "99" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Gln448*)" "7" "0000078772" "00019407" "99" "1544" "0" "1544" "0" "c.1544del" "r.(?)" "p.(Arg515Asnfs*22)" "9" "0000078773" "00019407" "99" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "9" "0000078774" "00019407" "99" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000078775" "00019407" "99" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000078776" "00019407" "99" "1588" "0" "1588" "0" "c.1588del" "r.(?)" "p.(His530Thrfs*7)" "12" "0000078777" "00019407" "99" "608" "0" "608" "0" "c.608del" "r.(?)" "p.(Pro203Hisfs*38)" "5" "0000078778" "00019407" "99" "1037" "0" "1037" "0" "c.1037del" "r.(?)" "p.(Pro346Leufs*38)" "9" "0000078779" "00019407" "99" "1081" "0" "1081" "0" "c.1081C>G" "r.(?)" "p.(Arg361Gly)" "5" "0000078780" "00019407" "99" "1598" "0" "1598" "0" "c.1598T>G" "r.(?)" "p.(Leu533Arg)" "9" "0000078781" "00019407" "99" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Gln534*)" "9" "0000078782" "00019407" "99" "1594" "0" "1594" "0" "c.1594del" "r.(?)" "p.(Ala532Profs*5)" "9" "0000078783" "00019407" "99" "1612" "0" "1625" "0" "c.1612_1625del" "r.(?)" "p.(Glu538Hisfs*34)" "9" "0000078784" "00019407" "95" "1081" "0" "1081" "0" "c.1081C>A" "r.(?)" "p.(Arg361Ser)" "12" "0000078785" "00019407" "95" "1529" "0" "1529" "0" "c.1529G>T" "r.(?)" "p.(Gly510Val)" "9" "0000078786" "00019407" "99" "1236" "0" "1236" "0" "c.1236C>G" "r.(?)" "p.(Tyr412*)" "10" "0000078787" "00019407" "95" "1571" "0" "1571" "0" "c.1571G>T" "r.(?)" "p.(Trp524Leu)" "12" "0000078788" "00019407" "99" "1268" "0" "1268" "0" "c.1268del" "r.(?)" "p.(Gly423Glufs*13)" "10" "0000078789" "00019407" "99" "1242" "0" "1242" "0" "c.1242del" "r.(?)" "p.(Asp415Thrfs*21)" "10" "0000078790" "00019407" "99" "375" "0" "381" "0" "c.375_381dup" "r.(?)" "p.(Val128Cysfs*17)" "3" "0000078791" "00019407" "99" "1607" "0" "1607" "0" "c.1607dup" "r.(?)" "p.(Asp537Argfs*40)" "12" "0000078792" "00019407" "55" "1522" "0" "1522" "0" "c.1522G>C" "r.(?)" "p.(Gly508Arg)" "9" "0000078793" "00019407" "99" "1409" "0" "1410" "0" "c.1409_1410insCCCT" "r.(?)" "p.(Gly471Profs*24)" "7" "0000078794" "00019407" "99" "1308" "1" "1308" "1" "c.1308+1G>A" "r.spl" "p.?" "9i" "0000078795" "00019407" "99" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "3" "0000078796" "00019407" "95" "1091" "0" "1091" "0" "c.1091T>G" "r.(?)" "p.(Leu364Trp)" "9" "0000078797" "00019407" "99" "1113" "0" "1113" "0" "c.1113del" "r.(?)" "p.(His371Glnfs*13)" "9" "0000078798" "00019407" "95" "1088" "0" "1090" "0" "c.1088_1090del" "r.(?)" "p.(Cys363del)" "9" "0000078799" "00019407" "99" "1361" "0" "1364" "0" "c.1361_1364del" "r.(?)" "p.(Ala454Glufs*21)" "11" "0000078800" "00019407" "99" "1597" "0" "1597" "0" "c.1597del" "r.(?)" "p.(Leu533Serfs*4)" "12" "0000078801" "00019407" "99" "430" "0" "431" "0" "c.430_431del" "r.(?)" "p.(Ser144Argfs*7)" "4" "0000078802" "00019407" "99" "731" "0" "732" "0" "c.731_732insGCCC" "r.(?)" "p.(Gln245Profs*20)" "6" "0000078803" "00019407" "99" "925" "0" "928" "0" "c.925_928dup" "r.(?)" "p.(Phe310Cysfs*13)" "8" "0000078804" "00019407" "99" "982" "0" "982" "0" "c.982dup" "r.(?)" "p.(Tyr328Leufs*3)" "9" "0000078805" "00019407" "99" "1596" "0" "1597" "0" "c.1596_1597delinsT" "r.(?)" "p.(Leu533Serfs*4)" "9" "0000078806" "00019407" "99" "425" "-6" "425" "-6" "c.425-6A>G" "r.spl?" "p.(=)" "3i" "0000078807" "00019407" "99" "1139" "0" "1139" "0" "c.1139G>A" "r.1003_1139del" "p.Gly336Alafs*11" "9" "0000078808" "00019407" "99" "437" "0" "437" "0" "c.437T>A" "r.(?)" "p.(Leu146*)" "2" "0000078809" "00019407" "99" "1087" "0" "1087" "0" "c.1087T>C" "r.(?)" "p.(Cys363Arg)" "5" "0000078810" "00019407" "99" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Ser474*)" "7" "0000078811" "00019407" "95" "970" "0" "970" "0" "c.970T>C" "r.(?)" "p.(Cys324Arg)" "9" "0000078812" "00019407" "95" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Trp398*)" "10" "0000078813" "00019407" "99" "971" "0" "971" "0" "c.971del" "r.(?)" "p.(Cys324Phefs*12)" "9" "0000078814" "00019407" "99" "1587" "0" "1587" "0" "c.1587dup" "r.(?)" "p.(His530Thrfs*47)" "12" "0000078815" "00019407" "99" "1527" "0" "1527" "0" "c.1527G>A" "r.(?)" "p.