### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BMPR1A) # 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}}" "BMPR1A" "bone morphogenetic protein receptor, type IA" "10" "q22.3" "unknown" "LRG_298" "UD_132118348556" "" "https://www.LOVD.nl/BMPR1A" "" "1" "1076" "657" "601299" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/BMPR1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-26 13:32:39" "00000" "2022-05-09 15:51:19" ## 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}}" "00003435" "BMPR1A" "bone morphogenetic protein receptor, type IA" "001" "NM_004329.2" "" "NP_004320.2" "" "" "" "-548" "3068" "1599" "88516396" "88684945" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00469" "HPS" "Hermansky-Pudlak syndrome" "" "" "" "" "" "00006" "2014-07-23 09:19:23" "00006" "2022-01-25 17:51:50" "01420" "BRRS" "Bannayan-Riley-Ruvalcaba syndrome (BRRS)" "" "153480" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-02-15 23:25:54" "01515" "JPS" "polyposis syndrome, juvenile (JPS)" "AD" "174900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02897" "HMPS2" "polyposis syndrome, hereditary mixed, type 2 (HMPS-2)" "" "610069" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04204" "ASD" "septal defect, atrial (ASD)" "" "" "" "" "" "00006" "2015-02-20 21:20:25" "00006" "2015-12-08 23:53:05" "04280" "FAP" "adenomatous polyposis, familial (FAP)" "" "" "" "" "" "00006" "2015-06-06 23:26:41" "" "" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05464" "HNPCC" "cancer, colorectal, nonpolyposis, hereditary (HNPCC, Lynch syndrome)" "" "" "" "" "" "00006" "2018-08-02 08:56:34" "" "" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BMPR1A" "01515" "BMPR1A" "02897" ## Individuals ## Do not remove or alter this header ## ## Count = 342 "{{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}}" 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2002:12136244}" "" "" "" "Germany" "" "0" "" "" "" "12136244-JUV-39" "00050008" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat64" "00050009" "" "" "" "1" "" "00004" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP72-1" "00050010" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP24" "00050011" "" "" "" "1" "" "00004" "{PMID:Kim 2003:12630959}, {DOI:Kim 2003:10.1034./j.1399-0004.2003.00008.x}" "" "" "" "Korea" "" "0" "" "" "(Asian)" "SNU-JP1" "00050012" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "" "" "(United States)" "" "0" "" "" "European" "1469" "00050013" "" "" "" "1" "" "00004" "{PMID:Friedl 2002:12136244}" "" "" "" "Germany" "" "0" "" "" "" "12136244-JUV-28" "00050014" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "(European)" "5418" "00050015" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP52" "00050016" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat45" "00050017" "" "" "" "1" "" "00004" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP74-1" "00050018" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "(American)" "case 6" "00050019" "" "" "" "1" "" "00004" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP154-1" "00050020" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP19" "00050021" "" "" "" "8" "" "00004" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "E1" "00050022" "" "" "" "1" "" "00004" "{PMID:Friedl 2002:12136244}" "" "" "" "Germany" "" "0" "" "" "" "12136244-JUV-27" "00050023" "" "" "" "1" "" "00004" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2008:10.1136/gut.2007.142927}" "" "" "" "(Netherlands)" "" "0" "" "" "(European)" "20" "00050024" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "F" "" "(United States)" "" "0" "" "" "European" "309-1" "00050025" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "(European)" "341" "00050026" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "(American)" "case 7" "00050027" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "" "" "(United States)" "" "0" "" "" "European" "18" "00050028" "" "" "" "1" "" "00004" "{PMID:Friedl 2002:12136244}" "" "" "" "Germany" "" "0" "" "" "" "12136244-JUV-17" "00050029" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "" "" "(United States)" "" "0" "" "" "European" "19" "00050030" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "" "" "(United States)" "" "0" "" "" "European" "10" "00050031" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP61" "00050032" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP59" "00050033" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "" "" "(United States)" "" "0" "" "" "European" "JP7/19" "00050034" "" "" "" "5" "" "00004" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "B2" "00050035" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat59" "00050036" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "" "" "(United States)" "" "0" "" "" "European" "JP8/1" "00050037" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "" "" "(United States)" "" "0" "" "" "European" "SM316" "00050038" "" "" "" "1" "" "00004" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "" "" "(United States)" "" "0" "" "" "(American)" "Group 2/G" "00050039" "" "" "" "1" "" "00004" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "" "" "(United States)" "" "0" "" "" "(American)" "Group 2/F" "00050040" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "(American)" "case 3" "00050041" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "(European)" "12" "00050042" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat70" "00050043" "" "" "" "1" "" "00004" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2008:10.1136/gut.2007.142927}" "" "" "" "(Netherlands)" "" "0" "" "" "(European)" "21" "00050044" "" "" "" "4" "" "00004" "{PMID:Howe 2008:18262054}, {DOI:Howe 2008:10.1016/j.cancergencyto.2007.11.001}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "II-2" "00050045" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "(American)" "case 5" "00050046" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP12" "00050047" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "" "" "00050048" "" "" "" "1" "" "00004" "{PMID:Aretz 2007:17873119}" "" "" "" "Germany" "" "0" "" "" "" "17873119-Pat79" "00050049" "" "" "" "1" "" "00004" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP85-1" "00050050" "" "" "" "1" "" "00004" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP25-1" "00050051" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP60" "00050052" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "(American)" "case 8" "00050053" "" "" "" "5" "" "00004" "{PMID:Cao 2006:16525031}, {DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "F" "" "Singapore" "" "0" "" "" "(Asian)" "Fam2Pat2" "00050054" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "(European)" "98" "00050055" "" "" "" "1" "" "00004" "{PMID:Friedl 2002:12136244}" "" "" "" "Germany" "" "0" "" "" "" "12136244-JUV-41" "00050056" "" "" "" "1" "" "00004" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP53-1" "00050057" "" "" "" "5" "" "00004" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "S5" "00050058" "" "" "" "1" "" "00004" "{PMID:Lipton 2003:12676908}, {DOI:Lipton 2003:10.1136/jmg. 40.4.e35}" "" "" "" "" "" "0" "" "" "(European)" "DI" "00050059" "" "" "" "8" "" "00004" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "D2" "00050060" "" "" "" "1" "" "00004" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP7" "00050061" "" "" "" "14" "" "00004" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "M" "" "(Finland)" "" "0" "" "" "(European)" "III:2" "00050062" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "" "" "(United States)" "" "0" "" "" "European" "16" "00050063" "" "" "" "1" "" "00004" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "" "(France)" "" "0" "" "" "(European)" "2384" "00050064" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "(American)" "case 1" "00050065" "" "" "" "1" "" "00004" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "" "(United States)" "" "0" "" "" "(American)" "JP155-1" "00050066" "" "" "" "1" "" "00004" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "" "(United States)" "" "0" "" "" "(American)" "case 2" "00050067" "" "" "" "1" "" "00004" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "" "" "(United States)" "" "0" "" "" "European" "FT" "00090455" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090456" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090457" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090459" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090460" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090461" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00155013" "" "" "" "1" "" "01693" "" "" "F" "-" "Australia;(Australia)" ">79y" "0" "" "" "" "" "00164997" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00183531" "" "" "" "1" "" 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2016:10.1080/00365521.2016.1174880}" "" "" "" "(Denmark)" "" "0" "" "" "(European)" "patient" "00218608" "" "" "" "1" "" "00645" "{DOI:Kurland 2007:10.1097/MPG.0b013e31802e98e5}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "proband" "00218609" "" "" "" "1" "" "00645" "{DOI:Kurland 2007:10.1097/MPG.0b013e31802e98e5}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "mother" "00218610" "" "" "" "1" "" "00645" "{DOI:Kurland 2007:10.1097/MPG.0b013e31802e98e5}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "brother" "00218611" "" "" "" "1" "" "00645" "{DOI:Kurland 2007:10.1097/MPG.0b013e31802e98e5}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "maternal uncle" "00218612" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "IV-1" "00218613" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "III-4" "00218614" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "III-5" "00218615" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "III-6" "00218616" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "II-1" "00218617" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "II-3" "00218618" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "II-5" "00218619" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "II-6" "00218620" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "II-8" "00218621" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "I-1" "00218622" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "IV-4" "00218623" "" "" "" "1" "" "00645" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "III-3" "00218624" "" "" "" "1" "" "00645" "{DOI:Menko 2008:10.1111/j.1399-0004.2008.01026.x}" "" "M" "" "" "" "0" "" "" "maroccan" "case 1" "00218625" "" "" "" "1" "" "00645" "{DOI:Menko 2008:10.1111/j.1399-0004.2008.01026.x}" "" "M" "" "" "" "0" "" "" "turkish iranian" "case 2" "00218626" "" "" "" "1" "" "00645" "{DOI:Menko 2008:10.1111/j.1399-0004.2008.01026.x}" "" "F" "" "Belgium" "" "0" "" "" "European" "case 3" "00218627" "" "" "" "1" "" "00645" "{DOI:Menko 2008:10.1111/j.1399-0004.2008.01026.x}" "" "M" "" "" "" "0" "" "" "" "case 4" "00218628" "" "" "" "1" "" "00645" "{DOI:Mongin 2012:10.1111/j.1399-0004.2011.01676.x}" "" "" "" "(France)" "" "0" "" "" "(European)" "patient" "00218629" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "5656" "00218630" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "5659" "00218631" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "4213" "00218632" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "2395" "00218633" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "8246" "00218634" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "6386" "00218635" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "1618" "00218636" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "6771" "00218637" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "1613" "00218638" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "5691" "00218639" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "2858" "00218640" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "2859" "00218641" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "8252" "00218642" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "7811" "00218643" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "6520" "00218644" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "5414" "00218645" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "1676" "00218646" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "8228" "00218647" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "6379" "00218648" "" "" "" "1" "" "00645" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "" "(United States)" "" "0" "" "" "(American)" "5062" "00218649" "" "" "" "1" "" "00645" "{DOI:Pearlman 2016:10.1001/jamaoncol.2016.5194}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "435548" "00218650" "" "" "" "1" "" "00645" "{DOI:Pearlman 2016:10.1001/jamaoncol.2016.5194}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "450705" "00218651" "" "" "" "1" "" "00645" "{DOI:Pearlman 2016:10.1001/jamaoncol.2016.5194}" "" "F" "" "(United States)" "" "0" "" "" "(American)" "407850" "00218652" "" "" "" "1" "" "00645" "{DOI:Salviati 2006:10.1086/507151}" "" "F" "" "(Italy)" "" "0" "" "" "(European)" "patient" "00218653" "" "" "" "1" "" "00645" "{DOI:Septer 2013:10.3748/wjg.v19.i14.2286}" "" "M" "" "(United States)" "" "0" "" "" "(American)" "patient" "00218654" "" "" "" "1" "" "00645" "{DOI:Tsuchiya 1998:10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3}" "" "M" "" "(United States)" "" "0" "" "" "african-American" "patient" "00218655" "" "" "" "1" "" "00645" "{DOI:Yamaguchi 2014:10.1093/jjco/hyu111}" "" "M" "" "Japan" "" "0" "" "" "(Asian)" "IV-2" "00218934" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat49" "00218935" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat38" "00218936" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat22" "00218937" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat17" "00218938" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat68" "00218939" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat28" "00218940" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat48" "00218941" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat39" "00218942" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat27" "00218943" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat41" "00218944" "" "" "" "1" "" "00006" "{PMID:Aretz 2007:17873119}" "" "" "" "" "" "0" "" "" "Germany" "17873119-Pat26" "00248432" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00264000" "" "" "" "1" "" "00727" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00290164" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295907" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00316078" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K100" "00395400" "" "" "00204350" "1" "" "00006" "{PMID:Joziasse 2011:21248739}" "father" "M" "" "Netherlands" "" "0" "" "" "" "FamPatII1" "00406888" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "F" "" "China" "" "0" "" "" "" "312556" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 336 "{{individualid}}" "{{diseaseid}}" "00022288" "00091" "00034853" "00198" "00050005" "01515" "00050006" "02897" "00050007" "01515" "00050008" "01515" "00050009" "01515" "00050010" "01515" "00050011" "01515" "00050012" "01515" "00050013" "01515" "00050014" "01515" "00050015" "01515" "00050016" "01515" "00050017" "01515" "00050018" "01515" "00050019" "01515" "00050020" "01515" "00050021" "01515" "00050022" "01515" "00050023" "01515" "00050024" "01420" "00050025" "01515" "00050026" "01515" "00050027" "01515" "00050028" "01515" "00050029" "01515" "00050030" "01515" "00050031" "01515" "00050032" "01515" "00050033" "01515" "00050034" "01515" "00050035" "01515" "00050036" "01515" "00050037" "01515" "00050038" "01515" "00050039" "01515" "00050040" "01515" "00050041" "01515" "00050042" "01515" "00050043" "01515" "00050044" "01515" "00050045" "01515" "00050046" "01515" "00050047" "01515" "00050048" "01515" "00050049" "01515" "00050050" "01515" "00050051" "01515" "00050052" "01515" "00050053" "02897" "00050054" "01515" "00050055" "01515" "00050056" "01515" "00050057" "01515" "00050058" "00198" "00050059" "01515" "00050060" "01515" "00050061" "05464" "00050062" "01515" "00050063" "01515" "00050064" "01515" "00050065" "01515" "00050066" "01515" "00050067" "01515" "00090455" "00091" "00090456" "00091" "00090457" "00000" "00090459" "00091" "00090460" "00091" "00090461" "00091" "00155013" "00091" "00164997" "00091" "00183531" "00198" "00183532" "04280" "00183533" "00091" "00183534" "01515" "00183535" "01515" "00183536" "01515" "00183537" "01515" "00204350" "04204" "00218418" "01515" "00218419" "01515" "00218420" "01515" "00218421" "01515" "00218422" "01515" "00218423" "01515" "00218424" "01515" "00218425" "01515" "00218426" "01515" "00218427" "01515" "00218428" "01515" "00218429" "01515" "00218430" 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"00218588" "01515" "00218589" "02897" "00218590" "02897" "00218591" "02897" "00218592" "02897" "00218593" "02897" "00218594" "02897" "00218595" "02897" "00218596" "01515" "00218597" "01515" "00218598" "01420" "00218599" "01515" "00218600" "01515" "00218601" "01420" "00218602" "01515" "00218603" "01515" "00218604" "01515" "00218605" "01515" "00218606" "00469" "00218607" "00469" "00218608" "01515" "00218609" "01515" "00218610" "01515" "00218611" "01515" "00218612" "01515" "00218613" "01515" "00218614" "01515" "00218615" "01515" "00218616" "01515" "00218617" "01515" "00218618" "01515" "00218619" "01515" "00218620" "01515" "00218621" "01515" "00218622" "01515" "00218623" "01515" "00218624" "01515" "00218625" "01515" "00218626" "01515" "00218627" "01515" "00218628" "01515" "00218629" "00198" "00218630" "01515" "00218631" "01515" "00218632" "01515" "00218633" "01515" "00218634" "01515" "00218635" "01515" "00218636" "01515" "00218637" "01515" "00218638" "01515" "00218639" "01515" "00218640" "01515" "00218641" "01515" "00218642" "01515" "00218643" "01515" "00218644" "01515" "00218645" "01515" "00218646" "01515" "00218647" "01515" "00218648" "01515" "00218649" "00091" "00218650" "00091" "00218651" "00091" "00218652" "01515" "00218653" "01515" "00218654" "00198" "00218655" "01515" "00218934" "01515" "00218935" "01515" "00218936" "01515" "00218937" "01515" "00218938" "01515" "00218939" "01515" "00218940" "01515" "00218941" "01515" "00218942" "01515" "00218943" "01515" "00218944" "01515" "00264000" "04296" "00290164" "00198" "00295907" "00198" "00316078" "05342" "00395400" "00000" "00406888" "05489" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00469, 01420, 01515, 02897, 04204, 04280, 04296, 05342, 05464, 05489 ## Count = 328 "{{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}}" "0000020183" "00091" "00022288" "00126" "Unknown" "" "rectal neuroendocrine tumour, 34 years, colorectal adenomas." