### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MUTYH) # 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}}" "MUTYH" "mutY homolog (E. coli)" "1" "p34.1" "unknown" "LRG_220" "UD_132085237955" "" "https://www.LOVD.nl/MUTYH" "" "1" "7527" "4595" "604933" "1" "1" "1" "1" "Aliases: MYH; CYP2C; MGC4416; RP4-534D1.2\r\n this is one of the InSiGHT gene variant databases.\r\nWe want to gratefully acknowledge Astrid Out (until 2014), Johan den Dunnen (until 2018) and Carli Tops (until 2020) for helping to curate the database." "" "g" "http://databases.lovd.nl/shared/refseq/MUTYH_codingDNA.html" "1" "" "
\r\n
\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-03-19 11:51:54" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023838" "MUTYH" "transcript variant alpha5" "003" "NM_001128425.1" "" "NP_001121897.1" "" "" "" "-216" "1714" "1650" "45806142" "45794914" "00008" "2013-09-26 17:34:18" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 30 "{{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" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00312" "FAP1" "adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome)" "AD" "175100" "" "" "" "00006" "2014-01-27 14:53:36" "00006" "2021-12-10 21:51:32" "00314" "polyposis" "polyposis" "" "" "" "" "" "00006" "2014-01-27 14:59:09" "" "" "00315" "cancer, bladder" "cancer, bladder" "" "109800" "" "" "" "00006" "2014-01-28 14:01:22" "" "" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00334" "HDGC" "cancer, gastric, hereditary diffuse (HDGC)" "AD" "137215" "" "" "" "00006" "2014-02-23 21:58:16" "00006" "2021-12-10 21:51:32" "00335" "FAP2" "adenomatous polyposis, familial, type 2 (FAP-2, adenomas, colorectal)" "AR" "608456" "" "" "" "00006" "2014-02-23 22:01:31" "00006" "2021-12-10 21:51:32" "00423" "-" "cancer, endometrial" "AD;SMu" "608089" "" "" "" "00006" "2014-06-18 09:01:15" "00006" "2021-12-10 21:51:32" "00681" "cancer, pancreatic" "cancer, pancreatic" "" "260350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:24:29" "00683" "cancer, breast" "cancer, breast, susceptibility" "" "114480" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-30 17:21:12" "00882" "cancer, esophageal" "cancer, esophageal" "" "133239" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:25:09" "01317" "PILOMATRICOMA" "pilomatrixoma" "" "132600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01524" "cancer, prostate" "cancer, prostate" "AD;SMu" "176807" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" "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" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05154" "cancer, skin" "cancer, skin" "" "" "" "" "" "00006" "2016-04-14 15:55:23" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05487" "cancer, rectal" "cancer, rectal" "" "" "" "" "" "00006" "2018-10-25 09:29:33" "" "" "05488" "SSPCS" "cancer, polyposis, sessile serrated syndrome (SSPCS)" "AD" "617108" "" "autosomal dominant" "" "00006" "2018-10-26 14:52:25" "00006" "2021-12-10 21:51:32" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05490" "cancer, duodenal" "cancer, duodenal" "" "" "" "" "" "00006" "2018-10-26 16:34:39" "" "" "05497" "cancer, head/neck" "cancer, head/neck" "" "" "" "" "" "00006" "2018-11-02 15:59:26" "" "" "05862" "kidney disease" "kidney disease" "" "" "" "" "" "00006" "2020-10-25 09:21:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "MUTYH" "00334" "MUTYH" "00335" "MUTYH" "01317" "MUTYH" "03381" ## Individuals ## Do not remove or alter this header ## ## Count = 2143 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00003026" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00003287" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" "" "00036295" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036296" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036297" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036298" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036299" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036300" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036301" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00047863" "" "" "" "1" "" "00727" "{PMID:Puijenbroek 2007:17039270}" "" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00106589" "" "" "" "1" "" "02029" "" "" "F" "" "(Germany)" "" "0" "" "" "" "170005587" "00133260" "" "" "" "1" "" "02282" "" "Isolated case" "F" "?" "Russia" "" "0" "" "" "Yakut" "" "00133261" "" "" "" "1" "" "02282" "" "" "M" "" "Russia" "" "0" "" "" "" "" "00133262" "" "" "" "3" "" "02282" "" "familial, brother – colorectal cancer (82 years), mother – colorectal cancer (80 years)" "M" "" "Russia" "" "0" "" "" "" "" "00155591" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155594" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155596" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155598" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155600" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155608" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155609" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155612" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155613" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155616" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155619" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155622" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155627" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155628" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155631" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155632" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155635" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155641" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155644" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155652" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155654" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155658" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155660" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155662" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155666" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155667" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155668" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155673" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155674" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155675" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155679" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155680" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155689" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155691" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155698" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155704" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00155707" "" "" "" "1" "" "01873" "contributed by Dept. of Dr Vaccaro" "" "" "" "Argentina" "" "0" "" "" "" "" "00188635" "" "" "" "1" "" "02181" "" "no family history" "M" "" "Spain" "" "0" "" "" "white" "" "00200928" "" "" "" "1" "" "00770" "" "The family history includes colon, endometrial, stomach, bladder and lung cancers with a number of other tumours such as medullablastoma, pituitary tumour and testicular cancer.; ; The only other family member we have been able to test was distant relative (maternal cousin’s daughter) who was diagnosed with endometrial cancer age 44. She also carries the same MSH6 VUS. Testing on endometrial tumour did not show MSI or loss of proteins." "M" "" "United Kingdom (Great Britain)" "" "0" "pedigree" "" "" "" "00201843" "" "" "" "1" "" "00770" "{PMID:Cohen 2016:27014339}" "" "" "" "" "" "0" "" "" "" "" "00201867" "" "" "" "1" "" "02181" "" "" "M" "" "" "" "0" "no pedigree" "" "" "" "00202345" "" "" "" "3" "" "02939" "{PMID:Görgens 2006:16645203}" "3/50 (6%) HNPCC patients (42/50 <50 years); (8.6% of 116 controls)" "" "" "Germany" "" "0" "" "" "white" "" "00202346" "" "" "" "1" "" "02939" "{PMID:Görgens 2006:16645203}" "" "" "" "Germany" "" "0" "" "" "white" "" "00202347" "" "" "" "1" "" "02939" "{PMID:Görgens 2006:16645203}" "" "" "" "Germany" "" "0" "" "" "white" "" "00202348" "" "" "" "11" "" "02939" "{PMID:Görgens 2006:16645203}" "" "" "" "Germany" "" "0" "" "" "white" "" "00202349" "" "" "" "1" "" "02939" "{PMID:Görgens 2006:16645203}" "5,2% of 116 controls; (0/50 HNPCC patients (42/50 <50 years))" "" "" "Germany" "" "0" "" "" "white" "" "00202350" "" "" "" "1" "" "02939" "{PMID:Görgens 2006:16645203}" "Rectal cancer age 48; no family history; 1/50 patients (0,9% of controls)" "" "" "Germany" "" "0" "" "" "white" "" "00202351" "" "" "" "1" "" "02939" "{PMID:Görgens 2006:16645203}" "Rectal cancer age 42; no family history; 1/50 patients (0 controls)" "" "" "Germany" "" "0" "" "" "white" "" "00202352" "" "" "" "3" "" "02939" "{PMID:Görgens 2006:16645203}" "3/50 (6%) HNPCC patients (42/50 <50 years); (2.6% of 116 controls)" "" "" "Germany" "" "0" "" "" "white" "" "00202353" "" "" "" "2" "" "02939" "{PMID:Görgens 2006:16645203}" "2/50 (4%) HNPCC patients (42/50 <50 years); (3.4% of 116 controls)" "" "" "Germany" "" "0" "" "" "white" "" "00202354" "" "" "" "1" "" "02939" "{PMID:Görgens 2006:16645203}" "1,7% of 116 controls); (0/50 HNPCC patients (42/50 <50 years))" "" "" "Germany" "" "0" "" "" "white" "" "00202355" "" "" "" "6" "" "02939" "{PMID:Görgens 2006:16645203}" "6/50 (12%) HNPCC patients (42/50 <50 years); (11,2% of 116 controls)" "" "" "Germany" "" "0" "" "" "white" "" "00202356" "" "" "" "1" "" "02939" "{PMID:Görgens 2006:16645203}" "1,7% of 116 controls); (0/50 HNPCC patients (42/50 <50 years))" "" "" "Germany" "" "0" "" "" "white" "" "00202357" "" "" "" "12" "" "02939" "{PMID:Görgens 2006:16645203}" "" "" "" "Germany" "" "0" "" "" "white" "" "00202358" "" "" "" "1" "" "02939" "{PMID:Görgens 2006:16645203}" "" "" "" "Germany" "" "0" "" "" "white" "" "00202359" "" "" "" "5" "" "02939" "{PMID:Eliason 2005:15635083}" "4/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients" "" "" "United States" "" "0" "" "" "" "" "00202360" "" "" "" "9" "" "02939" "{PMID:Eliason 2005:15635083}" "7/219 APC neg FAP patients; 2/306 MLH1 and MSH2 neg HNPCC patients" "" "" "United States" "" "0" "" "" "" "" "00202361" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202362" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202363" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202364" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202365" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202366" "" "" "" "7" "" "02939" "{PMID:Eliason 2005:15635083}" "4/219 APC neg FAP patients; 3/306 MLH1 and MSH2 neg HNPCC patients" "" "" "United States" "" "0" "" "" "" "" "00202367" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202368" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202369" "" "" "" "2" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202370" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202371" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202372" "" "" "" "8" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202373" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202374" "" "" "" "1" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202375" "" "" "" "2" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202376" "" "" "" "2" "" "02939" "{PMID:Eliason 2005:15635083}" "" "" "" "United States" "" "0" "" "" "" "" "00202377" "" "" "" "1" "" "02939" "{PMID:Dolwani 2007:17369389}" "" "" "" "India" "" "0" "" "" "Indian subcontinent" "" "00202378" "" "" "" "1" "" "02939" "{PMID:Dolwani 2007:17369389}" "1/100 controls (1/120 CRC cases)" "" "" "India" "" "0" "" "" "Indian subcontinent" "" "00202379" "" "" "" "0" "" "02939" "{PMID:Dolwani 2007:17369389}" "Zero among 120 CRC cases and 100 controls" "" "" "India" "" "0" "" "" "Indian subcontinent" "" "00202380" "" "" "" "0" "" "02939" "{PMID:Dolwani 2007:17369389}" "Zero among 120 CRC cases and 100 controls" "" "" "India" "" "0" "" "" "Indian subcontinent" "" "00202381" "" "" "" "0" "" "02939" "{PMID:Dolwani 2007:17369389}" "Zero among 120 CRC cases and 100 controls" "" "" "India" "" "0" "" "" "Indian subcontinent" "" "00202382" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_15" "00202383" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_16" "00202384" "" "" "" "5" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "" "" "Canada" "" "0" "" "" "" "15523092_controls_Q342H" "00202385" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_7" "00202386" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_17" "00202387" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_10" "00202388" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_11" "00202389" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_12" "00202390" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202391" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202392" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202393" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202394" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202395" "" "" "" "1" "" "02939" "{PMID:Aceto 2005:16134147}" "" "" "" "Italy" "" "0" "" "" "" "" "00202396" "" "" "" "1" "" "02939" "{PMID:Aceto 2005:16134147}" "" "" "" "Italy" "" "0" "" "" "" "" "00202397" "" "" "" "1" "" "02939" "{PMID:Aceto 2005:16134147}" "" "" "" "Italy" "" "0" "" "" "" "" "00202398" "" "" "" "1" "" "02939" "{PMID:Aceto 2005:16134147}" "" "" "" "Italy" "" "0" "" "" "" "" "00202399" "" "" "" "1" "" "02939" "{PMID:Aceto 2005:16134147}" "" "" "" "Italy" "" "0" "" "" "" "" "00202400" "" "" "" "1" "" "02939" "{PMID:Aceto 2005:16134147}" "" "" "" "Italy" "" "0" "" "" "" "" "00202401" "" "" "" "1" "" "02939" "{PMID:Aceto 2005:16134147}" "" "" "" "Italy" "" "0" "" "" "" "" "00202402" "" "" "" "1" "" "02939" "{PMID:Aceto 2005:16134147}" "" "" "" "Italy" "" "0" "" "" "" "" "00202403" "" "" "" "1" "" "02939" "{PMID:Aceto 2005:16134147}" "" "" "" "Italy" "" "0" "" "" "" "" "00202404" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202405" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202406" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202407" "" "" "" "1" "" "02939" "{PMID:Enholm 2003:12937124}" "1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls" "M" "" "Finland" "" "0" "" "" "" "" "00202408" "" "" "" "1" "" "02939" "{PMID:Enholm 2003:12937124}" "4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls" "F" "" "Finland" "" "0" "" "" "" "" "00202409" "" "" "" "1" "" "02939" "{PMID:Enholm 2003:12937124}" "" "M" "" "Finland" "" "0" "" "" "" "" "00202410" "" "" "" "1" "" "02939" "{PMID:Enholm 2003:12937124}" "4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls" "F" "" "Finland" "" "0" "" "" "" "" "00202411" "" "" "" "1" "" "02939" "{PMID:Enholm 2003:12937124}" "4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls" "F" "" "Finland" "" "0" "" "" "" "" "00202412" "" "" "" "1" "" "02939" "{PMID:Enholm 2003:12937124}" "1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls" "F" "" "Finland" "" "0" "" "" "" "" "00202413" "" "" "" "1" "" "02939" "{PMID:Enholm 2003:12937124}" "3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls" "F" "" "Finland" "" "0" "" "" "" "" "00202414" "" "" "" "1" "" "02939" "{PMID:Enholm 2003:12937124}" "4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls" "F" "" "Finland" "" "0" "" "" "" "" "00202415" "" "" "" "1" "" "02939" "{PMID:Enholm 2003:12937124}" "3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls" "M" "" "Finland" "" "0" "" "" "" "" "00202416" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202417" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202418" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202419" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202420" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202421" "" "" "" "1" "" "02939" "{PMID:Gismondi 2004:14999774}" "" "" "" "Italy" "" "0" "" "" "" "" "00202422" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202423" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202424" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202425" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "3/107 UK patients with classic FAP; APC mutation negative" "F" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202426" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "1/107 UK classic FAP patients APC negative" "M" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202427" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "3/107 UK patients with classic FAP; APC mutation negative" "M" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202428" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202429" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "3/107 UK patients with classic FAP; APC mutation negative" "F" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202430" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "1/107 UK classic FAP patients APC negative" "M" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202431" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202432" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202433" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0002}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202434" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202435" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202436" "" "" "" "1" "" "00645" "{PMID:Sieber 2003:12606733}, {PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "M" "" "Switzerland" "" "0" "" "" "" "" "00202437" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202438" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "" "M" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202439" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "3/107 UK patients with classic FAP; APC mutation negative" "F" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202440" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "" "F" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202441" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "1/107 UK classic FAP patients APC negative" "M" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202442" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "3/107 UK patients with classic FAP; APC mutation negative" "M" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202443" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202444" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "3/107 UK patients with classic FAP; APC mutation negative" "F" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202445" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "" "M" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202446" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "" "M" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202447" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202448" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202449" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}, {OMIM604933:0001}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202450" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}" "1/107 UK classic FAP patients APC negative" "F" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202451" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}" "1/107 UK classic FAP patients APC negative" "M" "" "Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal" "" "0" "" "" "" "" "00202452" "" "" "" "1" "" "02939" "{PMID:Sieber 2003:12606733}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202453" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "M" "" "France" "" "0" "" "" "white" "" "00202454" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "M" "" "France" "" "0" "" "" "white" "" "00202455" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "M" "" "France" "" "0" "" "" "white" "" "00202456" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "F" "" "France" "" "0" "" "" "white" "" "00202457" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "M" "" "France" "" "0" "" "" "white" "" "00202458" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "M" "" "France" "" "0" "" "" "white" "" "00202459" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "M" "" "France" "" "0" "" "" "white" "" "00202460" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "M" "" "France" "" "0" "" "" "white" "" "00202461" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "M" "" "France" "" "0" "" "" "white" "" "00202462" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "M" "" "France" "" "0" "" "" "white" "" "00202463" "" "" "" "1" "" "02939" "{PMID:Bouguen 2007:17674103}" "APC negative patients" "F" "" "France" "" "0" "" "" "white" "" "00202464" "" "" "" "1" "" "02939" "{PMID:Shin 2007:17219200}" "" "M" "" "Canada" "" "0" "" "" "" "" "00202465" "" "" "" "1" "" "02939" "{PMID:Shin 2007:17219200}" "8% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family)" "M" "" "Canada" "" "0" "" "" "" "" "00202466" "" "" "" "1" "" "02939" "{PMID:Shin 2007:17219200}" "8% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family)" "M" "" "Canada" "" "0" "" "" "" "" "00202467" "" "" "" "1" "" "02939" "{PMID:Shin 2007:17219200}" "" "M" "" "Canada" "" "0" "" "" "" "" "00202468" "" "" "" "1" "" "02939" "{PMID:Shin 2007:17219200}" "" "M" "" "Canada" "" "0" "" "" "" "" "00202469" "" "" "" "1" "" "02939" "{PMID:Shin 2007:17219200}" "" "M" "" "Canada" "" "0" "" "" "" "" "00202470" "" "" "" "1" "" "02939" "{PMID:Alhopuro 2005:16134146}" "" "" "" "Finland" "" "0" "" "" "" "" "00202471" "" "" "" "1" "" "02939" "{PMID:Alhopuro 2005:16134146}" "" "" "" "Finland" "" "0" "" "" "" "" "00202472" "" "" "" "7" "" "02939" "{PMID:Alhopuro 2005:16134146}" "7/24 individuals (22 families). FAP: 19, AFAP: 3" "" "" "Finland" "" "0" "" "" "" "" "00202473" "" "" "" "2" "" "02939" "{PMID:Alhopuro 2005:16134146}" "" "" "" "Finland" "" "0" "" "" "" "" "00202474" "" "" "" "1" "" "02939" "{PMID:Alhopuro 2005:16134146}" "" "" "" "Finland" "" "0" "" "" "" "" "00202475" "" "" "" "1" "" "02939" "{PMID:Alhopuro 2005:16134146}" "" "" "" "Finland" "" "0" "" "" "" "" "00202476" "" "" "" "1" "" "02939" "{PMID:Alhopuro 2005:16134146}" "" "" "" "Finland" "" "0" "" "" "" "" "00202477" "" "" "" "1" "" "02939" "{PMID:Alhopuro 2005:16134146}" "population-based series; 1 homozygote / 1,042 CRC patients (0/85 controls)" "" "" "Finland" "" "0" "" "" "" "" "00202478" "" "" "" "1" "" "02939" "{PMID:Kambara 2004:15034862}" "" "M" "" "Australia" "" "0" "" "" "" "" "00202479" "" "" "" "1" "" "02939" "{PMID:Kambara 2004:15034862}" "" "" "" "Australia" "" "0" "" "" "" "" "00202480" "" "" "" "2" "" "02939" "{PMID:Kambara 2004:15034862}" "2 healthy blood donors" "" "" "Australia" "" "0" "" "" "" "" "00202481" "" "" "" "12" "" "02939" "{PMID:Kambara 2004:15034862}" "" "" "" "Australia" "" "0" "" "" "" "" "00202482" "" "" "" "9" "" "02939" "{PMID:Kambara 2004:15034862}" "9 healthy blood donors" "" "" "Australia" "" "0" "" "" "" "" "00202483" "" "" "" "1" "" "02939" "{PMID:Kambara 2004:15034862}" "familial CRC patient; does not meet Bethesda criteria." "M" "" "Australia" "" "0" "" "" "" "" "00202484" "" "" "" "1" "" "02939" "{PMID:Kambara 2004:15034862}" "healthy blood donor" "" "" "Australia" "" "0" "" "" "" "" "00202485" "" "" "" "2" "" "02939" "{PMID:Kambara 2004:15034862}" "2 Sporadic CRC patients" "" "" "Australia" "" "0" "" "" "" "" "00202486" "" "" "" "1" "" "02939" "{PMID:Kambara 2004:15034862}" "" "M" "" "Australia" "" "0" "" "" "" "" "00202487" "" "" "" "1" "" "02939" "{PMID:Kambara 2004:15034862}" "" "M" "" "Australia" "" "0" "" "" "" "" "00202488" "" "" "" "5" "" "02939" "{PMID:Kambara 2004:15034862}" "5 Sporadic CRC patients" "" "" "Australia" "" "0" "" "" "" "" "00202489" "" "" "" "2" "" "02939" "{PMID:Kambara 2004:15034862}" "2 healthy blood donors" "" "" "Australia" "" "0" "" "" "" "" "00202490" "" "" "" "1" "" "02939" "{PMID:Vandrovcová 2004:15024739}" "1 biallelic among 21 APC neg patients (probands)" "M" "" "Czech Republic" "" "0" "" "" "" "" "00202491" "" "" "" "1" "" "00640" "{PMID:Lipton 2003:14633673}" "" "" "" "(Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00202492" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2006:16943222}, {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202493" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "Netherlands" "" "0" "" "" "" "" "00202494" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "Netherlands" "" "0" "" "" "" "" "00202495" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202496" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202497" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2007:17489848}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202498" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202499" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202500" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202501" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202502" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "Netherlands" "" "0" "" "" "" "" "00202503" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202504" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202505" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202506" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202507" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202508" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "Netherlands" "" "0" "" "" "" "" "00202509" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "Netherlands" "" "0" "" "" "" "" "00202510" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202511" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202512" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202513" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "Netherlands" "" "0" "" "" "" "" "00202514" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202515" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202516" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys; Among 170 APC negative Dutch FAP patients" "M" "" "Netherlands" "" "0" "" "" "" "" "00202517" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202518" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}" "Among 170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202519" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202520" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "Netherlands" "" "0" "" "" "" "" "00202521" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202522" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202523" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "Morocco" "" "0" "" "" "" "" "00202524" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "Turkey" "" "0" "" "" "" "" "00202525" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Middeldorp 2008:18506705}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202526" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202527" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202528" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202529" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202530" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "M" "" "Netherlands" "" "0" "" "" "" "" "00202531" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "Among 170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202532" "" "" "" "3" "" "00640" "{PMID:Jones 2002:12393807}, {OMIM604933:0005}" "" "" "" "India" "" "0" "" "" "" "PMID12393807_1" "00202533" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "PMID14991577_5" "00202534" "" "" "" "1" "" "00640" "{PMID:Kim 2004:15273732}, {OMIM604933:0006}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "PMID15273732_1" "00202535" "" "" "" "1" "" "00640" "{PMID:Baglioni 2005:15690400}, {OMIM604933:0008}" "" "" "" "Italy" "" "0" "" "" "" "PMID15690400_1" "00202537" "" "" "" "1" "" "00640" "{PMID:Nielsen 2009b:19527492};Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Turkey" "" "0" "" "" "" "" "00202538" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00202539" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}, {PMID:Vogt 2009:19732775}" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00202540" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}, {PMID:Vogt 2009:19732775}" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00202541" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}, {PMID:Vogt 2009:19732775}" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00202542" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}, {PMID:Vogt 2009:19732775}" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00202543" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202544" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202545" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}" "Among 170 APC negative Dutch FAP patients" "M" "" "" "" "0" "" "" "" "" "00202546" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}" "Among 170 APC negative Dutch FAP patients" "M" "" "" "" "0" "" "" "" "" "00202547" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}" "Among 170 APC negative Dutch FAP patients" "F" "" "Netherlands" "" "0" "" "" "" "" "00202548" "" "" "" "1" "" "00640" "{PMID:Nielsen 2005:16140997}" "Among 170 APC negative Dutch FAP patients" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202549" "" "" "" "50" "" "00640" "{PMID:Shinmura 2001:11295288}" "among cancerous tissues of 55 unrelated lungcancer patients" "" "" "Japan" "" "0" "" "" "" "PMID11295288_1" "00202550" "" "" "" "2" "" "00640" "{PMID:Shinmura 2001:11295288}" "among 43 US individuals with various types of carcinoma" "" "" "United States" "" "0" "" "" "" "PMID11295288_2" "00202551" "" "" "" "4" "" "00640" "{PMID:Shinmura 2001:11295288}" "" "" "" "Japan" "" "0" "" "" "" "PMID11295288_3" "00202552" "" "" "" "1" "" "00640" "{PMID:Shinmura 2001:11295288}" "among cancerous tissues of 55 unrelated lung cancer patients" "" "" "Japan" "" "0" "" "" "" "PMID11295288_4" "00202553" "" "" "" "2" "" "00640" "{PMID:Shinmura 2001:11295288}" "Among 43 US individuals with various types of carcinoma" "" "" "United States" "" "0" "" "" "" "PMID11295288_5" "00202554" "" "" "" "1" "" "00640" "{PMID:Shinmura 2001:11295288}" "among cancerous tissues of 55 unrelated lungcancer patients" "" "" "Japan" "" "0" "" "" "" "PMID11295288_6" "00202555" "" "" "" "10" "" "02939" "{PMID:Shinmura 2001:11295288}" "among cancerous tissues of 55 unrelated lungcancer patients" "" "" "Japan" "" "0" "" "" "" "PMID11295288_7" "00202556" "" "" "" "1" "" "00640" "{PMID:Shinmura 2001:11295288}" "among cancerous tissues of 55 unrelated lungcancer patients" "" "" "Japan" "" "0" "" "" "" "PMID11295288_8" "00202557" "" "" "" "1" "" "00640" "{PMID:Halford 2003:12707038}" "" "" "" "" "" "0" "" "" "" "PMID12707038_1" "00202558" "" "" "" "1" "" "00640" "{PMID:Halford 2003:12707038}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "PMID12707038_2" "00202559" "" "" "" "1" "" "00640" "{PMID:Halford 2003:12707038}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "PMID12707038_3" "00202560" "" "" "" "1" "" "00640" "{PMID:Halford 2003:12707038}" "somatic mutation; does not involve conserved amino acid, human mutant is WT in rat and mouse" "" "" "" "" "0" "" "" "" "PMID12707038_4" "00202561" "" "" "" "1" "" "00640" "{PMID:Sampson 2003:12853198}" "" "" "" "Pakistan" "" "0" "" "" "" "PMID12853198_1" "00202562" "" "" "" "1" "" "00640" "{PMID:Sampson 2003:12853198}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "PMID12853198_2" "00202563" "" "" "" "1" "" "00640" "{PMID:Sampson 2003:12853198}" "adenomas 31y>100 adenomas; 0/200 control chromosomes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID12853198_3" "00202564" "" "" "" "1" "" "00640" "{PMID:Sampson 2003:12853198}" "56y 14 adenomas;" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID12853198_4" "00202565" "" "" "" "1" "" "00640" "{PMID:Sampson 2003:12853198}" "" "" "" "India" "" "0" "" "" "" "PMID12853198_5" "00202566" "" "" "" "1" "" "00640" "{PMID:Cheadle and Sampson, 2003:12915454}" "" "" "" "" "" "0" "" "" "" "PMID12915454_1" "00202569" "" "" "" "1" "" "02939" "{PMID:Knudsen 2003:14574166}" "" "" "" "" "" "0" "" "" "" "PMID14574166_3" "00202571" "" "" "" "1" "" "00640" "{PMID:Lipton 2003:14633673}" "" "" "" "(Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain))" "" "0" "" "" "" "PMID14633673_1" "00202572" "" "" "" "1" "" "00640" "{PMID:Lipton 2003:14633673}" "" "" "" "(Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain))" "" "0" "" "" "" "PMID14633673_2" "00202573" "" "" "" "1" "" "00640" "{PMID:Lipton 2003:14633673}" "" "" "" "(Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain))" "" "0" "" "" "" "PMID14633673_3" "00202574" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "" "" "0" "" "" "" "PMID14991577_1" "00202575" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "" "" "0" "" "" "" "PMID14991577_10" "00202576" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "" "" "0" "" "" "" "PMID14991577_2" "00202577" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "" "" "0" "" "" "" "PMID14991577_3" "00202578" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "" "" "0" "" "" "" "PMID14991577_4" "00202579" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "" "" "0" "" "" "" "PMID14991577_6" "00202580" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "" "" "0" "" "" "" "PMID14991577_7" "00202581" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "" "" "0" "" "" "" "PMID14991577_8" "00202582" "" "" "" "1" "" "00640" "{PMID:Fleischmann 2004:14991577}" "" "" "" "" "" "0" "" "" "" "PMID14991577_9" "00202583" "" "" "" "1" "" "00640" "{PMID:Gismondi 2004:14999774}" "" "" "" "" "" "0" "" "" "" "PMID14999774_1" "00202584" "" "" "" "1" "" "00640" "{PMID:Tao 2004:15180946}" "" "" "" "" "" "0" "" "" "" "PMID15180946_1" "00202585" "" "" "" "1" "" "00640" "{PMID:Venesio 2004:15188161}" "" "" "" "Italy" "" "0" "" "" "" "PMID15188161_1" "00202586" "" "" "" "1" "" "00640" "{PMID:Venesio 2004:15188161}" "" "" "" "Italy" "" "0" "" "" "" "PMID15188161_2" "00202587" "" "" "" "1" "" "00640" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_32" "00202588" "" "" "" "1" "" "00640" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_33" "00202589" "" "" "" "1" "" "00640" "{PMID:Isidro 2004:15366000}" "not in 150 controls portugal;" "" "" "Portugal" "" "0" "" "" "" "PMID15366000_1" "00202590" "" "" "" "1" "" "02939" "{PMID:Isidro 2004:15366000}" "" "" "" "" "" "0" "" "" "" "PMID15366000_10" "00202591" "" "" "" "1" "" "00640" "{PMID:Isidro 2004:15366000}" "" "" "" "" "" "0" "" "" "" "PMID15366000_11" "00202592" "" "" "" "1" "" "00640" "{PMID:Isidro 2004:15366000}" "" "" "" "Portugal" "" "0" "" "" "" "PMID15366000_2" "00202593" "" "" "" "1" "" "00640" "{PMID:Isidro 2004:15366000}" "" "" "" "" "" "0" "" "" "" "PMID15366000_3" "00202594" "" "" "" "1" "" "00640" "{PMID:Isidro 2004:15366000}" "" "" "" "Portugal" "" "0" "" "" "" "PMID15366000_4" "00202595" "" "" "" "1" "" "00640" "{PMID:Isidro 2004:15366000}" "" "" "" "Portugal" "" "0" "" "" "" "PMID15366000_5" "00202596" "" "" "" "1" "" "00640" "{PMID:Isidro 2004:15366000}" "" "" "" "Portugal" "" "0" "" "" "" "PMID15366000_6" "00202597" "" "" "" "1" "" "00640" "{PMID:Isidro 2004:15366000}" "" "" "" "Portugal" "" "0" "" "" "" "PMID15366000_7" "00202598" "" "" "" "1" "" "00640" "{PMID:Isidro 2004:15366000}" "" "" "" "Portugal" "" "0" "" "" "" "PMID15366000_8" "00202599" "" "" "" "1" "" "02939" "{PMID:Isidro 2004:15366000}" "" "" "" "" "" "0" "" "" "" "PMID15366000_9" "00202600" "" "" "" "1" "" "00640" "{PMID:Farrington 2005:15931596}" "1 (0.04%) compound heterozygote c.[1187-2A>G]+[1187G>A] among 2,239 CRC patients; 0 compound heterozygotes among 1,845 controls; population-based association study" "" "" "Scotland" "" "0" "" "" "" "15931596_patient_c1187_c1187-2" "00202601" "" "" "" "1" "" "00640" "{PMID:Niessen 2006:16408224}" "40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%)," "" "" "Netherlands" "" "0" "" "" "" "16408224_7" "00202602" "" "" "" "1" "" "00640" "{PMID:Niessen 2006:16408224}" "40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%)," "" "" "Netherlands" "" "0" "" "" "" "16408224_4" "00202603" "" "" "" "1" "" "00640" "{PMID:Piccioli 2006:16455870}" "" "" "" "Italy" "" "0" "" "" "" "PMID16455870_1" "00202604" "" "" "" "1" "" "00640" "{PMID:Piccioli 2006:16455870}" "" "" "" "(Italy)" "" "0" "" "" "" "PMID16455870_2" "00202605" "" "" "" "1" "" "00640" "{PMID:Piccioli 2006:16455870}" "" "" "" "Italy" "" "0" "" "" "" "PMID16455870_3" "00202606" "" "" "" "1" "" "00640" "{PMID:Piccioli 2006:16455870}" "" "" "" "Italy" "" "0" "" "" "" "PMID16455870_4" "00202607" "" "" "" "1" "" "00640" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients; Iranian; variant not found in 96 Swedish controls" "F" "" "Sweden;Iran" "" "0" "" "" "Iran" "PMID16616356_6" "00202608" "" "" "" "1" "" "00640" "{PMID:Bai 2007:17081686}" "" "" "" "" "" "0" "" "" "" "PMID17081686_1" "00202609" "" "" "" "1" "" "00640" "{PMID:Bai 2007:17081686}" "" "" "" "Italy" "" "0" "" "" "" "PMID17081686_2" "00202610" "" "" "" "1" "" "00640" "{PMID:Bai 2007:17081686}" "" "" "" "" "" "0" "" "" "" "PMID17081686_3" "00202612" "" "" "" "1" "" "02939" "http://egp.gs.washington.edu/data/mutyh/" "" "" "" "" "" "0" "" "" "" "" "00202613" "" "" "" "7" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "" "" "Netherlands" "" "0" "" "" "" "" "00202614" "" "" "" "7" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "" "" "Netherlands" "" "0" "" "" "" "" "00202615" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202616" "" "" "" "1" "" "00640" "{PMID:Nielsen 2007b:17568392}; Clinical Genetics, LUMC, Leiden, NL" "Deletion entire APC gene" "F" "" "Netherlands" "" "0" "" "" "" "" "00202617" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "" "" "Netherlands" "" "0" "" "" "" "" "00202619" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202620" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202621" "" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009b:19527492}, {PMID:Nielsen 2009b:19527492}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202622" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202625" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202626" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "MLH1, MSH2, MSH6: no pathogenic variant detected; multiple relatives CRC" "F" "" "Netherlands" "" "0" "" "" "" "" "00202627" "" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}; Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Turkey" "" "0" "" "" "" "" "00202629" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202630" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202631" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202632" "" "" "" "1" "" "00640" "{PMID:Jones 2002:12393807}, {OMIM604933:0004}" "" "" "" "Pakistan" "" "0" "" "" "Pakistan" "PMID12393807_2" "00202633" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "Family N, Sib II:1" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_II:1" "00202634" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "Family N, Sib II:2" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_II:2" "00202635" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "Family N, Sib II:3" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_II:3" "00202636" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "Family N, Sib II:6" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_II:6" "00202637" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "Family N, Sib II:7" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_II:7" "00202638" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "Family N, Child III:1 of II:1" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_III:1" "00202639" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "Family N, Child III:2 of II:2" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_III:2" "00202640" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "Family N, Child III:3 of II:2" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_III:3" "00202641" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "Family N, Child III:5 of II:2" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_III:5" "00202642" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0001}" "Family N, Child III:4 of II:2" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_III:4" "00202643" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0002}" "1/100 controls" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_control1" "00202644" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}, {OMIM604933:0001}" "1/100 controls" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_control2" "00202645" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "9% allele frequency in 100 controls" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_control3" "00202646" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "24% allele frequency in 100 controls" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_control4" "00202647" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "3% allele frequency in 100 controls" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_control5" "00202648" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "allele frequency 9% in 42 individuals with CRC at 40 y or younger or one or more first degree relatives with CRC" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_CRC1" "00202649" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "24% allele frequency in 42 individuals with CRC 40 y or younger or one or more first degree relatives with CRC" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_CRC2" "00202650" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "3% allele frequency in 42 individuals with CRC 40 y or younger or one or more first degree relatives with CRC" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_CRC3" "00202651" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "allele frequency 9% in 16 indiduals with 3-50 adenomas with or without carcinoma" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_AFAP1" "00202652" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "24% allele frequency in 16 indiduals with 3-50 adenomas with or without carcinoma" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_AFAP2" "00202653" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "3% allele frequency in 16 indiduals with 3-50 adenomas with or without carcinoma" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_AFAP3" "00202654" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2002:11818965}" "3 adenomas + CRC" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PMID11818965_MA12" "00202655" "" "" "" "0" "" "02939" "{PMID:Akyerli 2003:12920580}" "" "" "" "Turkey" "" "0" "" "" "" "PMID12920580_1" "00202656" "" "" "" "0" "" "02939" "{PMID:Akyerli 2003:12920580}" "" "" "" "Turkey" "" "0" "" "" "" "PMID12920580_2" "00202657" "" "" "" "0" "" "02939" "{PMID:Akyerli 2003:12920580}" "" "" "" "Turkey" "" "0" "" "" "" "PMID12920580_3" "00202658" "" "" "" "1" "" "02939" "{PMID:Akyerli 2003:12920580}" "At first diagnosis; Remission: normal allele; Parents: normal; 1/185 childhood leukemias patients; 45: AML; 140: ALL; 0/124 controls" "" "" "Turkey" "" "0" "" "" "" "PMID12920580_AML/M3" "00202659" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202660" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202661" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with more than 5 polyps and, or CRC in France" "" "" "" "" "0" "" "" "" "" "00202662" "" "" "" "2" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "France" "" "0" "" "" "" "" "00202663" "" "" "" "2" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "France" "" "0" "" "" "" "" "00202664" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "(France)" "" "0" "" "" "" "" "00202665" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "(France)" "" "0" "" "" "" "" "00202666" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202667" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202668" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202669" "" "" "" "2" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "South-Europe" "" "00202670" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202671" "" "" "" "33" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "(France)" "" "0" "" "" "Europe" "" "00202672" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "(France)" "" "0" "" "" "" "" "00202673" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202674" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202675" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "(France)" "" "0" "" "" "" "" "00202676" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "(France)" "" "0" "" "" "" "" "00202677" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202678" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "Among 406 patients with >5 polyps and/or CRC in France" "" "" "Portugal" "" "0" "" "" "" "" "00202679" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "(France)" "" "0" "" "" "" "" "00202680" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202681" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202682" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202683" "" "" "" "2" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202684" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202685" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202686" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202687" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202688" "" "" "" "2" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202689" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202690" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202691" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202692" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202693" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202694" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202695" "" "" "" "3" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "Mediterranean" "" "00202696" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202697" "" "" "" "2" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "Yugoslavia" "" "0" "" "" "" "" "00202698" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202699" "" "" "" "46" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "Europe" "" "00202700" "" "" "" "3" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "Mediterranean" "" "00202701" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202702" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202703" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202704" "" "" "" "3" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "Madagascar" "" "0" "" "" "" "" "00202705" "" "" "" "3" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "Italy" "" "0" "" "" "" "" "00202706" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "Among 406 patients with >5 polyps and/or CRC in France" "" "" "France" "" "0" "" "" "" "" "00202707" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202708" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202709" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202710" "" "" "" "1" "" "02939" "{PMID:Olschwang 2007:17949294}" "No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France" "" "" "" "" "0" "" "" "" "" "00202711" "" "" "" "2" "" "02939" "{PMID:Küry 2007:17931073}" "" "" "" "France" "" "0" "" "" "white" "" "00202712" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "1/1023 excluded as sporadic CRC case because of familial MAP phenotype" "" "" "France" "" "0" "" "" "white" "" "00202713" "" "" "" "20" "" "02939" "{PMID:Küry 2007:17931073}" "2,0% 20/1023 sporadic CRC patients" "" "" "France" "" "0" "" "" "white" "" "00202714" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "" "" "" "France" "" "0" "" "" "white" "" "00202715" "" "" "" "4" "" "02939" "{PMID:Küry 2007:17931073}" "4/1121 healthy controls" "" "" "France" "" "0" "" "" "white" "" "00202716" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "4/1121 healthy controls" "" "" "France" "" "0" "" "" "white" "" "00202717" "" "" "" "16" "" "02939" "{PMID:Küry 2007:17931073}" "" "" "" "France" "" "0" "" "" "white" "" "00202718" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "1/1121 healthy controls" "" "" "France" "" "0" "" "" "white" "" "00202719" "" "" "" "6" "" "02939" "{PMID:Küry 2007:17931073}" "6% of 100 sporadic CRC patients" "" "" "France" "" "0" "" "" "white" "" "00202720" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "Among 100 sporadic CRC patients, No frequency reported." "" "" "France" "" "0" "" "" "white" "" "00202721" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "Among 100 sporadic CRC patients, No frequency reported." "" "" "France" "" "0" "" "" "white" "" "00202722" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "Among 100 sporadic CRC patients, No frequency reported." "" "" "France" "" "0" "" "" "white" "" "00202723" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "Among 100 sporadic CRC patients, No frequency reported." "" "" "France" "" "0" "" "" "white" "" "00202724" "" "" "" "3" "" "02939" "{PMID:Küry 2007:17931073}" "3 of 100 sporadic CRC patients" "" "" "France" "" "0" "" "" "white" "" "00202725" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "Among 100 sporadic CRC patients, No frequency reported." "" "" "France" "" "0" "" "" "white" "" "00202726" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "Among 100 sporadic CRC patients, No frequency reported." "" "" "France" "" "0" "" "" "white" "" "00202727" "" "" "" "19" "" "02939" "{PMID:Küry 2007:17931073}" "20% of 100 sporadic CRC patients" "" "" "France" "" "0" "" "" "white" "" "00202728" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "1 of 100 sporadic CRC patients" "" "" "France" "" "0" "" "" "white" "" "00202729" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "Among 100 sporadic CRC patients, No frequency reported." "" "" "France" "" "0" "" "" "white" "" "00202730" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "Among 100 sporadic CRC patients, No frequency reported." "" "" "France" "" "0" "" "" "white" "" "00202731" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "" "" "" "France" "" "0" "" "" "white" "" "00202732" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "" "" "" "France" "" "0" "" "" "white" "" "00202733" "" "" "" "1" "" "02939" "{PMID:Küry 2007:17931073}" "" "" "" "France" "" "0" "" "" "white" "" "00202734" "" "" "" "0" "" "02939" "{PMID:Küry 2007:17931073}" "" "" "" "France" "" "0" "" "" "white" "" "00202735" "" "" "" "0" "" "02939" "{PMID:Küry 2007:17931073}" "" "" "" "France" "" "0" "" "" "white" "" "00202736" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202737" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202738" "" "" "" "1" "" "00640" "{PMID:Out 2009:19842214}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202739" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202740" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202741" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202742" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202743" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202744" "" "" "" "1" "" "00640" "{PMID:van Puijenbroek 2007:17039270}" "" "" "" "" "" "0" "" "" "" "" "00202745" "" "" "" "1" "" "00640" "{PMID:van Puijenbroek 2007:17039270}" "" "" "" "" "" "0" "" "" "" "" "00202746" "" "" "" "1" "" "02939" "{PMID:Shinmura 2001:11295288}" "among 47 lung cancer cell lines" "" "" "" "" "0" "" "" "" "PMID11295288_9" "00202747" "" "" "" "1" "" "02939" "{PMID:Shinmura 2001:11295288}" "cell line" "" "" "" "" "0" "" "" "" "PMID11295288_10" "00202748" "" "" "" "1" "" "02939" "{PMID:Shinmura 2001:11295288}" "cell line" "" "" "" "" "0" "" "" "" "PMID11295288_11" "00202749" "" "" "" "1" "" "02939" "{PMID:Sliwinski 2009:19300419}" "OR 2.18; 95% CI 1.19-3.97 comparing 96 head and neck cancer patients with 140 controls" "" "" "Poland" "" "0" "" "" "" "" "00202750" "" "" "" "78" "" "02939" "{PMID:Tao 2008:18271935}" "78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8%" "" "" "Japan" "" "0" "" "" "" "" "00202751" "" "" "" "64" "" "02939" "{PMID:Tao 2008:18271935}" "64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0%" "" "" "Japan" "" "0" "" "" "" "" "00202752" "" "" "" "413" "" "02939" "{PMID:Tao 2008:18271935}" "413 (60.3%) heterozygote or homozygote among 685 CRC patients; Haplotype 34.6%" "" "" "Japan" "" "0" "" "" "" "" "00202753" "" "" "" "499" "" "02939" "{PMID:Tao 2008:18271935}" "499 (64.1%) heterozygote or homozygote among 778 control subjects; Haplotype 38.9%" "" "" "Japan" "" "0" "" "" "" "" "00202754" "" "" "" "140" "" "02939" "{PMID:Tao 2008:18271935}" "140 (20.4%) among 685 CRC patients; Haplotype 10.7%" "" "" "Japan" "" "0" "" "" "" "" "00202755" "" "" "" "143" "" "02939" "{PMID:Tao 2008:18271935}" "143 (18.4%) among 778 control subjects; Haplotype 9.8%" "" "" "Japan" "" "0" "" "" "" "" "00202756" "" "" "" "6" "" "02939" "{PMID:Tao 2008:18271935}" "6 (0.9%) among 685 CRC patients. Haplotype 10.7%" "" "" "Japan" "" "0" "" "" "" "" "00202757" "" "" "" "7" "" "02939" "{PMID:Tao 2008:18271935}" "7 (0.9%) among 778 control subjects; Haplotype 9.8%" "" "" "Japan" "" "0" "" "" "" "" "00202758" "" "" "" "23" "" "02939" "{PMID:Tao 2008:18271935}" "23 (3.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 1.6%" "" "" "Japan" "" "0" "" "" "" "" "00202759" "" "" "" "37" "" "02939" "{PMID:Tao 2008:18271935}" "37 (4.8%) heterozygote or homozygote among 778 control subjects; Haplotype 2.5%" "" "" "Japan" "" "0" "" "" "" "" "00202760" "" "" "" "1" "" "02939" "{PMID:Yamaguchi 2002:12056405}" "among 51 lung cancer cell lines" "" "" "" "" "0" "" "" "" "12056405_1" "00202761" "" "" "" "1" "" "02939" "{PMID:Yamaguchi 2002:12056405}" "among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients." "" "" "United States" "" "0" "" "" "" "12056405_2" "00202762" "" "" "" "1" "" "02939" "{PMID:Yamaguchi 2002:12056405}" "among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients." "" "" "United States" "" "0" "" "" "" "12056405_3" "00202763" "" "" "" "2" "" "02939" "{PMID:Yamaguchi 2002:12056405}" "among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients." "" "" "United States" "" "0" "" "" "" "12056405_4" "00202764" "" "" "" "2" "" "02939" "{PMID:Yamaguchi 2002:12056405}" "multiple among 51 lung cancer cell lines" "" "" "" "" "0" "" "" "" "12056405_5" "00202765" "" "" "" "2" "" "02939" "{PMID:Yamaguchi 2002:12056405}" "multiple among 51 lung cancer cell lines" "" "" "" "" "0" "" "" "" "12056405_6" "00202766" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202767" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Belgium" "" "0" "" "" "" "" "00202768" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202769" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202770" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202771" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202772" "" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009b:19527492}; Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202773" "" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009b:19527492}; Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202774" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202775" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202776" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202777" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202778" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202779" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202780" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "(Spain);(Portugal)" "" "0" "" "" "" "" "00202781" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "(Netherlands)" "" "0" "" "" "" "" "00202782" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202783" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "" "" "0" "" "" "North African?" "" "00202784" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202785" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202786" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202787" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202788" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202789" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202790" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202791" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202792" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202793" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202794" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202795" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00202796" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202797" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00202798" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00202799" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "no known clinic, predictive" "" "" "Turkey" "" "0" "" "" "" "" "00202800" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "Turkey" "" "0" "" "" "" "" "00202801" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "no known clinic, sample received from cooperating lab" "" "" "Turkey" "" "0" "" "" "" "" "00202802" "" "" "" "1" "" "02939" "{PMID:Sampson 2003:12853198}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202803" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202804" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "no known clinic, predictive" "" "" "(Germany)" "" "0" "" "" "" "" "00202805" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "diagnosed with carcinoma at age 24, reports show recurrent adenomas of the villous and tubulo-villous kind within the rectum and in all parts of the colon, at age 64 carcinoma of the the appendix, daughter healthy at age 59" "" "" "(Germany)" "" "0" "" "" "" "" "00202806" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "no known clinic, predictive" "" "" "(Germany)" "" "0" "" "" "" "" "00202807" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202808" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202810" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202811" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202812" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202813" "" "" "" "1" "" "00642" "" "no known clinic, predictive" "" "" "(Germany)" "" "0" "" "" "" "" "00202814" "" "" "" "1" "" "02939" "{PMID:Halford 2003:12707038}" "53y right-sided, moderately differentiated, Dukes B cancer, no reported family history of colorectal tumors, multiple small adenomas synchronous with the carcinoma." "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00202815" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "no known clinic, sample received from cooperating lab" "" "" "(Germany)" "" "0" "" "" "" "" "00202816" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202817" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202818" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202819" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202820" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202821" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202822" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202823" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "3 colonoscopies, new adenomas were extracted each time, reports classify them as tubular adenomas" "" "" "(Germany)" "" "0" "" "" "" "" "00202824" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "not yet affected (her mother was diagnosed with attenuated familial polyposis coli, because of a carcinoma coli and recurrent adenomas of the tubulovilli kind). variatns also in mother" "" "" "(Germany)" "" "0" "" "" "" "" "00202825" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "diverticulosis, suspicious of Lynch-Syndrome, carcinogenic polyps of the rectum" "" "" "(Germany)" "" "0" "" "" "" "" "00202827" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202828" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202829" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202830" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202831" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202832" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202833" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202834" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202835" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202836" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "suspicious of aFAP, no family history" "" "" "(Germany)" "" "0" "" "" "" "" "00202837" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202838" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "F" "" "Switzerland" "" "0" "" "" "" "" "00202839" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "no known clinic, predictive" "" "" "(Germany)" "" "0" "" "" "" "" "00202840" "" "" "" "2" "" "00642" "" "2 siblings diagnosed with colon carcinoma at age 55, a sister has had multiple adenomas extracted over time, patient had adenoma herself, father died at the age of 70 due to carcinoma of colon and stomach" "F" "" "(Germany)" "" "0" "" "" "" "" "00202841" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202842" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202844" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202845" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "M" "" "Switzerland" "" "0" "" "" "" "" "00202846" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202847" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202848" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202849" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "" "" "" "(Germany)" "" "0" "" "" "" "" "00202850" "" "" "" "6" "" "00642" "MGZ, Munchen, Germany" "since age 47 repeatedly adenomas extracted (histological reports classify them as hyperplastic polyps in almost all cases)" "" "" "(Germany)" "" "0" "" "" "" "" "00202851" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "adenoma at age 28" "" "" "(Germany)" "" "0" "" "" "" "" "00202852" "" "" "" "1" "" "02939" "{PMID:Barnetson 2007:17956577}" "1 compound heterozygote in 225 endometrial cancer patients from Ireland and Scotland" "F" "" "Ireland" "" "0" "" "" "" "PMID17956577_1" "00202853" "" "" "" "2" "" "02939" "{PMID:Barnetson 2007:17956577}" "2 (0.9%) heterozygotes in 225 endometrial cancer patients from Ireland and Scotland; (0.4% in Scottish population)" "" "" "Ireland" "" "0" "" "" "" "PMID17956577_2-3" "00202854" "" "" "" "3" "" "02939" "{PMID:Barnetson 2007:17956577}" "3 (1.4%) heterozygotes in 225 endometrial cancer patients from Ireland and Scotland; (1.1% in Scottish population)" "" "" "Ireland" "" "0" "" "" "" "PMID17956577_4-6" "00202855" "" "" "" "1" "" "02939" "{PMID:Barnetson 2007:17956577}" "detected in one or more of the 5 patients heterozygous for c.536A>G or c.1187G>A. Exact combinations not specified." "" "" "Ireland" "" "0" "" "" "" "PMID17956577_7" "00202856" "" "" "" "1" "" "02939" "{PMID:Barnetson 2007:17956577}" "detected in one or more of the 5 patients heterozygous for c.536A>G or c.1187G>A. Exact combinations not specified." "" "" "Ireland" "" "0" "" "" "" "PMID17956577_8" "00202857" "" "" "" "1" "" "02939" "{PMID:Barnetson 2007:17956577}" "detected in one or more of the 5 patients heterozygous for c.536A>G or c.1187G>A. Exact combinations not specified." "" "" "Ireland" "" "0" "" "" "" "PMID17956577_9" "00202858" "" "" "" "1" "" "02939" "{PMID:Barnetson 2007:17956577}" "detected in one or more of the 5 patients heterozygous for c.536A>G or c.1187G>A. Exact combinations not specified." "" "" "Ireland" "" "0" "" "" "" "PMID17956577_10" "00202859" "" "" "" "1" "" "02939" "NCBI reference sequence NC_000001.10" "Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226" "" "" "" "" "0" "" "" "" "" "00202860" "" "" "" "1" "" "02939" "NCBI reference sequence NT_032977.9" "Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226" "" "" "" "" "0" "" "" "" "" "00202867" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician" "" "00202868" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician" "" "00202869" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "Family: Two siblings and mother: CRC (age 50s); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician" "" "00202870" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "Family history not available; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician" "" "00202871" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "Family: Sister: AFAP (age?); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician" "" "00202872" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "Family: Two siblings: AFAP+CRC (age?); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician" "" "00202873" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician" "" "00202874" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician" "" "00202875" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "Family: Mother: Breast Cancer(66) Brother:2 CRC (age 46); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Catalonian" "" "00202876" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "Family: Father: CRC (age?); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Catalonian" "" "00202877" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "Family history not available; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Catalonian" "" "00202878" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "Family: Father: CRC (age 40); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Catalonian" "" "00202879" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Catalonian" "" "00202880" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "Family: Cousin: CRC (age 40); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Catalonian" "" "00202881" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "one of the 3/45 (6.7%) patients without APC and without biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician or Catalonian" "PMID19531215_1" "00202882" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "one of the 3/45 (6.7%) patients without APC and without biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician or Catalonian" "PMID19531215_2" "00202883" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "one of the 3/45 (6.7%) patients without APC and without biallelic MUTYH mutations" "" "" "Spain" "" "0" "" "" "Galician or Catalonian" "PMID19531215_3" "00202884" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "" "" "" "Spain" "" "0" "" "" "Galician or Catalonian" "PMID19531215_4" "00202885" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "" "" "" "Spain" "" "0" "" "" "Galician or Catalonian" "PMID19531215_5" "00202886" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "" "" "" "Spain" "" "0" "" "" "Catalonian" "" "00202887" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "" "" "" "Spain" "" "0" "" "" "Galician or Catalonian" "PMID19531215_6" "00202888" "" "" "" "1" "" "02939" "{PMID:Gómez-Fernández 2009:19531215}" "" "" "" "Spain" "" "0" "" "" "Galician or Catalonian" "PMID19531215_7" "00202889" "" "" "" "1" "" "02939" "{PMID:Guillen-Ponce 2009:19998059}" "Mother gastric carcinoma (72); Maternal uncle gastric polyp (80); maternal aunt basocellular carcinoma face and cervical adenocarcinoma (<82); niece sarcoma (<8)" "M" "" "Spain" "" "0" "" "" "" "" "00202890" "" "" "" "1" "" "02939" "{PMID:Ajith Kumar 2008:17874208}" "Monozygotic twin brother: caecal adenocarcinoma (57) + multiple adenomas + small bowel adenocarcinoma (metastasis?); cousin of father bowel cancer (61)" "M" "" "India" "" "0" "" "" "Gujarati (near Pakistan)" "" "00202891" "" "" "" "164" "" "02939" "{PMID:Agalliu 2009:19902366}" "164/1256 (13.1%) heterozygotes among Caucasian prostate cancer patients (7 homozygotes)" "M" "" "United States" "" "0" "" "" "white" "" "00202892" "" "" "" "7" "" "02939" "{PMID:Agalliu 2009:19902366}" "7/1256 (0.6%) homozygotes among Caucasian prostate cancer patients (164 heterozygotes)" "M" "" "United States" "" "0" "" "" "white" "" "00202893" "" "" "" "3" "" "02939" "{PMID:Agalliu 2009:19902366}" "3/143 (2.1%) heterozygotes among African-American prostate cancer patients (0 homozygotes)" "M" "" "United States" "" "0" "" "" "African-American" "" "00202894" "" "" "" "173" "" "02939" "{PMID:Agalliu 2009:19902366}" "173/1248 (13.9%) heterozygotes among Caucasian controls (5 homozygotes)" "M" "" "United States" "" "0" "" "" "white" "" "00202895" "" "" "" "5" "" "02939" "{PMID:Agalliu 2009:19902366}" "5/1248 (0.4%) homozygotes among Caucasian controls (173 heterozygotes)" "M" "" "United States" "" "0" "" "" "white" "" "00202896" "" "" "" "4" "" "02939" "{PMID:Agalliu 2009:19902366}" "4/79 (5.1%) heterozygotes among African-American controls (0 homozygotes)" "M" "" "United States" "" "0" "" "" "African-American" "" "00202897" "" "" "" "455" "" "02939" "{PMID:Agalliu 2009:19902366}" "455/1260 (36.1%) heterozygotes among Caucasian prostate cancer patients (85 homozygotes)" "M" "" "United States" "" "0" "" "" "white" "" "00202898" "" "" "" "85" "" "02939" "{PMID:Agalliu 2009:19902366}" "85/1260 (6.8%) homozygotes among Caucasian prostate cancer patients (455 heterozygotes)" "M" "" "United States" "" "0" "" "" "white" "" "00202899" "" "" "" "71" "" "02939" "{PMID:Agalliu 2009:19902366}" "71/145 (49.0%) heterozygotes among African-American prostate cancer patients (40 homozygotes)" "M" "" "United States" "" "0" "" "" "African-American" "" "00202900" "" "" "" "40" "" "02939" "{PMID:Agalliu 2009:19902366}" "40/145 (27.6%) homozygotes among African-American prostate cancer patients (71 heterozygotes)" "M" "" "United States" "" "0" "" "" "African-American" "" "00202901" "" "" "" "485" "" "02939" "{PMID:Agalliu 2009:19902366}" "485/1247 (38.9%) heterozygotes among Caucasian controls (76 homozygotes)" "M" "" "United States" "" "0" "" "" "white" "" "00202902" "" "" "" "76" "" "02939" "{PMID:Agalliu 2009:19902366}" "76/1247 (6.1%) homozygotes among Caucasian controls (485 heterozygotes)" "M" "" "United States" "" "0" "" "" "white" "" "00202903" "" "" "" "32" "" "02939" "{PMID:Agalliu 2009:19902366}" "32/79 (40.5%) heterozygotes among African-American controls (23 homozygotes)" "M" "" "United States" "" "0" "" "" "African-American" "" "00202904" "" "" "" "23" "" "02939" "{PMID:Agalliu 2009:19902366}" "23/79 (29.1%) homozygotes among African-American controls (32 heterozygotes)" "M" "" "United States" "" "0" "" "" "African-American" "" "00202905" "" "" "" "1" "" "02939" "{PMID:Agalliu 2009:19902366}" "" "" "" "" "" "0" "" "" "" "" "00202906" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "39/48 FAP patients (>100 adenomas): APC mutation; 3/9 (33%) of APC negative FAP patients: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202907" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "39/48 FAP patients (>100 adenomas): APC mutation; 3/9 (33%) of APC negative FAP patients: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202908" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "39/48 FAP patients (>100 adenomas): APC mutation; 3/9 (33%) of APC negative FAP patients: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202909" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202910" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202911" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202912" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202913" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202914" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202915" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202916" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202917" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202918" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202919" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202920" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202921" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202922" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202923" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202924" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202925" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202926" "" "" "" "1" "" "02939" "{PMID:Filipe 2009:19793053}" "0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations" "" "" "Portugal" "" "0" "" "" "" "" "00202927" "" "" "" "1" "" "02939" "{PMID:Riegert-Johnson 2007:18294051}" "among 229 patients with CRC diagnosed < 50 years, MSS or MSI-L (12 earlier described by Wang et al. 2004); 6 (3%) monoallelic for Tyr179Cys or Gly396Asp; 4 (2%) biallelic" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00202928" "" "" "" "1" "" "02939" "{PMID:Riegert-Johnson 2007:18294051}" "among 229 patients with CRC diagnosed < 50 years, MSS or MSI-L (12 earlier described by Wang et al. 2004); 6 (3%) monoallelic for Tyr179Cys or Gly396Asp; 4 (2%) biallelic" "F" "" "United States" "" "0" "" "" "" "" "00202929" "" "" "" "1" "" "02939" "{PMID:Riegert-Johnson 2007:18294051}, {PMID:Wang 2004:15236166}" "Riegert-Johnson et al. 2007: 229 with CRC < 50 y, MSS or MSI-L; 6 (3%) monoallelic; 4 (2%) biallelic; 12 also described by Wang et al. 2004: 116 with CRC <50 y; 2 (1.7%) monoallelic; 2 (1.7%) biallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_14" "00202930" "" "" "" "1" "" "02939" "{PMID:Riegert-Johnson 2007:18294051}" "among 229 patients with CRC diagnosed < 50 years, MSS or MSI-L (12 earlier described by Wang et al. 2004); 6 (3%) monoallelic for Tyr179Cys or Gly396Asp; 4 (2%) biallelic" "F" "" "United States" "" "0" "" "" "" "" "00202931" "" "" "" "1" "" "02939" "{PMID:Riegert-Johnson 2007:18294051}, {PMID:Wang 2004:15236166}" "Riegert-Johnson et al. 2007: 229 with CRC < 50 y, MSS or MSI-L; 6 (3%) monoallelic; 4 (2%) biallelic; 12 also described by Wang et al. 2004: 116 with CRC <50 y; 2 (1.7%) monoallelic; 2 (1.7%) biallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_15" "00202932" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 400 individuals without CRC, colonoscopy at average age 60 y (range 17-87). 4/313 (1.3%) with 0 polyps monoallelic for Tyr179Cys or Gly396Asp and 1/87 (1.1%) with 1-3 polyps monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_1" "00202933" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 400 individuals without CRC, colonoscopy at average age 60 y (range 17-87). 4/313 (1.3%) with 0 polyps monoallelic for Tyr179Cys or Gly396Asp and 1/87 (1.1%) with 1-3 polyps monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_2" "00202934" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 400 individuals without CRC, colonoscopy at average age 60 y (range 17-87). 4/313 (1.3%) with 0 polyps monoallelic for Tyr179Cys or Gly396Asp and 1/87 (1.1%) with 1-3 polyps monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_3" "00202935" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 400 individuals without CRC, colonoscopy at average age 60 y (range 17-87). 4/313 (1.3%) with 0 polyps monoallelic for Tyr179Cys or Gly396Asp and 1/87 (1.1%) with 1-3 polyps monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_4" "00202936" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 400 individuals without CRC, colonoscopy at average age 60 y (range 17-87). 