(Trp509*)" "13" "0000078816" "00019407" "99" "1139" "1" "1139" "1" "c.1139+1G>A" "r.spl" "p.?" "9i" "0000078817" "00019407" "99" "373" "0" "374" "0" "c.373_374insAT" "r.(?)" "p.(Ser125Asnfs*5)" "3" "0000078818" "00019407" "95" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Trp101*)" "3" "0000078819" "00019407" "95" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Glu330Lys)" "9" "0000078820" "00019407" "95" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Gly352Glu)" "9" "0000078821" "00019407" "95" "1082" "0" "1082" "0" "c.1082G>T" "r.(?)" "p.(Arg361Leu)" "9" "0000078822" "00019407" "99" "1148" "0" "1148" "0" "c.1148T>A" "r.(?)" "p.(Ile383Lys)" "10" "0000078823" "00019407" "99" "1598" "0" "1598" "0" "c.1598T>C" "r.(?)" "p.(Leu533Pro)" "12" "0000078824" "00019407" "95" "1102" "0" "1103" "0" "c.1102_1103del" "r.(?)" "p.(Ser368Glnfs*9)" "9" "0000078825" "00019407" "99" "1586" "0" "1587" "0" "c.1586_1587dup" "r.(?)" "p.(His530Tyrfs*8)" "12" "0000078826" "00019407" "99" "1228" "0" "1229" "0" "c.1228_1229del" "r.(?)" "p.(Gln410Glufs*18)" "6" "0000078827" "00019407" "55" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(=)" "7" "0000078828" "00019407" "95" "38" "0" "38" "0" "c.38A>G" "r.(?)" "p.(Asn13Ser)" "1" "0000078829" "00019407" "95" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Glu330Gly)" "9" "0000078830" "00019407" "95" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Gly352Arg)" "9" "0000078831" "00019407" "95" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Gly352Arg)" "5" "0000078832" "00019407" "95" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "9" "0000078833" "00019407" "95" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Gly386Asp)" "5" "0000078834" "00019407" "99" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "12" "0000078835" "00019407" "95" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "9" "0000078836" "00019407" "99" "1499" "0" "1499" "0" "c.1499T>C" "r.(?)" "p.(Ile500Thr)" "12" "0000078837" "00019407" "95" "1499" "0" "1499" "0" "c.1499T>C" "r.(?)" "p.(Ile500Thr)" "9" "0000078838" "00019407" "95" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ile500Met)" "9" "0000079320" "00019407" "00" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "" "0000079672" "00019407" "00" "-194457" "0" "8388607" "0" "c.-194457_*29410343del" "r.0?" "p.0?" "" "0000149053" "00019407" "00" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Pro153Ser)" "" "0000149054" "00019407" "00" "466" "0" "466" "0" "c.466A>T" "r.(?)" "p.(Met156Leu)" "" "0000149055" "00019407" "00" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000149056" "00019407" "00" "1106" "0" "1106" "0" "c.1106A>G" "r.(?)" "p.(Asn369Ser)" "" "0000149057" "00019407" "00" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.(Ala406Val)" "" "0000149058" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "" "0000149059" "00019407" "00" "1573" "0" "1573" "0" "c.1573A>G" "r.(?)" "p.(Ile525Val)" "" "0000149060" "00019407" "00" "1573" "0" "1573" "0" "c.1573A>G" "r.(?)" "p.(Ile525Val)" "" "0000171997" "00019407" "90" "1004" "0" "1005" "0" "c.1004_1005insTCAGGTTCAGGTTCAGGTTC" "r.(?)" "p.(Gly336Glnfs*55)" "9" "0000247497" "00019407" "30" "1573" "0" "1573" "0" "c.1573A>G" "r.(?)" "p.(Ile525Val)" "" "0000249738" "00019407" "50" "872" "0" "872" "0" "c.872A>C" "r.(?)" "p.(His291Pro)" "" "0000249967" "00019407" "30" "1573" "0" "1573" "0" "c.1573A>G" "r.(?)" "p.(Ile525Val)" "" "0000250323" "00019407" "30" "228" "0" "228" "0" "c.228A>G" "r.(?)" "p.(Arg76=)" "" "0000250485" "00019407" "30" "250" "-10" "250" "-10" "c.250-10A>G" "r.(=)" "p.(=)" "" "0000251920" "00019407" "30" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Met294Val)" "" "0000252521" "00019407" "90" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "" "0000254058" "00019407" "30" "1573" "0" "1573" "0" "c.1573A>G" "r.(?)" "p.(Ile525Val)" "" "0000255765" "00019407" "90" "1140" "-2" "1140" "-2" "c.1140-2A>G" "r.spl?" "p.?" "" "0000256736" "00019407" "50" "-127" "-2" "-127" "-2" "c.-127-2A>T" "r.spl?" "p.?" "" "0000296039" "00019407" "10" "1670" "0" "1670" "0" "c.*11C>T" "r.(=)" "p.(=)" "" "0000296040" "00019407" "10" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(Phe362=)" "" "0000296042" "00019407" "30" "249" "14" "249" "14" "c.249+14G>A" "r.