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127737" "00091" "00155013" "01693" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144235" "00198" "00183531" "02940" "Unknown" "" "MSI; MMR-deficient tumours" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144236" "04280" "00183532" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144237" "00091" "00183533" "02940" "Unknown" "" "<41y CRC without suggestive familial history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144238" "01515" "00183534" "02940" "Unknown" "" "Juvenile polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144239" "01515" "00183535" "02940" "Unknown" "" "Juvenile polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144240" "01515" "00183536" "02940" "Unknown" "" "Juvenile polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144241" "01515" "00183537" "02940" "Unknown" "" "Juvenile polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155993" "00198" "00034853" "01164" "Unknown" "" "juvenile Parkinson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "Parkinson syndrome" "" "0000166834" "01515" "00050005" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166835" "02897" "00050006" "00008" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166836" "01515" "00050009" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166837" "01515" "00050010" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166838" "01515" "00050011" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166839" "01515" "00050012" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166840" "01515" "00050014" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166841" "01515" "00050015" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166842" "01515" "00050017" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166843" "01515" "00050018" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166844" "01515" "00050019" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166845" "01515" "00050020" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166846" "01515" "00050021" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166847" "01515" "00050023" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166848" "01420" "00050024" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166849" "01515" "00050025" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166850" "01515" "00050026" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166851" "01515" "00050027" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166852" "01515" "00050029" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166853" "01515" "00050030" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166854" "01515" "00050031" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166855" "01515" "00050032" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166856" "01515" "00050033" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166857" "01515" "00050034" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166858" "01515" "00050036" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166859" "01515" "00050037" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166860" "01515" "00050038" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166861" "01515" "00050039" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166862" "01515" "00050040" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166863" "01515" "00050041" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166864" "01515" "00050043" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166865" "01515" "00050044" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166866" "01515" "00050045" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166867" "01515" "00050046" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166868" "01515" "00050047" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166869" "01515" "00050049" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166870" "01515" "00050050" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166871" "01515" "00050051" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166872" "01515" "00050052" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166873" "02897" "00050053" "00008" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166874" "01515" "00050054" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166875" "01515" "00050056" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166876" "01515" "00050057" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166877" "00198" "00050058" "00008" "Unknown" "" "multiple adenoma phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166878" "01515" "00050059" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166879" "01515" "00050060" "00008" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166880" "05464" "00050061" "00008" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166881" "01515" "00050062" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166882" "01515" "00050063" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166883" "01515" "00050064" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166884" "01515" "00050065" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166885" "01515" "00050066" "00008" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166886" "01515" "00050067" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166900" "01515" "00218418" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166901" "01515" "00218419" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166902" "01515" "00218420" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166903" "01515" "00218421" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166904" "01515" "00218422" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166905" "01515" "00218423" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166906" "01515" "00218424" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166907" "01515" "00218425" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166908" "01515" "00218426" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166909" "01515" "00218427" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166910" "01515" "00218428" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166911" "01515" "00218429" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166912" "01515" "00218430" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166913" "01515" "00218431" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166914" "01515" "00218432" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166915" "01515" "00218433" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166916" "01515" "00218434" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166917" "01515" "00218435" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166918" "01515" "00218436" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166919" "01515" "00218437" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166920" "01515" "00218438" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166921" "01515" "00218439" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166922" "01515" "00218440" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166923" "01515" "00218441" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166924" "01515" "00218442" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166925" "01515" "00218443" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166926" "01515" "00218444" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166927" "01515" "00218445" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166928" "01515" "00218446" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166929" "01515" "00218447" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166930" "01515" "00218448" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166931" "01515" "00218449" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166932" "01515" "00218450" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166933" "01515" "00218451" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166934" "01515" "00218452" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166935" "01515" "00218453" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166936" "01515" "00218454" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166937" "01515" "00218455" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166938" "01515" "00218456" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166939" "01515" "00218457" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166940" "01515" "00218458" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166941" "01515" "00218459" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166942" "01515" "00218460" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166943" "01515" "00218461" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166944" "01515" "00218462" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166945" "01515" "00218463" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166946" "02897" "00218464" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166947" "02897" "00218465" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166948" "02897" "00218466" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166949" "02897" "00218467" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166950" "02897" "00218468" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166951" "02897" "00218469" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166952" "02897" "00218470" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166953" "02897" "00218471" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166954" "02897" "00218472" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166955" "02897" "00218473" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166956" "02897" "00218474" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166957" "02897" "00218475" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166958" "02897" "00218476" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166959" "02897" "00218477" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166960" "01515" "00218478" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166961" "01515" "00218479" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166962" "01515" "00218480" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166963" "01515" "00218481" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166964" "01515" "00218482" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166965" "01515" "00218483" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166966" "01515" "00218484" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166967" "01515" "00218485" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166968" "01515" "00218486" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166969" "01515" "00218487" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166970" "01515" "00218488" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166971" "01515" "00218489" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166972" "01515" "00218490" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166973" "01515" "00218491" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166974" "01515" "00218492" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166975" "01515" "00218493" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166976" "01515" "00218494" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166977" "01515" "00218495" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166978" "01515" "00218496" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166979" "01515" "00218497" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166980" "01515" "00218498" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166981" "01515" "00218499" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166982" "01515" "00218500" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166983" "01515" "00218501" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166984" "01515" "00218502" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166985" "01515" "00218503" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166986" "01515" "00218504" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166987" "01515" "00218505" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166988" "01515" "00218506" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166989" "01515" "00218507" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166990" "01515" "00218508" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166991" "01515" "00218509" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166992" "01515" "00218510" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166993" "01515" "00218511" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166994" "01515" "00218512" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166995" "01515" "00218513" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166996" "01515" "00218514" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166997" "01515" "00218515" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166998" "01515" "00218516" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166999" "01515" "00218517" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167000" "01515" "00218518" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167001" "01515" "00218519" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167002" "01515" "00218520" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167003" "01515" "00218521" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167004" "01515" "00218522" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167005" "01515" "00218523" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167006" "01515" "00218524" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167007" "01515" "00218525" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167008" "01515" "00218526" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167009" "01515" "00218527" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167010" "01515" "00218528" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167011" "01515" "00218529" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167012" "01515" "00218530" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167013" "01515" "00218531" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167014" "01515" "00218532" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167015" "01515" "00218533" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167016" "01515" "00218534" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167017" "01515" "00218535" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167018" "01515" "00218536" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167019" "01515" "00218537" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167020" "01515" "00218538" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167021" "01515" "00218539" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167022" "01515" "00218540" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167023" "05464" "00218541" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167024" "05464" "00218542" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167025" "05464" "00218543" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167026" "05464" "00218544" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167027" "05464" "00218545" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167028" "05464" "00218546" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167029" "05464" "00218547" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167030" "05464" "00218548" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167031" "05464" "00218549" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167032" "05464" "00218550" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167033" "05464" "00218551" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167034" "05464" "00218552" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167035" "05464" "00218553" "00645" "Unknown" "" "FCCX" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167036" "05464" "00218554" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167037" "02897" "00218555" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167038" "02897" "00218556" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167039" "02897" "00218557" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167040" "02897" "00218558" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167041" "02897" "00218559" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167042" "02897" "00218560" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167043" "02897" "00218561" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167044" "01515" "00218562" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167045" "01515" "00218563" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167046" "01515" "00218564" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167047" "01515" "00218565" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167048" "01515" "00218566" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167049" "01515" "00218567" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167050" "01515" "00218568" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167051" "01515" "00218569" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167052" "01515" "00218570" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167053" "01515" "00218571" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167054" "01515" "00218572" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167055" "01515" "00218573" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167056" "01515" "00218574" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167057" "01515" "00218575" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167058" "01515" "00218576" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167059" "01515" "00218577" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167060" "01515" "00218578" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167061" "01515" "00218579" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167062" "01515" "00218580" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167063" "01515" "00218581" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167064" "01515" "00218582" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167065" "01515" "00218583" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167066" "01515" "00218584" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167067" "01515" "00218585" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167068" "01515" "00218586" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167069" "01515" "00218587" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167070" "01515" "00218588" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167071" "02897" "00218589" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167072" "02897" "00218590" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167073" "02897" "00218591" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167074" "02897" "00218592" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167075" "02897" "00218593" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167076" "02897" "00218594" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167077" "02897" "00218595" "00645" "Unknown" "" "HMPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167078" "01515" "00218596" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167079" "01515" "00218597" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167080" "01420" "00218598" "00645" "Unknown" "" "BRRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167081" "01515" "00218599" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167082" "01515" "00218600" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167083" "01420" "00218601" "00645" "Unknown" "" "BRRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167084" "01515" "00218602" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167085" "01515" "00218603" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167086" "01515" "00218604" "00645" "Unknown" "" "JPS, CD, BRRS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167087" "01515" "00218605" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167088" "00469" "00218606" "00645" "Unknown" "" "HPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167089" "00469" "00218607" "00645" "Unknown" "" "HPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167090" "01515" "00218608" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167091" "01515" "00218609" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167092" "01515" "00218610" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167093" "01515" "00218611" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167094" "01515" "00218612" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167095" "01515" "00218613" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167096" "01515" "00218614" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167097" "01515" "00218615" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167098" "01515" "00218616" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167099" "01515" "00218617" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167100" "01515" "00218618" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167101" "01515" "00218619" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167102" "01515" "00218620" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167103" "01515" "00218621" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167104" "01515" "00218622" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167105" "01515" "00218623" "00645" "Unknown" "" "FJP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167106" "01515" "00218624" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167107" "01515" "00218625" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167108" "01515" "00218626" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167109" "01515" "00218627" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167110" "01515" "00218628" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167111" "00198" "00218629" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167112" "01515" "00218630" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167113" "01515" "00218631" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167114" "01515" "00218632" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167115" "01515" "00218633" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167116" "01515" "00218634" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167117" "01515" "00218635" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167118" "01515" "00218636" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167119" "01515" "00218637" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167120" "01515" "00218638" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167121" "01515" "00218639" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167122" "01515" "00218640" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167123" "01515" "00218641" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167124" "01515" "00218642" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167125" "01515" "00218643" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167126" "01515" "00218644" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167127" "01515" "00218645" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167128" "01515" "00218646" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167129" "01515" "00218647" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167130" "01515" "00218648" "00645" "Unknown" "" "moderate