4/313 (1.3%) with 0 polyps monoallelic for Tyr179Cys or Gly396Asp and 1/87 (1.1%) with 1-3 polyps monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_5" "00202937" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_6" "00202938" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_7" "00202939" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_8" "00202940" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_9" "00202941" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_10" "00202942" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_11" "00202943" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_12" "00202944" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_13" "00202945" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_16" "00202946" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_17" "00202947" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_18" "00202948" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_19" "00202949" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_20" "00202950" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_21" "00202951" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_22" "00202952" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_23" "00202953" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_24" "00202954" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_25" "00202955" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_26" "00202956" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_27" "00202957" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_28" "00202958" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "F" "" "United States" "" "0" "" "" "" "PMID15236166_29" "00202959" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_30" "00202960" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_31" "00202961" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_34" "00202962" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_35" "00202963" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_36" "00202964" "" "" "" "1" "" "02939" "{PMID:Wang 2004:15236166}" "among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic" "M" "" "United States" "" "0" "" "" "" "PMID15236166_37" "00202965" "" "" "" "1" "" "02939" "{PMID:Fricker and Payne 2004:15176384}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00202966" "" "" "" "1" "" "02939" "{PMID:Kim 2004:15449173}" "Among 246 sporadic CRC patients" "" "" "Korea, South (Republic)" "" "0" "" "" "" "15449173_1" "00202967" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2005:15578699}" "Total 555 CRC patients: 4 monoallelic (0.7%) and 2 biallelic (0.3%) Tyr179Cys and/or Gly396Asp; Tyr179Cys/-: 0/266 Jewish , 2/238 Non-Jewish Caucasian, 0/17 Caucasian/Hispanic, 0/34 other CRC patients from New York, US" "" "" "United States" "" "0" "" "" "white" "15578699_1" "00202968" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2005:15578699}" "Total 555 CRC patients: 4 monoallelic (0.7%) and 2 biallelic (0.3%) Tyr179Cys and/or Gly396Asp; Tyr179Cys/-: 0/266 Jewish , 2/238 Non-Jewish Caucasian, 0/17 Caucasian/Hispanic, 0/34 other CRC patients from New York, US" "" "" "United States" "" "0" "" "" "white" "15578699_2" "00202969" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2005:15578699}" "Total 555 CRC patients: 4 monoallelic (0.7%) and 2 biallelic (0.3%) Tyr179Cys and/or Gly396Asp; Gly396Asp/-: 0/266 Jewish , 2/238 Non-Jewish Caucasian, 0/17 Caucasian/Hispanic, 0/34 other CRC patients from New York, US" "" "" "United States" "" "0" "" "" "white" "15578699_3" "00202970" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2005:15578699}" "Total 555 CRC patients: 4 monoallelic (0.7%) and 2 biallelic (0.3%) Tyr179Cys and/or Gly396Asp; Gly396Asp/-: 0/266 Jewish , 2/238 Non-Jewish Caucasian, 0/17 Caucasian/Hispanic, 0/34 other CRC patients from New York, US" "" "" "United States" "" "0" "" "" "white" "15578699_4" "00202971" "" "" "" "2" "" "02939" "{PMID:Peterlongo 2005:15578699}" "Total 918 controls: 7 monoallelic (0.8%) Tyr179Cys or Gly396Asp, no biallelic; Tyr179Cys/-: 0/450 Jewish , 2/360 Non-Jewish Caucasian, 0/32 Caucasian/Hispanic, 0/76 other CRC patients from New York, US" "" "" "United States" "" "0" "" "" "white" "15578699_5" "00202972" "" "" "" "4" "" "02939" "{PMID:Peterlongo 2005:15578699}" "Total 918 controls: 7 monoallelic (0.8%) Tyr179Cys or Gly396Asp, no biallelic; Gly396Asp/-: 0/450 Jewish , 4/360 Non-Jewish Caucasian, 1/32 Caucasian/Hispanic, 0/76 other CRC patients from New York, US" "" "" "United States" "" "0" "" "" "white" "15578699_6" "00202973" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2005:15578699}" "Total 918 controls: 7 monoallelic (0.8%) Tyr179Cys or Gly396Asp, no biallelic; Gly396Asp/-: 0/450 Jewish , 4/360 Non-Jewish Caucasian, 1/32 Caucasian/Hispanic, 0/76 other CRC patients from New York, US" "" "" "United States" "" "0" "" "" "white" "15578699_7" "00202974" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2005:15578699}" "Total 555 CRC patients: 4 monoallelic (0.7%) and 2 biallelic (0.3%) Tyr179Cys and/or Gly396Asp; Tyr179Cys/Gly396Asp: 0/266 Jewish , 1/238 Non-Jewish Caucasian, 0/17 Caucasian/Hispanic, 0/34 other CRC patients from New York, US" "" "" "United States" "" "0" "" "" "white" "15578699_8" "00202975" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2005:15578699}" "Total 555 CRC patients: 4 monoallelic (0.7%) and 2 biallelic (0.3%) Tyr179Cys and/or Gly396Asp; Gly396Asp/Gly396Asp: 0/266 Jewish , 1/238 Non-Jewish Caucasian, 0/17 Caucasian/Hispanic, 0/34 other CRC patients from New York, US" "" "" "United States" "" "0" "" "" "white" "15578699_9" "00202976" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "" "" "" "Australia" "" "0" "" "" "" "15761860_20" "00202977" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "F" "" "Australia" "" "0" "" "" "" "15761860_1" "00202978" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "F" "" "Australia" "" "0" "" "" "" "15761860_4" "00202979" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "F" "" "Australia" "" "0" "" "" "" "15761860_5" "00202980" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "F" "" "Australia" "" "0" "" "" "" "15761860_8" "00202981" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_10" "00202982" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_9" "00202983" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_2" "00202984" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "F" "" "Australia" "" "0" "" "" "" "15761860_3" "00202985" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "F" "" "Australia" "" "0" "" "" "" "15761860_6" "00202986" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_7" "00202987" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_11" "00202988" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_12" "00202989" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_13" "00202990" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_14" "00202991" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "F" "" "Australia" "" "0" "" "" "" "15761860_15" "00202992" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "F" "" "Australia" "" "0" "" "" "" "15761860_16" "00202993" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_17" "00202994" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "M" "" "Australia" "" "0" "" "" "" "15761860_18" "00202995" "" "" "" "1" "" "02939" "{PMID:Kairupan 2005:15761860}" "among 120 APC mutation negative Australian polyposis patients" "F" "" "Australia" "" "0" "" "" "" "15761860_19" "00202996" "" "" "" "1" "" "02939" "{PMID:Miyaki 2005:15890374}" "Among 35 Japanese patients with multiple colorectal adenomas,without vertical transmission of colorectal adenomas or carcinomas, small number of adenomas, synchronous CRC and without detectable germline APC mutation" "M" "" "Japan" "" "0" "" "" "" "15890374_PLK358" "00202997" "" "" "" "1" "" "02939" "{PMID:Miyaki 2005:15890374}" "Among 35 Japanese patients with multiple colorectal adenomas,without vertical transmission of colorectal adenomas or carcinomas, small number of adenomas, synchronous CRC and without detectable germline APC mutation" "M" "" "Japan" "" "0" "" "" "" "15890374_PLK68" "00202998" "" "" "" "1" "" "02939" "{PMID:Miyaki 2005:15890374}" "Among 35 Japanese patients with multiple colorectal adenomas,without vertical transmission of colorectal adenomas or carcinomas, small number of adenomas, synchronous CRC and without detectable germline APC mutation" "M" "" "Japan" "" "0" "" "" "" "15890374_PLK174" "00202999" "" "" "" "1" "" "02939" "{PMID:Miyaki 2005:15890374}" "Among 35 Japanese patients with multiple colorectal adenomas,without vertical transmission of colorectal adenomas or carcinomas, small number of adenomas, synchronous CRC and without detectable germline APC mutation" "M" "" "Japan" "" "0" "" "" "" "15890374_PLK285" "00203000" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "2,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "" "" "Sweden" "" "0" "" "" "" "15943555_84_1" "00203001" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "9,2% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "" "" "Sweden" "" "0" "" "" "" "15943555_84_2" "00203002" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "1.1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "" "" "Sweden" "" "0" "" "" "" "15943555_84_3" "00203003" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "16,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "" "" "Sweden" "" "0" "" "" "" "15943555_84_4" "00203004" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "4,3% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "" "" "Sweden" "" "0" "" "" "" "15943555_84_5" "00203005" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "42,6% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "" "" "Sweden" "" "0" "" "" "" "15943555_84_6" "00203006" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "1.1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "" "" "Sweden" "" "0" "" "" "" "15943555_84_7" "00203007" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "1.1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "" "" "Sweden" "" "0" "" "" "" "15943555_84_8" "00203008" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "" "" "" "Sweden" "" "0" "" "" "" "15943555_84_9" "00203009" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "2,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "" "" "Sweden" "" "0" "" "" "" "15943555_84_10" "00203010" "" "" "" "64" "" "02939" "{PMID:Zhou 2005:15943555}" "64/188 (34,0%) Swedish controls (blood donors)" "" "" "Sweden" "" "0" "" "" "" "15943555_controls_het" "00203011" "" "" "" "9" "" "02939" "{PMID:Zhou 2005:15943555}" "9/188 (4,8%) Swedish controls (blood donors)" "" "" "Sweden" "" "0" "" "" "" "15943555_controls_hom" "00203012" "" "" "" "128" "" "02939" "{PMID:Zhou 2005:15943555}" "128/412 (31.1%) Swedish sporadic CRC patients" "" "" "Sweden" "" "0" "" "" "" "15943555_patients_het" "00203013" "" "" "" "23" "" "02939" "{PMID:Zhou 2005:15943555}" "23/412 (5,6%) Swedish sporadic CRC patients" "" "" "Sweden" "" "0" "" "" "" "15943555_patients_hom" "00203014" "" "" "" "4" "" "02939" "{PMID:Zhou 2005:15943555}" "4/438 (0.91%) informative Swedish sporadic CRC patients; Not in 84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative" "" "" "Sweden" "" "0" "" "" "" "15943555_patients_Y179C" "00203015" "" "" "" "2" "" "02939" "{PMID:Zhou 2005:15943555}" "2/469 (0.43%) informative Swedish bloodbank controls; Not in 84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative" "" "" "Sweden" "" "0" "" "" "" "15943555_controls_Y179C" "00203016" "" "" "" "2" "" "02939" "{PMID:Zhou 2005:15943555}" "2/447 (0.45%) informative Swedish sporadic CRC patients; Not in 84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative" "" "" "Sweden" "" "0" "" "" "" "15943555_patients_G396D" "00203017" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "" "" "" "Sweden" "" "0" "" "" "" "15943555_controls_G396D" "00203018" "" "" "" "3" "" "02939" "{PMID:Zhou 2005:15943555}" "3/447 informative Swedish sporadic CRC patients" "" "" "Sweden" "" "0" "" "" "" "15943555_R437Q" "00203019" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "" "" "" "Sweden" "" "0" "" "" "" "15943555_R437P" "00203020" "" "" "" "1" "" "02939" "{PMID:Zhou 2005:15943555}" "" "" "" "Sweden" "" "0" "" "" "" "15943555_R437R" "00203021" "" "" "" "1" "" "02939" "{PMID:Wynter 2005:16152625}" "" "F" "" "Australia" "" "0" "" "" "" "16152625_II.4" "00203022" "" "" "" "1" "" "02939" "{PMID:Wynter 2005:16152625}" "" "M" "" "Australia" "" "0" "" "" "" "16152625_II.1" "00203023" "" "" "" "1" "" "02939" "{PMID:Ponti 2005:16207212}, {PMID:Ponti 2007:17273161}" "brother 1 adenoma (34); sister 1 adenoma (36); father non-Hodgkin lymphoma (<68); paternal uncle bladder cancer (<57); daughter sebaceous adenomas (infancy)" "F" "" "Italy" "" "0" "" "" "" "16207212_index" "00203024" "" "" "" "1" "" "02939" "{PMID:Ponti 2005:16207212}, {PMID:Ponti 2007:17273161}" "daughter of #1010507" "F" "" "Italy" "" "0" "" "" "" "16207212_daughter" "00203025" "" "" "" "1" "" "02939" "{PMID:Ponti 2005:16207212}" "sister of #1010507" "F" "" "Italy" "" "0" "" "" "" "16207212_sister" "00203026" "" "" "" "1" "" "02939" "{PMID:Russell 2006:16287072}" "Among 79 Swiss APC mutation negative polyposis patients" "" "" "Switzerland" "" "0" "" "" "" "16287072_c64_patients" "00203027" "" "" "" "1" "" "02939" "{PMID:Russell 2006:16287072}" "Among 100 Swiss controls" "" "" "Switzerland" "" "0" "" "" "" "16287072_c64_controls" "00203028" "" "" "" "1" "" "02939" "{PMID:Russell 2006:16287072}" "Among 79 Swiss APC mutation negative polyposis patients" "" "" "Switzerland" "" "0" "" "" "" "16287072_c1014_patients" "00203029" "" "" "" "1" "" "02939" "{PMID:Russell 2006:16287072}" "Among 100 Swiss controls" "" "" "Switzerland" "" "0" "" "" "" "16287072_c1014_controls" "00203030" "" "" "" "1" "" "00645" "{PMID:Sieber 2003:12606733}, {PMID:Russell 2006:16287072}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00203031" "" "" "" "1" "" "00645" "{PMID:Sieber 2003:12606733}, {PMID:Russell 2006:16287072}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00203032" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "F" "" "Switzerland" "" "0" "" "" "" "" "00203033" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "M" "" "Switzerland" "" "0" "" "" "" "" "00203034" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "M" "" "Switzerland" "" "0" "" "" "" "" "00203035" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "M" "" "Switzerland" "" "0" "" "" "" "" "00203036" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "F" "" "Switzerland" "" "0" "" "" "" "" "00203037" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "F" "" "Switzerland" "" "0" "" "" "" "" "00203038" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "M" "" "Switzerland" "" "0" "" "" "" "" "00203039" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "M" "" "Switzerland" "" "0" "" "" "" "" "00203040" "" "" "" "1" "" "00645" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "F" "" "Switzerland" "" "0" "" "" "" "" "00203041" "" "" "" "1" "" "02939" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "F" "" "Switzerland" "" "0" "" "" "" "" "00203042" "" "" "" "1" "" "02939" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "M" "" "Switzerland" "" "0" "" "" "" "" "00203043" "" "" "" "1" "" "02939" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "F" "" "Switzerland" "" "0" "" "" "" "" "00203044" "" "" "" "1" "" "02939" "{PMID:Russell 2006:16287072}" "79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP" "M" "" "Switzerland" "" "0" "" "" "" "" "00203045" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Found among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect" "" "" "France" "" "0" "" "" "" "16941501_c64" "00203046" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Found among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect" "" "" "France" "" "0" "" "" "" "16941501_c1014" "00203047" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Found among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect" "" "" "France" "" "0" "" "" "" "16941501_c1544" "00203048" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected" "" "" "France" "" "0" "" "" "" "16941501_Li-1" "00203049" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected" "" "" "France" "" "0" "" "" "" "16941501_Li-5" "00203050" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected" "F" "" "France" "" "0" "" "" "" "16941501_Li-7" "00203051" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected" "M" "" "France" "" "0" "" "" "" "16941501_Li-13" "00203052" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected" "M" "" "France" "" "0" "" "" "" "16941501_Li-15" "00203053" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected" "M" "" "France" "" "0" "" "" "" "16941501_Li-19" "00203054" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected" "F" "" "France" "" "0" "" "" "" "16941501_Li-22" "00203055" "" "" "" "1" "" "00640" "{PMID:Lejeune 2006:16941501}" "Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected" "M" "" "France" "" "0" "" "" "" "16941501_Li-31" "00203056" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "M" "" "Italy" "" "0" "" "" "" "16890597_1" "00203057" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_2" "00203058" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "M" "" "Italy" "" "0" "" "" "" "16890597_3" "00203059" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "M" "" "Italy" "" "0" "" "" "" "16890597_4" "00203060" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "M" "" "Italy" "" "0" "" "" "" "16890597_5" "00203061" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_6" "00203062" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "M" "" "Italy" "" "0" "" "" "" "16890597_7" "00203063" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_8" "00203064" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "M" "" "Italy" "" "0" "" "" "" "16890597_9" "00203065" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_10" "00203066" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_11" "00203067" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "M" "" "Italy" "" "0" "" "" "" "16890597_12" "00203068" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_13" "00203069" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_14" "00203070" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_15" "00203071" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_16" "00203072" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_17" "00203073" "" "" "" "1" "" "02939" "{PMID:Di Gregorio 2006:16890597}" "IHC study of 20 tumor samples from 18 biallelic MUTYH carriers" "F" "" "Italy" "" "0" "" "" "" "16890597_18" "00203074" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17252231}" "Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "17252231_R170Q" "00203075" "" "" "" "5" "" "02939" "{PMID:Kim 2007:17252231}" "Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls" "" "" "Korea, South (Republic)" "" "0" "" "" "" "17252231_A359V_patients" "00203076" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17252231}" "Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls" "" "" "Korea, South (Republic)" "" "0" "" "" "" "17252231_A359V_control" "00203077" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17252231}" "Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls" "" "" "Korea, South (Republic)" "" "0" "" "" "" "17252231_P18L_G25D_het" "00203078" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17252231}" "Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls" "" "" "Korea, South (Republic)" "" "0" "" "" "" "17252231_P18L_G25D_hom" "00203079" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17252231}" "Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls" "" "" "Korea, South (Republic)" "" "0" "" "" "" "17252231_Q324H_patients_het" "00203080" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17252231}" "Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls" "" "" "Korea, South (Republic)" "" "0" "" "" "" "17252231_Q324H_patients_hom" "00203081" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17252231}" "Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls" "" "" "Korea, South (Republic)" "" "0" "" "" "" "17252231_Q324H_controls_het" "00203082" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17252231}" "Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls" "" "" "Korea, South (Republic)" "" "0" "" "" "" "17252231_Q324H_controls_hom" "00203083" "" "" "" "1" "" "02939" "{PMID:Ponti 2007:17273161}" "Attenuated colonic polyposis" "" "" "Italy" "" "0" "" "" "" "17273161_fam_1_1" "00203084" "" "" "" "1" "" "02939" "{PMID:Ponti 2007:17273161}" "Attenuated colonic polyposis" "" "" "Italy" "" "0" "" "" "" "17273161_fam_1_2" "00203085" "" "" "" "1" "" "02939" "{PMID:Ponti 2007:17273161}" "Attenuated colonic polyposis" "" "" "Italy" "" "0" "" "" "" "17273161_fam_3_1" "00203086" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17703316}" "T3N0; Among 62 polyposis patients (46: 10 to 99 adenomatous colorectal polyps + 16: 100 or more polyps and no identified APC germline mutations); 2x biallelic and 3x monoallelic MUTYH variants" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00203087" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17703316}" "T3N1; Among 62 polyposis patients (46: 10 to 99 adenomatous colorectal polyps + 16: 100 or more polyps and no identified APC germline mutations); 2x biallelic and 3x monoallelic MUTYH variants" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00203088" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17703316}" "Among 62 polyposis patients (46: 10 to 99 adenomatous colorectal polyps + 16: 100 or more polyps and no identified APC germline mutations); 2x biallelic and 3x monoallelic MUTYH variants" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00203089" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17703316}" "Among 62 polyposis patients (46: 10 to 99 adenomatous colorectal polyps + 16: 100 or more polyps and no identified APC germline mutations); 2x biallelic and 3x monoallelic MUTYH variants" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00203090" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17703316}" "T2N0; Among 62 polyposis patients (46: 10 to 99 adenomatous colorectal polyps + 16: 100 or more polyps and no identified APC germline mutations); 2x biallelic and 3x monoallelic MUTYH variants" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00203091" "" "" "" "4" "" "02939" "{PMID:Kim 2007:17703316}" "heterozygous in 4/96 normal Korean control individuals." "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00203092" "" "" "" "3" "" "02939" "{PMID:Kim 2007:17703316}" "heterozygous in 3/96 normal Korean control individuals." "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00203093" "" "" "" "1" "" "02939" "{PMID:Kim 2007:17703316}" "heterozygous in 1/96 normal Korean control individuals." "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00203094" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203095" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203096" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "F" "" "Japan" "" "0" "" "" "" "" "00203097" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203098" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203099" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203100" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203101" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203102" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203103" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "F" "" "Japan" "" "0" "" "" "" "" "00203104" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203105" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203106" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "F" "" "Japan" "" "0" "" "" "" "" "00203107" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "F" "" "Japan" "" "0" "" "" "" "" "00203108" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "M" "" "Japan" "" "0" "" "" "" "" "00203109" "" "" "" "1" "" "02939" "{PMID:Yanaru-Fujisawa 2008:18422726}" "66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H" "F" "" "Japan" "" "0" "" "" "" "" "00203110" "" "" "" "4" "" "02939" "{PMID:Peterlongo 2006:16774938}" "967 controls; tested Y179C/G396D/480delE; 16/967 (1.6%) monoallelic; NY non-Jewish: 7/468; NY Jewish: 0/153; Madrid: 6/196; Milan: 3/150; 4 Y179C, 12 G396D, 0 480delE;" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_controls_Y179C" "00203111" "" "" "" "12" "" "02939" "{PMID:Peterlongo 2006:16774938}" "967 controls; tested Y179C/G396D/480delE; 16/967 (1.6%) monoallelic; NY non-Jewish: 7/468; NY Jewish: 0/153; Madrid: 6/196; Milan: 3/150; 4 Y179C, 12 G396D, 0 480delE;" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_controls_G396D" "00203112" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_-165" "00203113" "" "" "" "4" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_-127" "00203114" "" "" "" "3" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_157+30" "00203115" "" "" "" "2" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_388+56" "00203116" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_504+35_hom" "00203117" "" "" "" "16" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_504+35_het" "00203118" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_690+21" "00203119" "" "" "" "2" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1187-27" "00203120" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1324-34" "00203121" "" "" "" "2" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1477-125_hom" "00203122" "" "" "" "17" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1477-125_het" "00203123" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1477-40_hom" "00203124" "" "" "" "16" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1477-40_het" "00203125" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1477-28" "00203126" "" "" "" "7" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_64" "00203127" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+" "" "" "United States" "" "0" "" "" "Ireland;Jewish" "" "00203128" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+" "" "" "Spain" "" "0" "" "" "" "" "00203129" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_700" "00203130" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1013" "00203131" "" "" "" "9" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1014_hom" "00203132" "" "" "" "22" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1014_het" "00203133" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+" "" "" "Italy" "" "0" "" "" "" "" "00203134" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+" "" "" "United States" "" "0" "" "" "Ireland" "" "00203135" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+" "" "" "Spain" "" "0" "" "" "" "" "00203136" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+" "" "" "Spain" "" "0" "" "" "" "" "00203137" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+" "" "" "Italy" "" "0" "" "" "" "" "00203138" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients 20 or less polyps and/or CRC; families 3 or more CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1258" "00203139" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients 20 or less polyps and/or CRC; families 3 or more CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1431" "00203140" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+" "" "" "Italy" "" "0" "" "" "" "" "00203141" "" "" "" "9" "" "02939" "{PMID:Peterlongo 2006:16774938}" "Among 80 patients 20 or less polyps and/or CRC; families 3 or more CRCs; 62 NY; 5 Madrid; 13 Milan" "" "" "United States" "" "0" "" "" "Spain, Italy" "16774938_patients_1544" "00203142" "" "" "" "1" "" "02939" "{PMID:Peterlongo 2006:16774938}" "137 patients below 21 polyps / CRC; fam above 2 CRCs; 63 NY; 38 Madrid; 36 Milan; 80: SEQ ex1-16 (62+5+13); 57: test Y179C/G396D/480delE; 6/137 +/-, 3 +/+; NY non-Jewish: 2/40 +/-, 1/40 +/+; NY Jewish: 0/23; MD: 3/38 +/-; MI: 1/36 +/-, 2/36 +/+" "" "" "United States" "" "0" "" "" "UK; NL; DE" "" "00203143" "" "" "" "1" "" "02939" "{PMID:Bougatef 2008:18425378}" "Tested 4 polyposis patients for APC and MUTYH; 3 had APC mutations; one is this patient" "M" "" "Tunisia" "" "0" "" "" "" "" "00203144" "" "" "" "1" "" "02939" "{PMID:Dallosso 2008:18515411}" "33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003" "M" "" "United Kingdom (Great Britain);New Zealand" "" "0" "" "" "" "" "00203145" "" "" "" "1" "" "02939" "{PMID:Dallosso 2008:18515411}" "33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003" "F" "" "United Kingdom (Great Britain);New Zealand" "" "0" "" "" "" "" "00203146" "" "" "" "1" "" "02939" "{PMID:Dallosso 2008:18515411}" "33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003" "M" "" "United Kingdom (Great Britain);New Zealand" "" "0" "" "" "" "" "00203147" "" "" "" "1" "" "02939" "{PMID:Dallosso 2008:18515411}" "33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003" "M" "" "United Kingdom (Great Britain);New Zealand" "" "0" "" "" "" "" "00203148" "" "" "" "1" "" "02939" "{PMID:Dallosso 2008:18515411}" "33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003" "M" "" "United Kingdom (Great Britain);New Zealand" "" "0" "" "" "" "" "00203149" "" "" "" "1" "" "02939" "{PMID:Dallosso 2008:18515411}" "33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003" "F" "" "United Kingdom (Great Britain);New Zealand" "" "0" "" "" "" "" "00203150" "" "" "" "1" "" "02939" "{PMID:Dallosso 2008:18515411}" "33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003" "M" "" "United Kingdom (Great Britain);New Zealand" "" "0" "" "" "" "" "00203151" "" "" "" "1" "" "02939" "{PMID:Dallosso 2008:18515411}" "33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003" "M" "" "United Kingdom (Great Britain);New Zealand" "" "0" "" "" "" "" "00203152" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_1" "00203153" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_2" "00203154" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_3" "00203155" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_4" "00203156" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_5" "00203157" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_6" "00203158" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_8" "00203159" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_9" "00203160" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_13" "00203161" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_14" "00203162" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_18" "00203163" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_19" "00203164" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_20" "00203165" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_21" "00203166" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_22" "00203167" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_23" "00203168" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_24" "00203169" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_25" "00203170" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_26" "00203171" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_27" "00203172" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_28" "00203173" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_29" "00203174" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_30" "00203175" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_31" "00203176" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_32" "00203177" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_33" "00203178" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_34" "00203179" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_35" "00203180" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_36" "00203181" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_37" "00203182" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_38" "00203183" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "F" "" "Canada" "" "0" "" "" "" "15523092_39" "00203184" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_40" "00203185" "" "" "" "1" "" "02939" "{PMID:Croitoru 2004:15523092}" "" "M" "" "Canada" "" "0" "" "" "" "15523092_41" "00203186" "" "" "" "4" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "" "" "Canada" "" "0" "" "" "" "15523092_controls_Y165C" "00203187" "" "" "" "17" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "" "" "" "Canada" "" "0" "" "" "" "15523092_controls_G382D" "00203188" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "M" "" "(Canada);Portugal" "" "0" "" "" "Portugal" "17219385_1_proband" "00203189" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "F" "" "(Canada);Portugal" "" "0" "" "" "Portugal" "17219385_2" "00203190" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "F" "" "(Canada);United Kingdom (Great Britain)" "" "0" "" "" "UK" "17219385_3" "00203191" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "F" "" "(Canada);Poland" "" "0" "" "" "Poland" "17219385_4" "00203192" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "F" "" "(Canada);Italy" "" "0" "" "" "Italy" "17219385_5_proband" "00203193" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "F" "" "(Canada);Italy" "" "0" "" "" "Italy" "17219385_6" "00203194" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "" "" "Canada" "" "0" "" "" "" "17219385_V22M_hom" "00203195" "" "" "" "2" "" "02939" "{PMID:Croitoru 2007:17219385}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "" "" "Canada" "" "0" "" "" "" "17219385_V22M_het" "00203196" "" "" "" "2" "" "02939" "{PMID:Croitoru 2007:17219385}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "" "" "Canada" "" "0" "" "" "" "17219385_Q324H_hom" "00203197" "" "" "" "5" "" "02939" "{PMID:Croitoru 2007:17219385}" "Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative" "" "" "Canada" "" "0" "" "" "" "17219385_Q324H_het" "00203198" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}" "Son of #1010676" "M" "" "Canada" "" "0" "" "" "Portugal" "17219385_1_son" "00203199" "" "" "" "1" "" "02939" "{PMID:Croitoru 2007:17219385}, {PMID:O Shea 2008:18564191}" "Nephew of #1010680" "M" "" "Canada" "" "0" "" "" "Italy" "17219385_5_nephew" "00203200" "" "" "" "7" "" "02939" "{PMID:Croitoru 2007:17219385}" "7 relatives of #1010680 with 1103delC/-: unaffected" "" "" "Canada" "" "0" "" "" "Italy" "17219385_5_relatives_1103del" "00203201" "" "" "" "7" "" "02939" "{PMID:Croitoru 2007:17219385}" "7 relatives of #1010680 with Y90X/-: 2 with 1 polyp; 2 unaffected; 2 AFAP; 1 CRC" "" "" "Canada" "" "0" "" "" "Italy" "17219385_5_relatives_90X" "00203202" "" "" "" "1" "" "02939" "{PMID:Goto 2008:18776649}" "Among 23 Japanese gastric cancer patients" "" "" "Japan" "" "0" "" "" "" "" "00203203" "" "" "" "7" "" "02939" "{PMID:Goto 2008:18776649}" "Among 23 Japanese gastric cancer patients" "" "" "Japan" "" "0" "" "" "" "" "00203204" "" "" "" "5" "" "02939" "{PMID:Goto 2008:18776649}" "Among 23 Japanese gastric cancer patients" "" "" "Japan" "" "0" "" "" "" "" "00203205" "" "" "" "12" "" "02939" "{PMID:Goto 2008:18776649}" "Among 23 Japanese gastric cancer patients" "" "" "Japan" "" "0" "" "" "" "" "00203206" "" "" "" "1" "" "02939" "Laarabi, 2009, Revue d’Épidemiologie et de Sante Publique; doi:10.1016/j.respe.2009.02.125; http://www.em-consulte.com/showarticlefile/211658/main.pdf" "Among 250 healty Moroccans" "" "" "Morocco" "" "0" "" "" "" "" "00203207" "" "" "" "1" "" "02939" "Laarabi, 2009, Revue d’Épidemiologie et de Sante Publique; doi:10.1016/j.respe.2009.02.125; http://www.em-consulte.com/showarticlefile/211658/main.pdf" "Among 400 healty Moroccans" "" "" "Morocco" "" "0" "" "" "" "" "00203208" "" "" "" "3" "" "02939" "Laarabi, 2009, Revue d’Épidemiologie et de Sante Publique; doi:10.1016/j.respe.2009.02.125; http://www.em-consulte.com/showarticlefile/211658/main.pdf" "Among 400 healty Moroccans" "" "" "Morocco" "" "0" "" "" "" "" "00203209" "" "" "" "6" "" "02939" "{PMID:Chen 2008:18811933}" "Among 138 sporadic Chinese CRC patients; only exon 2 analyzed" "" "" "China" "" "0" "" "" "Jiangsu" "" "00203210" "" "" "" "3" "" "02939" "{PMID:Chen 2008:18811933}" "Among 343 Chinese controls; only exon 2 analyzed" "" "" "China" "" "0" "" "" "Jiangsu" "" "00203211" "" "" "" "1" "" "00640" "{PMID:Cattaneo 2008:18091433}" "first in family;no pathogenetic variants were found in APC, OGG1, MTH1, APE1, MSH2, and MSH6" "M" "" "Italy" "" "0" "" "" "" "" "00203212" "" "" "" "1" "" "00640" "{PMID:Cattaneo 2008:18091433}" "recessive inheritance (see paper)" "F" "" "Italy" "" "0" "" "" "" "" "00203213" "" "" "" "1" "" "00640" "{PMID:Cattaneo 2008:18091433}" "first in family" "M" "" "Italy" "" "0" "" "" "" "" "00203214" "" "" "" "1" "" "00640" "{PMID:Cattaneo 2008:18091433}" "first in family" "F" "" "Italy" "" "0" "" "" "" "" "00203215" "" "" "" "1" "" "00640" "{PMID:Cattaneo 2008:18091433}" "recessive inheritance (see paper)" "M" "" "Greece" "" "0" "" "" "" "" "00203216" "" "" "" "1" "" "00640" "{PMID:Cattaneo 2008:18091433}" "dominant inheritance (see paper); no pathogenetic variants were found in APC, OGG1, MTH1, APE1, MSH2, and MSH6" "M" "" "Greece" "" "0" "" "" "" "" "00203217" "" "" "" "1" "" "00640" "{PMID:Cattaneo 2008:18091433}" "first in family; no pathogenetic variants were found in APC, OGG1, MTH1, APE1, MSH2, and MSH6" "M" "" "Greece;Italy" "" "0" "" "" "" "" "00203218" "" "" "" "1" "" "01065" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "" "" "France" "" "0" "" "" "" "" "00203219" "" "" "" "1" "" "01065" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "F" "" "Congo" "" "0" "" "" "" "" "00203220" "" "" "" "1" "" "01065" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "F" "" "France" "" "0" "" "" "" "" "00203221" "" "" "" "10" "" "00640" "{PMID:Zhang 2006:16929514}" "" "" "" "China" "" "0" "" "" "Jiangsu Chinese" "16929514- cases" "00203222" "" "" "" "3" "" "00640" "{PMID:Zhang 2006:16929514}" "negative controls" "" "" "China" "" "0" "" "" "Jiangsu Chinese" "16929514 - controls" "00203223" "" "" "" "1" "" "00640" "{PMID:Lefevre 2006:17122612}" "Grandfather: CRC" "M" "" "France" "" "0" "" "" "" "17122612-1" "00203224" "" "" "" "1" "" "00640" "{PMID:Lefevre 2006:17122612}" "Polyposis in 2 brothers" "M" "" "France" "" "0" "" "" "" "17122612-12" "00203225" "" "" "" "1" "" "00640" "{PMID:Lefevre 2006:17122612}" "" "M" "" "France" "" "0" "" "" "" "17122612-14" "00203226" "" "" "" "1" "" "00640" "{PMID:Lefevre 2006:17122612}" "" "F" "" "France" "" "0" "" "" "" "17122612-15" "00203227" "" "" "" "1" "" "00640" "{PMID:Lefevre 2006:17122612}" "" "M" "" "France" "" "0" "" "" "" "17122612-26" "00203228" "" "" "" "1" "" "00640" "{PMID:Lefevre 2006:17122612}" "Polyposis in 2 brothers" "M" "" "France" "" "0" "" "" "" "17122612-31" "00203229" "" "" "" "0" "" "00640" "{PMID:Cattaneo 2008:18091433}" "" "" "" "Greece;Italy" "" "0" "" "" "" "" "00203230" "" "" "" "1" "" "00640" "{PMID:Cattaneo 2008:18091433}" "645 healty controls" "" "" "Greece;Italy" "" "0" "" "" "" "" "00203231" "" "" "" "0" "" "00640" "{PMID:Cattaneo 2008:18091433}" "645 healty controls" "" "" "Greece;Italy" "" "0" "" "" "" "" "00203232" "" "" "" "3" "" "00640" "{PMID:Cattaneo 2008:18091433}" "645 healty controls" "" "" "Greece;Italy" "" "0" "" "" "" "" "00203233" "" "" "" "1" "" "00640" "{PMID:Cattaneo 2008:18091433}" "645 healty controls" "" "" "Greece;Italy" "" "0" "" "" "" "" "00203234" "" "" "" "0" "" "00640" "{PMID:Cattaneo 2008:18091433}" "645 healty controls" "" "" "Greece;Italy" "" "0" "" "" "" "" "00203235" "" "" "" "1" "" "00640" "{PMID:Bougatef 2007:18022921}" "mutation absent in normal DNA" "M" "" "Tunisia" "" "0" "" "" "" "" "00203236" "" "" "" "1" "" "00640" "{PMID:Bougatef 2007:18022921}" "mutation absent in normal DNA" "M" "" "Tunisia" "" "0" "" "" "" "" "00203237" "" "" "" "0" "" "00640" "{PMID:Bougatef 2007:18022921}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00203238" "" "" "" "0" "" "00640" "{PMID:Bougatef 2007:18022921}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00203239" "" "" "" "1" "" "00644" "Genetique Moleculaires, CHRU, Lille, FR" "" "M" "" "France" "" "0" "" "" "" "" "00203240" "" "" "" "1" "" "00644" "Genetique Moleculaires, CHRU, Lille, FR" "" "M" "" "France" "" "0" "" "" "" "" "00203241" "" "" "" "1" "" "00644" "Genetique Moleculaires, CHRU, Lille, FR" "" "M" "" "France" "" "0" "" "" "" "" "00203242" "" "" "" "1" "" "00644" "Genetique Moleculaires, CHRU, Lille, FR" "" "M" "" "France" "" "0" "" "" "" "" "00203243" "" "" "" "1" "" "00644" "Genetique Moleculaires, CHRU, Lille, FR" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00203244" "" "" "" "1" "" "00644" "Genetique Moleculaires, CHRU, Lille, FR" "" "F" "" "Algeria" "" "0" "" "" "" "" "00203245" "" "" "" "1" "" "00644" "Genetique Moleculaires, CHRU, Lille, FR" "Patient heterozygous for a deleterious APC mutation" "M" "" "France" "" "0" "" "" "" "" "00203246" "" "" "" "1" "" "01067" "Redeker (unpublished); AMC, Amsterdam, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203247" "" "" "" "1" "" "01067" "Redeker (unpublished); AMC, Amsterdam, NL" "" "M" "" "Morocco" "" "0" "" "" "Morocco" "" "00203248" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Denmark" "" "0" "" "" "" "" "00203249" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Denmark" "" "0" "" "" "" "" "00203250" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Denmark" "" "0" "" "" "" "" "00203251" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Denmark" "" "0" "" "" "" "" "00203252" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Denmark" "" "0" "" "" "" "" "00203253" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Turkey" "" "0" "" "" "" "" "00203254" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Turkey" "" "0" "" "" "" "" "00203255" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Turkey" "" "0" "" "" "" "" "00203256" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "7 polyps, several adenomas with dysplasia" "" "" "Denmark" "" "0" "" "" "" "" "00203257" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "patient not screened for MSH6 mutations (see Niessen R et al. Hum Genet 119, 206-11, 2006). In addition the patient had c.mammae at 61y" "" "" "Denmark" "" "0" "" "" "" "" "00203258" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Denmark" "" "0" "" "" "" "" "00203259" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Denmark" "" "0" "" "" "" "" "00203260" "" "" "" "1" "" "00643" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "M" "" "Greece" "" "0" "" "" "Greek" "" "00203261" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203262" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203263" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203264" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203265" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203266" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203267" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "" "" "0" "" "" "" "" "00203268" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203269" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203270" "" "" "" "1" "" "01065" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "" "" "France" "" "0" "" "" "" "" "00203271" "" "" "" "1" "" "01067" "Redeker (unpublished); AMC, Amsterdam, NL" "" "M" "" "Iran" "" "0" "" "" "" "" "00203272" "" "" "" "6" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "6/115 polyposis and/or CRC patients heterozygous c.-127C>T; minor allele frequency 6/230" "" "" "Denmark" "" "0" "" "" "" "" "00203273" "" "" "" "13" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "13/115 polyposis and/or CRC patients heterozygous c.64G>A; minor allele frequency 15/230" "" "" "Denmark" "" "0" "" "" "" "" "00203274" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "frequency:1/230 alleles from Danish CRC/polyposis patients" "F" "" "Denmark" "" "0" "" "" "" "" "00203275" "" "" "" "4" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "4/115 polyposis and/or CRC patients heterozygous c.[1014G>C(+)1544C>T], minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230" "" "" "Denmark" "" "0" "" "" "" "" "00203276" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "1/115 polyposis and/or CRC patients homozygous c.1014G>C and heterozygous c.1544C>T, minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230" "" "" "Denmark" "" "0" "" "" "" "" "00203277" "" "" "" "5" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "5/115 polyposis and/or CRC patients homozygous for c.1014G>C; minor allele frequency: 44/230" "" "" "Denmark" "" "0" "" "" "" "" "00203278" "" "" "" "24" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "24/115 polyposis and/or CRC patients heterozygous for c.1014G>C; minor allele frequency: 44/230" "" "" "Denmark" "" "0" "" "" "" "" "00203279" "" "" "" "1" "" "00585" "Medical Genetics, UZ Gent, Gent, BE" "tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene" "M" "" "Belgium" "" "0" "" "" "" "" "00203280" "" "" "" "1" "" "00585" "Medical Genetics, UZ Gent, Gent, BE" "tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene" "F" "" "Belgium" "" "0" "" "" "" "" "00203281" "" "" "" "1" "" "00585" "Medical Genetics, UZ Gent, Gent, BE" "tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene" "M" "" "Belgium" "" "0" "" "" "" "" "00203282" "" "" "" "1" "" "00585" "Medical Genetics, UZ Gent, Gent, BE" "tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene" "M" "" "Belgium" "" "0" "" "" "" "" "00203283" "" "" "" "1" "" "00585" "Medical Genetics, UZ Gent, Gent, BE" "tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene" "M" "" "Belgium" "" "0" "" "" "" "" "00203284" "" "" "" "1" "" "00585" "Medical Genetics, UZ Gent, Gent, BE" "tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene" "M" "" "Belgium" "" "0" "" "" "" "" "00203285" "" "" "" "1" "" "01071" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "" "" "Belgium" "" "0" "" "" "" "" "00203286" "" "" "" "1" "" "01071" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "" "" "Belgium" "" "0" "" "" "" "" "00203287" "" "" "" "1" "" "01071" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "" "" "Belgium" "" "0" "" "" "" "" "00203288" "" "" "" "1" "" "00154" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "M" "" "(Sweden)" "" "0" "" "" "" "" "00203289" "" "" "" "1" "" "00154" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "F" "" "" "" "0" "" "" "" "" "00203290" "" "" "" "1" "" "00154" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "F" "" "Sweden" "" "0" "" "" "" "" "00203291" "" "" "" "1" "" "00154" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "M" "" "" "" "0" "" "" "" "" "00203292" "" "" "" "1" "" "00154" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "M" "" "" "" "0" "" "" "" "" "00203293" "" "" "" "1" "" "00154" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "F" "" "" "" "0" "" "" "" "" "00203294" "" "" "" "1" "" "00154" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" 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University Hospital Basel, Basel, CH" "" "" "" "Switzerland" "" "0" "" "" "" "" "00203360" "" "" "" "1" "" "00645" "Medical Genetics, University Hospital Basel, Basel, CH" "" "" "" "Switzerland" "" "0" "" "" "" "" "00203361" "" "" "" "1" "" "00645" "Medical Genetics, University Hospital Basel, Basel, CH" "" "" "" "Switzerland" "" "0" "" "" "" "" "00203362" "" "" "" "1" "" "00645" "Medical Genetics, University Hospital Basel, Basel, CH" "" "" "" "Switzerland" "" "0" "" "" "" "" "00203363" "" "" "" "1" "" "00645" "Medical Genetics, University Hospital Basel, Basel, CH" "" "" "" "Switzerland" "" "0" "" "" "" "" "00203372" "" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203377" "" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203379" "" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 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"" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203407" "" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009b:19527492}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203409" "" "" "" "1" "" "00640" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009b:19527492}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203410" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203411" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00203412" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "APC germline variant: c.531+3A>C, p.(spl);" "F" "" "Netherlands" "" "0" "" "" "" "" "00203413" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00203414" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203415" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203416" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203417" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203418" "" "" "" "1" "" "00640" "Clinical Genetics, LUMC, Leiden, NL" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00203419" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c312" "00203420" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c389-46" "00203421" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c450" "00203422" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c925" "00203423" "" "" "" "2" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c998-27" "00203424" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c998-9" "00203425" "" "" "" "3" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c1187-27" "00203426" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c1276" "00203427" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c1449" "00203428" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}" "allele frequency among 329 polyposis patients" "" "" "(Germany)" "" "0" "" "" "" "16557584_c42" "00203429" "" "" "" "1" "" "00100" "{PMID:Vogt 2009:19732775}" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00203430" "" "" "" "1" "" "00100" "{PMID:Vogt 2009:19732775}" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00203431" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}, {PMID:Vogt 2009:19732775}" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00203432" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}, {PMID:Vogt 2009:19732775}" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00203433" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}, {PMID:Vogt 2009:19732775}" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00203434" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}, {PMID:Vogt 2009:19732775}" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00203435" "" "" "" "1" "" "00100" "{PMID:Aretz 2006:16557584}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00203436" "" "" "" "1" "" 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Kingdom (Great Britain)" "" "0" "" "" "India" "" "00203544" "" "" "" "1" "" "02939" "Medical Genetics, SGUL, London, UK" "20 tubular adenomas; no affected family members?" "M" "" "England" "" "0" "" "" "English" "" "00203545" "" "" "" "1" "" "02939" "Medical Genetics, SGUL, London, UK" "multiple tubular adenomas and few metaplastic/serrated; half sister 2 polyps; full sister multiple colonic polyps 50y on screening" "F" "" "England" "" "0" "" "" "English" "" "00203546" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203547" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203548" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203549" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203550" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203551" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203552" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203553" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203554" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203555" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203556" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203557" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203558" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203559" "" "" "" "1" "" "01073" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "France" "" "0" "" "" "" "" "00203560" "" "" "" "1" "" "01073" "Molecular Oncology, 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patients; 0 homozygotes among 1,845 controls; population-based association study" "" "" "Scotland" "" "0" "" "" "" "15931596_patients_c1187_HOM" "00203585" "" "" "" "3" "" "02939" "{PMID:Farrington 2005:15931596}" "3 (0.1%) compound heterozygotes c.[536A>G]+[1187G>A] among 2,239 CRC patients; 0 compound heterozygotes among 1,845 controls; population-based association study" "" "" "Scotland" "" "0" "" "" "" "15931596_patients_c536_c1187" "00203586" "" "" "" "13" "" "02939" "{PMID:Farrington 2005:15931596}" "14 (0.6%) heterozygotes c.536A>G among 2,239 CRC patients; 8 (0.4%) heterozygotes among 1,845 controls; population-based association study" "" "" "Scotland" "" "0" "" "" "" "15931596_patients_c536" "00203587" "" "" "" "8" "" "02939" "{PMID:Farrington 2005:15931596}" "8 (0.4%) heterozygote c.536A>G among 1,845 controls; 14 (0.6%) heterozygotes among 2,239 CRC patients; population-based association study" "" "" "Scotland" "" "0" "" "" "" "15931596_controls_c536" "00203588" "" "" "" "30" "" "02939" "{PMID:Farrington 2005:15931596}" "31 (1.4%) heterozygote c.1187G>A among 2,239 CRC patients; 20 (1.1%) heterozygotes among 1,845 controls; population-based association study" "" "" "Scotland" "" "0" "" "" "" "15931596_patients_c1187_HET" "00203589" "" "" "" "20" "" "02939" "{PMID:Farrington 2005:15931596}" "20 (1.1%) heterozygotes c.1187G>A among 1,845 controls; 31 (1.4%) heterozygotes among 2,239 CRC patients; population-based association study" "" "" "Scotland" "" "0" "" "" "" "15931596_controls_c1187" "00203590" "" "" "" "1" "" "02939" "{PMID:Farrington 2005:15931596}" "2 patients heterozygous for c.536A>G or c.1187G>A, of whom one also heterozygous for c.1214C>T (c.1214C>T in 1 (0.04%) of 2,239 CRC patients); population based association study" "" "" "Scotland" "" "0" "" "" "" "15931596_two_patients_c536_or_c1187_and_c1214" "00203591" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c64_HOM" "00203592" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c64_HOM" "00203593" "" "" "" "35" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c64_HET" "00203594" "" "" "" "13" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c64_HET" "00203595" "" "" "" "23" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c157+30_HET" "00203596" "" "" "" "10" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c157+30_HET" "00203597" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c504+35_HOM" "00203598" "" "" "" "2" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c504+35_HOM" "00203599" "" "" "" "50" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c504+35_HET" "00203600" "" "" "" "19" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c504+35_HET" "00203601" "" "" "" "14" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c1014_HOM" "00203602" "" "" "" "7" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c1014_HOM" "00203603" "" "" "" "109" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c1014_HET" "00203604" "" "" "" "36" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c1014_HET" "00203605" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c1477-40_HOM" "00203606" "" "" "" "2" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c1477-40_HOM" "00203607" "" "" "" "43" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c1477-40_HET" "00203608" "" "" "" "16" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c1477-40_HET" "00203609" "" "" "" "9" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patients_c1544_HET" "00203610" "" "" "" "3" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_controls_c1544_HET" "00203611" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patient 562" "00203612" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patient 405" "00203613" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_control_unpublished" "00203614" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_control 400" "00203615" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_control 614" "00203616" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_patient 550" "00203617" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_c157+75" "00203618" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_c252" "00203619" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_c389-20" "00203620" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_c690+12" "00203621" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_c690+21" "00203622" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_c1187-27" "00203623" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_c1477-38" "00203624" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_c1518+27" "00203625" "" "" "" "1" "" "02939" "{PMID:Al-Tassan 2003:14579148}" "Association study between 276 lung cancer patients and 106 controls" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14579148_c1548" "00203626" "" "" "" "1" "" "02939" "{PMID:Truta 2005:15951963}" "57 unrelated adenomatous polyposis patients were evaluated." "" "" "(United States)" "" "0" "" "" "" "15951963_c1187_HOM" "00203627" "" "" "" "1" "" "02939" "{PMID:Baudhuin 2006:16292541}" "" "M" "" "(United States)" "" "0" "" "" "white" "16292541_HCC_c1187_HET" "00203628" "" "" "" "1" "" "02939" "{PMID:Baudhuin 2006:16292541}" "3/84 (3.6%) cholangiocarcinoma patients heterozygous c.1187G>A or c.536A>G; 4/308 (1.3%) controls heterozygous c.1187G>A or c.536A>G" "M" "" "(United States)" "" "0" "" "" "white" "16292541_Chol_carc_c536_HET" "00203629" "" "" "" "1" "" "02939" "{PMID:Baudhuin 2006:16292541}" "3/84 (3.6%) cholangiocarcinoma patients heterozygous c.1187G>A or c.536A>G; 4/308 (1.3%) controls heterozygous c.1187G>A or c.536A>G" "M" "" "(United States)" "" "0" "" "" "white" "16292541_Chol_carc_c1187_HET_1" "00203630" "" "" "" "1" "" "02939" "{PMID:Baudhuin 2006:16292541}" "3/84 (3.6%) cholangiocarcinoma patients heterozygous c.1187G>A or c.536A>G; 4/308 (1.3%) controls heterozygous c.1187G>A or c.536A>G" "F" "" "(United States)" "" "0" "" "" "white" "16292541_Chol_carc_c1187_HET_2" "00203631" "" "" "" "1" "" "02939" "{PMID:Fornasarig 2006:16416081}" "Twelve year clinical and endoscopical follow up; 3 ademomas tested for somatic APC MCR mutations: no somatic G>Ts; 3927-3931delAAAGA detected in one" "F" "" "Italy" "" "0" "" "" "white" "16416081_Sister" "00203632" "" "" "" "1" "" "02939" "{PMID:Fornasarig 2006:16416081}" "Twelve year clinical and endoscopical follow up" "M" "" "Italy" "" "0" "" "" "white" "16416081_Brother" "00203633" "" "" "" "1" "" "02939" "{PMID:Fornasarig 2006:16416081}" "" "M" "" "Italy" "" "0" "" "" "white" "16416081_Father" "00203634" "" "" "" "1" "" "02939" "{PMID:Fornasarig 2006:16416081}" "" "F" "" "Italy" "" "0" "" "" "white" "16416081_Mother" "00203635" "" "" "" "2" "" "02939" "{PMID:Zhang 2006:16492928}" "2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls" "F" "" "United States" "" "0" "" "" "white" "16492928_patients_c-127_HOM" "00203636" "" "" "" "98" "" "02939" "{PMID:Zhang 2006:16492928}" "98 (6.2%) heterozygotes among 1593 breast cancer patients; \'96 (7.6%) heterozygotes among 1261 controls" "F" "" "United States" "" "0" "" "" "white" "16492928_patients_c-127_HET" "00203637" "" "" "" "1" "" "02939" "{PMID:Zhang 2006:16492928}" "1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients" "F" "" "United States" "" "0" "" "" "white" "16492928_controls_c-127_HOM" "00203638" "" "" "" "96" "" "02939" "{PMID:Zhang 2006:16492928}" "96 (7.6%) heterozygotes among 1261 controls; 98 (6.2%) heterozygotes among 1593 breast cancer patients" "F" "" "United States" "" "0" "" "" "white" "16492928_controls_c-127_HET" "00203639" "" "" "" "1" "" "02939" "{PMID:Cardoso 2006:16510566}" "array CGH analysis of laser capture microdissected samples from five low-grade dysplastic areas and three apparenly normal areas" "M" "" "(Germany)" "" "0" "" "" "" "16510566_D8" "00203640" "" "" "" "1" "" "02939" "{PMID:Cardoso 2006:16510566}" "array CGH analysis of laser capture microdissected samples from two low-grade dysplastic areas and one apparenly normal area" "M" "" "(Netherlands)" "" "0" "" "" "" "16510566_RE1" "00203641" "" "" "" "1" "" "02939" "{PMID:Cardoso 2006:16510566}" "array CGH analysis of laser capture microdissected samples from two low-grade dysplastic areas and one apparenly normal area" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16510566_UK1" "00203642" "" "" "" "1" "" "02939" "{PMID:Cardoso 2006:16510566}" "array CGH analysis of laser capture microdissected samples from six low-grade dysplastic areas and one apparenly normal area" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16510566_UK2" "00203643" "" "" "" "1" "" "02939" "{PMID:Cardoso 2006:16510566}" "array CGH analysis of laser capture microdissected samples from two low-grade dysplastic areas and one apparenly normal area" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16510566_UK3" "00203644" "" "" "" "6" "" "02939" "{PMID:Moreno 2006:16609022}" "c.1187G>A heterozygous: 6/284 (2.1%) cases and 9/332 (2.7%) controls; c.536A>G detected in 0/283 cases and 0/329 controls (allele frequency below 0.15%)" "" "" "(Spain)" "" "0" "" "" "" "16609022_patients_c1187" "00203645" "" "" "" "9" "" "02939" "{PMID:Moreno 2006:16609022}" "c.1187G>A heterozygous: 6/284 (2.1%) cases and 9/332 (2.7%) controls; c.536A>G detected in 0/283 cases and 0/329 controls (allele frequency below 0.15%)" "" "" "(Spain)" "" "0" "" "" "" "16609022_controls_c1187" "00203646" "" "" "" "1" "" "02939" "{PMID:Chow 2006:16831587}" "" "F" "" "(Australia)" "" "0" "" "" "" "16831587_c536_patient_18" "00203647" "" "" "" "1" "" "02939" "{PMID:Webb 2006:16960817}" "2,561 CRC patients: 4 (0.2%) biallelic; 53 (2.1%) monoallelic; 2,695 controls: 0 biallelic; 57 (2.1%) monoallelic (c.536A>G and/or c.1187G>A); 358 cases previously reported; Fleischman et al., 2004" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "16960817_patients_c1187_HOM" "00203648" "" "" "" "3" "" "02939" "{PMID:Webb 2006:16960817}" "2,561 CRC patients: 4 (0.2%) biallelic; 53 (2.1%) monoallelic; 2,695 controls: 0 biallelic; 57 (2.1%) monoallelic (c.536A>G and/or c.1187G>A); 358 cases previously reported; Fleischman et al., 2004" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "16960817_patients_c536_c1187" "00203649" "" "" "" "38" "" "02939" "{PMID:Webb 2006:16960817}" "2,561 CRC patients: 4 (0.2%) biallelic; 53 (2.1%) monoallelic; 2,695 controls: 0 biallelic; 57 (2.1%) monoallelic (c.536A>G and/or c.1187G>A); 358 cases previously reported; Fleischman et al., 2004" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "16960817_patients_c1187_HET" "00203650" "" "" "" "15" "" "02939" "{PMID:Webb 2006:16960817}" "2,561 CRC patients: 4 (0.2%) biallelic; 53 (2.1%) monoallelic; 2,695 controls: 0 biallelic; 57 (2.1%) monoallelic (c.536A>G and/or c.1187G>A); 358 cases previously reported; Fleischman et al., 2004" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "16960817_patients_c536_HET" "00203651" "" "" "" "40" "" "02939" "{PMID:Webb 2006:16960817}" "2,561 CRC patients: 4 (0.2%) biallelic; 53 (2.1%) monoallelic; 2,695 controls: 0 biallelic; 57 (2.1%) monoallelic (c.536A>G and/or c.1187G>A); 358 cases previously reported; Fleischman et al., 2004" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "16960817_controls_c1187_HET" "00203652" "" "" "" "17" "" "02939" "{PMID:Webb 2006:16960817}" "2,561 CRC patients: 4 (0.2%) biallelic; 53 (2.1%) monoallelic; 2,695 controls: 0 biallelic; 57 (2.1%) monoallelic (c.536A>G and/or c.1187G>A); 358 cases previously reported; Fleischman et al., 2004" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "16960817_controls_c536_HET" "00203653" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "F" "" "Australia" "" "0" "" "" "" "17031395_patient_9033" "00203654" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "M" "" "Australia" "" "0" "" "" "" "17031395_patient_13714" "00203655" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "F" "" "Australia" "" "0" "" "" "" "17031395_patient_15311" "00203656" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "F" "" "Australia" "" "0" "" "" "" "17031395_patient_11408" "00203657" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "M" "" "Australia" "" "0" "" "" "" "17031395_patient_10355" "00203658" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "M" "" "Australia" "" "0" "" "" "" "17031395_patient_13122" "00203659" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "M" "" "Australia" "" "0" "" "" "" "17031395_patient_11358" "00203660" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "F" "" "Australia" "" "0" "" "" "" "17031395_patient_13911" "00203661" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "M" "" "Australia" "" "0" "" "" "" "17031395_patient_14359" "00203662" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "F" "" "Australia" "" "0" "" "" "" "17031395_patient_11913" "00203663" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "F" "" "Australia" "" "0" "" "" "" "17031395_patient_14838" "00203664" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "F" "" "Australia" "" "0" "" "" "" "17031395_patient_511" "00203665" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "F" "" "Australia" "" "0" "" "" "" "17031395_patient_11328" "00203666" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "M" "" "Australia" "" "0" "" "" "" "17031395_control_1" "00203667" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "M" "" "Australia" "" "0" "" "" "" "17031395_control_2" "00203668" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "F" "" "Australia" "" "0" "" "" "" "17031395_control_3" "00203669" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "M" "" "Australia" "" "0" "" "" "" "17031395_control_4" "00203670" "" "" "" "1" "" "02939" "{PMID:Colebatch 2006:17031395}" "872 CRC patients: 2 (0.2%) biallelic carrier; 11 (1.3%) monoallelic; 478 controls: 5 (1.0%) monoallelic" "M" "" "Australia" "" "0" "" "" "" "17031395_control_5" "00203671" "" "" "" "8" "" "02939" "{PMID:Jenkins 2005:16492921}" "kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk" "" "" "Canada" "" "0" "" "" "" "16492921_c536_HET" "00203672" "" "" "" "19" "" "02939" "{PMID:Jenkins 2005:16492921}" "kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk" "" "" "Canada" "" "0" "" "" "" "16492921_c1187_HET" "00203673" "" "" "" "2" "" "02939" "{PMID:Jenkins 2005:16492921}" "kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk" "" "" "Canada" "" "0" "" "" "" "16492921_c536_HOM" "00203674" "" "" "" "4" "" "02939" "{PMID:Jenkins 2005:16492921}" "kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk" "" "" "Canada" "" "0" "" "" "" "16492921_c1187_HOM" "00203675" "" "" "" "3" "" "02939" "{PMID:Jenkins 2005:16492921}" "kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk" "" "" "Canada" "" "0" "" "" "" "16492921_c536_c1187" "00203676" "" "" "" "1" "" "02939" "{PMID:Jenkins 2005:16492921}" "kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk" "" "" "Canada" "" "0" "" "" "" "16492921_c312_c536" "00203677" "" "" "" "1" "" "02939" "{PMID:Jenkins 2005:16492921}" "kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk" "" "" "Canada" "" "0" "" "" "" "16492921_c536_c933+3" "00203678" "" "" "" "1" "" "02939" "{PMID:Jenkins 2005:16492921}" "kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk" "" "" "Canada" "" "0" "" "" "" "16492921_c933+3_1187" "00203679" "" "" "" "55" "" "02939" "{PMID:Figueroa 2007:17203305}" "" "" "" "Spain" "" "0" "" "" "" "17203305_patients_c-127_HET" "00203680" "" "" "" "1" "" "02939" "{PMID:Figueroa 2007:17203305}" "" "" "" "Spain" "" "0" "" "" "" "17203305_patients_c-127_HOM" "00203681" "" "" "" "48" "" "02939" "{PMID:Figueroa 2007:17203305}" "" "" "" "Spain" "" "0" "" "" "" "17203305_controls_c-127_HET" "00203682" "" "" "" "1" "" "02939" "{PMID:Figueroa 2007:17203305}" "" "" "" "Spain" "" "0" "" "" "" "17203305_controls_c-127_HOM" "00203683" "" "" "" "271" "" "02939" "{PMID:Huang 2007:17220334}" "605 bladder cancer patients: 271 (44.8%) heterozygous c.1014G>C; 594 controls: 294 (42.8%) heterozygous or homozygous" "" "" "United States" "" "0" "" "" "" "17220334_patients_c1014" "00203684" "" "" "" "254" "" "02939" "{PMID:Huang 2007:17220334}" "605 bladder cancer patients: 271 (44.8%) heterozygous c.1014G>C; 594 controls: 294 (42.8%) heterozygous or homozygous" "" "" "United States" "" "0" "" "" "" "17220334_controls_c1014" "00203685" "" "" "" "1" "" "02939" "{PMID:Balaguer 2007:17368238}" "Biallelic and monoallelic pathogenic variants (among others c.536A>G and c.1187G>A) found in 8 (0.7%) and 19 (1.7%) of 1116 CRC patients, and 0 and 22 (2.3%) of 934 controls, respectively." "" "" "Spain" "" "0" "" "" "" "17368238_patients_c536" "00203686" "" "" "" "1" "" "02939" "{PMID:Balaguer 2007:17368238}" "Biallelic and monoallelic pathogenic variants (among others c.536A>G and c.1187G>A) found in 8 (0.7%) and 19 (1.7%) of 1116 CRC patients, and 0 and 22 (2.3%) of 934 controls, respectively." "" "" "Spain" "" "0" "" "" "" "17368238_controls_c536" "00203687" "" "" "" "1" "" "02939" "{PMID:Balaguer 2007:17368238}" "Biallelic and monoallelic pathogenic variants (among others c.536A>G and c.1187G>A) found in 8 (0.7%) and 19 (1.7%) of 1116 CRC patients, and 0 and 22 (2.3%) of 934 controls, respectively." "" "" "Spain" "" "0" "" "" "" "17368238_controls_c1187" "00203688" "" "" "" "0" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c1601" "00203689" "" "" "" "0" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c1601" "00203690" "" "" "" "6" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c536_HET" "00203691" "" "" "" "3" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c536_HET" "00203692" "" "" "" "9" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c1187_HET" "00203693" "" "" "" "5" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c1187_HET" "00203694" "" "" "" "2" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c1187_HOM" "00203695" "" "" "" "151" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c64_HET" "00203696" "" "" "" "8" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c64_HOM" "00203697" "" "" "" "95" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c64_HET" "00203698" "" "" "" "4" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c64_HOM" "00203699" "" "" "" "430" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c_64+3760_HET" "00203700" "" "" "" "86" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c_64+3760_HOM" "00203701" "" "" "" "273" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c_64+3760_HET" "00203702" "" "" "" "55" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c_64+3760_HOM" "00203703" "" "" "" "173" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c504+35_HET" "00203704" "" "" "" "8" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c504+35_HOM" "00203705" "" "" "" "101" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c504+35_HET" "00203706" "" "" "" "5" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c504+35_HOM" "00203707" "" "" "" "91" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c-216-2721_HET" "00203708" "" "" "" "1" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_patients_c-216-2721_HOM" "00203709" "" "" "" "62" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c-216-2721_HET" "00203710" "" "" "" "3" "" "02939" "{PMID:Schafmayer 2007:17417778}" "" "" "" "Germany" "" "0" "" "" "" "17417778_controls_c-216-2721_HOM" "00203711" "" "" "" "1" "" "02939" "{PMID:Balaguer 2007:17368238}" "Biallelic and monoallelic pathogenic variants (among others c.536A>G and c.1187G>A) found in 8 (0.7%) and 19 (1.7%) of 1116 CRC patients, and 0 and 22 (2.3%) of 934 controls, respectively." "" "" "Spain" "" "0" "" "" "" "17368238_patients_c1187" "00203712" "" "" "" "4" "" "02939" "{PMID:Wang 2005:16109524}" "4 were detected by the chip in the tissues of 10 hepato cellular carcinoma" "F" "" "(China)" "" "0" "" "" "" "16109524_c307" "00203713" "" "" "" "1" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 1 (3.4%) heterozygous c.985G>A; 30 controls: 0 detected" "" "" "Germany" "" "0" "" "" "white" "17207658_c985" "00203714" "" "" "" "4" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 4 (13.8%) heterozygous c.64G>A; 30 controls: 4 (13.3%) heterozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_patients_c64" "00203715" "" "" "" "4" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 4 (13.8%) heterozygous c.64G>A; 30 controls: 4 (13.3%) heterozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_controls_c64" "00203716" "" "" "" "7" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 7 (24.1%) heterozygous c.1014G>C; 30 controls: 6 (20.0%) heterozygous; 3 (10.0%) homozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_patients_c1014_HET" "00203717" "" "" "" "6" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 7 (24.1%) heterozygous c.1014G>C; 30 controls: 6 (20.0%) heterozygous; 3 (10.0%) homozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_controls_c1014_HET" "00203718" "" "" "" "3" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 7 (24.1%) heterozygous c.1014G>C; 30 controls: 6 (20.0%) heterozygous; 3 (10.0%) homozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_controls_c1014_HOM" "00203719" "" "" "" "1" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 1 (3.4%) heterozygous c.157+30A>G; 30 controls: 1 (3.3%) heterozygous; 1 (3.3%) homozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_patients_c157+30_HET" "00203720" "" "" "" "1" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 1 (3.4%) heterozygous c.157+30A>G; 30 controls: 1 (3.3%) heterozygous; 1 (3.3%) homozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_controls_c157+30_HET" "00203721" "" "" "" "1" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 1 (3.4%) heterozygous c.157+30A>G; 30 controls: 1 (3.3%) heterozygous; 1 (3.3%) homozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_controls_c157+30_HOM" "00203722" "" "" "" "3" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 3 (10.3%) heterozygous c.504+35G>A; 30 controls: 5 (16.7%) heterozygous; 1 (3.3%) omozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_patients_c504+35_HET" "00203723" "" "" "" "5" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 3 (10.3%) heterozygous c.504+35G>A; 30 controls: 5 (16.7%) heterozygous; 1 (3.3%) omozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_controls_c504+35_HET" "00203724" "" "" "" "1" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 3 (10.3%) heterozygous c.504+35G>A; 30 controls: 5 (16.7%) heterozygous; 1 (3.3%) omozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_controls_c504+35_HOM" "00203725" "" "" "" "3" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 3 (10.3%) heterozygous c.504+35G>A; 30 controls: 5 (16.7%) heterozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_patients_c1477-40" "00203726" "" "" "" "5" "" "02939" "{PMID:Görgens 2007:17207658}" "29 patients with head and neck squamous cell carcinomas: 3 (10.3%) heterozygous c.504+35G>A; 30 controls: 5 (16.7%) heterozygous" "" "" "Germany" "" "0" "" "" "white" "17207658_controls_c1477-40" "00203727" "" "" "" "1" "" "02939" "{PMID:De Ferro 2007:17868535}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00203728" "" "" "" "1" "" "02939" "{PMID:De Ferro 2007:17868535}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00203729" "" "" "" "1" "" "02939" "{PMID:De Ferro 2007:17868535}" "" "" "" "Portugal" "" "0" "" "" "" "" "00203730" "" "" "" "1" "" "02939" "{PMID:De Ferro 2007:17868535}" "" "" "" "Portugal" "" "0" "" "" "" "" "00203731" "" "" "" "8" "" "02939" "{PMID:Beiner 2009:18454351}" "691 breast cancer patients: 8 (1.2%) heterozygous c.1187G>A; 812 controls: 8 (1.0%) heterozygous" "F" "" "Canada" "" "0" "" "" "Fench-Canadian;Jewish;white" "" "00203732" "" "" "" "4" "" "02939" "{PMID:Beiner 2009:18454351}" "691 breast cancer patients: 4 (0.6%) heterozygous c.1187G>A; 812 controls: 5 (0.6%) heterozygous" "F" "" "Canada" "" "0" "" "" "white" "" "00203733" "" "" "" "8" "" "02939" "{PMID:Beiner 2009:18454351}" "691 breast cancer patients: 8 (1.2%) heterozygous c.1187G>A; 812 controls: 8 (1.0%) heterozygous" "F" "" "Canada" "" "0" "" "" "Fench-Canadian;Jewish;white" "" "00203734" "" "" "" "5" "" "02939" "{PMID:Beiner 2009:18454351}" "691 breast cancer patients: 4 (0.6%) heterozygous c.1187G>A; 812 controls: 5 (0.6%) heterozygous" "F" "" "Canada" "" "0" "" "" "white" "" "00203735" "" "" "" "1" "" "02939" "{PMID:Avezzù 2008:18495334}" "439 CRC patients: two (0.5%) biallelic carriers and two (0.5%) monoallelic carriers; 247 controls: one (0.4%) monoallelic carrier" "M" "" "Italy" "" "0" "" "" "" "" "00203736" "" "" "" "1" "" "02939" "{PMID:Avezzù 2008:18495334}" "439 CRC patients: two (0.5%) biallelic carriers and two (0.5%) monoallelic carriers; 247 controls: one (0.4%) monoallelic carrier" "F" "" "Italy" "" "0" "" "" "" "" "00203737" "" "" "" "1" "" "02939" "{PMID:Avezzù 2008:18495334}" "439 CRC patients: two (0.5%) biallelic carriers and two (0.5%) monoallelic carriers; 247 controls: one (0.4%) monoallelic carrier" "M" "" "Italy" "" "0" "" "" "" "" "00203738" "" "" "" "1" "" "02939" "{PMID:Avezzù 2008:18495334}" "439 CRC patients: two (0.5%) biallelic carriers and two (0.5%) monoallelic carriers; 247 controls: one (0.4%) monoallelic carrier" "M" "" "Italy" "" "0" "" "" "" "" "00203739" "" "" "" "1" "" "02939" "{PMID:Avezzù 2008:18495334}" "439 CRC patients: two (0.5%) biallelic carriers and two (0.5%) monoallelic carriers; 247 controls: one (0.4%) monoallelic carrier" "F" "" "Italy" "" "0" "" "" "" "" "00203740" "" "" "" "1" "" "02939" "{PMID:Grünhage 2008:18503156}" "93 familial CRC patients: 2 (2.2%) biallelic and 4 (4.4%) monoallelic carriers; 93 sporadic CRC patients: 2 (2.2%) monoallelic carriers; 93 \'hyper normal\"controls: 1 (1.1%) monoallelic" "" "" "Germany" "" "0" "" "" "" "" "00203741" "" "" "" "3" "" "02939" "{PMID:Grünhage 2008:18503156}" "93 familial CRC patients: 2 (2.2%) biallelic and 4 (4.4%) monoallelic carriers; 93 sporadic CRC patients: 2 (2.2%) monoallelic carriers; 93 \'hyper normal\"controls: 1 (1.1%) monoallelic" "" "" "Germany" "" "0" "" "" "" "" "00203742" "" "" "" "1" "" "02939" "{PMID:Grünhage 2008:18503156}" "93 familial CRC patients: 2 (2.2%) biallelic and 4 (4.4%) monoallelic carriers; 93 sporadic CRC patients: 2 (2.2%) monoallelic carriers; 93 \'hyper normal\"controls: 1 (1.1%) monoallelic" "" "" "Germany" "" "0" "" "" "" "" "00203743" "" "" "" "1" "" "02939" "{PMID:Grünhage 2008:18503156}" "93 familial CRC patients: 2 (2.2%) biallelic and 4 (4.4%) monoallelic carriers; 93 sporadic CRC patients: 2 (2.2%) monoallelic carriers; 93 \'hyper normal\"controls: 1 (1.1%) monoallelic" "" "" "Germany" "" "0" "" "" "" "" "00203744" "" "" "" "2" "" "02939" "{PMID:Grünhage 2008:18503156}" "93 familial CRC patients: 2 (2.2%) biallelic and 4 (4.4%) monoallelic carriers; 93 sporadic CRC patients: 2 (2.2%) monoallelic carriers; 93 \'hyper normal\"controls: 1 (1.1%) monoallelic" "" "" "Germany" "" "0" "" "" "" "" "00203745" "" "" "" "1" "" "02939" "{PMID:Grünhage 2008:18503156}" "93 familial CRC patients: 2 (2.2%) biallelic and 4 (4.4%) monoallelic carriers; 93 sporadic CRC patients: 2 (2.2%) monoallelic carriers; 93 \'hyper normal\"controls: 1 (1.1%) monoallelic" "" "" "Germany" "" "0" "" "" "" "" "00203746" "" "" "" "1" "" "02939" "{PMID:Giráldez 2009:19685280}" "3/26 (11.5%) CRC patients with monoallelic pathogenic MUTYH variant + MSH6 variant; No MSH6 variants in 50 CRC patients without MUTYH variant and 21 healthy monoallelic MUTYH variant carriers" "M" "" "Spain" "" "0" "" "" "" "" "00203747" "" "" "" "1" "" "02939" "{PMID:Giráldez 2009:19685280}" "3/26 (11.5%) CRC patients with monoallelic pathogenic MUTYH variant + MSH6 variant; No MSH6 variants in 50 CRC patients without MUTYH variant and 21 healthy monoallelic MUTYH variant carriers" "F" "" "Spain" "" "0" "" "" "" "" "00203748" "" "" "" "1" "" "02939" "{PMID:Giráldez 2009:19685280}" "3/26 (11.5%) CRC patients with monoallelic pathogenic MUTYH variant + MSH6 variant; No MSH6 variants in 50 CRC patients without MUTYH variant and 21 healthy monoallelic MUTYH variant carriers" "F" "" "Spain" "" "0" "" "" "" "" "00203749" "" "" "" "1" "" "02939" "{PMID:Niessen 2006:16408224}" "40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%)," "" "" "Netherlands" "" "0" "" "" "" "16408224_1" "00203750" "" "" "" "1" "" "02939" "{PMID:Niessen 2006:16408224}" "40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%)," "" "" "Netherlands" "" "0" "" "" "" "16408224_2" "00203751" "" "" "" "1" "" "02939" "{PMID:Niessen 2006:16408224}" "40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%)," "" "" "Netherlands" "" "0" "" "" "" "16408224_3" "00203752" "" "" "" "1" "" "02939" "{PMID:Niessen 2006:16408224}" "40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%)," "" "" "Netherlands" "" "0" "" "" "" "16408224_5" "00203753" "" "" "" "1" "" "02939" "{PMID:Niessen 2006:16408224}" "40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%)," "" "" "Netherlands" "" "0" "" "" "" "16408224_6" "00203754" "" "" "" "1" "" "02939" "{PMID:Steinke 2008:18301448}" "64 carriers of an MSH6 germline mutation: two monoallelic MUTYH mutations (3.1%)" "F" "" "Netherlands" "" "0" "" "" "" "" "00203755" "" "" "" "1" "" "02939" "{PMID:Steinke 2008:18301448}" "64 carriers of an MSH6 germline mutation: two monoallelic MUTYH mutations (3.1%)" "F" "" "Netherlands" "" "0" "" "" "" "" "00203756" "" "" "" "1" "" "02939" "{PMID:Ashton 2005:20223032}" "442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A" "F" "" "Australia" "" "0" "" "" "" "" "00203757" "" "" "" "1" "" "02939" "{PMID:Ashton 2005:20223032}" "442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A" "F" "" "Australia" "" "0" "" "" "" "" "00203758" "" "" "" "1" "" "02939" "{PMID:Ashton 2005:20223032}" "442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A" "M" "" "Australia" "" "0" "" "" "" "" "00203759" "" "" "" "1" "" "02939" "{PMID:Ashton 2005:20223032}" "442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A" "M" "" "Australia" "" "0" "" "" "" "" "00203760" "" "" "" "1" "" "02939" "{PMID:Ashton 2005:20223032}" "442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A" "M" "" "Australia" "" "0" "" "" "" "" "00203761" "" "" "" "1" "" "02939" "{PMID:Ashton 2005:20223032}" "442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A" "F" "" "Australia" "" "0" "" "" "" "" "00203762" "" "" "" "1" "" "02939" "{PMID:Ashton 2005:20223032}" "442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A" "F" "" "Australia" "" "0" "" "" "" "" "00203763" "" "" "" "4" "" "02939" "{PMID:Ashton 2005:20223032}" "442 HNPCC patients with (209) or without (233) MMR mutation: 2/209 (1.0%), 5/233 (2.1%) and 7/442 (1.6%) monoallelic carrier c.536A>G or c.1187G>A; 296 controls: 4 (1.35%) monoallelic carrier c.1187G>A" "" "" "Australia" "" "0" "" "" "" "" "00203764" "" "" "" "1" "" "01071" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "F" "" "Belgium" "" "0" "" "" "" "" "00203765" "" "" "" "1" "" "01071" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "F" "" "Belgium" "" "0" "" "" "" "" "00203766" "" "" "" "1" "" "01066" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "the father of the patient had colon cancer too" "M" "" "Denmark" "" "0" "" "" "" "" "00203767" "" "" "" "1" "" "00642" "" "<50 polyps and high-grade rectum carcinome" "" "" "Germany" "" "0" "" "" "" "" "00203768" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "patient was diagnosed with colon carcinoma at age 36, mother and aunt had adenomas removed, another aunt and uncle were diagnosed colon carcinoma at age 45" "" "" "(Germany)" "" "0" "" "" "" "" "00203769" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "no known clinic, predictive" "" "" "(Germany)" "" "0" "" "" "" "" "00203770" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "genetic carrier" "" "" "(Germany)" "" "0" "" "" "" "" "00203771" "" "" "" "1" "" "00642" "MGZ, Munchen, Germany" "genetic carrier" "" "" "(Germany)" "" "0" "" "" "" "" "00203772" "" "" "" "1" "" "00642" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00203773" "" "" "" "1" "" "00642" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00203774" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "M" "" "Sweden" "" "0" "" "" "" "PMID16616356_1" "00203775" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "F" "" "Sweden" "" "0" "" "" "" "PMID16616356_2" "00203776" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "M" "" "Sweden" "" "0" "" "" "" "PMID16616356_3" "00203777" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "F" "" "Sweden" "" "0" "" "" "" "PMID16616356_4" "00203778" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "F" "" "Sweden" "" "0" "" "" "" "PMID16616356_5" "00203779" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "M" "" "Sweden" "" "0" "" "" "" "PMID16616356_8" "00203780" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "F" "" "Sweden" "" "0" "" "" "" "PMID16616356_9" "00203781" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "F" "" "Sweden" "" "0" "" "" "" "PMID16616356_10" "00203782" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "F" "" "Sweden" "" "0" "" "" "" "PMID16616356_11" "00203783" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "F" "" "Sweden" "" "0" "" "" "" "PMID16616356_12" "00203784" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "F" "" "Sweden" "" "0" "" "" "" "PMID16616356_13" "00203785" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "F" "" "Sweden" "" "0" "" "" "" "PMID16616356_14" "00203786" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "among 15 tested APC-mutation-negative polyposis patients" "M" "" "Sweden" "" "0" "" "" "" "PMID16616356_15" "00203787" "" "" "" "0" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "variant NOT detected in 96 controls" "" "" "Sweden" "" "0" "" "" "" "PMID16616356_566_controls" "00203788" "" "" "" "0" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "variant NOT detected in 96 controls" "" "" "Sweden" "" "0" "" "" "" "PMID16616356_1214_controls" "00203789" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "" "" "" "Sweden" "" "0" "" "" "" "PMID16616356_1187_controls" "00203790" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "" "" "" "Sweden" "" "0" "" "" "" "PMID16616356_1276_controls" "00203791" "" "" "" "1" "" "02939" "{PMID:Kanter-Smoler 2006:16616356}" "" "" "" "Sweden" "" "0" "" "" "" "PMID16616356_1187_27_controls" "00203792" "" "" "" "1" "" "01076" "{PMID:Sun C ,2009:19932167}" "a cross-sectional study" "" "" "China" "" "0" "" "" "" "" "00203793" "" "" "" "1" "" "01082" "{PMID:Torrezan 2011:21962078}" "" "F" "" "Brazil" "" "0" "" "" "white" "" "00203794" "" "" "" "1" "" "01086" "Institute of Human Genetics, Bonn, Germany" "" "F" "" "Germany" "" "0" "" "" "" "" "00203795" "" "" "" "1" "" "01086" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00203796" "" "" "" "1" "" "01082" "" "" "F" "" "Brazil" "" "0" "" "" "white" "" "00203797" "" "" "" "1" "" "01082" "" "" "F" "" "Brazil" "" "0" "" "" "" "" "00203798" "" "" "" "1" "" "01082" "" "" "F" "" "Brazil" "" "0" "" "" "" "" "00203799" "" "" "" "1" "" "01082" "" "" "M" "" "Brazil" "" "0" "" "" "white" "" "00203800" "" "" "" "1" "" "01082" "" "" "M" "" "Brazil" "" "0" "" "" "white" "" "00203801" "" "" "" "1" "" "01088" "{PMID:Rouleau ,2011:21815886}" "" "M" "" "France" "" "0" "" "" "" "" "00203802" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203803" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203804" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203805" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00203806" "" "" "" "1" "" "01091" "{PMID:Plotz 2012:22473953}" "" "F" "" "Germany" "" "0" "" "" "German" "" "00203807" "" "" "" "1" "" "01091" "{PMID:Plotz 2012:22473953}" "" "M" "" "Germany" "" "0" "" "" "" "" "00203808" "" "" "" "1" "" "01091" "{PMID:Plotz 2012:22473953}" "" "F" "" "Germany" "" "0" "" "" "" "" "00203809" "" "" "" "1" "" "00640" "{PMID:Laarabi 2010:20939750}" "1 heterozygote in 400 persons tested, general Moroccan population" "" "" "Morocco" "" "0" "" "" "" "" "00203810" "" "" "" "1" "" "00640" "{PMID:Laarabi 2010:20939750}" "3 heterozygote in 400 persons, general Moroccan population" "" "" "Morocco" "" "0" "" "" "" "" "00203811" "" "" "" "1" "" "00640" "{PMID:Laarabi 2010:20939750}" "1 heterozygote in 250 persons, general Moroccan population" "" "" "Morocco" "" "0" "" "" "" "" "00203812" "" "" "" "1" "" "00640" "{PMID:Garre 2011:21355073}" "1 heterozygous index patient in 42 Spanish MSS-HNPCC families" "" "" "Spain" "" "0" "" "" "" "" "00203813" "" "" "" "1" "" "00640" "{PMID:Garre 2011:21355073}" "cases MSS-HNPCC like indexes vs controls" "" "" "Spain" "" "0" "" "" "" "" "00203814" "" "" "" "1" "" "00640" "{PMID:Garre 2011:21355073}" "cases MSS-HNPCC like indexes vs controls" "" "" "Spain" "" "0" "" "" "" "" "00203815" "" "" "" "1" "" "01091" "{PMID:Plotz 2012:22473953}" "Control individual, age 34" "F" "" "Germany" "" "0" "" "" "German" "" "00203816" "" "" "" "1" "" "00640" "Spier and Aretz (unpublished)" "" "F" "" "Bulgaria" "" "0" "" "" "" "" "00203817" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "" "" "0" "" "" "" "" "00203818" "" "" "" "1" "" "00579" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "" "" "0" "" "" "" "" "00203824" "" "" "" "1" "" "00727" "" "" "" "" "" "" "0" "" "" "" "" "00203825" "" "" "" "1" "" "02886" "" "" "M" "" "Germany" "" "0" "" "" "German" "" "00203826" "" "" "" "1" "" "00643" "Greece: Athens" "Dis Colon Rectum. 