(=)" "p.(=)" "" "0000296043" "00019407" "10" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Ala118=)" "" "0000296044" "00019407" "30" "955" "18" "955" "18" "c.955+18T>C" "r.(=)" "p.(=)" "" "0000298376" "00019407" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Thr7=)" "" "0000298377" "00019407" "30" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Ala118=)" "" "0000298378" "00019407" "30" "904" "11" "904" "11" "c.904+11G>A" "r.(=)" "p.(=)" "" "0000298379" "00019407" "30" "956" "-16" "956" "-16" "c.956-16C>T" "r.(=)" "p.(=)" "" "0000299594" "00019407" "30" "-127" "-11" "-127" "-10" "c.-127-11_-127-10del" "r.(=)" "p.(=)" "" "0000299595" "00019407" "30" "-127" "-9" "-127" "-9" "c.-127-9C>T" "r.(=)" "p.(=)" "" "0000299596" "00019407" "10" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Ala118=)" "" "0000299597" "00019407" "30" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189His)" "" "0000299598" "00019407" "30" "905" "-3" "905" "-3" "c.905-3T>C" "r.spl?" "p.?" "" "0000299599" "00019407" "50" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000302325" "00019407" "30" "1670" "0" "1670" "0" "c.*11C>T" "r.(=)" "p.(=)" "" "0000302326" "00019407" "90" "1075" "0" "1075" "0" "c.1075G>T" "r.(?)" "p.(Gly359Ter)" "" "0000302327" "00019407" "90" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "" "0000302328" "00019407" "50" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Gly386Asp)" "" "0000302329" "00019407" "10" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(Ala464=)" "" "0000302330" "00019407" "70" "1572" "0" "1572" "0" "c.1572G>C" "r.(?)" "p.(Trp524Cys)" "" "0000302331" "00019407" "50" "904" "14" "904" "14" "c.904+14T>C" "r.(=)" "p.(=)" "" "0000308570" "00019407" "50" "1046" "0" "1046" "0" "c.1046C>T" "r.(?)" "p.(Thr349Ile)" "" "0000308571" "00019407" "30" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(Phe362=)" "" "0000308572" "00019407" "30" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Ala118=)" "" "0000308573" "00019407" "90" "452" "0" "452" "0" "c.452dup" "r.(?)" "p.(Asn151LysfsTer11)" "" "0000338292" "00019407" "10" "424" "19" "424" "19" "c.424+19C>A" "r.(=)" "p.(=)" "" "0000338294" "00019407" "10" "905" "-52" "905" "-52" "c.905-52A>G" "r.(=)" "p.(=)" "" "0000338295" "00019407" "10" "955" "58" "955" "58" "c.955+58C>T" "r.(=)" "p.(=)" "" "0000338296" "00019407" "90" "1140" "-1" "1140" "-1" "c.1140-1G>A" "r.spl?" "p.?" "" "0000338301" "00019407" "10" "1670" "0" "1670" "0" "c.*11C>T" "r.(=)" "p.(=)" "" "0000340882" "00019407" "30" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(Phe362=)" "" "0000342146" "00019407" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000342731" "00019407" "90" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Arg361His)" "" "0000345470" "00019407" "90" "1558" "0" "1558" "0" "c.1558G>T" "r.(?)" "p.(Glu520Ter)" "" "0000346750" "00019407" "90" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "" "0000350053" "00019407" "90" "1058" "0" "1058" "0" "c.1058A>C" "r.(?)" "p.(Tyr353Ser)" "" "0000408626" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.Asp415Glufs*20" "" "0000408627" "00019407" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.Gln410*" "" "0000408628" "00019407" "90" "1527" "0" "1527" "0" "c.1527G>A" "r.(?)" "p.(Trp509*)" "" "0000439056" "00019407" "50" "425" "-6" "425" "-6" "c.425-6A>G" "r.spl?" "p.(=)" "" "0000439058" "00019407" "50" "424" "5" "424" "5" "c.424+5G>A" "r.(?)" "p.?" "" "0000454281" "00019407" "50" "424" "5" "424" "5" "c.424+5G>A" "r.spl?" "p.?" "" "0000454609" "00019407" "55" "-538" "0" "8234" "0" "c.(?_-538)_(*6575_?)del" "r.0" "p.0" "_1_12_" "0000454610" "00019407" "55" "-538" "0" "8234" "0" "c.(?_-538)_(*6575_?)del" "r.0" "p.0" "_1_12_" "0000454611" "00019407" "55" "-538" "0" "8234" "0" "c.(?_-538)_(*6575_?)del" "r.0" "p.0?" "_1_12_" "0000454612" "00019407" "55" "956" "0" "1140" "0" "c.(955+1_956-1)_(1139+1_1140-1)dup" "r.?" "p.?" "8i_9i" "0000454613" "00019407" "55" "956" "0" "1140" "0" "c.(955+1_956-1)_(1139+1_1140-1)dup" "r.?" "p.?" "8i_9i" "0000454614" "00019407" "95" "1321" "0" "1321" "0" "c.1321C>A" "r.(?)" "p.