load colorectal polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167131" "00091" "00218649" "00645" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167132" "00091" "00218650" "00645" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167133" "00091" "00218651" "00645" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167134" "01515" "00218652" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167135" "01515" "00218653" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167136" "00198" "00218654" "00645" "Unknown" "" "GJP, CD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167137" "01515" "00218655" "00645" "Unknown" "" "JPS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000167479" "01515" "00050007" "00006" "Familial" "25y" "31y-two gastric polyps" "" "46y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167480" "01515" "00050013" "00006" "Unknown" "54y" "52y-gastroscopy because of duodenal ulcer, no gastric polyposis" "" "35y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167481" "01515" "00050022" "00006" "Familial" "21y" "ventricular or atrial septal defect (congenital heart disease); gastric polyposis not examined" "" "18y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167482" "01515" "00050028" "00006" "Familial" "08y" "gastric polyposis not examined" "" "06y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167483" "01515" "00050055" "00006" "Unknown" "06y" "gastric polyposis not examined" "" "05y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167493" "01515" "00050008" "00006" "Familial" "25y" "see paper; ..." "" "17y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167494" "01515" "00050016" "00006" "Unknown" "16y" "see paper; ..." "" "14y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167495" "01515" "00050035" "00006" "Unknown" "53y" "see paper; ..." "" "43y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167496" "01515" "00050042" "00006" "Isolated (sporadic)" "15y" "see paper; ..." "" "01y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167497" "01515" "00050048" "00006" "Unknown" "28y" "see paper; ..." "" "20y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167498" "01515" "00218934" "00006" "Familial" "30y" "see paper; …" "" "14y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167499" "01515" "00218935" "00006" "Familial" "9y" "see paper; …" "" "2y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167500" "01515" "00218936" "00006" "Familial" "20y" "see paper; …" "" "8y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167501" "01515" "00218937" "00006" "Familial" "8y" "see paper; …" "" "6y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167502" "01515" "00218938" "00006" "Familial" "16y" "see paper; …" "" "13y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167503" "01515" "00218939" "00006" "Familial" "52y" "see paper; …" "" "35y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167504" "01515" "00218940" "00006" "Familial" "9y" "see paper; …" "" "8y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167505" "01515" "00218941" "00006" "Familial" "46y" "see paper; …" "" "25y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167506" "01515" "00218942" "00006" "Familial" "20y" "see paper; …" "" "18y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167507" "01515" "00218943" "00006" "Familial" "13y" "see paper; …" "" "5y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000167508" "01515" "00218944" "00006" "Familial" "" "see paper; …" "" "3y" "" "" "" "" "" "" "" "" "" "JPS" "" "" "0000187423" "00198" "00248432" "01164" "Unknown" "" "HP:0000365 (Hearing impairment); HP:0012126 (Stomach cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201858" "04296" "00264000" "00727" "Unknown" "" "Colorectal carcinoma, 50y; Breast cancer, 57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223383" "00198" "00295907" "01164" "Unknown" "" "EMG: myotonic discharges (HP:0100284); Abnormality of the musculature of the pelvis (HP:0001469); EMG abnormality (HP:0003457); Motor axonal neuropathy (HP:0007002); Peripheral neuropathy (HP:0009830)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239825" "05342" "00316078" "00006" "Unknown" "" "renal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "" "renal dysplasia" "" "0000288600" "04204" "00204350" "00006" "Unknown" "" "Down syndrome, congenital heart defect; unaffected carrier father" "" "" "" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000299337" "05489" "00406888" "00006" "Unknown" "26y" "colon cancer (sigmoid), stage II); mismatch repair status proficient; duodenum polyps; no family history" "" "" "" "" "" "" "" "" "" "" "" "" "colorectal cancer" "" ## Screenings ## Do not remove or alter this header ## ## Count = 342 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000022286" "00022288" "1" "00126" "00126" "2014-10-07 22:32:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000034918" "00034848" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034919" "00034849" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034920" "00034850" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034921" "00034851" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034922" "00034852" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034923" "00034853" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000049925" "00050005" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "PCR;SEQ" "DNA" "" "screening" "0000049926" "00050006" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "PCR;SEQ" "DNA" "" "screening" "0000049927" "00050007" "1" "00004" "00008" "2015-09-16 16:41:54" "" "" "SEQ" "DNA" "" "" "0000049928" "00050008" "1" "00004" "00008" "2015-09-16 16:41:54" "" "" "SEQ" "DNA" "" "" "0000049929" "00050009" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "PCR;SEQ" "DNA" "" "" 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"2019-01-25 19:01:49" "SEQ" "DNA" "" "screening" "0000049939" "00050019" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "PCR;SEQ" "DNA" "" "screening" "0000049940" "00050020" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "SEQ" "DNA" "" "screening" "0000049941" "00050021" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "PCR;SEQ" "DNA" "" "test" "0000049942" "00050022" "1" "00004" "00008" "2015-09-16 16:41:54" "" "" "SEQ" "DNA" "" "" "0000049943" "00050023" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "PCR;SEQ" "DNA" "" "screening" "0000049944" "00050024" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "PCR;SEQ" "DNA" "" "screening" "0000049945" "00050025" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "PCR;SEQ" "DNA" "" "screening" "0000049946" "00050026" "1" "00004" "00008" "2015-09-16 16:41:54" "00006" "2019-01-25 19:01:49" "SEQ" "DNA" 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"00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090601" "00090456" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090602" "00090457" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090604" "00090459" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090605" "00090460" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090606" "00090461" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000155876" "00155013" "1" "01693" "01693" "2018-03-09 05:53:02" "" "" "SEQ-NG" "DNA" "" "" "0000165867" "00164997" "1" "02509" "02509" "2018-06-20 15:13:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000184499" "00183531" "1" "02940" "00770" "2018-04-21 06:42:58" "00006" "2018-10-26 15:15:59" "SEQ" "DNA" "" "CRC 10 gene panel" "0000184500" "00183532" "1" "02940" "00770" "2018-04-21 06:42:58" "00006" "2018-10-26 15:15:59" "SEQ" "DNA" "" "CRC 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"0000219671" "00218601" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "DGGE;FISH;PCRlr" "DNA" "" "screening" "0000219672" "00218602" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "FISH;PCRlr" "DNA" "" "screening" "0000219673" "00218603" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "FISH;PCRlr" "DNA" "" "screening" "0000219674" "00218604" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "arrayCGH;microscope" "DNA" "" "screening" "0000219675" "00218605" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "microscope" "DNA" "" "screening" "0000219676" "00218606" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ-NG-I" "DNA" "" "screening" "0000219677" "00218607" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ-NG-I" "DNA" "" "screening" "0000219678" "00218608" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219679" "00218609" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219680" "00218610" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219681" "00218611" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219682" "00218612" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219683" "00218613" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219684" "00218614" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219685" "00218615" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219686" "00218616" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219687" "00218617" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219688" "00218618" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219689" "00218619" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219690" "00218620" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219691" "00218621" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000219692" "00218622" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219693" "00218623" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "PCR;SEQ" "DNA" "" "screening" "0000219694" "00218624" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "arraySNP;FISH;SEQ;MLPA" "DNA" "" "screening" "0000219695" "00218625" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "arraySNP;MLPA" "DNA" "" "screening" "0000219696" "00218626" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "arraySNP;MLPA" "DNA" "" "screening" "0000219697" "00218627" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "arraySNP;MLPA" "DNA" "" "screening" "0000219698" "00218628" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219699" "00218629" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219700" "00218630" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219701" "00218631" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219702" "00218632" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219703" "00218633" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219704" "00218634" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219705" "00218635" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219706" "00218636" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219707" "00218637" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219708" "00218638" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219709" "00218639" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219710" "00218640" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219711" "00218641" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219712" "00218642" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219713" "00218643" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219714" "00218644" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219715" "00218645" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219716" "00218646" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219717" "00218647" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ" "DNA" "" "screening" "0000219718" "00218648" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000219719" "00218649" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ-NG" "DNA" "" "screening" "0000219720" "00218650" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ-NG" "DNA" "" "screening" "0000219721" "00218651" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "SEQ-NG" "DNA" "" "screening" "0000219722" "00218652" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "microscope;FISH" "DNA" "" "screening" "0000219723" "00218653" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "microscope" "DNA" "" "screening" "0000219724" "00218654" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "microscope" "DNA" "" "screening" "0000219725" "00218655" "1" "00645" "00006" "2018-07-07 12:48:23" "" "" "MLPA" "DNA" "" "screening" "0000220006" "00218934" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220007" "00218935" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220008" "00218936" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220009" "00218937" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220010" "00218938" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220011" "00218939" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220012" "00218940" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220013" "00218941" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220014" "00218942" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220015" "00218943" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000220016" "00218944" "1" "00006" "00006" "2019-02-01 18:16:23" "" "" "SEQ;MLPA" "DNA" "" "target gene panel (SMAD4, BMPR1A, PTEN, CDH1)" "0000249536" "00248432" "1" "01164" "01164" "2019-07-23 18:26:22" "" "" "SEQ-NG-S" "DNA" "" "" "0000265141" "00264000" "1" "00727" "00727" "2019-09-05 18:31:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000291332" "00290164" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297079" "00295907" "1" "01164" "01164" "2020-03-30 10:43:41" "" "" "SEQ-NG-S" "DNA" "" "" "0000317260" "00316078" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000396638" "00395400" "1" "00006" "00006" "2021-12-05 14:54:03" "" "" "SEQ" "DNA" "" "" "0000408134" "00406888" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 335 "{{screeningid}}" "{{geneid}}" "0000034918" "BMPR1A" "0000034919" "BMPR1A" "0000034920" "BMPR1A" "0000034921" "BMPR1A" "0000034922" "BMPR1A" "0000034923" "BMPR1A" "0000049925" "BMPR1A" "0000049926" "BMPR1A" "0000049927" "BMPR1A" "0000049928" "BMPR1A" "0000049929" "BMPR1A" "0000049930" "BMPR1A" "0000049931" "BMPR1A" "0000049932" "BMPR1A" "0000049933" "BMPR1A" "0000049934" "BMPR1A" "0000049935" "BMPR1A" "0000049936" "BMPR1A" "0000049937" "BMPR1A" "0000049938" "BMPR1A" "0000049939" "BMPR1A" "0000049940" "BMPR1A" "0000049941" "BMPR1A" "0000049942" "BMPR1A" "0000049943" "BMPR1A" "0000049944" "BMPR1A" "0000049945" "BMPR1A" "0000049946" "BMPR1A" "0000049947" "BMPR1A" "0000049948" "BMPR1A" "0000049949" "BMPR1A" "0000049950" "BMPR1A" "0000049951" "BMPR1A" "0000049952" "BMPR1A" "0000049953" "BMPR1A" "0000049954" "BMPR1A" "0000049955" "BMPR1A" "0000049956" "BMPR1A" "0000049957" "BMPR1A" "0000049958" "BMPR1A" "0000049959" "BMPR1A" "0000049960" "BMPR1A" "0000049961" "BMPR1A" "0000049962" "BMPR1A" "0000049963" "BMPR1A" "0000049964" "BMPR1A" "0000049965" "BMPR1A" "0000049966" "BMPR1A" "0000049967" "BMPR1A" "0000049968" "BMPR1A" "0000049969" "BMPR1A" "0000049970" "BMPR1A" "0000049971" "BMPR1A" "0000049972" "BMPR1A" "0000049973" "BMPR1A" "0000049974" "BMPR1A" "0000049975" "BMPR1A" "0000049976" "BMPR1A" "0000049977" "BMPR1A" "0000049978" "BMPR1A" "0000049979" "BMPR1A" "0000049980" "BMPR1A" "0000049981" "BMPR1A" "0000049982" "BMPR1A" "0000049983" "BMPR1A" "0000049984" "BMPR1A" "0000049985" "BMPR1A" "0000049986" "BMPR1A" "0000049987" "BMPR1A" "0000090600" "BMPR1A" "0000090601" "BMPR1A" "0000090602" "BMPR1A" "0000090604" "BMPR1A" "0000090605" "BMPR1A" "0000090606" "BMPR1A" "0000184499" "BMPR1A" "0000184500" "BMPR1A" "0000184501" "BMPR1A" "0000184502" "BMPR1A" "0000184503" "BMPR1A" "0000184504" "BMPR1A" "0000184505" "BMPR1A" "0000205380" "ACVR1" "0000219488" "BMPR1A" "0000219489" "BMPR1A" "0000219490" "BMPR1A" "0000219491" "BMPR1A" "0000219492" "BMPR1A" "0000219493" "BMPR1A" "0000219494" "BMPR1A" "0000219495" "BMPR1A" 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"0000219541" "BMPR1A" "0000219542" "BMPR1A" "0000219543" "BMPR1A" "0000219544" "BMPR1A" "0000219545" "BMPR1A" "0000219546" "BMPR1A" "0000219547" "BMPR1A" "0000219548" "BMPR1A" "0000219549" "BMPR1A" "0000219550" "BMPR1A" "0000219551" "BMPR1A" "0000219552" "BMPR1A" "0000219553" "BMPR1A" "0000219554" "BMPR1A" "0000219555" "BMPR1A" "0000219556" "BMPR1A" "0000219557" "BMPR1A" "0000219558" "BMPR1A" "0000219559" "BMPR1A" "0000219560" "BMPR1A" "0000219561" "BMPR1A" "0000219562" "BMPR1A" "0000219563" "BMPR1A" "0000219564" "BMPR1A" "0000219565" "BMPR1A" "0000219566" "BMPR1A" "0000219567" "BMPR1A" "0000219568" "BMPR1A" "0000219569" "BMPR1A" "0000219570" "BMPR1A" "0000219571" "BMPR1A" "0000219572" "BMPR1A" "0000219573" "BMPR1A" "0000219574" "BMPR1A" "0000219575" "BMPR1A" "0000219576" "BMPR1A" "0000219577" "BMPR1A" "0000219578" "BMPR1A" "0000219579" "BMPR1A" "0000219580" "BMPR1A" "0000219581" "BMPR1A" "0000219582" "BMPR1A" "0000219583" "BMPR1A" "0000219584" "BMPR1A" "0000219585" "BMPR1A" "0000219586" "BMPR1A" "0000219587" "BMPR1A" "0000219588" "BMPR1A" "0000219589" "BMPR1A" "0000219590" "BMPR1A" "0000219591" "BMPR1A" "0000219592" "BMPR1A" "0000219593" "BMPR1A" "0000219594" "BMPR1A" "0000219595" "BMPR1A" "0000219596" "BMPR1A" "0000219597" "BMPR1A" "0000219598" "BMPR1A" "0000219599" "BMPR1A" "0000219600" "BMPR1A" "0000219601" "BMPR1A" "0000219602" "BMPR1A" "0000219603" "BMPR1A" "0000219604" "BMPR1A" "0000219605" "BMPR1A" "0000219606" "BMPR1A" "0000219607" "BMPR1A" "0000219608" "BMPR1A" "0000219609" "BMPR1A" "0000219610" "BMPR1A" "0000219611" "BMPR1A" "0000219612" "BMPR1A" "0000219613" "BMPR1A" "0000219614" "BMPR1A" "0000219615" "BMPR1A" "0000219616" "BMPR1A" "0000219617" "BMPR1A" "0000219618" "BMPR1A" "0000219619" "BMPR1A" "0000219620" "BMPR1A" "0000219621" "BMPR1A" "0000219622" "BMPR1A" "0000219623" "BMPR1A" "0000219624" "BMPR1A" "0000219625" "BMPR1A" "0000219626" "BMPR1A" "0000219627" "BMPR1A" "0000219628" "BMPR1A" "0000219629" "BMPR1A" "0000219630" "BMPR1A" "0000219631" "BMPR1A" "0000219632" "BMPR1A" "0000219633" "BMPR1A" "0000219634" "BMPR1A" "0000219635" "BMPR1A" "0000219636" "BMPR1A" "0000219637" "BMPR1A" "0000219638" "BMPR1A" "0000219639" "BMPR1A" "0000219640" "BMPR1A" "0000219641" "BMPR1A" "0000219642" "BMPR1A" "0000219643" "BMPR1A" "0000219644" "BMPR1A" "0000219645" "BMPR1A" "0000219646" "BMPR1A" "0000219647" "BMPR1A" "0000219648" "BMPR1A" "0000219649" "BMPR1A" "0000219650" "BMPR1A" "0000219651" "BMPR1A" "0000219652" "BMPR1A" "0000219653" "BMPR1A" "0000219654" "BMPR1A" "0000219655" "BMPR1A" "0000219656" "BMPR1A" "0000219657" "BMPR1A" "0000219658" "BMPR1A" "0000219659" "BMPR1A" "0000219660" "BMPR1A" "0000219661" "BMPR1A" "0000219662" "BMPR1A" "0000219663" "BMPR1A" "0000219664" "BMPR1A" "0000219665" "BMPR1A" "0000219666" "BMPR1A" "0000219667" "BMPR1A" "0000219668" "BMPR1A" "0000219669" "BMPR1A" "0000219670" "BMPR1A" "0000219671" "BMPR1A" "0000219672" "BMPR1A" "0000219673" "BMPR1A" "0000219674" "BMPR1A" "0000219675" "BMPR1A" "0000219676" "BMPR1A" "0000219677" "BMPR1A" "0000219678" "BMPR1A" "0000219679" "BMPR1A" "0000219680" "BMPR1A" "0000219681" "BMPR1A" "0000219682" "BMPR1A" "0000219683" "BMPR1A" "0000219684" "BMPR1A" "0000219685" "BMPR1A" "0000219686" "BMPR1A" "0000219687" "BMPR1A" "0000219688" "BMPR1A" "0000219689" "BMPR1A" "0000219690" "BMPR1A" "0000219691" "BMPR1A" "0000219692" "BMPR1A" "0000219693" "BMPR1A" "0000219694" "BMPR1A" "0000219695" "BMPR1A" "0000219696" "BMPR1A" "0000219697" "BMPR1A" "0000219698" "BMPR1A" "0000219699" "BMPR1A" "0000219700" "BMPR1A" "0000219701" "BMPR1A" "0000219702" "BMPR1A" "0000219703" "BMPR1A" "0000219704" "BMPR1A" "0000219705" "BMPR1A" "0000219706" "BMPR1A" "0000219707" "BMPR1A" "0000219708" "BMPR1A" "0000219709" "BMPR1A" "0000219710" "BMPR1A" "0000219711" "BMPR1A" "0000219712" "BMPR1A" "0000219713" "BMPR1A" "0000219714" "BMPR1A" "0000219715" "BMPR1A" "0000219716" "BMPR1A" "0000219717" "BMPR1A" "0000219718" "BMPR1A" "0000219719" "BMPR1A" "0000219720" "BMPR1A" "0000219721" "BMPR1A" "0000219722" "BMPR1A" "0000219723" "BMPR1A" "0000219724" "BMPR1A" "0000219725" "BMPR1A" "0000220006" "BMPR1A" "0000220007" "BMPR1A" "0000220008" "BMPR1A" "0000220009" "BMPR1A" "0000220010" "BMPR1A" "0000220011" "BMPR1A" "0000220012" "BMPR1A" "0000220013" "BMPR1A" "0000220014" "BMPR1A" "0000220015" "BMPR1A" "0000220016" "BMPR1A" "0000220016" "PTEN" "0000265141" "BMPR1A" "0000317260" "BMPR1A" ## 