2010 Aug;53(8):1197-201. doi: 10.1007/DCR.0b013e3181dcf0c1." "F" "" "Greece" "" "0" "" "" "" "" "00203827" "" "" "" "1" "" "01131" "" "multiple tubular adenomas" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00203828" "" "" "" "1" "" "00642" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00203829" "" "" "" "1" "" "01087" "" "" "" "" "Spain" "" "0" "" "" "" "" "00203832" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00203833" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00203834" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00203855" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00203960" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204026" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204027" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204028" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204029" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204030" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204031" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "M" "" "France" "" "0" "" "" "" "" "00204032" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204033" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204034" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204035" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204036" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204037" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204038" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204039" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "M" "" "France" "" "0" "" "" "" "" "00204040" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204041" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "M" "" "France" "" "0" "" "" "" "" "00204042" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204043" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "F" "" "France" "" "0" "" "" "" "" "00204044" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204045" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204046" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "15516-002" "00204047" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204048" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204049" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204050" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204051" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204052" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204053" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204054" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204055" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204056" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204057" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204058" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204059" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204060" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204061" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204062" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204063" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204064" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204065" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204066" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204067" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204068" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204069" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204070" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00204071" "" "" "" "1" "" "02940" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "France" "" "0" "" "" "" "" "00207946" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00207947" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00245898" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246629" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246630" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246632" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00246633" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246634" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246635" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246636" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246637" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00246638" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246639" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246640" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246641" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246642" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246643" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246644" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00246645" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246646" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246647" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246648" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00246649" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246650" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246651" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246652" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00246653" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246654" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00246655" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248408" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248409" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248410" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248411" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248412" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248413" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00248414" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248415" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248416" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248417" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00248418" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248419" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248420" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00248421" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00248431" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00262112" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263132" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263133" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263134" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263135" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263136" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00263137" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00263138" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263139" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263140" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263141" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00263142" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263143" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263895" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263899" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00264040" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00264043" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00264107" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00264109" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00265411" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00265421" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00266175" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00266395" "" "" "" "1" "" "03452" "" "" "" "" "Argentina" "" "0" "" "" "" "contributed by Dept. of Dr Vaccaro" "00266396" "" "" "" "1" "" "03452" "" "" "" "" "Argentina" "" "0" "" "" "" "contributed by Dept. of Dr Vaccaro" "00266399" "" "" "" "1" "" "03452" "" "" "" "" "Argentina" "" "0" "" "" "" "contributed by Dept. of Dr Vaccaro" "00266401" "" "" "" "1" "" "03452" "" "" "" "" "Argentina" "" "0" "" "" "" "contributed by Dept. of Dr Vaccaro" "00266403" "" "" "" "1" "" "03452" "" "" "" "" "Argentina" "" "0" "" "" "" "contributed by Dept. of Dr Vaccaro" "00266407" "" "" "" "1" "" "03452" "" "" "" "" "Argentina" "" "0" "" "" "" "contributed by Dept. of Dr Vaccaro" "00266475" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Spain" "" "00266481" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266485" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Italy" "" "00269119" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00289855" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289856" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289857" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289858" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289859" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289860" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289861" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289862" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" 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degree relative" "" "" "France" "" "0" "" "" "" "K78" "00316177" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and 1st degree relative (BO)" "" "" "France" "" "0" "" "" "" "K80" "00335113" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "3885" "00336187" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00336188" "" "" "" "2" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00336189" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00336243" "" "" "" "1" "" "04020" "{PMID:Dorling 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"00357426" "00000" "00357427" "00000" "00357428" "00000" "00357429" "00000" "00363779" "04267" "00363780" "04267" "00363781" "04267" "00363782" "04267" "00376152" "00681" "00376155" "00681" "00406898" "05489" "00406899" "05489" "00406972" "05489" "00406973" "05489" "00410595" "00198" "00415740" "05489" "00415742" "05489" "00430273" "04296" "00430355" "04296" "00430359" "04296" "00430363" "04296" "00432989" "04296" "00432993" "04296" "00432999" "04296" "00433001" "04296" "00443710" "05489" "00443711" "05489" "00443712" "05489" "00443713" "05489" "00445001" "00296" "00457356" "04296" "00457357" "04296" "00457363" "04296" "00457378" "04296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00296, 00312, 00314, 00315, 00318, 00334, 00335, 00423, 00681, 00683, 00882, 01317, 01524, 01544, 03381, 04267, 04280, 04296, 05093, 05154, 05342, 05487, 05488, 05489, 05490, 05497, 05862 ## Count = 1574 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000001877" "00198" "00003026" "00130" "Familial, autosomal recessive" "" "CRC39" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035258" "04296" "00047863" "00006" "Unknown" "" "colon adenomas x5 48y (All MSI stable. Retained MSH6 expression)" "" "" "" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000084394" "00335" "00106589" "02029" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106013" "00312" "00133260" "02282" "Familial" "38y" "Adenomatous colonic polyposis (HP:0005227)\r\nAdenocarcinoma of the large intestine (HP:0040275)" "" "" "" "" "" "" "" "" "" "" "" "neoplasm" "" "colorectal symptoms" "" "0000106014" "00312" "00133261" "02282" "Unknown" "39y" "Adenomatous colonic polyposis (HP:0005227)\r\nAdenocarcinoma of the large intestine (HP:0040275)" "" "" "" "" "" "" "" "" "" "" "" "neoplasm" "" "colorectal symptoms" "" "0000106015" "00312" "00133262" "02282" "Unknown" "83y" "Adenomatous colonic polyposis (HP:0005227); adenocarcinoma of the large intestine (HP:0040275), 6 tumors" "47y" "" "Adenocarcinoma of the large intestine (HP:0040275)" "" "" "" "" "" "" "" "" "neoplasm" "" "colorectal symptoms" "" "0000149184" "00091" "00200928" "00770" "Unknown" "" "adenocarcinoma transverse colon age 64 with additional TV adenomas" "64y" "" "" "MSH6-" "MSI-H" "" "" "" "" "" "" "" "" "" "" "0000149185" "00091" "00200928" "00770" "Unknown" "" "moderately differentiated adenocarcinoma of splenic flexure" "70y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149186" "03381" "00200928" "00770" "Unknown" "" "adenocarcinoma of the stomach" "73y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149423" "05487" "00201843" "00770" "Unknown" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149492" "05489" "00202345" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149493" "05489" "00202346" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149494" "00198" "00202347" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149495" "05489" "00202348" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149496" "00198" "00202349" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149497" "05489" "00202350" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149498" "05489" "00202351" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149499" "05489" "00202352" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149500" "05489" "00202353" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149501" "00198" "00202354" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149502" "05489" "00202355" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149503" "00198" "00202356" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149504" "05489" "00202357" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149505" "00198" "00202358" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149506" "05489" "00202359" "02939" "Unknown" "" "(FAP);(HNPCC)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149507" "05489" "00202360" "02939" "Unknown" "" "(FAP);(HNPCC)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149508" "05489" "00202361" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149509" "05489" "00202362" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149510" "05489" "00202363" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149511" "05489" "00202364" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149512" "05489" "00202365" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149513" "05489" "00202366" "02939" "Unknown" "" "(FAP);(HNPCC)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149514" "05489" "00202367" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149515" "05489" "00202368" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149516" "05489" "00202369" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149517" "05489" "00202370" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149518" "05489" "00202371" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149519" "05489" "00202372" "02939" "Unknown" "" "HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149520" "05489" "00202373" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149521" "05489" "00202374" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149522" "05489" "00202375" "02939" "Unknown" "" "(FAP);(HNPCC)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149523" "05489" "00202376" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149524" "00091" "00202377" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149525" "00198" "00202378" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149526" "00091" "00202379" "02939" "Unknown" "" "CRC or control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149527" "00091" "00202380" "02939" "Unknown" "" "CRC or control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149528" "00091" "00202381" "02939" "Unknown" "" "CRC or control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149529" "00091" "00202382" "02939" "Unknown" "" "No polyps; 66y-CRC; no polyps" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149530" "00091" "00202383" "02939" "Unknown" "" "No polyps; 58y-CRC; no polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149531" "00198" "00202384" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149532" "00091" "00202385" "02939" "Unknown" "" "Four tubular adenomas; 66y-CRC; 4 polyps" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149533" "00091" "00202386" "02939" "Unknown" "" "No polyps; 65y-CRC; no polyps" "" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149534" "00091" "00202387" "02939" "Unknown" "" "Six tubular adenomas; 35y-CRC; 6 polyps" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149535" "00091" "00202388" "02939" "Unknown" "" "Carpeted with adenomas; 45y-CRC; Carpeted polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149536" "00091" "00202389" "02939" "Unknown" "" "Polyposis coli; 41y-CRC; Polyposis" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149537" "05489" "00202390" "02939" "Unknown" "" "FAP;CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149538" "05489" "00202391" "02939" "Unknown" "" "FAP;CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149539" "05489" "00202392" "02939" "Unknown" "" "FAP;CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149540" "05489" "00202393" "02939" "Unknown" "" "FAP;CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149541" "05489" "00202394" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149542" "05489" "00202395" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149543" "05489" "00202396" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149544" "05489" "00202397" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149545" "05489" "00202398" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149546" "05489" "00202399" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149547" "05489" "00202400" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149548" "05489" "00202401" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149549" "05489" "00202402" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149550" "05489" "00202403" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149551" "05489" "00202404" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149552" "05489" "00202405" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149553" "05489" "00202406" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149554" "05489" "00202407" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149555" "00091" "00202408" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149556" "05489" "00202409" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149557" "00091" "00202410" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149558" "00091" "00202411" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149559" "05489" "00202412" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149560" "05489" "00202413" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149561" "05489" "00202414" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149562" "05489" "00202415" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149563" "05489" "00202416" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149564" "05489" "00202417" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149565" "05489" "00202418" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149566" "05489" "00202419" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149567" "05489" "00202420" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149568" "05489" "00202421" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149569" "00198" "00202422" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149570" "00198" "00202423" "02939" "Unknown" "" "3-100 polpys" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149571" "00198" "00202424" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149572" "00198" "00202425" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149573" "00198" "00202426" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149574" "05489" "00202427" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149575" "00198" "00202428" "02939" "Unknown" "" "3-100 polpys" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149576" "05489" "00202429" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149577" "00198" "00202430" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149578" "00198" "00202431" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149579" "00198" "00202432" "02939" "Unknown" "" "3-100 polpys" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149580" "00198" "00202433" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149581" "00198" "00202434" "02939" "Unknown" "" "3-100 polpys" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149582" "00198" "00202435" "02939" "Unknown" "" "3-100 polpys" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149583" "00091" "00202436" "00645" "Unknown" "" "Small intestinal polyps, stomach and duodenal polyps, adenocarcinoma; CRC Rectal; colorectal phenotype attennuated; <100 polyps" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149584" "00198" "00202437" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149585" "00198" "00202438" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149586" "00198" "00202439" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149587" "05489" "00202440" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149588" "00198" "00202441" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149589" "05489" "00202442" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149590" "00198" "00202443" "02939" "Unknown" "" "3-100 polpys" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149591" "05489" "00202444" "02939" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149592" "00198" "00202445" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149593" "00198" "00202446" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149594" "00198" "00202447" "02939" "Unknown" "" "3-100 polpys" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149595" "00198" "00202448" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149596" "00198" "00202449" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149597" "00198" "00202450" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149598" "00198" "00202451" "02939" "Unknown" "" "adenoma; No extracolonic features reported; no family history reported; no CRC; 100-1000 polyps" "" "70y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149599" "00198" "00202452" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149600" "05489" "00202453" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149601" "05489" "00202454" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149602" "05489" "00202455" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149603" "05489" "00202456" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149604" "05489" "00202457" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149605" "05489" "00202458" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149606" "05489" "00202459" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149607" "05489" "00202460" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149608" "05489" "00202461" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149609" "05489" "00202462" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149610" "05489" "00202463" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149611" "01524" "00202464" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149612" "01524" "00202465" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149613" "01524" "00202466" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149614" "01524" "00202467" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149615" "01524" "00202468" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149616" "01524" "00202469" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149617" "05489" "00202470" "02939" "Unknown" "" "(FAP);(AFAP)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149618" "05489" "00202471" "02939" "Unknown" "" "(FAP);(AFAP)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149619" "05489" "00202472" "02939" "Unknown" "" "(FAP);(AFAP)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149620" "05489" "00202473" "02939" "Unknown" "" "FAP;HNPCC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149621" "05489" "00202474" "02939" "Unknown" "" "(FAP);(AFAP)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149622" "05489" "00202475" "02939" "Unknown" "" "(FAP);(AFAP)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149623" "05489" "00202476" "02939" "Unknown" "" "(FAP);(AFAP)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149624" "05489" "00202477" "02939" "Unknown" "" "AFAP;cancer, cervix" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149625" "00091" "00202478" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149626" "00198" "00202479" "02939" "Unknown" "" "mulitple polyps; adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149627" "00198" "00202480" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149628" "00091" "00202481" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149629" "00198" "00202482" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149630" "05489" "00202483" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149631" "00198" "00202484" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149632" "00091" "00202485" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149633" "05489" "00202486" "02939" "Unknown" "" "AFAP; mulitple polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149634" "05489" "00202487" "02939" "Unknown" "" "AFAP; mulitple polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149635" "00091" "00202488" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149636" "00198" "00202489" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149637" "05489" "00202490" "02939" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149638" "00198" "00202491" "00640" "Unknown" "" "adenoma; 70 adenomas 55y;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149639" "00091" "00202492" "00640" "Unknown" "" "CRC stage B2; Age CRC 65; family history Sporadic; 2 duodenal adenomas, Duodenal cancer, No gastric polyps; EGD 65y; 65y-coecum; diagnosis: colorectal symptoms; 10-100 polyps" "" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149640" "00198" "00202493" "00640" "Unknown" "" "bladder carcinoma (60), other benign tumors (62), benign skin tumor; family history AR; no EGD; no CRC; diagnosis: colorectal symptoms; mulitple polyps" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149641" "05489" "00202494" "00640" "Unknown" "" "Multiple polyps; CRC 2 coecum, 2 ascending colonileum; stage 1 D and 4; Age CRC 41, 41, 41, 41, 41 died of CRC (44); family history Sporadic;; no EGD; 41y-CRC; diagnosis: colorectal symptoms; mulitple polyps" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149642" "00091" "00202495" "00640" "Unknown" "" "CRC stage A or B; carcinoid; MSS; family history AR; Breast cancer; no EGD; 54/57/77/77y-CRC rectum , ascending, ileum, left; diagnosis: colorectal symptoms; 10-100 polyps" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149643" "05489" "00202496" "00640" "Unknown" "" "CRC stage B2; family history AD; esophagic cancer (59); No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 59y; 49y-CRC sigmoid; diagnosis: colorectal symptoms; polyposis" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149644" "05489" "00202497" "00640" "Unknown" "" "CRC stage D; MSS;family history AR; parents consanguineous; basalioma (41); died of CRC (49); no EGD; 45y-ascending; diagnosis: colorectal symptoms; polyposis" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149645" "00198" "00202498" "00640" "Unknown" "" "polyps; family history AR; Breast cancer age 49, both sides (T1N0M0); No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 55y; no CRC; diagnosis: colorectal symptoms; 10-100 polyps" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149646" "05489" "00202499" "00640" "Unknown" "" "CRC stage B2 MSS; family history AD; no EGD; 59y-hepatic flexure; diagnosis: colorectal symptoms; >20 polyps" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149647" "00091" "00202500" "00640" "Unknown" "" "CRC coecum; stage Tis; MSS; family history AD; No duodenal polyps, No duodenal cancer, fundic gland polyps; EGD 65y; 58y-coecum; diagnosis: colorectal symptoms; 30 polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149648" "05489" "00202501" "00640" "Unknown" "" "CRC colon stage B1, B2; benign endometrial tumor (57); family history Sporadic;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 53y; 43/46y-coecum and transverse; diagnosis: colorectal symptoms; 10-50 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149649" "00198" "00202502" "00640" "Unknown" "" ">50 polyps; CRC none; stage; MSS; family history AR;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 52y; No CRC; diagnosis: colorectal symptoms; 50 polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149650" "05489" "00202503" "00640" "Unknown" "" "CRC coecumstage D;MSS; died CRC45; family history AD; no EGD; 45y-coecum; diagnosis: colorectal symptoms; 35 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149651" "05489" "00202504" "00640" "Unknown" "" "CRC stageC2; family history AD;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 67y; 67y-ascending; diagnosis: colorectal symptoms; >100 polyps" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149652" "05489" "00202505" "00640" "Unknown" "" "CRC a stage, B; family history Sporadic;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 63y; 46y-ascending; diagnosis: colorectal symptoms; 50-100 polyps" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149653" "00198" "00202506" "00640" "Unknown" "" "polyps; family history Sporadic;; no EGD; no CRC; diagnosis: colorectal symptoms; 12 polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149654" "00198" "00202507" "00640" "Unknown" "" "polyps; family history AR; No duodenal polyps, No duodenal cancer, 1 fundic gland polyps; EGD 59y; no CRC; diagnosis: colorectal symptoms; 10-100 polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149655" "00198" "00202508" "00640" "Unknown" "" "polyps; family history Sporadic; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 37y; no CRC; diagnosis: colorectal symptoms; 10-100 polyps" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149656" "00198" "00202509" "00640" "Unknown" "" "polyps; family history AD; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 61y; no CRC; diagnosis: colorectal symptoms; polyposis" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149657" "05487" "00202510" "00640" "Unknown" "" "CRC; stage A; MSS; family history AD; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 28y; 21y-CRC rectum; diagnosis: colorectal symptoms; 36 polyps" "" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149658" "05489" "00202511" "00640" "Unknown" "" "CRC sigmoid; stage B2; MSS family history AD; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 52y; 44y-CRC Sigmoid; diagnosis: colorectal symptoms; 50-100 polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149659" "00198" "00202512" "00640" "Unknown" "" "polyps; family history AR; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 47y; no CRC; diagnosis: colorectal symptoms; 50-100 polyps" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149660" "00091" "00202513" "00640" "Unknown" "" "family history AD; duodenal polyps, No duodenal cancer, No gastric polyps; EGD 57y; 48y-coecum; diagnosis: colorectal symptoms; 100-1000 polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149661" "00091" "00202514" "00640" "Unknown" "" "CRC stage D MSS; family history Sporadic; Basal cell carcinoma skin (nose);; no EGD; 46y-hepatic flexure; diagnosis: colorectal symptoms; >25 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149662" "05489" "00202515" "00640" "Unknown" "" "CRC stage A or B; family history Sporadic;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 61y; 42y-descending; diagnosis: colorectal symptoms; 10-50 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149663" "00198" "00202516" "00640" "Unknown" "" "polyps; family history Sporadic; died of disease other than cancer (42); no EGD; no CRC; diagnosis: colorectal symptoms; >15 polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149664" "05489" "00202517" "00640" "Unknown" "" "CRC stage A;family history Sporadic; died of CRC (62); no EGD; 59y-ascending colon/coecum; diagnosis: colorectal symptoms; polyposis" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149665" "00198" "00202518" "00640" "Unknown" "" "polyps; family history AD;; No duodenal cancer, No gastric polyps; EGD 60y; no CRC; diagnosis: colorectal symptoms; polyposis" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149666" "00091" "00202519" "00640" "Unknown" "" "Breast cancer age 55 (ductal carcinoma in situ with a micro-invasive component); died of CRC (58); no EGD; 58y-CRC rectum; diagnosis: colorectal symptoms; polyposis" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149667" "05489" "00202520" "00640" "Unknown" "" "family history AR; no EGD; 37/37y-coecum and ascending; diagnosis: colorectal symptoms; 100-1000 polyps" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149668" "05487" "00202521" "00640" "Unknown" "" "CRC rectum stage B; family history AD;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 58y; 42y-CRC rectum; diagnosis: colorectal symptoms; polyposis" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149669" "05489" "00202522" "00640" "Unknown" "" "CRC stage D; family history AD; died of CRC (41); no EGD; 40y-coecum; diagnosis: colorectal symptoms; 50-100 polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149670" "05487" "00202523" "00640" "Unknown" "" "rectumca stage B; MSS; family history AD, parents consanguineous; Cervix ca. age 27, Breast cancer (T1N0M0) age 49;; 42y-CRC rectum; diagnosis: colorectal symptoms; 10-50 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149671" "00198" "00202524" "00640" "Unknown" "" "polyps; family history Sporadic; no EGD; no CRC; diagnosis: colorectal symptoms; 110-120 polyps" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149672" "05489" "00202525" "00640" "Unknown" "" "family history Sporadic; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 42y; 39y-coecum; diagnosis: colorectal symptoms; 50-100 polyps" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149673" "00198" "00202526" "00640" "Familial, autosomal recessive" "" "polyps; splice site not recognized (fruitfly); no EGD; No CRC; diagnosis: colorectal symptoms; 10-50 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149674" "00091" "00202527" "00640" "Unknown" "" "family history Sporadic; No duodenal polyps, No duodenal cancer, 20 fundic gland polyps; EGD 46y; 44y-CRC splenic flexure; diagnosis: colorectal symptoms; 50-100 polyps" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149675" "00198" "00202528" "00640" "Unknown" "" "polyps; family history AD; benign skin tumor; duodenal polyps, No gastric polyps; EGD 36y; no CRC; diagnosis: colorectal symptoms; >100 polyps" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149676" "00091" "00202529" "00640" "Unknown" "" "CRC - stage B1and B1, MSS;family history Sporadic; sebaceous gland adenoma (68), benign skin tumor (74);; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 58y; 45/68y-hepatic flexure and rectum/sigmoid; diagnosis: colorectal symptoms; >100 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149677" "00198" "00202530" "00640" "Unknown" "" "polyps; family history AD; no EGD; no CRC; diagnosis: colorectal symptoms; >100 polyps" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149678" "00091" "00202531" "00640" "Unknown" "" "family history Sporadic; 25 duodenal adenomas, No duodenal cancer, fundic gland polyp; EGD 50y; 40y-CRC rectum; sigmoid; diagnosis: colorectal symptoms; 10-50 polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149679" "00198" "00202532" "00640" "Unknown" "" "3 unrelated homozygous patientsIndia; multiple colorectal adenomas" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149680" "00198" "00202533" "00640" "Unknown" "" "healthy individual; conserved; change of the first of 4 cysteine residues within iron-sulfur binding domain of expressed protein;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149681" "03381" "00202534" "00640" "Unknown" "" "in gastric tumor of patient with sporadic gastric cancer, H.pylori +. Not in normal DNA." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149682" "00198" "00202535" "00640" "Unknown" "" "brother and sister of first-cousin parents; multiple colorectal adenomatous and childhood pilomatricomas" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149684" "00198" "00202537" "00640" "Unknown" "" "polyps; no EGD; no CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149685" "00198" "00202538" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149686" "00091" "00202539" "00100" "Unknown" "" "family history unknown; no EGD; 39y-CRC; 20-30 polyps" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149687" "00091" "00202540" "00100" "Unknown" "" "testicular cancer (41); single case; No duodenal polyps, No duodenal cancer, No gastric polyps; 51y-CRC Rectum; 80 polyps; adenomas proximal and distal" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149688" "00091" "00202541" "00100" "Unknown" "" "melanoma (32); Mother and grandfather CRC; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 46y; 46y-CRC Rectum; <100; >100 polyps at 46y; adenomas diffuse" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149689" "00091" "00202542" "00100" "Unknown" "" "bladder carcinoma (62), basalioma (62); single case; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 49y; 49y-CRC Rectum; caecum; >150 polyps; adenomas irregular" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149690" "05489" "00202543" "00640" "Unknown" "" "Multiple polyps; CRC sigmoid; stage A; Age CRC 46; family history AD;" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149691" "00198" "00202544" "00640" "Unknown" "" "polyps; 10-50 polyps; CRC none; family history AR;" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149692" "00091" "00202545" "00640" "Unknown" "" "100-1000 polyps; CRC ascending colon; stage A; MSS; Age CRC 44; family history AR" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149693" "00198" "00202546" "00640" "Unknown" "" "polyps; 10-50 polyps; CRC none; MSS; family history AD" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149694" "00198" "00202547" "00640" "Unknown" "" "desmoid; family history Sporadic; Age 27 mesenteric desmoid tumour; duodenum unknown; desmoids; no CRC; diagnosis: desmoid; 2 polyps" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149695" "05487" "00202548" "00640" "Unknown" "" "30 polyps; CRC rectum; stage A; Age CRC 42; family history Sporadic;; diagnosis: colorectal symptoms; 30 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149697" "05093" "00202550" "00640" "Unknown" "" "carcinoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149700" "05093" "00202553" "00640" "Unknown" "" "carcinoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149704" "00198" "00202557" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149705" "00198" "00202558" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149706" "00198" "00202559" "00640" "Unknown" "" "adenoma; Left sided poorly differentiated Dukes B cancer. No allelic loss in tumor;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149707" "00198" "00202560" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149708" "00198" "00202561" "00640" "Unknown" "" "mulitple polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149709" "00198" "00202562" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149710" "00198" "00202563" "00640" "Unknown" "" ">100 polyps" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149711" "00198" "00202564" "00640" "Unknown" "" "adenoma; 14 polyps" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149712" "00198" "00202565" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149713" "00198" "00202566" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149716" "00198" "00202569" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149718" "00198" "00202571" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149719" "00314" "00202572" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149720" "00198" "00202573" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149721" "00198" "00202574" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149722" "00198" "00202575" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149723" "00198" "00202576" "00640" "Unknown" "" "Found in lungcancer patient (control); not conserved" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149724" "00198" "00202577" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149725" "00198" "00202578" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149726" "00198" "00202579" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149727" "00198" "00202580" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149728" "00198" "00202581" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149729" "00198" "00202582" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149730" "00198" "00202583" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149731" "00198" "00202584" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149732" "00198" "00202585" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149733" "00198" "00202586" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149734" "00198" "00202587" "00640" "Unknown" "" "polyps, CRC; colorectal phenotype multiple polyps; mulitple polyps" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149735" "00198" "00202588" "00640" "Unknown" "" "polyps, CRC; colorectal phenotype attennuated; 20-50 polyps" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149736" "00198" "00202589" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149737" "00198" "00202590" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149738" "00198" "00202591" "00640" "Unknown" "" "19% of mutations in portugalnot in 100 controls Portugal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149739" "00198" "00202592" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149740" "00198" "00202593" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149741" "00198" "00202594" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149742" "00198" "00202595" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149743" "00198" "00202596" "00640" "Unknown" "" "not in 150 controls portugal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149744" "00198" "00202597" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149745" "00198" "00202598" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149746" "00198" "00202599" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149747" "00091" "00202600" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149748" "00091" "00202601" "00640" "Isolated (sporadic)" "" "ACII neg; 64/69y-CRC" "" "64y" "" "" "MSI-L" "" "" "" "" "" "" "" "" "" "" "0000149749" "00091" "00202602" "00640" "Isolated (sporadic)" "" "ACII neg; 48y-CRC" "" "48y" "" "MLH1+;MSH2+;MSH6+" "MSI-L" "" "" "" "" "" "" "" "" "" "" "0000149750" "00198" "00202603" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149751" "00198" "00202604" "00640" "Unknown" "" "mulitple polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149752" "05489" "00202605" "00640" "Unknown" "" "FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149753" "00198" "00202606" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149754" "00198" "00202607" "00640" "Unknown" "" "polyps; Recessive inheritance; affected sister (polyps at age 23 y) homozygous; healthy brother wild-type; affected brother (CRC at age 29 y) not tested; one healthy sib not tested; normal duodenum; no CRC; 50 polyps; adenomas Left" "" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149755" "00198" "00202608" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149756" "05489" "00202609" "00640" "Unknown" "" "FAP: 100s of adenomatous+hyperplastic polyps.; 100s polyps" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149757" "00198" "00202610" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149759" "00198" "00202612" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149760" "00198" "00202613" "00640" "Unknown" "" "polyps; diagnosis: colorectal symptoms; mulitple polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149761" "00198" "00202614" "00640" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149762" "00318" "00202615" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149763" "05489" "00202616" "00640" "Unknown" "" "FAP; no CRC; diagnosis: colorectal symptoms; colorectal phenotype classical; >100 polyps" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149764" "00198" "00202617" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149766" "00198" "00202619" "00640" "Unknown" "" "mulitple polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149767" "00198" "00202620" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149768" "00091" "00202621" "00640" "Unknown" "" "benign skin tumor (50); died of CRC (53); No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 50y; 52y-CRC; diagnosis: colorectal symptoms; 50-100 polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149769" "00198" "00202622" "00640" "Unknown" "" "no CRC; diagnosis: colorectal symptoms; >30 polyps" "" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149772" "00198" "00202625" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149773" "00091" "00202626" "00640" "Unknown" "" "52y-CRC; diagnosis: colorectal symptoms" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149774" "00091" "00202627" "00640" "Unknown" "" "no EGD; 51y-CRC; diagnosis: colorectal symptoms; 10-100 polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149776" "05490" "00202629" "00640" "Unknown" "" "duodenal cancer; diagnosis: duodenal cancer" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149777" "00198" "00202630" "00640" "Unknown" "" "no CRC; diagnosis: colorectal symptoms; 30-40 polyps" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149778" "00198" "00202631" "00640" "Unknown" "" "73/73/73y-CRC; diagnosis: colorectal symptoms; colorectal phenotype atypical; >10 polyps" "" "73y" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000149779" "00198" "00202632" "00640" "Unknown" "" "mulitple polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149780" "00198" "00202633" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149781" "00198" "00202634" "02939" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149782" "00198" "00202635" "02939" "Unknown" "" "adenomas, CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149783" "00198" "00202636" "02939" "Unknown" "" "normal colonoscopy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149784" "00198" "00202637" "02939" "Unknown" "" "normal colonoscopy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149785" "00198" "00202638" "02939" "Unknown" "" "normal colonoscopy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149786" "00198" "00202639" "02939" "Unknown" "" "normal colonoscopy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149787" "00198" "00202640" "02939" "Unknown" "" "normal colonoscopy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149788" "00198" "00202641" "02939" "Unknown" "" "normal colonoscopy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149789" "00198" "00202642" "02939" "Unknown" "" "normal colonoscopy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149790" "00198" "00202643" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149791" "00198" "00202644" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149792" "00198" "00202645" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149793" "00198" "00202646" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149794" "00198" "00202647" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149795" "00091" "00202648" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149796" "00091" "00202649" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149797" "00091" "00202650" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149798" "00198" "00202651" "02939" "Unknown" "" "adenomas, (CRC)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149799" "00198" "00202652" "02939" "Unknown" "" "adenomas, (CRC)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149800" "00198" "00202653" "02939" "Unknown" "" "adenomas, (CRC)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149801" "00198" "00202654" "02939" "Unknown" "" "adenomas, CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149802" "00198" "00202655" "02939" "Unknown" "" "leukemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149803" "00198" "00202656" "02939" "Unknown" "" "leukemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149804" "00198" "00202657" "02939" "Unknown" "" "leukemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149805" "00198" "00202658" "02939" "Unknown" "" "leukemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149806" "00091" "00202659" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149807" "00091" "00202660" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149808" "00091" "00202661" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149809" "00091" "00202662" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149810" "00091" "00202663" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149811" "00091" "00202664" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149812" "00091" "00202665" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149813" "00091" "00202666" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149814" "00091" "00202667" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149815" "00091" "00202668" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149816" "00091" "00202669" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149817" "00091" "00202670" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149818" "00091" "00202671" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149819" "00091" "00202672" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149820" "00091" "00202673" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149821" "00091" "00202674" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149822" "00091" "00202675" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149823" "00091" "00202676" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149824" "00091" "00202677" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149825" "00091" "00202678" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149826" "00091" "00202679" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149827" "00091" "00202680" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149828" "00091" "00202681" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149829" "00091" "00202682" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149830" "00091" "00202683" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149831" "00091" "00202684" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149832" "00091" "00202685" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149833" "00091" "00202686" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149834" "00091" "00202687" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149835" "00091" "00202688" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149836" "00091" "00202689" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149837" "00091" "00202690" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149838" "00091" "00202691" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149839" "00091" "00202692" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149840" "00091" "00202693" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149841" "00091" "00202694" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149842" "00091" "00202695" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149843" "00091" "00202696" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149844" "00091" "00202697" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149845" "00091" "00202698" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149846" "00091" "00202699" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149847" "00091" "00202700" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149848" "00091" "00202701" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149849" "00091" "00202702" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149850" "00091" "00202703" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149851" "00091" "00202704" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149852" "00091" "00202705" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149853" "00091" "00202706" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149854" "00091" "00202707" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149855" "00091" "00202708" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149856" "00091" "00202709" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149857" "00091" "00202710" "02939" "Unknown" "" "CRC and/or polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149858" "00091" "00202711" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149859" "00314" "00202712" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149860" "00091" "00202713" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149861" "00091" "00202714" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149862" "00198" "00202715" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149863" "00198" "00202716" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149864" "00198" "00202717" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149865" "00198" "00202718" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149866" "00091" "00202719" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149867" "00091" "00202720" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149868" "00091" "00202721" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149869" "00091" "00202722" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149870" "00091" "00202723" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149871" "00091" "00202724" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149872" "00091" "00202725" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149873" "00091" "00202726" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149874" "00091" "00202727" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149875" "00091" "00202728" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149876" "00091" "00202729" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149877" "00091" "00202730" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149878" "00091" "00202731" "02939" "Unknown" "" "CRC or control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149879" "00091" "00202732" "02939" "Unknown" "" "CRC or control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149880" "00091" "00202733" "02939" "Unknown" "" "CRC or control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149881" "00091" "00202734" "02939" "Unknown" "" "CRC or control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149882" "00091" "00202735" "02939" "Unknown" "" "CRC or control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149883" "00318" "00202736" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149884" "00318" "00202737" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149885" "00318" "00202738" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149886" "00318" "00202739" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149887" "00318" "00202740" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149888" "00318" "00202741" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149889" "00318" "00202742" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149890" "00318" "00202743" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149891" "00198" "00202744" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149892" "00198" "00202745" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149896" "05497" "00202749" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149897" "00091" "00202750" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149898" "00198" "00202751" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149899" "00091" "00202752" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149900" "00198" "00202753" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149901" "00091" "00202754" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149902" "00198" "00202755" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149903" "00091" "00202756" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149904" "00198" "00202757" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149905" "00091" "00202758" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149906" "00198" "00202759" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149908" "00882" "00202761" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149909" "05154" "00202762" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149910" "00091" "00202763" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149913" "00198" "00202766" "00640" "Unknown" "" "no CRC; diagnosis: colorectal symptoms; mulitple polyps" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149914" "00198" "00202767" "00640" "Unknown" "" "polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149915" "00198" "00202768" "00640" "Unknown" "" "no CRC; diagnosis: colorectal symptoms; polyposis" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149916" "05489" "00202769" "00640" "Unknown" "" "53y-CRC; diagnosis: colorectal symptoms" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149917" "00091" "00202770" "00640" "Unknown" "" "46y-CRC; diagnosis: colorectal symptoms; polyps" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149918" "05489" "00202771" "00640" "Unknown" "" "62y-CRC; diagnosis: colorectal symptoms; >80 polyps" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149919" "00198" "00202772" "00640" "Unknown" "" "polyps; 1 duodenal adenoma; No duodenal cancer; No gastric polyps; EGD 68y; No CRC; diagnosis: colorectal symptoms; polyposis" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149920" "00198" "00202773" "00640" "Unknown" "" "polyps; relative of patient with homozygout p.Tyr179Cys; No duodenal polyps, No duodenal cancer, No gastric polyps; no CRC; diagnosis: colorectal symptoms; 10-20 polyps" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149921" "00198" "00202774" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149922" "00198" "00202775" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149923" "00198" "00202776" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149924" "05489" "00202777" "00640" "Unknown" "" "CRC sigmoid; 55y-CRC; mulitple polyps" "" "" "" "normal" "CRC: MSS" "" "" "" "" "" "" "" "" "" "" "0000149925" "00198" "00202778" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149926" "00198" "00202779" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149927" "05489" "00202780" "00640" "Unknown" "" "47y-CRC; diagnosis: colorectal symptoms; many polyps" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149928" "00198" "00202781" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149929" "00198" "00202782" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149930" "00198" "00202783" "00640" "Unknown" "" ">26 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149931" "00198" "00202784" "00640" "Unknown" "" "healthy; family of patient with Gly396Asp and c.998-13T>G; no CRC; no polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149932" "05489" "00202785" "00640" "Unknown" "" "41y-CRC; diagnosis: colorectal symptoms" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149933" "05489" "00202786" "00640" "Unknown" "" "47y-CRC; diagnosis: colorectal symptoms; 40 polyps; adenomas whole colon" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149934" "00198" "00202787" "00640" "Unknown" "" "polyps; diagnosis: colorectal symptoms; polyposis" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149935" "05489" "00202788" "00640" "Unknown" "" "58/58y-CRC; diagnosis: colorectal symptoms; >40 polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149936" "00198" "00202789" "00640" "Unknown" "" "diagnosis: colorectal symptoms; polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149937" "00198" "00202790" "00640" "Unknown" "" "polyps; 1 polyp in pouch; prostca:64; EGD 1 polyp; colectomy 46y; CRC sigmoid; polyposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149938" "00091" "00202791" "00640" "Unknown" "" "7 tub.vil. adenomas + distal cluster of smal tub. + tubvil adenomas + 2 hyperpl. polyps (36y);Ovarium cancer:35; 38y-CRC; diagnosis: colorectal symptoms; 10-20 polyps" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149939" "05489" "00202792" "00640" "Unknown" "" "tubular and tubulovillous adenomas; 52/57/57/57y-coecum, 3xsigmoid; diagnosis: colorectal symptoms; many polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149940" "00198" "00202793" "00640" "Unknown" "" "diagnosis: colorectal symptoms; >100 polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149941" "00198" "00202794" "00640" "Unknown" "" "diagnosis: colorectal symptoms; polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149942" "05489" "00202795" "00640" "Unknown" "" "tubular adenoma with severe dysplasia; 44y-4 CRC; diagnosis: colorectal symptoms; polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149943" "00091" "00202796" "00640" "Unknown" "" "urothelial carcinoma47; 54y-CRC; diagnosis: colorectal symptoms; >60 polyps" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149944" "05489" "00202797" "00640" "Unknown" "" "53y-CRC; diagnosis: colorectal symptoms; ~10 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149945" "00198" "00202798" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149946" "00198" "00202799" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149947" "00198" "00202800" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149948" "00198" "00202801" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149949" "00198" "00202802" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149950" "00198" "00202803" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149951" "00198" "00202804" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149952" "00198" "00202805" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149953" "00198" "00202806" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149954" "00198" "00202807" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149955" "00198" "00202808" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149957" "00198" "00202810" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149958" "00198" "00202811" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149959" "00198" "00202812" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149960" "00198" "00202813" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149961" "00198" "00202814" "02939" "Unknown" "53y" "adenomas, CRC; 53y-CRC Right-sided; mulitple polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149962" "00198" "00202815" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149963" "00198" "00202816" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149964" "00198" "00202817" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149965" "00198" "00202818" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149966" "00198" "00202819" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149967" "00198" "00202820" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149968" "00198" "00202821" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149969" "00198" "00202822" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149970" "00198" "00202823" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149971" "00198" "00202824" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149972" "00198" "00202825" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149974" "00198" "00202827" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149975" "00198" "00202828" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149976" "00198" "00202829" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149977" "00198" "00202830" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149978" "00198" "00202831" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149979" "00198" "00202832" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149980" "00198" "00202833" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149981" "00198" "00202834" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149982" "00198" "00202835" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149983" "00198" "00202836" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149984" "00198" "00202837" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149985" "00091" "00202838" "00645" "Unknown" "" "No extracolonic disease; 3/11 siblings CRC (age 49-54); no CRC; colorectal phenotype attennuated; >50 polyps" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149986" "00198" "00202839" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149987" "05489" "00202840" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149988" "00198" "00202841" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149989" "00198" "00202842" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149991" "00198" "00202844" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149992" "00091" "00202845" "00645" "Unknown" "" "no extracolonic disease, adenocarcinoma; 48y-CRC Transverse colon; colorectal phenotype attennuated; 74 polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149993" "00198" "00202846" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149994" "00198" "00202847" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149995" "00198" "00202848" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149996" "00198" "00202849" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149997" "00198" "00202850" "00642" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149998" "00198" "00202851" "00642" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000149999" "00423" "00202852" "02939" "Unknown" "" "Muir-Torre syndrome: sebaceous carcinoma of the face, no mutations and exonic deletions in MLH1, MSH2 and MSH6" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150000" "00423" "00202853" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150001" "00423" "00202854" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150002" "00423" "00202855" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150003" "00423" "00202856" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150004" "00423" "00202857" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150005" "00423" "00202858" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150006" "00198" "00202859" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150007" "00198" "00202860" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150014" "00091" "00202867" "02939" "Isolated (sporadic)" "" "No extracolonic disease; CRC; colorectal phenotype attennuated; 25-30 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150015" "00198" "00202868" "02939" "Isolated (sporadic)" "" "polyps; No extracolonic disease; no CRC; colorectal phenotype attennuated; <100 polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150016" "00198" "00202869" "02939" "Familial" "" "polyps; No extracolonic disease; no CRC; colorectal phenotype attennuated; 40-60 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150017" "00091" "00202870" "02939" "Unknown" "" "No extracolonic disease; CRC; colorectal phenotype attennuated; <100 polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150018" "00198" "00202871" "02939" "Familial" "" "polyps; No extracolonic disease; no CRC; colorectal phenotype attennuated; 40-100 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150019" "00198" "00202872" "02939" "Familial" "" "polyps; No extracolonic disease; no CRC; colorectal phenotype attennuated; <100 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150020" "00091" "00202873" "02939" "Isolated (sporadic)" "" "No extracolonic disease; CRC; colorectal phenotype attennuated; 31-100 polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150021" "00091" "00202874" "02939" "Isolated (sporadic)" "" "No extracolonic disease; CRC; >30 polyps" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150022" "00091" "00202875" "02939" "Familial" "" "No extracolonic disease; CRC; colorectal phenotype attennuated; 5 polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150023" "00198" "00202876" "02939" "Familial" "" "polyps; No extracolonic disease; no CRC; colorectal phenotype attennuated; 15-30 polyps" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150024" "00091" "00202877" "02939" "Unknown" "" "No extracolonic disease; CRC; >20 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150025" "00198" "00202878" "02939" "Familial" "" "polyps; No extracolonic disease; no CRC; colorectal phenotype attennuated; 40-50 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150026" "00091" "00202879" "02939" "Isolated (sporadic)" "" "No extracolonic disease; CRC; colorectal phenotype attennuated; 70 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150027" "00091" "00202880" "02939" "Unknown" "" "Breast Cancer (age 59); CRC; colorectal phenotype attennuated; no polyps" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150028" "05489" "00202881" "02939" "Unknown" "" "(A)FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150029" "05489" "00202882" "02939" "Unknown" "" "(A)FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150030" "05489" "00202883" "02939" "Unknown" "" "(A)FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150031" "05489" "00202884" "02939" "Unknown" "" "(A)FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150032" "05489" "00202885" "02939" "Unknown" "" "(A)FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150033" "00091" "00202886" "02939" "Isolated (sporadic)" "" "No extracolonic disease; CRC; colorectal phenotype attennuated; 50-60 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150034" "05489" "00202887" "02939" "Unknown" "" "(A)FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150035" "05489" "00202888" "02939" "Unknown" "" "(A)FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150036" "00091" "00202889" "02939" "Unknown" "" "Gastric adenocarcinoma; gastrectomy (52); Fibrous lesion (63); Sebaceous ademoma face (63); Germline: SEQ+MLPA MLH1, MSH2, MSH6; MLPA PMS2 normal; 57y-left hemi+subtotal+iliorect. anastomosis; 3x age 57y-2x sigmoid, 1x cecum; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 10+4 polyps" "" "57y" "" "MLH1+;MSH2+;MSH6+;PMS2+" "Gastric (MSI), cecal (MSS), sebaceous (MSS)" "" "" "" "" "" "" "" "" "" "" "0000150037" "00198" "00202890" "02939" "Familial" "" "63y-total colectomy; No CRC (but colectomy ~63); diagnosis: call (screening); >50 polyps" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150038" "01524" "00202891" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150039" "01524" "00202892" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150040" "01524" "00202893" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150041" "00198" "00202894" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150042" "00198" "00202895" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150043" "00198" "00202896" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150044" "01524" "00202897" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150045" "01524" "00202898" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150046" "01524" "00202899" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150047" "01524" "00202900" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150048" "00198" "00202901" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150049" "00198" "00202902" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150050" "00198" "00202903" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150051" "00198" "00202904" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150052" "00198" "00202905" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150053" "00091" "00202906" "02939" "Familial" "" "Histology: tubular adenomas, low-grade dysplasia; Positive family histrory, two generations, two patients; No osteomas and thyroid tumors; other extracolonic features: no information; CRC; colorectal phenotype classical; >100 polyps; adenomas Polyps in whole colon and rectum" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150054" "00091" "00202907" "02939" "Isolated (sporadic)" "" "Histology: tubular adenomas, low-grade dysplasia; Negative family history; Desmoid, duodenal tumors, fundic gland polyps, CHRPE not evaluated; desmoids; CRC; colorectal phenotype classical; >100 polyps; adenomas Polyps in whole colon, mainly left" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150055" "00091" "00202908" "02939" "Familial" "" "Histology: tubulovillous adenomas, high-grade dysplasia and hyperplastic polyps; Positive family histrory, two generations, two patients; Extracolonic features: no information; CRC; colorectal phenotype classical; >100 polyps; adenomas Polyps in whole colon" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150056" "00091" "00202909" "02939" "Familial" "" "Histology: tubular adenomas and hyperplastic polyps; Positive family histrory, two generations, five patients; No extracolonic features; desmoid tumor and CHRPE not evaluated; CRC; colorectal phenotype attennuated; below 100 polyps; adenomas Polyps in whole colon and rectum" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150057" "00091" "00202910" "02939" "Familial" "" "Histology: tubulovillous adenomas, low-grade dysplasia; Positive family histrory, one generation, two patients; Duodenal tumors; desmoids; CRC; colorectal phenotype attennuated; 20-30 polyps; adenomas Polyps in whole colon and rectum" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150058" "00091" "00202911" "02939" "Familial" "" "Histology: tubular adenomas, low-grade dysplasia; Positive family histrory, two generations, five patients; Extracolonic features: no information; CRC; colorectal phenotype attennuated; ~20 polyps; adenomas Polyps in whole colon" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150059" "00198" "00202912" "02939" "Familial" "" "polyps; Histology: tubular adenomas (low-grade and high-grade dysplasia); Positive family histrory; Extracolonic features: no information; no CRC; colorectal phenotype attennuated; 30 polyps; adenomas Polyps in whole colon, mainly splenic flexure" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150060" "00198" "00202913" "02939" "Familial" "" "polyps; Histology: tubular adenomas (low-grade and high-grade dysplasia); Positive family histrory, two generations, three patients; No duodenal tumors; other extracolonic features: no information; no CRC; colorectal phenotype attennuated; 50-100 polyps; adenomas Polyps in whole colon" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150061" "00198" "00202914" "02939" "Familial" "" "polyps; Histology: tubular adenomas, low-grade dysplasia; Positive family histrory, one generation, two patients; No duodenal tumors; other extracolonic features: no information; no CRC; colorectal phenotype attennuated; ~30 polyps; adenomas Polyps in whole colon" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150062" "00198" "00202915" "02939" "Familial" "" "polyps; Histology: tubular adenomas, low-grade dysplasia; Positive family histrory, two generations, three patients; Thyroid tumors; no osteomas; other extracolonic features: no information; no CRC; colorectal phenotype attennuated; ~10 polyps; adenomas Polyps in whole colon, mainly right" "" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150063" "00091" "00202916" "02939" "Familial" "" "Histology: tubulovillous adenomas, high-grade dysplasia and tubular adenomas, low-grade dysplasia; Positive family histrory, one generation, two patients; Extracolonic features: no information; CRC; colorectal phenotype attennuated; ~70 polyps; adenomas Polyps in whole colon" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150064" "00091" "00202917" "02939" "Isolated (sporadic)" "" "Histology: tubular adenomas; Negative family history; No osteomas; sebaceous cysts; other extracolonic features: no information; epidermoid cysts; CRC; colorectal phenotype attennuated; >40 polyps; adenomas Polyps in whole colon and rectum" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150065" "00198" "00202918" "02939" "Isolated (sporadic)" "" "polyps; Histology: tubular adenomas, low-grade dysplasia; Negative family history; No osteomas; other extracolonic features: no information; no CRC; colorectal phenotype attennuated; 50-100 polyps; adenomas Polyps in whole colon, mainly left" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150066" "00091" "00202919" "02939" "Isolated (sporadic)" "" "Histology: tubular adenomas, low-grade dysplasia; Negative family history; Extracolonic features: no information; CRC; colorectal phenotype attennuated; 90-100 polyps; adenomas" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150067" "00091" "00202920" "02939" "Isolated (sporadic)" "" "Histology: tubular adenomas, low-grade dysplasia; Negative family history; No extracolonic features; CRC; colorectal phenotype attennuated; ~30 polyps; adenomas Polyps in whole colon and rectum" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150068" "00198" "00202921" "02939" "Isolated (sporadic)" "" "polyps; Histology: tubular adenomas (low-grade and high-grade dysplasia); Negative family history; Extracolonic features: no information; no CRC; colorectal phenotype attennuated; 50-70 polyps; adenomas Polyps in whole colon" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150069" "00091" "00202922" "02939" "Isolated (sporadic)" "" "Histology: tubular adenomas, low-grade dysplasia; Negative family history; No extracolonic features; CRC; colorectal phenotype attennuated; ~30 polyps; adenomas Polyps in whole colon" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150070" "00091" "00202923" "02939" "Isolated (sporadic)" "" "Histology: information not available; Negative family history; Extracolonic features: no information; CRC; colorectal phenotype attennuated; 12 polyps; adenomas" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150071" "00091" "00202924" "02939" "Isolated (sporadic)" "" "Histology: tubular adenomas; Negative family history; CHRPE; CRC; colorectal phenotype attennuated; ~20 polyps; adenomas Polyps in whole colon and rectum" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150072" "00091" "00202925" "02939" "Familial" "" "Histology: tubulovillous adenomas ; Positive family histrory, one generation; Extracolonic features: no information; CRC; colorectal phenotype attennuated; Multiple polyps; adenomas Polyps in whole colon" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150073" "00091" "00202926" "02939" "Familial" "" "Histology: tubular adenomas (low-grade and high-grade dysplasia); Positive family histrory, one generation, two patients; Extracolonic features: no information; CRC; colorectal phenotype attennuated; 50-60 polyps; adenomas Polyps in left colon" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150074" "00091" "00202927" "02939" "Unknown" "" "Left-sided CRC age 29; Spanish man; 29y-Left; no polyps" "" "29y" "" "" "MSS or MSI-L" "" "" "" "" "" "" "" "" "" "" "0000150075" "05489" "00202928" "02939" "Unknown" "" "Family history unknown; 31y-Cecum" "" "31y" "" "" "MSS or MSI-L" "" "" "" "" "" "" "" "" "" "" "0000150076" "00198" "00202929" "02939" "Familial" "" "polyps; multiple sebaceous cysts; mother CRC third decade, ovarian cancer 70 y, two maternal aunts CRC 50 y; epidermoid cysts; 39y-CRC Rectum; colorectal phenotype attennuated; 12 polyps; adenomas descending