(Arg441Ser)" "11" "0000454615" "00019407" "95" "1321" "0" "1321" "0" "c.1321C>A" "r.(?)" "p.(Arg441Ser)" "11" "0000454616" "00019407" "99" "1325" "0" "1326" "0" "c.1325_1326del" "r.(?)" "p.(Gln442Leufs*51)" "11" "0000454617" "00019407" "99" "1325" "0" "1326" "0" "c.1325_1326del" "r.(?)" "p.(Gln442Leufs*51)" "11" "0000454618" "00019407" "99" "1325" "0" "1326" "0" "c.1325_1326del" "r.(?)" "p.(Gln442Leufs*51)" "11" "0000454619" "00019407" "99" "1325" "0" "1326" "0" "c.1325_1326del" "r.(?)" "p.(Gln442Leufs*51)" "11" "0000454620" "00019407" "59" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "11" "0000454621" "00019407" "59" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "11" "0000454622" "00019407" "59" "1343" "0" "1365" "0" "c.1343_1365del" "r.(?)" "p.(Gln448Argfs*38)" "11" "0000454623" "00019407" "99" "1343" "0" "1365" "0" "c.1343_1365del" "r.(?)" "p.(Gln448Argfs*38)" "11" "0000454624" "00019407" "99" "1343" "0" "1365" "0" "c.1343_1365del" "r.(?)" "p.(Gln448Argfs*38)" "11" "0000454625" "00019407" "59" "1343" "0" "1367" "0" "c.1343_1367del" "r.(?)" "p.(Gln448Leufs*20)" "11" "0000454626" "00019407" "59" "1343" "0" "1367" "0" "c.1343_1367del" "r.(?)" "p.(Gln448Leufs*20)" "11" "0000454627" "00019407" "59" "1343" "0" "1367" "0" "c.1343_1367del" "r.(?)" "p.(Gln448Leufs*20)" "11" "0000454628" "00019407" "59" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Gln455*)" "11" "0000454629" "00019407" "59" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Gln455*)" "11" "0000454630" "00019407" "59" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000454631" "00019407" "59" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000454632" "00019407" "59" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000454633" "00019407" "59" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000454634" "00019407" "59" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000454635" "00019407" "59" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000454636" "00019407" "59" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000454637" "00019407" "59" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "10" "0000454638" "00019407" "99" "1372" "0" "1375" "0" "c.1372_1375del" "r.(?)" "p.(Ala458Leufs*17)" "11" "0000454639" "00019407" "99" "1372" "0" "1375" "0" "c.1372_1375del" "r.(?)" "p.(Ala458Leufs*17)" "11" "0000454640" "00019407" "55" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Val465Met)" "11" "0000454641" "00019407" "59" "1411" "0" "1435" "0" "c.1411_1435del" "r.(?)" "p.(Gly471Leufs*25)" "11" "0000454642" "00019407" "59" "1411" "0" "1435" "0" "c.1411_1435del" "r.(?)" "p.(Gly471Leufs*25)" "11" "0000454643" "00019407" "99" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Ser474*)" "11" "0000454644" "00019407" "99" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Ser474*)" "11" "0000454645" "00019407" "99" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Ser474*)" "11" "0000454646" "00019407" "59" "1421" "0" "1421" "0" "c.1421C>G" "r.(?)" "p.(Ser474*)" "11" "0000454647" "00019407" "59" "1421" "0" "1421" "0" "c.1421C>G" "r.(?)" "p.(Ser474*)" "11" "0000454648" "00019407" "59" "1447" "1" "1447" "1" "c.1447+1G>A" "r.spl" "p.?" "11i" "0000454649" "00019407" "59" "1447" "1" "1447" "1" "c.1447+1G>A" "r.spl" "p.?" "11i" "0000454650" "00019407" "59" "1447" "1" "1447" "1" "c.1447+1G>A" "r.spl" "p.?" "11i" "0000454651" "00019407" "59" "1447" "1" "1447" "1" "c.1447+1G>A" "r.spl" "p.?" "11i" "0000454652" "00019407" "59" "1447" "1" "1447" "1" "c.1447+1G>A" "r.spl" "p.?" "11i" "0000454653" "00019407" "59" "1448" "-6" "1448" "-6" "c.1448-6C>T" "r.(?)" "p.(?)" "11i" "0000454654" "00019407" "99" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "12" "0000454655" "00019407" "99" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "12" "0000454656" "00019407" "99" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "12" "0000454657" "00019407" "99" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "12" "0000454658" "00019407" "99" "1499" "0" "1499" "0" "c.1499T>C" "r.(?)" "p.(Ile500Thr)" "12" "0000454659" "00019407" "99" "1499" "0" "1499" "0" "c.1499T>C" "r.(?)" "p.(Ile500Thr)" "12" "0000454660" "00019407" "99" "1507" "0" "1508" "0" "c.1507_1508insATCC" "r.(?)" "p.