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 = 412 "{{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}}" "0000044478" "21" "50" "10" "88683169" "88683169" "subst" "0.0000324857" "00126" "BMPR1A_000001" "g.88683169T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86923412T>C" "" "VUS" "" "0000062037" "1" "10" "10" "88679200" "88679200" "subst" "0.0145892" "01164" "BMPR1A_000004" "g.88679200C>T" "Frequency up to 5%" "" "" "" "cDNA analysis: WT fragment + sequence" "Germline" "" "rs3557241" "0" "" "" "g.86919443C>T" "" "benign" "" "0000062038" "1" "50" "10" "88683223" "88683223" "subst" "0.000166485" "01164" "BMPR1A_000005" "g.88683223G>A" "" "" "" "" "Alamut: in Protein-Kinase Domäne, highly conserved AA; PolyPhen PSIC score: 1,5-probably damaging" "Germline" "" "" "0" "" "" "g.86923466G>A" "" "VUS" "" "0000062039" "1" "10" "10" "88635751" "88635751" "subst" "0.0034755" "01164" "BMPR1A_000007" "g.88635751A>G" "" "" "" "" "" "Germline" "" "rs116346662" "0" "" "" "g.86875994A>G" "" "benign" "" "0000062040" "1" "50" "10" "88651952" "88651952" "subst" "0" "01164" "BMPR1A_000006" "g.88651952G>A" "" "" "" "" "PolyPhen: prob. damaging-PSIC score 1,2;" "Germline" "" "" "0" "" "" "g.86892195G>A" "" "VUS" "" "0000062041" "1" "10" "10" "88659758" "88659758" "subst" "0.0302976" "01164" "BMPR1A_000002" "g.88659758T>A" "Frequency up to 35%" "" "" "" "Destroys an annotated disulfitbrigde!" "Germline" "" "rs7920259" "0" "" "" "g.86900001T>A" "" "benign" "" "0000062042" "1" "90" "10" "88659877" "88659878" "dup" "0" "01164" "BMPR1A_000003" "g.88659877_88659878dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86900120_86900121dup" "" "pathogenic" "" "0000078839" "0" "59" "10" "88635776" "88635776" "subst" "0" "00004" "BMPR1A_000059" "g.88635776A>C" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "M1L" "" "Germline" "" "" "0" "" "" "g.86876019A>C" "" "VUS" "" "0000078840" "0" "99" "10" "88649821" "88649821" "subst" "0" "00004" "BMPR1A_000061" "g.88649821C>T" "" "{PMID:O\'Riordan 2010:19438883}, {DOI:O\'Riordan 2010:10.1111/j.1463-1318.2009.01931.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86890064C>T" "" "pathogenic" "ACMG" "0000078841" "0" "99" "10" "88672049" "88672049" "subst" "0" "00004" "BMPR1A_000014" "g.88672049C>T" "" "{PMID:Friedl 2002:12136244}" "" "" "" "Germline" "" "" "0" "" "" "g.86912292C>T" "" "pathogenic" "" "0000078842" "0" "99" "10" "88659572" "88659572" "subst" "0" "00004" "BMPR1A_000008" "g.88659572C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.86899815C>T" "" "pathogenic" "" "0000078843" "0" "55" "10" "88651886" "88651886" "subst" "0" "00004" "BMPR1A_000035" "g.88651886C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86892129C>T" "" "VUS" "ACMG" "0000078844" "0" "59" "10" "88651915" "88651915" "subst" "0" "00004" "BMPR1A_000038" "g.88651915G>T" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86892158G>T" "" "VUS" "ACMG" "0000078845" "0" "99" "10" "88683199" "88683199" "subst" "0" "00004" "BMPR1A_000054" "g.88683199T>C" "" "{PMID:Kim 2003:12630959}, {DOI:Kim 2003:10.1034./j.1399-0004.2003.00008.x}" "" "M470T" "ACMG PM2, PP3" "Germline" "" "rs199476089" "0" "" "" "g.86923442T>C" "" "pathogenic" "ACMG" "0000078846" "0" "99" "10" "88659587" "88659587" "subst" "0" "00004" "BMPR1A_000009" "g.88659587T>C" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "C124R" "" "Germline/De novo (untested)" "" "rs199476087" "0" "" "" "g.86899830T>C" "" "pathogenic" "" "0000078847" "0" "99" "10" "88659605" "88659605" "subst" "0" "00004" "BMPR1A_000010" "g.88659605T>C" "" "{PMID:Friedl 2002:12136244}" "" "" "" "Germline" "" "" "0" "" "" "g.86899848T>C" "" "pathogenic" "" "0000078848" "0" "59" "10" "88679117" "88679117" "subst" "0" "00004" "BMPR1A_000032" "g.88679117C>T" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919360C>T" "" "VUS" "ACMG" "0000078849" "0" "59" "10" "88659566" "88659566" "subst" "0" "00004" "BMPR1A_000040" "g.88659566C>T" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86899809C>T" "" "VUS" "ACMG" "0000078850" "0" "99" "10" "88681339" "88681339" "subst" "0" "00004" "BMPR1A_000049" "g.88681339C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.86921582C>T" "" "pathogenic" "" "0000078851" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00004" "BMPR1A_000033" "g.88649921C>G" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000078852" "0" "55" "10" "88681341" "88681341" "subst" "0" "00004" "BMPR1A_000050" "g.88681341G>A" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86921584G>A" "" "VUS" "ACMG" "0000078853" "0" "55" "10" "88676976" "88676976" "subst" "0.0000121875" "00004" "BMPR1A_000020" "g.88676976G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "" "Germline" "" "" "0" "" "" "g.86917219G>A" "" "VUS" "" "0000078854" "0" "55" "10" "88649935" "88649935" "subst" "0" "00004" "BMPR1A_000034" "g.88649935T>G" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890178T>G" "" "VUS" "ACMG" "0000078855" "0" "59" "10" "88676930" "88676930" "subst" "0" "00004" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000078856" "0" "99" "10" "88676897" "88676897" "subst" "0" "00004" "BMPR1A_000017" "g.88676897C>T" "" "{PMID:Friedl 2002:12136244}" "" "" "" "Germline" "" "" "0" "" "" "g.86917140C>T" "" "pathogenic" "" "0000078857" "0" "55" "10" "88683228" "88683228" "subst" "0" "00004" "BMPR1A_000055" "g.88683228C>T" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2008:10.1136/gut.2007.142927}" "" "" "ACMG PM2, PP3, PM5" "Germline" "" "rs876658515" "0" "" "" "g.86923471C>T" "" "VUS" "ACMG" "0000078858" "0" "99" "10" "88679073" "88679073" "subst" "0" "00004" "BMPR1A_000031" "g.88679073C>A" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "A338D" "" "Germline" "" "rs199476086" "0" "" "" "g.86919316C>A" "" "pathogenic" "" "0000078859" "0" "59" "10" "88672033" "88672033" "subst" "0" "00004" "BMPR1A_000013" "g.88672033C>A" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86912276C>A" "" "VUS" "ACMG" "0000078860" "0" "59" "10" "88681385" "88681385" "subst" "0" "00004" "BMPR1A_000051" "g.88681385C>A" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86921628C>A" "" "VUS" "ACMG" "0000078861" "0" "99" "10" "88649882" "88649882" "subst" "0" "00004" "BMPR1A_000058" "g.88649882C>G" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "S44X" "" "Germline" "" "" "0" "" "" "g.86890125C>G" "" "pathogenic" "" "0000078862" "0" "99" "10" "88679070" "88679070" "subst" "0" "00004" "BMPR1A_000030" "g.88679070C>G" "" "{PMID:Friedl 2002:12136244}" "" "" "" "Germline" "" "" "0" "" "" "g.86919313C>G" "" "pathogenic" "" "0000078863" "0" "99" "10" "88677032" "88677032" "subst" "0" "00004" "BMPR1A_000022" "g.88677032C>T" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "R273X" "" "Germline" "" "rs587782400" "0" "" "" "g.86917275C>T" "" "pathogenic" "" "0000078864" "0" "99" "10" "88679141" "88679141" "subst" "0.00000406769" "00004" "BMPR1A_000047" "g.88679141C>T" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "R361X" "" "Germline" "" "rs764466442" "0" "" "" "g.86919384C>T" "" "pathogenic" "" "0000078865" "0" "55" "10" "88681437" "88681437" "subst" "0.000661881" "00004" "BMPR1A_000052" "g.88681437C>T" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "ACMG PP3, PP5" "Germline" "" "" "0" "" "" "g.86921680C>T" "" "VUS" "ACMG" "0000078866" "0" "55" "10" "88651898" "88651898" "subst" "0" "00004" "BMPR1A_000037" "g.88651898G>A" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86892141G>A" "" "VUS" "ACMG" "0000078867" "0" "99" "10" "88679187" "88679187" "subst" "0" "00004" "BMPR1A_000048" "g.88679187G>A" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "C376Y" "" "Germline" "" "rs199476088" "0" "" "" "g.86919430G>A" "" "pathogenic" "" "0000078868" "0" "59" "10" "88677027" "88677027" "subst" "0" "00004" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000078869" "0" "99" "10" "88651891" "88651891" "subst" "0" "00004" "BMPR1A_000036" "g.88651891G>A" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.86892134G>A" "" "pathogenic" "" "0000078870" "0" "99" "10" "88649816" "88649816" "subst" "0" "00004" "BMPR1A_000103" "g.88649816C>G" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "IVS1-3C>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86890059C>G" "" "pathogenic" "" "0000078871" "0" "99" "10" "88671996" "88671996" "subst" "0" "00004" "BMPR1A_000104" "g.88671996G>T" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "IVS5-1G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86912239G>T" "" "pathogenic" "" "0000078872" "0" "59" "10" "88635843" "88635843" "subst" "0" "00004" "BMPR1A_000100" "g.88635843G>T" "" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "IVS1+1G>T" "" "Germline" "" "" "0" "" "" "g.86876086G>T" "" "VUS" "" "0000078873" "0" "55" "10" "88651991" "88651991" "subst" "0" "00004" "BMPR1A_000101" "g.88651991G>C" "" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "IVS3+5G>C" "" "Germline" "" "" "0" "" "" "g.86892234G>C" "" "VUS" "" "0000078874" "0" "59" "10" "88659783" "88659783" "subst" "0" "00004" "BMPR1A_000099" "g.88659783G>A" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "IVS4-1G>A" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.86900026G>A" "" "VUS" "ACMG" "0000078875" "0" "59" "10" "88677084" "88677084" "subst" "0" "00004" "BMPR1A_000098" "g.88677084G>A" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "IVS7+1G>A" "ACMG PM2, PP3, PVS1" "Germline" "" "" "0" "" "" "g.86917327G>A" "" "VUS" "ACMG" "0000078876" "0" "99" "10" "88659649" "88659649" "subst" "0" "00004" "BMPR1A_000097" "g.88659649T>C" "" "{PMID:Aretz 2007:17873119}" "" "" "" "De novo" "" "" "0" "" "" "g.86899892T>C" "" "pathogenic (dominant)" "" "0000078877" "0" "55" "10" "88671995" "88671995" "subst" "0" "00004" "BMPR1A_000102" "g.88671995A>G" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2008:10.1136/gut.2007.142927}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86912238A>G" "" "VUS" "ACMG" "0000078878" "0" "59" "10" "88676950" "88676951" "delins" "0" "00004" "BMPR1A_000019" "g.88676950_88676951delinsAT" "" "{PMID:Howe 2008:18262054}, {DOI:Howe 2008:10.1016/j.cancergencyto.2007.11.001}" "" "735-6 TG>AT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917193_86917194delinsAT" "" "VUS" "ACMG" "0000078879" "0" "59" "10" "88679121" "88679121" "delins" "0" "00004" "BMPR1A_000043" "g.88679121delinsCA" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "1061delGinsCA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919364delinsCA" "" "VUS" "ACMG" "0000078880" "0" "59" "10" "88659570" "88659570" "del" "0" "00004" "BMPR1A_000042" "g.88659570del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "353delT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86899813del" "" "VUS" "ACMG" "0000078881" "0" "99" "10" "88677085" "88677086" "del" "0" "00004" "BMPR1A_000026" "g.88677085_88677086del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "IVS7+1-2delGT" "" "Germline" "" "" "0" "" "" "g.86917328_86917329del" "" "pathogenic" "" "0000078882" "0" "99" "10" "88659636" "88659637" "del" "0" "00004" "BMPR1A_000012" "g.88659636_88659637del" "" "{PMID:Aretz 2007:17873119}" "" "419_420delCT" "" "Germline" "" "" "0" "" "" "g.86899879_86899880del" "" "pathogenic (dominant)" "" "0000078883" "0" "59" "10" "88679124" "88679124" "del" "0" "00004" "BMPR1A_000045" "g.88679124del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "1064delA" "" "Germline" "" "" "0" "" "" "g.86919367del" "" "VUS" "" "0000078884" "0" "59" "10" "88677079" "88677085" "del" "0" "00004" "BMPR1A_000025" "g.88677079_88677085del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "864_868+2delACTTG|IVS7-GT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917322_86917328del" "" "VUS" "ACMG" "0000078885" "0" "59" "10" "88677079" "88677083" "del" "0" "00004" "BMPR1A_000024" "g.88677079_88677083del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "864_868delACTTG" "ACMG PVS1, PM2, PM4, PP3" "De novo" "" "" "0" "" "" "g.86917322_86917326del" "" "VUS" "ACMG" "0000078886" "0" "55" "10" "88683433" "88683435" "del" "0" "00004" "BMPR1A_000057" "g.88683433_88683435del" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "1552-1554delAAG" "ACMG PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86923676_86923678del" "" "VUS" "ACMG" "0000078887" "0" "99" "10" "88649878" "88649888" "del" "0" "00004" "BMPR1A_000062" "g.88649878_88649888del" "" "{PMID:Cao 2006:16525031}, {DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "127_137delAAGTCAGAAAA" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "g.86890121_86890131del" "" "pathogenic" "ACMG" "0000078888" "0" "59" "10" "88683367" "88683367" "del" "0" "00004" "BMPR1A_000056" "g.88683367del" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "1490delT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86923610del" "" "VUS" "ACMG" "0000078889" "0" "99" "10" "88678948" "88678948" "del" "0" "00004" "BMPR1A_000027" "g.88678948del" "" "{PMID:Friedl 2002:12136244}" "" "c.888delT" "" "Germline" "" "" "0" "" "" "g.86919191del" "" "pathogenic" "" "0000078890" "0" "59" "10" "88672140" "88672140" "del" "0" "00004" "BMPR1A_000016" "g.88672140del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "673delT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86912383del" "" "VUS" "ACMG" "0000078891" "0" "59" "10" "88679021" "88679021" "del" "0" "00004" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "961delC" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000078892" "0" "99" "10" "88679139" "88679141" "del" "0" "00004" "BMPR1A_000046" "g.88679139_88679141del" "" "{PMID:Lipton 2003:12676908}, {DOI:Lipton 2003:10.1136/jmg. 40.4.e35}" "" "1079_1081delATC" "ACMG PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.86919382_86919384del" "" "pathogenic" "ACMG" "0000078893" "0" "59" "10" "88635819" "88635822" "del" "0" "00004" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000078894" "0" "59" "10" "88679121" "88679121" "del" "0" "00004" "BMPR1A_000044" "g.88679121del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "1061delG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919364del" "" "VUS" "ACMG" "0000078895" "0" "55" "10" "88651917" "88651919" "del" "0" "00004" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000078896" "0" "99" "10" "88677041" "88677042" "del" "0" "00004" "BMPR1A_000023" "g.88677041_88677042del" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "826-7delGA" "" "Germline" "" "" "0" "" "" "g.86917284_86917285del" "" "pathogenic" "" "0000078897" "0" "59" "10" "88683137" "88683137" "del" "0" "00004" "BMPR1A_000053" "g.88683137del" "" "{PMID:Handra-Luca 2005:16152648}, {DOI:Handra-Luca 2005:10.1002/ajmg.a.30897}" "" "1347delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86923380del" "" "VUS" "ACMG" "0000078898" "0" "59" "10" "88659568" "88659568" "dup" "0" "00004" "BMPR1A_000041" "g.88659568dup" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "351-352insG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86899811dup" "" "VUS" "ACMG" "0000078899" "0" "59" "10" "88678980" "88678981" "ins" "0" "00004" "BMPR1A_000028" "g.88678980_88678981insAATT" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "920_921insAATT" "" "Germline" "" "" "0" "" "" "g.86919223_86919224insAATT" "" "VUS" "" "0000078900" "0" "59" "10" "88659622" "88659622" "dup" "0" "00004" "BMPR1A_000011" "g.88659622dup" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "405-406insA" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86899865dup" "" "VUS" "ACMG" "0000078901" "0" "99" "10" "88672131" "88672131" "dup" "0" "00004" "BMPR1A_000015" "g.88672131dup" "" "{PMID:Zhou 2001:11536076}, {DOI:Zhou 2001:10.1086/323703}" "" "665insT" "" "Germline" "" "" "0" "" "" "g.86912374dup" "" "pathogenic" "" "0000148729" "1" "50" "10" "88649825" "88649825" "subst" "0" "01816" "BMPR1A_000068" "g.88649825A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.86890068A>G" "" "VUS" "" "0000148730" "1" "50" "10" "88649834" "88649834" "subst" "0.00000406392" "01816" "BMPR1A_000066" "g.88649834G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.86890077G>A" "" "VUS" "" "0000148731" "1" "50" "10" "88672028" "88672028" "subst" "0.00000812618" "01816" "BMPR1A_000067" "g.88672028C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.86912271C>T" "" "VUS" "" "0000148733" "1" "50" "10" "88681437" "88681437" "subst" "0.000661881" "01816" "BMPR1A_000052" "g.88681437C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.86921680C>T" "" "VUS" "" "0000148734" "1" "50" "10" "88683223" "88683223" "subst" "0.000166485" "01816" "BMPR1A_000005" "g.88683223G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.86923466G>A" "" "VUS" "" "0000148735" "1" "50" "10" "88683228" "88683228" "subst" "0" "01816" "BMPR1A_000055" "g.88683228C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.86923471C>T" "" "VUS" "" "0000246931" "0" "10" "10" "88681458" "88681458" "subst" "0.00567273" "02330" "BMPR1A_000085" "g.88681458A>G" "" "" "" "BMPR1A(NM_004329.2):c.1342+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86921701A>G" "" "benign" "" "0000246945" "0" "30" "10" "88683158" "88683158" "subst" "0.00000406078" "02330" "BMPR1A_000089" "g.88683158A>G" "" "" "" "BMPR1A(NM_004329.2):c.1368A>G (p.P456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86923401A>G" "" "likely benign" "" "0000254817" "0" "30" "10" "88683397" "88683397" "subst" "0.0000203034" "01943" "BMPR1A_000090" "g.88683397A>G" "" "" "" "BMPR1A(NM_004329.2):c.1520A>G (p.N507S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86923640A>G" "" "likely benign" "" "0000258677" "0" "10" "10" "88679200" "88679200" "subst" "0.0145892" "02330" "BMPR1A_000004" "g.88679200C>T" "" "" "" "BMPR1A(NM_004329.2):c.1140C>T (p.D380=, p.(Asp380=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86919443C>T" "" "benign" "" "0000258678" "0" "30" "10" "88681262" "88681262" "subst" "0" "02330" "BMPR1A_000073" "g.88681262T>G" "" "" "" "BMPR1A(NM_004329.2):c.1167-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86921505T>G" "" "likely benign" "" "0000258679" "0" "10" "10" "88681409" "88681409" "subst" "0.000487266" "02330" "BMPR1A_000074" "g.88681409C>T" "" "" "" "BMPR1A(NM_004329.2):c.1299C>T (p.F433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86921652C>T" "" "benign" "" "0000258680" "0" "50" "10" "88681437" "88681437" "subst" "0.000661881" "02330" "BMPR1A_000052" "g.88681437C>T" "" "" "" "BMPR1A(NM_004329.2):c.1327C>T (p.R443C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86921680C>T" "" "VUS" "" "0000258681" "0" "10" "10" "88683122" "88683122" "subst" "0.352616" "02330" "BMPR1A_000086" "g.88683122T>C" "" "" "" "BMPR1A(NM_004329.2):c.1343-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86923365T>C" "" "benign" "" "0000258682" "0" "10" "10" "88659788" "88659788" "subst" "0.0103564" "02330" "BMPR1A_000070" "g.88659788G>A" "" "" "" "BMPR1A(NM_004329.2):c.435G>A (p.P145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86900031G>A" "" "benign" "" "0000258683" "0" "10" "10" "88635779" "88635779" "subst" "0.355904" "02330" "BMPR1A_000069" "g.88635779C>A" "" "" "" "BMPR1A(NM_004329.2):c.4C>A (p.P2T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86876022C>A" "" "benign" "" "0000258684" "0" "10" "10" "88672153" "88672153" "subst" "0.0101563" "02330" "BMPR1A_000072" "g.88672153G>A" "" "" "" "BMPR1A(NM_004329.2):c.675+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86912396G>A" "" "benign" "" "0000260406" "0" "10" "10" "88679200" "88679200" "subst" "0.0145892" "02329" "BMPR1A_000004" "g.88679200C>T" "" "" "" "BMPR1A(NM_004329.2):c.1140C>T (p.D380=, p.