colon + sigmoid" "" "39y" "" "MLH1+;MSH2+" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150077" "05489" "00202930" "02939" "Unknown" "" "Family history unknown; 48y-Cecum" "" "48y" "" "" "MSS or MSI-L" "" "" "" "" "" "" "" "" "" "" "0000150078" "05489" "00202931" "02939" "Familial" "" "sister CRC 30 y (without polyps in 17 years after hemicolectomy); mother polyps (50s); maternal cousin CRC 30 y; maternal aunt CRC 60; 46y-Cecum; colorectal phenotype attennuated; 3 polyps; adenomas ascending colon + sigmoid" "" "46y" "" "MLH1+;MSH2+;MSH6+" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150079" "00198" "00202932" "02939" "Unknown" "" "no polyps; no CRC; no CRC; colorectal phenotype none at colonoscopy; no polyps" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150080" "00198" "00202933" "02939" "Unknown" "" "no polyps; no CRC; no CRC; colorectal phenotype none at colonoscopy; no polyps" "" "77y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150081" "00198" "00202934" "02939" "Unknown" "" "no polyps; no CRC; no CRC; colorectal phenotype none at colonoscopy; no polyps" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150082" "00198" "00202935" "02939" "Unknown" "" "no polyps; no CRC; no CRC; colorectal phenotype none at colonoscopy; no polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150083" "00198" "00202936" "02939" "Unknown" "" "no CRC; colorectal phenotype attennuated; 2 polyps" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150084" "00091" "00202937" "02939" "Unknown" "" "59y-CRC; colorectal phenotype CRC without polyps; no polyps" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150085" "00198" "00202938" "02939" "Unknown" "" "polyps, CRC; colorectal phenotype classical; >150 polyps" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150086" "00091" "00202939" "02939" "Unknown" "" "51y-CRC; colorectal phenotype CRC without polyps; no polyps" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150087" "00091" "00202940" "02939" "Unknown" "" "71y-CRC; colorectal phenotype CRC without polyps; no polyps" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150088" "00091" "00202941" "02939" "Unknown" "" "83y-CRC; colorectal phenotype CRC without polyps; no polyps" "" "83y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150089" "00091" "00202942" "02939" "Unknown" "" "84y-CRC; colorectal phenotype CRC without polyps; no polyps" "" "84y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150090" "00091" "00202943" "02939" "Unknown" "" "66y-CRC; colorectal phenotype CRC without polyps; no polyps" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150091" "00091" "00202944" "02939" "Unknown" "" "71y-CRC; colorectal phenotype CRC without polyps; no polyps" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150092" "00091" "00202945" "02939" "Unknown" "" "48y-CRC; colorectal phenotype CRC without polyps; no polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150093" "00091" "00202946" "02939" "Unknown" "" "48y-CRC; colorectal phenotype CRC without polyps; no polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150094" "00198" "00202947" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype attennuated; 20-50 polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150095" "00198" "00202948" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype classical; 100-500 polyps" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150096" "00198" "00202949" "02939" "Unknown" "" "polyps, CRC; colorectal phenotype multiple polyps; mulitple polyps" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150097" "00198" "00202950" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype multiple polyps; mulitple polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150098" "00198" "00202951" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype classical; 100-500 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150099" "00198" "00202952" "02939" "Unknown" "" "polyps, CRC; colorectal phenotype attennuated; 50-100 polyps" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150100" "00198" "00202953" "02939" "Unknown" "" "polyps, CRC; colorectal phenotype attennuated; 50-100 polyps" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150101" "00198" "00202954" "02939" "Unknown" "" "polyps, CRC; no CRC" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150102" "00198" "00202955" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype multiple polyps; mulitple polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150103" "00198" "00202956" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype attennuated; 20-50 polyps" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150104" "00198" "00202957" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype attennuated; 50-100 polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150105" "00198" "00202958" "02939" "Unknown" "" "polyps, CRC; colorectal phenotype classical; 100-500 polyps" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150106" "00198" "00202959" "02939" "Unknown" "" "polyps, CRC; colorectal phenotype classical; 100-500 polyps" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150107" "00198" "00202960" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype classical; Clinical FAP polyps" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150108" "00198" "00202961" "02939" "Unknown" "" "polyps, CRC; colorectal phenotype classical; 100-500 polyps" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150109" "00198" "00202962" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype attennuated; 20-50 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150110" "00198" "00202963" "02939" "Unknown" "" "polyps, CRC; no CRC; colorectal phenotype multiple polyps; mulitple polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150111" "00198" "00202964" "02939" "Unknown" "" "polyps, CRC; colorectal phenotype attennuated; 4-20 polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150112" "00198" "00202965" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150113" "00091" "00202966" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150114" "00091" "00202967" "02939" "Unknown" "" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150115" "00091" "00202968" "02939" "Unknown" "" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150116" "00091" "00202969" "02939" "Unknown" "" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150117" "00091" "00202970" "02939" "Unknown" "" "" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150118" "00198" "00202971" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150119" "00198" "00202972" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150120" "00198" "00202973" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150121" "00091" "00202974" "02939" "Unknown" "" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150122" "00091" "00202975" "02939" "Unknown" "" "" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150123" "00198" "00202976" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150124" "00091" "00202977" "02939" "Unknown" "" "No other cancers; >60y CRC; colorectal phenotype attennuated; >10 polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150125" "00198" "00202978" "02939" "Unknown" "" "polyps; No other cancers; Family members: female >10 polyps (32); no CRC; colorectal phenotype attennuated; >10 polyps" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150126" "00091" "00202979" "02939" "Unknown" "" "No other cancers; Family members: male CRC (54), polyps unknown; 32y-CRC; colorectal phenotype attennuated; >30 polyps" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150127" "00198" "00202980" "02939" "Unknown" "" "polyps; No other cancers; no CRC" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150128" "00198" "00202981" "02939" "Unknown" "" "polyps; No other cancers; Family members: male >100 polyps (34); no CRC; colorectal phenotype classical; >100 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150129" "00198" "00202982" "02939" "Unknown" "" "polyps; No other cancer; Family members: male 100 polyps (43); female CRC (46); no CRC; colorectal phenotype attennuated; >20 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150130" "00198" "00202983" "02939" "Unknown" "" "polyps; No other cancer; Family members: maie >100 polyps (53) + CRC (53); female >100 polyps (50) + CRC (50) + melanoma (28); male >100 polyps (52); male 30 polyps (31); no CRC; colorectal phenotype attennuated; 21-50 polyps" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150131" "00091" "00202984" "02939" "Unknown" "" "Dysplastic duodenal polyp (40); Family members: male >20 polyps (56); female >20 polyps (45); 47y-CRC; colorectal phenotype attennuated; >50 polyps" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150132" "00198" "00202985" "02939" "Unknown" "" "polyps; No other cancer; no CRC; colorectal phenotype attennuated; >20 polyps" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150133" "00198" "00202986" "02939" "Unknown" "" "polyps; No other cancer; Family members: female >5 polyps (48); female >100 polyps (64) + CRC (61); male CRC (>50); male CRC (>50); male CRC (58); no CRC; colorectal phenotype attennuated; >10 polyps" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150134" "00091" "00202987" "02939" "Unknown" "" "No other cancer; 62y-CRC; colorectal phenotype attennuated; >10 polyps" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150135" "00091" "00202988" "02939" "Unknown" "" "No other cancer; Family members: male melanoma (died 42); male CRC (died 57); 38y-CRC;" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150136" "00198" "00202989" "02939" "Unknown" "" "polyps; Jaw exostosis + sebaceous cysts (34);; no CRC; colorectal phenotype attennuated; >34 polyps" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150137" "00198" "00202990" "02939" "Unknown" "" "polyps; No other cancer; Family members: male CRC (44, died 47); no CRC; colorectal phenotype attennuated; >50 polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150138" "00091" "00202991" "02939" "Unknown" "" "No other cancer; 64y-CRC; colorectal phenotype classical; >100 polyps" "" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150139" "00198" "00202992" "02939" "Unknown" "" "polyps; No other cancer; Family members: male CRC (died 58); no CRC; colorectal phenotype attennuated; >50 polyps" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150140" "00091" "00202993" "02939" "Unknown" "" "No other cancer; CRC (died 86)" "" "84y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150141" "00198" "00202994" "02939" "Unknown" "" "polyps; No other cancer; no CRC; colorectal phenotype attennuated; >20 polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150142" "00091" "00202995" "02939" "Unknown" "" "No other cancer; Family members: male >2 polyps (62); male >2 polyps (52) + CRC (52); 75y-CRC; colorectal phenotype attennuated; >19 polyps" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150143" "00091" "00202996" "02939" "Unknown" "" "tubular adenomas, moderate to severe dysplasia; synchronous moderately differentiated adenocarcinoma (Dukes A) No vertical transmission of colorectal tumor; sibling lungcancer (39); CRC Rectum; >100 polyps" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150144" "00091" "00202997" "02939" "Unknown" "" "synchronous mucinous carcinoma, gastric polyps, epithelial cyst, mandibular osteoma; No vertical transmission of colorectal tumor; Gastric polyps; osteom mandibular; epithelial cyst; CRC Ascending colon; 50 polyps" "" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150145" "00091" "00202998" "02939" "Unknown" "" "One of large colorectal polyps:K-ras GGT>TGT codon 12, two polyps somatic APC GAA>TAA codon 1306; No vertical transmission of colorectal tumor; CRC Transverse colon; >100 polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150146" "00091" "00202999" "02939" "Unknown" "" "adenomas with moderate to severe atypia; 3 synchronous well-differentiated adenocarcinomas; sibling colorectal polyps; No vertical transmission of colorectal tumor; CRC 3 times synchronous,1 ascending colon; 2 descending colon; 21 polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150147" "00091" "00203000" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150148" "00091" "00203001" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150149" "00091" "00203002" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150150" "00091" "00203003" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150151" "00091" "00203004" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150152" "00091" "00203005" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150153" "00091" "00203006" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150154" "00091" "00203007" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150155" "00091" "00203008" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150156" "00091" "00203009" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150157" "00091" "00203010" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150158" "00091" "00203011" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150159" "00198" "00203012" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150160" "00198" "00203013" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150161" "00091" "00203014" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150162" "00198" "00203015" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150163" "00091" "00203016" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150164" "00198" "00203017" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150165" "00091" "00203018" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150166" "00091" "00203019" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150167" "00091" "00203020" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150168" "00091" "00203021" "02939" "Unknown" "" "Dukes B carc; no family history of cancer; Tumor methylation CpG promoter region genes MLH1, HPP1, MGMT, p14ARF/p16INK4a; 1/4 adenomas K-ras codon 12 G>T; CRC; 18 polyps; adenomas proximal" "" "81y" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150169" "00091" "00203022" "02939" "Unknown" "" "Dukes C carc.; family history of cancer; Tumor methylation Methylated IN Tumor (MINT) loci CpG promoter region genes MLH1, HPP1, MGMT, p14ARF/p16INK4a; 6/6 adenomas + cancer K-ras codon 12 G>T; CRC; 50 polyps; adenomas pancolonic" "" "64y" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150170" "00091" "00203023" "02939" "Unknown" "" "APC mut. neg; tubular, tubulo-villous adenomas+hyperplastic; moderately diff. papillary thyroid carcinoma (37); sebaceous adenomas+ hyperplasia face/neck, no APC G>Ts;; moderately diff., partially mucinous adenocarc.Stage II; no dental anomalies; sebaceous: MMR+; APC+; MUTYH- nuclei; 32y-right hemi+total; 32y-hepatic flexure; colorectal phenotype attennuated; 22 polyps, no CHRPE" "" "32y" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150171" "00198" "00203024" "02939" "Unknown" "" "sebaceous cysts" "" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150172" "00198" "00203025" "02939" "Unknown" "" "polyps; 1 polyps" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150173" "00091" "00203026" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150174" "00198" "00203027" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150175" "00091" "00203028" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150176" "00198" "00203029" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150177" "00198" "00203030" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150178" "00198" "00203031" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150179" "00091" "00203032" "00645" "Unknown" "" "no extracolonic disease, adenocarcinoma; 42y-Caecum; colorectal phenotype attennuated; <100 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150180" "00091" "00203033" "00645" "Unknown" "" "No extracolonic disease; no CRC; colorectal phenotype attennuated; 10-20 polyps" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150181" "00091" "00203034" "00645" "Unknown" "" "no extracolonic disease, adenocarcinoma in situ; 50y-Colon; colorectal phenotype attennuated; 2-10 polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150182" "00091" "00203035" "00645" "Unknown" "" "no extracolonic disease, adenocarcinoma in situ; 48y-CRC Rectosigmoid colon; colorectal phenotype classical; >100 polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150183" "00198" "00203036" "00645" "Unknown" "" "polyps (only small intestine); cancer, duodenal; periampullary duodenal cancer 20 y, Small intestinal polyps; sibling(s) with CRC or polyps; periampullary duodenal cancer 20 y; no CRC; colorectal phenotype attennuated; no polyps; multiple polyps" "" "20y-32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150184" "00198" "00203037" "00645" "Unknown" "" "polyps; Osteoma; osteoma; no CRC; colorectal phenotype classical; >50 polyps" "" "<54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150185" "00198" "00203038" "00645" "Unknown" "" "polyps; No small intestinal polyps, no stomach polyps; no CRC; colorectal phenotype attennuated; 70 polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150186" "00198" "00203039" "00645" "Unknown" "" "polyps; No extracolonic disease; sibling(s) with CRC or polyps; no CRC; colorectal phenotype attennuated; 50-100 polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150187" "00198" "00203040" "00645" "Unknown" "" "polyps; No extracolonic disease; no CRC; colorectal phenotype classical; >100 polyps" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150188" "00091" "00203041" "02939" "Unknown" "" "facial lipoma; sibling(s) with CRC or polyps; no CRC; colorectal phenotype attennuated; ~20 polyps" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150189" "00091" "00203042" "02939" "Unknown" "" "No extracolonic disease; sibling(s) with CRC or polyps; no CRC; colorectal phenotype classical; >100 polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150190" "00091" "00203043" "02939" "Unknown" "" "No extracolonic disease; no CRC; colorectal phenotype attennuated; ~43 polyps" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150191" "00091" "00203044" "02939" "Unknown" "" "No extracolonic disease; no CRC; colorectal phenotype attennuated; 5 polyps" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150192" "00091" "00203045" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150193" "00091" "00203046" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150194" "00091" "00203047" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150195" "00091" "00203048" "00640" "Unknown" "" "Severe tooth agenesis; no family history; CRC; colorectal phenotype classical; >100 polyps" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150196" "00198" "00203049" "00640" "Unknown" "" "polyps; Sister multiple polyps; father CRC (52); no CRC; colorectal phenotype attennuated; ~40 polyps" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150197" "00198" "00203050" "00640" "Unknown" "" "Brother ~25 polyps (47)+CRC (48); brother <50 polyps (39); mother few polyps + CRC (66); no CRC; colorectal phenotype attennuated; >50 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150198" "00091" "00203051" "00640" "Unknown" "" "Sister 15 polyps (59); CRC; colorectal phenotype attennuated; 55 polyps" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150199" "00198" "00203052" "00640" "Unknown" "" "polyps; maternal uncle CRC (53); maternal grandmother CRC (80); no CRC; colorectal phenotype attennuated; 18 polyps" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150200" "00198" "00203053" "00640" "Unknown" "" "polyps; Mother CRC (74); no CRC; colorectal phenotype attennuated; a few; multiple (51y) polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150201" "00091" "00203054" "00640" "Unknown" "" "Brother >70 polyps (27-36); maternal cousin CRC (22); CRC; colorectal phenotype attennuated; >10 polyps" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150202" "00091" "00203055" "00640" "Unknown" "" "Colonic arterioveinous malformation (AVM); brother 1 polyp (38) + colonic AVM; father 14 polyps (69) + CRC (69) + Colonic AVM; paternal uncle CRC (<70); paternal grandmother CRC; CRC(53); colorectal phenotype attennuated; 1 polyps" "" "44y" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150203" "00198" "00203056" "02939" "Unknown" "" "polyps; Tubular adenoma; Grading: Mild; Descending colon; 0.5 cm; >100 polyps" "" "58y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150204" "00091" "00203057" "02939" "Unknown" "" "Adenocarcinoma (Dukes’ B); Grading: Well; Cecum; 6 cm; 90 polyps" "" "57y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150205" "00091" "00203058" "02939" "Unknown" "" "Adenocarcinoma (Dukes’ B); Grading: Moderate; Sigmoid; 6.2 cm; >100 polyps" "" "45y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150206" "00198" "00203059" "02939" "Unknown" "" "polyps; Tubular adenomas; Grading: Mild; Rectum; Fragments; <100 polyps" "" "51y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150207" "00091" "00203060" "02939" "Unknown" "" "Adenocarcinoma (Dukes’ B); Grading: Mucinous; Rectum; 3 cm; >100 polyps" "" "56y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150208" "00198" "00203061" "02939" "Unknown" "" "polyps; Tubulovillous adenoma; Grading: Mild; Colon; Fragments; >100 polyps" "" "51y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150209" "00091" "00203062" "02939" "Unknown" "" "Adenocarcinoma (Dukes’ B); Grading: Moderate; Descending colon; 2.5 cm; >100 polyps" "" "37y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150210" "00198" "00203063" "02939" "Unknown" "" "polyps; Tubulovillous adenoma; Grading: Mild; Colon; 1.3 cm; <100 polyps" "" "52y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150211" "00198" "00203064" "02939" "Unknown" "" "polyps; Tubular adenoma; Grading: Mild; Ascending colon; 2.3 cm; >100 polyps" "" "41y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150212" "00198" "00203065" "02939" "Unknown" "" "polyps; Tubular adenoma; Grading: Mild; Colon; 0.5 cm; 17 polyps" "" "57y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150213" "00091" "00203066" "02939" "Unknown" "" "Adenocarcinoma (Dukes’ B); Grading: Poor; Cecum; 3.3 cm; <100 polyps" "" "57y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150214" "00198" "00203067" "02939" "Unknown" "" "polyps; Tubulovillous adenoma; Grading: Mild; Ascending colon; 2.5 cm; 100 polyps" "" "35y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150215" "00091" "00203068" "02939" "Unknown" "" "Adenocarcinoma (Dukes’ A); Grading: Moderate; Sigmoid; 2.8 cm; 70 polyps" "" "51y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150216" "00198" "00203069" "02939" "Unknown" "" "polyps; Tubulovillous adenoma; Grading: Mild; Descending colon; 0.3 cm; 40-50 polyps" "" "65y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150217" "00198" "00203070" "02939" "Unknown" "" "polyps; Tubular adenoma; Grading: Mild; Cecum; 0.5 cm; 40-50 polyps" "" "58y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150218" "00198" "00203071" "02939" "Unknown" "" "polyps; Tubular adenoma; Grading: Mild; Descending colon; 0.6 cm; 50-70 polyps" "" "34y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150219" "00091" "00203072" "02939" "Unknown" "" "Adenocarcinoma (Dukes’ B); Grading: Mucinous; Ascending colon; 0 3 cm; 40-50 polyps" "" "32y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150220" "00198" "00203073" "02939" "Unknown" "" "polyps; Tubular adenoma; Grading: Mild; Ascending colon; Fragments; >100 polyps" "" "43y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000150221" "00198" "00203074" "02939" "Unknown" "" "7 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150222" "00198" "00203075" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150223" "00198" "00203076" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150224" "00198" "00203077" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150225" "00198" "00203078" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150226" "00198" "00203079" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150227" "00198" "00203080" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150228" "00198" "00203081" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150229" "00198" "00203082" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150230" "00198" "00203083" "02939" "Unknown" "" "polyps; Sebaceous tumor: BRAF V600E (c.1799T>A) mutation; MSS; MLH1, MSH2, MSH6, APC normally expressed; no mutations in K-Ras, N-Ras, APC" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150231" "00198" "00203084" "02939" "Unknown" "" "polyps; Sebaceous tumor: BRAF V600E (c.1799T>A) mutation; MSS; MLH1, MSH2, MSH6, APC normally expressed; no mutations in K-Ras, N-Ras, APC" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150232" "00198" "00203085" "02939" "Unknown" "" "polyps; Sebaceous tumor: BRAF V600E (c.1799T>A) mutation; MSS; MLH1, MSH2, MSH6, APC normally expressed; no mutations in K-Ras, N-Ras, APC" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150233" "05487" "00203086" "02939" "Unknown" "" "No extracolonic manifestations; two siblings (43; 41 years) colonoscopic polypectomy for colorectal polyps; No upper gastrointestinal polyps; TPC with IPAA; CRC Rectum; 36 polyps; adenomas pancolonic" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150234" "05489" "00203087" "02939" "Unknown" "" "No extracolonic manifestations; No family history for polyps or CRC; No upper gastrointestinal polyps; Right hemi; CRC Ascending colon; 18 (+21+5 in follow up) polyps; adenomas ascending; hepatic flexure; transverse; descending; sigmoid" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150235" "00198" "00203088" "02939" "Unknown" "" "polyps; No extracolonic manifestations; no CRC; 13 polyps" "" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150236" "00198" "00203089" "02939" "Unknown" "" "polyps; No extracolonic manifestations; no CRC; 36 polyps" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150237" "05487" "00203090" "02939" "Unknown" "" "CHRPE; TPC with IPAA; CRC Rectum; 350 polyps" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150238" "00198" "00203091" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150239" "00198" "00203092" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150240" "00198" "00203093" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150241" "00091" "00203094" "02939" "Unknown" "" "No duodenal adenomas; five early gastric cancers (59); H. Pylori infection. After HP eradication and removal of gastric tumors no gastric tumors identified; No extraintestinal lesions; brother polyps; No duodenal adenomas, Gastric adenoma and carcinoma; 59y-subtotal colectomy; 46/59/59yC-RC rectum, colon, colon; 321 polyps" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150242" "00091" "00203095" "02939" "Unknown" "" "No duodenal adenomas; No gastric lesion; Lipoma; Negative family history; No duodenal adenomas, No gastric lesion; CRC; 147 polyps" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150243" "00198" "00203096" "02939" "Unknown" "" "polyps; Duodenal adenomas; Fundic gland polyps; Osteoma; Negative family history; Duodenal adenomas, Fundic gland polyps; osteoma; no CRC; 1500 polyps" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150244" "00091" "00203097" "02939" "Unknown" "" "Duodenal adenomas; Fundic gland polyps; Desmoid, osteoma, CHRPE; Negative family history; Duodenal adenomas, Fundic gland polyps; desmoids; osteoma; CRC; 2705 polyps" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150245" "00091" "00203098" "02939" "Unknown" "" "Duodenal adenomas; No gastric lesion; Fibroma, tongue carcinoma; Negative family history; Duodenal adenomas, No gastric lesion; CRC; 120 polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150246" "00091" "00203099" "02939" "Unknown" "" "Duodenal adenomas; Fundic gland polyps; Osteoma, hepatocellular carcinoma; Negative family history; Duodenal adenomas, Fundic gland polyps; osteoma; CRC; 750 polyps" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150247" "00198" "00203100" "02939" "Unknown" "" "No duodenal adenomas; No gastric lesion; Fibroma, osteoma; Positive family history; No duodenal adenomas, No gastric lesion; osteoma; no CRC; 30 polyps" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150248" "00198" "00203101" "02939" "Unknown" "" "No duodenal adenomas; Gastric adenoma, fundic gland polyps; Epidermoid cyst; Negative family history; No duodenal adenomas, Gastric adenoma; epidermoid cysts; no CRC; 100 polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150249" "00091" "00203102" "02939" "Unknown" "" "No duodenal adenomas; No gastric lesion; No extraintestinal lesions; Negative family history; No duodenal adenomas, No gastric lesion; CRC; 100 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150250" "00091" "00203103" "02939" "Unknown" "" "No duodenal adenomas; No gastric lesion; No extraintestinal lesions; Negative family history; No duodenal adenomas, No gastric lesion; CRC; 259 polyps" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150251" "00198" "00203104" "02939" "Unknown" "" "polyps; Duodenal adenomas; No gastric lesion; No extraintestinal lesions; Positive family history; Duodenal adenomas, No gastric lesion; no CRC; 1221 polyps" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150252" "00198" "00203105" "02939" "Unknown" "" "No duodenal adenomas; No gastric lesion; No extraintestinal lesions; Negative family history; No duodenal adenomas, No gastric lesion; no CRC; 100 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150253" "00198" "00203106" "02939" "Unknown" "" "polyps; Duodenal adenomas; Gastric carcinoma; Osteoma, desmoid; Negative family history; Duodenal adenomas, Gastric carcinoma; desmoids; osteoma; no CRC; 1144 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150254" "00091" "00203107" "02939" "Unknown" "" "No duodenal adenomas; No gastric lesion; Rectal carcinoid; Negative family history; No duodenal adenomas, No gastric lesion; CRC; 203 polyps" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150255" "00198" "00203108" "02939" "Unknown" "" "polyps; Duodenal adenomas; No gastric lesion; Epidermoid cyst, pancreatic cancer, osteoma; Negative family history; Duodenal adenomas, No gastric lesion; osteoma; no CRC; 1050 polyps" "" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150256" "00091" "00203109" "02939" "Unknown" "" "Duodenal adenomas; Fundic gland polyps; CHRPE, uterus carcinoma, ovarian carcinoma; Negative family history; Duodenal adenomas, Fundic gland polyps; CRC; 83 polyps" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150257" "00198" "00203110" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150258" "00198" "00203111" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150259" "00198" "00203112" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150260" "00198" "00203113" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150261" "00198" "00203114" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150262" "00198" "00203115" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150263" "00198" "00203116" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150264" "00198" "00203117" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150265" "00198" "00203118" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150266" "00198" "00203119" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150267" "00198" "00203120" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150268" "00198" "00203121" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150269" "00198" "00203122" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150270" "00198" "00203123" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150271" "00198" "00203124" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150272" "00198" "00203125" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150273" "00198" "00203126" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150274" "00091" "00203127" "02939" "Unknown" "" "monozygotic twin brother CRC (31); sister CRC (50); sister breast cancer (60); sister abdominal cancer (60s); maternal aunt and 2 maternal uncles CRC; 42y-CRC" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150275" "00091" "00203128" "02939" "Unknown" "" "sister CRC 50 (-/-); mother CRC (63), father CRC (73), maternal aunt CRC (63); maternal aunt leukemia (77); maternal aunt pancreas cancer (55); maternal aunt endometrial cancer (55); 50y-CRC" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150276" "00198" "00203129" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150277" "00198" "00203130" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150278" "00198" "00203131" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150279" "00198" "00203132" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150280" "00091" "00203133" "02939" "Unknown" "" "mother CRC+polyps (70) (G396D/-); maternal aunt CRC (63) (-/-); maternal aunt CRC+polyps (57) (-/-); 43y-CRC; 14+82 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150281" "00091" "00203134" "02939" "Unknown" "" "daughter Cervix ca(Ce)+polyps (G396D/-); daughter Ce(-/-);daughter Ce+desmoid(G396D/-);mother+maternal aunt CRC; mat.uncle prostate ca; mat.grandmother CRC; mat.cousin polyps(-/-);mat.cousin Ce; 64y-CRC" "" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150282" "00091" "00203135" "02939" "Unknown" "" "Sister CRC (50); mother CRC (78); 61y-CRC" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150283" "00091" "00203136" "02939" "Unknown" "" "Sister CRC + breast cancer (80) (G396D/-); sister CRC (52); mother CRC (72); daugher breast cancer (40) (G396D/-); 80y-CRC" "" "80y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150284" "00198" "00203137" "02939" "Unknown" "" "polyps; sister CRC(32)(G396D/-);mother CRC(53)(G396D/-);father bladder ca.(60),urinary tract ca.(62),CRC (68)(-/-); paternal aunt breast ca.(16); pat. grandmother CRC(84);mat.grandfather CRC(72); 12+103 polyps" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150285" "00198" "00203138" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150286" "00198" "00203139" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150287" "00091" "00203140" "02939" "Unknown" "" "brother CRC+polyps(68);mother CRC(89),father liver ca.(50);siblings mother:breast ca.(48);2 stomach ca.;2 CRC(91,85);maternal cousins:1 CRC(70)+BRC(89)(-/-);1 CRC,1 prostate+2 stomach cancer; 47y-CRC; 6+69 polyps" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150288" "00198" "00203141" "02939" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150289" "00198" "00203142" "02939" "Unknown" "" "brother 14 polyps (51) (Y179C/G396D); father Kidney cancer (71); paternal uncle CRC (53); paternal cousin CRC (40s); paternal grandmother pancreas cancer (63); maternal uncle prostate cancer (52); 16+13+8-23 polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150290" "00198" "00203143" "02939" "Unknown" "" "polyps; 8 tubular adenomas; diagnosis: colorectal symptoms; 8 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150291" "00091" "00203144" "02939" "Unknown" "" "67y-CRC; diagnosis: colorectal symptoms; 22 polyps" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150292" "00091" "00203145" "02939" "Unknown" "" "48y 4 CRCs; diagnosis: colorectal symptoms; ~200 polyps" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150293" "00198" "00203146" "02939" "Unknown" "" "polyps; Salivary gland adenoma; sebaceous gland hyperplasia; no CRC; diagnosis: colorectal symptoms; 120 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150294" "00091" "00203147" "02939" "Unknown" "" "Pilar cyst (skin); 50y-CRC; diagnosis: colorectal symptoms; 5 polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150295" "00091" "00203148" "02939" "Unknown" "" "3 gastric antral adenomas; 3 gastric antral adenomas; diagnosis: colorectal symptoms; mulitple polyps" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150296" "00091" "00203149" "02939" "Unknown" "" "Breast cancer (71); 41/65/68y-CRC; diagnosis: colorectal symptoms; mulitple polyps" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150297" "00091" "00203150" "02939" "Unknown" "" "53y-CRC; diagnosis: colorectal symptoms; 11-30 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150298" "00091" "00203151" "02939" "Unknown" "" "51y-CRC; diagnosis: call (screening); 30-40 polyps" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150299" "00091" "00203152" "02939" "Unknown" "" "Multiple tubular adenomas; two synchronous cancers on second diagnosis; 47/48y-CRC; mulitple polyps" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150300" "00091" "00203153" "02939" "Unknown" "" "Two synchronous cancers and 48 tubular adenomas; 50y-CRC; 48 polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150301" "00091" "00203154" "02939" "Unknown" "" "Multiple tubular adenomas; 56/67y-CRC; mulitple polyps" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150302" "00091" "00203155" "02939" "Unknown" "" "Cancer arising from an adenoma; 61y-CRC; 1 polyps" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150303" "00091" "00203156" "02939" "Unknown" "" "Cancer arising in a villous adenoma; 67y-CRC; 1 polyps" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150304" "00091" "00203157" "02939" "Unknown" "" "No polyps; 48y-CRC; no polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150305" "00091" "00203158" "02939" "Unknown" "" "No polyps; 52y-CRC; no polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150306" "00091" "00203159" "02939" "Unknown" "" "No polyps; 58y-CRC; no polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150307" "00091" "00203160" "02939" "Unknown" "" "10-12 small hyperplastic polyps; 57y-CRC; 10-12 polyps" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150308" "00091" "00203161" "02939" "Unknown" "" "Several tubular adenomas (three confirmed); 46y-CRC; several polyps" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150309" "00091" "00203162" "02939" "Unknown" "" "No polyps; 66y-CRC; no polyps" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150310" "00091" "00203163" "02939" "Unknown" "" "Two adenomatous polyps; 35/40y-CRC; 2 polyps" "" "35y-40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150311" "00091" "00203164" "02939" "Unknown" "" "No polyps; 56y-CRC; no polyps" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150312" "00091" "00203165" "02939" "Unknown" "" "No polyps; 72y-CRC; no polyps" "" "72y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150313" "00091" "00203166" "02939" "Unknown" "" "Several hyperplastic polyps; 74y-CRC; several polyps" "" "74y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150314" "00091" "00203167" "02939" "Unknown" "" "One hyperplastic polyp; 49y-CRC; 1 polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150315" "00091" "00203168" "02939" "Unknown" "" "One tubular adenoma; 71y-CRC; 1 polyps" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150316" "00091" "00203169" "02939" "Unknown" "" "Cancer arising in a polyp; 60y-CRC; 1 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150317" "00091" "00203170" "02939" "Unknown" "" "Few hyperplastic polyps; 58y-CRC; few polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150318" "00091" "00203171" "02939" "Unknown" "" "No polyps; 60y-CRC; no polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150319" "00091" "00203172" "02939" "Unknown" "" "No polyps; 72y-CRC; no polyps" "" "72y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150320" "00091" "00203173" "02939" "Unknown" "" "No polyps; 53y-CRC; no polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150321" "00091" "00203174" "02939" "Unknown" "" "No polyps; 54y-CRC; no polyps" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150322" "00091" "00203175" "02939" "Unknown" "" "Few small hyperplastic polyps and few small tubular adenomas; 67y-CRC; few polyps" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150323" "00091" "00203176" "02939" "Unknown" "" "Three hyperplastic polyps; 59y-CRC; 3 polyps" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150324" "00091" "00203177" "02939" "Unknown" "" "No polyps; 70y-CRC; no polyps" "" "70y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150325" "00091" "00203178" "02939" "Unknown" "" "No polyps; 30y-CRC; no polyps" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150326" "00091" "00203179" "02939" "Unknown" "" "Multiple serrated adenomas and hyperplastic polyps ( 24); two synchronous cancers at second diagnosis; 53/59y-CRC; mulitple polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150327" "00091" "00203180" "02939" "Unknown" "" "One polyp; 60y-CRC; 1 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150328" "00091" "00203181" "02939" "Unknown" "" "No polyps; 53y-CRC; no polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150329" "00091" "00203182" "02939" "Unknown" "" "No polyps; 39y-CRC; no polyps" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150330" "00091" "00203183" "02939" "Unknown" "" "Several villous adenomas; 60y-CRC; several polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150331" "00091" "00203184" "02939" "Unknown" "" "No polyps; 56y-CRC; no polyps" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150332" "00091" "00203185" "02939" "Unknown" "" "Cancer arising in a polyp; 63y-CRC; 1 polyps" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150333" "00198" "00203186" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150334" "00198" "00203187" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150335" "00091" "00203188" "02939" "Unknown" "" "pedunculated, sessile polyps; CRC: T2N0; T1N0; son Y165C/Y165C adenomas (21); another son CRC+4 adenomas, died (22); brother CRC + numerous adenomas (45); 2 sisters+brother adenomas; 49/51y-cecum; rectum; >30 polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150336" "00091" "00203189" "02939" "Unknown" "" "34 tubular adenomas, 3 hyperplastic polyps; CRC: T2N0; son (40) + daughter (37) adenomas; sister endometrial cancer (69); 62y-CRC rectum; 37 polyps" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150337" "00091" "00203190" "02939" "Unknown" "" "CRC: T2N0; schwannoma (52) (left acoustic neuroma); no CRC family history; 57/57y-CRC sigmoid; rectum; 50 polyps" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150338" "00091" "00203191" "02939" "Unknown" "" "CRC: T3N1; brother + father CRC; 47y-cecum; 5+11+5 polyps" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150339" "00091" "00203192" "02939" "Unknown" "" "multiple adenomas; CRC: T2N0; carcinoma of ampulla of Vater (66); brother 2 polyps (59) (-/-); Father AFAP (69); brother lung cancer; brother bile duct cancer (?/?);; 36y-CRC rectum; >65 polyps" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150340" "00198" "00203193" "02939" "Unknown" "" "polyps; leukemia (40); mother AFAP (46) + Crohns disease; 2 aunts polyps+CRC (41; 58); brother AFAP (33) + Crohns disease; sister and cousin 2 polyps; no CRC; 48 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150341" "00198" "00203194" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150342" "00198" "00203195" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150343" "00198" "00203196" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150344" "00198" "00203197" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150345" "00198" "00203198" "02939" "Unknown" "" "4 adenomas+6 hyperplastic polyps; 9 polyps" "" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150346" "00091" "00203199" "02939" "Unknown" "" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150347" "00198" "00203200" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150348" "00091" "00203201" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150349" "03381" "00203202" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150350" "03381" "00203203" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150351" "03381" "00203204" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150352" "03381" "00203205" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150353" "00198" "00203206" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150354" "00198" "00203207" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150355" "00198" "00203208" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150356" "00091" "00203209" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150357" "00198" "00203210" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150358" "00198" "00203211" "00640" "Unknown" "" "no CRC; 8 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150359" "05489" "00203212" "00640" "Unknown" "" "56y-CRC; 90-100 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150360" "00198" "00203213" "00640" "Unknown" "" "no CRC; 30 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150361" "05489" "00203214" "00640" "Unknown" "" "39y-CRC; 7 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150362" "05489" "00203215" "00640" "Unknown" "" "35y-CRC; <100 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150363" "05489" "00203216" "00640" "Unknown" "" "48y-CRC; 90-100 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150364" "05489" "00203217" "00640" "Unknown" "" "48y-CRC; 90-100 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150365" "00198" "00203218" "01065" "Unknown" "" "adenoma; duodenal adenomas; CC criteria A-; EGD 45y; 45y-ileoanal anastomosis; 45y-CRC; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 30 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150366" "00198" "00203219" "01065" "Unknown" "" "CC criteria A-; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 2 polyps; adenomas sigmoid" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150367" "00198" "00203220" "01065" "Unknown" "" "diagnosis: call (screening); colorectal phenotype attennuated; 3 polyps; adenome" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150368" "00091" "00203221" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150369" "00198" "00203222" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150370" "05489" "00203223" "00640" "Unknown" "" "CRC Right colon (n = 3); CRC; diagnosis: colorectal symptoms; colorectal phenotype somatic KRAS c.34G>T in tumor; 156 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150371" "00091" "00203224" "00640" "Unknown" "" "CRC Rectum (n=3); diagnosis: colorectal symptoms; colorectal phenotype somatic KRAS c.34G>T and APC c.1554T>A and APC c.1867G>T in tumor; 266 polyps" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150372" "00091" "00203225" "00640" "Unknown" "" "CRC Left colon & rectum (n=2); diagnosis: colorectal symptoms; colorectal phenotype somatic APC c.1858G>T in tumor ; 30 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150373" "00091" "00203226" "00640" "Unknown" "" "CRC Rectum (n=1); diagnosis: colorectal symptoms; colorectal phenotype somatic KRAS c.34G>T and APC c.1579G>T in tumor; 32 polyps" "" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150374" "00198" "00203227" "00640" "Unknown" "" "no CRC; diagnosis: colorectal symptoms; colorectal phenotype somatic APC c.1609G>T in tumor; 40 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150375" "00091" "00203228" "00640" "Unknown" "" "CRC Left colon (n=1); diagnosis: colorectal symptoms; colorectal phenotype somatic APCc.1554T>A in tumor ; 80 polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150376" "00198" "00203229" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150377" "00198" "00203230" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150378" "00198" "00203231" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150379" "00198" "00203232" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150380" "00198" "00203233" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150381" "00198" "00203234" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150382" "00091" "00203235" "00640" "Unknown" "" "75y-CRC; diagnosis: colorectal symptoms; colorectal phenotype somatic APC c.4132C>T,p.Q1378X in tumor; 1 polyps" "" "75y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150383" "00091" "00203236" "00640" "Unknown" "" "57y-CRC; diagnosis: colorectal symptoms; no polyps" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150384" "00091" "00203237" "00640" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150385" "00091" "00203238" "00640" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150386" "00198" "00203239" "00644" "Unknown" "" "adenoma; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 20-30 polyps" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150387" "05489" "00203240" "00644" "Unknown" "" "AFAP; CC criteria B+; 42y-CRC rectum; diagnosis: colorectal symptoms; colorectal phenotype attennuated; several polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150388" "05489" "00203241" "00644" "Unknown" "" "AFAP; colorectal phenotype attennuated; 16 polyps" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150389" "05489" "00203242" "00644" "Unknown" "" "AFAP; CC criteria B+; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 8 polyps" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150390" "05489" "00203243" "00644" "Unknown" "" "AFAP; CC criteria B+; 40y-cecum; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 15 polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150391" "05489" "00203244" "00644" "Unknown" "" "AFAP; No duodenal adenomas, Gastric adenom; CC criteria B+; diagnosis: colorectal symptoms; colorectal phenotype attennuated; >50 polyps" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150392" "05489" "00203245" "00644" "Unknown" "" "AFAP; 52y-CRC; colorectal phenotype attennuated; >50 polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150393" "00314" "00203246" "01067" "Unknown" "" "colorectal phenotype attennuated" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150394" "00314" "00203247" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150395" "00314" "00203248" "01066" "Unknown" "" "colorectal phenotype attennuated" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150396" "05487" "00203249" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150397" "00314" "00203250" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150398" "00198" "00203251" "01066" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150399" "00091" "00203252" "01066" "Unknown" "" "" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150400" "00198" "00203253" "01066" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150401" "00198" "00203254" "01066" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150402" "00314" "00203255" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150403" "00198" "00203256" "01066" "Unknown" "" "adenoma; 7 polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150404" "00318" "00203257" "01066" "Unknown" "" "cancer, rectal" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150405" "00198" "00203258" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150406" "00198" "00203259" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150407" "05489" "00203260" "00643" "Familial" "" "AFAP; normal duodenum; no desmoids; no dental anomalies; no osteoma; no epidermoid cysts; 32y-cecum; diagnosis: colorectal symptoms; colorectal phenotype attennuated; <100 polyps, no CHRPE" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150408" "00198" "00203261" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150409" "00198" "00203262" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150410" "00198" "00203263" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150411" "00198" "00203264" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150412" "00198" "00203265" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150413" "00198" "00203266" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150414" "00198" "00203267" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150415" "00198" "00203268" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150416" "00198" "00203269" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150417" "00198" "00203270" "01065" "Unknown" "" "polyps; No family history; colorectal phenotype attennuated; 50-100 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150418" "00091" "00203271" "01067" "Familial" "" "diagnosis: colorectal symptoms; colorectal phenotype severe" "" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150419" "00314" "00203272" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150420" "00314" "00203273" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150421" "05487" "00203274" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150422" "00314" "00203275" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150423" "00314" "00203276" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150424" "00314" "00203277" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150425" "00314" "00203278" "01066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150426" "00198" "00203279" "00585" "Unknown" "" "CC criteria B-; subtotal colectomy; colorectal phenotype attennuated; adenoma" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150427" "05489" "00203280" "00585" "Unknown" "" "cancer, colon / rectum (42), ceacum (44); CC criteria B+; diagnosis: colorectal symptoms; colorectal phenotype attennuated" "" "42y" "" "MLH1+;MSH2+;MSH6+" "stable" "" "" "" "" "" "" "" "" "" "" "0000150428" "00314" "00203281" "00585" "Unknown" "" "CC criteria B+; total colectomy; diagnosis: colorectal symptoms; colorectal phenotype classical, CHRPE" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150429" "00198" "00203282" "00585" "Unknown" "" "colon ascendens; diagnosis: colorectal symptoms; colorectal phenotype classical; polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150430" "00198" "00203283" "00585" "Unknown" "" "adenoma; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 10-100 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150431" "00198" "00203284" "00585" "Unknown" "" "colorectal phenotype attennuated; polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150432" "00091" "00203285" "01071" "Unknown" "" "" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150433" "00198" "00203286" "01071" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150434" "00198" "00203287" "01071" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150435" "00314" "00203288" "00154" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150436" "00091" "00203289" "00154" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150437" "00198" "00203290" "00154" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150438" "05489" "00203291" "00154" "Unknown" "" "AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150439" "00091" "00203292" "00154" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150440" "00314" "00203293" "00154" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150441" "00198" "00203294" "00154" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150442" "00314" "00203295" "00154" "Unknown" "" "colorectal phenotype attennuated" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150443" "05489" "00203296" "00154" "Unknown" "" "colorectal phenotype severe" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150444" "05489" "00203297" "00154" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150445" "00314" "00203298" "00154" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150446" "00314" "00203299" "00154" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150447" "00198" "00203300" "00154" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150448" "00091" "00203301" "00643" "Unknown" "" "normal duodenum; no desmoids; 41y-total colectomy; 40y-CRC; diagnosis: symptoms; colorectal phenotype classical; >100 polyps; adenomas entire colon" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150449" "00091" "00203302" "00643" "Unknown" "" "normal duodenum; no desmoids; 32y-total colectomy; 29y-cecum and rectum; diagnosis: symptoms; colorectal phenotype classical; >100 polyps; adenomas entire colon" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150452" "00091" "00203305" "00643" "Unknown" "" "normal duodenum; no desmoids; 34y-total colectomy; 32y-ascending colon; diagnosis: symptoms; colorectal phenotype classical; 15 polyps; adenomas spread between rectum and sigmoid conon" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150458" "00091" "00203311" "00643" "Unknown" "" "normal duodenum; no desmoids; 64y-not available; 64y-cecum; diagnosis: symptoms; colorectal phenotype attennuated; 50 polyps" "" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150459" "00091" "00203312" "00643" "Unknown" "" "normal duodenum; no desmoids; 44y-total colectomy; 44y-cecum; diagnosis: call (screening); colorectal phenotype attennuated; 50-100 polyps; adenomas entire colon" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150461" "00198" "00203314" "00643" "Unknown" "" "polyps; normal duodenum; no desmoids; 71y colectomy; no CRC; diagnosis: symptoms; colorectal phenotype attennuated; 50-100 polyps" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150464" "00091" "00203317" "00643" "Unknown" "" "normal duodenum; no desmoids; 37y-total colectomy; 35y-CRC; diagnosis: symptoms; colorectal phenotype classical; 90-100 polyps" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150465" "00198" "00203318" "00643" "Unknown" "" "polyps; normal duodenum; no desmoids; 56y-polypectomy/ no surgery; no CRC; diagnosis: symptoms; colorectal phenotype attennuated; 10-20 polyps; adenomas sigmoid colon" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150466" "00198" "00203319" "00643" "Unknown" "" "polyps; normal duodenum; no desmoids; 49y-polypectomy/ no surgery; no CRC; diagnosis: symptoms; colorectal phenotype attennuated; 5 polyps; adenomas cecum" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150469" "00198" "00203322" "00643" "Unknown" "" "no CRC; colorectal phenotype attennuated; 10 polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150470" "00198" "00203323" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150471" "00198" "00203324" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150472" "00198" "00203325" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150473" "00198" "00203326" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150474" "00198" "00203327" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150475" "00198" "00203328" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150476" "00198" "00203329" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150477" "00198" "00203330" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150478" "00198" "00203331" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150479" "00198" "00203332" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150480" "00198" "00203333" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150481" "00198" "00203334" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150482" "00198" "00203335" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150483" "00198" "00203336" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150484" "00198" "00203337" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150485" "00198" "00203338" "01070" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150486" "00198" "00203339" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150487" "00198" "00203340" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150488" "00198" "00203341" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150489" "00198" "00203342" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150490" "00198" "00203343" "00645" "Unknown" "" "polyps; adenocarcinoma; 34y-CRC Rectosigmoid colon; colorectal phenotype classical; >100 polyps" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150491" "00198" "00203344" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150492" "00198" "00203345" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150493" "00198" "00203346" "00645" "Unknown" "" "colorectal phenotype attennuated; ca. 68 polyps" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150494" "00198" "00203347" "00645" "Unknown" "" "colorectal phenotype attennuated; mulitple polyps" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150495" "00091" "00203348" "00645" "Unknown" "" "adenocarcinoma; 51y-Caecum; colorectal phenotype attennuated; 6-10 polyps" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150496" "00198" "00203349" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150497" "00198" "00203350" "00645" "Unknown" "" "polyps, number?" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150498" "00198" "00203351" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150499" "00091" "00203352" "00645" "Unknown" "" "adenocarcinoma; 53y-CRC Rectosigmoid colon (2 cancers); colorectal phenotype attennuated; ca. 30 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150500" "00198" "00203353" "00645" "Unknown" "" "colorectal phenotype attennuated; ca. 17 polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150501" "00091" "00203354" "00645" "Unknown" "" "adenocarcinoma; 60y-CRC Rectosigmoid colon; colorectal phenotype classical; >100 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150502" "00198" "00203355" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150503" "00091" "00203356" "00645" "Unknown" "" "adenocarcinoma; 55y-Caecum; colorectal phenotype classical; >100 polyps" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150504" "00091" "00203357" "00645" "Unknown" "" "adenocarcinoma; 53y-Colon; colorectal phenotype attennuated; ca. 30 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150505" "00198" "00203358" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150506" "00198" "00203359" "00645" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150507" "00198" "00203360" "00645" "Unknown" "" "polyps, number?" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150508" "00091" "00203361" "00645" "Unknown" "" "adenocarcinoma; 63 and 65y-Caecum & Transverse; colorectal phenotype attennuated; <100 polyps" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150509" "00198" "00203362" "00645" "Unknown" "" "polyps; Stomach polyps; colorectal phenotype attennuated; <50 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150510" "00091" "00203363" "00645" "Unknown" "" "adenocarcinoma; 59y-Caecum; colorectal phenotype attennuated; 10-30 polyps" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150519" "00091" "00203372" "00640" "Unknown" "" "no EGD; 51y-CRC; diagnosis: colorectal symptoms; polyposis" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150524" "00091" "00203377" "00640" "Unknown" "" "melanoma (30); died of CRC (56); 1 duodenal adenoma, Duodenal cancer, No gastric polyps; EGD 56y; 45y-CRC; diagnosis: colorectal symptoms; 30-100 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150526" "00091" "00203379" "00640" "Unknown" "" "benign skin tumor; died of CRC (64); No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 63y; 43y-CRC; diagnosis: colorectal symptoms; mulitple polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150529" "00091" "00203382" "00640" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 62y; 50y-CRC; diagnosis: colorectal symptoms; 10-100 polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150535" "00091" "00203388" "00640" "Unknown" "" "no EGD; 60y-CRC; diagnosis: colorectal symptoms; <100 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150548" "00198" "00203401" "00640" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 29y; no CRC; diagnosis: colorectal symptoms; 30-40 polyps" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150550" "00091" "00203403" "00640" "Unknown" "" "no EGD; CRC; diagnosis: colorectal symptoms" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150552" "00198" "00203405" "00640" "Unknown" "" "benign skin tumor (38);; no EGD; no CRC; diagnosis: colorectal symptoms; 30-40 polyps" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150553" "00198" "00203406" "00640" "Unknown" "" "5 duodenal adenomas; No duodenal cancer; fundic gland polyps; EGD 67y; No CRC; diagnosis: colorectal symptoms; 10-100 polyps" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150554" "00198" "00203407" "00640" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 58y; no CRC; diagnosis: colorectal symptoms; 10-20 polyps" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150556" "00198" "00203409" "00640" "Unknown" "" "polyps; no EGD; unknown if CRC; diagnosis: colorectal symptoms; mulitple polyps" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150557" "00198" "00203410" "00640" "Unknown" "" "no CRC; diagnosis: colorectal symptoms; polyps" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150558" "00198" "00203411" "00640" "Unknown" "" "polyps; some hyperlastic polyps with moderate dysplasia; no CRC; diagnosis: colorectal symptoms; many polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150559" "00198" "00203412" "00640" "Unknown" "" "no CRC; diagnosis: colorectal symptoms; mulitple polyps" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150560" "00198" "00203413" "00640" "Unknown" "" "no CRC; diagnosis: colorectal symptoms; 30 polyps" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150561" "05489" "00203414" "00640" "Unknown" "" "multiple hyperpl polyps, mult adenoma; 58/3xy-CRC; diagnosis: colorectal symptoms; mulitple polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150562" "05489" "00203415" "00640" "Unknown" "" "49y-CRC; diagnosis: colorectal symptoms; >100 polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150563" "00198" "00203416" "00640" "Unknown" "" "diagnosis: colorectal symptoms; 40-50 polyps; adenomas rightsided" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150564" "00198" "00203417" "00640" "Unknown" "" "polyps; som KRAS in tumor; 47y-CRC; diagnosis: colorectal symptoms" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150565" "00198" "00203418" "00640" "Unknown" "" "polyps; tub and serrated adenoma; no CRC; diagnosis: colorectal symptoms; 27 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150566" "00314" "00203419" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150567" "00314" "00203420" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150568" "00314" "00203421" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150569" "00314" "00203422" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150570" "00314" "00203423" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150571" "00314" "00203424" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150572" "00314" "00203425" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150573" "00314" "00203426" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150574" "00314" "00203427" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150575" "00314" "00203428" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150576" "00091" "00203429" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD; 50y-CRC; mulitple polyps" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150577" "00198" "00203430" "00100" "Unknown" "" "polyps; melanoma (59); no duodenal cancer; EGD; no CRC" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150578" "00091" "00203431" "00100" "Familial, autosomal recessive" "" "No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 37y; 29y-CRC Sigmoid; Descendens; mulitple polyps; adenomas irregular" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150579" "00091" "00203432" "00100" "Unknown" "" "lipoma (30), 2 other benign tumors (33), dermoid cyst (33), hepatic cysts; 1 duodenal adenoma, No duodenal cancer, No gastric polyps; EGD 36y; 33y-CRC Rectum; 250 polyps" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150580" "00198" "00203433" "00100" "Unknown" "" "polyps; lipoma; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 45y; no CRC; 50 polyps; adenomas mainly proximal" "" "31y-33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150581" "00198" "00203434" "00100" "Unknown" "" "polyps; single case; no CRC; >100 polyps; adenomas mainly proximal" "" "68y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150582" "00091" "00203435" "00100" "Unknown" "" "single case; 47y-CRC Rectum; >100 polyps; adenomas diffuse" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150583" "00091" "00203436" "00100" "Unknown" "" "recessive inheritance; 72y-CRC; hundreds polyps" "" "72y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150584" "00091" "00203437" "00100" "Unknown" "" "recessive inheritance; 71y-Descendens; 20 polyps; adenomas distal" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150585" "00198" "00203438" "00100" "Unknown" "" "benign skin tumor (15), maxillary cysts (21); single case; 1 duodenal adenoma, No duodenal cancer, No gastric polyps; EGD 41y; no CRC; >50; >100 polyps at 37y; adenomas mainly proximal" "" "25y-29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150586" "00198" "00203439" "00100" "Unknown" "" "benign skin tumor (50), spinalioma (60); single case; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 49y; no CRC; 20-50 polyps at 49 y; adenomas diffuse" "" "34y-37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150587" "00091" "00203440" "00100" "Unknown" "" "few duodenal polyps; No duodenal cancer; No gastric polyps; EGD 44y; 44y-CRC; 500-1000 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150588" "00091" "00203441" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD; 49y-CRC; >100 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150589" "00198" "00203442" "00100" "Unknown" "" "polyps; lipoma (54), ovarian cancer (56), benign skin tumor (56); recessive inheritance; No duodenal polyps, No duodenal cancer, 1 gastric polyp; EGD 49y; no CRC; 100-500 polyps; adenomas diffuse" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150590" "00091" "00203443" "00100" "Unknown" "" "lipoma (37), hepatic cysts (48); recessive inheritance; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 45y; 46y-CRC; 100 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150591" "00091" "00203444" "00100" "Unknown" "" "recessive inheritance; brother 30 to 40 adenomas; mother CRC; 44y-Ceacum, transversum; Multiple (in part dense) polyps; adenomas diffuse" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150592" "00091" "00203445" "00100" "Unknown" "" "bladder carcinoma (45);; duodenal polyps, No duodenal cancer, No gastric polyps; EGD 41y; 41y-CRC; 50-100 polyps" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150593" "00091" "00203446" "00100" "Unknown" "" "jaw-bone cysts (10);; 2 duodenal adenomas, No duodenal cancer, No gastric polyps; EGD 25y; 38y-CRC; >50 polyps" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150594" "00198" "00203447" "00100" "Unknown" "" "polyps; gastric cancer (38); died of gastric cancer (41); single case / apparent dominant inheritance; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 32y; no CRC; 100-200 polyps" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150595" "00091" "00203448" "00100" "Familial, autosomal recessive" "" "No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 60y; 60y-CRC; >100 polyps; adenomas diffuse" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150596" "00198" "00203449" "00100" "Unknown" "" "polyps; maxillary cysts (23), benign breast tumor (31); single case; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 31y; no CRC; 70 polyps; adenomas proximal and distal" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150597" "00091" "00203450" "00100" "Unknown" "" "single case; No duodenal polyps, No duodenal cancer, No gastric polyps; 52y-CRC; 100-500 polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150598" "00091" "00203451" "00100" "Familial, autosomal recessive" "" "3 affected siblings; No duodenal polyps, No duodenal cancer, 1 gastric polyp; EGD 46y; 46y-Caecum; 50 polyps; adenomas proximal and distal" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150599" "00198" "00203452" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 24y; no CRC; >50 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150600" "00198" "00203453" "00100" "Unknown" "" "polyps; no EGD; no CRC; mulitple polyps" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150601" "00091" "00203454" "00100" "Unknown" "" "died of CRC (43); no EGD; 43y-CRC; mulitple polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150602" "00198" "00203455" "00100" "Unknown" "" "polyps; esophagic cancer (46); died (52); Single case; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 46y; no CRC; 30-40 polyps" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150603" "00198" "00203456" "00100" "Unknown" "" "polyps; recessive inheritance; 2 affected brothers (CRC 34 and 54 y); 30 polyps; adenomas proximal and distal" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150604" "00091" "00203457" "00100" "Unknown" "" "single case; No duodenal polyps, No duodenal cancer, No gastric polyps; 49y-CRC rectum; ascendens; mulitple polyps; adenomas mainly proximal" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150605" "00091" "00203458" "00100" "Unknown" "" "hepatic cysts (47); family history unknown; 1 duodenal adenoma, No duodenal cancer, few fundic gland polyps; EGD 47y; 47y-CRC transversum; 150 polyps" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150606" "00198" "00203459" "00100" "Unknown" "" "polyps; jaw-bone cysts (14); single case; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 40y; no CRC; 50-100 polyps; adenomas mainly proximal" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150607" "00091" "00203460" "00100" "Unknown" "" "single case; No duodenal polyps, No duodenal cancer, No gastric polyps; 57y-CRC Sigmoid; Descendens; 5 polyps; adenomas mainly distal" "" "55y-57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150608" "00198" "00203461" "00100" "Familial, autosomal recessive" "" "polyps; 2 sisters CRC (44 and 63 y); no EGD; No CRC; >40; 20-50 polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150609" "00198" "00203462" "00100" "Familial, autosomal recessive" "" "No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 39y; no CRC; 30 polyps; adenomas mainly proximal" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150610" "00198" "00203463" "00100" "Unknown" "" "breast cancer (56); single case; 4 duodenal polyps, No duodenal cancer, No gastric polyps; EGD 56y; no CRC; 100-500 polyps; adenomas proximal and distal" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150611" "00091" "00203464" "00100" "Unknown" "" "Father and cousin affected?; 54y-Descendens" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150612" "00198" "00203465" "00100" "Familial, autosomal recessive" "" "affected brother; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 37y; No CRC; >100 polyps; adenomas diffuse" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150613" "00198" "00203466" "00100" "Unknown" "" "polyps; 1 duodenal adenoma; No duodenal cancer; No gastric polyps; EGD 40y; No CRC; mulitple polyps" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150614" "00198" "00203467" "00100" "Unknown" "" "polyps; adenoma small bowel (49); recessive inheritance; affected sister, uncle CRC 50 y; 1 duodenal adenoma, No duodenal cancer, 3 gastric adenomas; EGD 35y; No CRC; mulitple polyps" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150615" "00091" "00203468" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD; 31y-CRC; 40 polyps" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150616" "00091" "00203469" "00100" "Unknown" "" "lipoma (65); recessive inheritance; affected brother; more than 15 duodenal adenomas, No duodenal cancer, No gastric polyps; EGD 60y; 38y-Caecum; 100-500 polyps; adenomas mainly proximal" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150617" "00091" "00203470" "00100" "Unknown" "" "recessive inheritance; Affected sister (5 adenomas, CRC 49 y); no CRC; 50 polyps; adenomas mainly proximal" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150618" "00198" "00203471" "00100" "Unknown" "" "polyps; single case; 3 duodenal adenomas, No duodenal cancer, No gastric polyps; no CRC; 50-100 polyps; adenomas diffuse" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150619" "00091" "00203472" "00100" "Unknown" "" "benign skin tumor (15); died of CRC (51); family history unknown; many duodenal adenomas, No duodenal cancer, No gastric polyps; EGD 48y; 48y-Caecum; sigmoid; 36 polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150620" "00198" "00203473" "00100" "Familial, autosomal recessive" "" "polyps and/or CRC" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150621" "00091" "00203474" "00100" "Unknown" "" "Sister and father CRC; 51y-CRC Rectum; 40 polyps; adenomas diffuse" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150622" "00198" "00203475" "00100" "Familial, autosomal recessive" "" "Brother CRC 47 y; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 54y; no CRC; 21-50 polyps; adenomas proximal and distal" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150623" "00091" "00203476" "00100" "Unknown" "" "no EGD; 43y-CRC Rectum; 21-50 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150624" "00198" "00203477" "00100" "Unknown" "" "polyps; Single case; no CRC; Some tiny polyps 30y; 50-100 52y; adenomas mainly proximal" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150625" "00091" "00203478" "00100" "Familial, autosomal recessive" "" "No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 54y; 54y-CRC Rectum; mulitple polyps" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150626" "00091" "00203479" "00100" "Unknown" "" "Single case; 57y-CRC Rectum; >100 polyps; adenomas diffuse" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150627" "00198" "00203480" "00100" "Unknown" "" "polyps and/or CRC" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150628" "00091" "00203481" "00100" "Unknown" "" "Single case; No duodenal polyps, No duodenal cancer, No gastric polyps; 48y-caecum; 500-1000 polyps; adenomas mainly proximal" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150629" "00091" "00203482" "00100" "Unknown" "" "benign skin tumor (36), benign endometrial tumor (48); affected son; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 50y; 42y-CRC Rectum; multiple polyps; adenomas mainly proximal" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150630" "00198" "00203483" "00100" "Unknown" "" "affected mother; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 28y; No CRC; 50-100 polyps; adenomas diffuse" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150631" "00198" "00203484" "00100" "Unknown" "" "polyps; family history unknown; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 55y; no CRC; 50-100 polyps; adenomas mainly proximal" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150632" "00198" "00203485" "00100" "Unknown" "" "affected father; no EGD; No CRC; 50-100 polyps; adenomas mainly proximal" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150633" "00091" "00203486" "00100" "Unknown" "" "hepatic cysts (70); affected daughter; no EGD; 64y-CRC; >60 polyps" "" "61y-64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150634" "00198" "00203487" "00100" "Unknown" "" "affected brother; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 25y; No CRC; 50-100 polyps" "" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150635" "00198" "00203488" "00100" "Unknown" "" "polyps; Single case; no CRC; numerous polyps; adenomas proximal and distal" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150636" "00091" "00203489" "00100" "Unknown" "" "b-cell lymphoma (46); died of CRC (55); family history unknown; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 54y; 54y-CRC; >100 polyps" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150637" "00198" "00203490" "00100" "Unknown" "" "polyps; duodenal adenomas; No duodenal cancer; 6 fundic gland polyps; EGD 44y; no CRC; 50-70 polyps; adenomas diffuse" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150638" "00091" "00203491" "00100" "Unknown" "" "basalioma (48, 51, 53);; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 52y; 43y-CRC; 100 polyps" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150639" "00091" "00203492" "00100" "Unknown" "" "gangliocystoma (52); 2 siblings CRC; no EGD; 68y-Ascendens; 500-1000 polyps" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150640" "00091" "00203493" "00100" "Unknown" "" "died of CRC (68); no EGD; 66y-CRC" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150641" "00091" "00203494" "00100" "Unknown" "" "died of CRC (63); EGD?; 63y-CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150642" "00091" "00203495" "00100" "Unknown" "" "benign breast tumor (59); unknown family history; 2 duodenal adenomas, No duodenal cancer, No gastric polyps; EGD 51y; 30 or 57y-CRC; 6-10 polyps" "" "30y-57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150643" "00091" "00203496" "00100" "Unknown" "" "father CRC 58 y; No duodenal polyps, No duodenal cancer, fundic gland polyp; EGD 38y; 38y-caecum; >100 polyps; adenomas diffuse" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150644" "00198" "00203497" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 36y; no CRC; 80 polyps; adenomas diffuse" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150645" "00198" "00203498" "00100" "Unknown" "" "benign skin tumor (36);; No duodenal polyps or cancer, 