(Met503Asnfs*25)" "12" "0000454661" "00019407" "99" "1507" "0" "1508" "0" "c.1507_1508insATCC" "r.(?)" "p.(Met503Asnfs*25)" "12" "0000454662" "00019407" "99" "1507" "0" "1508" "0" "c.1507_1508insATCC" "r.(?)" "p.(Met503Asnfs*25)" "12" "0000454663" "00019407" "99" "1507" "0" "1508" "0" "c.1507_1508insATCC" "r.(?)" "p.(Met503Asnfs*25)" "12" "0000454664" "00019407" "55" "1525" "0" "1525" "0" "c.1525T>A" "r.(?)" "p.(Trp509Arg)" "12" "0000454665" "00019407" "95" "1525" "0" "1525" "0" "c.1525T>A" "r.(?)" "p.(Trp509Arg)" "12" "0000454666" "00019407" "55" "1529" "0" "1529" "0" "c.1529G>T" "r.(?)" "p.(Gly510Val)" "12" "0000454667" "00019407" "95" "1529" "0" "1529" "0" "c.1529G>T" "r.(?)" "p.(Gly510Val)" "12" "0000454668" "00019407" "99" "1558" "0" "1558" "0" "c.1558G>T" "r.(?)" "p.(Glu520*)" "12" "0000454669" "00019407" "59" "1564" "0" "1565" "0" "c.1564_1565del" "r.(?)" "p.(Pro522Leufs*4)" "12" "0000454670" "00019407" "55" "1573" "0" "1573" "0" "c.1573A>G" "r.(?)" "p.(Ile525Val)" "12" "0000454671" "00019407" "55" "1573" "0" "1573" "0" "c.1573A>G" "r.(?)" "p.(Ile525Val)" "12" "0000454672" "00019407" "99" "1587" "0" "1587" "0" "c.1587dup" "r.(?)" "p.(His530Thrfs*47)" "12" "0000454673" "00019407" "59" "1588" "0" "1588" "0" "c.1588del" "r.(?)" "p.(His530Thrfs*7)" "12" "0000454674" "00019407" "99" "1588" "0" "1588" "0" "c.1588del" "r.(?)" "p.(His530Thrfs*7)" "12" "0000454675" "00019407" "99" "1588" "0" "1588" "0" "c.1588del" "r.(?)" "p.(His530Thrfs*7)" "12" "0000454676" "00019407" "59" "1596" "0" "1597" "0" "c.1596_1597delinsT" "r.(?)" "p.(Leu533Serfs*4)" "12" "0000454677" "00019407" "59" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Gln534*)" "12" "0000454678" "00019407" "55" "1607" "0" "1607" "0" "c.1607dup" "r.(?)" "p.(Asp537Argfs*40)" "12" "0000454679" "00019407" "55" "1607" "0" "1607" "0" "c.1607dup" "r.(?)" "p.(Asp537Argfs*40)" "12" "0000454680" "00019407" "99" "1608" "0" "1608" "0" "c.1608del" "r.(?)" "p.(Asp537Thrfs*15)" "12" "0000454681" "00019407" "55" "1447" "41" "1447" "41" "c.1447+41G>A" "r.(?)" "p.(?)" "11i" "0000454682" "00019407" "59" "1309" "0" "8234" "0" "c.(1308+1_1309-1)_(*6575_?)del" "r.?" "p.?" "10i_12_" "0000454683" "00019407" "55" "1448" "-33" "1448" "-33" "c.1448-33T>A" "r.(?)" "p.(?)" "11i" "0000454684" "00019407" "59" "430" "0" "431" "0" "c.430_431del" "r.(?)" "p.(Ser144Argfs*7)" "4" "0000454685" "00019407" "59" "430" "0" "431" "0" "c.430_431del" "r.(?)" "p.(Ser144Argfs*7)" "4" "0000454686" "00019407" "59" "-538" "0" "8234" "0" "c.(?_-538)_(*6575_?)del" "r.0" "p.0" "_1_12_" "0000454687" "00019407" "59" "-538" "0" "8234" "0" "c.(?_-538)_(*6575_?)del" "r.0" "p.0" "_1_12_" "0000454688" "00019407" "95" "-538" "0" "1140" "0" "c.(?_-538)_(1139+1_1140-1)del" "r.0?" "p.0?" "_1_9i" "0000454689" "00019407" "55" "189" "0" "197" "0" "c.189_197del" "r.(?)" "p.(Asn64_Ala66del)" "2" "0000454690" "00019407" "55" "189" "0" "197" "0" "c.189_197del" "r.(?)" "p.(Asn64_Ala66del)" "2" "0000454691" "00019407" "99" "263" "0" "267" "0" "c.263_267del" "r.(?)" "p.(Lys88Ilefs*14)" "3" "0000454692" "00019407" "99" "263" "0" "267" "0" "c.263_267del" "r.(?)" "p.(Lys88Ilefs*14)" "3" "0000454693" "00019407" "99" "263" "0" "267" "0" "c.263_267del" "r.(?)" "p.(Lys88Ilefs*14)" "3" "0000454694" "00019407" "99" "263" "0" "267" "0" "c.263_267del" "r.(?)" "p.(Lys88Ilefs*14)" "3" "0000454695" "00019407" "99" "263" "0" "267" "0" "c.263_267del" "r.(?)" "p.(Lys88Ilefs*14)" "3" "0000454696" "00019407" "99" "263" "0" "267" "0" "c.263_267del" "r.(?)" "p.(Lys88Ilefs*14)" "3" "0000454697" "00019407" "59" "375" "0" "381" "0" "c.375_381dup" "r.(?)" "p.(Val128Cysfs*17)" "3" "0000454698" "00019407" "59" "424" "1" "424" "1" "c.424+1G>A" "r.spl" "p.?" "3i" "0000454699" "00019407" "15" "424" "5" "424" "5" "c.424+5G>A" "r.spl?" "p.?" "3i" "0000454700" "00019407" "99" "430" "0" "431" "0" "c.430_431del" "r.(?)" "p.(Ser144Argfs*7)" "4" "0000454701" "00019407" "59" "430" "0" "431" "0" "c.430_431del" "r.(?)" "p.(Ser144Argfs*7)" "4" "0000454702" "00019407" "55" "-127" "-1" "1140" "0" "c.(?