(Asp380=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86919443C>T" "" "benign" "" "0000260407" "0" "50" "10" "88681435" "88681435" "subst" "0" "02329" "BMPR1A_000075" "g.88681435G>A" "" "" "" "BMPR1A(NM_004329.2):c.1325G>A (p.R442H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86921678G>A" "" "VUS" "" "0000260408" "0" "10" "10" "88659788" "88659788" "subst" "0.0103564" "02329" "BMPR1A_000070" "g.88659788G>A" "" "" "" "BMPR1A(NM_004329.2):c.435G>A (p.P145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86900031G>A" "" "benign" "" "0000260409" "0" "10" "10" "88672153" "88672153" "subst" "0.0101563" "02329" "BMPR1A_000072" "g.88672153G>A" "" "" "" "BMPR1A(NM_004329.2):c.675+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86912396G>A" "" "benign" "" "0000263731" "0" "10" "10" "88683122" "88683122" "subst" "0.352616" "01943" "BMPR1A_000086" "g.88683122T>C" "" "" "" "BMPR1A(NM_004329.2):c.1343-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86923365T>C" "" "benign" "" "0000263732" "0" "10" "10" "88635779" "88635779" "subst" "0.355904" "01943" "BMPR1A_000069" "g.88635779C>A" "" "" "" "BMPR1A(NM_004329.2):c.4C>A (p.P2T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86876022C>A" "" "benign" "" "0000263733" "0" "50" "10" "88672095" "88672095" "subst" "0.00000406289" "01943" "BMPR1A_000071" "g.88672095T>C" "" "" "" "BMPR1A(NM_004329.2):c.629T>C (p.I210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86912338T>C" "" "VUS" "" "0000336847" "0" "10" "10" "88681458" "88681458" "subst" "0.00567273" "02327" "BMPR1A_000085" "g.88681458A>G" "" "" "" "BMPR1A(NM_004329.2):c.1342+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86921701A>G" "" "benign" "" "0000338847" "0" "90" "10" "88659782" "88659782" "subst" "0" "02327" "BMPR1A_000080" "g.88659782A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86900025A>C" "" "pathogenic" "" "0000338848" "0" "10" "10" "88672153" "88672153" "subst" "0.0101563" "02327" "BMPR1A_000072" "g.88672153G>A" "" "" "" "BMPR1A(NM_004329.2):c.675+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86912396G>A" "" "benign" "" "0000338850" "0" "30" "10" "88683847" "88683847" "subst" "0" "02327" "BMPR1A_000087" "g.88683847C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86924090C>T" "" "likely benign" "" "0000340513" "0" "10" "10" "88659788" "88659788" "subst" "0.0103564" "02327" "BMPR1A_000070" "g.88659788G>A" "" "" "" "BMPR1A(NM_004329.2):c.435G>A (p.P145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86900031G>A" "" "benign" "" "0000340514" "0" "10" "10" "88679200" "88679200" "subst" "0.0145892" "02327" "BMPR1A_000004" "g.88679200C>T" "" "" "" "BMPR1A(NM_004329.2):c.1140C>T (p.D380=, p.(Asp380=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86919443C>T" "" "benign" "" "0000340744" "0" "30" "10" "88651899" "88651899" "subst" "0" "02327" "BMPR1A_000079" "g.88651899C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86892142C>T" "" "likely benign" "" "0000342391" "0" "90" "10" "88676945" "88676945" "subst" "0" "02327" "BMPR1A_000081" "g.88676945C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86917188C>T" "" "pathogenic" "" "0000344435" "0" "90" "10" "88649940" "88649940" "subst" "0" "02327" "BMPR1A_000078" "g.88649940C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86890183C>A" "" "pathogenic" "" "0000347716" "0" "70" "10" "88635778" "88635778" "subst" "0" "02327" "BMPR1A_000076" "g.88635778G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86876021G>A" "" "likely pathogenic" "" "0000348360" "0" "10" "10" "88635779" "88635779" "subst" "0.355904" "02327" "BMPR1A_000069" "g.88635779C>A" "" "" "" "BMPR1A(NM_004329.2):c.4C>A (p.P2T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86876022C>A" "" "benign" "" "0000349767" "0" "90" "10" "88678966" "88678966" "subst" "0" "02327" "BMPR1A_000084" "g.88678966G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86919209G>A" "" "pathogenic" "" "0000351412" "0" "10" "10" "88683122" "88683122" "subst" "0.352616" "02327" "BMPR1A_000086" "g.88683122T>C" "" "" "" "BMPR1A(NM_004329.2):c.1343-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86923365T>C" "" "benign" "" "0000357617" "0" "50" "10" "88659852" "88659852" "subst" "0.0000650227" "01693" "BMPR1A_000088" "g.88659852A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.86900095A>G" "" "VUS" "" "0000369631" "0" "90" "10" "88678938" "88678938" "subst" "0" "02509" "BMPR1A_000091" "g.88678938C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86919181C>T" "" "pathogenic" "" "0000408614" "0" "70" "10" "88681453" "88681453" "subst" "0" "02940" "BMPR1A_000093" "g.88681453G>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.86921696G>T" "" "likely pathogenic" "" "0000408615" "0" "90" "10" "88676897" "88676897" "subst" "0" "02940" "BMPR1A_000094" "g.88676897C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.86917140C>T" "" "pathogenic" "" "0000408616" "0" "90" "10" "88681453" "88681453" "subst" "0" "02940" "BMPR1A_000093" "g.88681453G>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.86921696G>T" "" "pathogenic" "" "0000408617" "0" "90" "10" "88635844" "88635844" "subst" "0" "02940" "BMPR1A_000092" "g.88635844T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.86876087T>C" "" "pathogenic" "" "0000408618" "0" "90" "10" "88651924" "88651924" "subst" "0" "02940" "BMPR1A_000095" "g.88651924C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.86892167C>T" "" "pathogenic" "" "0000408619" "0" "90" "10" "88681345" "88681346" "dup" "0" "02940" "BMPR1A_000096" "g.88681345_88681346dup" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.86921588_86921589dup" "" "pathogenic" "" "0000408620" "0" "70" "10" "88635844" "88635844" "subst" "0" "02940" "BMPR1A_000092" "g.88635844T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "disruptive variant" "Germline" "" "" "0" "" "" "g.86876087T>C" "" "likely pathogenic" "" "0000454357" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "44_7delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454358" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "44_7delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454359" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "44_7delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454360" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "44_7delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454361" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "44_7delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454362" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "44_7delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454363" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "44_7delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454364" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "44_7delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454365" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "44_7delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454366" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454367" "0" "55" "10" "88651886" "88651886" "subst" "0" "00645" "BMPR1A_000035" "g.88651886C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86892129C>T" "" "VUS" "ACMG" "0000454368" "0" "55" "10" "88651898" "88651898" "subst" "0" "00645" "BMPR1A_000037" "g.88651898G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86892141G>A" "" "VUS" "ACMG" "0000454369" "0" "59" "10" "88651915" "88651915" "subst" "0" "00645" "BMPR1A_000038" "g.88651915G>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" "" "rs730881431" "0" "" "" "g.86892158G>T" "" "VUS" "ACMG" "0000454370" "0" "59" "10" "88651915" "88651915" "subst" "0" "00645" "BMPR1A_000038" "g.88651915G>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" "" "rs730881431" "0" "" "" "g.86892158G>T" "" "VUS" "ACMG" "0000454371" "0" "59" "10" "88659566" "88659566" "subst" "0" "00645" "BMPR1A_000040" "g.88659566C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86899809C>T" "" "VUS" "ACMG" "0000454372" "0" "59" "10" "88659570" "88659570" "del" "0" "00645" "BMPR1A_000042" "g.88659570del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "353delT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86899813del" "" "VUS" "ACMG" "0000454373" "0" "59" "10" "88672140" "88672140" "del" "0" "00645" "BMPR1A_000016" "g.88672140del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "674delT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86912383del" "" "VUS" "ACMG" "0000454374" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454375" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454376" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454377" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454378" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454379" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454380" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454381" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454382" "0" "59" "10" "88676950" "88676951" "delins" "0" "00645" "BMPR1A_000019" "g.88676950_88676951delinsAT" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "735T>A;736G>T" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917193_86917194delinsAT" "" "VUS" "ACMG" "0000454383" "0" "59" "10" "88676950" "88676951" "delins" "0" "00645" "BMPR1A_000019" "g.88676950_88676951delinsAT" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "735T>A;736G>T" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917193_86917194delinsAT" "" "VUS" "ACMG" "0000454384" "0" "59" "10" "88676950" "88676951" "delins" "0" "00645" "BMPR1A_000019" "g.88676950_88676951delinsAT" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "735T>A;736G>T" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917193_86917194delinsAT" "" "VUS" "ACMG" "0000454385" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454386" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454387" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454388" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454389" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454390" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454391" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454392" "0" "59" "10" "88677032" "88677032" "subst" "0" "00645" "BMPR1A_000022" "g.88677032C>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" "" "rs587782400" "0" "" "" "g.86917275C>T" "" "VUS" "ACMG" "0000454393" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454394" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454395" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454396" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454397" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454398" "0" "59" "10" "88679121" "88679121" "del" "0" "00645" "BMPR1A_000044" "g.88679121del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "1061delG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919364del" "" "VUS" "ACMG" "0000454399" "0" "55" "10" "88681437" "88681437" "subst" "0.000661881" "00645" "BMPR1A_000052" "g.88681437C>T" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.86921680C>T" "" "VUS" "ACMG" "0000454400" "0" "59" "10" "88677079" "88677085" "del" "0" "00645" "BMPR1A_000025" "g.88677079_88677085del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "864_8delACTTG868+1_2delGT" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.86917322_86917328del" "" "VUS" "ACMG" "0000454401" "0" "59" "10" "0" "0" "" "0" "00645" "BMPR1A_000105" "g.(?_88490000_89750000_?)del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "del entire BMPR1a and PTEN genes" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454402" "0" "55" "10" "88516396" "88557649" "del" "0" "00645" "BMPR1A_000108" "g.(?_88516396)_(88516677_88598621)del" "" "{PMID:Calva-Cerqueira 2009:18823382}, {DOI:Calva-Cerqueira 2009:10.1111/j.1399-0004.2008.01091.x}" "" "del promotor_first non-coding exon" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454403" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454404" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454405" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454406" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454407" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454408" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454409" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454410" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454411" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454412" "0" "99" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454413" "0" "99" "10" "88649878" "88649888" "del" "0" "00645" "BMPR1A_000062" "g.88649878_88649888del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "ex2 11 bp del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "g.86890121_86890131del" "" "pathogenic" "ACMG" "0000454414" "0" "99" "10" "88649878" "88649888" "del" "0" "00645" "BMPR1A_000062" "g.88649878_88649888del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "ex2 11 bp del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "g.86890121_86890131del" "" "pathogenic" "ACMG" "0000454415" "0" "99" "10" "88649878" "88649888" "del" "0" "00645" "BMPR1A_000062" "g.88649878_88649888del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "ex2 11 bp del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "g.86890121_86890131del" "" "pathogenic" "ACMG" "0000454416" "0" "99" "10" "88649878" "88649888" "del" "0" "00645" "BMPR1A_000062" "g.88649878_88649888del" "" "{DOI:Cao 2006:10.1136/jmg.2005.034827}, {DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "ex2 11 bp del" "ACMG PVS1, PP1-S, PM2" "Germline" "" "" "0" "" "" "g.86890121_86890131del" "" "pathogenic" "ACMG" "0000454417" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454418" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454419" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454420" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454421" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454422" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454423" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454424" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454425" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454426" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454427" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454428" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454429" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454430" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454431" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454432" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454433" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454434" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454435" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "961delC" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454436" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "961delC" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454437" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "961delC" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454438" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2001:11381269}, {DOI:Howe 2001:10.1038/88919}" "" "961delC" "ACMG PVS1, PM2, PM4, PP1, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454439" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454440" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454441" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454442" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454443" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454444" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454445" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454446" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454447" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454448" "0" "55" "10" "88649935" "88649935" "subst" "0" "00645" "BMPR1A_000034" "g.88649935T>G" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890178T>G" "" "VUS" "ACMG" "0000454449" "0" "55" "10" "88649935" "88649935" "subst" "0" "00645" "BMPR1A_000034" "g.88649935T>G" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890178T>G" "" "VUS" "ACMG" "0000454450" "0" "55" "10" "88651898" "88651898" "subst" "0" "00645" "BMPR1A_000037" "g.88651898G>A" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86892141G>A" "" "VUS" "ACMG" "0000454451" "0" "59" "10" "88651915" "88651915" "subst" "0" "00645" "BMPR1A_000038" "g.88651915G>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs730881431" "0" "" "" "g.86892158G>T" "" "VUS" "ACMG" "0000454452" "0" "59" "10" "88651915" "88651915" "subst" "0" "00645" "BMPR1A_000038" "g.88651915G>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs730881431" "0" "" "" "g.86892158G>T" "" "VUS" "ACMG" "0000454453" "0" "59" "10" "88659566" "88659566" "subst" "0" "00645" "BMPR1A_000040" "g.88659566C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86899809C>T" "" "VUS" "ACMG" "0000454454" "0" "59" "10" "88659570" "88659570" "del" "0" "00645" "BMPR1A_000042" "g.88659570del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "353delT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86899813del" "" "VUS" "ACMG" "0000454455" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454456" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454457" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454458" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454459" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454460" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454461" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454462" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454463" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454464" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454465" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454466" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454467" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454468" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454469" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454470" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454471" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454472" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454473" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454474" "0" "55" "10" "88679073" "88679073" "subst" "0" "00645" "BMPR1A_000031" "g.88679073C>A" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PM2, PP3" "Germline" "" "rs199476086" "0" "" "" "g.86919316C>A" "" "VUS" "ACMG" "0000454475" "0" "59" "10" "88679121" "88679121" "del" "0" "00645" "BMPR1A_000044" "g.88679121del" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "1061delG" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919364del" "" "VUS" "ACMG" "0000454476" "0" "55" "10" "88681437" "88681437" "subst" "0.000661881" "00645" "BMPR1A_000052" "g.88681437C>T" "" "{PMID:Howe 2004:15235019}, {DOI:Howe 2004:10.1136/jmg.2004.018598}" "" "" "ACMG PP3" "Germline" "" "rs35619497" "0" "" "" "g.86921680C>T" "" "VUS" "ACMG" "0000454477" "0" "59" "10" "88676950" "88676951" "delins" "0" "00645" "BMPR1A_000019" "g.88676950_88676951delinsAT" "" "{PMID:Howe 2008:18262054}, {DOI:Howe 2008:10.1016/j.cancergencyto.2007.11.001}" "" "732-6 TG>AT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917193_86917194delinsAT" "" "VUS" "ACMG" "0000454478" "0" "59" "10" "88676950" "88676951" "delins" "0" "00645" "BMPR1A_000019" "g.88676950_88676951delinsAT" "" "{PMID:Howe 2008:18262054}, {DOI:Howe 2008:10.1016/j.cancergencyto.2007.11.001}" "" "733-6 TG>AT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917193_86917194delinsAT" "" "VUS" "ACMG" "0000454479" "0" "59" "10" "88676950" "88676951" "delins" "0" "00645" "BMPR1A_000019" "g.88676950_88676951delinsAT" "" "{PMID:Howe 2008:18262054}, {DOI:Howe 2008:10.1016/j.cancergencyto.2007.11.001}" "" "734-6 TG>AT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917193_86917194delinsAT" "" "VUS" "ACMG" "0000454480" "0" "59" "10" "88649809" "88649833" "del" "0" "00645" "BMPR1A_000114" "g.88649809_88649833del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "" "ACMG PVS1, PM4, PM2, PP3\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454481" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454482" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454483" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454484" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454485" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454486" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454487" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454488" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454489" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454490" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454491" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454492" "0" "55" "10" "88651917" "88651919" "del" "0" "00645" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454493" "0" "55" "10" "88651917" "88651919" "del" "0" "00006" "BMPR1A_000039" "g.88651917_88651919del" "" "{PMID:Nieminen 2011:21640116}, {DOI:Nieminen 2011:10.1053/j.gastro.2011.03.063}" "" "264_266delAGA" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.86892160_86892162del" "" "VUS" "ACMG" "0000454494" "0" "99" "10" "88649821" "88649821" "subst" "0" "00645" "BMPR1A_000061" "g.88649821C>T" "" "{PMID:O\'Riordan 2010:19438883}, {DOI:O\'Riordan 2010:10.1111/j.1463-1318.2009.01931.