1 gastric adenoma, 2 fundic gland polyps; EGD 40y; no CRC; <100 polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150646" "00091" "00203499" "00100" "Unknown" "" "sebaceous gland epithelioma (51); recessive inheritance; affected brother; No duodenal polyps, No duodenal cancer, No gastric polyps; 47y-Ascendens; below 100; 1 at 35y; over 100 at 47y polyps; adenomas mainly proximal" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150647" "00091" "00203500" "00100" "Unknown" "" "family history unknown; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 61y; 37y-CRC Rectum; >50 polyps; adenomas diffuse" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150648" "00091" "00203501" "00100" "Unknown" "" "sebaceous gland adenoma (47), other benign tumors (48); Father CRC 60 y; No duodenal polyps, No duodenal cancer, No gastric polyps; 52y-CRC; 70 polyps; adenomas proximal" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150649" "00091" "00203502" "00100" "Unknown" "" "kidney and hepatic tumor (64); single case; no EGD; 63y-Caecum; Ascendens; >50 polyps; adenomas proximal" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150650" "00198" "00203503" "00100" "Unknown" "" "affected brother and father; no EGD; No CRC; 6-10 or 20-30 polyps; adenomas diffuse" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150651" "00198" "00203504" "00100" "Unknown" "" "polyps; pancoast tumor (51);; No duodenal polyps, No duodenal cancer, No gastric polyps; no CRC; >150 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150652" "00091" "00203505" "00100" "Unknown" "" "family history unknown; No duodenal polyps, No duodenal cancer, fundic gland polyp; EGD 47y; 48y-Ascendens; Rectum; 100-500 polyps" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150653" "00091" "00203506" "00100" "Unknown" "" "Single case; No duodenal polyps, No duodenal cancer, No gastric polyps; 49y-Ascendens; 50-100 polyps; adenomas proximal" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150654" "00198" "00203507" "00100" "Unknown" "" "polyps; Single case; 2 duodenal polyps, No duodenal cancer, No gastric polyps; no CRC; <50; >50 polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150655" "00198" "00203508" "00100" "Familial, autosomal recessive" "" "polyps; no EGD; no CRC; 5 at 39y; 20 at 42y; 30 polyps; adenomas proximal" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150656" "00198" "00203509" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 51y; no CRC; many polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150657" "00091" "00203510" "00100" "Unknown" "" "thyroid cancer (38), breast cancer (45), gastric cancer (48); died of CRC (52); family history unknown; No duodenal polyps, No duodenal cancer, No gastric polyps; 45y-CRC Rectum; multiple; 50 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150658" "00198" "00203511" "00100" "Unknown" "" "polyps; lipoma (33); recessive inheritance; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 32y; no CRC; 75 polyps; adenomas diffuse" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150659" "00198" "00203512" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 37y; no CRC; >25 polyps" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150660" "00198" "00203513" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 36y; no CRC; 50-100 polyps" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150661" "00091" "00203514" "00100" "Unknown" "" "affected sister; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 69y; 66y-CRC; >200 polyps" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150662" "00198" "00203515" "00100" "Unknown" "" "polyps; endometrial carcinoma (54), benign skin tumor;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 35y; no CRC; few polyps" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150663" "00091" "00203516" "00100" "Unknown" "" "multiple duodenal adenomas; No duodenal cancer; No gastric polyps; EGD 30y; 30y-CRC; mulitple polyps" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150664" "00198" "00203517" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 41y; no CRC; 50-100 polyps" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150665" "00091" "00203518" "00100" "Unknown" "" "breast cancer (49);; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 49y; 48y-CRC; 51 polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150666" "00091" "00203519" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 45y; 53y-CRC; <40 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150667" "00198" "00203520" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 37y; no CRC; mulitple polyps" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150668" "00091" "00203521" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 37y; 37y-CRC; mulitple polyps" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150669" "00091" "00203522" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 44y; 43y-CRC; 60-70 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150670" "00091" "00203523" "00100" "Unknown" "" "no EGD; 53y-CRC; >100 polyps" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150671" "00198" "00203524" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 55y; no CRC; 50-100 polyps" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150672" "00091" "00203525" "00100" "Unknown" "" "lipoma; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 50y; 44y-CRC; numerous polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150673" "00198" "00203526" "00100" "Unknown" "" "polyps; endometrial carcinoma (47);; EGD?; no CRC; <5 polyps" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150674" "00091" "00203527" "00100" "Unknown" "" "CRC; cancer, ovarian; endometrial tumor, benign;b enign endometrial tumor (32), ovarian cancer (45); no EGD; 33y-CRC" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150675" "05154" "00203528" "00100" "Unknown" "" "benign skin tumor (25);; no EGD; no CRC" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150676" "00091" "00203529" "00100" "Unknown" "" "testical teratoma (28);; 49y-CRC; some polyps" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150677" "00091" "00203530" "00100" "Unknown" "" "benign endometrial tumor (48);; no EGD; 44y-CRC; 26 polyps" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150678" "00091" "00203531" "00100" "Unknown" "" "breast cancer (60, 68), spinalioma (68), benign skin tumor; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 69y; 45y-CRC; 100-500 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150679" "00198" "00203532" "00100" "Unknown" "" "polyps; no EGD; no CRC; 50-60 polyps" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150680" "00091" "00203533" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 31y; 31y-CRC; 50-60 polyps" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150681" "00198" "00203534" "00100" "Unknown" "" "duodenal polyps; gastric polyps; hyperplastic duodenal polyps, No duodenal cancer, Gastric polyps; EGD 50y; 64y-CRC" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150682" "00198" "00203535" "00100" "Unknown" "" "No duodenal polyps; No duodenal cancer; No gastric polyps; EGD 40y; no CRC; mulitple polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150683" "00314" "00203536" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150684" "00314" "00203537" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150685" "00314" "00203538" "00100" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150686" "00091" "00203539" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150687" "00091" "00203540" "02939" "Unknown" "" "more affected carriers in family" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150688" "00091" "00203541" "02939" "Unknown" "" "more affected carriers in family" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150689" "00198" "00203542" "02939" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150690" "00091" "00203543" "02939" "Unknown" "" "sebaceous adenomas on skin; total colectomy; 63y-CRC; 50 polyps; adenomas entire colon" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150691" "00091" "00203544" "02939" "Unknown" "" "50y-CRC; 20 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150692" "00198" "00203545" "02939" "Unknown" "" "appendiceal carcinoid; normal duodenum; no desmoids; 40s-total colectomy; appendix (carcinoid); multiple; 1 serrated polyps; adenomas throughout colon" "" "40y-50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150693" "00198" "00203546" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150694" "00198" "00203547" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150695" "00198" "00203548" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150696" "00198" "00203549" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150697" "00198" "00203550" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150698" "00198" "00203551" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150699" "00198" "00203552" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150700" "00198" "00203553" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150701" "00198" "00203554" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150702" "00198" "00203555" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150703" "00198" "00203556" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150704" "00198" "00203557" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150705" "00198" "00203558" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150706" "00198" "00203559" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150707" "00198" "00203560" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150708" "00198" "00203561" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150709" "00198" "00203562" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150710" "00198" "00203563" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150711" "00198" "00203564" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150712" "00198" "00203565" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150713" "00198" "00203566" "01073" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150714" "00198" "00203567" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150715" "00198" "00203568" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150716" "00198" "00203569" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150717" "00198" "00203570" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150718" "00198" "00203571" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150719" "00198" "00203572" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150720" "00198" "00203573" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150721" "00198" "00203574" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150722" "00198" "00203575" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150723" "00198" "00203576" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150724" "00198" "00203577" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150725" "00198" "00203578" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150726" "00198" "00203579" "01053" "Unknown" "" "polyps and/or CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150727" "00091" "00203580" "02939" "Unknown" "" "CRC resection; 56y-CRC; diagnosis: colorectal symptoms; 36 polyps; adenomas throughout colon" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150728" "00198" "00203581" "01072" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150729" "00198" "00203582" "01072" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150730" "00198" "00203583" "01066" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150731" "00091" "00203584" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150732" "00091" "00203585" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150733" "00091" "00203586" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150734" "00198" "00203587" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150735" "00091" "00203588" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150736" "00198" "00203589" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150737" "00091" "00203590" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150739" "00198" "00203592" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150741" "00198" "00203594" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150743" "00198" "00203596" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150745" "00198" "00203598" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150747" "00198" "00203600" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150749" "00198" "00203602" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150751" "00198" "00203604" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150753" "00198" "00203606" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150755" "00198" "00203608" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150757" "00198" "00203610" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150760" "00198" "00203613" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150761" "00198" "00203614" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150762" "00198" "00203615" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150764" "00198" "00203617" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150765" "00198" "00203618" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150766" "00198" "00203619" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150767" "00198" "00203620" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150768" "00198" "00203621" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150769" "00198" "00203622" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150770" "00198" "00203623" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150771" "00198" "00203624" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150772" "00198" "00203625" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150773" "00091" "00203626" "02939" "Unknown" "" "60y-colon resection; 60y-CRC sigmoid; colorectal phenotype attennuated; <100 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150774" "00198" "00203627" "02939" "Unknown" "" "carcinoma; hepatocellular carcinoma; type II diabetes mellitus. No evidence of chronic liver disease. family history unremarkable for liver disease.; no CRC; diagnosis: screening; no polyps" "" "74y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150775" "05093" "00203628" "02939" "Unknown" "" "cholangiocarcinoma, inflammatory bowel disease; no evidence for primary sclerosing cholangitis; 23y (for IBD) otal colectomy; no CRC; no polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150776" "05093" "00203629" "02939" "Unknown" "" "cholangiocarcinoma; no CRC; no polyps" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150777" "05093" "00203630" "02939" "Unknown" "" "cholangiocarcinoma; no CRC; no polyps" "" "73y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150778" "00198" "00203631" "02939" "Unknown" "" "Affected brother; father few polyps; mother unaffected; 4 unaffected heterozygous c.536A>G siblings from parents; ~60y; gastric cancer, lung cancer, pancreatic cancer among not tested relatives; no CRC; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 58 polyps; adenomas mainly right" "" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150779" "00198" "00203632" "02939" "Unknown" "" "Affected sister; father few polyps; mother unaffected; 4 unaffected heterozygous c.536A>G siblings from parents; ~60y; gastric cancer, lung cancer, pancreatic cancer among not tested relatives; no CRC; diagnosis: screening; colorectal phenotype attennuated; 63 polyps" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150780" "00198" "00203633" "02939" "Unknown" "" "polyps; See remark relatives; no CRC; diagnosis: screening; colorectal phenotype attennuated; 1 polyp at 61y; 2 polyps at 67y" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150781" "00198" "00203634" "02939" "Unknown" "" "See remark relatives; no CRC; diagnosis: screening; colorectal phenotype attennuated; no polyps" "" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150782" "00318" "00203635" "02939" "Unknown" "" "breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150783" "00318" "00203636" "02939" "Unknown" "" "breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150784" "00198" "00203637" "02939" "Unknown" "" "no tumors" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150785" "00198" "00203638" "02939" "Unknown" "" "no tumors" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150786" "00198" "00203639" "02939" "Unknown" "" "no CRC; colorectal phenotype attennuated; 62 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150787" "00091" "00203640" "02939" "Unknown" "" "CRC cecum; colorectal phenotype attennuated; <100 microscopic polyps" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150788" "00091" "00203641" "02939" "Unknown" "" "CRC intramucosal; colorectal phenotype attennuated; 40 polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150789" "00198" "00203642" "02939" "Unknown" "" "no CRC; colorectal phenotype attennuated; 50 polyps" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150790" "00198" "00203643" "02939" "Unknown" "" "no CRC; colorectal phenotype classical; >100 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150791" "00091" "00203644" "02939" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150792" "00198" "00203645" "02939" "Unknown" "" "CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150793" "00198" "00203646" "02939" "Unknown" "" "polyps; Sister died 36y (CR, multiple adenomas). Brother 1 hyperplastic polyp 46y. One daughter 5 rectal juvenile polyps (MSS) 26y. Other daughter rhabdomyosarcoma 7y; hyperplastic polyps and adenomas; no CRC; >150 polyps; adenomas throughout colon" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150794" "00091" "00203647" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150795" "00091" "00203648" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150796" "00091" "00203649" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150797" "00091" "00203650" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150798" "00198" "00203651" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150799" "00198" "00203652" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150800" "00091" "00203653" "02939" "Unknown" "" "Stage III/III; Grade Low/Low; Mucin No/Yes; Intra epithelial lymphocytes Yes/Yes; p53 IHC Neg/Pos; 3 sibs heterozygous, unaffected; 3 sibs compound heterozygous: all polyps, 1 melanoma; 50/50y-Caecum; Rectum; >100 polyps; adenomas Caecal carpet" "" "50y" "" "" "MSI; MSS" "" "" "" "" "" "" "" "" "" "" "0000150801" "00091" "00203654" "02939" "Unknown" "" "age at testing 60; Stage III; Grade Low; Mucin No; Intra epithelial lymphocytes Yes; p53 IHC Neg; 7 tubular adenomas, one hyperplastic polyp; Caecum; 8 polyps" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150802" "00091" "00203655" "02939" "Unknown" "" "age at testing 77; Stage II; Grade Low; Mucin No; Intra epithelial lymphocytes No; p53 IHC; Caecal; no polyps" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000150803" "00091" "00203656" "02939" "Unknown" "" "age at testing 88; Stage II; Grade Low; Mucin No; Intra epithelial lymphocytes Yes; p53 IHC Neg; Ascending colon" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150804" "00091" "00203657" "02939" "Unknown" "" "age at testing 76; Stage II; Grade High; Mucin Yes; Intra epithelial lymphocytes Yes; p53 IHC Neg; Descending colon; no polyps" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000150805" "00091" "00203658" "02939" "Unknown" "" "age at testing 72; Stage I; Grade High; Mucin No; Intra epithelial lymphocytes Yes; p53 IHC; Caecum; no polyps" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000150806" "00091" "00203659" "02939" "Unknown" "" "age at testing 44; Stage III; Grade Low; Mucin No; Intra epithelial lymphocytes No; p53 IHC Neg; CRC Rectum; no polyps" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150807" "00091" "00203660" "02939" "Unknown" "" "age at testing 81; Stage II; Grade Low; Mucin No; Intra epithelial lymphocytes No; p53 IHC Neg; Caecum; no polyps" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150808" "00091" "00203661" "02939" "Unknown" "" "age at testing 70; Stage II; Grade Low; Mucin Yes; Intra epithelial lymphocytes Yes; p53 IHC; CRC Transverse colon; no polyps" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000150809" "00091" "00203662" "02939" "Unknown" "" "age at testing 88; Stage II; Grade Low; Mucin No; Intra epithelial lymphocytes Yes; p53 IHC Neg; Caecum; polyps" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000150810" "00091" "00203663" "02939" "Unknown" "" "age at testing 64; Stage IV; Grade Low; Mucin No; Intra epithelial lymphocytes No; p53 IHC; Ascending colon; no polyps" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150811" "00091" "00203664" "02939" "Unknown" "" "age at testing 74; Stage III; Grade Low; Mucin No; Intra epithelial lymphocytes No; p53 IHC Pos; CRC Rectum" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150812" "00091" "00203665" "02939" "Unknown" "" "age at testing 65; Stage II; Grade Low; Mucin No; Intra epithelial lymphocytes No; p53 IHC Neg; CRC Sigmoid colon; no polyps" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150813" "00198" "00203666" "02939" "Unknown" "" "age at testing 69" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150814" "00198" "00203667" "02939" "Unknown" "" "age at testing 54" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150815" "00198" "00203668" "02939" "Unknown" "" "age at testing 62" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150816" "00198" "00203669" "02939" "Unknown" "" "age at testing 31" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150817" "00198" "00203670" "02939" "Unknown" "" "age at testing 58" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150818" "00091" "00203671" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150819" "00091" "00203672" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150820" "00091" "00203673" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150821" "00091" "00203674" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150822" "00091" "00203675" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150823" "00091" "00203676" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150824" "00091" "00203677" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150825" "00091" "00203678" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150826" "00315" "00203679" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150827" "00315" "00203680" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150828" "00198" "00203681" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150829" "00198" "00203682" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150830" "00315" "00203683" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150831" "00198" "00203684" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150832" "00091" "00203685" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150833" "00198" "00203686" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150834" "00198" "00203687" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150835" "00091" "00203688" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150836" "00198" "00203689" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150837" "00091" "00203690" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150838" "00198" "00203691" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150839" "00091" "00203692" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150840" "00198" "00203693" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150841" "00091" "00203694" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150842" "00091" "00203695" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150843" "00091" "00203696" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150844" "00198" "00203697" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150845" "00198" "00203698" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150846" "00091" "00203699" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150847" "00091" "00203700" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150848" "00198" "00203701" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150849" "00198" "00203702" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150850" "00091" "00203703" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150851" "00091" "00203704" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150852" "00198" "00203705" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150853" "00198" "00203706" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150854" "00091" "00203707" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150855" "00091" "00203708" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150856" "00198" "00203709" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150857" "00198" "00203710" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150858" "00091" "00203711" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150859" "00198" "00203712" "02939" "Unknown" "" "carcinoma; hepatocellular carcinoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150860" "05497" "00203713" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150861" "05497" "00203714" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150862" "00198" "00203715" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150863" "05497" "00203716" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150864" "00198" "00203717" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150865" "00198" "00203718" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150866" "05497" "00203719" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150867" "00198" "00203720" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150868" "00198" "00203721" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150869" "05497" "00203722" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150870" "00198" "00203723" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150871" "00198" "00203724" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150872" "05497" "00203725" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150873" "00198" "00203726" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150874" "00091" "00203727" "02939" "Unknown" "" "28y-four adenocarcinomas colon; 20-30 polyps" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150875" "00198" "00203728" "02939" "Unknown" "" "polyps; severe Spigelman III adenomatosis; 20 polyps" "" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150876" "00198" "00203729" "02939" "Unknown" "" "5 polyps" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150877" "00198" "00203730" "02939" "Unknown" "" "polyps; 2 polyps" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150878" "00318" "00203731" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150879" "00318" "00203732" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150880" "00198" "00203733" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150881" "00198" "00203734" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150882" "00091" "00203735" "02939" "Unknown" "" "Negative family history; 73y-Ascending colon; polyposis; adenomas diffuse" "" "73y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150883" "05489" "00203736" "02939" "Unknown" "" "Negative family history; 58y-Ascending colon; 1 polyps" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150884" "00091" "00203737" "02939" "Unknown" "" "Negative family history; 71y-Descending colon; no polyps" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150885" "00091" "00203738" "02939" "Unknown" "" "Positive family history; 50y-CRC Rectum; no polyps" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150886" "00198" "00203739" "02939" "Unknown" "" "Negative family history, clear colon; no polyps" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150887" "00091" "00203740" "02939" "Unknown" "" "familial CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150888" "00091" "00203741" "02939" "Unknown" "" "familial CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150889" "00091" "00203742" "02939" "Unknown" "" "familial CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150890" "00091" "00203743" "02939" "Unknown" "" "familial CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150891" "00091" "00203744" "02939" "Unknown" "" "Sporadic CRC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150892" "00198" "00203745" "02939" "Unknown" "" "‘Hyper-normal’ control" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150893" "00091" "00203746" "02939" "Unknown" "" "negative family history; 50y (2x)y-CRC rectum; sigmoid; 64 polyps" "" "50y" "" "MSH6+" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150894" "00091" "00203747" "02939" "Unknown" "" "negative family history; 85y-CRC sigmoid" "" "85y" "" "MSH6+" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150895" "00091" "00203748" "02939" "Unknown" "" "sister ovarian cancer (71); 79y-CRC sigmoid" "" "79y" "" "MSH6+" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150896" "00091" "00203749" "02939" "Unknown" "" "CRC; cancer, endometrial; cancer, bladder; ACII neg; 58 (2x)y-CRC" "" "58y" "" "MLH1+;MSH2-;MSH6-" "bladder: H; CRC: H; Endometrium: L" "" "" "" "" "" "" "" "" "" "" "0000150897" "00091" "00203750" "02939" "Isolated (sporadic)" "" "ACII neg; 52/65y-CRC" "" "52y" "" "MLH1+;MSH2+;MSH6+" "MSI-L" "" "" "" "" "" "" "" "" "" "" "0000150898" "00091" "00203751" "02939" "Familial" "" "ACII neg; 47y-CRC" "" "47y" "" "MLH1+;MSH2+;MSH6+" "MSI-L" "" "" "" "" "" "" "" "" "" "" "0000150899" "00091" "00203752" "02939" "Familial" "" "ACII neg; 39y-CRC" "" "39y" "" "MLH1+;MSH2+;MSH6+" "MSI-L" "" "" "" "" "" "" "" "" "" "" "0000150900" "00423" "00203753" "02939" "Familial" "" "ACII neg; no CRC" "" "45y" "" "MLH1+;MSH2+;MSH6+" "MSI-H" "" "" "" "" "" "" "" "" "" "" "0000150901" "00091" "00203754" "02939" "Unknown" "" "CRC; cancer, ovarian; Beth pos; 55y-CRC" "" "55y" "" "MSH6-" "MSI-H" "" "" "" "" "" "" "" "" "" "" "0000150902" "00091" "00203755" "02939" "Unknown" "" "ACII pos; 51y-CRC rectum" "" "51y" "" "MLH1+;MSH2+;MSH6+" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150903" "00198" "00203756" "02939" "Unknown" "" "polyps; ACII or Beth pos; no CRC; 1 polyps" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150904" "00091" "00203757" "02939" "Unknown" "" "ACII or Beth pos; -36y-CRC" "" ">30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150905" "00091" "00203758" "02939" "Unknown" "" "Melanoma ~42; ACII or Beth pos; -46y-CRC; 3 polyps" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150906" "00198" "00203759" "02939" "Unknown" "" "polyps; Gastric cancer ~78; ACII or Beth pos; no CRC" "" ">70y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150907" "00198" "00203760" "02939" "Unknown" "" "polyps; ACII or Beth pos; no CRC" "" ">30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150908" "00091" "00203761" "02939" "Unknown" "" "ACII or Beth pos; -47y-CRC" "" ">40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150909" "00198" "00203762" "02939" "Unknown" "" "polyps; ACII or Beth pos; no CRC; 1 polyps" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150910" "00198" "00203763" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150911" "00198" "00203764" "01071" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150912" "00198" "00203765" "01071" "Unknown" "" "polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150913" "05489" "00203766" "01066" "Unknown" "" ">50 polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150914" "00198" "00203767" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150915" "00198" "00203768" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150916" "00198" "00203769" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150917" "00198" "00203770" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150918" "00198" "00203771" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150919" "00198" "00203772" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150920" "00198" "00203773" "00642" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150921" "00198" "00203774" "02939" "Isolated (sporadic)" "" "no CRC; mulitple polyps; adenomas diffuse" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150922" "00091" "00203775" "02939" "Familial, autosomal dominant" "" "normal duodenum; CRC Right; >1000 polyps; adenomas diffuse" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150923" "00091" "00203776" "02939" "Unknown" "" "Duodenal lesions; recessive inheritance; affected brother (AFAP at screening at age 52 y) homozygous; healthy sister heterozygous; Duodenal lesions; CRC Right; 100-1000 polyps; adenomas right" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150924" "00091" "00203777" "02939" "Unknown" "" "Recessive inheritance; affected sibling attenuated polyposis; normal duodenum; CRC Right; 20 polyps; adenomas diffuse" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150925" "00091" "00203778" "02939" "Isolated (sporadic)" "" "normal duodenum; CRC Right; 100-1000 polyps; adenomas right" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150926" "00091" "00203779" "02939" "Unknown" "" "Inheritance unavailable/unknown; normal duodenum; CRC Right; 40-50 polyps; adenomas diffuse" "" "74y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150927" "00091" "00203780" "02939" "Isolated (sporadic)" "" "normal duodenum; CRC Left; 20 polyps; adenomas right" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150928" "00198" "00203781" "02939" "Unknown" "" "polyps; Fundic gland polyps; dominant inheritance; normal duodenum, fundic gland polyps; no CRC; 120 polyps; adenomas right" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150929" "00091" "00203782" "02939" "Familial, autosomal dominant" "" "normal duodenum; CRC Left; 15 polyps; adenomas diffuse" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150930" "00091" "00203783" "02939" "Isolated (sporadic)" "" "normal duodenum; CRC 4x times, Left and Right; 20 polyps; adenomas diffuse" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150931" "00091" "00203784" "02939" "Familial, autosomal dominant" "" "normal duodenum; CRC Right; 5 polyps; adenomas right" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150932" "00198" "00203785" "02939" "Familial, autosomal dominant" "" "no CRC; 20 polyps; adenomas right and rectum" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150933" "00198" "00203786" "02939" "Unknown" "" "polyps; Recessive inheritance; normal duodenum; no CRC; 10 polyps; adenomas diffuse" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150934" "00198" "00203787" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150935" "00198" "00203788" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150936" "00198" "00203789" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150937" "00198" "00203790" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150938" "00198" "00203791" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150939" "00198" "00203792" "01076" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150940" "05489" "00203793" "01082" "Unknown" "" "AFAP; normal duodenum; no desmoids; no dental anomalies; no osteoma; no epidermoid cysts; 44y-proctocolectomy; 42/44y-CRC rectum and colon ascendens; diagnosis: colorectal symptoms; colorectal phenotype attennuated; <10 polyps; no CHRPE" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150941" "05489" "00203794" "01086" "Unknown" "" "AFAP; normal duodenum; no desmoids; no dental anomalies; no osteoma; no epidermoid cysts; 71y-ileorectal anastomosis; 71y-colon ascendens; diagnosis: colorectal symptoms; colorectal phenotype attennuated; >25 polyps at diagnosis; adenomas colon, rectum; no CHRPE" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150942" "00314" "00203795" "01086" "Unknown" "" "normal duodenum; colorectal phenotype attennuated; 40-50 polyps" "" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150943" "05489" "00203796" "01082" "Unknown" "" "AFAP; well differentiated adenocarcinoma; duodenal adenomas; no desmoids; no dental anomalies; no osteoma; no epidermoid cysts; 53y-proctocolectomy; 53y-colon descendens; colorectal phenotype attennuated; >10 polyps; no CHRPE" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150944" "05489" "00203797" "01082" "Unknown" "" "AFAP; 45y-total colectomy; 45y-CRC rectum; colorectal phenotype attennuated" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150945" "05489" "00203798" "01082" "Unknown" "" "AFAP; 32y-proctocolectomy; 32y-CRC sigma; colorectal phenotype attennuated; 14 polyps" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150946" "05489" "00203799" "01082" "Unknown" "" "AFAP; partial colectomy; 27y-ascendens; colorectal phenotype attennuated; <10 polyps" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150947" "05489" "00203800" "01082" "Unknown" "" "AFAP; 35y-partial colectomy; 35y-CRC rectum; colorectal phenotype attennuated; 35 polyps" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150948" "05489" "00203801" "01088" "Unknown" "" "AFAP; colorectal phenotype attennuated" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150949" "00198" "00203802" "00579" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150950" "00198" "00203803" "00579" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150951" "00198" "00203804" "00579" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150952" "00198" "00203805" "00579" "Unknown" "" "adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150953" "00314" "00203806" "01091" "Unknown" "" "19 polyps" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150954" "00314" "00203807" "01091" "Unknown" "" "41y-proctocolectomy; 20-30 polyps" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150955" "05487" "00203808" "01091" "Unknown" "" "polyposis; 38y-CRC rectum; 30 polyps" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150956" "00198" "00203809" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150957" "00198" "00203810" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150958" "00198" "00203811" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150959" "00198" "00203812" "00640" "Unknown" "" "CC criteria AI+; 80y-CRC" "" "" "" "MLH1+;MSH2+;MSH6+" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150960" "00091" "00203813" "00640" "Unknown" "" "CC criteria A+" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150961" "00091" "00203814" "00640" "Unknown" "" "CC criteria A+" "" "" "" "" "MSS" "" "" "" "" "" "" "" "" "" "" "0000150962" "00198" "00203815" "01091" "Unknown" "" "CC criteria A-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150963" "00314" "00203816" "00640" "Unknown" "" "colorectal phenotype attennuated" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150964" "00198" "00203817" "00579" "Unknown" "" "mulitple polyps" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150965" "00314" "00203818" "00579" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150971" "05489" "00203824" "00727" "Unknown" "" "cancer, colon / rectum (bowel)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150972" "00314" "00203825" "02886" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150973" "00314" "00203826" "00643" "Familial, autosomal recessive" "" "normal duodenum; no desmoids; no dental anomalies; no osteoma; no epidermoid cysts; CC criteria A-; 39y-semi-colectomy; no CRC; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 15 polyps; no CHRPE" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150974" "05489" "00203827" "01131" "Familial" "" "CC criteria A-; colectomy 41y; 41y-CRC retrosigmoid; diagnosis: colorectal symptoms; colorectal phenotype classical; 11 polyps" "" "41y" "" "normal" "normal" "" "" "" "" "" "" "" "" "" "" "0000150975" "00198" "00203828" "00642" "Familial" "" "adenoma;CRC;polyposis; diagnosis: colorectal symptoms; colorectal phenotype classical" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150976" "00198" "00203829" "01087" "Unknown" "" "colorectal phenotype attennuated; adenome" "" "68y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150979" "04280" "00203832" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150980" "04280" "00203833" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000150981" "04280" "00203834" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151002" "00198" "00203855" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000151107" "00198" "00203960" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000151173" "00091" "00204026" "02940" "Unknown" "" "Familial aggregation of CRC with one case <51 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151174" "00198" "00204027" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151175" "04280" "00204028" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151176" "04280" "00204029" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151177" "04280" "00204030" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151178" "04280" "00204031" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151179" "04280" "00204032" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151180" "04280" "00204033" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151181" "04280" "00204034" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151182" "04280" "00204035" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151183" "00198" "00204036" "02940" "Unknown" "" "One advanced adenoma or several adenomas (2-10) <61 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151184" "00198" "00204037" "02940" "Unknown" "" "One advanced adenoma or several adenomas (2-10) <61 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151185" "00198" "00204038" "02940" "Unknown" "" "One advanced adenoma or several adenomas (2-10) <61 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151186" "00091" "00204039" "02940" "Unknown" "" "CRC <41 years without suggestive familial history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151187" "00091" "00204040" "02940" "Unknown" "" "Familial aggregation of CRC with one case <51 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151188" "00091" "00204041" "02940" "Unknown" "" "Familial aggregation of CRC with one case <51 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151189" "00198" "00204042" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151190" "00198" "00204043" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151191" "04280" "00204044" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151192" "00198" "00204045" "02940" "Unknown" "" "One advanced adenoma or several adenomas (2-10) <61 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151193" "04280" "00204046" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151194" "04280" "00204047" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151195" "04280" "00204048" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151196" "04280" "00204049" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151197" "04280" "00204050" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151198" "04280" "00204051" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151199" "04280" "00204052" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151200" "04280" "00204053" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151201" "04280" "00204054" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151202" "04280" "00204055" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151203" "04280" "00204056" "02940" "Unknown" "" "Adenomatous polyposis (>10 adenomas)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151204" "00198" "00204057" "02940" "Unknown" "" "One advanced adenoma or several adenomas (2-10) <61 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151205" "00091" "00204058" "02940" "Unknown" "" "CRC <41 years without suggestive familial history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151206" "00091" "00204059" "02940" "Unknown" "" "CRC <41 years without suggestive familial history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151207" "00091" "00204060" "02940" "Unknown" "" "Familial aggregation of CRC with one case <51 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151208" "00091" "00204061" "02940" "Unknown" "" "Familial aggregation of CRC with one case <51 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151209" "00091" "00204062" "02940" "Unknown" "" "Familial aggregation of CRC with one case <51 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151210" "00091" "00204063" "02940" "Unknown" "" "Familial aggregation of CRC with one case <51 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151211" "00198" "00204064" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151212" "00198" "00204065" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151213" "00198" "00204066" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000151214" "00198" "00204067" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000151215" "00198" "00204068" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000151216" "00198" "00204069" "02940" "Unknown" "" "MMR-deficient tumours" "" "" "" "" "MSI" "" "" "" "" "" "" "" "" "" "" "0000151217" "00198" "00204070" "02940" "Unknown" "" "One advanced adenoma or several adenomas (2-10) <61 years" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151218" "05488" "00204071" "02940" "Unknown" "" "Serrated polyposis syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000151459" "00198" "00188635" "02181" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Attenuated polyposis" "0000155718" "00198" "00207946" "01164" "Unknown" "" "HP:0007378 (Neoplasm of the gastrointestinal tract); HP:0011024 (Abnormality of the gastrointestinal tract)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155719" "00198" "00207947" "01164" "Unknown" "" "HP:0030255 (Large intestinal polyposis); HP:0011024 (Abnormality of the gastrointestinal tract); HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156434" "00198" "00036295" "01164" "Unknown" "" "15 polyps since the 40th year of life" "" "" "" "" "" "" "" "" "" "" "" "" "" "polyps" "" "0000156435" "00198" "00036298" "01164" "Unknown" "" "Polyps (SSA), Colon-Ca" "" "" "" "" "" "" "" "" "" "" "" "" "" "polyposis" "" "0000156436" "00198" "00036299" "01164" "Familial" "" "suspected AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "AFAP?" "" "0000156437" "00198" "00036300" "01164" "Familial" "" "suspected AFAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "AFAP?" "" "0000156438" "00198" "00036301" "01164" "Unknown" "" "suspected FAP" "" "" "" "" "" "" "" "" "" "" "" "" "" "FAP" "" "0000185734" "00198" "00245898" "01164" "Unknown" "" "HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186485" "00198" "00246629" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma); HP:0000769 (Abnormality of the breast)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186486" "00198" "00246630" "01164" "Unknown" "" "HP:0100615 (Ovarian neoplasm), HP:0000119 (Abnormality of the genitourinary system), serous ovarian cancer at 61y; sister breast cancer at 56y; mother breast cancer at 80y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186488" "00198" "00246632" "01164" "Unknown" "" "HP:0100273 (Neoplasm of the colon)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186489" "00198" "00246636" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186490" "00198" "00246637" "01164" "Unknown" "" "HP:0005266 (Intestinal polyp), tubular adenoma in sigma; father colorectal cancer at 65y; grandfather colorectal cancer at 85y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186491" "00198" "00246638" "01164" "Unknown" "" "HP:0005227 (Adenomatous colonic polyposis)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186492" "00198" "00246639" "01164" "Unknown" "" "HP:0003003 (Colon cancer); HP:0100743 (Neoplasm of the rectum)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186493" "00198" "00246640" "01164" "Unknown" "" "HP:0200008 (Intestinal polyposis)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186494" "00198" "00246641" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma) right side at 47y/left side at 61y; grandmother ps. breast cancer at 35-40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186495" "00198" "00246643" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186496" "00198" "00246645" "01164" "Unknown" "" "HP:0006625 (Multifocal breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186497" "00198" "00246646" "01164" "Unknown" "" "HP:0009592 (Astrocytoma); HP:0006772 (Renal angiomyolipoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186498" "00198" "00246648" "01164" "Unknown" "" "HP:0000107 (Renal cyst); HP:0002896 (Neoplasm of the liver); HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186499" "00198" "00246650" "01164" "Unknown" "" "HP:0200008 (Intestinal polyposis)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186500" "00198" "00246652" "01164" "Unknown" "" "HP:0005266 (Intestinal polyp)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186501" "00198" "00246654" "01164" "Unknown" "" "HP:0100723 (Gastrointestinal stroma tumor)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186502" "00198" "00246655" "01164" "Unknown" "" "HP:0030412 (Ilial adenocarcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186526" "05093" "00246647" "01164" "Unknown" "" "positive family history regarding cancer; sister died of breast cancer, niece has pathogenic BRCA1 (patient not carrier of this variant), several other cancers in family" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186527" "05093" "00246651" "01164" "Unknown" "" "...; mother ovarian cancer at 39y; grandmother ovarian cancer under <50y; aunt ps breast cancer at 45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187402" "00198" "00248408" "01164" "Unknown" "" "HP:0002664 (Neoplasm); HP:0002861 (Melanoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187403" "00198" "00248409" "01164" "Unknown" "" "HP:0000769 (Abnormality of the breast); HP:0003003 (Colon cancer); HP:0011024 (Abnormality of the gastrointestinal tract); HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187404" "00198" "00248411" "01164" "Unknown" "" "HP:0012114 (Endometrial carcinoma); HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187405" "00198" "00248413" "01164" "Unknown" "" "HP:0011024 (Abnormality of the gastrointestinal tract); HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187406" "00198" "00248414" "01164" "Unknown" "" "HP:0007378 (Neoplasm of the gastrointestinal tract); HP:0005266 (Intestinal polyp)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187407" "00198" "00248416" "01164" "Unknown" "" "HP:0100743 (Neoplasm of the rectum)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187408" "00198" "00248417" "01164" "Unknown" "" "HP:0001067 (Neurofibromas); HP:0000957 (Cafe-au-lait spot)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187409" "00198" "00248418" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187410" "00198" "00248419" "01164" "Unknown" "" "HP:0011793 (Neoplasm by anatomical site); HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187411" "00198" "00248420" "01164" "Unknown" "" "HP:0200008 (Intestinal polyposis); HP:0007378 (Neoplasm of the gastrointestinal tract)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187412" "00198" "00248421" "01164" "Unknown" "" "HP:0008643 (Nephroblastomatosis); HP:0002667 (Nephroblastoma (Wilms tumor))" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187422" "00198" "00248431" "01164" "Unknown" "" "HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000200593" "00198" "00262112" "01164" "Unknown" "" "HP:0000131 (Uterine leiomyoma); HP:0100615 (Ovarian neoplasm); HP:0000138 (Ovarian cyst); HP:0003764 (Nevus)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201571" "00198" "00263132" "01164" "Unknown" "" "HP:0000119 (Abnormality of the genitourinary system); HP:0100615 (Ovarian neoplasm)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201572" "00198" "00263133" "01164" "Unknown" "" "HP:0000769 (Abnormality of the breast); HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201573" "00198" "00263135" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma); HP:0000769 (Abnormality of the breast)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201574" "00198" "00263136" "01164" "Unknown" "" "HP:0003003 (Colon cancer); HP:0011024 (Abnormality of the gastrointestinal tract)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201575" "00198" "00263137" "01164" "Unknown" "" "HP:0011024 (Abnormality of the gastrointestinal tract); HP:0200008 (Intestinal polyposis); HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201576" "00198" "00263139" "01164" "Unknown" "" "HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201577" "00198" "00263140" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201578" "00198" "00263141" "01164" "Unknown" "" "HP:0003003 (Colon cancer)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201579" "00198" "00263142" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201580" "00198" "00263143" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201803" "00198" "00263895" "01164" "Unknown" "" "Breast carcinoma (HP:0003002)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201895" "00198" "00264040" "01164" "Unknown" "" "Cafe-au-lait spot (HP:0000957); Fibroma (HP:0010614)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201897" "00198" "00264043" "01164" "Unknown" "" "Neoplasm of the gastrointestinal tract (HP:0007378)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201949" "00198" "00264107" "01164" "Unknown" "" "Renal angiomyolipoma (HP:0006772); Large intestinal polyposis (HP:0030255)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201951" "00198" "00264109" "01164" "Unknown" "" "Follicular thyroid carcinoma (HP:0006731)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000203951" "00198" "00266175" "01164" "Unknown" "" "Colon cancer (HP:0003003); Colorectal polyposis (HP:0200063); Breast carcinoma (HP:0003002)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000204209" "05489" "00266475" "02337" "Familial" "" "family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "colon cancer" "" "0000204215" "00318" "00266481" "02337" "Familial" "" "family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000204219" "00318" "00266485" "02337" "Familial" "" "family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000206964" "00198" "00269119" "01164" "Unknown" "" "Colon cancer (HP:0003003)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223365" "00683" "00295888" "03629" "Familial, autosomal dominant" "" "breast cancer (HP:0003002)" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "Hereditary breast cancer" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" "" "" "" "" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "" "" "" "" "0000239820" "05862" "00316073" "00006" "Unknown" "" "branchial defect, preauricular pit, deafness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239836" "05342" "00316089" "00006" "Unknown" "" "renal hypoplasia; branchial defect, deafness" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000239846" "05342" "00316099" "00006" "Unknown" "" "unilateral kidney agenesis; preauricular pit" "" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "" "0000239853" "05342" "00316106" "00006" "Unknown" "" "renal hypoplasia; branchial defect" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000239923" "05342" "00316176" "00006" "Unknown" "" "bilateral kidney agenesis; external ear anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "bilateral kidney agenesis" "" "0000239924" "05342" "00316177" "00006" "Unknown" "" "renal dysplasia; cysts; unilateral kidney agenesis; preauricular pit, ear tag" "" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "" "0000252828" "00198" "00335113" "00000" "Familial, autosomal recessive" "" "cataract; 0y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000259126" "04267" "00363779" "00000" "Unknown" "56y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000259127" "04267" "00363780" "00000" "Unknown" "30y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259128" "04267" "00363781" "00000" "Unknown" "56y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000259129" "04267" "00363782" "00000" "Unknown" "32y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000271363" "00681" "00376152" "00585" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "pancreatic ductal adenocarcinoma" "" "0000271366" "00681" "00376155" "00585" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "pancreatic ductal adenocarcinoma" "" "0000281560" "00639" "00202549" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281561" "00639" "00202551" "00640" "Unknown" "" "among cancerous tissues of 55 unrelated lungcancer patients" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281562" "00639" "00202552" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281563" "00639" "00202554" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281564" "00639" "00202555" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281565" "00639" "00202556" "00640" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281566" "00639" "00202746" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281567" "00639" "00202747" "02939" "Unknown" "" "among 47 lung cancer cell lines" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281568" "00639" "00202748" "02939" "Unknown" "" "among 47 lung cancer cell lines" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281569" "00639" "00202760" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281570" "00639" "00202764" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281571" "00639" "00202765" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281572" "00639" "00203591" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281573" "00639" "00203593" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281574" "00639" "00203595" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281575" "00639" "00203597" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281576" "00639" "00203599" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281577" "00639" "00203601" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281578" "00639" "00203603" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281579" "00639" "00203605" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281580" "00639" "00203607" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281581" "00639" "00203609" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281582" "00639" "00203611" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281583" "00639" "00203612" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281584" "00639" "00203616" "02939" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000299347" "05489" "00406898" "00006" "Unknown" "43y" "colon cancer (sigmoid), stage II); mismatch repair status proficient; no family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "colorectal cancer" "" "0000299348" "05489" "00406899" "00006" "Unknown" "64y" "colon cancer (hepatic flexure), stage IV); mismatch repair status proficient; no family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "colorectal cancer" "" "0000307518" "05489" "00415740" "03514" "Unknown" "42y" "Moderately differentiated adenocarcinoma of caecum and descending colon; Subtotal colectomy carried out;" "" "" "" "" "tumor MSI" "" "" "" "" "" "" "" "" "colon cancer" "MSI" "0000307520" "05489" "00415742" "03514" "Unknown" "" "family history Bethesda; Adenocarcinoma of rectum; Family had history of multiple polyps in the large intestine" "" "" "" "" "tumor MSS" "" "" "" "" "" "" "" "" "colon cancer" "family history" "0000321155" "04296" "00430273" "01082" "Familial, autosomal recessive" "" "Neuroendocrine tumor of appendix (ORPHA:100079)" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321157" "04296" "00430355" "01082" "Familial, autosomal dominant" "" "Gastrointestinal Stromal Tumor (HP:0100723)" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322132" "04296" "00430359" "01082" "Familial, autosomal dominant" "" "Adenocarcinoma of left ovary and carcinosarcoma of the right ovary (HP:0100615)" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323678" "04296" "00430363" "01082" "Familial, autosomal recessive" "" "Kidney cancer (HP:0009726); colon adenocarcinoma (HP:0003003); thyroid cancer (HP:0002890)" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323686" "04296" "00432989" "01082" "Familial, autosomal dominant" "" "Breast cancer (HP:0003002)" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323690" "04296" "00432993" "01082" "Familial, autosomal recessive" "" "Breast Cancer (HP:0003002)" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323697" "04296" "00432999" "01082" "Familial, autosomal dominant" "" "Breast cancer (HP:0003002)" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323698" "04296" "00433001" "01082" "Familial, autosomal dominant" "" "Breast cancer (HP:0003002)" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000332993" "05489" "00443710" "04599" "Unknown" "44" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000332994" "05489" "00443711" "04599" "Unknown" "64" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000332995" "05489" "00443712" "04599" "Unknown" "40" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000332996" "05489" "00443713" "04599" "Unknown" "45" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000334252" "00296" "00445001" "00006" "Familial, autosomal dominant" "" "congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000345818" "04296" "00457356" "04749" "Unknown" "" "Ovarian cancer 40y HGS" "" "" "" "" "" "" "" "" "" "" "" "" "" "MINAS" "" "0000345819" "04296" "00457357" "04749" "Unknown" "" "Tonsil SCC 49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "MINAS" "" "0000345825" "04296" "00457363" "04749" "Unknown" "" "Multiple colonic polyps (TA) 18y; Multiple fundic gland polyps 18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "MINAS" "" "0000345840" "04296" "00457378" "04749" "Unknown" "" "Breast IDC ER/PR+ Her2-" "" "" "" "" "" "" "" "" "" "" "" "" "" "MINAS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2143 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002932" "00003026" "2" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000003206" "00003287" "1" "00552" "00552" "2013-11-05 18:54:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000036365" "00036295" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036366" "00036296" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036367" "00036297" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036368" "00036298" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036369" "00036299" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036370" "00036300" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036371" "00036301" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000047989" "00047863" "1" "00727" "00727" "2015-08-28 17:10:56" "" "" "SEQ" "DNA" "" "" "0000107059" "00106589" "1" "02029" "02029" "2017-07-06 15:43:48" "00006" "2017-07-07 09:23:06" "SEQ-NG" "DNA" "" "fenner-team" "0000134095" "00133260" "1" "02282" "02282" "2017-11-14 18:18:40" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000134096" "00133261" "1" "02282" "02282" "2017-11-14 18:24:41" "" "" "MCA;MLPA;PCR;SEQ" "DNA" "Blood" "" "0000134097" "00133262" "1" "02282" "02282" "2017-11-14 18:32:03" "" "" "MCA;MLPA-ms;PCR;SEQ" "DNA" "Blood" "" "0000156456" "00155591" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156459" "00155594" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156461" "00155596" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156463" "00155598" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156465" "00155600" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156473" "00155608" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156474" "00155609" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156477" "00155612" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156478" "00155613" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156481" "00155616" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156484" "00155619" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156487" "00155622" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156492" "00155627" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156493" "00155628" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156496" "00155631" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156497" "00155632" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156500" "00155635" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156506" "00155641" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156509" "00155644" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156517" "00155652" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156519" "00155654" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156523" "00155658" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156525" "00155660" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156527" "00155662" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156531" "00155666" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156532" "00155667" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156533" "00155668" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156538" "00155673" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156539" "00155674" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156540" "00155675" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156544" "00155679" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156545" "00155680" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156554" "00155689" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156556" "00155691" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156563" "00155698" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156569" "00155704" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000156572" "00155707" "1" "01873" "00006" "2017-11-15 18:25:58" "" "" "SEQ" "DNA" "" "" "0000189604" "00188635" "1" "02181" "02181" "2017-02-23 14:38:55" "" "" "PCR;SEQ" "DNA" "" "screen data 2014-11-12" "0000201898" "00200928" "1" "00770" "00770" "2017-08-18 06:44:56" "" "" "SEQ" "DNA" "" "screen data 2017-01-31" "0000202874" "00201843" "1" "00770" "00770" "2018-03-23 21:41:37" "" "" "?" "DNA" "" "" "0000202898" "00201867" "1" "02181" "02181" "2018-03-27 09:32:10" "" "" "PCR;SEQ" "DNA" "" "screen data 2018-03-27" "0000203376" "00202345" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203377" "00202346" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203378" "00202347" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203379" "00202348" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203380" "00202349" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203381" "00202350" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203382" "00202351" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203383" "00202352" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203384" "00202353" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203385" "00202354" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203386" "00202355" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203387" "00202356" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203388" "00202357" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203389" "00202358" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203390" "00202359" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203391" "00202360" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203392" "00202361" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203393" "00202362" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203394" "00202363" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203395" "00202364" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203396" "00202365" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203397" "00202366" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203398" "00202367" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203399" "00202368" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203400" "00202369" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203401" "00202370" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203402" "00202371" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203403" "00202372" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203404" "00202373" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203405" "00202374" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203406" "00202375" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203407" "00202376" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203408" "00202377" "1" "02939" "02939" "2007-08-10 11:13:00" "02939" "2010-05-06 10:37:25" "PCRdig;SEQ" "DNA" "" "" "0000203409" "00202378" "1" "02939" "02939" "2007-08-10 11:13:00" "02939" "2010-05-06 10:38:45" "PCRdig;SEQ" "DNA" "" "" "0000203410" "00202379" "1" "02939" "02939" "2007-08-10 11:13:00" "02939" "2010-05-06 11:14:48" "PCRdig;SEQ" "DNA" "" "" "0000203411" "00202380" "1" "02939" "02939" "2007-08-10 11:13:00" "02939" "2010-05-06 12:39:33" "PCRdig;SEQ" "DNA" "" "" "0000203412" "00202381" "1" "02939" "02939" "2007-08-10 11:13:00" "02939" "2010-05-06 12:12:46" "PCRdig;SEQ" "DNA" "" "" "0000203413" "00202382" "1" "02939" "02939" "2007-08-07 15:41:00" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000203414" "00202383" "1" "02939" "02939" "2007-08-07 15:41:00" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000203415" "00202384" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000203416" "00202385" "1" "02939" "02939" "2007-08-07 15:41:00" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000203417" "00202386" "1" "02939" "02939" "2007-08-07 15:41:00" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000203418" "00202387" "1" "02939" "02939" "2007-08-07 15:41:00" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000203419" "00202388" "1" "02939" "02939" "2007-08-07 15:41:00" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000203420" "00202389" "1" "02939" "02939" "2007-08-07 15:41:00" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000203421" "00202390" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203422" "00202391" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203423" "00202392" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203424" "00202393" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203425" "00202394" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203426" "00202395" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203427" "00202396" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203428" "00202397" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203429" "00202398" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203430" "00202399" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203431" "00202400" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203432" "00202401" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203433" "00202402" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203434" "00202403" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203435" "00202404" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203436" "00202405" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203437" "00202406" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203438" "00202407" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203439" "00202408" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203440" "00202409" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203441" "00202410" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203442" "00202411" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203443" "00202412" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203444" "00202413" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203445" "00202414" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203446" "00202415" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203447" "00202416" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203448" "00202417" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203449" "00202418" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203450" "00202419" "1" "02939" 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"2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203459" "00202428" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203460" "00202429" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203461" "00202430" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203462" "00202431" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203463" "00202432" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203464" "00202433" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203465" "00202434" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203466" "00202435" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203467" "00202436" "1" "00645" "02939" "2007-08-07 15:41:00" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203468" "00202437" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203469" "00202438" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203470" "00202439" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203471" "00202440" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203472" "00202441" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203473" "00202442" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203474" "00202443" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203475" "00202444" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203476" "00202445" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203477" "00202446" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203478" "00202447" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203479" "00202448" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203480" "00202449" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203481" "00202450" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203482" "00202451" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-07-15 18:10:39" "SSCA;SEQ" "DNA" "" "" "0000203483" "00202452" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203484" "00202453" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203485" "00202454" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203486" "00202455" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203487" "00202456" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203488" "00202457" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203489" "00202458" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203490" "00202459" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203491" "00202460" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203492" "00202461" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203493" "00202462" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203494" "00202463" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203495" "00202464" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203496" "00202465" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203497" "00202466" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203498" "00202467" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203499" "00202468" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203500" "00202469" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203501" "00202470" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203502" "00202471" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203503" "00202472" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203504" "00202473" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203505" "00202474" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203506" "00202475" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203507" "00202476" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203508" "00202477" "1" "02939" "02939" "2007-08-07 15:41:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203509" "00202478" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203510" "00202479" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203511" "00202480" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203512" "00202481" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203513" "00202482" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203514" "00202483" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203515" "00202484" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203516" "00202485" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203517" "00202486" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203518" "00202487" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203519" "00202488" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203520" "00202489" "1" "02939" "02939" "2007-08-08 17:07:00" "02939" "2010-01-19 20:50:00" "DHPLC;SEQ" "DNA" "" "" "0000203521" "00202490" "1" "02939" "02939" "2007-08-13 14:25:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203522" "00202491" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 16:37:11" "SEQ" "DNA" "" "" "0000203523" "00202492" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203524" "00202493" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203525" "00202494" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203526" "00202495" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203527" "00202496" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203528" "00202497" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203529" "00202498" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203530" "00202499" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203531" "00202500" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203532" "00202501" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203533" "00202502" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203534" "00202503" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203535" "00202504" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203536" "00202505" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203537" "00202506" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203538" "00202507" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203539" "00202508" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203540" "00202509" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203541" "00202510" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203542" "00202511" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203543" "00202512" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203544" "00202513" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203545" "00202514" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203546" "00202515" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203547" "00202516" "1" "00640" "00006" "2008-02-08 17:17:00" "00006" "2013-06-06 14:21:30" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203548" "00202517" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203549" "00202518" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203550" "00202519" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203551" "00202520" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203552" "00202521" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203553" "00202522" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203554" "00202523" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203555" "00202524" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203556" "00202525" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203557" "00202526" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203558" "00202527" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203559" "00202528" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203560" "00202529" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203561" "00202530" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203562" "00202531" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203563" "00202532" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 22:37:38" "SEQ" "DNA" "" "" "0000203564" "00202533" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 21:45:00" "CSCE;DHPLC;SEQ" "DNA" "" "" "0000203565" "00202534" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ;SSCA" "DNA" "" "" "0000203566" "00202535" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 22:29:58" "SEQ" "DNA" "" "" "0000203568" "00202537" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203569" "00202538" "1" "00579" "00640" "2010-03-11 21:10:03" "02939" "2010-05-05 20:27:16" "SEQ;RT-PCR" "DNA;RNA" "leukocyte" "screen MUTYH gene (index)" "0000203570" "00202539" "1" "00100" "00640" "2008-02-08 17:17:00" "02939" "2010-04-08 12:00:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203571" "00202540" "1" "00100" "00006" "2008-02-08 17:17:00" "02939" "2010-04-08 12:00:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203572" "00202541" "1" "00100" "00640" "2008-02-08 17:17:00" "02939" "2010-04-08 12:00:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203573" "00202542" "1" "00100" "00640" "2008-02-08 17:17:00" "02939" "2010-04-08 