_-127-1)_(1139+1_1140-1)del" "r.0?" "p.0?" "_2_9i" "0000454703" "00019407" "59" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000454704" "00019407" "59" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000454705" "00019407" "59" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000454706" "00019407" "59" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000454707" "00019407" "59" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000454708" "00019407" "59" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000454709" "00019407" "59" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000454710" "00019407" "59" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000454711" "00019407" "59" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000454712" "00019407" "55" "554" "0" "554" "0" "c.554C>A" "r.(?)" "p.(Pro185Gln)" "5" "0000454713" "00019407" "59" "608" "0" "608" "0" "c.608del" "r.(?)" "p.(Pro203Hisfs*38)" "5" "0000454714" "00019407" "99" "608" "0" "608" "0" "c.608del" "r.(?)" "p.(Pro203Hisfs*38)" "5" "0000454715" "00019407" "99" "608" "0" "608" "0" "c.608del" "r.(?)" "p.(Pro203Hisfs*38)" "5" "0000454716" "00019407" "99" "608" "0" "608" "0" "c.608del" "r.(?)" "p.(Pro203Hisfs*38)" "5" "0000454717" "00019407" "99" "608" "0" "608" "0" "c.608del" "r.(?)" "p.(Pro203Hisfs*38)" "5" "0000454718" "00019407" "55" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ala226Val)" "6" "0000454719" "00019407" "95" "692" "0" "692" "0" "c.692dup" "r.(?)" "p.(Ser232Glnfs*3)" "6" "0000454720" "00019407" "99" "692" "0" "692" "0" "c.692dup" "r.(?)" "p.(Ser232Glnfs*3)" "6" "0000454721" "00019407" "59" "728" "0" "735" "0" "c.728_735del" "r.(?)" "p.(Gly243Alafs*18)" "6" "0000454722" "00019407" "59" "728" "0" "735" "0" "c.728_735del" "r.(?)" "p.(Gly243Alafs*18)" "6" "0000454723" "00019407" "59" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Gln249*)" "6" "0000454724" "00019407" "59" "746" "0" "747" "0" "c.746_747delinsCC" "r.(?)" "p.(Gln249Pro)" "6" "0000454725" "00019407" "99" "759" "0" "759" "0" "c.759del" "r.(?)" "p.(Phe253Leufs*83)" "6" "0000454726" "00019407" "59" "798" "0" "798" "0" "c.798del" "r.(?)" "p.(Thr267Profs*69)" "7" "0000454727" "00019407" "59" "902" "0" "902" "0" "c.902dup" "r.(?)" "p.(Tyr301*)" "7" "0000454728" "00019407" "59" "939" "0" "939" "0" "c.939del" "r.(?)" "p.(Ile314Phefs*22)" "8" "0000454729" "00019407" "59" "809" "0" "1140" "0" "c.(787+1_830)_(1139+1_1140-1)del" "r.?" "p.?" "6i_9i" "0000454730" "00019407" "55" "970" "0" "970" "0" "c.970T>C" "r.(?)" "p.(Cys324Arg)" "9" "0000454731" "00019407" "55" "970" "0" "970" "0" "c.970T>C" "r.(?)" "p.(Cys324Arg)" "9" "0000454732" "00019407" "59" "971" "0" "971" "0" "c.971del" "r.(?)" 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"p.(Gly386Asp)" "" "0000454904" "00019407" "90" "-17093" "0" "8234" "0" "c.(?_-17093)_(*6575_?)del" "r.0" "p.0" "_1_13_" "0000454905" "00019407" "90" "-17093" "0" "8234" "0" "c.(?_-17093)_(*6575_?)del" "r.0" "p.0" "_1_13_" "0000454906" "00019407" "90" "-17093" "0" "8234" "0" "c.(?_-17093)_(*6575_?)del" "r.0" "p.0" "_1_13_" "0000454907" "00019407" "90" "-17093" "0" "8234" "0" "c.(?_-17093)_(*6575_?)del" "r.0" "p.0" "_1_13_" "0000454908" "00019407" "90" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "8" "0000454909" "00019407" "90" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Arg361His)" "8" "0000454910" "00019407" "90" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Gly386Asp)" "9" "0000454911" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "9" "0000454912" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "9" "0000454913" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "9" "0000454914" "00019407" "90" "1245" "0" "1248" "0" "c.1245_1248del" "r.(?)" "p.(Asp415Glufs*20)" "9" "0000454915" "00019407" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Gln448*)" "10" "0000454916" "00019407" "90" "1544" "0" "1544" "0" "c.1544del" "r.(?)" "p.(Arg515Asnfs*22)" "11" "0000454917" "00019407" "90" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "11" "0000454918" "00019407" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "2" "0000454919" "00019407" "90" "668" "0" "8234" "0" "c.(667+1_668-1)_(*6575_?)del" "r.?" "p.?" "5i_12_" "0000454920" "00019407" "90" "788" "0" "8234" "0" "c.(787+1_788-1)_(*6575_?)del" "r.?" "p.?" "6i_12_" "0000454921" "00019407" "90" "831" "0" "832" "0" "c.831_832del" "r.