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86890064C>T" "" "pathogenic" "ACMG" "0000454495" "0" "99" "10" "88649821" "88649821" "subst" "0" "00645" "BMPR1A_000061" "g.88649821C>T" "" "{PMID:O\'Riordan 2010:19438883}, {DOI:O\'Riordan 2010:10.1111/j.1463-1318.2009.01931.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86890064C>T" "" "pathogenic" "ACMG" "0000454496" "0" "99" "10" "88649821" "88649821" "subst" "0" "00645" "BMPR1A_000061" "g.88649821C>T" "" "{PMID:O\'Riordan 2010:19438883}, {DOI:O\'Riordan 2010:10.1111/j.1463-1318.2009.01931.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86890064C>T" "" "pathogenic" "ACMG" "0000454497" "0" "99" "10" "88649821" "88649821" "subst" "0" "00645" "BMPR1A_000061" "g.88649821C>T" "" "{PMID:O\'Riordan 2010:19438883}, {DOI:O\'Riordan 2010:10.1111/j.1463-1318.2009.01931.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86890064C>T" "" "pathogenic" "ACMG" "0000454498" "0" "99" "10" "88649821" "88649821" "subst" "0" "00645" "BMPR1A_000061" "g.88649821C>T" "" "{PMID:O\'Riordan 2010:19438883}, {DOI:O\'Riordan 2010:10.1111/j.1463-1318.2009.01931.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86890064C>T" "" "pathogenic" "ACMG" "0000454499" "0" "99" "10" "88649821" "88649821" "subst" "0" "00645" "BMPR1A_000061" "g.88649821C>T" "" "{PMID:O\'Riordan 2010:19438883}, {DOI:O\'Riordan 2010:10.1111/j.1463-1318.2009.01931.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86890064C>T" "" "pathogenic" "ACMG" "0000454500" "0" "99" "10" "88649821" "88649821" "subst" "0" "00645" "BMPR1A_000061" "g.88649821C>T" "" "{PMID:O\'Riordan 2010:19438883}, {DOI:O\'Riordan 2010:10.1111/j.1463-1318.2009.01931.x}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86890064C>T" "" "pathogenic" "ACMG" "0000454501" "0" "59" "10" "88672140" "88672140" "del" "0" "00645" "BMPR1A_000016" "g.88672140del" "" "{PMID:Pyatt 2006:16436638}, {DOI:Pyatt 2006:10.2353/jmoldx.2006.050072}" "" "674delT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86912383del" "" "VUS" "ACMG" "0000454502" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "44-47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454503" "0" "59" "10" "88676930" "88676930" "subst" "0" "00645" "BMPR1A_000018" "g.88676930C>T" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476084" "0" "" "" "g.86917173C>T" "" "VUS" "ACMG" "0000454504" "0" "59" "10" "88677027" "88677027" "subst" "0" "00645" "BMPR1A_000021" "g.88677027G>A" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs199476085" "0" "" "" "g.86917270G>A" "" "VUS" "ACMG" "0000454505" "0" "59" "10" "88679021" "88679021" "del" "0" "00645" "BMPR1A_000029" "g.88679021del" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "961delC" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86919264del" "" "VUS" "ACMG" "0000454506" "0" "55" "10" "88679073" "88679073" "subst" "0" "00645" "BMPR1A_000031" "g.88679073C>A" "" "{PMID:Sayed 2002:12417513}, {DOI:Sayed 2002:10.1245/ASO.2002.03.021}" "" "" "ACMG PM2, PP3" "De novo" "" "rs199476086" "0" "" "" "g.86919316C>A" "" "VUS" "ACMG" "0000454507" "0" "59" "10" "0" "0" "" "0" "00645" "BMPR1A_000105" "g.(?_88490000_89750000_?)del" "" "{PMID:Sweet 2005:16287957}, {DOI:Sweet 2005:10.1001/jama.294.19.2465}" "" "hemizygous del BMPR1A and PTEN" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454508" "0" "55" "10" "88682293" "88684945" "del" "0" "00645" "BMPR1A_000134" "g.(88681453_88683132)_(88684945_?)del" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2008:10.1136/gut.2007.142927}" "" "hemizygous deletion" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454509" "0" "55" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2008:10.1136/gut.2007.142927}" "" "hemizygous deletion" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454510" "0" "55" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2008:10.1136/gut.2007.142927}" "" "hemizygous deletion" "ACMG PVS1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454511" "0" "59" "10" "88679121" "88679121" "del" "0" "00645" "BMPR1A_000044" "g.88679121del" "" "{PMID:van Hattem 2008:18178612}, {DOI:van Hattem 2008:10.1136/gut.2007.142927}" "" "1061delG" "ACMG PM2, PP3, PM4, PM5" "Germline" "" "" "0" "" "" "g.86919364del" "" "VUS" "ACMG" "0000454512" "0" "59" "10" "88676999" "88677020" "del" "0" "00645" "BMPR1A_000127" "g.88676999_88677020del" "" "{DOI:Zhou 2001:10.1086/323703}" "" "784-805del22" "ACMG PVS1, PM2, PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.86917242_86917263del" "" "VUS" "ACMG" "0000454513" "0" "59" "10" "88516396" "88557649" "del" "0" "00645" "BMPR1A_000108" "g.(?_88516396)_(88516677_88598621)del" "" "{DOI:Barros 2009:10.1007/s00418-009-0579-z}" "" "del promotor_first non-coding exon" "ACMG PVS1, PS2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454514" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454515" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454516" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454517" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454518" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454519" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454520" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454521" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454522" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454523" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454524" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454525" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454526" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454527" "0" "99" "10" "88516396" "88617180" "del" "0" "00645" "BMPR1A_000109" "g.(?_88516396)_(88598737_88635623)del" "" "{DOI:Calva-Cerqueira 2010:10.1093/hmg/ddq396}" "" "del promotor B_ex2" "ACMG PVS1, PP1-S" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454528" "0" "59" "10" "88635752" "88635762" "del" "0" "00645" "BMPR1A_000113" "g.88635752_88635762del" "" "{DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "ex2 11 bp del" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.86875995_86876005del" "" "VUS" "ACMG" "0000454529" "0" "59" "10" "88635752" "88635762" "del" "0" "00645" "BMPR1A_000113" "g.88635752_88635762del" "" "{DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "ex2 11 bp del" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.86875995_86876005del" "" "VUS" "ACMG" "0000454530" "0" "59" "10" "88635752" "88635762" "del" "0" "00645" "BMPR1A_000113" "g.88635752_88635762del" "" "{DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "ex2 11 bp del" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.86875995_86876005del" "" "VUS" "ACMG" "0000454531" "0" "59" "10" "88681548" "88686606" "del" "0" "00645" "BMPR1A_000133" "g.88681548_88686606del" "" "{DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "del ex10-11" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.86921791_86926849del" "" "VUS" "ACMG" "0000454532" "0" "59" "10" "88516396" "88642831" "del" "0" "00645" "BMPR1A_000110" "g.(?_88516396)_(88635843_88649818)del" "" "{DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "5\'UTR - Exon 1 del" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454533" "0" "59" "10" "88681548" "88686606" "del" "0" "00645" "BMPR1A_000133" "g.88681548_88686606del" "" "{DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "del ex10-11" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.86921791_86926849del" "" "VUS" "ACMG" "0000454534" "0" "59" "10" "88681548" "88686606" "del" "0" "00645" "BMPR1A_000133" "g.88681548_88686606del" "" "{DOI:Cheah 2009:10.1038/ajg.2009.542}" "" "del ex10-11" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.86921791_86926849del" "" "VUS" "ACMG" "0000454535" "0" "99" "10" "88681438" "88681438" "subst" "0" "00645" "BMPR1A_000132" "g.88681438G>A" "" "{DOI:Chubb 2015:10.1200/jco.2014.56.5689}" "" "" "ACMG PM2, PS2, PP3, PP5" "De novo" "" "" "0" "" "" "g.86921681G>A" "" "pathogenic" "ACMG" "0000454536" "0" "99" "10" "0" "0" "" "0" "00645" "BMPR1A_000105" "(?_88450000)_(89750000_?)del" "" "{PMID:Delnatte 2006:16685657}" "" ">1.2Mb del BMPR1A/PTEN" "patient also carries 46,XX,t(2;10)(q31;p15)\r\n(?_88450000)_(89750000_?)del" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000454537" "0" "99" "10" "0" "0" "" "0" "00645" "BMPR1A_000105" "g.(97000001_99300000)_qterdelins[NC_000009.11:pter_(4600001_9000000)inv]" "" "{PMID:Zigman 1997:09352843}" "" "" "ACMG PVS1, PS2" "De novo" "" "" "0" "" "46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2)" "" "" "pathogenic" "ACMG" "0000454538" "0" "99" "10" "84950001" "100600001" "del" "0" "00645" "BMPR1A_000105" "g.(82000001_87900000)_(99300001_101900000)del" "" "{PMID:Zigman 1997:09352843}" "" "46,XX,del(10)(q23.1q24.2)" "ACMG PVS1, PS2\r\n82000001_101900000" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454539" "0" "99" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Dadaleh 2012:10.1111/j.1399-0004.2011.01763.x}" "" "46,XY,del(10)(q23.2q24.1)" "ACMG PVS1, PS2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454540" "0" "99" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Dadaleh 2012:10.1111/j.1399-0004.2011.01763.x}" "" "46,XX.ish del(10)(q23.2q23.3)" "ACMG PVS1, PS2" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454541" "0" "99" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Dadaleh 2012:10.1111/j.1399-0004.2011.01763.x}" "" "46,XX.ish del(10)(q23.2q23.3)" "ACMG PVS1, PS2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454542" "0" "99" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Dadaleh 2012:10.1111/j.1399-0004.2011.01763.x}" "" "46,XY.ish del(10)(q23.2q23.3)" "ACMG PVS1, PS2" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454543" "0" "59" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Hiljadnikova Bajro 2013:10.1007/s13353-012-0115-z}" "" "10q23 deletion" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454544" "0" "99" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Jacoby 1997:10.1002/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W}" "" "del(10)(q.22.3q.24.1)" "ACMG PVS1, PM2" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000454545" "0" "15" "10" "88659877" "88659877" "subst" "0.0000122114" "00645" "BMPR1A_000122" "g.88659877G>A" "" "{DOI:Jelsig 2016:10.1080/00365521.2016.1174880}" "" "" "ACMG PP3, BP6" "Germline" "" "" "0" "" "" "g.86900120G>A" "" "benign" "ACMG" "0000454546" "0" "55" "10" "88681437" "88681437" "subst" "0.000661881" "00645" "BMPR1A_000052" "g.88681437C>T" "" "{DOI:Jelsig 2016:10.1080/00365521.2016.1174880}" "" "" "ACMG PP3, BP6" "Germline" "" "" "0" "" "" "g.86921680C>T" "" "VUS" "ACMG" "0000454547" "0" "55" "10" "88651886" "88651886" "subst" "0" "00645" "BMPR1A_000035" "g.88651886C>T" "" "{DOI:Kurland 2007:10.1097/MPG.0b013e31802e98e5}" "" "missense C to T (T78I) mutation at codon 233" "ACMG PM2, PP1-M, PP3" "Germline" "" "" "0" "" "" "g.86892129C>T" "" "VUS" "ACMG" "0000454548" "0" "55" "10" "88651886" "88651886" "subst" "0" "00645" "BMPR1A_000035" "g.88651886C>T" "" "{DOI:Kurland 2007:10.1097/MPG.0b013e31802e98e5}" "" "missense C to T (T78I) mutation at codon 233" "ACMG PM2, PP1-M, PP3" "Germline" "" "" "0" "" "" "g.86892129C>T" "" "VUS" "ACMG" "0000454549" "0" "55" "10" "88651886" "88651886" "subst" "0" "00645" "BMPR1A_000035" "g.88651886C>T" "" "{DOI:Kurland 2007:10.1097/MPG.0b013e31802e98e5}" "" "missense C to T (T78I) mutation at codon 233" "ACMG PM2, PP1-M, PP3" "Germline" "" "" "0" "" "" "g.86892129C>T" "" "VUS" "ACMG" "0000454550" "0" "55" "10" "88651886" "88651886" "subst" "0" "00645" "BMPR1A_000035" "g.88651886C>T" "" "{DOI:Kurland 2007:10.1097/MPG.0b013e31802e98e5}" "" "missense C to T (T78I) mutation at codon 233" "ACMG PM2, PP1-M, PP3" "Germline" "" "" "0" "" "" "g.86892129C>T" "" "VUS" "ACMG" "0000454551" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454552" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454553" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454554" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454555" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454556" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454557" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454558" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454559" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454560" "0" "55" "10" "88649921" "88649921" "subst" "0.0000040624" "00645" "BMPR1A_000033" "g.88649921C>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890164C>G" "" "VUS" "ACMG" "0000454561" "0" "55" "10" "88649935" "88649935" "subst" "0" "00645" "BMPR1A_000034" "g.88649935T>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890178T>G" "" "VUS" "ACMG" "0000454562" "0" "55" "10" "88649935" "88649935" "subst" "0" "00645" "BMPR1A_000034" "g.88649935T>G" "" "{DOI:Lynch 2004:10.1016/s0165-4608(03)00280-2}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86890178T>G" "" "VUS" "ACMG" "0000454563" "0" "59" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Menko 2008:10.1111/j.1399-0004.2008.01026.x}" "" "46,XY.ish del(10)(q23.2q23.31)" "ACMG PVS1, PS2" "De novo" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454564" "0" "59" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Menko 2008:10.1111/j.1399-0004.2008.01026.x}" "" "46,XY.ish del(10)(q23.2q24.31)" "ACMG PVS1, PS2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454565" "0" "59" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Menko 2008:10.1111/j.1399-0004.2008.01026.x}" "" "46,XX.ish del(10)(q23.2q23.31)" "ACMG PVS1, PS2" "De novo" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454566" "0" "59" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Menko 2008:10.1111/j.1399-0004.2008.01026.x}" "" "46,XY.ish del(10)(q23.2q23.31)" "ACMG PVS1, PS2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454567" "0" "99" "10" "88649969" "88649969" "dup" "0" "00645" "BMPR1A_000116" "g.88649969dup" "" "{DOI:Mongin 2012:10.1111/j.1399-0004.2011.01676.x}" "" "218dupA" "ACMG PVS1, PM2, PM4, PP3, PP5" "Germline" "" "" "0" "" "" "g.86890212dup" "" "pathogenic" "ACMG" "0000454568" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454569" "0" "59" "10" "88635819" "88635822" "del" "0" "00645" "BMPR1A_000060" "g.88635819_88635822del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "44_47delTGTT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86876062_86876065del" "" "VUS" "ACMG" "0000454570" "0" "59" "10" "88649927" "88649927" "del" "0" "00645" "BMPR1A_000115" "g.88649927del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "176delT" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86890170del" "" "VUS" "ACMG" "0000454571" "0" "55" "10" "88659576" "88659576" "subst" "0" "00645" "BMPR1A_000118" "g.88659576G>C" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.86899819G>C" "" "VUS" "ACMG" "0000454572" "0" "55" "10" "88659590" "88659590" "subst" "0" "00645" "BMPR1A_000119" "g.88659590T>G" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.86899833T>G" "" "VUS" "ACMG" "0000454573" "0" "55" "10" "88659602" "88659602" "subst" "0" "00645" "BMPR1A_000120" "g.88659602T>A" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.86899845T>A" "" "VUS" "ACMG" "0000454574" "0" "59" "10" "88659881" "88659881" "subst" "0" "00645" "BMPR1A_000123" "g.88659881G>A" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PVS1, PM4, 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" "0000454575" "0" "59" "10" "88676897" "88676897" "subst" "0" "00645" "BMPR1A_000017" "g.88676897C>T" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917140C>T" "" "VUS" "ACMG" "0000454576" "0" "59" "10" "88676912" "88676912" "subst" "0" "00645" "BMPR1A_000125" "g.88676912C>T" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917155C>T" "" "VUS" "ACMG" "0000454577" "0" "59" "10" "88676984" "88676984" "subst" "0" "00645" "BMPR1A_000126" "g.88676984A>T" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.86917227A>T" "" "VUS" "ACMG" "0000454578" "0" "59" "10" "88665940" "88684945" "del" "0" "00645" "BMPR1A_000124" "g.(88659884_88671996)_(88684945_?)del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "531-?_1599+?del" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454579" "0" "59" "10" "88665940" "88684945" "del" "0" "00645" "BMPR1A_000124" "g.(88659884_88671996)_(88684945_?)del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "531-?_1599+?del" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454580" "0" "55" "10" "88678932" "88678932" "subst" "0" "00645" "BMPR1A_000128" "g.88678932T>C" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86919175T>C" "" "VUS" "ACMG" "0000454581" "0" "55" "10" "88681352" "88681352" "subst" "0" "00645" "BMPR1A_000131" "g.88681352G>A" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG 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" "0000454582" "0" "55" "10" "88681352" "88681352" "subst" "0" "00645" "BMPR1A_000131" "g.88681352G>A" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG 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" "0000454583" "0" "55" "10" "88681352" "88681352" "subst" "0" "00645" "BMPR1A_000131" "g.88681352G>A" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG 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" "0000454584" "0" "55" "10" "88681437" "88681437" "subst" "0.000661881" "00645" "BMPR1A_000052" "g.88681437C>T" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PP3, PP5" "Germline" "" "" "0" "" "" "g.86921680C>T" "" "VUS" "ACMG" "0000454585" "0" "59" "10" "88683357" "88683357" "subst" "0" "00645" "BMPR1A_000135" "g.88683357C>T" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs786201040" "0" "" "" "g.86923600C>T" "" "VUS" "ACMG" "0000454586" "0" "59" "10" "88683357" "88683357" "subst" "0" "00645" "BMPR1A_000135" "g.88683357C>T" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "" "ACMG PVS1, PM2, PM4, PP3" "Germline" "" "rs786201040" "0" "" "" "g.86923600C>T" "" "VUS" "ACMG" "0000454587" "0" "59" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Ngeow 2013:10.1053/j.gastro.2013.02.001}" "" "1-?_1599del?" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454588" "0" "55" "10" "88679015" "88679015" "subst" "0" "00645" "BMPR1A_000129" "g.88679015T>C" "" "{DOI:Pearlman 2016:10.1001/jamaoncol.2016.5194}" "" "" "ACMG 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" "0000454589" "0" "55" "10" "88679118" "88679118" "subst" "0" "00645" "BMPR1A_000130" "g.88679118A>G" "" "{DOI:Pearlman 2016:10.1001/jamaoncol.2016.5194}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.86919361A>G" "" "VUS" "ACMG" "0000454590" "0" "55" "10" "88683223" "88683223" "subst" "0.000166485" "00645" "BMPR1A_000005" "g.88683223G>A" "" "{DOI:Pearlman 2016:10.1001/jamaoncol.2016.5194}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "g.86923466G>A" "" "VUS" "ACMG" "0000454591" "0" "59" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Salviati 2006:10.1086/507151}" "" "46,XX del(10)(q22.3q23.33)dn" "ACMG PVS1, PM2, PS2" "De novo" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454592" "0" "59" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Septer 2013:10.3748/wjg.v19.i14.2286}" "" "10q23del and 1p31.3del" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454593" "0" "59" "10" "88516396" "88684945" "del" "0" "00645" "BMPR1A_000111" "g.(?_88516396)_(88684945_?)del" "" "{DOI:Tsuchiya 1998:10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3}" "" "del(10)(q23.2q23.33)" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000454594" "0" "99" "10" "88650433" "88652427" "dup" "0" "00645" "BMPR1A_000117" "g.88650433_88652427dup" "" "{DOI:Yamaguchi 2014:10.1093/jjco/hyu111}" "" "(230+452_333+441dup1995)" "ACMG PVS1, PM2, PM4, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.86890676_86892670dup" "" "pathogenic" "ACMG" "0000454891" "0" "90" "10" "88679141" "88679141" "subst" "0.00000406769" "00006" "BMPR1A_000047" "g.88679141C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.86919384C>T" "" "pathogenic (dominant)" "" "0000454892" "0" "90" "10" "88397644" "88642831" "del" "0" "00006" "BMPR1A_000106" "g.