12:00:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203574" "00202543" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 20:28:24" "DGGE;SEQ" "DNA" "leukocyte" "" "0000203575" "00202544" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 20:29:00" "DGGE;SEQ" "DNA" "leukocyte" "" "0000203576" "00202545" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "" "0000203577" "00202546" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "" "0000203578" "00202547" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203579" "00202548" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203580" "00202549" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203581" "00202550" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203582" "00202551" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203583" "00202552" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203584" "00202553" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ;SSCA" "DNA" "" "" "0000203585" "00202554" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "SSCA (coding, flanking)" "0000203586" "00202555" "1" "02939" "02939" "2008-02-08 17:17:00" "02939" "2010-03-03 15:50:00" "SSCA;SEQ" "DNA" "" "" "0000203587" "00202556" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203588" "00202557" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203589" "00202558" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 22:42:00" "SEQ" "DNA" "" "" "0000203590" "00202559" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 21:47:46" "SEQ" "DNA" "" "" "0000203591" "00202560" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203592" "00202561" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 16:54:14" "SEQ" "DNA" "" "" "0000203593" "00202562" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 21:49:38" "SEQ" "DNA" "" "" "0000203594" "00202563" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 20:22:07" "SEQ" "DNA" "" "" "0000203595" "00202564" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 20:20:47" "SEQ" "DNA" "" "" "0000203596" "00202565" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 22:38:42" "SEQ" "DNA" "" "" "0000203597" "00202566" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203600" "00202569" "1" "02939" "02939" "2008-02-08 17:17:00" "02939" "2010-03-03 15:50:00" "SEQ" "DNA" "" "" "0000203602" "00202571" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 16:31:44" "SEQ" "DNA" "" "" "0000203603" "00202572" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 16:33:23" "SEQ" "DNA" "" "" "0000203604" "00202573" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 16:38:38" "SEQ" "DNA" "" "" "0000203605" "00202574" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203606" "00202575" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203607" "00202576" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203608" "00202577" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203609" "00202578" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203610" "00202579" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203611" "00202580" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203612" "00202581" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203613" "00202582" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203614" "00202583" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203615" "00202584" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "RT-PCR;SEQ" "RNA" "" "" "0000203616" "00202585" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 16:02:00" "SEQ" "DNA" "" "" "0000203617" "00202586" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 16:01:27" "SEQ" "DNA" "" "" "0000203618" "00202587" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203619" "00202588" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203620" "00202589" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 20:16:08" "SEQ" "DNA" "" "" "0000203621" "00202590" "1" "02939" "02939" "2008-02-08 17:17:00" "02939" "2010-03-03 15:50:00" "SEQ" "DNA" "" "" "0000203622" "00202591" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203623" "00202592" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203624" "00202593" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203625" "00202594" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203626" "00202595" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203627" "00202596" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 21:04:23" "SEQ" "DNA" "" "" "0000203628" "00202597" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203629" "00202598" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203630" "00202599" "1" "02939" "02939" "2008-02-08 17:17:00" "02939" "2010-03-03 15:50:00" "SEQ" "DNA" "" "" "0000203631" "00202600" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "RT-PCR;SEQ" "DNA;RNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000203632" "00202601" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-04-29 01:00:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203633" "00202602" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-04-29 01:00:00" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203634" "00202603" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 22:32:52" "SEQ" "DNA" "" "" "0000203635" "00202604" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 17:21:07" "SEQ" "DNA" "" "" "0000203636" "00202605" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 21:36:16" "SEQ" "DNA" "" "" "0000203637" "00202606" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 22:05:44" "SEQ" "DNA" "" "" "0000203638" "00202607" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-07-26 20:00:00" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000203639" "00202608" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203640" "00202609" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203641" "00202610" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203643" "00202612" "1" "02939" "02939" "2008-02-08 17:17:00" "02939" "2010-03-03 15:50:00" "SEQ" "DNA" "" "" "0000203644" "00202613" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203645" "00202614" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203646" "00202615" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203647" "00202616" "1" "00640" "00640" "2008-02-08 17:17:00" "00006" "2013-06-06 14:21:30" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203648" "00202617" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 15:49:31" "SEQ" "DNA" "" "" "0000203650" "00202619" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203651" "00202620" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203652" "00202621" "1" "00640" "00640" "2008-02-08 17:17:00" "00640" "2010-03-03 15:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203653" "00202622" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203656" "00202625" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203657" "00202626" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-04-06 15:00:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203658" "00202627" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203660" "00202629" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203661" "00202630" "1" "00640" "00640" "2008-02-08 17:17:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203662" "00202631" "1" "00640" "00640" "2008-02-08 17:17:00" "00640" "2011-05-22 21:57:55" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203663" "00202632" "1" "00640" "00006" "2008-02-08 17:17:00" "02939" "2010-05-05 19:48:39" "SEQ" "DNA" "" "" "0000203664" "00202633" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000203665" "00202634" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig" "DNA" "" "" "0000203666" "00202635" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig" "DNA" "" "" "0000203667" "00202636" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig" "DNA" "" "" "0000203668" "00202637" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig" "DNA" "" "" "0000203669" "00202638" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig" "DNA" "" "" "0000203670" "00202639" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig" "DNA" "" "" "0000203671" "00202640" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig" "DNA" "" "" "0000203672" "00202641" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig" "DNA" "" "" "0000203673" "00202642" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig" "DNA" "" "" "0000203674" "00202643" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203675" "00202644" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203676" "00202645" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203677" "00202646" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203678" "00202647" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203679" "00202648" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203680" "00202649" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203681" "00202650" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203682" "00202651" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203683" "00202652" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203684" "00202653" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203685" "00202654" "1" "02939" "02939" "2008-02-27 14:40:00" "02939" "2010-01-19 20:50:00" "DHPLC" "DNA" "" "" "0000203686" "00202655" "1" "02939" "02939" "2008-02-26 14:40:00" "02939" "2010-05-14 10:46:40" "PCRdig;SEQ" "DNA" "" "" "0000203687" "00202656" "1" "02939" "02939" "2008-02-26 14:40:00" "02939" "2010-05-14 10:47:16" "PCRdig;SEQ" "DNA" "" "" "0000203688" "00202657" "1" "02939" "02939" "2008-02-26 14:40:00" "02939" "2010-05-14 10:47:40" "PCRdig;SEQ" "DNA" "" "" "0000203689" "00202658" "1" "02939" "02939" "2008-02-26 14:40:00" "02939" "2010-01-19 20:50:00" "PCRdig;SEQ" "DNA" "" "" "0000203690" "00202659" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203691" "00202660" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203692" "00202661" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203693" "00202662" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203694" "00202663" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203695" "00202664" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-05-05 19:55:09" "SEQ" "DNA" "" "" "0000203696" "00202665" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-05-05 19:57:32" "SEQ" "DNA" "" "" "0000203697" "00202666" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203698" "00202667" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203699" "00202668" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203700" "00202669" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203701" "00202670" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203702" "00202671" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-05-05 20:30:14" "SEQ" "DNA" "" "" "0000203703" "00202672" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-04-19 17:33:02" "SEQ" "DNA" "" "" "0000203704" "00202673" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203705" "00202674" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203706" "00202675" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-05-05 21:05:12" "SEQ" "DNA" "" "" "0000203707" "00202676" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-05-05 21:11:43" "SEQ" "DNA" "" "" "0000203708" "00202677" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203709" "00202678" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203710" "00202679" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-05-05 21:37:20" "SEQ" "DNA" "" "" "0000203711" "00202680" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203712" "00202681" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203713" "00202682" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203714" "00202683" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203715" "00202684" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203716" "00202685" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203717" "00202686" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203718" "00202687" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203719" "00202688" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203720" "00202689" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203721" "00202690" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203722" "00202691" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203723" "00202692" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203724" "00202693" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203725" "00202694" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203726" "00202695" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203727" "00202696" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203728" "00202697" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203729" "00202698" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203730" "00202699" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203731" "00202700" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203732" "00202701" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203733" "00202702" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203734" "00202703" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203735" "00202704" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203736" "00202705" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203737" "00202706" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203738" "00202707" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203739" "00202708" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203740" "00202709" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203741" "00202710" "1" "02939" "02939" "2008-07-28 14:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203742" "00202711" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan;SEQ" "DNA" "" "" "0000203743" "00202712" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan;SEQ" "DNA" "" "" "0000203744" "00202713" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan;SEQ" "DNA" "" "" "0000203745" "00202714" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan;SEQ" "DNA" "" "" "0000203746" "00202715" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan;SEQ" "DNA" "" "" "0000203747" "00202716" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan;SEQ" "DNA" "" "" "0000203748" "00202717" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan;SEQ" "DNA" "" "" "0000203749" "00202718" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan;SEQ" "DNA" "" "" "0000203750" "00202719" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203751" "00202720" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203752" "00202721" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203753" "00202722" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203754" "00202723" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203755" "00202724" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203756" "00202725" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203757" "00202726" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203758" "00202727" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203759" "00202728" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203760" "00202729" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203761" "00202730" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203762" "00202731" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan" "DNA" "" "" "0000203763" "00202732" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan" "DNA" "" "" "0000203764" "00202733" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-01-19 20:50:00" "TaqMan" "DNA" "" "" "0000203765" "00202734" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-04-20 00:08:51" "TaqMan" "DNA" "" "" "0000203766" "00202735" "1" "02939" "02939" "2008-07-29 13:00:00" "02939" "2010-04-20 00:08:13" "TaqMan" "DNA" "" "" "0000203767" "00202736" "1" "00640" "02939" "2009-04-08 22:46:43" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203768" "00202737" "1" "00640" "02939" "2009-04-09 19:41:07" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203769" "00202738" "1" "00640" "02939" "2009-04-09 19:51:01" "02939" "2010-05-06 15:14:33" "arraySNP" "DNA" "leukocyte" "" "0000203770" "00202739" "1" "00640" "02939" "2009-04-09 20:09:39" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203771" "00202740" "1" "00640" "02939" "2009-04-09 20:21:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203772" "00202741" "1" "00640" "02939" "2009-04-09 20:59:50" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203773" "00202742" "1" "00640" "02939" "2009-04-09 21:28:26" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203774" "00202743" "1" "00640" "02939" "2009-04-09 21:51:14" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203775" "00202744" "1" "00640" "00640" "2007-08-14 12:00:00" "00640" "2009-04-29 13:56:05" "SEQ" "DNA" "" "" "0000203776" "00202745" "1" "00640" "00640" "2007-10-24 12:00:00" "00640" "2009-04-29 13:56:05" "SEQ" "DNA" "" "" "0000203777" "00202746" "1" "02939" "02939" "2009-04-26 15:00:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "SSCA (coding, flanking)" "0000203778" "00202747" "1" "02939" "02939" "2009-04-26 15:00:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203779" "00202748" "1" "02939" "02939" "2009-04-26 15:00:00" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "" "" "0000203780" "00202749" "1" "02939" "02939" "2008-04-28 18:00:50" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203781" "00202750" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203782" "00202751" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203783" "00202752" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203784" "00202753" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203785" "00202754" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203786" "00202755" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203787" "00202756" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203788" "00202757" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203789" "00202758" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203790" "00202759" "1" "02939" "02939" "2009-05-11 17:10:04" "02939" "2010-01-19 20:50:00" "PCR" "DNA" "" "" "0000203791" "00202760" "1" "02939" "02939" "2009-05-11 18:56:35" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203792" "00202761" "1" "02939" "02939" "2009-05-11 18:56:35" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203793" "00202762" "1" "02939" "02939" "2009-05-11 18:56:35" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203794" "00202763" "1" "02939" "02939" "2009-05-11 18:56:35" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203795" "00202764" "1" "02939" "02939" "2009-05-11 18:56:35" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203796" "00202765" "1" "02939" "02939" "2009-05-11 18:56:35" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203797" "00202766" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203798" "00202767" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "hotspot mutation analysis (index)" "0000203799" "00202768" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203800" "00202769" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203801" "00202770" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-04-06 15:00:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203802" "00202771" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203803" "00202772" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203804" "00202773" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000203805" "00202774" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203806" "00202775" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203807" "00202776" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203808" "00202777" "1" "00640" "02939" "2009-06-24 10:48:17" "00640" "2014-11-07 09:07:05" "RT-PCR;SEQ" "DNA;RNA" "leukocyte" "screen MUTYH gene (index)" "0000203809" "00202778" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203810" "00202779" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203811" "00202780" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203812" "00202781" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203813" "00202782" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203814" "00202783" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203815" "00202784" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000203816" "00202785" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203817" "00202786" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203818" "00202787" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203819" "00202788" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203820" "00202789" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203821" "00202790" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203822" "00202791" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203823" "00202792" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203824" "00202793" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203825" "00202794" "1" "00640" "02939" "2009-06-24 10:48:17" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203826" "00202795" "1" "00640" "02939" "2009-06-24 10:48:18" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203827" "00202796" "1" "00640" "02939" "2009-06-24 10:48:18" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203828" "00202797" "1" "00640" "02939" "2009-06-24 10:48:18" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203829" "00202798" "1" "00640" "00640" "2009-06-24 10:48:01" "02939" "2010-05-06 15:14:33" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203830" "00202799" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:40:29" "SEQ" "DNA" "" "" "0000203831" "00202800" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:41:35" "SEQ" "DNA" "" "" "0000203832" "00202801" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:43:09" "SEQ" "DNA" "" "" "0000203833" "00202802" "1" "02939" "00006" "2009-10-30 13:02:30" "02939" "2010-05-05 15:21:30" "SEQ" "DNA" "" "" "0000203834" "00202803" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203835" "00202804" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:39:13" "SEQ" "DNA" "" "" "0000203836" "00202805" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-07-15 23:51:57" "SEQ" "DNA" "" "" "0000203837" "00202806" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:22:10" "SEQ" "DNA" "" "" "0000203838" "00202807" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203839" "00202808" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203841" "00202810" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203842" "00202811" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203843" "00202812" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203844" "00202813" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:01:09" "SEQ" "DNA" "" "" "0000203845" "00202814" "1" "02939" "00006" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203846" "00202815" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 10:00:00" "SEQ" "DNA" "" "" "0000203847" "00202816" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203848" "00202817" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203849" "00202818" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203850" "00202819" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203851" "00202820" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203852" "00202821" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203853" "00202822" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203854" "00202823" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 08:39:39" "SEQ" "DNA" "" "" "0000203855" "00202824" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:57:13" "SEQ" "DNA" "" "" "0000203856" "00202825" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:53:20" "SEQ" "DNA" "" "" "0000203858" "00202827" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203859" "00202828" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203860" "00202829" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203861" "00202830" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203862" "00202831" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203863" "00202832" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203864" "00202833" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203865" "00202834" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203866" "00202835" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203867" "00202836" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:49:12" "SEQ" "DNA" "" "" "0000203868" "00202837" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203869" "00202838" "1" "00645" "00006" "2009-10-30 13:02:30" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203870" "00202839" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 08:54:46" "SEQ" "DNA" "" "" "0000203871" "00202840" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:45:33" "SEQ" "DNA" "" "" "0000203872" "00202841" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203873" "00202842" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203875" "00202844" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203876" "00202845" "1" "00645" "00006" "2009-10-30 13:02:30" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203877" "00202846" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203878" "00202847" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203879" "00202848" "1" "00642" "00640" "2009-10-30 13:02:30" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203880" "00202849" "1" "00642" "00640" "2009-10-30 13:02:30" "00006" "2010-06-06 09:31:25" "SEQ" "DNA" "" "" "0000203881" "00202850" "1" "00642" "00640" "2009-10-30 13:02:31" "00006" "2010-06-06 09:27:12" "SEQ" "DNA" "" "" "0000203882" "00202851" "1" "00642" "00640" "2009-10-30 13:02:31" "00006" "2010-06-06 08:57:01" "SEQ" "DNA" "" "" "0000203883" "00202852" "1" "02939" "02939" "2009-12-08 15:21:00" "02939" "2010-04-14 14:19:46" "SEQ" "DNA" "" "" "0000203884" "00202853" "1" "02939" "02939" "2009-12-08 15:21:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203885" "00202854" "1" "02939" "02939" "2009-12-08 15:21:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203886" "00202855" "1" "02939" "02939" "2009-12-08 15:21:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203887" "00202856" "1" "02939" "02939" "2009-12-08 15:21:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203888" "00202857" "1" "02939" "02939" "2009-12-08 15:21:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203889" "00202858" "1" "02939" "02939" "2009-12-08 15:21:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203890" "00202859" "1" "02939" "02939" "2009-12-08 15:21:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203891" "00202860" "1" "02939" "02939" "2009-12-08 15:21:00" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "" "" "0000203898" "00202867" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203899" "00202868" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203900" "00202869" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203901" "00202870" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203902" "00202871" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203903" "00202872" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203904" "00202873" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203905" "00202874" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203906" "00202875" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;TaqMan" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203907" "00202876" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;TaqMan" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203908" "00202877" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;TaqMan" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203909" "00202878" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;TaqMan" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203910" "00202879" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;TaqMan" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203911" "00202880" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;TaqMan" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203912" "00202881" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203913" "00202882" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203914" "00202883" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203915" "00202884" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203916" "00202885" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203917" "00202886" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;TaqMan" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203918" "00202887" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203919" "00202888" "1" "02939" "02939" "2010-01-12 10:36:34" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "Taqman 4 variants, screen MUTYH gene (index)" "0000203920" "00202889" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen ex 7 and 13 (index)" "0000203921" "00202890" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203922" "00202891" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203923" "00202892" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203924" "00202893" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203925" "00202894" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203926" "00202895" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203927" "00202896" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203928" "00202897" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203929" "00202898" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203930" "00202899" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203931" "00202900" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203932" "00202901" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203933" "00202902" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203934" "00202903" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203935" "00202904" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000203936" "00202905" "1" "02939" "02939" "2010-01-13 11:00:11" "02939" "2010-01-19 20:50:00" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group) failed" "0000203937" "00202906" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203938" "00202907" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203939" "00202908" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203940" "00202909" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203941" "00202910" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203942" "00202911" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203943" "00202912" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203944" "00202913" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203945" "00202914" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203946" "00202915" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203947" "00202916" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203948" "00202917" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203949" "00202918" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203950" "00202919" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203951" "00202920" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203952" "00202921" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203953" "00202922" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203954" "00202923" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203955" "00202924" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203956" "00202925" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203957" "00202926" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000203958" "00202927" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "CSCE;SEQ" "DNA" "normal colon, FFPE" "test known variant (group)" "0000203959" "00202928" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "CSCE;SEQ" "DNA" "normal colon, FFPE" "ex 7-13, test known variant (group)" "0000203960" "00202929" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203961" "00202930" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "CSCE;SEQ" "DNA" "normal colon, FFPE" "test known variant (group)" "0000203962" "00202931" "1" "02939" "02939" "2010-01-19 10:58:24" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203963" "00202932" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203964" "00202933" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203965" "00202934" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203966" "00202935" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203967" "00202936" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203968" "00202937" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203969" "00202938" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203970" "00202939" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203971" "00202940" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203972" "00202941" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203973" "00202942" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203974" "00202943" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203975" "00202944" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203976" "00202945" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203977" "00202946" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203978" "00202947" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203979" "00202948" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203980" "00202949" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203981" "00202950" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203982" "00202951" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203983" "00202952" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203984" "00202953" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203985" "00202954" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203986" "00202955" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203987" "00202956" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203988" "00202957" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203989" "00202958" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203990" "00202959" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203991" "00202960" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203992" "00202961" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203993" "00202962" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203994" "00202963" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203995" "00202964" "1" "02939" "02939" "2010-01-19 18:09:23" "02939" "2010-01-19 20:50:00" "MCA;SEQ" "DNA" "leukocyte" "genotyping, test known variant (group)" "0000203996" "00202965" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "" "" "0000203997" "00202966" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "DHPLC;SSCA;SEQ" "DNA" "" "screen MUTYH gene (group)" "0000203998" "00202967" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000203999" "00202968" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204000" "00202969" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "PCRdig;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204001" "00202970" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "PCRdig;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204002" "00202971" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204003" "00202972" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "PCRdig;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204004" "00202973" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "PCRdig;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204005" "00202974" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "PCRdig;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204006" "00202975" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "PCRdig;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204007" "00202976" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204008" "00202977" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204009" "00202978" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204010" "00202979" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204011" "00202980" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204012" "00202981" "1" "02939" "02939" "2010-01-21 02:07:18" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204013" "00202982" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204014" "00202983" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204015" "00202984" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204016" "00202985" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204017" "00202986" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204018" "00202987" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204019" "00202988" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204020" "00202989" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204021" "00202990" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204022" "00202991" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204023" "00202992" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204024" "00202993" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204025" "00202994" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204026" "00202995" "1" "02939" "02939" "2010-01-21 02:07:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204027" "00202996" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204028" "00202997" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204029" "00202998" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204030" "00202999" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204031" "00203000" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204032" "00203001" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204033" "00203002" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204034" "00203003" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204035" "00203004" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204036" "00203005" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204037" "00203006" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204038" "00203007" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204039" "00203008" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204040" "00203009" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204041" "00203010" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204042" "00203011" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204043" "00203012" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:46:52" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204044" "00203013" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204045" "00203014" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204046" "00203015" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204047" "00203016" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204048" "00203017" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-01-24 14:49:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204049" "00203018" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204050" "00203019" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204051" "00203020" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204052" "00203021" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "PCRdig" "DNA" "tumor" "PCRdig, specific genotyping, test known variants (group)" "0000204053" "00203022" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "PCRdig" "DNA" "tumor" "PCRdig, specific genotyping, test known variants (group)" "0000204054" "00203023" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-02-01 13:38:22" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204055" "00203024" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "SEQ" "DNA" "leukocyte" "test known variants (relative)" "0000204056" "00203025" "1" "02939" "02939" "2010-01-21 15:53:05" "02939" "2010-03-03 15:50:00" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204057" "00203026" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204058" "00203027" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204059" "00203028" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204060" "00203029" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204061" "00203030" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204062" "00203031" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204063" "00203032" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204064" "00203033" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204065" "00203034" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204066" "00203035" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204067" "00203036" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204068" "00203037" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204069" "00203038" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204070" "00203039" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204071" "00203040" "1" "00645" "02939" "2010-01-21 15:53:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204072" "00203041" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204073" "00203042" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204074" "00203043" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204075" "00203044" "1" "02939" "02939" "2010-01-21 15:53:05" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204076" "00203045" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204077" "00203046" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204078" "00203047" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204079" "00203048" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204080" "00203049" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204081" "00203050" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204082" "00203051" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204083" "00203052" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204084" "00203053" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204085" "00203054" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204086" "00203055" "1" "00640" "02939" "2010-01-22 14:45:57" "" "" "SEQ" "DNA" "" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204087" "00203056" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204088" "00203057" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204089" "00203058" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204090" "00203059" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204091" "00203060" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204092" "00203061" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204093" "00203062" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204094" "00203063" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204095" "00203064" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204096" "00203065" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204097" "00203066" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204098" "00203067" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204099" "00203068" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204100" "00203069" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204101" "00203070" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204102" "00203071" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204103" "00203072" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204104" "00203073" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "IHC;SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204105" "00203074" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (group)" "0000204106" "00203075" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (group)" "0000204107" "00203076" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (group)" "0000204108" "00203077" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (group)" "0000204109" "00203078" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (group)" "0000204110" "00203079" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (group)" "0000204111" "00203080" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (group)" "0000204112" "00203081" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (group)" "0000204113" "00203082" "1" "02939" "02939" "2010-02-01 11:36:26" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (group)" "0000204114" "00203083" "1" "02939" "02939" "2010-02-02 15:59:18" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204115" "00203084" "1" "02939" "02939" "2010-02-02 15:59:18" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (relative)" "0000204116" "00203085" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204117" "00203086" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204118" "00203087" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204119" "00203088" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204120" "00203089" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204121" "00203090" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204122" "00203091" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204123" "00203092" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204124" "00203093" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204125" "00203094" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204126" "00203095" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204127" "00203096" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204128" "00203097" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204129" "00203098" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204130" "00203099" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204131" "00203100" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204132" "00203101" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204133" "00203102" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204134" "00203103" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204135" "00203104" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204136" "00203105" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204137" "00203106" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204138" "00203107" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204139" "00203108" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204140" "00203109" "1" "02939" "02939" "2010-02-02 15:59:19" "" "" "SSCA;SEQ" "DNA" "leukocyte" "SSCA ex 1-16, screen MUTYH gene (index)" "0000204141" "00203110" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), test known variant (group)" "0000204142" "00203111" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), test known variant (group)" "0000204143" "00203112" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204144" "00203113" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204145" "00203114" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204146" "00203115" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204147" "00203116" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204148" "00203117" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204149" "00203118" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204150" "00203119" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204151" "00203120" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204152" "00203121" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204153" "00203122" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204154" "00203123" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204155" "00203124" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204156" "00203125" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204157" "00203126" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204158" "00203127" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204159" "00203128" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204160" "00203129" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204161" "00203130" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204162" "00203131" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204163" "00203132" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204164" "00203133" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204165" "00203134" "1" "02939" "02939" "2010-02-04 00:33:42" "02939" "2010-05-06 12:43:17" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204166" "00203135" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204167" "00203136" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204168" "00203137" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204169" "00203138" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204170" "00203139" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204171" "00203140" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204172" "00203141" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204173" "00203142" "1" "02939" "02939" "2010-02-04 00:33:42" "02939" "2010-05-06 12:23:13" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204174" "00203143" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204175" "00203144" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204176" "00203145" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204177" "00203146" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204178" "00203147" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204179" "00203148" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204180" "00203149" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204181" "00203150" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204182" "00203151" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "SEQ" "DNA" "leukocyte" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204183" "00203152" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204184" "00203153" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204185" "00203154" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204186" "00203155" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204187" "00203156" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204188" "00203157" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204189" "00203158" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204190" "00203159" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204191" "00203160" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204192" "00203161" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204193" "00203162" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204194" "00203163" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204195" "00203164" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204196" "00203165" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204197" "00203166" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204198" "00203167" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204199" "00203168" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204200" "00203169" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204201" "00203170" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204202" "00203171" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204203" "00203172" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204204" "00203173" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204205" "00203174" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204206" "00203175" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204207" "00203176" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204208" "00203177" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204209" "00203178" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204210" "00203179" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204211" "00203180" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204212" "00203181" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204213" "00203182" "1" "02939" "02939" "2010-02-04 00:33:42" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204214" "00203183" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204215" "00203184" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204216" "00203185" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204217" "00203186" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204218" "00203187" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204219" "00203188" "1" "02939" "02939" "2010-02-04 00:33:43" "02939" "2010-05-06 11:18:17" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204220" "00203189" "1" "02939" "02939" "2010-02-04 00:33:43" "02939" "2010-05-06 11:19:40" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204221" "00203190" "1" "02939" "02939" "2010-02-04 00:33:43" "02939" "2010-05-06 11:20:35" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204222" "00203191" "1" "02939" "02939" "2010-02-04 00:33:43" "02939" "2010-05-06 12:45:35" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204223" "00203192" "1" "02939" "02939" "2010-02-04 00:33:43" "02939" "2010-05-06 11:10:21" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204224" "00203193" "1" "02939" "02939" "2010-02-04 00:33:43" "02939" "2010-05-06 12:31:58" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, screen MUTYH gene (index)" "0000204225" "00203194" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204226" "00203195" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204227" "00203196" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204228" "00203197" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16 screen MUTYH gene (group)" "0000204229" "00203198" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, test known variants (relative)" "0000204230" "00203199" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, test known variants (relative)" "0000204231" "00203200" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, test known variants (relatives)" "0000204232" "00203201" "1" "02939" "02939" "2010-02-04 00:33:43" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "ex 1-16, test known variants (relatives)" "0000204233" "00203202" "1" "02939" "02939" "2010-02-04 13:35:40" "" "" "SEQ" "DNA" "FFPE, non-cancerous gastric mucosa" "SEQ (ex1-16), screen MUTYH gene (index)" "0000204234" "00203203" "1" "02939" "02939" "2010-02-04 13:35:40" "" "" "SEQ" "DNA" "FFPE, non-cancerous gastric mucosa" "ex 1-16 screen MUTYH gene (group)" "0000204235" "00203204" "1" "02939" "02939" "2010-02-04 13:35:40" "" "" "SEQ" "DNA" "FFPE, non-cancerous gastric mucosa" "ex 1-16 screen MUTYH gene (group)" "0000204236" "00203205" "1" "02939" "02939" "2010-02-04 13:35:40" "" "" "SEQ" "DNA" "FFPE, non-cancerous gastric mucosa" "ex 1-16 screen MUTYH gene (group)" "0000204237" "00203206" "1" "02939" "02939" "2010-02-04 13:35:40" "" "" "SEQ" "DNA" "" "Fragment analysis, test known variants (group)" "0000204238" "00203207" "1" "02939" "02939" "2010-02-04 13:35:40" "" "" "PCR" "DNA" "" "genotyping, test known variants (group)" "0000204239" "00203208" "1" "02939" "02939" "2010-02-04 13:35:40" "" "" "PCR" "DNA" "" "genotyping, test known variants (group)" "0000204240" "00203209" "1" "02939" "02939" "2010-02-04 13:35:40" "" "" "DHPLC;SEQ" "DNA" "" "ex2, test known variants (group)" "0000204241" "00203210" "1" "02939" "02939" "2010-02-04 13:35:40" "" "" "DHPLC;SEQ" "DNA" "" "ex2, test known variants (group)" "0000204242" "00203211" "1" "00640" "00640" "2010-02-09 13:53:37" "02939" "2010-05-05 20:43:26" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204243" "00203212" "1" "00640" "00640" "2010-02-09 13:53:37" "02939" "2010-05-05 20:47:03" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204244" "00203213" "1" "00640" "00640" "2010-02-09 13:53:37" "02939" "2010-05-05 19:52:17" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204245" "00203214" "1" "00640" "00640" "2010-02-09 13:53:37" "02939" "2010-05-05 22:13:49" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204246" "00203215" "1" "00640" "00640" "2010-02-09 13:53:37" "02939" "2010-05-05 21:58:54" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204247" "00203216" "1" "00640" "00640" "2010-02-09 13:53:37" "02939" "2010-05-05 20:48:22" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204248" "00203217" "1" "00640" "00640" "2010-02-09 13:53:37" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204249" "00203218" "1" "01065" "00640" "2010-02-19 16:45:26" "" "" "SEQ" "DNA" "leukocyte" "" "0000204250" "00203219" "1" "01065" "00640" "2010-02-19 16:50:14" "" "" "SEQ" "DNA" "leukocyte" "" "0000204251" "00203220" "1" "01065" "00640" "2010-02-19 16:54:29" "" "" "SEQ" "DNA" "leukocyte" "" "0000204252" "00203221" "1" "00640" "00640" "2010-02-21 17:30:44" "00640" "2010-02-22 09:59:11" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204253" "00203222" "1" "00640" "00640" "2010-02-21 17:30:44" "00640" "2010-02-22 10:04:38" "DHPLC;SEQ" "DNA" "leukocyte" "test known variant (group)" "0000204254" "00203223" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "normal colonic tissue" "screen MUTYH gene (index)" "0000204255" "00203224" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "normal colonic tissue" "screen MUTYH gene (index)" "0000204256" "00203225" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "normal colonic tissue" "screen MUTYH gene (index)" "0000204257" "00203226" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "normal colonic tissue" "screen MUTYH gene (index)" "0000204258" "00203227" "1" "00640" "00640" "2010-02-21 17:30:44" "02939" "2010-03-05 11:06:18" "SEQ" "DNA" "normal colonic tissue" "screen MUTYH gene (index)" "0000204259" "00203228" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "normal colonic tissue" "screen MUTYH gene (index)" "0000204260" "00203229" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "leukocyte" "test known variant (100 controls)" "0000204261" "00203230" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "PCRdig" "DNA" "leukocyte" "test known variant (645 controls)" "0000204262" "00203231" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "PCRdig" "DNA" "leukocyte" "test known variant (645 controls)" "0000204263" "00203232" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "PCRdig" "DNA" "leukocyte" "test known variant (645 controls)" "0000204264" "00203233" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "PCRdig" "DNA" "leukocyte" "test known variant (645 controls)" "0000204265" "00203234" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "PCRdig" "DNA" "leukocyte" "test known variant (645 controls)" "0000204266" "00203235" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "tumor" "screen ex 7, 8 and 13 (index)" "0000204267" "00203236" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "tumor" "screen ex 7, 8 and 13 (index)" "0000204268" "00203237" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "tumor" "test known variant" "0000204269" "00203238" "1" "00640" "00640" "2010-02-21 17:30:44" "" "" "SEQ" "DNA" "tumor" "test known variant" "0000204270" "00203239" "1" "00644" "00640" "2010-03-01 15:26:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "leukocyte" "" "0000204271" "00203240" "1" "00644" "00640" "2010-03-01 15:34:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "leukocyte" "" "0000204272" "00203241" "1" "00644" "00640" "2010-03-01 15:56:34" "" "" "RT-PCR;SEQ" "DNA;RNA" "leukocyte" "" "0000204273" "00203242" "1" "00644" "00640" "2010-03-01 16:05:41" "" "" "SEQ" "DNA" "leukocyte" "" "0000204274" "00203243" "1" "00644" "00640" "2010-03-01 16:14:16" "" "" "SEQ" "DNA" "leukocyte" "" "0000204275" "00203244" "1" "00644" "00640" "2010-03-01 16:23:10" "" "" "RT-PCR;SEQ" "DNA;RNA" "leukocyte" "" "0000204276" "00203245" "1" "00644" "00640" "2010-03-01 16:31:53" "00006" "2013-06-06 14:21:31" "RT-PCR;SEQ" "DNA;RNA" "leukocyte" "" "0000204277" "00203246" "1" "01067" "00640" "2010-03-02 13:28:22" "" "" "SEQ" "DNA" "" "" "0000204278" "00203247" "1" "01067" "00640" "2010-03-02 13:49:47" "02939" "2010-05-06 11:12:12" "SEQ" "DNA" "" "" "0000204279" "00203248" "1" "01066" "00640" "2010-03-04 10:55:32" "" "" "SEQ" "DNA" "leukocyte" "" "0000204280" "00203249" "1" "01066" "00640" "2010-03-04 11:03:35" "" "" "SEQ" "DNA" "leukocyte" "" "0000204281" "00203250" "1" "01066" "00640" "2010-03-04 11:13:52" "" "" "SEQ" "DNA" "leukocyte" "" "0000204282" "00203251" "1" "01066" "00640" "2010-03-04 11:26:48" "" "" "SEQ" "DNA" "leukocyte" "" "0000204283" "00203252" "1" "01066" "00640" "2010-03-04 11:47:19" "" "" "SEQ" "DNA" "leukocyte" "" "0000204284" "00203253" "1" "01066" "00640" "2010-03-04 11:58:47" "" "" "SEQ" "DNA" "leukocyte" "" "0000204285" "00203254" "1" "01066" "00640" "2010-03-04 12:30:55" "" "" "SEQ" "DNA" "leukocyte" "" "0000204286" "00203255" "1" "01066" "00640" "2010-03-04 12:35:24" "" "" "SEQ" "DNA" "leukocyte" "" "0000204287" "00203256" "1" "01066" "00640" "2010-03-04 12:48:27" "02939" "2010-03-29 17:30:23" "SEQ" "DNA" "leukocyte" "" "0000204288" "00203257" "1" "01066" "00640" "2010-03-04 13:09:02" "02939" "2010-03-29 17:31:53" "SEQ" "DNA" "leukocyte" "" "0000204289" "00203258" "1" "01066" "00640" "2010-03-04 13:24:47" "" "" "SEQ" "DNA" "leukocyte" "" "0000204290" "00203259" "1" "01066" "00640" "2010-03-04 13:41:20" "" "" "SEQ" "DNA" "leukocyte" "" "0000204291" "00203260" "1" "00643" "00640" "2010-03-04 20:16:33" "02939" "2010-04-05 13:24:21" "PCR;RT-PCR;SEQ" "DNA;RNA" "leukocyte" "" "0000204292" "00203261" "1" "00579" "00640" "2010-03-11 21:10:03" "02939" "2010-05-05 22:16:56" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204293" "00203262" "1" "00579" "00640" "2010-03-11 21:10:03" "02939" "2010-05-05 22:18:48" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204294" "00203263" "1" "00579" "00640" "2010-03-11 21:10:03" "02939" "2010-05-05 22:15:13" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204295" "00203264" "1" "00579" "00640" "2010-03-11 21:10:03" "02939" "2010-05-05 21:00:17" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204296" "00203265" "1" "00579" "00640" "2010-03-11 21:10:03" "02939" "2010-05-05 22:06:30" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204297" "00203266" "1" "00579" "00640" "2010-03-11 21:10:03" "02939" "2010-05-05 21:00:55" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204298" "00203267" "1" "00579" "00640" "2010-03-11 21:10:03" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204299" "00203268" "1" "00579" "00640" "2010-03-11 21:10:03" "02939" "2010-05-05 21:01:48" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204300" "00203269" "1" "00579" "00640" "2010-03-11 21:10:03" "02939" "2010-05-05 19:59:12" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204301" "00203270" "1" "01065" "02939" "2010-03-12 10:07:38" "" "" "SEQ" "DNA" "" "" "0000204302" "00203271" "1" "01067" "00640" "2010-03-16 11:24:38" "02939" "2010-05-06 10:46:11" "SEQ" "DNA" "" "" "0000204303" "00203272" "1" "01066" "00640" "2010-03-23 10:25:44" "02939" "2010-03-29 17:53:24" "SEQ" "DNA" "leukocyte" "" "0000204304" "00203273" "1" "01066" "00640" "2010-03-23 10:30:24" "02939" "2010-03-29 19:52:11" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204305" "00203274" "1" "01066" "00640" "2010-03-23 10:40:35" "02939" "2010-03-25 10:03:42" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204306" "00203275" "1" "01066" "00640" "2010-03-23 11:18:17" "02939" "2010-05-21 15:21:30" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index; group)" "0000204307" "00203276" "1" "01066" "00640" "2010-03-23 11:23:59" "02939" "2010-05-21 15:21:30" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204308" "00203277" "1" "01066" "00640" "2010-03-23 11:35:30" "02939" "2010-05-21 15:21:30" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index; group)" "0000204309" "00203278" "1" "01066" "00640" "2010-03-23 11:38:46" "02939" "2010-05-21 15:21:30" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index; group)" "0000204310" "00203279" "1" "00585" "00640" "2010-03-24 18:20:09" "02939" "2010-03-28 17:20:11" "SEQ" "DNA" "leukocyte" "" "0000204311" "00203280" "1" "00585" "00640" "2010-03-24 20:34:10" "02939" "2010-03-28 17:21:12" "SEQ" "DNA" "leukocyte" "" "0000204312" "00203281" "1" "00585" "00640" "2010-03-24 20:43:41" "02939" "2010-03-28 17:15:48" "SEQ" "DNA" "leukocyte" "" "0000204313" "00203282" "1" "00585" "00640" "2010-03-24 21:23:39" "02939" "2010-03-28 17:18:56" "SEQ" "DNA" "leukocyte" "" "0000204314" "00203283" "1" "00585" "00640" "2010-03-24 21:42:09" "02939" "2010-03-28 17:19:29" "SEQ" "DNA" "leukocyte" "" "0000204315" "00203284" "1" "00585" "00640" "2010-03-24 22:00:02" "02939" "2010-03-28 17:21:52" "SEQ" "DNA" "leukocyte" "" "0000204316" "00203285" "1" "01071" "02939" "2010-03-30 08:28:21" "02939" "2010-04-05 22:09:10" "SEQ" "DNA" "" "" "0000204317" "00203286" "1" "01071" "02939" "2010-03-30 08:36:52" "02939" "2010-04-05 22:08:08" "SEQ" "DNA" "" "" "0000204318" "00203287" "1" "01071" "02939" "2010-03-30 08:43:09" "02939" "2010-04-05 22:07:28" "SEQ" "DNA" "" "" "0000204319" "00203288" "1" "00154" "00640" "2010-04-01 14:18:22" "02939" "2010-05-05 22:35:50" "SEQ" "DNA" "" "" "0000204320" "00203289" "1" "00154" "00640" "2010-04-01 14:30:57" "" "" "SEQ" "DNA" "" "" "0000204321" "00203290" "1" "00154" "00640" "2010-04-01 14:35:55" "" "" "SEQ" "DNA" "" "screening" "0000204322" "00203291" "1" "00154" "00640" "2010-04-01 14:39:23" "" "" "SEQ" "DNA" "" "screening" "0000204323" "00203292" "1" "00154" "00640" "2010-04-01 14:42:49" "" "" "SEQ" "DNA" "" "" "0000204324" "00203293" "1" "00154" "00640" "2010-04-01 14:45:08" "" "" "SEQ" "DNA" "" "screening" "0000204325" "00203294" "1" "00154" "00640" "2010-04-01 14:47:29" "" "" "SEQ" "DNA" "" "testing known variant" "0000204326" "00203295" "1" "00154" "00640" "2010-04-01 14:52:17" "" "" "SEQ" "DNA" "" "screening" "0000204327" "00203296" "1" "00154" "00640" "2010-04-01 14:56:05" "" "" "SEQ" "DNA" "" "screening" "0000204328" "00203297" "1" "00154" "00640" "2010-04-01 15:00:30" "" "" "SEQ" "DNA" "" "screening" "0000204329" "00203298" "1" "00154" "00640" "2010-04-01 15:03:51" "" "" "SEQ" "DNA" "" "screening" "0000204330" "00203299" "1" "00154" "00640" "2010-04-01 15:09:03" "" "" "SEQ" "DNA" "" "screening" "0000204331" "00203300" "1" "00154" "00640" "2010-04-01 15:13:00" "" "" "SEQ" "DNA" "" "screening" "0000204332" "00203301" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204333" "00203302" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "leukocyte" "screen MUTYH gene (index)" "0000204336" "00203305" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "leukocyte" "screen MUTYH gene (index)" "0000204342" "00203311" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204343" "00203312" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204345" "00203314" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204348" "00203317" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204349" "00203318" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204350" "00203319" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204353" "00203322" "1" "00643" "00640" "2010-04-05 12:13:05" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204354" "00203323" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204355" "00203324" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204356" "00203325" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204357" "00203326" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204358" "00203327" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204359" "00203328" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204360" "00203329" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204361" "00203330" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204362" "00203331" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204363" "00203332" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204364" "00203333" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204365" "00203334" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204366" "00203335" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204367" "00203336" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204368" "00203337" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204369" "00203338" "1" "01070" "00640" "2010-04-05 13:56:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204370" "00203339" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204371" "00203340" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204372" "00203341" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204373" "00203342" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204374" "00203343" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204375" "00203344" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204376" "00203345" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204377" "00203346" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204378" "00203347" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204379" "00203348" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204380" "00203349" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204381" "00203350" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204382" "00203351" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204383" "00203352" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204384" "00203353" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204385" "00203354" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204386" "00203355" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204387" "00203356" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204388" "00203357" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204389" "00203358" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204390" "00203359" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204391" "00203360" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204392" "00203361" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204393" "00203362" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204394" "00203363" "1" "00645" "00640" "2010-04-05 20:46:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204403" "00203372" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204408" "00203377" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204410" "00203379" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204413" "00203382" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204419" "00203388" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204432" "00203401" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204434" "00203403" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204436" "00203405" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204437" "00203406" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204438" "00203407" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204440" "00203409" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204441" "00203410" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204442" "00203411" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204443" "00203412" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204444" "00203413" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204445" "00203414" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204446" "00203415" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204447" "00203416" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204448" "00203417" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204449" "00203418" "1" "00640" "00640" "2010-04-07 14:44:23" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204450" "00203419" "1" "00100" "02939" "2010-04-08 13:17:15" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204451" "00203420" "1" "00100" "02939" "2010-04-08 13:17:15" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204452" "00203421" "1" "00100" "02939" "2010-04-08 13:17:15" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204453" "00203422" "1" "00100" "02939" "2010-04-08 13:17:15" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204454" "00203423" "1" "00100" "02939" "2010-04-08 13:17:15" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204455" "00203424" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204456" "00203425" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204457" "00203426" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204458" "00203427" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204459" "00203428" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204460" "00203429" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204461" "00203430" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204462" "00203431" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204463" "00203432" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204464" "00203433" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204465" "00203434" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204466" "00203435" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204467" "00203436" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204468" "00203437" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204469" "00203438" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204470" "00203439" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204471" "00203440" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204472" "00203441" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204473" "00203442" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204474" "00203443" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204475" "00203444" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204476" "00203445" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204477" "00203446" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204478" "00203447" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204479" "00203448" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204480" "00203449" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204481" "00203450" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204482" "00203451" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204483" "00203452" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204484" "00203453" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204485" "00203454" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204486" "00203455" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204487" "00203456" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204488" "00203457" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204489" "00203458" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204490" "00203459" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204491" "00203460" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204492" "00203461" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204493" "00203462" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204494" "00203463" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204495" "00203464" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204496" "00203465" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204497" "00203466" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204498" "00203467" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204499" "00203468" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204500" "00203469" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204501" "00203470" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204502" "00203471" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204503" "00203472" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204504" "00203473" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204505" "00203474" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204506" "00203475" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204507" "00203476" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204508" "00203477" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204509" "00203478" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204510" "00203479" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204511" "00203480" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204512" "00203481" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204513" "00203482" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204514" "00203483" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204515" "00203484" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204516" "00203485" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204517" "00203486" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204518" "00203487" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204519" "00203488" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204520" "00203489" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204521" "00203490" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204522" "00203491" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204523" "00203492" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204524" "00203493" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204525" "00203494" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204526" "00203495" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204527" "00203496" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204528" "00203497" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204529" "00203498" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204530" "00203499" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204531" "00203500" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204532" "00203501" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204533" "00203502" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204534" "00203503" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204535" "00203504" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204536" "00203505" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204537" "00203506" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204538" "00203507" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204539" "00203508" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204540" "00203509" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204541" "00203510" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204542" "00203511" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204543" "00203512" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204544" "00203513" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204545" "00203514" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204546" "00203515" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204547" "00203516" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204548" "00203517" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204549" "00203518" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204550" "00203519" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204551" "00203520" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204552" "00203521" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204553" "00203522" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204554" "00203523" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204555" "00203524" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204556" "00203525" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204557" "00203526" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204558" "00203527" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204559" "00203528" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204560" "00203529" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204561" "00203530" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (part?) (relative)" "0000204562" "00203531" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204563" "00203532" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204564" "00203533" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204565" "00203534" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204566" "00203535" "1" "00100" "02939" "2010-04-08 13:17:16" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204567" "00203536" "1" "00100" "02939" "2010-04-08 15:03:06" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204568" "00203537" "1" "00100" "02939" "2010-04-08 15:03:06" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204569" "00203538" "1" "00100" "02939" "2010-04-08 15:03:06" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204570" "00203539" "1" "02939" "02939" "2010-04-12 13:53:04" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204571" "00203540" "1" "02939" "02939" "2010-04-12 13:53:04" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204572" "00203541" "1" "02939" "02939" "2010-04-12 13:53:04" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204573" "00203542" "1" "02939" "02939" "2010-04-12 13:53:04" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204574" "00203543" "1" "02939" "02939" "2010-04-12 15:46:50" "" "" "SEQ" "DNA" "" "" "0000204575" "00203544" "1" "02939" "02939" "2010-04-12 15:46:50" "" "" "SEQ" "DNA" "" "" "0000204576" "00203545" "1" "02939" "02939" "2010-04-12 15:46:50" "02939" "2010-04-13 