(?)" "p.(Pro278*)" "6" "0000565042" "00019407" "30" "-127" "-2" "-127" "-2" "c.-127-2A>T" "r.spl?" "p.?" "" "0000565043" "00019407" "30" "-127" "-2" "-127" "0" "c.-127-2_-127del" "r.spl?" "p.?" "" "0000565044" "00019407" "30" "-127" "-1" "-127" "-1" "c.-127-1G>T" "r.spl?" "p.?" "" "0000565045" "00019407" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Thr7=)" "" "0000565046" "00019407" "30" "150" "0" "150" "0" "c.150A>G" "r.(?)" "p.(Lys50=)" "" "0000565047" "00019407" "30" "228" "0" "228" "0" "c.228A>G" "r.(?)" "p.(Arg76=)" "" "0000565048" "00019407" "10" "249" "24" "249" "24" "c.249+24A>G" "r.(=)" "p.(=)" "" "0000565049" "00019407" "30" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Ala118=)" "" "0000565050" "00019407" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Glu134Lys)" "" "0000565051" "00019407" "30" "424" "5" "424" "5" "c.424+5G>A" "r.spl?" "p.?" "" "0000565052" "00019407" "30" "424" "5" "424" "5" "c.424+5G>A" "r.spl?" "p.?" "" "0000565053" "00019407" "10" "454" "54" "454" "54" "c.454+54T>G" "r.(=)" "p.(=)" "" "0000565054" "00019407" "10" "454" "2088" "454" "2088" "c.454+2088G>C" "r.(=)" "p.(=)" "" "0000565055" "00019407" "30" "455" "-8" "455" "-8" "c.455-8C>T" "r.(=)" "p.(=)" "" "0000565056" "00019407" "10" "455" "-6" "455" "-6" "c.455-6A>G" "r.(=)" "p.(=)" "" "0000565057" "00019407" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000565058" "00019407" "30" "667" "12" "667" "12" "c.667+12A>T" "r.(=)" "p.(=)" "" "0000565059" "00019407" "30" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ala226Val)" "" "0000565060" "00019407" "30" "905" "-75" "905" "-75" "c.905-75T>C" "r.(=)" "p.(=)" "" "0000565061" "00019407" "30" "1046" "0" "1046" "0" "c.1046C>T" "r.(?)" "p.(Thr349Ile)" "" "0000565062" "00019407" "10" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(Phe362=)" "" "0000565063" "00019407" "30" "1218" "0" "1218" "0" "c.1218G>A" "r.(?)" "p.(Ala406=)" "" "0000565064" "00019407" "90" "1231" "0" "1232" "0" "c.1231_1232del" "r.(?)" "p.(Ser411LeufsTer17)" "" "0000565065" "00019407" "10" "1308" "60" "1308" "60" "c.1308+60T>C" "r.(=)" "p.(=)" "" "0000565066" "00019407" "30" "1311" "0" "1311" "0" "c.1311C>T" "r.(?)" "p.(Val437=)" "" "0000565067" "00019407" "30" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(Ala464=)" "" "0000565068" "00019407" "90" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "" "0000565069" "00019407" "30" "1632" "0" "1632" "0" "c.1632G>A" "r.(?)" "p.(Pro544=)" "" "0000565070" "00019407" "30" "1647" "0" "1647" "0" "c.1647A>G" "r.(?)" "p.(Gln549=)" "" "0000565071" "00019407" "30" "1671" "0" "1671" "0" "c.*12G>A" "r.(=)" "p.(=)" "" "0000565072" "00019407" "30" "1693" "0" "1693" "0" "c.*34G>A" "r.(=)" "p.(=)" "" "0000593696" "00019407" "70" "153" "0" "153" "0" "c.153dup" "r.(?)" "p.Asp52Argfs*2" "" "0000595895" "00019407" "90" "-358" "0" "8234" "0" "c.-358_*6575del" "r.0" "p.0" "_1_12_" "0000595896" "00019407" "90" "455" "0" "8234" "0" "c.(454+1_455-1)_*6575del" "r.(?)" "p.(?)" "4i_12_" "0000595897" "00019407" "90" "-1" "0" "1140" "0" "c.(?_-1)_(1139+1_1140-1)del" "r.?" "p.?" "_2_9i" "0000595898" "00019407" "90" "-1" "0" "1140" "0" "c.(?_-1)_(1139+1_1140-1)del" "r.?" "p.?" "_2_9i" "0000595899" "00019407" "90" "1448" "0" "8234" "0" "c.(1447+1_1448-1)_*6575del" "r.(?)" "p.(?)" "11i_12_" "0000595900" "00019407" "90" "1309" "0" "8234" "0" "c.(1308+1_1309-1)_*6575del" "r.(?)" "p.(?)" "10i_12_" "0000595901" "00019407" "90" "1140" "0" "8234" "0" "c.(1139+1_1140-1)_*6575del" "r.(?)" "p.(?)" "9i_12_" "0000595902" "00019407" "90" "1309" "0" "8234" "0" "c.(1308+1_1309-1)_*6575del" "r.(?)" "p.(?)" "10i_12_" "0000595903" "00019407" "90" "1309" "0" "1448" "0" "c.(1308+1_1309-1)_(1447+1_1448-1)del" "r.(?)" "p.(?)" "10i_11i" "0000595904" "00019407" "90" "1309" "0" "1448" "0" "c.(1308+1_1309-1)_(1447+1_1448-1)del" "r.(?)" "p.(?)" "10i_11i" "0000595905" "00019407" "90" "1309" "0" "1448" "0" "c.(1308+1_1309-1)_(1447+1_1448-1)del" "r.(?)" "p.(?)" "10i_11i" "0000595906" "00019407" "90" "-1" "0" "425" "0" "c.(?_-1)_(424+1_425-1)del" "r.?" "p.?" "_2_3i" "0000595907" "00019407" "99" "692" "0" "692" "0" "c.692dup" "r.(?)" "p.(Ser232Glnfs*3)" "6" "0000595908" "00019407" "99" "692" "0" "692" "0" "c.692dup" "r.