(?_88397644)_(88635843_88649818)del" "" "{PMID:Aretz 2007:17873119}" "" "‐119300‐?_67+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000454893" "0" "90" "10" "88617180" "88642831" "del" "0" "00006" "BMPR1A_000112" "g.(88598737_88635623)_(88635843_88649818)del" "" "{PMID:Aretz 2007:17873119}" "" "‐50‐?_67+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000454894" "0" "90" "10" "88679070" "88679070" "subst" "0" "00006" "BMPR1A_000030" "g.88679070C>G" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.86919313C>G" "" "pathogenic (dominant)" "" "0000454895" "0" "90" "10" "88659566" "88659566" "subst" "0" "00006" "BMPR1A_000040" "g.88659566C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.86899809C>T" "" "pathogenic (dominant)" "" "0000454896" "0" "90" "10" "88659605" "88659605" "subst" "0" "00006" "BMPR1A_000010" "g.88659605T>C" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.86899848T>C" "" "pathogenic (dominant)" "" "0000454897" "0" "90" "10" "88659718" "88659782" "del" "0" "00006" "BMPR1A_000121" "g.88659718_88659782del" "" "{PMID:Aretz 2007:17873119}" "" "432‐2_‐66del" "" "Germline" "" "" "0" "" "" "g.86899961_86900025del" "" "pathogenic (dominant)" "" "0000454898" "0" "90" "10" "88672049" "88672049" "subst" "0" "00006" "BMPR1A_000014" "g.88672049C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.86912292C>T" "" "pathogenic (dominant)" "" "0000454899" "0" "90" "10" "88676897" "88676897" "subst" "0" "00006" "BMPR1A_000017" "g.88676897C>T" "" "{PMID:Aretz 2007:17873119}" "" "" "" "Germline" "" "" "0" "" "" "g.86917140C>T" "" "pathogenic (dominant)" "" "0000454900" "0" "90" "10" "88678948" "88678948" "del" "0" "00006" "BMPR1A_000027" "g.88678948del" "" "{PMID:Aretz 2007:17873119}" "" "888delT" "" "Germline" "" "" "0" "" "" "g.86919191del" "" "pathogenic (dominant)" "" "0000454901" "0" "90" "10" "88397644" "89728532" "del" "0" "00006" "BMPR1A_000107" "g.(?_88397644)_(89728532_?)del" "" "{PMID:Aretz 2007:17873119}" "" "BMPR1A,‐119300‐?_1599+?del + PTEN,1‐?_1212+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000541317" "0" "30" "10" "88515867" "88515867" "subst" "0" "02330" "BMPR1A_000136" "g.88515867T>C" "" "" "" "BMPR1A(NM_004329.2):c.-1077T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756110T>C" "" "likely benign" "" "0000541318" "0" "10" "10" "88515881" "88515881" "subst" "0" "02330" "BMPR1A_000137" "g.88515881G>C" "" "" "" "BMPR1A(NM_004329.2):c.-1063G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756124G>C" "" "benign" "" "0000541319" "0" "10" "10" "88515966" "88515966" "subst" "0" "02330" "BMPR1A_000138" "g.88515966G>A" "" "" "" "BMPR1A(NM_004329.2):c.-978G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756209G>A" "" "benign" "" "0000541320" "0" "10" "10" "88516010" "88516010" "subst" "0" "02330" "BMPR1A_000139" "g.88516010G>A" "" "" "" "BMPR1A(NM_004329.2):c.-934G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756253G>A" "" "benign" "" "0000541321" "0" "30" "10" "88516068" "88516068" "subst" "0" "02330" "BMPR1A_000140" "g.88516068G>T" "" "" "" "BMPR1A(NM_004329.2):c.-876G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756311G>T" "" "likely benign" "" "0000541322" "0" "10" "10" "88516090" "88516090" "subst" "0" "02330" "BMPR1A_000141" "g.88516090G>C" "" "" "" "BMPR1A(NM_004329.2):c.-854G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756333G>C" "" "benign" "" "0000541323" "0" "10" "10" "88516170" "88516170" "subst" "0" "02330" "BMPR1A_000142" "g.88516170T>G" "" "" "" "BMPR1A(NM_004329.2):c.-774T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756413T>G" "" "benign" "" "0000541324" "0" "30" "10" "88516286" "88516286" "subst" "0" "02330" "BMPR1A_000143" "g.88516286C>T" "" "" "" "BMPR1A(NM_004329.2):c.-658C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756529C>T" "" "likely benign" "" "0000541325" "0" "10" "10" "88516342" "88516342" "subst" "0" "02330" "BMPR1A_000144" "g.88516342C>T" "" "" "" "BMPR1A(NM_004329.2):c.-602C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756585C>T" "" "benign" "" "0000541326" "0" "30" "10" "88516397" "88516397" "subst" "0" "02330" "BMPR1A_000145" "g.88516397C>T" "" "" "" "BMPR1A(NM_004329.2):c.-547C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756640C>T" "" "likely benign" "" "0000541327" "0" "30" "10" "88649949" "88649949" "subst" "0.00000812401" "02330" "BMPR1A_000146" "g.88649949C>T" "" "" "" "BMPR1A(NM_004329.2):c.198C>T (p.H66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86890192C>T" "" "likely benign" "" "0000541328" "0" "50" "10" "88659636" "88659636" "subst" "0" "02330" "BMPR1A_000147" "g.88659636C>T" "" "" "" "BMPR1A(NM_004329.2):c.419C>T (p.P140L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86899879C>T" "" "VUS" "" "0000541329" "0" "50" "10" "88659652" "88659652" "subst" "0" "02327" "BMPR1A_000148" "g.88659652G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86899895G>A" "" "VUS" "" "0000541330" "0" "10" "10" "88659758" "88659758" "subst" "0.0302976" "02327" "BMPR1A_000002" "g.88659758T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86900001T>A" "" "benign" "" "0000541331" "0" "10" "10" "88671938" "88671938" "subst" "0" "02327" "BMPR1A_000149" "g.88671938T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86912181T>C" "" "benign" "" "0000541332" "0" "30" "10" "88671946" "88671946" "subst" "0" "02327" "BMPR1A_000150" "g.88671946G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86912189G>A" "" "likely benign" "" "0000541333" "0" "30" "10" "88671975" "88671975" "subst" "0.0000937146" "02327" "BMPR1A_000151" "g.88671975T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86912218T>C" "" "likely benign" "" "0000541334" "0" "30" "10" "88676992" "88676992" "subst" "0.000810895" "01943" "BMPR1A_000152" "g.88676992G>A" "" "" "" "BMPR1A(NM_004329.2):c.777G>A (p.A259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86917235G>A" "" "likely benign" "" "0000541335" "0" "90" "10" "88677032" "88677032" "subst" "0" "02325" "BMPR1A_000022" "g.88677032C>T" "" "" "" "BMPR1A(NM_004329.2):c.817C>T (p.R273*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86917275C>T" "" "pathogenic" "" "0000541336" "0" "90" "10" "88681275" "88681275" "subst" "0" "02327" "BMPR1A_000153" "g.88681275A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86921518A>G" "" "pathogenic" "" "0000541337" "0" "50" "10" "88681353" "88681353" "subst" "0.000869021" "01943" "BMPR1A_000154" "g.88681353G>A" "" "" "" "BMPR1A(NM_004329.2):c.1243G>A (p.E415K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86921596G>A" "" "VUS" "" "0000541338" "0" "30" "10" "88681437" "88681437" "subst" "0.000661881" "02327" "BMPR1A_000052" "g.88681437C>T" "" "" "" "BMPR1A(NM_004329.2):c.1327C>T (p.R443C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86921680C>T" "" "likely benign" "" "0000541339" "0" "30" "10" "88683209" "88683209" "subst" "0.00107607" "02330" "BMPR1A_000155" "g.88683209T>G" "" "" "" "BMPR1A(NM_004329.2):c.1419T>G (p.V473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86923452T>G" "" "likely benign" "" "0000541340" "0" "10" "10" "88683437" "88683437" "subst" "0.000316759" "02329" "BMPR1A_000156" "g.88683437G>A" "" "" "" "BMPR1A(NM_004329.2):c.1560G>A (p.T520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86923680G>A" "" "benign" "" "0000578327" "0" "50" "10" "88676933" "88676933" "subst" "0.00000406138" "01164" "BMPR1A_000157" "g.88676933G>A" "" "" "" "" "ACMG grading: PM2" "Germline" "" "" "0" "" "" "g.86917176G>A" "" "VUS" "ACMG" "0000595717" "0" "50" "10" "88676945" "88676945" "subst" "0" "00727" "BMPR1A_000081" "g.88676945C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86917188C>T" "" "pathogenic" "" "0000612755" "0" "30" "10" "88516159" "88516159" "subst" "0" "02330" "BMPR1A_000158" "g.88516159T>C" "" "" "" "BMPR1A(NM_004329.2):c.-785T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86756402T>C" "" "likely benign" "" "0000612756" "0" "50" "10" "88677008" "88677008" "subst" "0" "02330" "BMPR1A_000160" "g.88677008A>T" "" "" "" "BMPR1A(NM_004329.2):c.793A>T (p.T265S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86917251A>T" "" "VUS" "" "0000612757" "0" "50" "10" "88683436" "88683436" "subst" "0.00000406101" "02327" "BMPR1A_000161" "g.88683436C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86923679C>T" "" "VUS" "" "0000622446" "0" "30" "10" "88677004" "88677004" "subst" "0.0000122223" "02330" "BMPR1A_000159" "g.88677004C>T" "" "" "" "BMPR1A(NM_004329.2):c.789C>T (p.F263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86917247C>T" "" "likely benign" "" "0000622447" "0" "70" "10" "88683228" "88683228" "subst" "0" "02330" "BMPR1A_000055" "g.88683228C>T" "" "" "" "BMPR1A(NM_004329.2):c.1438C>T (p.R480W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86923471C>T" "" "likely pathogenic" "" "0000648021" "1" "50" "10" "88659572" "88659572" "subst" "0" "03575" "BMPR1A_000008" "g.88659572C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs587782494}" "Germline" "" "rs587782494" "0" "" "" "g.86899815C>T" "" "VUS" "" "0000659689" "0" "50" "10" "88659852" "88659852" "subst" "0.0000650227" "01164" "BMPR1A_000088" "g.88659852A>G" "" "" "" "" "gastric cancer, diffuse , MSI stable, expression of all 4 MMR proteins; Yurgelun et al. 2015. Gastroenterology 149: 604-13 .e20" "Germline" "" "rs200951235" "0" "" "" "g.86900095A>G" "" "VUS" "ACMG" "0000690813" "0" "30" "10" "88672158" "88672158" "subst" "0.00000406395" "02327" "BMPR1A_000162" "g.88672158T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690814" "0" "50" "10" "88679060" "88679060" "subst" "0.0000040657" "02327" "BMPR1A_000163" "g.88679060T>A" "" "" "" "BMPR1A(NM_004329.2):c.1000T>A (p.L334M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690815" "0" "50" "10" "88679129" "88679129" "subst" "0.000012203" "02327" "BMPR1A_000164" "g.88679129G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690816" "0" "30" "10" "88679149" "88679149" "subst" "0" "02327" "BMPR1A_000165" "g.88679149A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699784" "0" "50" "10" "" "" "" "" "00006" "CYP2C9_001038" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000722988" "0" "50" "10" "88679060" "88679060" "subst" "0.0000040657" "02330" "BMPR1A_000163" "g.88679060T>A" "" "" "" "BMPR1A(NM_004329.2):c.1000T>A (p.L334M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804597" "0" "10" "10" "88681458" "88681458" "subst" "0.00567273" "02329" "BMPR1A_000085" "g.88681458A>G" "" "" "" "BMPR1A(NM_004329.2):c.1342+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000828286" "11" "50" "10" "88681353" "88681353" "subst" "0.000869021" "00006" "BMPR1A_000154" "g.88681353G>A" "" "{PMID:Joziasse 2011:21248739}" "" "Glu415Lys" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000828289" "0" "50" "10" "88681353" "88681353" "subst" "0.000869021" "00006" "BMPR1A_000154" "g.88681353G>A" "" "{PMID:Joziasse 2011:21248739}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000845011" "0" "90" "10" "88651883" "88651883" "subst" "0" "00006" "BMPR1A_000166" "g.88651883G>A" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86892126G>A" "" "pathogenic" "" "0000852612" "0" "10" "10" "88659788" "88659788" "subst" "0.0103564" "02326" "BMPR1A_000070" "g.88659788G>A" "" "" "" "BMPR1A(NM_004329.2):c.435G>A (p.P145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852613" "0" "30" "10" "88672029" "88672029" "subst" "0.0000325045" "02327" "BMPR1A_000167" "g.88672029G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862023" "0" "10" "10" "88679200" "88679200" "subst" "0.0145892" "01804" "BMPR1A_000004" "g.88679200C>T" "" "" "" "BMPR1A(NM_004329.2):c.1140C>T (p.D380=, p.(Asp380=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862024" "0" "30" "10" "88683209" "88683209" "subst" "0.00107607" "02327" "BMPR1A_000155" "g.88683209T>G" "" "" "" "BMPR1A(NM_004329.2):c.1419T>G (p.V473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BMPR1A ## Count = 412 "{{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}}" "0000044478" "00003435" "50" "1379" "0" "1379" "0" "c.1379T>C" "r.(?)" "p.(Met460Thr)" "" "0000062037" "00003435" "10" "1140" "0" "1140" "0" "c.1140C>T" "r.(=)" "p.(=)" "" "0000062038" "00003435" "50" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478His)" "" "0000062039" "00003435" "10" "-25" "0" "-25" "0" "c.-25A>G" "r.(=)" "p.(=)" "" "0000062040" "00003435" "50" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Cys100Tyr)" "" "0000062041" "00003435" "10" "431" "-26" "431" "-26" "c.431-26T>A" "r.(=)" "p.(=)" "" "0000062042" "00003435" "90" "524" "0" "525" "0" "c.524_525dup" "r.(?)" "p.(Tyr176Valfs*32)" "" "0000078839" "00003435" "59" "1" "0" "1" "0" "c.1A>C" "r.0?" "p.0?" "3" "0000078840" "00003435" "99" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "4" "0000078841" "00003435" "99" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Gln195*)" "8" "0000078842" "00003435" "99" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Cys)" "6" "0000078843" "00003435" "55" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Thr78Ile)" "5" "0000078844" "00003435" "59" "262" "0" "262" "0" "c.262G>T" "r.(?)" "p.(Glu88*)" "5" "0000078845" "00003435" "99" "1409" "0" "1409" "0" "c.1409T>C" "r.(?)" "p.(Met470Thr)" "12" "0000078846" "00003435" "99" "370" "0" "370" "0" "c.370T>C" "r.(?)" "p.(Cys124Arg)" "6" "0000078847" "00003435" "99" "388" "0" "388" "0" "c.388T>C" "r.(?)" "p.(Cys130Arg)" "6" "0000078848" "00003435" "59" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Gln353*)" "10" "0000078849" "00003435" "59" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Gln117*)" "6" "0000078850" "00003435" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Pro410Leu)" "11" "0000078851" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000078852" "00003435" "55" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Glu411Lys)" "11" "0000078853" "00003435" "55" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Arg254His)" "9" "0000078854" "00003435" "55" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "4" "0000078855" "00003435" "59" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "9" "0000078856" "00003435" "99" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228*)" "9" "0000078857" "00003435" "55" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Arg480Trp)" "12" "0000078858" "00003435" "99" "1013" "0" "1013" "0" "c.1013C>A" "r.(?)" "p.(Ala338Asp)" "10" "0000078859" "00003435" "59" "567" "0" "567" "0" "c.567C>A" "r.(?)" "p.(Tyr189*)" "8" "0000078860" "00003435" "59" "1275" "0" "1275" "0" "c.1275C>A" "r.(?)" "p.(Tyr425*)" "11" "0000078861" "00003435" "99" "131" "0" "131" "0" "c.131C>G" "r.(?)" "p.(Ser44*)" "4" "0000078862" "00003435" "99" "1010" "0" "1010" "0" "c.1010C>G" "r.(?)" "p.(Ser337*)" "10" "0000078863" "00003435" "99" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273*)" "9" "0000078864" "00003435" "99" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361*)" "10" "0000078865" "00003435" "55" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Cys)" "11" "0000078866" "00003435" "55" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Cys82Tyr)" "5" "0000078867" "00003435" "99" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Cys376Tyr)" "10" "0000078868" "00003435" "59" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Trp271*)" "9" "0000078869" "00003435" "99" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Gly80Arg)" "5" "0000078870" "00003435" "99" "68" "-3" "68" "-3" "c.68-3C>G" "r.spl?" "p.?" "3i" "0000078871" "00003435" "99" "531" "-1" "531" "-1" "c.531-1G>T" "r.spl" "p.?" "7i" "0000078872" "00003435" "59" "67" "1" "67" "1" "c.67+1G>T" "r.spl" "p.?" "3i" "0000078873" "00003435" "55" "333" "5" "333" "5" "c.333+5G>C" "r.333_334ins[GTAAC;333+6_333_97]" "p.?" "5i" "0000078874" "00003435" "59" "431" "-1" "431" "-1" "c.431-1G>A" "r.spl" "p.?" "6i" "0000078875" "00003435" "59" "868" "1" "868" "1" "c.868+1G>A" "r.spl?" "p.?" "9i" "0000078876" "00003435" "99" "430" "2" "430" "2" "c.430+2T>C" "r.spl" "p.?" "" "0000078877" "00003435" "55" "531" "-2" "531" "-2" "c.531-2A>G" "r.spl" "p.?" "7i" "0000078878" "00003435" "59" "735" "0" "736" "0" "c.735_736delinsAT" "r.(?)" "p.(Tyr245*)" "9" "0000078879" "00003435" "59" "1061" "0" "1061" "0" "c.1061delinsCA" "r.(?)" "p.(Gly354Alafs*27)" "10" "0000078880" "00003435" "59" "353" "0" "353" "0" "c.353del" "r.(?)" "p.(Leu118Hisfs*5)" "6" "0000078881" "00003435" "99" "868" "2" "868" "3" "c.868+2_868+3del" "r.spl" "p.?" "9i" "0000078882" "00003435" "99" "419" "0" "420" "0" "c.419_420del" "r.(?)" "p.(Pro140Argfs*8)" "6" "0000078883" "00003435" "59" "1064" "0" "1064" "0" "c.1064del" "r.(?)" "p.(Lys355Serfs*9)" "10" "0000078884" "00003435" "59" "864" "0" "868" "2" "c.864_868+2del" "r.spl" "p.?" "9i" "0000078885" "00003435" "59" "864" "0" "868" "0" "c.864_868del" "r.(?)" "p.(Ile288Metfs*8)" "9" "0000078886" "00003435" "55" "1556" "0" "1558" "0" "c.1556_1558del" "r.(?)" "p.(Lys519del)" "13" "0000078887" "00003435" "99" "127" "0" "137" "0" "c.127_137del" "r.(?)" "p.(Lys43Trpfs*24)" "4" "0000078888" "00003435" "59" "1490" "0" "1490" "0" "c.1490del" "r.(?)" "p.(Leu497*)" "13" "0000078889" "00003435" "99" "888" "0" "888" "0" "c.888del" "r.(?)" "p.(Gly298Valfs*10)" "10" "0000078890" "00003435" "59" "674" "0" "674" "0" "c.674del" "r.(?)" "p.(Leu225Trpfs*36)" "8" "0000078891" "00003435" "59" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Leu321*)" "10" "0000078892" "00003435" "99" "1079" "0" "1081" "0" "c.1079_1081del" "r.(?)" "p.(His360del)" "10" "0000078893" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000078894" "00003435" "59" "1061" "0" "1061" "0" "c.1061del" "r.(?)" "p.(Gly354Glufs*10)" "10" "0000078895" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000078896" "00003435" "99" "826" "0" "827" "0" "c.826_827del" "r.(?)" "p.(Glu276Asnfs*10)" "9" "0000078897" "00003435" "59" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Ile449Metfs*49)" "12" "0000078898" "00003435" "59" "351" "0" "351" "0" "c.351dup" "r.(?)" "p.(Leu118Alafs*14)" "6" "0000078899" "00003435" "59" "920" "0" "921" "0" "c.920_921insAATT" "r.(?)" "p.(Thr309Aspfs*3)" "10" "0000078900" "00003435" "59" "405" "0" "405" "0" "c.405dup" "r.(?)" "p.(Pro136Thrfs*13)" "6" "0000078901" "00003435" "99" "665" "0" "665" "0" "c.665dup" "r.(?)" "p.(Pro223Thrfs*20)" "8" "0000148729" "00003435" "00" "74" "0" "74" "0" "c.74A>G" "r.(?)" "p.(Asn25Ser)" "" "0000148730" "00003435" "00" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Ser28Asn)" "" "0000148731" "00003435" "00" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "0000148733" "00003435" "00" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Cys)" "" "0000148734" "00003435" "00" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478His)" "" "0000148735" "00003435" "00" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Arg480Trp)" "" "0000246931" "00003435" "10" "1342" "6" "1342" "6" "c.1342+6A>G" "r.(=)" "p.(=)" "" "0000246945" "00003435" "30" "1368" "0" "1368" "0" "c.1368A>G" "r.(?)" "p.(Pro456=)" "" "0000254817" "00003435" "30" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Asn507Ser)" "" "0000258677" "00003435" "10" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Asp380=)" "" "0000258678" "00003435" "30" "1167" "-15" "1167" "-15" "c.1167-15T>G" "r.(=)" "p.(=)" "" "0000258679" "00003435" "10" "1299" "0" "1299" "0" "c.1299C>T" "r.(?)" "p.(Phe433=)" "" "0000258680" "00003435" "50" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Cys)" "" "0000258681" "00003435" "10" "1343" "-11" "1343" "-11" "c.1343-11T>C" "r.(=)" "p.(=)" "" "0000258682" "00003435" "10" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Pro145=)" "" "0000258683" "00003435" "10" "4" "0" "4" "0" "c.4C>A" "r.(?)" "p.(Pro2Thr)" "" "0000258684" "00003435" "10" "675" "12" "675" "12" "c.675+12G>A" "r.(=)" "p.(=)" "" "0000260406" "00003435" "10" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Asp380=)" "" "0000260407" "00003435" "50" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442His)" "" "0000260408" "00003435" "10" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Pro145=)" "" "0000260409" "00003435" "10" "675" "12" "675" "12" "c.675+12G>A" "r.(=)" "p.(=)" "" "0000263731" "00003435" "10" "1343" "-11" "1343" "-11" "c.1343-11T>C" "r.(=)" "p.(=)" "" "0000263732" "00003435" "10" "4" "0" "4" "0" "c.4C>A" "r.