12:44:03" "SEQ" "DNA" "" "" "0000204577" "00203546" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:02:41" "SEQ" "DNA" "" "" "0000204578" "00203547" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:03:03" "SEQ" "DNA" "" "" "0000204579" "00203548" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:03:30" "SEQ" "DNA" "" "" "0000204580" "00203549" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:03:52" "SEQ" "DNA" "" "" "0000204581" "00203550" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:04:46" "SEQ" "DNA" "" "" "0000204582" "00203551" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:05:14" "SEQ" "DNA" "" "" "0000204583" "00203552" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:05:43" "SEQ" "DNA" "" "" "0000204584" "00203553" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:06:08" "SEQ" "DNA" "" "" "0000204585" "00203554" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:06:40" "SEQ" "DNA" "" "" "0000204586" "00203555" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:07:18" "SEQ" "DNA" "" "" "0000204587" "00203556" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:07:57" "SEQ" "DNA" "" "" "0000204588" "00203557" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:08:19" "SEQ" "DNA" "" "" "0000204589" "00203558" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:09:10" "SEQ" "DNA" "" "" "0000204590" "00203559" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:08:44" "SEQ" "DNA" "" "" "0000204591" "00203560" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:09:36" "SEQ" "DNA" "" "" "0000204592" "00203561" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:10:06" "SEQ" "DNA" "" "" "0000204593" "00203562" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:10:28" "SEQ" "DNA" "" "" "0000204594" "00203563" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:04:14" "SEQ" "DNA" "" "" "0000204595" "00203564" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:10:51" "SEQ" "DNA" "" "" "0000204596" "00203565" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:11:21" "SEQ" "DNA" "" "" "0000204597" "00203566" "1" "01073" "02939" "2010-04-12 18:55:01" "02939" "2010-04-20 11:11:50" "SEQ" "DNA" "" "" "0000204598" "00203567" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204599" "00203568" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204600" "00203569" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204601" "00203570" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204602" "00203571" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204603" "00203572" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204604" "00203573" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204605" "00203574" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204606" "00203575" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204607" "00203576" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204608" "00203577" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204609" "00203578" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204610" "00203579" "1" "01053" "00640" "2010-04-13 11:40:37" "" "" "SEQ" "DNA" "" "screen MUTYH gene" "0000204611" "00203580" "1" "02939" "02939" "2010-04-13 12:47:15" "02939" "2010-04-13 12:50:20" "SEQ" "DNA" "" "" "0000204612" "00203581" "1" "01072" "02939" "2010-04-13 16:55:20" "" "" "DGGE;SEQ" "DNA" "" "" "0000204613" "00203582" "1" "01072" "02939" "2010-04-13 16:55:20" "" "" "DGGE;SEQ" "DNA" "" "" "0000204614" "00203583" "1" "01066" "00640" "2010-04-16 09:05:42" "02939" "2010-05-21 15:12:16" "SEQ" "DNA" "leukocyte" "" "0000204615" "00203584" "1" "02939" "02939" "2010-04-27 09:51:55" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204616" "00203585" "1" "02939" "02939" "2010-04-27 09:51:55" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204617" "00203586" "1" "02939" "02939" "2010-04-27 09:51:55" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (group)" "0000204618" "00203587" "1" "02939" "02939" "2010-04-27 09:51:55" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (group)" "0000204619" "00203588" "1" "02939" "02939" "2010-04-27 09:51:55" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (group)" "0000204620" "00203589" "1" "02939" "02939" "2010-04-27 09:51:55" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (group)" "0000204621" "00203590" "1" "02939" "02939" "2010-04-27 09:51:55" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (group)" "0000204622" "00203591" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204623" "00203592" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204624" "00203593" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204625" "00203594" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204626" "00203595" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204627" "00203596" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204628" "00203597" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204629" "00203598" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204630" "00203599" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204631" "00203600" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204632" "00203601" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204633" "00203602" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204634" "00203603" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204635" "00203604" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204636" "00203605" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204637" "00203606" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204638" "00203607" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204639" "00203608" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204640" "00203609" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204641" "00203610" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204642" "00203611" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204643" "00203612" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204644" "00203613" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204645" "00203614" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204646" "00203615" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204647" "00203616" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204648" "00203617" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "specific assay, screen MUTYH gene (index)" "0000204649" "00203618" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204650" "00203619" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204651" "00203620" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204652" "00203621" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204653" "00203622" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204654" "00203623" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204655" "00203624" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204656" "00203625" "1" "02939" "02939" "2010-04-27 15:41:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204657" "00203626" "1" "02939" "02939" "2010-04-27 18:26:11" "" "" "SSCA;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204658" "00203627" "1" "02939" "02939" "2010-04-27 18:26:11" "" "" "PCRdig" "DNA" "leukocyte" "test known variants (index)" "0000204659" "00203628" "1" "02939" "02939" "2010-04-27 18:26:11" "" "" "PCRdig" "DNA" "leukocyte" "test known variants (index)" "0000204660" "00203629" "1" "02939" "02939" "2010-04-27 18:26:11" "" "" "PCRdig" "DNA" "leukocyte" "test known variants (index)" "0000204661" "00203630" "1" "02939" "02939" "2010-04-27 18:26:11" "" "" "PCRdig" "DNA" "leukocyte" "test known variants (index)" "0000204662" "00203631" "1" "02939" "02939" "2010-04-27 18:26:11" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204663" "00203632" "1" "02939" "02939" "2010-04-27 18:26:11" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204664" "00203633" "1" "02939" "02939" "2010-04-27 18:26:11" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204665" "00203634" "1" "02939" "02939" "2010-04-27 18:26:11" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (relative)" "0000204666" "00203635" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "buccal cells" "specific genotyping, test known variants (index)" "0000204667" "00203636" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "buccal cells" "specific genotyping, test known variants (index)" "0000204668" "00203637" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "buccal cells" "specific genotyping, test known variants (index)" "0000204669" "00203638" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "buccal cells" "specific genotyping, test known variants (index)" "0000204670" "00203639" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "" "0000204671" "00203640" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "" "0000204672" "00203641" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "" "0000204673" "00203642" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "" "0000204674" "00203643" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "" "0000204675" "00203644" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "specific genotyping" "0000204676" "00203645" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "specific genotyping" "0000204677" "00203646" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "specific genotyping" "0000204678" "00203647" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "specific genotyping, test known variants (index)" "0000204679" "00203648" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "specific genotyping, test known variants (group)" "0000204680" "00203649" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "specific genotyping, test known variants (group)" "0000204681" "00203650" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "specific genotyping, test known variants (group)" "0000204682" "00203651" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "specific genotyping, test known variants (group)" "0000204683" "00203652" "1" "02939" "02939" "2010-04-28 09:57:51" "" "" "SEQ" "DNA" "" "specific genotyping, test known variants (group)" "0000204684" "00203653" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204685" "00203654" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204686" "00203655" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204687" "00203656" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204688" "00203657" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204689" "00203658" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204690" "00203659" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204691" "00203660" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204692" "00203661" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204693" "00203662" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204694" "00203663" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204695" "00203664" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204696" "00203665" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204697" "00203666" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204698" "00203667" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204699" "00203668" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204700" "00203669" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204701" "00203670" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, screen MUTYH gene (index)" "0000204702" "00203671" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204703" "00203672" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204704" "00203673" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204705" "00203674" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204706" "00203675" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204707" "00203676" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204708" "00203677" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204709" "00203678" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "DHPLC;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204710" "00203679" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204711" "00203680" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (index)" "0000204712" "00203681" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204713" "00203682" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (index)" "0000204714" "00203683" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204715" "00203684" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204716" "00203685" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SSCA;SEQ" "DNA" "" "allelic discrimination, screen MUTYH gene (group)" "0000204717" "00203686" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SSCA;SEQ" "DNA" "" "allelic discrimination, screen MUTYH gene (group)" "0000204718" "00203687" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SSCA;SEQ" "DNA" "" "allelic discrimination, screen MUTYH gene (group)" "0000204719" "00203688" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204720" "00203689" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204721" "00203690" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204722" "00203691" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204723" "00203692" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204724" "00203693" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204725" "00203694" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204726" "00203695" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204727" "00203696" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204728" "00203697" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204729" "00203698" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204730" "00203699" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204731" "00203700" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204732" "00203701" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204733" "00203702" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204734" "00203703" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204735" "00203704" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204736" "00203705" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204737" "00203706" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204738" "00203707" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204739" "00203708" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204740" "00203709" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204741" "00203710" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, test known variant (group)" "0000204742" "00203711" "1" "02939" "02939" "2010-04-28 16:52:02" "" "" "SSCA;SEQ" "DNA" "" "allelic discrimination, screen MUTYH gene (group)" "0000204743" "00203712" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "" "specific genotyping, test known variants (group)" "0000204744" "00203713" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204745" "00203714" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204746" "00203715" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204747" "00203716" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204748" "00203717" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204749" "00203718" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204750" "00203719" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204751" "00203720" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204752" "00203721" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204753" "00203722" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204754" "00203723" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204755" "00203724" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204756" "00203725" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204757" "00203726" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (group)" "0000204758" "00203727" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SSCA;SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204759" "00203728" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SSCA;SEQ" "DNA" "" "screen MUTYH gene (relative)" "0000204760" "00203729" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SSCA;SEQ" "DNA" "" "screen MUTYH gene (relative)" "0000204761" "00203730" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SSCA;SEQ" "DNA" "" "screen MUTYH gene (relative)" "0000204762" "00203731" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (group)" "0000204763" "00203732" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (group)" "0000204764" "00203733" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (group)" "0000204765" "00203734" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (group)" "0000204766" "00203735" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte or normal FFPE tissue" "specific genotyping, test known variants (index)" "0000204767" "00203736" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte or normal FFPE tissue" "specific genotyping, test known variants (index)" "0000204768" "00203737" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte or normal FFPE tissue" "specific genotyping, test known variants (index)" "0000204769" "00203738" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte or normal FFPE tissue" "specific genotyping, test known variants (index)" "0000204770" "00203739" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte or normal FFPE tissue" "specific genotyping, test known variants (index)" "0000204771" "00203740" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (index)" "0000204772" "00203741" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (group)" "0000204773" "00203742" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (index)" "0000204774" "00203743" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (index)" "0000204775" "00203744" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (group)" "0000204776" "00203745" "1" "02939" "02939" "2010-04-28 21:24:45" "" "" "SEQ" "DNA" "leukocyte" "specific genotyping, test known variants (index)" "0000204777" "00203746" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SSCA;SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204778" "00203747" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SSCA;SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204779" "00203748" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SSCA;SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204780" "00203749" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204781" "00203750" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204782" "00203751" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204783" "00203752" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204784" "00203753" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "DGGE;SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204785" "00203754" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204786" "00203755" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204787" "00203756" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204788" "00203757" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204789" "00203758" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204790" "00203759" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204791" "00203760" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204792" "00203761" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204793" "00203762" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204794" "00203763" "1" "02939" "02939" "2010-04-29 12:12:35" "" "" "SEQ" "DNA" "leukocyte" "allelic discrimination, screen MUTYH gene (index)" "0000204795" "00203764" "1" "01071" "00640" "2010-05-07 13:26:32" "" "" "SEQ" "DNA" "leukocyte" "" "0000204796" "00203765" "1" "01071" "00640" "2010-05-07 13:36:58" "" "" "SEQ" "DNA" "leukocyte" "" "0000204797" "00203766" "1" "01066" "00640" "2010-05-11 13:59:32" "02939" "2010-05-21 15:32:16" "SEQ" "DNA" "leukocyte" "" "0000204798" "00203767" "1" "00642" "00006" "2010-06-06 09:36:00" "" "" "SEQ" "DNA" "" "" "0000204799" "00203768" "1" "00642" "00640" "2010-06-06 12:17:08" "" "" "SEQ" "DNA" "" "" "0000204800" "00203769" "1" "00642" "00640" "2010-06-06 12:17:08" "" "" "SEQ" "DNA" "" "" "0000204801" "00203770" "1" "00642" "00640" "2010-06-06 12:17:08" "" "" "SEQ" "DNA" "" "" "0000204802" "00203771" "1" "00642" "00640" "2010-06-06 12:17:08" "" "" "SEQ" "DNA" "" "" "0000204803" "00203772" "1" "00642" "00640" "2010-06-06 12:17:08" "" "" "SEQ" "DNA" "" "" "0000204804" "00203773" "1" "00642" "00640" "2010-06-06 12:17:09" "" "" "SEQ" "DNA" "" "" "0000204805" "00203774" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204806" "00203775" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204807" "00203776" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204808" "00203777" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204809" "00203778" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204810" "00203779" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204811" "00203780" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204812" "00203781" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204813" "00203782" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204814" "00203783" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204815" "00203784" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204816" "00203785" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204817" "00203786" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204818" "00203787" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "DHPLC;SEQ" "DNA" "" "test known variant (group)" "0000204819" "00203788" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "DHPLC;SEQ" "DNA" "" "test known variant (group)" "0000204820" "00203789" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "DHPLC;SEQ" "DNA" "" "test known variant (group)" "0000204821" "00203790" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "DHPLC;SEQ" "DNA" "" "test known variant (group)" "0000204822" "00203791" "1" "02939" "02939" "2010-07-26 21:40:56" "" "" "DHPLC;SEQ" "DNA" "" "test known variant (group)" "0000204823" "00203792" "1" "01076" "00640" "2010-09-17 05:14:14" "" "" "PCR;SEQ" "DNA" "" "" "0000204824" "00203793" "1" "01082" "00640" "2011-05-12 15:52:55" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene" "0000204825" "00203794" "1" "01086" "00640" "2011-06-16 09:35:22" "" "" "PAGE;RT-PCR;SEQ" "DNA;RNA" "leukocyte" "" "0000204826" "00203795" "1" "01086" "00640" "2011-06-16 09:56:22" "" "" "PCR;SEQ" "DNA" "leukocyte" "" "0000204827" "00203796" "1" "01082" "00640" "2011-06-29 19:03:47" "" "" "SEQ" "DNA" "leukocyte" "" "0000204828" "00203797" "1" "01082" "00640" "2011-06-29 21:15:21" "" "" "SEQ" "DNA" "leukocyte" "" "0000204829" "00203798" "1" "01082" "00640" "2011-06-29 21:29:59" "" "" "SEQ" "DNA" "leukocyte" "" "0000204830" "00203799" "1" "01082" "00640" "2011-06-29 21:54:45" "" "" "SEQ" "DNA" "leukocyte" "" "0000204831" "00203800" "1" "01082" "00640" "2011-06-29 22:10:27" "" "" "SEQ" "DNA" "leukocyte" "" "0000204832" "00203801" "1" "01088" "00640" "2011-07-25 18:06:01" "" "" "arrayCGH;MCA" "DNA" "" "" "0000204833" "00203802" "1" "00579" "00640" "2012-01-14 16:40:27" "" "" "SEQ" "DNA" "" "" "0000204834" "00203803" "1" "00579" "00640" "2012-01-22 20:59:19" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index patient)" "0000204835" "00203804" "1" "00579" "00640" "2012-01-22 21:09:07" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index patient)" "0000204836" "00203805" "1" "00579" "00640" "2012-01-22 21:16:45" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index patient)" "0000204837" "00203806" "1" "01091" "00640" "2012-02-02 10:36:41" "" "" "SEQ;TaqMan" "DNA;RNA" "leukocyte" "" "0000204838" "00203807" "1" "01091" "00640" "2012-02-02 10:45:00" "" "" "SEQ" "DNA" "leukocyte" "" "0000204839" "00203808" "1" "01091" "00640" "2012-02-02 10:51:17" "" "" "SEQ" "DNA" "leukocyte" "" "0000204840" "00203809" "1" "00640" "00640" "2012-03-31 17:43:14" "" "" "PCR" "DNA" "leukocyte" "test known variant" "0000204841" "00203810" "1" "00640" "00640" "2012-03-31 17:48:57" "" "" "PCR" "DNA" "leukocyte" "test known variant" "0000204842" "00203811" "1" "00640" "00640" "2012-03-31 17:55:21" "" "" "PCR" "DNA" "leukocyte" "test known variant" "0000204843" "00203812" "1" "00640" "00640" "2012-04-01 14:53:12" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204844" "00203813" "1" "00640" "00640" "2012-04-01 20:00:29" "" "" "SEQ" "DNA" "leukocyte" "" "0000204845" "00203814" "1" "00640" "00640" "2012-04-01 20:10:23" "" "" "SEQ" "DNA" "leukocyte" "" "0000204846" "00203815" "1" "01091" "00640" "2012-04-24 11:20:55" "" "" "SEQ;TaqMan" "DNA" "leukocyte" "" "0000204847" "00203816" "1" "00640" "00640" "2012-09-24 16:18:52" "" "" "RT-PCR;SEQ" "DNA;RNA" "leukocyte" "" "0000204848" "00203817" "1" "00579" "00640" "2013-01-04 15:41:00" "00640" "2013-01-23 17:56:29" "SEQ" "DNA" "" "" "0000204849" "00203818" "1" "00579" "00640" "2013-01-04 15:45:58" "00640" "2013-01-23 17:38:22" "SEQ" "DNA" "" "screen MUTYH gene (index)" "0000204855" "00203824" "1" "00727" "00640" "2014-06-16 16:17:16" "" "" "SEQ" "DNA" "" "" "0000204856" "00203825" "1" "02886" "00640" "2015-01-12 18:38:50" "" "" "SEQ" "DNA" "" "" "0000204857" "00203826" "1" "00643" "00640" "2015-04-11 18:23:01" "00640" "2015-04-24 15:34:10" "SEQ" "DNA" "leukocyte" "screen index patient" "0000204858" "00203827" "1" "01131" "00640" "2015-05-07 15:28:06" "" "" "arraySEQ" "DNA" "leukocyte" "" "0000204859" "00203828" "1" "00642" "00640" "2015-11-10 11:45:47" "" "" "SEQ" "DNA" "leukocyte" "screen MUTYH gene (index)" "0000204860" "00203829" "1" "01087" "00640" "2015-11-12 10:47:25" "" "" "SEQ" "DNA" "" "" "0000204863" "00203832" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000204864" "00203833" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000204865" "00203834" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000204886" "00203855" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000204991" "00203960" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205057" "00204026" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205058" "00204027" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205059" "00204028" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205060" "00204029" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205061" "00204030" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205062" "00204031" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205063" "00204032" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205064" "00204033" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205065" "00204034" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205066" "00204035" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205067" "00204036" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205068" "00204037" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205069" "00204038" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205070" "00204039" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205071" "00204040" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205072" "00204041" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205073" "00204042" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205074" "00204043" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205075" "00204044" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205076" "00204045" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205077" "00204046" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205078" "00204047" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205079" "00204048" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205080" "00204049" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205081" "00204050" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205082" "00204051" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205083" "00204052" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205084" "00204053" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205085" "00204054" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205086" "00204055" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205087" "00204056" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205088" "00204057" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205089" "00204058" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205090" "00204059" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205091" "00204060" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205092" "00204061" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205093" "00204062" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205094" "00204063" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205095" "00204064" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205096" "00204065" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205097" "00204066" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205098" "00204067" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205099" "00204068" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205100" "00204069" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205101" "00204070" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000205102" "00204071" "1" "02940" "00770" "2018-04-21 06:42:58" "" "" "?" "DNA" "" "" "0000208991" "00207946" "1" "01164" "01164" "2018-12-04 16:43:42" "" "" "SEQ-NG" "DNA" "" "" "0000208992" "00207947" "1" "01164" "01164" "2018-12-04 16:43:44" "" "" "SEQ-NG" "DNA" "" "" "0000247010" "00245898" "1" "01164" "01164" "2019-07-11 09:54:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000247740" "00246629" "1" "01164" "01164" "2019-07-15 17:47:25" "" "" "SEQ-NG-S" "DNA" "" "" "0000247741" "00246630" "1" "01164" "01164" "2019-07-15 17:47:27" "" "" "SEQ-NG-S" "DNA" "" "" "0000247743" "00246632" "1" "01164" "01164" "2019-07-15 17:47:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000247744" "00246633" "1" "01164" "01164" "2019-07-15 17:47:33" "" "" "SEQ-NG-S" "DNA" "" "" "0000247745" "00246634" "1" "01164" "01164" "2019-07-15 17:47:33" "" "" "SEQ-NG-S" "DNA" "" "" "0000247746" "00246635" "1" "01164" "01164" "2019-07-15 17:47:33" "" "" "SEQ-NG-S" "DNA" "" "" "0000247747" "00246636" "1" "01164" "01164" "2019-07-15 17:47:33" "" "" "SEQ-NG-S" "DNA" "" "" "0000247748" "00246637" "1" "01164" "01164" "2019-07-15 17:47:33" "" "" "SEQ-NG-S" "DNA" "" "" "0000247749" "00246638" "1" "01164" "01164" "2019-07-15 17:47:36" "" "" "SEQ-NG-S" "DNA" "" "" "0000247750" "00246639" "1" "01164" "01164" "2019-07-15 17:47:36" "" "" "SEQ-NG-S" "DNA" "" "" "0000247751" "00246640" "1" "01164" "01164" "2019-07-15 17:47:36" "" "" "SEQ-NG-S" "DNA" "" "" "0000247752" "00246641" "1" "01164" "01164" "2019-07-15 17:47:36" "" "" "SEQ-NG-S" "DNA" "" "" "0000247753" "00246642" "1" "01164" "01164" "2019-07-15 17:47:40" "" "" "SEQ-NG-S" "DNA" "" "" "0000247754" "00246643" "1" "01164" "01164" "2019-07-15 17:47:40" "" "" "SEQ-NG-S" "DNA" "" "" "0000247755" "00246644" "1" "01164" "01164" "2019-07-15 17:47:42" "" "" "SEQ-NG-S" "DNA" "" "" "0000247756" "00246645" "1" "01164" "01164" "2019-07-15 17:49:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000247757" "00246646" "1" "01164" "01164" "2019-07-15 17:49:11" "" "" "SEQ-NG-S" "DNA" "" "" "0000247758" "00246647" "1" "01164" "01164" "2019-07-15 17:49:13" "" "" "SEQ-NG-S" "DNA" "" "" "0000247759" "00246648" "1" "01164" "01164" "2019-07-15 17:49:13" "" "" "SEQ-NG-S" "DNA" "" "" "0000247760" "00246649" "1" "01164" "01164" "2019-07-15 17:49:13" "" "" "SEQ-NG-S" "DNA" "" "" "0000247761" "00246650" "1" "01164" "01164" "2019-07-15 17:49:13" "" "" "SEQ-NG-S" "DNA" "" "" "0000247762" "00246651" "1" "01164" "01164" "2019-07-15 17:49:16" "" "" "SEQ-NG-S" "DNA" "" "" "0000247763" "00246652" "1" "01164" "01164" "2019-07-15 17:49:18" "" "" "SEQ-NG-S" "DNA" "" "" "0000247764" "00246653" "1" "01164" "01164" "2019-07-15 17:49:20" "" "" "SEQ-NG-S" "DNA" "" "" "0000247765" "00246654" "1" "01164" "01164" "2019-07-15 17:49:22" "" "" "SEQ-NG-S" "DNA" "" "" "0000247766" "00246655" "1" "01164" "01164" "2019-07-15 17:49:23" "" "" "SEQ-NG-S" "DNA" "" "" "0000249512" "00248408" "1" "01164" "01164" "2019-07-23 17:53:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000249513" "00248409" "1" "01164" "01164" "2019-07-23 17:53:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000249514" "00248410" "1" "01164" "01164" "2019-07-23 17:53:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000249515" "00248411" "1" "01164" "01164" "2019-07-23 17:53:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000249516" "00248412" "1" "01164" "01164" "2019-07-23 17:53:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000249517" "00248413" "1" "01164" "01164" "2019-07-23 17:53:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000249518" "00248414" "1" "01164" "01164" "2019-07-23 17:53:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000249519" "00248415" "1" "01164" "01164" "2019-07-23 17:53:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000249520" "00248416" "1" "01164" "01164" "2019-07-23 17:53:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000249521" "00248417" "1" "01164" "01164" "2019-07-23 17:53:10" "" "" "SEQ-NG-S" "DNA" "" "" "0000249522" "00248418" "1" "01164" "01164" "2019-07-23 17:53:10" "" "" "SEQ-NG-S" "DNA" "" "" "0000249523" "00248419" "1" "01164" "01164" "2019-07-23 17:53:10" "" "" "SEQ-NG-S" "DNA" "" "" "0000249524" "00248420" "1" "01164" "01164" "2019-07-23 17:53:10" "" "" "SEQ-NG-S" "DNA" "" "" "0000249525" "00248421" "1" "01164" "01164" "2019-07-23 17:53:10" "" "" "SEQ-NG-S" "DNA" "" "" "0000249535" "00248431" "1" "01164" "01164" "2019-07-23 18:26:20" "" "" "SEQ-NG-S" "DNA" "" "" "0000263218" "00262112" "1" "01164" "01164" "2019-08-19 09:49:05" "" "" "SEQ-NG-S" "DNA" "" "" "0000264238" "00263132" "1" "01164" "01164" "2019-08-23 12:00:35" "" "" "SEQ-NG-S" "DNA" "" "" "0000264239" "00263133" "1" "01164" "01164" "2019-08-23 12:00:35" "" "" "SEQ-NG-S" "DNA" "" "" "0000264240" "00263134" "1" "01164" "01164" "2019-08-23 12:00:35" "" "" "SEQ-NG-S" "DNA" "" "" "0000264241" "00263135" "1" "01164" "01164" "2019-08-23 12:00:35" "" "" "SEQ-NG-S" "DNA" "" "" "0000264242" "00263136" "1" "01164" "01164" "2019-08-23 12:00:35" "" "" "SEQ-NG-S" "DNA" "" "" "0000264243" "00263137" "1" "01164" "01164" "2019-08-23 12:00:35" "" "" "SEQ-NG-S" "DNA" "" "" "0000264244" "00263138" "1" "01164" "01164" "2019-08-23 12:00:35" "" "" "SEQ-NG-S" "DNA" "" "" "0000264245" "00263139" "1" "01164" "01164" "2019-08-23 12:25:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000264246" "00263140" "1" "01164" "01164" "2019-08-23 12:25:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000264247" "00263141" "1" "01164" "01164" "2019-08-23 12:25:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000264248" "00263142" "1" "01164" "01164" "2019-08-23 12:25:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000264249" "00263143" "1" "01164" "01164" "2019-08-23 12:25:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000265006" "00263895" "1" "01164" "01164" "2019-08-30 19:55:21" "" "" "SEQ-NG-S" "DNA" "" "" "0000265010" "00263899" "1" "01164" "01164" "2019-08-30 19:55:23" "" "" "SEQ-NG-S" "DNA" "" "" "0000265162" "00264040" "1" "01164" "01164" "2019-09-06 17:29:18" "" "" "SEQ-NG-S" "DNA" "" "" "0000265165" "00264043" "1" "01164" "01164" "2019-09-06 17:29:22" "" "" "SEQ-NG-S" "DNA" "" "" "0000265229" "00264107" "1" "01164" "01164" "2019-09-11 18:04:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000265231" "00264109" "1" "01164" "01164" "2019-09-11 18:04:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000266537" "00265411" "1" "01164" "01164" "2019-09-25 09:36:56" "" "" "SEQ-NG-S" "DNA" "" "" "0000266547" "00265421" "1" "01164" "01164" "2019-09-25 09:37:03" "" "" "SEQ-NG-S" "DNA" "" "" "0000267296" "00266175" "1" "01164" "01164" "2019-10-15 11:11:38" "" "" "SEQ-NG-S" "DNA" "" "" "0000267522" "00266395" "1" "03452" "03452" "2019-09-18 18:58:36" "" "" "SEQ-NG" "DNA" "" "" "0000267523" "00266396" "1" "03452" "03452" "2019-09-18 18:58:36" "" "" "SEQ-NG" "DNA" "" "" "0000267526" "00266399" "1" "03452" "03452" "2019-09-18 18:58:36" "" "" "SEQ-NG" "DNA" "" "" "0000267528" "00266401" "1" "03452" "03452" "2019-09-18 18:58:36" "" "" "SEQ-NG" "DNA" "" "" "0000267530" "00266403" "1" "03452" "03452" "2019-09-18 18:58:36" "" "" "SEQ-NG" "DNA" "" "" "0000267534" "00266407" "1" "03452" "03452" "2019-09-18 18:58:36" "" "" "SEQ-NG" "DNA" "" "" "0000267601" "00266475" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000267607" "00266481" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000267611" "00266485" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000270250" "00269119" "1" "01164" "01164" "2019-11-06 14:42:18" "" "" "SEQ-NG-S" "DNA" "" "" "0000291023" "00289855" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291024" "00289856" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291025" "00289857" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291026" "00289858" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291027" "00289859" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291028" "00289860" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291029" "00289861" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291030" "00289862" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291031" "00289863" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291032" "00289864" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296281" "00295113" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296409" "00295241" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296410" "00295242" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296638" "00295470" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297060" "00295888" "1" "03629" "03629" "2020-03-30 03:53:21" "" "" "SEQ-NG-I" "DNA" "" "gene panel ATM, AXIN2, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MRE11A, MSH2, MSH6, MUTYH, NF1, PALB2, PMS2, PTEN, RAD51, RAD51C, RAD51D, STK11, TP53" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000317255" "00316073" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317271" "00316089" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317281" "00316099" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317288" "00316106" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317358" "00316176" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317359" "00316177" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000336342" "00335113" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000337417" "00336187" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000337418" "00336188" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000337419" "00336189" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000337473" "00336243" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000337474" "00336244" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341318" "00340088" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341319" "00340089" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341320" "00340090" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341321" "00340091" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341322" "00340092" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341323" "00340093" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341324" "00340094" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341325" "00340095" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341326" "00340096" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341327" "00340097" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341328" "00340098" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341329" "00340099" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341330" "00340100" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341331" "00340101" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341332" "00340102" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341333" "00340103" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341334" "00340104" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341335" "00340105" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341336" "00340106" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341337" "00340107" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341338" "00340108" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341339" "00340109" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341340" "00340110" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341341" "00340111" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341342" "00340112" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341343" "00340113" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341344" "00340114" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341345" "00340115" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341346" "00340116" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341347" "00340117" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341348" "00340118" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341349" "00340119" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341350" "00340120" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341351" "00340121" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341352" "00340122" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341353" "00340123" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341354" "00340124" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341355" "00340125" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341356" "00340126" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341357" "00340127" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341358" "00340128" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341359" "00340129" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341360" "00340130" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341361" "00340131" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341362" "00340132" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341363" "00340133" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341364" "00340134" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341365" "00340135" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341366" "00340136" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341367" "00340137" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341368" "00340138" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341369" "00340139" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341370" "00340140" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341371" "00340141" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341372" "00340142" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341373" "00340143" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341374" "00340144" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341375" "00340145" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341376" "00340146" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341377" "00340147" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341378" "00340148" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341379" "00340149" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341380" "00340150" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341381" "00340151" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341382" "00340152" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341383" "00340153" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341384" "00340154" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341385" "00340155" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341386" "00340156" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341387" "00340157" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341388" "00340158" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341389" "00340159" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341390" "00340160" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341391" "00340161" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341392" "00340162" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341393" "00340163" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341394" "00340164" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341395" "00340165" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341396" "00340166" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341397" "00340167" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341398" "00340168" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341399" "00340169" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341400" "00340170" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341401" "00340171" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341402" "00340172" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341403" "00340173" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341404" "00340174" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341405" "00340175" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341406" "00340176" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341407" "00340177" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341408" "00340178" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341409" "00340179" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341410" "00340180" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341411" "00340181" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341412" "00340182" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000341413" "00340183" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343513" "00342283" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343514" "00342284" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343515" "00342285" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343516" "00342286" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343517" "00342287" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343613" "00342383" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343614" "00342384" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343615" "00342385" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343616" "00342386" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343617" "00342387" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348310" "00347080" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348311" "00347081" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348312" "00347082" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348313" "00347083" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348314" "00347084" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348315" "00347085" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348316" "00347086" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348317" "00347087" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348318" "00347088" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348319" "00347089" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348320" "00347090" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348321" "00347091" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348322" "00347092" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348323" "00347093" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348324" "00347094" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348325" "00347095" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348326" "00347096" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348327" "00347097" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348328" "00347098" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348329" "00347099" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348330" "00347100" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348331" "00347101" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348332" "00347102" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348333" "00347103" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348334" "00347104" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348335" "00347105" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348336" "00347106" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348337" "00347107" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348338" "00347108" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348339" "00347109" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348340" "00347110" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348341" "00347111" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348342" "00347112" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348343" "00347113" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348344" "00347114" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348345" "00347115" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348346" "00347116" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348347" "00347117" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348348" "00347118" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348349" "00347119" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348350" "00347120" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348351" "00347121" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348352" "00347122" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348353" "00347123" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348354" "00347124" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348355" "00347125" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348356" "00347126" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348357" "00347127" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348358" "00347128" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348359" "00347129" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348360" "00347130" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348361" "00347131" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348362" "00347132" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348363" "00347133" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348364" "00347134" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348365" "00347135" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348366" "00347136" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348367" "00347137" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348368" "00347138" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348369" "00347139" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348370" "00347140" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348371" "00347141" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348372" "00347142" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348373" "00347143" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348374" "00347144" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348375" "00347145" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348376" "00347146" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348377" "00347147" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348378" "00347148" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348379" "00347149" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348380" "00347150" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348381" "00347151" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348382" "00347152" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348383" "00347153" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348384" "00347154" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348385" "00347155" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348386" "00347156" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348387" "00347157" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348388" "00347158" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348389" "00347159" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348390" "00347160" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348391" "00347161" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348392" "00347162" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348393" "00347163" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348394" "00347164" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348395" "00347165" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348396" "00347166" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348397" "00347167" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348398" "00347168" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348399" "00347169" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348400" "00347170" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348401" "00347171" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348402" "00347172" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348403" "00347173" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348404" "00347174" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348405" "00347175" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348406" "00347176" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348407" "00347177" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348408" "00347178" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348409" "00347179" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348410" "00347180" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348411" "00347181" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348412" "00347182" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348413" "00347183" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348414" "00347184" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348415" "00347185" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348416" "00347186" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348417" "00347187" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348418" "00347188" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348419" "00347189" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000348420" "00347190" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000350543" "00349313" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000350544" "00349314" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000350582" "00349352" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353752" "00352522" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353753" "00352523" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353754" "00352524" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353755" "00352525" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353756" "00352526" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353757" "00352527" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353758" "00352528" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353759" "00352529" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353760" "00352530" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353761" "00352531" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353762" "00352532" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353763" "00352533" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353764" "00352534" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353765" "00352535" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353766" "00352536" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353767" "00352537" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353768" "00352538" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353769" "00352539" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353770" "00352540" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353771" "00352541" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353772" "00352542" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353773" "00352543" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353774" "00352544" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353775" "00352545" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353776" "00352546" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353777" "00352547" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353778" "00352548" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353779" "00352549" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353780" "00352550" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353781" "00352551" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353782" "00352552" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353783" "00352553" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353784" "00352554" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353785" "00352555" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353786" "00352556" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353787" "00352557" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353788" "00352558" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353789" "00352559" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353790" "00352560" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353791" "00352561" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353792" "00352562" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353793" "00352563" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353794" "00352564" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353795" "00352565" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353796" "00352566" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353797" "00352567" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353798" "00352568" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353799" "00352569" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353800" "00352570" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353801" "00352571" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353802" "00352572" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353803" "00352573" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353804" "00352574" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353805" "00352575" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353806" "00352576" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353807" "00352577" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353808" "00352578" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353809" "00352579" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353810" "00352580" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353811" "00352581" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353812" "00352582" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353813" "00352583" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353814" "00352584" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353815" "00352585" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353816" "00352586" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353817" "00352587" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353818" "00352588" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353819" "00352589" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353820" "00352590" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353821" "00352591" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353822" "00352592" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353823" "00352593" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353824" "00352594" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353825" "00352595" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353826" "00352596" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353827" "00352597" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353828" "00352598" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353829" "00352599" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353830" "00352600" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353831" "00352601" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353832" "00352602" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353833" "00352603" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353834" "00352604" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353835" "00352605" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353836" "00352606" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353837" "00352607" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353838" "00352608" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353839" "00352609" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353840" "00352610" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353841" "00352611" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353842" "00352612" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353843" "00352613" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353844" "00352614" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353845" "00352615" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353846" "00352616" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353847" "00352617" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353848" "00352618" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353849" "00352619" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353850" "00352620" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353851" "00352621" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353852" "00352622" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353853" "00352623" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353854" "00352624" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353855" "00352625" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353856" "00352626" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353857" "00352627" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353858" "00352628" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353859" "00352629" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353860" "00352630" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353861" "00352631" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353862" "00352632" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353863" "00352633" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353864" "00352634" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353865" "00352635" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353866" "00352636" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353867" "00352637" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353868" "00352638" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353869" "00352639" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353870" "00352640" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353871" "00352641" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353872" "00352642" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353873" "00352643" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353874" "00352644" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353875" "00352645" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353876" "00352646" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353877" "00352647" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353878" "00352648" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353879" "00352649" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353880" "00352650" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353881" "00352651" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353882" "00352652" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000353883" "00352653" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000355319" "00354089" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000355320" "00354090" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000355358" "00354128" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358528" "00357298" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358529" "00357299" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358530" "00357300" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358531" "00357301" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358532" "00357302" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358533" "00357303" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358534" "00357304" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358535" "00357305" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358536" "00357306" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358537" "00357307" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358538" "00357308" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358539" "00357309" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358540" "00357310" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358541" "00357311" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358542" "00357312" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358543" "00357313" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358544" "00357314" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358545" "00357315" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358546" "00357316" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358547" "00357317" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358548" "00357318" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358549" "00357319" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358550" "00357320" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358551" "00357321" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358552" "00357322" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358553" "00357323" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358554" "00357324" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358555" "00357325" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358556" "00357326" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358557" "00357327" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358558" "00357328" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358559" "00357329" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358560" "00357330" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358561" "00357331" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358562" "00357332" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358563" "00357333" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358564" "00357334" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358565" "00357335" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358566" "00357336" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358567" "00357337" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358568" "00357338" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358569" "00357339" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358570" "00357340" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358571" "00357341" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358572" "00357342" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358573" "00357343" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358574" "00357344" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358575" "00357345" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358576" "00357346" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358577" "00357347" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358578" "00357348" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358579" "00357349" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358580" "00357350" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358581" "00357351" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358582" "00357352" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358583" "00357353" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358584" "00357354" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358585" "00357355" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358586" "00357356" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358587" "00357357" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358588" "00357358" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358589" "00357359" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358590" "00357360" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358591" "00357361" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358592" "00357362" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358593" "00357363" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358594" "00357364" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358595" "00357365" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358596" "00357366" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358597" "00357367" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358598" "00357368" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358599" "00357369" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358600" "00357370" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358601" "00357371" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358602" "00357372" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358603" "00357373" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358604" "00357374" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358605" "00357375" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358606" "00357376" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358607" "00357377" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358608" "00357378" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358609" "00357379" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358610" "00357380" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358611" "00357381" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358612" "00357382" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358613" "00357383" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358614" "00357384" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358615" "00357385" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358616" "00357386" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358617" "00357387" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358618" "00357388" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358619" "00357389" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358620" "00357390" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358621" "00357391" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358622" "00357392" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358623" "00357393" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358624" "00357394" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358625" "00357395" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358626" "00357396" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358627" "00357397" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358628" "00357398" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358629" "00357399" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358630" "00357400" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358631" "00357401" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358632" "00357402" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358633" "00357403" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358634" "00357404" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358635" "00357405" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358636" "00357406" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358637" "00357407" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358638" "00357408" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358639" "00357409" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358640" "00357410" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358641" "00357411" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358642" "00357412" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358643" "00357413" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358644" "00357414" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358645" "00357415" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358646" "00357416" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358647" "00357417" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358648" "00357418" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358649" "00357419" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358650" "00357420" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358651" "00357421" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358652" "00357422" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358653" "00357423" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358654" "00357424" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358655" "00357425" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358656" "00357426" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358657" "00357427" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358658" "00357428" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000358659" "00357429" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000365007" "00363779" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365008" "00363780" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365009" "00363781" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365010" "00363782" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000377348" "00376152" "1" "00585" "00585" "2021-06-17 14:26:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000377351" "00376155" "1" "00585" "00585" "2021-06-17 14:26:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000408144" "00406898" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408145" "00406899" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408218" "00406972" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408219" "00406973" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000411860" "00410595" "1" "00006" "00006" "2022-05-29 12:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000417021" "00415740" "1" "03514" "00006" "2022-08-15 19:59:03" "" "" "SEQ" "DNA" "" "panel MLH1, MSH2, MSH6, PMS2, EPCAM" "0000417023" "00415742" "1" "03514" "00006" "2022-08-15 19:59:03" "" "" "SEQ" "DNA" "" "panel MLH1, MSH2, MSH6, PMS2, EPCAM" "0000431687" "00430273" "1" "01082" "01082" "2023-01-16 17:33:42" "" "" "SEQ-NG" "DNA" "" "" "0000431770" "00430355" "1" "01082" "01082" "2023-01-18 18:25:55" "" "" "SEQ-NG" "DNA" "" "" "0000432981" "00430359" "1" "01082" "01082" "2023-02-14 21:08:38" "" "" "SEQ-NG" "DNA" "" "" "0000432987" "00430363" "1" "01082" "01082" "2023-02-15 00:54:49" "" "" "SEQ-NG" "DNA" "" "" "0000434585" "00432989" "1" "01082" "01082" "2023-02-28 20:16:44" "" "" "SEQ-NG" "DNA" "" "" "0000434589" "00432993" "1" "01082" "01082" "2023-02-28 21:17:47" "" "" "SEQ-NG" "DNA" "" "" "0000434598" "00432999" "1" "01082" "01082" "2023-03-01 13:20:15" "" "" "SEQ-NG" "DNA" "" "" "0000434600" "00433001" "1" "01082" "01082" "2023-03-01 13:48:21" "" "" "SEQ-NG" "DNA" "" "" "0000445203" "00443710" "1" "04599" "04599" "2023-12-01 03:45:19" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000445204" "00443711" "1" "04599" "04599" "2023-12-01 04:10:23" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000445205" "00443712" "1" "04599" "04599" "2023-12-01 04:18:59" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000445206" "00443713" "1" "04599" "04599" "2023-12-01 04:49:41" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000446570" "00445001" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458976" "00457356" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" "0000458977" "00457357" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" "0000458983" "00457363" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" "0000458998" "00457378" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1977 "{{screeningid}}" "{{geneid}}" "0000002932" "MUTYH" "0000003206" "MUTYH" "0000036365" "MUTYH" "0000036366" "MUTYH" "0000036367" "MUTYH" "0000036368" "MUTYH" "0000036369" "MUTYH" "0000036370" "MUTYH" "0000036371" "MUTYH" "0000047989" "MSH6" "0000047989" "MUTYH" "0000107059" "MUTYH" "0000134095" "MUTYH" "0000134096" "APC" "0000134096" "MUTYH" "0000134097" "APC" "0000134097" "MUTYH" "0000189604" "MUTYH" "0000201898" "MSH2" "0000201898" "MSH6" "0000201898" "MUTYH" "0000202898" "MUTYH" "0000203376" "MUTYH" "0000203377" "MUTYH" "0000203378" "MUTYH" "0000203379" "MUTYH" "0000203380" "MUTYH" "0000203381" "MUTYH" "0000203382" "MUTYH" "0000203383" "MUTYH" "0000203384" "MUTYH" "0000203385" "MUTYH" "0000203386" "MUTYH" "0000203387" "MUTYH" "0000203388" "MUTYH" "0000203389" "MUTYH" "0000203390" "MUTYH" "0000203391" "MUTYH" "0000203392" "MUTYH" "0000203393" "MUTYH" "0000203394" "MUTYH" "0000203395" "MUTYH" "0000203396" "MUTYH" "0000203397" "MUTYH" "0000203398" "MUTYH" "0000203399" "MUTYH" "0000203400" "MUTYH" "0000203401" "MUTYH" "0000203402" "MUTYH" "0000203403" "MUTYH" "0000203404" 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"0000358548" "MUTYH" "0000358549" "MUTYH" "0000358550" "MUTYH" "0000358551" "MUTYH" "0000358552" "MUTYH" "0000358553" "MUTYH" "0000358554" "MUTYH" "0000358555" "MUTYH" "0000358556" "MUTYH" "0000358557" "MUTYH" "0000358558" "MUTYH" "0000358559" "MUTYH" "0000358560" "MUTYH" "0000358561" "MUTYH" "0000358562" "MUTYH" "0000358563" "MUTYH" "0000358564" "MUTYH" "0000358565" "MUTYH" "0000358566" "MUTYH" "0000358567" "MUTYH" "0000358568" "MUTYH" "0000358569" "MUTYH" "0000358570" "MUTYH" "0000358571" "MUTYH" "0000358572" "MUTYH" "0000358573" "MUTYH" "0000358574" "MUTYH" "0000358575" "MUTYH" "0000358576" "MUTYH" "0000358577" "MUTYH" "0000358578" "MUTYH" "0000358579" "MUTYH" "0000358580" "MUTYH" "0000358581" "MUTYH" "0000358582" "MUTYH" "0000358583" "MUTYH" "0000358584" "MUTYH" "0000358585" "MUTYH" "0000358586" "MUTYH" "0000358587" "MUTYH" "0000358588" "MUTYH" "0000358589" "MUTYH" "0000358590" "MUTYH" "0000358591" "MUTYH" "0000358592" "MUTYH" "0000358593" "MUTYH" "0000358594" "MUTYH" "0000358595" "MUTYH" "0000358596" "MUTYH" "0000358597" "MUTYH" "0000358598" "MUTYH" "0000358599" "MUTYH" "0000358600" "MUTYH" "0000358601" "MUTYH" "0000358602" "MUTYH" "0000358603" "MUTYH" "0000358604" "MUTYH" "0000358605" "MUTYH" "0000358606" "MUTYH" "0000358607" "MUTYH" "0000358608" "MUTYH" "0000358609" "MUTYH" "0000358610" "MUTYH" "0000358611" "MUTYH" "0000358612" "MUTYH" "0000358613" "MUTYH" "0000358614" "MUTYH" "0000358615" "MUTYH" "0000358616" "MUTYH" "0000358617" "MUTYH" "0000358618" "MUTYH" "0000358619" "MUTYH" "0000358620" "MUTYH" "0000358621" "MUTYH" "0000358622" "MUTYH" "0000358623" "MUTYH" "0000358624" "MUTYH" "0000358625" "MUTYH" "0000358626" "MUTYH" "0000358627" "MUTYH" "0000358628" "MUTYH" "0000358629" "MUTYH" "0000358630" "MUTYH" "0000358631" "MUTYH" "0000358632" "MUTYH" "0000358633" "MUTYH" "0000358634" "MUTYH" "0000358635" "MUTYH" "0000358636" "MUTYH" "0000358637" "MUTYH" "0000358638" "MUTYH" "0000358639" "MUTYH" "0000358640" "MUTYH" "0000358641" "MUTYH" "0000358642" "MUTYH" "0000358643" "MUTYH" "0000358644" "MUTYH" "0000358645" "MUTYH" "0000358646" "MUTYH" "0000358647" "MUTYH" "0000358648" "MUTYH" "0000358649" "MUTYH" "0000358650" "MUTYH" "0000358651" "MUTYH" "0000358652" "MUTYH" "0000358653" "MUTYH" "0000358654" "MUTYH" "0000358655" "MUTYH" "0000358656" "MUTYH" "0000358657" "MUTYH" "0000358658" "MUTYH" "0000358659" "MUTYH" "0000365007" "EYA1" "0000365008" "EYA1" "0000365009" "EYA1" "0000365010" "EYA1" "0000445203" "MUTYH" "0000445204" "MUTYH" "0000445205" "MUTYH" "0000445206" "MUTYH" ## 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 = 3750 "{{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}}" "0000021309" "1" "70" "1" "45797201" "45797201" "subst" "7.32965E-5" "00130" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "only 4 polypoid structures reported." "Unknown" "?" "" "" "" "" "g.45331529G>A" "" "likely pathogenic" "" "0000021310" "2" "70" "1" "45797374" "45797374" "del" "0" "00130" "MUTYH_000069" "g.45797374del" "" "{PMID:Neveling 2013:24123792}" "" "" "only 4 polypoid structures reported." "Unknown" "?" "" "" "" "" "g.45331702del" "" "likely pathogenic" "" "0000021754" "0" "50" "1" "45797228" "45797228" "subst" "0.00295752" "00552" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "VUS" "" "0000063490" "1" "50" "1" "45797846" "45797846" "subst" "0.000455003" "01164" "MUTYH_000019" "g.45797846G>A" "" "" "" "" "PolyPhen-2: (PSIC: 0,2)" "Germline" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000063491" "1" "90" "1" "45799143" "45799143" "subst" "1.21819E-5" "01164" "MUTYH_000266" "g.45799143C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45333471C>T" "" "pathogenic" "" "0000063492" "1" "50" "1" "45797139" "45797139" "subst" "0.000792425" "01164" "MUTYH_000081" "g.45797139G>A" "" "" "" "" "SIFT: Deleteriouse; PolyPhen-2: benign (PSIC: 0,003)" "Germline" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000063493" "1" "90" "1" "45797386" "45797386" "del" "0" "01164" "MUTYH_000334" "g.45797386del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331714del" "" "pathogenic" "" "0000063494" "1" "10" "1" "45796257" "45796257" "subst" "0.000544672" "01164" "MUTYH_000080" "g.45796257C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45330585C>T" "" "benign" "" "0000063495" "1" "10" "1" "45796899" "45796899" "subst" "0.00454804" "01164" "MUTYH_000085" "g.45796899C>G" "frequency up to 5%" "" "" "" "in combination with MUTYH c.1477-28G>A; frequency up to 5%" "Germline" "" "rs74318065" "0" "" "" "g.45331227C>G" "" "benign" "" "0000063496" "1" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "01164" "MUTYH_000016" "g.45798112G>A" "" "" "" "" "c.1187G>A;p.Gly396Asp" "Germline" "" "" "0" "" "" "g.45332440G>A" "" "pathogenic" "" "0000076770" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00727" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Puijenbroek 2007:17039270}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000076771" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00727" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Puijenbroek 2007:17039270}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000172802" "0" "50" "1" "45795040" "45795040" "subst" "6.49704E-5" "02029" "MUTYH_000351" "g.45795040C>A" "" "" "" "g.11103G>T" "" "Germline" "" "" "0" "" "" "g.45329368C>A" "" "VUS" "" "0000223772" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02282" "MUTYH_000018" "g.45797887G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000223773" "0" "90" "1" "45797169" "45797169" "subst" "0" "02282" "MUTYH_000067" "g.45797169G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45331497G>A" "" "pathogenic" "" "0000223774" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "02282" "MUTYH_000051" "g.45798117C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45332445C>T" "" "pathogenic" "" "0000223775" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02282" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000223776" "0" "90" "1" "45798118" "45798118" "subst" "0" "02282" "MUTYH_000322" "g.45798118G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45332446G>T" "" "pathogenic" "" "0000223777" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02282" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000255175" "0" "30" "1" "45796215" "45796215" "subst" "0" "01943" "MUTYH_000337" "g.45796215A>G" "" "" "" "MUTYH(NM_001128425.1):c.1491T>C (p.Y497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45330543A>G" "" "likely benign" "" "0000255672" "0" "90" "1" "45797534" "45797534" "subst" "0" "01943" "MUTYH_000101" "g.45797534A>C" "" "" "" "MUTYH(NM_001128425.1):c.998-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331862A>C" "" "pathogenic" "" "0000280180" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "02330" "MUTYH_000063" "g.45797505C>G" "" "" "" "MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000280181" "0" "70" "1" "45797481" "45797481" "subst" "4.62033E-5" "02330" "MUTYH_000064" "g.45797481C>T" "" "" "" "MUTYH(NM_001128425.2):c.1038G>A (p.S346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331809C>T" "" "likely pathogenic" "" "0000280182" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02330" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000280184" "0" "30" "1" "45797139" "45797139" "subst" "0.000792425" "02330" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331467G>A" "" "likely benign" "" "0000280185" "0" "30" "1" "45796899" "45796899" "subst" "0.00454804" "02330" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331227C>G" "" "likely benign" "" "0000280186" "0" "30" "1" "45795091" "45795091" "subst" "8.12348E-6" "02330" "MUTYH_000336" "g.45795091C>A" "" "" "" "MUTYH(NM_001128425.2):c.1537G>T (p.V513L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329419C>A" "" "likely benign" "" "0000280187" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "02330" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000280188" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "02330" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000280189" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "02330" "MUTYH_000007" "g.45799120C>T" "" "" "" "MUTYH(NM_001128425.1):c.313G>A (p.D105N), MUTYH(NM_001128425.2):c.313G>A (p.D105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333448C>T" "" "VUS" "" "0000280190" "0" "10" "1" "45799074" "45799074" "subst" "0.00166508" "02330" "MUTYH_000108" "g.45799074C>T" "" "" "" "MUTYH(NM_001048171.1):c.306+11G>A (p.