(?)" "p.(Ser232Glnfs*3)" "6" "0000595909" "00019407" "99" "576" "0" "576" "0" "c.576dup" "r.(?)" "p.(Glu193Argfs*13)" "5" "0000595910" "00019407" "99" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000595911" "00019407" "99" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Ile182Serfs*20)" "5" "0000595912" "00019407" "55" "543" "0" "543" "0" "c.543C>G" "r.(?)" "p.(=)" "5" "0000595913" "00019407" "99" "533" "0" "533" "0" "c.533C>G" "r.(?)" "p.(Ser178*)" "5" "0000595914" "00019407" "99" "533" "0" "533" "0" "c.533C>G" "r.(?)" "p.(Ser178*)" "5" "0000595915" "00019407" "99" "533" "0" "533" "0" "c.533C>G" "r.(?)" "p.(Ser178*)" "5" "0000595916" "00019407" "99" "517" "0" "527" "0" "c.517_527del" "r.(?)" "p.(Ser173Thrfs*12)" "5" "0000595917" "00019407" "99" "517" "0" "527" "0" "c.517_527del" "r.(?)" "p.(Ser173Thrfs*12)" "5" "0000595918" "00019407" "99" "517" "0" "527" "0" "c.517_527del" "r.(?)" "p.(Ser173Thrfs*12)" "5" "0000595919" "00019407" "99" "517" "0" "527" "0" "c.517_527del" "r.(?)" "p.(Ser173Thrfs*12)" "5" "0000595920" "00019407" "99" "517" "0" "527" "0" "c.517_527del" "r.(?)" "p.(Ser173Thrfs*12)" "5" "0000595921" "00019407" "99" "517" "0" "527" "0" "c.517_527del" "r.(?)" "p.(Ser173Thrfs*12)" "5" "0000595922" "00019407" "99" "517" "0" "527" "0" "c.517_527del" "r.(?)" "p.(Ser173Thrfs*12)" "5" "0000595923" "00019407" "99" "437" "0" "437" "0" "c.437T>A" "r.(?)" "p.(Leu146*)" "4" "0000595924" "00019407" "99" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "3" "0000595925" "00019407" "99" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "3" "0000595926" "00019407" "99" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "3" "0000595927" "00019407" "55" "380" "0" "380" "0" "c.380G>T" "r.(?)" "p.(Cys127Phe)" "3" "0000595928" "00019407" "99" "260" "0" "261" "0" "c.260_261del" "r.(?)" "p.(Arg87Glnfs*16)" "3" "0000595929" "00019407" "99" "260" "0" "261" "0" "c.260_261del" "r.(?)" "p.(Arg87Glnfs*16)" "3" "0000595930" "00019407" "99" "260" "0" "261" "0" "c.260_261del" "r.(?)" "p.(Arg87Glnfs*16)" "3" "0000595931" "00019407" "99" "260" "0" "261" "0" "c.260_261del" "r.(?)" "p.(Arg87Glnfs*16)" "3" "0000595932" "00019407" "55" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Thr7Met)" "2" "0000595933" "00019407" "55" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Thr7Met)" "2" "0000595934" "00019407" "90" "-358" "0" "8234" "0" "c.-358_*6575del" "r.0" "p.0" "_1_12_" "0000595935" "00019407" "90" "-358" "0" "8234" "0" "c.-358_*6575del" "r.0" "p.0" "_1_12_" "0000595936" "00019407" "90" "-358" "0" "8234" "0" "c.-358_*6575del" "r.0" "p.0" "_1_12_" "0000595937" "00019407" "99" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "12" "0000595938" "00019407" "99" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "12" "0000595939" "00019407" "99" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "12" "0000595940" "00019407" "99" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "12" "0000595941" "00019407" "99" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "12" "0000595942" "00019407" "99" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "12" "0000595943" "00019407" "99" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "12" "0000595944" "00019407" "99" "1547" "0" "1550" "0" "c.1547_1550dup" "r.(?)" "p.(Ser517Argfs*11)" "12" "0000595945" "00019407" "99" "1440" "0" "1440" "0" "c.1440del" "r.(?)" "p.(Ala481Leufs*23)" "11" "0000595946" "00019407" "99" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Ser474*)" "11" "0000595947" "00019407" "99" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Ser474*)" "11" "0000595948" "00019407" "99" "1351" "0" "1375" "0" "c.1351_1375dup" "r.(?)" "p.(Ala459Glyfs*43)" "11" "0000595949" "00019407" "99" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Gln446*)" "11" "0000595950" "00019407" "99" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "10" "0000595951" "00019407" "99" "1311" "0" "1311" "0" "c.1311dup" "r.(?)" "p.(Phe438Leufs*2)" "11" "0000595952" "00019407" "99" "1311" "0" "1311" "0" "c.1311dup" "r.(?)" "p.(Phe438Leufs*2)" "11" "0000595953" "00019407" "99" "1311" "0" "1311" "0" "c.1311dup" "r.(?)" 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