(?)" "p.(Pro2Thr)" "" "0000263733" "00003435" "50" "629" "0" "629" "0" "c.629T>C" "r.(?)" "p.(Ile210Thr)" "" "0000336847" "00003435" "10" "1342" "6" "1342" "6" "c.1342+6A>G" "r.(=)" "p.(=)" "" "0000338847" "00003435" "90" "431" "-2" "431" "-2" "c.431-2A>C" "r.spl?" "p.?" "" "0000338848" "00003435" "10" "675" "12" "675" "12" "c.675+12G>A" "r.(=)" "p.(=)" "" "0000338850" "00003435" "30" "1970" "0" "1970" "0" "c.*371C>T" "r.(=)" "p.(=)" "" "0000340513" "00003435" "10" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Pro145=)" "" "0000340514" "00003435" "10" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Asp380=)" "" "0000340744" "00003435" "30" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(Cys82=)" "" "0000342391" "00003435" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Ter)" "" "0000344435" "00003435" "90" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Cys63Ter)" "" "0000347716" "00003435" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000348360" "00003435" "10" "4" "0" "4" "0" "c.4C>A" "r.(?)" "p.(Pro2Thr)" "" "0000349767" "00003435" "90" "906" "0" "906" "0" "c.906G>A" "r.(?)" "p.(Trp302Ter)" "" "0000351412" "00003435" "10" "1343" "-11" "1343" "-11" "c.1343-11T>C" "r.(=)" "p.(=)" "" "0000357617" "00003435" "50" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Met167Val)" "7" "0000369631" "00003435" "90" "878" "0" "878" "0" "c.878C>T" "r.(?)" "p.(Ala293Val)" "" "0000408614" "00003435" "70" "1342" "1" "1342" "1" "c.1342+1G>T" "r.spl" "p.?" "" "0000408615" "00003435" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228*)" "" "0000408616" "00003435" "90" "1342" "1" "1342" "1" "c.1342+1G>T" "r.spl" "p.?" "" "0000408617" "00003435" "90" "67" "2" "67" "2" "c.67+2T>C" "r.spl?" "p.?" "" "0000408618" "00003435" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Gln91*)" "" "0000408619" "00003435" "90" "1235" "0" "1236" "0" "c.1235_1236dup" "r.(?)" "p.(Leu413Cysfs*6)" "" "0000408620" "00003435" "70" "67" "2" "67" "2" "c.67+2T>C" "r.spl?" "p.?" "" "0000454357" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454358" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454359" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454360" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454361" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454362" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454363" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454364" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454365" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454366" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454367" "00003435" "55" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Thr78Ile)" "5" "0000454368" "00003435" "55" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Cys82Tyr)" "5" "0000454369" "00003435" "59" "262" "0" "262" "0" "c.262G>T" "r.(?)" "p.(Glu88*)" "5" "0000454370" "00003435" "59" "262" "0" "262" "0" "c.262G>T" "r.(?)" "p.(Glu88*)" "5" "0000454371" "00003435" "59" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Gln117*)" "6" "0000454372" "00003435" "59" "353" "0" "353" "0" "c.353del" "r.(?)" "p.(Leu118Hisfs*5)" "6" "0000454373" "00003435" "59" "674" "0" "674" "0" "c.674del" "r.(?)" "p.(Leu225Trpfs*36)" "8" "0000454374" "00003435" "59" "715" "0" "715" "0" "c.715C>T" "r.(?)" 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"p.(Trp271*)" "9" "0000454386" "00003435" "59" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Trp271*)" "9" "0000454387" "00003435" "59" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Trp271*)" "9" "0000454388" "00003435" "59" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Trp271*)" "9" "0000454389" "00003435" "59" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Trp271*)" "9" "0000454390" "00003435" "59" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Trp271*)" "9" "0000454391" "00003435" "59" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Trp271*)" "9" "0000454392" "00003435" "59" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273*)" "9" "0000454393" "00003435" "59" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Leu321*)" "10" "0000454394" "00003435" "59" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Leu321*)" "10" "0000454395" "00003435" "59" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Leu321*)" "10" "0000454396" "00003435" "59" "961" "0" "961" "0" "c.961del" "r.(?)" 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"p.(Leu321*)" "10" "0000454471" "00003435" "59" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Leu321*)" "10" "0000454472" "00003435" "59" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Leu321*)" "10" "0000454473" "00003435" "59" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Leu321*)" "10" "0000454474" "00003435" "55" "1013" "0" "1013" "0" "c.1013C>A" "r.(?)" "p.(Ala338Asp)" "10" "0000454475" "00003435" "59" "1061" "0" "1061" "0" "c.1061del" "r.(?)" "p.(Gly354Glufs*10)" "10" "0000454476" "00003435" "55" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Cys)" "11" "0000454477" "00003435" "59" "735" "0" "736" "0" "c.735_736delinsAT" "r.(?)" "p.(Tyr245*)" "9" "0000454478" "00003435" "59" "735" "0" "736" "0" "c.735_736delinsAT" "r.(?)" "p.(Tyr245*)" "9" "0000454479" "00003435" "59" "735" "0" "736" "0" "c.735_736delinsAT" "r.(?)" "p.(Tyr245*)" "9" "0000454480" "00003435" "59" "68" "-10" "68" "14" "c.68-10_68+14del" "r.?" "p.?" "3i_4" "0000454481" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454482" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454483" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454484" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454485" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454486" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454487" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454488" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454489" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454490" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454491" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454492" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454493" "00003435" "55" "264" "0" "266" "0" "c.264_266del" "r.(?)" "p.(Glu88del)" "5" "0000454494" "00003435" "99" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "4" "0000454495" "00003435" "99" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "4" "0000454496" "00003435" "99" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "4" "0000454497" "00003435" "99" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "4" "0000454498" "00003435" "99" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "4" "0000454499" "00003435" "99" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "4" "0000454500" "00003435" "99" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24*)" "4" "0000454501" "00003435" "59" "674" "0" "674" "0" "c.674del" "r.(?)" "p.(Leu225Trpfs*36)" "8" "0000454502" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454503" "00003435" "59" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "9" "0000454504" "00003435" "59" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Trp271*)" "9" "0000454505" "00003435" "59" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Leu321*)" "10" "0000454506" "00003435" "55" "1013" "0" "1013" "0" "c.1013C>A" "r.(?)" "p.(Ala338Asp)" "10" "0000454507" "00003435" "59" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_13_" "0000454508" "00003435" "55" "1343" "0" "3068" "0" "c.(1342+1_1343-1)_(*1469_?)del" "r.?" "p.?" "11i_13_" "0000454509" "00003435" "55" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454510" "00003435" "55" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454511" "00003435" "59" "1061" "0" "1061" "0" "c.1061del" "r.(?)" "p.(Gly354Glufs*10)" "10" "0000454512" "00003435" "59" "784" "0" "805" "0" "c.784_805del" "r.(?)" "p.(Val262Profs*14)" "9" "0000454513" "00003435" "59" "-548" "0" "-268" "0" "c.(?_-548)_(-268+1_-267-1)del" "r.0?" "p.0?" "_1_1i" "0000454514" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454515" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454516" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454517" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454518" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454519" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454520" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454521" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454522" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454523" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454524" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454525" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454526" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454527" "00003435" "99" "-548" "0" "-153" "0" "c.(?_-548)_(-153+1_-152-1)del" "r.0?" "p.0?" "_1_2i" "0000454528" "00003435" "59" "-24" "0" "-14" "0" "c.-24_-14del" "r.(?)" "p.(?)" "3" "0000454529" "00003435" "59" "-24" "0" "-14" "0" "c.-24_-14del" "r.(?)" "p.(?)" "3" "0000454530" "00003435" "59" "-24" "0" "-14" "0" "c.-24_-14del" "r.(?)" "p.(?)" "3" "0000454531" "00003435" "59" "1342" "96" "4729" "0" "c.1342+96_*3130del" "r.?" "p.?" "11i_13" "0000454532" "00003435" "59" "-548" "0" "68" "0" "c.(?_-548)_(67+1_68-1)del" "r.0?" "p.0?" "_1_3i" "0000454533" "00003435" "59" "1342" "96" "4729" "0" "c.1342+96_*3130del" "r.?" "p.?" "11i_13" "0000454534" "00003435" "59" "1342" "96" "4729" "0" "c.1342+96_*3130del" "r.?" "p.?" "11i_13" "0000454535" "00003435" "99" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg478His)" "11" "0000454536" "00003435" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_13_" "0000454537" "00003435" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_13_" "0000454538" "00003435" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_13_" "0000454539" "00003435" "99" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454540" "00003435" "99" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454541" "00003435" "99" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454542" "00003435" "99" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454543" "00003435" "59" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454544" "00003435" "99" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454545" "00003435" "15" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Cys175Tyr)" "7" "0000454546" "00003435" "55" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Cys)" "11" "0000454547" "00003435" "55" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Thr78Ile)" "5" "0000454548" "00003435" "55" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Thr78Ile)" "5" "0000454549" "00003435" "55" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Thr78Ile)" "5" "0000454550" "00003435" "55" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Thr78Ile)" "5" "0000454551" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454552" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454553" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454554" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454555" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454556" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454557" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454558" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454559" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454560" "00003435" "55" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "4" "0000454561" "00003435" "55" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "4" "0000454562" "00003435" "55" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "4" "0000454563" "00003435" "59" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454564" "00003435" "59" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454565" "00003435" "59" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454566" "00003435" "59" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454567" "00003435" "99" "218" "0" "218" "0" "c.218dup" "r.(?)" "p.(Asn73Lysfs*2)" "4" "0000454568" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454569" "00003435" "59" "44" "0" "47" "0" "c.44_47del" "r.(?)" "p.(Leu15Serfs*20)" "3" "0000454570" "00003435" "59" "176" "0" "176" "0" "c.176del" "r.(?)" "p.(Leu59*)" "4" "0000454571" "00003435" "55" "359" "0" "359" "0" "c.359G>C" "r.(?)" "p.(Arg120Pro)" "6" "0000454572" "00003435" "55" "373" "0" "373" "0" "c.373T>G" "r.(?)" "p.(Cys125Gly)" "6" "0000454573" "00003435" "55" "385" "0" "385" "0" "c.385T>A" "r.(?)" "p.(Leu129Ile)" "6" "0000454574" "00003435" "59" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(Tyr176*)" "7" "0000454575" "00003435" "59" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228*)" "9" "0000454576" "00003435" "59" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Gln233*)" "9" "0000454577" "00003435" "59" "769" "0" "769" "0" "c.769A>T" "r.(?)" "p.(Lys257*)" "9" "0000454578" "00003435" "59" "531" "0" "3068" "0" "c.(530+1_531-1)_(*1469_?)del" "r.?" "p.?" "7i_13_" "0000454579" "00003435" "59" "531" "0" "3068" "0" "c.(530+1_531-1)_(*1469_?)del" "r.?" "p.?" "7i_13_" "0000454580" "00003435" "55" "872" "0" "872" "0" "c.872T>C" "r.(?)" "p.(Phe291Ser)" "10" "0000454581" "00003435" "55" "1242" "0" "1242" "0" "c.1242G>A" "r.(?)" "p.(Glu415Lys)" "11" "0000454582" "00003435" "55" "1242" "0" "1242" "0" "c.1242G>A" "r.(?)" "p.(Glu415Lys)" "11" "0000454583" "00003435" "55" "1242" "0" "1242" "0" "c.1242G>A" "r.(?)" "p.(Glu415Lys)" "11" "0000454584" "00003435" "55" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Cys)" "11" "0000454585" "00003435" "59" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494*)" "13" "0000454586" "00003435" "59" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494*)" "13" "0000454587" "00003435" "59" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454588" "00003435" "55" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Leu332Pro)" "10" "0000454589" "00003435" "55" "1058" "0" "1058" "0" "c.1058A>G" "r.(?)" "p.(Gln353Arg)" "10" "0000454590" "00003435" "55" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478His)" "12" "0000454591" "00003435" "59" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454592" "00003435" "59" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454593" "00003435" "59" "-548" "0" "3068" "0" "c.(?_-548)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000454594" "00003435" "99" "230" "452" "333" "441" "c.230+452_333+441dup" "r.?" "p.(Asp112Asnfs*2)" "4i_5i" "0000454891" "00003435" "90" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361*)" "8" "0000454892" "00003435" "90" "-119300" "0" "68" "0" "c.(?_-119300)_(67+1_68-1)del" "r.0?" "p.0?" "_1_3i" "0000454893" "00003435" "90" "-153" "0" "68" "0" "c.(-153+1_-152-1)_(67+1_68-1)del" "p.0?" "p.0?" "2i_3i" "0000454894" "00003435" "90" "1010" "0" "1010" "0" "c.1010C>G" "r.(?)" "p.(Ser337*)" "8" "0000454895" "00003435" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Gln117*)" "4" "0000454896" "00003435" "90" "388" "0" "388" "0" "c.388T>C" "r.(?)" "p.(Cys130Arg)" "4" "0000454897" "00003435" "90" "431" "-66" "431" "-2" "c.431-66_431-2del" "r.spl" "p.?" "4i" "0000454898" "00003435" "90" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Gln195*)" "6" "0000454899" "00003435" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228*)" "7" "0000454900" "00003435" "90" "888" "0" "888" "0" "c.888del" "r.(?)" "p.(Gly298Valfs*10)" "8" "0000454901" "00003435" "90" "-119300" "0" "3068" "0" "c.(?_-119300)_(*1469_?)del" "r.0" "p.0" "_1_13_" "0000541317" "00003435" "30" "-1077" "0" "-1077" "0" "c.-1077T>C" "r.(?)" "p.(=)" "" "0000541318" "00003435" "10" "-1063" "0" "-1063" "0" "c.-1063G>C" "r.(?)" "p.(=)" "" "0000541319" "00003435" "10" "-978" "0" "-978" "0" "c.-978G>A" "r.(?)" "p.(=)" "" "0000541320" "00003435" "10" "-934" "0" "-934" "0" "c.-934G>A" "r.(?)" "p.(=)" "" "0000541321" "00003435" "30" "-876" "0" "-876" "0" "c.-876G>T" "r.(?)" "p.(=)" "" "0000541322" "00003435" "10" "-854" "0" "-854" "0" "c.-854G>C" "r.(?)" "p.(=)" "" "0000541323" "00003435" "10" "-774" "0" "-774" "0" "c.-774T>G" "r.(?)" "p.(=)" "" "0000541324" "00003435" "30" "-658" "0" "-658" "0" "c.-658C>T" "r.(?)" "p.(=)" "" "0000541325" "00003435" "10" "-602" "0" "-602" "0" "c.-602C>T" "r.(?)" "p.(=)" "" "0000541326" "00003435" "30" "-547" "0" "-547" "0" "c.-547C>T" "r.(?)" "p.(=)" "" "0000541327" "00003435" "30" "198" "0" "198" "0" "c.198C>T" "r.(?)" "p.(His66=)" "" "0000541328" "00003435" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Pro140Leu)" "" "0000541329" "00003435" "50" "430" "5" "430" "5" "c.430+5G>A" "r.spl?" "p.?" "" "0000541330" "00003435" "10" "431" "-26" "431" "-26" "c.431-26T>A" "r.(=)" "p.(=)" "" "0000541331" "00003435" "10" "531" "-59" "531" "-59" "c.531-59T>C" "r.(=)" "p.(=)" "" "0000541332" "00003435" "30" "531" "-51" "531" "-51" "c.531-51G>A" "r.(=)" "p.(=)" "" "0000541333" "00003435" "30" "531" "-22" "531" "-22" "c.531-22T>C" "r.(=)" "p.(=)" "" "0000541334" "00003435" "30" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Ala259=)" "" "0000541335" "00003435" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Ter)" "" "0000541336" "00003435" "90" "1167" "-2" "1167" "-2" "c.1167-2A>G" "r.spl?" "p.?" "" "0000541337" "00003435" "50" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0000541338" "00003435" "30" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Cys)" "" "0000541339" "00003435" "30" "1419" "0" "1419" "0" "c.1419T>G" "r.(?)" "p.(Val473=)" "" "0000541340" "00003435" "10" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(Thr520=)" "" "0000578327" "00003435" "50" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.Val240Ile" "" "0000595717" "00003435" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244*)" "" "0000612755" "00003435" "30" "-785" "0" "-785" "0" "c.-785T>C" "r.(?)" "p.(=)" "" "0000612756" "00003435" "50" "793" "0" "793" "0" "c.793A>T" "r.(?)" "p.(Thr265Ser)" "" "0000612757" "00003435" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Thr520Met)" "" "0000622446" "00003435" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Phe263=)" "" "0000622447" "00003435" "70" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Arg480Trp)" "" "0000648021" "00003435" "50" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Cys)" "" "0000659689" "00003435" "50" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Met167Val)" "" "0000690813" "00003435" "30" "675" "17" "675" "17" "c.675+17T>C" "r.(=)" "p.(=)" "" "0000690814" "00003435" "50" "1000" "0" "1000" "0" "c.1000T>A" "r.(?)" "p.(Leu334Met)" "" "0000690815" "00003435" "50" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Ala357Thr)" "" "0000690816" "00003435" "30" "1089" "0" "1089" "0" "c.1089A>G" "r.(?)" "p.(Leu363=)" "" "0000699784" "00003435" "50" "" "0" "" "0" "c.?" "r.(?)" "p.(Phe397Ser)" "" "0000722988" "00003435" "50" "1000" "0" "1000" "0" "c.1000T>A" "r.(?)" "p.(Leu334Met)" "" "0000804597" "00003435" "10" "1342" "6" "1342" "6" "c.1342+6A>G" "r.(=)" "p.(=)" "" "0000828286" "00003435" "50" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0000828289" "00003435" "50" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0000845011" "00003435" "50" "231" "-1" "231" "-1" "c.231-1G>A" "r.spl" "p.?" "" "0000852612" "00003435" "10" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Pro145=)" "" "0000852613" "00003435" "30" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188His)" "" "0000862023" "00003435" "10" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Asp380=)" "" "0000862024" "00003435" "30" "1419" "0" "1419" "0" "c.1419T>G" "r.(?)" "p.(Val473=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 342 "{{screeningid}}" "{{variantid}}" "0000022286" "0000044478" "0000034918" "0000062037" "0000034919" "0000062038" "0000034920" "0000062039" "0000034921" "0000062040" "0000034922" "0000062041" "0000034923" "0000062042" "0000049925" "0000078839" "0000049926" "0000078840" "0000049927" "0000078841" "0000049928" "0000078842" "0000049929" "0000078843" "0000049930" "0000078844" "0000049931" "0000078845" "0000049932" "0000078846" "0000049933" "0000078847" "0000049934" "0000078848" "0000049935" "0000078849" "0000049936" "0000078850" "0000049937" "0000078851" "0000049938" "0000078852" "0000049939" "0000078853" "0000049940" "0000078854" "0000049941" "0000078855" "0000049942" "0000078856" "0000049943" "0000078857" "0000049944" "0000078858" "0000049945" "0000078859" "0000049946" "0000078860" "0000049947" "0000078861" "0000049948" "0000078862" "0000049949" "0000078863" "0000049950" "0000078864" 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"0000408134" "0000845011"