(=)), MUTYH(NM_001128425.2):c.348+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333402C>T" "" "benign" "" "0000280191" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02330" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000280192" "0" "30" "1" "45800167" "45800167" "subst" "0.00103553" "02330" "MUTYH_000024" "g.45800167G>A" "" "" "" "MUTYH(NM_001048174.2):c.11C>T (p.(Pro4Leu)), MUTYH(NM_001128425.1):c.53C>T (p.P18L), MUTYH(NM_001128425.2):c.53C>T (p.P18L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45334495G>A" "" "likely benign" "" "0000280193" "0" "30" "1" "45798232" "45798232" "subst" "6.5019E-5" "02330" "MUTYH_000013" "g.45798232G>C" "" "" "" "MUTYH(NM_001128425.2):c.690+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332560G>C" "" "likely benign" "" "0000280194" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "02330" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332440G>A" "" "pathogenic" "" "0000280195" "0" "30" "1" "45800146" "45800146" "subst" "0.00103547" "02330" "MUTYH_000026" "g.45800146C>T" "" "" "" "MUTYH(NM_001048174.2):c.32G>A (p.(Gly11Asp)), MUTYH(NM_001128425.1):c.74G>A (p.G25D), MUTYH(NM_001128425.2):c.74G>A (p.G25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45334474C>T" "" "likely benign" "" "0000280196" "0" "30" "1" "45798085" "45798085" "subst" "0" "02330" "MUTYH_000349" "g.45798085T>C" "" "" "" "MUTYH(NM_001128425.2):c.766A>G (p.T256A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332413T>C" "" "likely benign" "" "0000280197" "0" "30" "1" "45797890" "45797890" "subst" "4.87769E-5" "02330" "MUTYH_000348" "g.45797890C>T" "" "" "" "MUTYH(NM_001128425.2):c.881G>A (p.R294H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332218C>T" "" "likely benign" "" "0000280198" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02330" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000282699" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "02325" "MUTYH_000063" "g.45797505C>G" "" "" "" "MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000282700" "0" "90" "1" "45797374" "45797374" "del" "0" "02325" "MUTYH_000344" "g.45797374del" "" "" "" "MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000282701" "0" "30" "1" "45797324" "45797324" "subst" "0.000110063" "02325" "MUTYH_000238" "g.45797324T>A" "" "" "" "MUTYH(NM_001128425.2):c.1186+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331652T>A" "" "likely benign" "" "0000282702" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02325" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000282703" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02325" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000282704" "0" "30" "1" "45797165" "45797165" "subst" "2.03303E-5" "02325" "MUTYH_000340" "g.45797165C>T" "" "" "" "MUTYH(NM_001128425.2):c.1250G>A (p.R417H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331493C>T" "" "likely benign" "" "0000282705" "0" "10" "1" "45796883" "45796883" "subst" "0" "02325" "MUTYH_000338" "g.45796883T>G" "" "" "" "MUTYH(NM_001128425.2):c.1447A>C (p.T483P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331211T>G" "" "benign" "" "0000282706" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "02325" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000282707" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "02325" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000282708" "0" "10" "1" "45805566" "45805566" "subst" "0.989658" "02325" "MUTYH_000004" "g.45805566G>C" "" "" "" "MUTYH(NM_001128425.2):c.36+325C>G, TOE1(NM_025077.4):c.-359G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45339894G>C" "" "benign" "" "0000282709" "0" "50" "1" "45798613" "45798613" "subst" "8.56437E-5" "02325" "MUTYH_000225" "g.45798613C>G" "" "" "" "MUTYH(NM_001048171.1):c.439G>C (p.(Asp147His)), MUTYH(NM_001128425.2):c.481G>C (p.D161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332941C>G" "" "VUS" "" "0000282710" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02325" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000282711" "0" "50" "1" "45800156" "45800156" "subst" "0" "02325" "MUTYH_000359" "g.45800156C>A" "" "" "" "MUTYH(NM_001128425.2):c.64G>T (p.V22L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45334484C>A" "" "VUS" "" "0000282712" "0" "30" "1" "45798232" "45798232" "subst" "6.5019E-5" "02325" "MUTYH_000013" "g.45798232G>C" "" "" "" "MUTYH(NM_001128425.2):c.690+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332560G>C" "" "likely benign" "" "0000283753" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02329" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000283754" "0" "30" "1" "45796937" "45796937" "subst" "6.90299E-5" "02329" "MUTYH_000339" "g.45796937G>C" "" "" "" "MUTYH(NM_001128425.2):c.1393C>G (p.P465A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331265G>C" "" "likely benign" "" "0000283755" "0" "10" "1" "45796899" "45796899" "subst" "0.00454804" "02329" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331227C>G" "" "benign" "" "0000283756" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "02329" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000283757" "0" "30" "1" "45795028" "45795028" "subst" "4.06062E-6" "02329" "MUTYH_000335" "g.45795028G>A" "" "" "" "MUTYH(NM_001128425.2):c.1600C>T (p.R534W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329356G>A" "" "likely benign" "" "0000283758" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "02329" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000283759" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02329" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000283760" "0" "30" "1" "45798232" "45798232" "subst" "6.5019E-5" "02329" "MUTYH_000013" "g.45798232G>C" "" "" "" "MUTYH(NM_001128425.2):c.690+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332560G>C" "" "likely benign" "" "0000283761" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02329" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000286716" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02326" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000292215" "0" "30" "1" "45797519" "45797519" "subst" "1.33412E-5" "01943" "MUTYH_000327" "g.45797519G>C" "" "" "" "MUTYH(NM_001048171.1):c.958C>G (p.(Pro320Ala)), MUTYH(NM_001128425.1):c.1000C>G (p.P334A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331847G>C" "" "likely benign" "" "0000292216" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "01943" "MUTYH_000063" "g.45797505C>G" "" "" "" "MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000292217" "0" "90" "1" "45797374" "45797374" "del" "0" "01943" "MUTYH_000069" "g.45797374del" "" "" "" "MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000292218" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01943" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000292219" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "01943" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000292221" "0" "50" "1" "45797174" "45797174" "subst" "0" "01943" "MUTYH_000079" "g.45797174T>C" "" "" "" "MUTYH(NM_001128425.1):c.1241A>G (p.Q414R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331502T>C" "" "VUS" "" "0000292222" "0" "10" "1" "45796899" "45796899" "subst" "0.00454804" "01943" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331227C>G" "" "benign" "" "0000292223" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "01943" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000292224" "0" "10" "1" "45800033" "45800033" "subst" "0.0238208" "01943" "MUTYH_000006" "g.45800033T>C" "" "" "" "MUTYH(NM_001128425.1):c.157+30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45334361T>C" "" "benign" "" "0000292225" "0" "30" "1" "45799266" "45799266" "subst" "8.21241E-6" "01943" "MUTYH_000357" "g.45799266C>A" "" "" "" "MUTYH(NM_001128425.1):c.167G>T (p.G56V), MUTYH(NM_001128425.2):c.167G>T (p.G56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333594C>A" "" "likely benign" "" "0000292226" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "01943" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000292227" "0" "10" "1" "45798510" "45798510" "subst" "0.00123864" "01943" "MUTYH_000242" "g.45798510T>C" "" "" "" "MUTYH(NM_001128425.1):c.505-4A>G, MUTYH(NM_001128425.2):c.505-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332838T>C" "" "benign" "" "0000292228" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01943" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000292229" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "01943" "MUTYH_000045" "g.45798269T>C" "" "" "" "MUTYH(NM_001128425.1):c.667A>G (p.I223V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000292230" "0" "10" "1" "45798225" "45798225" "subst" "0.00721521" "01943" "MUTYH_000070" "g.45798225G>T" "" "" "" "MUTYH(NM_001128425.1):c.690+21C>A, MUTYH(NM_001128425.2):c.690+21C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332553G>T" "" "benign" "" "0000292231" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "01943" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332440G>A" "" "pathogenic" "" "0000292232" "0" "90" "1" "45800129" "45800129" "del" "2.03039E-5" "01943" "MUTYH_000116" "g.45800129del" "" "" "" "MUTYH(NM_001128425.1):c.91delG (p.A31Pfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45334457del" "" "pathogenic" "" "0000292233" "0" "50" "1" "45797548" "45797548" "subst" "0.00119508" "01943" "MUTYH_000137" "g.45797548C>T" "" "" "" "MUTYH(NM_001128425.1):c.998-27G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331876C>T" "" "VUS" "" "0000309372" "0" "10" "1" "45805880" "45805880" "subst" "0.00332968" "02330" "MUTYH_000003" "g.45805880G>A" "" "" "" "MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, MUTYH(NM_001128425.2):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45340208G>A" "" "benign" "" "0000320790" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "01804" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000320791" "0" "50" "1" "45798115" "45798115" "subst" "5.70395E-5" "01804" "MUTYH_000053" "g.45798115C>A" "" "" "" "MUTYH(NM_001128425.1):c.736G>T (p.(Val246Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332443C>A" "" "VUS" "" "0000320794" "0" "10" "1" "45800156" "45800156" "subst" "0.0487424" "01804" "MUTYH_000005" "g.45800156C>T" "" "" "" "MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45334484C>T" "" "benign" "" "0000336858" "0" "10" "1" "45805880" "45805880" "subst" "0.00332968" "02327" "MUTYH_000003" "g.45805880G>A" "" "" "" "MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, MUTYH(NM_001128425.2):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45340208G>A" "" "benign" "" "0000338128" "0" "10" "1" "45797255" "45797255" "subst" "0.0036991" "02327" "MUTYH_000104" "g.45797255G>A" "" "" "" "MUTYH(NM_001128425.2):c.1187-27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331583G>A" "" "benign" "" "0000338129" "0" "30" "1" "45797548" "45797548" "subst" "0.00119508" "02327" "MUTYH_000137" "g.45797548C>T" "" "" "" "MUTYH(NM_001128425.1):c.998-27G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331876C>T" "" "likely benign" "" "0000338130" "0" "30" "1" "45798232" "45798232" "subst" "6.5019E-5" "02327" "MUTYH_000013" "g.45798232G>C" "" "" "" "MUTYH(NM_001128425.2):c.690+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332560G>C" "" "likely benign" "" "0000338131" "0" "10" "1" "45798555" "45798555" "subst" "0.926147" "02327" "MUTYH_000010" "g.45798555T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332883T>C" "" "benign" "" "0000338132" "0" "10" "1" "45800033" "45800033" "subst" "0.0238208" "02327" "MUTYH_000006" "g.45800033T>C" "" "" "" "MUTYH(NM_001128425.1):c.157+30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45334361T>C" "" "benign" "" "0000338133" "0" "10" "1" "45806053" "45806053" "subst" "0" "02327" "MUTYH_000002" "g.45806053G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45340381G>A" "" "benign" "" "0000338134" "0" "30" "1" "45806103" "45806103" "subst" "0" "02327" "MUTYH_000001" "g.45806103A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45340431A>G" "" "likely benign" "" "0000340114" "0" "30" "1" "45796899" "45796899" "subst" "0.00454804" "02327" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331227C>G" "" "likely benign" "" "0000340115" "0" "30" "1" "45798104" "45798104" "subst" "0" "02327" "MUTYH_000350" "g.45798104A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332432A>G" "" "likely benign" "" "0000340116" "0" "30" "1" "45798155" "45798155" "subst" "2.03533E-5" "02327" "MUTYH_000352" "g.45798155G>A" "" "" "" "MUTYH(NM_001128425.1):c.696C>T (p.T232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332483G>A" "" "likely benign" "" "0000340117" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "02327" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000340775" "0" "30" "1" "45798778" "45798778" "subst" "4.06072E-6" "02327" "MUTYH_000355" "g.45798778T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333106T>C" "" "likely benign" "" "0000341281" "0" "50" "1" "45798257" "45798257" "subst" "3.65649E-5" "02327" "MUTYH_000353" "g.45798257C>T" "" "" "" "MUTYH(NM_001128425.2):c.679G>A (p.A227T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332585C>T" "" "VUS" "" "0000341282" "0" "50" "1" "45798256" "45798256" "subst" "0" "02327" "MUTYH_000185" "g.45798256G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332584G>A" "" "VUS" "" "0000341712" "0" "90" "1" "45799108" "45799108" "subst" "3.65473E-5" "02327" "MUTYH_000008" "g.45799108G>A" "" "" "" "MUTYH(NM_001128425.1):c.325C>T (p.R109W), MUTYH(NM_001128425.2):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333436G>A" "" "pathogenic" "" "0000342380" "0" "90" "1" "45798129" "45798129" "subst" "2.85074E-5" "02327" "MUTYH_000166" "g.45798129C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332457C>T" "" "pathogenic" "" "0000342600" "0" "30" "1" "45797846" "45797846" "subst" "0.000455003" "02327" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332174G>A" "" "likely benign" "" "0000342879" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02327" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000343057" "0" "30" "1" "45795061" "45795061" "subst" "8.1217E-5" "02327" "MUTYH_000215" "g.45795061G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329389G>A" "" "likely benign" "" "0000343516" "0" "50" "1" "45807192" "45807192" "subst" "1.21897E-5" "02327" "TOE1_000002" "g.45807192G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45341520G>A" "" "VUS" "" "0000343945" "0" "70" "1" "45798613" "45798613" "subst" "8.56437E-5" "02327" "MUTYH_000225" "g.45798613C>G" "" "" "" "MUTYH(NM_001048171.1):c.439G>C (p.(Asp147His)), MUTYH(NM_001128425.2):c.481G>C (p.D161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332941C>G" "" "likely pathogenic" "" "0000344774" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "02327" "MUTYH_000063" "g.45797505C>G" "" "" "" "MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000344811" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02327" "MUTYH_000072" "g.45797348G>A" "" "" "" "MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377Ter)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000345452" "0" "90" "1" "45796895" "45796897" "del" "0" "02327" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000346052" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02327" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000348433" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02327" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000348923" "0" "50" "1" "45808673" "45808673" "subst" "0" "02327" "TOE1_000003" "g.45808673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45343001C>T" "" "VUS" "" "0000349069" "0" "30" "1" "45795084" "45795084" "subst" "0.00839094" "02327" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "likely benign" "" "0000349958" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02327" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000350410" "0" "10" "1" "45800156" "45800156" "subst" "0.0487424" "02327" "MUTYH_000005" "g.45800156C>T" "" "" "" "MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45334484C>T" "" "benign" "" "0000351212" "0" "10" "1" "45796269" "45796269" "subst" "0.924515" "02327" "MUTYH_000106" "g.45796269G>C" "" "" "" "MUTYH(NM_001128425.1):c.1477-40C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45330597G>C" "" "benign" "" "0000351213" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02327" "MUTYH_000097" "g.45797835T>G" "" "" "" "MUTYH(NM_001128425.2):c.933+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000359376" "1" "50" "1" "45806053" "45806053" "subst" "0" "01873" "MUTYH_000002" "g.45806053G>A" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000359377" "3" "90" "1" "45797374" "45797374" "subst" "0" "01873" "MUTYH_000345" "g.45797374G>T" "" "contributed by Dept. of Dr Vaccaro" "" "1145G>A (Gly382Asp)" "" "Germline" "" "" "0" "" "" "g.45331702G>T" "" "pathogenic" "" "0000359379" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359380" "1" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359381" "1" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359382" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359383" "1" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359384" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359385" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359386" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359387" "1" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359388" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359389" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359390" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359391" "1" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359392" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359393" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359394" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359395" "1" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359396" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359397" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359398" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359399" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359400" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359401" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359402" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359403" "1" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359404" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359405" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359406" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359407" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359408" "1" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359409" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359410" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359411" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359412" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359413" "3" "50" "1" "45796935" "45796935" "subst" "0" "01873" "MUTYH_000343" "g.45796935G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359414" "1" "30" "1" "45795098" "45795098" "subst" "4.06362E-6" "01873" "MUTYH_000343" "g.45795098C>T" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45329426C>T" "" "likely benign" "" "0000359415" "1" "10" "1" "45800033" "45800033" "subst" "0.0238208" "01873" "MUTYH_000006" "g.45800033T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45334361T>C" "" "benign" "" "0000359417" "1" "50" "1" "45799121" "45799121" "subst" "0.00142938" "01873" "MUTYH_000031" "g.45799121G>A" "" "contributed by Dept. of Dr Vaccaro" "" "270C>T (Tyr104=)" "" "Germline" "" "" "0" "" "" "g.45333449G>A" "" "VUS" "" "0000359418" "1" "50" "1" "45800108" "45800108" "subst" "0" "01873" "MUTYH_000358" "g.45800108G>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359419" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359420" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359421" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359422" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359423" "1" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359424" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359425" "1" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359426" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359427" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359428" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359429" "1" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359430" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359431" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359432" "1" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359433" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359434" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359435" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359436" "1" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359437" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359438" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359439" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359440" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359441" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359442" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359443" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359444" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359445" "1" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359446" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359447" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359448" "1" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359449" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359450" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359451" "1" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359452" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359453" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359454" "3" "10" "1" "45798734" "45798734" "subst" "0" "01873" "MUTYH_000354" "g.45798734T>C" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000359455" "1" "50" "1" "45797890" "45797890" "subst" "0" "01873" "MUTYH_000347" "g.45797890C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000359456" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359457" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359458" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359459" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359460" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359461" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359462" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359463" "3" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359464" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359465" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359466" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359467" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359468" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359469" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359470" "1" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000359471" "3" "10" "1" "45797720" "45797720" "subst" "1.21836E-5" "01873" "MUTYH_000346" "g.45797720C>G" "" "contributed by Dept. of Dr Vaccaro" "" "" "" "Germline" "" "" "0" "" "" "g.45332048C>G" "" "benign" "" "0000367861" "0" "50" "1" "45806103" "45806103" "subst" "0" "00770" "MUTYH_000001" "g.45806103G>A" "" "DUPLICATE – to be removed" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000367862" "0" "50" "1" "45806053" "45806053" "subst" "0" "00770" "MUTYH_000002" "g.45806053G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000367863" "0" "50" "1" "45805880" "45805880" "subst" "0.00332968" "00770" "MUTYH_000003" "g.45805880G>A" "" "DUPLICATE – to be removed" "" "IVS1+11C>T" "" "Germline" "" "" "0" "" "" "g.45340208G>A" "" "VUS" "" "0000367864" "0" "50" "1" "45805566" "45805566" "subst" "0" "00770" "MUTYH_000004" "g.45805566C>G" "" "DUPLICATE – to be removed" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000367865" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "00770" "MUTYH_000005" "g.45800156C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000367866" "0" "50" "1" "45800033" "45800033" "subst" "0.0238208" "00770" "MUTYH_000006" "g.45800033T>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000367867" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "00770" "MUTYH_000007" "g.45799120C>T" "" "DUPLICATE – to be removed" "" "271G>A (Asp91Asn)" "" "Germline" "" "" "0" "" "" "g.45333448C>T" "" "VUS" "" "0000367868" "0" "70" "1" "45799108" "45799108" "subst" "3.65473E-5" "00770" "MUTYH_000008" "g.45799108G>A" "" "DUPLICATE – to be removed" "" "283C>T (Arg95Trp)" "" "Germline" "" "" "0" "" "" "g.45333436G>A" "" "likely pathogenic" "" "0000367869" "0" "50" "1" "45798901" "45798901" "subst" "0" "00770" "MUTYH_000009" "g.45798901C>T" "" "DUPLICATE – to be removed" "" "346+56G>A" "" "Germline" "" "" "0" "" "" "g.45333229C>T" "" "VUS" "" "0000367870" "0" "50" "1" "45798555" "45798555" "subst" "0" "00770" "MUTYH_000010" "g.45798555C>T" "" "DUPLICATE – to be removed" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000367871" "0" "50" "1" "45805982" "45805982" "subst" "0" "00770" "MUTYH_000011" "g.45805982C>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45340310C>G" "" "VUS" "" "0000367872" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00770" "MUTYH_000012" "g.45798475T>C" "" "DUPLICATE – to be removed" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000367873" "0" "50" "1" "45798232" "45798232" "subst" "6.5019E-5" "00770" "MUTYH_000013" "g.45798232G>C" "" "DUPLICATE – to be removed" "" "648+14C>G" "" "Germline" "" "" "0" "" "" "g.45332560G>C" "" "VUS" "" "0000367874" "0" "50" "1" "45798161" "45798161" "subst" "0" "00770" "MUTYH_000014" "g.45798161C>T" "" "DUPLICATE – to be removed" "" "649-1G>A (Ala217GlyfsX65)" "" "Germline" "" "" "0" "" "" "g.45332489C>T" "" "VUS" "" "0000367875" "0" "50" "1" "45798225" "45798225" "subst" "8.12982E-6" "00770" "MUTYH_000015" "g.45798225G>A" "" "DUPLICATE – to be removed" "" "648+21C>T" "" "Germline" "" "" "0" "" "" "g.45332553G>A" "" "VUS" "" "0000367876" "0" "70" "1" "45798112" "45798112" "subst" "4.08383E-6" "00770" "MUTYH_000016" "g.45798112G>A" "" "DUPLICATE – to be removed" "" "697C>T (Arg233X)" "" "Germline" "" "" "0" "" "" "g.45332440G>A" "" "likely pathogenic" "" "0000367877" "0" "50" "1" "45797924" "45797924" "subst" "4.06964E-6" "00770" "MUTYH_000017" "g.45797924T>C" "" "DUPLICATE – to be removed" "" "805A>G (Met269Val)" "" "Germline" "" "" "0" "" "" "g.45332252T>C" "" "VUS" "" "0000367878" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "00770" "MUTYH_000018" "g.45797887G>A" "" "DUPLICATE – to be removed" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000367879" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "00770" "MUTYH_000019" "g.45797846G>A" "" "DUPLICATE – to be removed" "" "Arg295Cys; R281C" "" "Germline" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000367880" "0" "50" "1" "45805816" "45805816" "subst" "0" "00770" "MUTYH_000020" "g.45805816G>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219467" "0" "" "" "g.45340144G>C" "" "VUS" "" "0000367881" "0" "70" "1" "45797230" "45797230" "subst" "2.04017E-5" "00770" "MUTYH_000022" "g.45797230T>C" "" "DUPLICATE – to be removed" "" "1145-2A>G (Leu383CysfsX89)" "" "Germline" "" "" "0" "" "" "g.45331558T>C" "" "likely pathogenic" "" "0000367882" "0" "50" "1" "45800181" "45800181" "subst" "0" "00770" "MUTYH_000023" "g.45800181G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334509G>A" "" "VUS" "" "0000367883" "0" "50" "1" "45800167" "45800167" "subst" "0.00103553" "00770" "MUTYH_000024" "g.45800167G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000367884" "0" "50" "1" "45799122" "45799122" "subst" "0" "00770" "MUTYH_000025" "g.45799122T>C" "" "DUPLICATE – to be removed" "" "269A>G (Tyr90Cys)" "" "Germline" "" "" "0" "" "" "g.45333450T>C" "" "VUS" "" "0000367885" "0" "50" "1" "45800146" "45800146" "subst" "0.00103547" "00770" "MUTYH_000026" "g.45800146C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000367886" "0" "90" "1" "45799192" "45799193" "del" "0" "00770" "MUTYH_000027" "g.45799192_45799193del" "" "DUPLICATE – to be removed" "" "199_200del; 199GT (Val67LeufsX11)" "" "Germline" "" "" "0" "" "" "g.45333520_45333521del" "" "pathogenic" "" "0000367887" "0" "50" "1" "45799209" "45799209" "subst" "0" "00770" "MUTYH_000028" "g.45799209A>T" "" "DUPLICATE – to be removed" "" "182T>A (Val61Glu)" "" "Germline" "" "" "0" "" "" "g.45333537A>T" "" "VUS" "" "0000367888" "0" "70" "1" "45799144" "45799144" "subst" "1.21819E-5" "00770" "MUTYH_000029" "g.45799144G>A" "" "DUPLICATE – to be removed" "" "247C>T (Arg83X)" "" "Germline" "" "" "0" "" "" "g.45333472G>A" "" "likely pathogenic" "" "0000367889" "0" "70" "1" "45799141" "45799141" "del" "0" "00770" "MUTYH_000030" "g.45799141del" "" "DUPLICATE – to be removed" "" "252del (Ser85AlafsX3)" "" "Germline" "" "" "0" "" "" "g.45333469del" "" "likely pathogenic" "" "0000367890" "0" "50" "1" "45799121" "45799121" "subst" "0.00142938" "00770" "MUTYH_000031" "g.45799121G>A" "" "DUPLICATE – to be removed" "" "270C>T" "" "Germline" "" "" "0" "" "" "g.45333449G>A" "" "VUS" "" "0000367891" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "00770" "MUTYH_000032" "g.45799121G>T" "" "DUPLICATE – to be removed" "" "Tyr90*; Y90*" "" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000367892" "0" "50" "1" "45798963" "45798963" "subst" "0" "00770" "MUTYH_000033" "g.45798963A>G" "" "DUPLICATE – to be removed" "" "340T>C (Tyr114His)" "" "Germline" "" "" "0" "" "" "g.45333291A>G" "" "VUS" "" "0000367893" "0" "50" "1" "45798840" "45798840" "subst" "4.06184E-6" "00770" "MUTYH_000034" "g.45798840A>T" "" "DUPLICATE – to be removed" "" "349T>A (Trp117Arg)" "" "Germline" "" "" "0" "" "" "g.45333168A>T" "" "VUS" "" "0000367894" "0" "50" "1" "45798461" "45798461" "subst" "1.21818E-5" "00770" "MUTYH_000035" "g.45798461G>A" "" "DUPLICATE – to be removed" "" "508C>T (Arg170Trp)" "" "Germline" "" "" "0" "" "" "g.45332789G>A" "" "VUS" "" "0000367895" "0" "50" "1" "45797967" "45797967" "subst" "0" "00770" "MUTYH_000036" "g.45797967C>T" "" "DUPLICATE – to be removed" "" "762G>A (Gln254Gln)" "" "Germline" "" "" "0" "" "" "g.45332295C>T" "" "VUS" "" "0000367896" "0" "70" "1" "45798773" "45798778" "dup" "0" "00770" "MUTYH_000037" "g.45798773_45798778dup" "" "DUPLICATE – to be removed" "" "411_416dup; 411dupATGGAT (Trp138_Met139insIleTrp)" "" "Germline" "" "" "0" "" "" "g.45333101_45333106dup" "" "likely pathogenic" "" "0000367897" "0" "50" "1" "45798624" "45798624" "subst" "0" "00770" "MUTYH_000038" "g.45798624G>A" "" "DUPLICATE – to be removed" "" "428C>T (Pro143Leu)" "" "Germline" "" "" "0" "" "" "g.45332952G>A" "" "VUS" "" "0000367898" "0" "50" "1" "45810091" "45810091" "subst" "0" "00770" "MUTYH_000039" "g.45810091A>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000367899" "0" "50" "1" "45798467" "45798467" "subst" "4.06055E-6" "00770" "MUTYH_000040" "g.45798467G>A" "" "DUPLICATE – to be removed" "" "502C>T (Arg168Cys)" "" "Germline" "" "" "0" "" "" "g.45332795G>A" "" "VUS" "" "0000367900" "0" "50" "1" "45798466" "45798466" "subst" "8.12123E-6" "00770" "MUTYH_000041" "g.45798466C>T" "" "DUPLICATE – to be removed" "" "503G>A (Arg168His)" "" "Germline" "" "" "0" "" "" "g.45332794C>T" "" "VUS" "" "0000367901" "0" "90" "1" "45798445" "45798445" "subst" "4.06055E-6" "00770" "MUTYH_000042" "g.45798445C>T" "" "DUPLICATE – to be removed" "" "524G>A (Gly175Glu); G175E" "" "Germline" "" "" "0" "" "" "g.45332773C>T" "" "pathogenic" "" "0000367902" "0" "90" "1" "45798145" "45798145" "subst" "0" "00770" "MUTYH_000043" "g.45798145C>T" "" "DUPLICATE – to be removed" "" "Asp222Asn, D208N" "" "Germline" "" "" "0" "" "" "g.45332473C>T" "" "pathogenic" "" "0000367903" "0" "50" "1" "45797506" "45797506" "subst" "0.00014449" "00770" "MUTYH_000044" "g.45797506T>C" "" "DUPLICATE – to be removed" "" "Gln324Arg" "" "Germline" "" "" "0" "" "" "g.45331834T>C" "" "VUS" "" "0000367904" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "00770" "MUTYH_000045" "g.45798269T>C" "" "DUPLICATE – to be removed" "" "625A>G (Ile209Val)" "" "Germline" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000367905" "0" "50" "1" "45798260" "45798260" "subst" "4.062E-6" "00770" "MUTYH_000046" "g.45798260T>C" "" "DUPLICATE – to be removed" "" "634A>G (Ile212Val)" "" "Germline" "" "" "0" "" "" "g.45332588T>C" "" "VUS" "" "0000367906" "0" "50" "1" "45798151" "45798151" "subst" "8.13968E-5" "00770" "MUTYH_000047" "g.45798151C>T" "" "DUPLICATE – to be removed" "" "658G>A (Val220Met)" "" "Germline" "" "" "0" "" "" "g.45332479C>T" "" "VUS" "" "0000367907" "0" "50" "1" "45798137" "45798137" "subst" "1.22122E-5" "00770" "MUTYH_000048" "g.45798137G>A" "" "DUPLICATE – to be removed" "" "672C>T (Asn224Asn)" "" "Germline" "" "" "0" "" "" "g.45332465G>A" "" "VUS" "" "0000367908" "0" "50" "1" "45798440" "45798440" "subst" "1.21818E-5" "00770" "MUTYH_000049" "g.45798440G>A" "" "DUPLICATE – to be removed" "" "529C>T (Arg177Trp)" "" "Germline" "" "" "0" "" "" "g.45332768G>A" "" "VUS" "" "0000367909" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "00770" "MUTYH_000050" "g.45798130G>A" "" "DUPLICATE – to be removed" "" "679C>T (Arg227Trp)" "" "Germline" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "pathogenic" "" "0000367910" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00770" "MUTYH_000051" "g.45798117C>T" "" "DUPLICATE – to be removed" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000367911" "0" "70" "1" "45798117" "45798117" "subst" "0" "00770" "MUTYH_000052" "g.45798117C>A" "" "DUPLICATE – to be removed" "" "692G>T (Arg231Leu)" "" "Germline" "" "" "0" "" "" "g.45332445C>A" "" "likely pathogenic" "" "0000367912" "0" "90" "1" "45798115" "45798115" "subst" "5.70395E-5" "00770" "MUTYH_000053" "g.45798115C>A" "" "DUPLICATE – to be removed" "" "694G>T (Val232Phe)" "" "Germline" "" "" "0" "" "" "g.45332443C>A" "" "pathogenic" "" "0000367913" "0" "50" "1" "45797951" "45797951" "subst" "8.16247E-6" "00770" "MUTYH_000054" "g.45797951G>A" "" "DUPLICATE – to be removed" "" "778C>T (Arg260Trp)" "" "Germline" "" "" "0" "" "" "g.45332279G>A" "" "VUS" "" "0000367914" "0" "50" "1" "45797950" "45797950" "subst" "0.000171457" "00770" "MUTYH_000055" "g.45797950C>T" "" "DUPLICATE – to be removed" "" "Arg260Gln; R260Q" "" "Germline" "" "" "0" "" "" "g.45332278C>T" "" "VUS" "" "0000367915" "0" "90" "1" "45797942" "45797947" "dup" "0" "00770" "MUTYH_000056" "g.45797942_45797947dup" "" "DUPLICATE – to be removed" "" "782_787dup; 782_787dupCAGGAG; (Gly262_Asp263insAlaGly); p263insAG" "" "Germline" "" "" "0" "" "" "g.45332270_45332275dup" "" "pathogenic" "" "0000367916" "0" "70" "1" "45796890" "45796892" "del" "0" "00770" "MUTYH_000057" "g.45796890_45796892del" "" "DUPLICATE – to be removed" "" "1394_1396del; 1391delAGG (Glu466del)" "" "Germline" "" "" "0" "" "" "g.45331218_45331220del" "" "likely pathogenic" "" "0000367917" "0" "50" "1" "45797902" "45797902" "subst" "0" "00770" "MUTYH_000058" "g.45797902C>T" "" "DUPLICATE – to be removed" "" "827G>A (Cys276Trp)" "" "Germline" "" "" "0" "" "" "g.45332230C>T" "" "VUS" "" "0000367918" "0" "50" "1" "45796865" "45796865" "subst" "3.65515E-5" "00770" "MUTYH_000059" "g.45796865C>T" "" "DUPLICATE – to be removed" "" "1423G>A; G1423A (Ala475Thr); A475T" "" "Germline" "" "" "0" "" "" "g.45331193C>T" "" "VUS" "" "0000367919" "0" "50" "1" "45799124" "45799124" "subst" "4.06062E-6" "00770" "MUTYH_000060" "g.45799124C>T" "" "DUPLICATE – to be removed" "" "267G>A; G267A (Trp89X); W98X" "" "Germline" "" "" "0" "" "" "g.45333452C>T" "" "VUS" "" "0000367920" "0" "70" "1" "45798812" "45798812" "del" "0" "00770" "MUTYH_000061" "g.45798812del" "" "DUPLICATE – to be removed" "" "379delC (Gln127ArgfsX5)" "" "Germline" "" "" "0" "" "" "g.45333140del" "" "likely pathogenic" "" "0000367921" "0" "90" "1" "45797507" "45797507" "subst" "6.56846E-5" "00770" "MUTYH_000062" "g.45797507G>A" "" "DUPLICATE – to be removed" "" "970C>T (Gln324X)" "" "Germline" "" "" "0" "" "" "g.45331835G>A" "" "pathogenic" "" "0000367922" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00770" "MUTYH_000063" "g.45797505C>G" "" "DUPLICATE – to be removed" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000367923" "0" "70" "1" "45797481" "45797481" "subst" "4.62033E-5" "00770" "MUTYH_000064" "g.45797481C>T" "" "DUPLICATE – to be removed" "" "996G>A; G996A (Ser332Ser)" "" "Germline" "" "" "0" "" "" "g.45331809C>T" "" "likely pathogenic" "" "0000367924" "0" "70" "1" "45797423" "45797423" "dup" "0" "00770" "MUTYH_000065" "g.45797423dup" "" "DUPLICATE – to be removed" "" "1059dupC (Arg354GlnfsX164)" "" "Germline" "" "" "0" "" "" "g.45331751dup" "" "likely pathogenic" "" "0000367925" "0" "50" "1" "45798472" "45798472" "subst" "0" "00770" "MUTYH_000066" "g.45798472T>G" "" "DUPLICATE – to be removed" "" "497A>C (Tyr166Ser)" "" "Germline" "" "" "0" "" "" "g.45332800T>G" "" "VUS" "" "0000367926" "0" "70" "1" "45797169" "45797169" "subst" "0" "00770" "MUTYH_000067" "g.45797169G>A" "" "DUPLICATE – to be removed" "" "1204C>T (Gln402X)" "" "Germline" "" "" "0" "" "" "g.45331497G>A" "" "likely pathogenic" "" "0000367927" "0" "50" "1" "45797381" "45797381" "subst" "0" "00770" "MUTYH_000068" "g.45797381G>T" "" "DUPLICATE – to be removed" "" "1096C>A (Pro366Thr)" "" "Germline" "" "" "0" "" "" "g.45331709G>T" "" "VUS" "" "0000367928" "0" "90" "1" "45797374" "45797374" "del" "0" "00770" "MUTYH_000069" "g.45797374del" "" "DUPLICATE – to be removed" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000367929" "0" "50" "1" "45798225" "45798225" "subst" "0.00721521" "00770" "MUTYH_000070" "g.45798225G>T" "" "DUPLICATE – to be removed" "" "648+21C>A" "" "Germline" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000367930" "0" "70" "1" "45797356" "45797356" "subst" "0" "00770" "MUTYH_000071" "g.45797356A>G" "" "DUPLICATE – to be removed" "" "1121T>C (Leu374Pro)" "" "Germline" "" "" "0" "" "" "g.45331684A>G" "" "likely pathogenic" "" "0000367931" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "00770" "MUTYH_000072" "g.45797348G>A" "" "DUPLICATE – to be removed" "" "1129C>T (Gln377X)" "" "Germline" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000367932" "0" "70" "1" "45797342" "45797342" "del" "0" "00770" "MUTYH_000073" "g.45797342del" "" "DUPLICATE – to be removed" "" "1136del (Asn380ThrfsX14)" "" "Germline" "" "" "0" "" "" "g.45331670del" "" "likely pathogenic" "" "0000367933" "0" "50" "1" "45797285" "45797285" "subst" "0" "00770" "MUTYH_000074" "g.45797285C>A" "" "DUPLICATE – to be removed" "" "1144+48G>A; 1145-57G>T" "" "Germline" "" "" "0" "" "" "g.45331613C>A" "" "VUS" "" "0000367934" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00770" "MUTYH_000075" "g.45797228C>T" "" "DUPLICATE – to be removed" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000367935" "0" "50" "1" "45797202" "45797202" "subst" "0" "00770" "MUTYH_000076" "g.45797202G>A" "" "DUPLICATE – to be removed" "" "1171C>T (Pro391Ser)" "" "Germline" "" "" "0" "" "" "g.45331530G>A" "" "VUS" "" "0000367936" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00770" "MUTYH_000077" "g.45797201G>A" "" "DUPLICATE – to be removed" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000367937" "0" "90" "1" "45797188" "45797189" "dup" "0" "00770" "MUTYH_000078" "g.45797188_45797189dup" "" "DUPLICATE – to be removed" "" "1186_1187insGG Glu396fsX42" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000367938" "0" "90" "1" "45797174" "45797174" "subst" "0" "00770" "MUTYH_000079" "g.45797174T>C" "" "DUPLICATE – to be removed" "" "1199A>G (Gln400Arg)" "" "Germline" "" "" "0" "" "" "g.45331502T>C" "" "pathogenic" "" "0000367939" "0" "50" "1" "45796257" "45796257" "subst" "0.000544672" "00770" "MUTYH_000080" "g.45796257C>T" "" "DUPLICATE – to be removed" "" "1435-28G>A" "" "Germline" "" "" "0" "" "" "g.45330585C>T" "" "VUS" "" "0000367940" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "00770" "MUTYH_000081" "g.45797139G>A" "" "DUPLICATE – to be removed" "" "1234C>T (Arg412Cys)" "" "Germline" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000367941" "0" "50" "1" "45797040" "45797040" "subst" "1.21825E-5" "00770" "MUTYH_000082" "g.45797040G>A" "" "DUPLICATE – to be removed" "" "1282-34C>T" "" "Germline" "" "" "0" "" "" "g.45331368G>A" "" "VUS" "" "0000367942" "0" "50" "1" "45806091" "45806091" "subst" "0" "00770" "MUTYH_000083" "g.45806091G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219466" "0" "" "" "g.45340419G>A" "" "VUS" "" "0000367943" "0" "50" "1" "45796913" "45796913" "subst" "4.06058E-5" "00770" "MUTYH_000084" "g.45796913C>T" "" "DUPLICATE – to be removed" "" "1375G>A (Ala459Thr)" "" "Germline" "" "" "0" "" "" "g.45331241C>T" "" "VUS" "" "0000367944" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "00770" "MUTYH_000085" "g.45796899C>G" "" "DUPLICATE – to be removed" "" "1389G>C (Thr463Thr)" "" "Germline" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000367945" "0" "90" "1" "45796895" "45796897" "del" "0" "00770" "MUTYH_000086" "g.45796895_45796897del" "" "DUPLICATE – to be removed" "" "1437_1439del, 1434_1436del (Glu466del)" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000367946" "0" "50" "1" "45800202" "45800202" "subst" "0" "00770" "MUTYH_000087" "g.45800202G>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334530G>C" "" "VUS" "" "0000367947" "0" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "00770" "MUTYH_000088" "g.45796892C>A" "" "DUPLICATE – to be removed" "" "Glu466*; E466*" "" "Germline" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000367948" "0" "90" "1" "45796891" "45796894" "del" "0" "00770" "MUTYH_000089" "g.45796891_45796894del" "" "DUPLICATE – to be removed" "" "1395_1398del; 1395delGGAA (Glu465AspfsX11)" "" "Germline" "" "" "0" "" "" "g.45331219_45331222del" "" "pathogenic" "" "0000367949" "0" "70" "1" "45796870" "45796870" "del" "0" "00770" "MUTYH_000090" "g.45796870del" "" "DUPLICATE – to be removed" "" "1419del; 1419delC (Thr474ProfsX)" "" "Germline" "" "" "0" "" "" "g.45331198del" "" "likely pathogenic" "" "0000367950" "0" "90" "1" "45798561" "45798573" "del" "0" "00770" "MUTYH_000091" "g.45798561_45798573del" "" "DUPLICATE – to be removed" "" "462+19_462+31del; 504 19_31del13" "" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "" "pathogenic" "" "0000367951" "0" "90" "1" "45798489" "45798489" "subst" "0" "00770" "MUTYH_000092" "g.45798489C>T" "" "DUPLICATE – to be removed" "" "480G>A (Trp160X)" "" "Germline" "" "" "0" "" "" "g.45332817C>T" "" "pathogenic" "" "0000367952" "0" "90" "1" "45797184" "45797185" "dup" "0" "00770" "MUTYH_000093" "g.45797184_45797185dup" "" "DUPLICATE – to be removed" "" "1188_1189dup; 1187insGC (Pro397ArgfsX42)" "" "Germline" "" "" "0" "" "" "g.45331512_45331513dup" "" "pathogenic" "" "0000367953" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "00770" "MUTYH_000094" "g.45795084G>A" "" "DUPLICATE – to be removed" "" "1502C>T (Ser501Phe)" "" "Germline" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000367954" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "00770" "MUTYH_000094" "g.45795084G>A" "" "DUPLICATE – to be removed" "" "1502C>T (Ser501Phe)" "" "Germline" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000367955" "0" "50" "1" "45795081" "45795081" "subst" "1.62455E-5" "00770" "MUTYH_000095" "g.45795081G>A" "" "DUPLICATE – to be removed" "" "1505C>T (Pro502Leu)" "" "Germline" "" "" "0" "" "" "g.45329409G>A" "" "VUS" "" "0000367956" "0" "50" "1" "45795027" "45795027" "subst" "0.00255411" "00770" "MUTYH_000096" "g.45795027C>T" "" "DUPLICATE – to be removed" "" "1559G>A (Arg520Gln)" "" "Germline" "" "rs3219497" "0" "" "" "g.45329355C>T" "" "VUS" "" "0000367957" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00770" "MUTYH_000097" "g.45797835T>G" "" "DUPLICATE – to be removed" "" "891+3A>C; 9034A>C (AF527839); IVS10+3" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000367958" "0" "90" "1" "45797760" "45797760" "subst" "0.00108835" "00770" "MUTYH_000098" "g.45797760T>C" "" "DUPLICATE – to be removed" "" "892-2A>G" "" "Germline" "" "" "0" "" "" "g.45332088T>C" "" "pathogenic" "" "0000367959" "0" "50" "1" "45797787" "45797787" "subst" "2.03056E-5" "00770" "MUTYH_000099" "g.45797787G>A" "" "DUPLICATE – to be removed" "" "892-29C>T" "" "Germline" "" "" "0" "" "" "g.45332115G>A" "" "VUS" "" "0000367960" "0" "50" "1" "45797530" "45797530" "subst" "0.000399669" "00770" "MUTYH_000100" "g.45797530G>A" "" "DUPLICATE – to be removed" "" "956-9C>T" "" "Germline" "" "rs3219488" "0" "" "" "g.45331858G>A" "" "VUS" "" "0000367961" "0" "70" "1" "45797534" "45797534" "subst" "0" "00770" "MUTYH_000101" "g.45797534A>C" "" "DUPLICATE – to be removed" "" "956-13T>G" "" "Germline" "" "" "0" "" "" "g.45331862A>C" "" "likely pathogenic" "" "0000367962" "0" "50" "1" "45798460" "45798460" "subst" "2.03028E-5" "00770" "MUTYH_000103" "g.45798460C>T" "" "DUPLICATE – to be removed" "" "509G>A (Arg170Gln); R170Q" "" "Germline" "" "" "0" "" "" "g.45332788C>T" "" "VUS" "" "0000367963" "0" "50" "1" "45797255" "45797255" "subst" "0.0036991" "00770" "MUTYH_000104" "g.45797255G>A" "" "DUPLICATE – to be removed" "" "1145-27C>T" "" "Germline" "" "rs3219490" "0" "" "" "g.45331583G>A" "" "VUS" "" "0000367964" "0" "50" "1" "45796069" "45796069" "subst" "0" "00770" "MUTYH_000105" "g.45796069C>T" "" "DUPLICATE – to be removed" "" "1476+119G>A" "" "Germline" "" "" "0" "" "" "g.45330397C>T" "" "VUS" "" "0000367965" "0" "50" "1" "45796269" "45796269" "subst" "0" "00770" "MUTYH_000106" "g.45796269C>G" "" "DUPLICATE – to be removed" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000367966" "0" "50" "1" "45796115" "45796115" "subst" "0" "00770" "MUTYH_000107" "g.45796115G>A" "" "DUPLICATE – to be removed" "" "1476+73C>T" "" "Germline" "" "rs3219495" "0" "" "" "g.45330443G>A" "" "VUS" "" "0000367967" "0" "50" "1" "45799074" "45799074" "subst" "0.00166508" "00770" "MUTYH_000108" "g.45799074C>T" "" "DUPLICATE – to be removed" "" "306+11G>A" "" "Germline" "" "" "0" "" "" "g.45333402C>T" "" "VUS" "" "0000367968" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "00770" "MUTYH_000109" "g.45797401G>A" "" "DUPLICATE – to be removed" "" "A359V; A345V" "" "Germline" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "VUS" "" "0000367969" "0" "90" "1" "45798843" "45798843" "subst" "0" "00770" "MUTYH_000110" "g.45798843C>T" "" "DUPLICATE – to be removed" "" "347-1G>A (Val116GlufsX98)" "" "Germline" "" "" "0" "" "" "g.45333171C>T" "" "pathogenic" "" "0000367970" "0" "50" "1" "45798185" "45798185" "subst" "0" "00770" "MUTYH_000112" "g.45798185A>T" "" "DUPLICATE – to be removed" "" "649-25T>A; 648+61T>A" "" "Germline" "" "" "0" "" "" "g.45332513A>T" "" "VUS" "" "0000367971" "0" "50" "1" "45798188" "45798188" "subst" "4.06838E-6" "00770" "MUTYH_000114" "g.45798188C>T" "" "DUPLICATE – to be removed" "" "649-28G>A; 648+58G>A" "" "Germline" "" "" "0" "" "" "g.45332516C>T" "" "VUS" "" "0000367972" "0" "70" "1" "45800129" "45800129" "del" "2.03039E-5" "00770" "MUTYH_000116" "g.45800129del" "" "DUPLICATE – to be removed" "" "(Ala31ProfsX46)" "" "Germline" "" "" "0" "" "" "g.45334457del" "" "likely pathogenic" "" "0000367973" "0" "50" "1" "45796212" "45796212" "subst" "8.40838E-6" "00770" "MUTYH_000117" "g.45796212C>G" "" "DUPLICATE – to be removed" "" "1452G>C (Gln484His)" "" "Germline" "" "" "0" "" "" "g.45330540C>G" "" "VUS" "" "0000367974" "0" "50" "1" "45797037" "45797067" "del" "0" "00770" "MUTYH_000118" "g.45797037_45797067del" "" "DUPLICATE – to be removed" "" "1281+25_1282-31del; 1281+25del30" "" "Germline" "" "" "0" "" "" "g.45331365_45331395del" "" "VUS" "" "0000367975" "0" "90" "1" "45797752" "45797752" "subst" "1.21828E-5" "00770" "MUTYH_000119" "g.45797752G>A" "" "DUPLICATE – to be removed" "" "898C>T (Gln300X)" "" "Germline" "" "" "0" "" "" "g.45332080G>A" "" "pathogenic" "" "0000367976" "0" "70" "1" "45798350" "45798350" "subst" "4.06072E-6" "00770" "MUTYH_000120" "g.45798350C>A" "" "DUPLICATE – to be removed" "" "544G>T (Glu182X)" "" "Germline" "" "" "0" "" "" "g.45332678C>A" "" "likely pathogenic" "" "0000367977" "0" "50" "1" "45797523" "45797523" "subst" "0" "00770" "MUTYH_000121" "g.45797523T>C" "" "DUPLICATE – to be removed" "" "956-2A>G (Ala319_Ser381del)" "" "Germline" "" "" "0" "" "" "g.45331851T>C" "" "VUS" "" "0000367978" "0" "50" "1" "45796912" "45796912" "subst" "2.84243E-5" "00770" "MUTYH_000123" "g.45796912G>T" "" "DUPLICATE – to be removed" "" "1376C>A (Ala459Asp)" "" "Germline" "" "" "0" "" "" "g.45331240G>T" "" "VUS" "" "0000367979" "0" "50" "1" "45798979" "45798979" "subst" "0" "00770" "MUTYH_000124" "g.45798979G>A" "" "DUPLICATE – to be removed" "" "324C>T" "" "Germline" "" "" "0" "" "" "g.45333307G>A" "" "VUS" "" "0000367980" "0" "50" "1" "45798969" "45798969" "subst" "6.09389E-5" "00770" "MUTYH_000125" "g.45798969G>A" "" "DUPLICATE – to be removed" "" "334C>T (Arg112Trp)" "" "Germline" "" "" "0" "" "" "g.45333297G>A" "" "VUS" "" "0000367981" "0" "50" "1" "45798902" "45798902" "subst" "0" "00770" "MUTYH_000126" "g.45798902C>T" "" "DUPLICATE – to be removed" "" "346+55G>A" "" "Germline" "" "" "0" "" "" "g.45333230C>T" "" "VUS" "" "0000367982" "0" "70" "1" "45798843" "45798843" "subst" "0" "00770" "MUTYH_000127" "g.45798843C>G" "" "DUPLICATE – to be removed" "" "347-1G>C" "" "Germline" "" "" "0" "" "" "g.45333171C>G" "" "likely pathogenic" "" "0000367983" "0" "50" "1" "45798670" "45798670" "subst" "6.52401E-5" "00770" "MUTYH_000128" "g.45798670G>A" "" "DUPLICATE – to be removed" "" "421-39C>T" "" "Germline" "" "" "0" "" "" "g.45332998G>A" "" "VUS" "" "0000367984" "0" "50" "1" "45798329" "45798329" "subst" "3.65476E-5" "00770" "MUTYH_000129" "g.45798329G>A" "" "DUPLICATE – to be removed" "" "565C>T (Arg189Cys)" "" "Germline" "" "" "0" "" "" "g.45332657G>A" "" "VUS" "" "0000367985" "0" "50" "1" "45798286" "45798286" "subst" "2.84294E-5" "00770" "MUTYH_000130" "g.45798286C>T" "" "DUPLICATE – to be removed" "" "608G>A (Arg203His)" "" "Germline" "" "" "0" "" "" "g.45332614C>T" "" "VUS" "" "0000367986" "0" "50" "1" "45798165" "45798165" "subst" "4.06967E-6" "00770" "MUTYH_000131" "g.45798165C>A" "" "DUPLICATE – to be removed" "" "649-5G>T" "" "Germline" "" "" "0" "" "" "g.45332493C>A" "" "VUS" "" "0000367987" "0" "90" "1" "45798118" "45798118" "subst" "5.29614E-5" "00770" "MUTYH_000132" "g.45798118G>A" "" "DUPLICATE – to be removed" "" "691C>T (Arg231Cys)" "" "Germline" "" "" "0" "" "" "g.45332446G>A" "" "pathogenic" "" "0000367988" "0" "50" "1" "45797935" "45797935" "subst" "0" "00770" "MUTYH_000133" "g.45797935T>C" "" "DUPLICATE – to be removed" "" "794A>G (Asn265Ser)" "" "Germline" "" "" "0" "" "" "g.45332263T>C" "" "VUS" "" "0000367989" "0" "90" "1" "45797906" "45797907" "del" "0" "00770" "MUTYH_000134" "g.45797906_45797907del" "" "DUPLICATE – to be removed" "" "822_823del; 864_865delAG (Cys276TyrfsX38)" "" "Germline" "" "" "0" "" "" "g.45332234_45332235del" "" "pathogenic" "" "0000367990" "0" "50" "1" "45797698" "45797698" "subst" "0" "00770" "MUTYH_000135" "g.45797698A>G" "" "DUPLICATE – to be removed" "" "952T>C (Cys318Arg)" "" "Germline" "" "" "0" "" "" "g.45332026A>G" "" "VUS" "" "0000367991" "0" "50" "1" "45797688" "45797688" "subst" "0" "00770" "MUTYH_000136" "g.45797688T>C" "" "DUPLICATE – to be removed" "" "955+7A>G" "" "Germline" "" "" "0" "" "" "g.45332016T>C" "" "VUS" "" "0000367992" "0" "50" "1" "45797548" "45797548" "subst" "0.00119508" "00770" "MUTYH_000137" "g.45797548C>T" "" "DUPLICATE – to be removed" "" "956-27G>A; 956-27C>T (?)" "" "Germline" "" "" "0" "" "" "g.45331876C>T" "" "VUS" "" "0000367993" "0" "90" "1" "45797522" "45797522" "subst" "0" "00770" "MUTYH_000138" "g.45797522C>A" "" "DUPLICATE – to be removed" "" "956-1G>T (Ala319_Ser381del)" "" "Germline" "" "" "0" "" "" "g.45331850C>A" "" "pathogenic" "" "0000367994" "0" "50" "1" "45797443" "45797443" "subst" "4.08934E-6" "00770" "MUTYH_000139" "g.45797443G>A" "" "DUPLICATE – to be removed" "" "1034C>T (Pro345Leu)" "" "Germline" "" "" "0" "" "" "g.45331771G>A" "" "VUS" "" "0000367995" "0" "50" "1" "45797442" "45797442" "subst" "0" "00770" "MUTYH_000140" "g.45797442G>A" "" "DUPLICATE – to be removed" "" "1035C>T (Pro345Pro)" "" "Germline" "" "" "0" "" "" "g.45331770G>A" "" "VUS" "" "0000367996" "0" "50" "1" "45797157" "45797157" "subst" "0.000573124" "00770" "MUTYH_000141" "g.45797157G>T" "" "DUPLICATE – to be removed" "" "1216C>A (Leu406Met)" "" "Germline" "" "" "0" "" "" "g.45331485G>T" "" "VUS" "" "0000367997" "0" "90" "1" "45796895" "45796895" "subst" "4.06062E-6" "00770" "MUTYH_000142" "g.45796895C>A" "" "DUPLICATE – to be removed" "" "1393G>T (Glu465X)" "" "Germline" "" "" "0" "" "" "g.45331223C>A" "" "pathogenic" "" "0000367998" "0" "70" "1" "45796229" "45796229" "subst" "0" "00770" "MUTYH_000143" "g.45796229C>A" "" "DUPLICATE – to be removed" "" "1435G>T (Val479Phe); V479F" "" "Germline" "" "" "0" "" "" "g.45330557C>A" "" "likely pathogenic" "" "0000367999" "0" "50" "1" "45795080" "45795080" "subst" "0.000138081" "00770" "MUTYH_000144" "g.45795080C>T" "" "DUPLICATE – to be removed" "" "1506G>A (Pro502Pro)" "" "Germline" "" "" "0" "" "" "g.45329408C>T" "" "VUS" "" "0000368000" "0" "50" "1" "45795019" "45795019" "subst" "4.06058E-6" "00770" "MUTYH_000145" "g.45795019T>C" "" "DUPLICATE – to be removed" "" "1567A>G (Ile523Val)" "" "Germline" "" "" "0" "" "" "g.45329347T>C" "" "VUS" "" "0000368001" "0" "50" "1" "45800158" "45800158" "subst" "0" "00770" "MUTYH_000146" "g.45800158G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334486G>A" "" "VUS" "" "0000368002" "0" "50" "1" "45798678" "45798678" "subst" "0" "00770" "MUTYH_000147" "g.45798678G>A" "" "DUPLICATE – to be removed" "" "421-47C>T" "" "Germline" "" "" "0" "" "" "g.45333006G>A" "" "VUS" "" "0000368003" "0" "50" "1" "45796246" "45796246" "subst" "0" "00770" "MUTYH_000148" "g.45796246C>A" "" "DUPLICATE – to be removed" "" "1435-17C>T" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000368004" "0" "50" "1" "45795192" "45795192" "subst" "0" "00770" "MUTYH_000149" "g.45795192C>G" "" "DUPLICATE – to be removed" "" "1477-83G>C; 1481-83G>C (intron 15)" "" "Germline" "" "" "0" "" "" "g.45329520C>G" "" "VUS" "" "0000368005" "0" "50" "1" "45797105" "45797105" "subst" "4.062E-6" "00770" "MUTYH_000150" "g.45797105C>T" "" "DUPLICATE – to be removed" "" "1268G>A (Arg423Gln); R423Q" "" "Germline" "" "" "0" "" "" "g.45331433C>T" "" "VUS" "" "0000368006" "0" "50" "1" "45797105" "45797105" "subst" "0" "00770" "MUTYH_000151" "g.45797105C>G" "" "DUPLICATE – to be removed" "" "1268G>C (Arg423Pro); R423P" "" "Germline" "" "" "0" "" "" "g.45331433C>G" "" "VUS" "" "0000368007" "0" "50" "1" "45797104" "45797104" "subst" "1.21857E-5" "00770" "MUTYH_000152" "g.45797104C>T" "" "DUPLICATE – to be removed" "" "1269G>A (Arg423Arg); R423R" "" "Germline" "" "" "0" "" "" "g.45331432C>T" "" "VUS" "" "0000368008" "0" "50" "1" "45800164" "45800164" "subst" "2.84245E-5" "00770" "MUTYH_000153" "g.45800164C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334492C>T" "" "VUS" "" "0000368009" "0" "50" "1" "45799988" "45799988" "subst" "0" "00770" "MUTYH_000154" "g.45799988C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334316C>T" "" "VUS" "" "0000368010" "0" "50" "1" "45799912" "45799912" "subst" "0" "00770" "MUTYH_000155" "g.45799912C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219486" "0" "" "" "g.45334240C>T" "" "VUS" "" "0000368011" "0" "50" "1" "45799927" "45799927" "subst" "0" "00770" "MUTYH_000156" "g.45799927C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334255C>T" "" "VUS" "" "0000368012" "0" "50" "1" "45796354" "45796354" "subst" "0" "00770" "MUTYH_000157" "g.45796354G>T" "" "DUPLICATE – to be removed" "" "1435-125C>A" "" "Germline" "" "rs3219492" "0" "" "" "g.45330682G>T" "" "VUS" "" "0000368013" "0" "50" "1" "45796626" "45796626" "subst" "0" "00770" "MUTYH_000158" "g.45796626G>A" "" "DUPLICATE – to be removed" "" "1434+228C>T" "" "Germline" "" "rs3219491" "0" "" "" "g.45330954G>A" "" "VUS" "" "0000368014" "0" "50" "1" "0" "0" "ins" "0" "00770" "MUTYH_000159" "g.?" "" "DUPLICATE – to be removed" "" "1476+479_1476+480ins327" "" "Germline" "" "rs10527342" "0" "" "" "" "" "VUS" "" "0000368015" "0" "50" "1" "45797366" "45797366" "subst" "0" "00770" "MUTYH_000160" "g.45797366C>T" "" "DUPLICATE – to be removed" "" "1111G>A (Ala371Thr)" "" "Germline" "" "" "0" "" "" "g.45331694C>T" "" "VUS" "" "0000368016" "0" "50" "1" "45797287" "45797287" "subst" "0" "00770" "MUTYH_000161" "g.45797287C>T" "" "DUPLICATE – to be removed" "" "1144+46G>A" "" "Germline" "" "" "0" "" "" "g.45331615C>T" "" "VUS" "" "0000368017" "0" "50" "1" "45798460" "45798460" "subst" "0" "00770" "MUTYH_000162" "g.45798460C>G" "" "DUPLICATE – to be removed" "" "509G>C (Arg170Pro)" "" "Germline" "" "" "0" "" "" "g.45332788C>G" "" "VUS" "" "0000368018" "0" "50" "1" "45806206" "45806206" "subst" "0" "00770" "MUTYH_000163" "g.45806206C>T" "" "DUPLICATE – to be removed" "" "-280G>A" "" "Germline" "" "rs3219465" "0" "" "" "g.45340534C>T" "" "VUS" "" "0000368019" "0" "50" "1" "45804050" "45804050" "subst" "0" "00770" "MUTYH_000164" "g.45804050C>T" "" "DUPLICATE – to be removed" "" "IVS1+1520 A/G (beta transcript); NM_001048174.1: -7+1521G>A (beta transcript)" "" "Germline" "" "rs3219472" "0" "" "" "g.45338378C>T" "" "VUS" "" "0000368020" "0" "50" "1" "45802143" "45802143" "subst" "0" "00770" "MUTYH_000165" "g.45802143C>G" "" "DUPLICATE – to be removed" "" "IVS1+3427 C/G (beta transcript); NM_001048174.1: -6-1960G>C (beta transcript)" "" "Germline" "" "rs3219479" "0" "" "" "g.45336471C>G" "" "VUS" "" "0000368021" "0" "50" "1" "45798129" "45798129" "subst" "2.85074E-5" "00770" "MUTYH_000166" "g.45798129C>T" "" "DUPLICATE – to be removed" "" "680G>A (Arg227Gln)" "" "Germline" "" "" "0" "" "" "g.45332457C>T" "" "VUS" "" "0000368022" "0" "50" "1" "45798439" "45798439" "subst" "6.09093E-5" "00770" "MUTYH_000167" "g.45798439C>T" "" "DUPLICATE – to be removed" "" "530G>A (Arg177Gln)" "" "Germline" "" "" "0" "" "" "g.45332767C>T" "" "VUS" "" "0000368023" "0" "50" "1" "45797741" "45797741" "subst" "8.12196E-6" "00770" "MUTYH_000168" "g.45797741G>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs11211096" "0" "" "" "g.45332069G>C" "" "VUS" "" "0000368024" "0" "90" "1" "45797477" "45797478" "del" "0" "00770" "MUTYH_000169" "g.45797477_45797478del" "" "DUPLICATE – to be removed" "" "999_1000delGC (Glu333AspfsX184)" "" "Germline" "" "" "0" "" "" "g.45331805_45331806del" "" "pathogenic" "" "0000368025" "0" "50" "1" "45796895" "45796895" "subst" "3.65456E-5" "00770" "MUTYH_000174" "g.45796895C>T" "" "DUPLICATE – to be removed" "" "1393G>A (Glu465Lys)" "" "Germline" "" "" "0" "" "" "g.45331223C>T" "" "VUS" "" "0000368026" "0" "50" "1" "45796198" "45796198" "subst" "0.000109146" "00770" "MUTYH_000176" "g.45796198C>T" "" "DUPLICATE – to be removed" "" "1466G>A (Gly489Glu)" "" "Germline" "" "" "0" "" "" "g.45330526C>T" "" "VUS" "" "0000368027" "0" "50" "1" "45795043" "45795043" "subst" "0.00341909" "00770" "MUTYH_000177" "g.45795043G>T" "" "DUPLICATE – to be removed" "" "1543C>A (Leu515Met)" "" "Germline" "" "" "0" "" "" "g.45329371G>T" "" "VUS" "" "0000368028" "0" "50" "1" "45805919" "45805919" "subst" "4.09065E-6" "00770" "MUTYH_000178" "g.45805919G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45340247G>A" "" "VUS" "" "0000368029" "0" "90" "1" "45800171" "45800171" "subst" "0" "00770" "MUTYH_000179" "g.45800171T>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334499T>A" "" "pathogenic" "" "0000368030" "0" "50" "1" "45799126" "45799126" "subst" "0" "00770" "MUTYH_000181" "g.45799126A>G" "" "DUPLICATE – to be removed" "" "265T>C (Trp89Arg)" "" "Germline" "" "rs1140507" "0" "" "" "g.45333454A>G" "" "VUS" "" "0000368031" "0" "70" "1" "45798457" "45798457" "subst" "8.1211E-6" "00770" "MUTYH_000183" "g.45798457C>T" "" "DUPLICATE – to be removed" "" "512G>A (Arg171Gln); R171Q" "" "Germline" "" "" "0" "" "" "g.45332785C>T" "" "likely pathogenic" "" "0000368032" "0" "70" "1" "45798289" "45798289" "subst" "8.12229E-6" "00770" "MUTYH_000184" "g.45798289C>T" "" "DUPLICATE – to be removed" "" "605G>A; 638G>A (Gly202Glu); G213E" "" "Germline" "" "" "0" "" "" "g.45332617C>T" "" "likely pathogenic" "" "0000368033" "0" "50" "1" "45798256" "45798256" "subst" "0" "00770" "MUTYH_000185" "g.45798256G>A" "" "DUPLICATE – to be removed" "" "638C>T (Ala213Val)" "" "Germline" "" "rs11545695" "0" "" "" "g.45332584G>A" "" "VUS" "" "0000368034" "0" "50" "1" "45797529" "45797529" "subst" "0" "00770" "MUTYH_000187" "g.45797529C>T" "" "DUPLICATE – to be removed" "" "956-8G>A" "" "Germline" "" "" "0" "" "" "g.45331857C>T" "" "VUS" "" "0000368035" "0" "50" "1" "45796247" "45796247" "subst" "0" "00770" "MUTYH_000188" "g.45796247G>A" "" "DUPLICATE – to be removed" "" "1435-18C>T" "" "Germline" "" "" "0" "" "" "g.45330575G>A" "" "VUS" "" "0000368036" "0" "70" "1" "45798458" "45798458" "subst" "1.21817E-5" "00770" "MUTYH_000190" "g.45798458G>A" "" "DUPLICATE – to be removed" "" "Arg171Trp; R171W" "" "Germline" "" "" "0" "" "" "g.45332786G>A" "" "likely pathogenic" "" "0000368037" "0" "90" "1" "45797914" "45797914" "subst" "2.44089E-5" "00770" "MUTYH_000191" "g.45797914C>T" "" "DUPLICATE – to be removed" "" "Gly272Glu; G272E" "" "Germline" "" "" "0" "" "" "g.45332242C>T" "" "pathogenic" "" "0000368038" "0" "70" "1" "45797972" "45797972" "subst" "1.63291E-5" "00770" "MUTYH_000192" "g.45797972G>A" "" "DUPLICATE – to be removed" "" "757C>T (Gln253X); Q253X" "" "Germline" "" "" "0" "" "" "g.45332300G>A" "" "likely pathogenic" "" "0000368039" "0" "50" "1" "45796969" "45796969" "subst" "1.62422E-5" "00770" "MUTYH_000193" "g.45796969T>G" "" "DUPLICATE – to be removed" "" "1319A>C (Gln440Pro); Q440P" "" "Germline" "" "" "0" "" "" "g.45331297T>G" "" "VUS" "" "0000368040" "0" "70" "1" "45798246" "45798246" "subst" "4.06266E-6" "00770" "MUTYH_000194" "g.45798246C>T" "" "DUPLICATE – to be removed" "" "648G>A; 681G>A (Val179_Gln216del); (Gln216Gln); Q227" "" "Germline" "" "" "0" "" "" "g.45332574C>T" "" "likely pathogenic" "" "0000368041" "0" "70" "1" "45798138" "45798138" "subst" "0" "00770" "MUTYH_000195" "g.45798138T>C" "" "DUPLICATE – to be removed" "" "671A>G (Asn224Ser)" "" "Germline" "" "" "0" "" "" "g.45332466T>C" "" "likely pathogenic" "" "0000368042" "0" "70" "1" "45797423" "45797423" "del" "0" "00770" "MUTYH_000196" "g.45797423del" "" "DUPLICATE – to be removed" "" "1059del; 1092delC (Arg354GlyfsX40)" "" "Germline" "" "" "0" "" "" "g.45331751del" "" "likely pathogenic" "" "0000368043" "0" "50" "1" "45796900" "45796900" "subst" "1.62429E-5" "00770" "MUTYH_000197" "g.45796900G>A" "" "DUPLICATE – to be removed" "" "1388C>T; 1421C>T (Thr463Met); T474M" "" "Germline" "" "" "0" "" "" "g.45331228G>A" "" "VUS" "" "0000368044" "0" "90" "1" "45796186" "45796186" "subst" "0" "00770" "MUTYH_000198" "g.45796186A>G" "" "DUPLICATE – to be removed" "" "1476+2T>C; 1509+2T>C (Val479_Met492del)" "" "Germline" "" "" "0" "" "" "g.45330514A>G" "" "pathogenic" "" "0000368045" "0" "90" "1" "45796974" "45796974" "del" "0" "00770" "MUTYH_000199" "g.45796974del" "" "DUPLICATE – to be removed" "" "1314delA (Tyr439IlefsX14); V452X" "" "Germline" "" "" "0" "" "" "g.45331302del" "" "pathogenic" "" "0000368046" "0" "50" "1" "45805624" "45805624" "subst" "0.00367812" "00770" "MUTYH_000200" "g.45805624G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45339952G>A" "" "VUS" "" "0000368047" "0" "50" "1" "45798102" "45798102" "subst" "0" "00770" "MUTYH_000201" "g.45798102C>T" "" "DUPLICATE – to be removed" "" "707G>A (Gly236Asp)" "" "Germline" "" "" "0" "" "" "g.45332430C>T" "" "VUS" "" "0000368048" "0" "70" "1" "45798308" "45798308" "subst" "4.06095E-6" "00770" "MUTYH_000202" "g.45798308G>A" "" "DUPLICATE – to be removed" "" "592C>T (Gln196X)" "" "Germline" "" "" "0" "" "" "g.45332636G>A" "" "likely pathogenic" "" "0000368049" "0" "50" "1" "45798632" "45798632" "subst" "0" "00770" "MUTYH_000203" "g.45798632C>G" "" "DUPLICATE – to be removed" "" "421-1G>C" "" "Germline" "" "" "0" "" "" "g.45332960C>G" "" "VUS" "" "0000368050" "0" "50" "1" "45798293" "45798293" "subst" "4.87349E-5" "00770" "MUTYH_000204" "g.45798293C>T" "" "DUPLICATE – to be removed" "" "601G>A (Val201Met)" "" "Germline" "" "" "0" "" "" "g.45332621C>T" "" "VUS" "" "0000368051" "0" "90" "1" "45800165" "45800165" "subst" "8.1217E-6" "00770" "MUTYH_000205" "g.45800165G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334493G>A" "" "pathogenic" "" "0000368052" "0" "50" "1" "45795034" "45795034" "subst" "0" "00770" "MUTYH_000206" "g.45795034A>C" "" "DUPLICATE – to be removed" "" "Phe518Ala" "" "Germline" "" "" "0" "" "" "g.45329362A>C" "" "VUS" "" "0000368053" "0" "50" "1" "45795031" "45795031" "subst" "0" "00770" "MUTYH_000207" "g.45795031A>C" "" "DUPLICATE – to be removed" "" "Phe519Ala" "" "Germline" "" "" "0" "" "" "g.45329359A>C" "" "VUS" "" "0000368054" "0" "90" "1" "45797343" "45797345" "del" "0" "00770" "MUTYH_000208" "g.45797343_45797345delinsAGC" "" "DUPLICATE – to be removed" "" "Arg378Ala" "" "Germline" "" "" "0" "" "" "g.45331671_45331673delinsAGC" "" "pathogenic" "" "0000368055" "0" "50" "1" "45798474" "45798475" "del" "0" "00770" "MUTYH_000209" "g.45798474_45798475delinsCA" "" "DUPLICATE – to be removed" "" "Tyr165Leu" "" "Germline" "" "" "0" "" "" "g.45332802_45332803delinsCA" "" "VUS" "" "0000368056" "0" "50" "1" "45798474" "45798475" "del" "0" "00770" "MUTYH_000210" "g.45798474_45798475delinsAA" "" "DUPLICATE – to be removed" "" "Tyr165Phe" "" "Germline" "" "" "0" "" "" "g.45332802_45332803delinsAA" "" "VUS" "" "0000368057" "0" "50" "1" "45797227" "45797228" "del" "0" "00770" "MUTYH_000211" "g.45797227_45797228delinsTG" "" "DUPLICATE – to be removed" "" "Gly382Ala" "" "Germline" "" "" "0" "" "" "g.45331555_45331556delinsTG" "" "VUS" "" "0000368058" "0" "90" "1" "45798490" "45798490" "subst" "0" "00770" "MUTYH_000212" "g.45798490C>T" "" "DUPLICATE – to be removed" "" "479G>A Trp160X" "" "Germline" "" "" "0" "" "" "g.45332818C>T" "" "pathogenic" "" "0000368059" "0" "50" "1" "45797378" "45797378" "subst" "8.13517E-6" "00770" "MUTYH_000213" "g.45797378C>A" "" "DUPLICATE – to be removed" "" "1099G>T (Gly367Trp)" "" "Germline" "" "" "0" "" "" "g.45331706C>A" "" "VUS" "" "0000368060" "0" "50" "1" "45796256" "45796256" "subst" "3.61827E-5" "00770" "MUTYH_000214" "g.45796256G>A" "" "DUPLICATE – to be removed" "" "1435-27C>T" "" "Germline" "" "" "0" "" "" "g.45330584G>A" "" "VUS" "" "0000368061" "0" "50" "1" "45795061" "45795061" "subst" "8.1217E-5" "00770" "MUTYH_000215" "g.45795061G>A" "" "DUPLICATE – to be removed" "" "1525C>T (Arg509Cys)" "" "Germline" "" "" "0" "" "" "g.45329389G>A" "" "VUS" "" "0000368062" "0" "50" "1" "45797428" "45797428" "subst" "2.03772E-5" "00770" "MUTYH_000216" "g.45797428C>T" "" "DUPLICATE – to be removed" "" "1049G>A Arg350His" "" "Germline" "" "" "0" "" "" "g.45331756C>T" "" "VUS" "" "0000368063" "0" "50" "1" "45797701" "45797701" "subst" "4.06154E-6" "00770" "MUTYH_000217" "g.45797701C>T" "" "DUPLICATE – to be removed" "" "949G>A Glu317Lys" "" "Germline" "" "" "0" "" "" "g.45332029C>T" "" "VUS" "" "0000368064" "0" "50" "1" "45797290" "45797291" "del" "3.26752E-5" "00770" "MUTYH_000218" "g.45797290_45797291del" "" "DUPLICATE – to be removed" "" "1144+42_1144+43del; 1186+42_1186+43delAA" "" "Germline" "" "" "0" "" "" "g.45331618_45331619del" "" "VUS" "" "0000368065" "0" "90" "1" "45797465" "45797467" "delins" "0" "00770" "MUTYH_000220" "g.45797465_45797467delinsCTCC" "" "DUPLICATE – to be removed" "" "1010_1012delinsGGAG; 1052_1054delAGAinsGGAG (Gln337ArgfsX181)" "" "Germline" "" "" "0" "" "" "g.45331793_45331795delinsCTCC" "" "pathogenic" "" "0000368066" "0" "90" "1" "45798769" "45798769" "subst" "0" "00770" "MUTYH_000222" "g.45798769C>T" "" "DUPLICATE – to be removed" "" "420G>A (Val116GlufsX98)" "" "Germline" "" "" "0" "" "" "g.45333097C>T" "" "pathogenic" "" "0000368067" "0" "50" "1" "45797114" "45797114" "subst" "4.0622E-5" "00770" "MUTYH_000223" "g.45797114G>A" "" "DUPLICATE – to be removed" "" "1259C>T Thr420Met" "" "Germline" "" "" "0" "" "" "g.45331442G>A" "" "VUS" "" "0000368068" "0" "50" "1" "45805890" "45805890" "subst" "0" "00770" "MUTYH_000224" "g.45805890C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45340218C>T" "" "VUS" "" "0000368069" "0" "50" "1" "45798613" "45798613" "subst" "8.56437E-5" "00770" "MUTYH_000225" "g.45798613C>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45332941C>G" "" "VUS" "" "0000368070" "0" "70" "1" "45797216" "45797216" "subst" "0" "00770" "MUTYH_000226" "g.45797216C>A" "" "DUPLICATE – to be removed" "" "1157G>T; NM_012222.2: 1190G>T (Gly386Val); NP_036354.1: Gly397Val" "" "Germline" "" "" "0" "" "" "g.45331544C>A" "" "likely pathogenic" "" "0000368071" "0" "50" "1" "45806009" "45806009" "subst" "6.18282E-5" "00770" "MUTYH_000229" "g.45806009C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs28372898" "0" "" "" "g.45340337C>T" "" "VUS" "" "0000368072" "0" "50" "1" "45805837" "45805837" "subst" "0" "00770" "MUTYH_000230" "g.45805837C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs17838009" "0" "" "" "g.45340165C>T" "" "VUS" "" "0000368073" "0" "50" "1" "45805413" "45805413" "subst" "0" "00770" "MUTYH_000231" "g.45805413G>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219469" "0" "" "" "g.45339741G>C" "" "VUS" "" "0000368074" "0" "50" "1" "45805170" "45805170" "subst" "0" "00770" "MUTYH_000232" "g.45805170G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219470" "0" "" "" "g.45339498G>A" "" "VUS" "" "0000368075" "0" "50" "1" "45805061" "45805061" "subst" "0" "00770" "MUTYH_000233" "g.45805061C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs1140199" "0" "" "" "g.45339389C>T" "" "VUS" "" "0000368076" "0" "50" "1" "45805046" "45805046" "subst" "0" "00770" "MUTYH_000234" "g.45805046C>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs6696152" "0" "" "" "g.45339374C>G" "" "VUS" "" "0000368077" "0" "50" "1" "45805044" "45805044" "subst" "0" "00770" "MUTYH_000235" "g.45805044A>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs1140200" "0" "" "" "g.45339372A>G" "" "VUS" "" "0000368078" "0" "50" "1" "45805039" "45805039" "subst" "0" "00770" "MUTYH_000236" "g.45805039T>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs1140201" "0" "" "" "g.45339367T>C" "" "VUS" "" "0000368079" "0" "50" "1" "45804899" "45804899" "dup" "0" "00770" "MUTYH_000237" "g.45804899dup" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs60609540" "0" "" "" "g.45339227dup" "" "VUS" "" "0000368080" "0" "50" "1" "45797324" "45797324" "subst" "0.000110063" "00770" "MUTYH_000238" "g.45797324T>A" "" "DUPLICATE – to be removed" "" "1144+9A>T" "" "Germline" "" "" "0" "" "" "g.45331652T>A" "" "VUS" "" "0000368081" "0" "50" "1" "45798225" "45798225" "subst" "0.000292673" "00770" "MUTYH_000239" "g.45798225G>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45332553G>C" "" "VUS" "" "0000368082" "0" "50" "1" "45798966" "45798966" "subst" "4.06286E-6" "00770" "MUTYH_000240" "g.45798966C>T" "" "DUPLICATE – to be removed" "" "337G>A (Ala113Thr)" "" "Germline" "" "" "0" "" "" "g.45333294C>T" "" "VUS" "" "0000368083" "0" "50" "1" "45798098" "45798098" "subst" "0" "00770" "MUTYH_000241" "g.45798098A>G" "" "DUPLICATE – to be removed" "" "711T>C; 711C>T (Ala237Ala)" "" "Germline" "" "" "0" "" "" "g.45332426A>G" "" "VUS" "" "0000368084" "0" "50" "1" "45798510" "45798510" "subst" "0.00123864" "00770" "MUTYH_000242" "g.45798510T>C" "" "DUPLICATE – to be removed" "" "463-4A>G" "" "Germline" "" "" "0" "" "" "g.45332838T>C" "" "VUS" "" "0000368085" "0" "50" "1" "45798112" "45798112" "subst" "8.16767E-6" "00770" "MUTYH_000243" "g.45798112G>C" "" "DUPLICATE – to be removed" "" "697C>G (Arg233Gly)" "" "Germline" "" "" "0" "" "" "g.45332440G>C" "" "VUS" "" "0000368086" "0" "50" "1" "45806432" "45806432" "subst" "0" "00770" "MUTYH_000244" "g.45806432C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219463" "0" "" "" "g.45340760C>T" "" "VUS" "" "0000368087" "0" "50" "1" "45802670" "45802670" "subst" "0" "00770" "MUTYH_000245" "g.45802670A>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219476" "0" "" "" "g.45336998A>C" "" "VUS" "" "0000368088" "0" "50" "1" "45797720" "45797720" "subst" "1.21836E-5" "00770" "MUTYH_000247" "g.45797720C>T" "" "DUPLICATE – to be removed" "" "930G>A (Ser310Ser)" "" "Germline" "" "" "0" "" "" "g.45332048C>T" "" "VUS" "" "0000368089" "0" "50" "1" "45796889" "45796889" "subst" "0" "00770" "MUTYH_000248" "g.45796889A>T" "" "DUPLICATE – to be removed" "" "1399T>A (Phe467Ile)" "" "Germline" "" "" "0" "" "" "g.45331217A>T" "" "VUS" "" "0000368090" "0" "90" "1" "45797114" "45797128" "del" "0" "00770" "MUTYH_000249" "g.45797114_45797128del" "" "DUPLICATE – to be removed" "" "1247_1261del (Pro416_Thr420del)" "" "Germline" "" "" "0" "" "" "g.45331442_45331456del" "" "pathogenic" "" "0000368091" "0" "50" "1" "45798778" "45798778" "subst" "0" "00770" "MUTYH_000250" "g.45798778T>G" "" "DUPLICATE – to be removed" "" "411A>C (Gly137Gly)" "" "Germline" "" "" "0" "" "" "g.45333106T>G" "" "VUS" "" "0000368092" "0" "50" "1" "45798271" "45798271" "subst" "0" "00770" "MUTYH_000251" "g.45798271G>A" "" "DUPLICATE – to be removed" "" "623C>T (Ala208Val)" "" "Germline" "" "" "0" "" "" "g.45332599G>A" "" "VUS" "" "0000368093" "0" "50" "1" "45805907" "45805907" "subst" "0" "00770" "MUTYH_000256" "g.45805907C>T" "" "DUPLICATE – to be removed" "" "20G>A (Arg7His)" "" "Germline" "" "" "0" "" "" "g.45340235C>T" "" "VUS" "" "0000368094" "0" "50" "1" "45797046" "45797046" "subst" "0.000105581" "00770" "MUTYH_000258" "g.45797046A>G" "" "DUPLICATE – to be removed" "" "1282-40T>C = 1281+46T>C" "" "Germline" "" "" "0" "" "" "g.45331374A>G" "" "VUS" "" "0000368095" "0" "50" "1" "45798888" "45798888" "subst" "8.12612E-6" "00770" "MUTYH_000259" "g.45798888C>T" "" "DUPLICATE – to be removed" "" "347-46G>A" "" "Germline" "" "" "0" "" "" "g.45333216C>T" "" "VUS" "" "0000368096" "0" "50" "1" "45798781" "45798781" "subst" "7.71567E-5" "00770" "MUTYH_000260" "g.45798781G>A" "" "DUPLICATE – to be removed" "" "408C>T (Thr136Thr)" "" "Germline" "" "" "0" "" "" "g.45333109G>A" "" "VUS" "" "0000368097" "0" "50" "1" "45796881" "45796881" "subst" "0.00295618" "00770" "MUTYH_000261" "g.45796881G>A" "" "DUPLICATE – to be removed" "" "1407C>T (Thr469Thr)" "" "Germline" "" "" "0" "" "" "g.45331209G>A" "" "VUS" "" "0000368098" "0" "50" "1" "45800178" "45800178" "subst" "9.33995E-5" "00770" "MUTYH_000262" "g.45800178G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334506G>A" "" "VUS" "" "0000368099" "0" "70" "1" "45797915" "45797915" "del" "0" "00770" "MUTYH_000263" "g.45797915del" "" "DUPLICATE – to be removed" "" "817delG (Ala273ProfsX32)" "" "Germline" "" "" "0" "" "" "g.45332243del" "" "likely pathogenic" "" "0000368100" "0" "50" "1" "45800122" "45800122" "subst" "4.06062E-6" "00770" "MUTYH_000264" "g.45800122T>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45334450T>G" "" "VUS" "" "0000368101" "0" "50" "1" "45799275" "45799275" "subst" "0" "00770" "MUTYH_000265" "g.45799275G>C" "" "DUPLICATE – to be removed" "" "158-42C>G (?)" "" "Germline" "" "" "0" "" "" "g.45333603G>C" "" "VUS" "" "0000368102" "0" "50" "1" "45799143" "45799143" "subst" "1.21819E-5" "00770" "MUTYH_000266" "g.45799143C>T" "" "DUPLICATE – to be removed" "" "248G>A (Arg83Gln)" "" "Germline" "" "" "0" "" "" "g.45333471C>T" "" "VUS" "" "0000368103" "0" "50" "1" "45798914" "45798914" "subst" "4.06286E-6" "00770" "MUTYH_000267" "g.45798914G>A" "" "DUPLICATE – to be removed" "" "346+43C>T" "" "Germline" "" "" "0" "" "" "g.45333242G>A" "" "VUS" "" "0000368104" "0" "70" "1" "45798819" "45798819" "subst" "0" "00770" "MUTYH_000268" "g.45798819G>A" "" "DUPLICATE – to be removed" "" "370C>T Gln124X" "" "Germline" "" "" "0" "" "" "g.45333147G>A" "" "likely pathogenic" "" "0000368105" "0" "50" "1" "45797885" "45797885" "subst" "5.69018E-5" "00770" "MUTYH_000269" "g.45797885G>A" "" "DUPLICATE – to be removed" "" "844C>T (Leu282Leu)" "" "Germline" "" "" "0" "" "" "g.45332213G>A" "" "VUS" "" "0000368106" "0" "50" "1" "45797569" "45797569" "subst" "1.29026E-5" "00770" "MUTYH_000270" "g.45797569G>A" "" "DUPLICATE – to be removed" "" "956-48C>T; 955+126C>T" "" "Germline" "" "" "0" "" "" "g.45331897G>A" "" "VUS" "" "0000368107" "0" "50" "1" "45797545" "45797545" "subst" "0" "00770" "MUTYH_000271" "g.45797545C>T" "" "DUPLICATE – to be removed" "" "956-24G>A" "" "Germline" "" "" "0" "" "" "g.45331873C>T" "" "VUS" "" "0000368108" "0" "50" "1" "45797499" "45797499" "subst" "0" "00770" "MUTYH_000272" "g.45797499G>C" "" "DUPLICATE – to be removed" "" "978C>G (His326Gln)" "" "Germline" "" "" "0" "" "" "g.45331827G>C" "" "VUS" "" "0000368109" "0" "50" "1" "45797429" "45797429" "subst" "8.14903E-6" "00770" "MUTYH_000273" "g.45797429G>A" "" "DUPLICATE – to be removed" "" "1048C>T (Arg350Cys)" "" "Germline" "" "" "0" "" "" "g.45331757G>A" "" "VUS" "" "0000368110" "0" "70" "1" "45797357" "45797358" "del" "0" "00770" "MUTYH_000274" "g.45797357_45797358del" "" "DUPLICATE – to be removed" "" "1120_1121del (Leu374AlafsX143)" "" "Germline" "" "" "0" "" "" "g.45331685_45331686del" "" "likely pathogenic" "" "0000368111" "0" "50" "1" "45797346" "45797346" "subst" "0" "00770" "MUTYH_000275" "g.45797346C>T" "" "DUPLICATE – to be removed" "" "1131G>A (Gln377Gln)" "" "Germline" "" "" "0" "" "" "g.45331674C>T" "" "VUS" "" "0000368112" "0" "70" "1" "45797175" "45797175" "subst" "5.28666E-5" "00770" "MUTYH_000276" "g.45797175G>A" "" "DUPLICATE – to be removed" "" "1198C>T (Gln400X)" "" "Germline" "" "" "0" "" "" "g.45331503G>A" "" "likely pathogenic" "" "0000368113" "0" "50" "1" "45796910" "45796910" "subst" "4.46668E-5" "00770" "MUTYH_000277" "g.45796910G>A" "" "DUPLICATE – to be removed" "" "1378C>T (Arg460Cys)" "" "Germline" "" "" "0" "" "" "g.45331238G>A" "" "VUS" "" "0000368114" "0" "50" "1" "45796162" "45796162" "subst" "0" "00770" "MUTYH_000278" "g.45796162G>A" "" "DUPLICATE – to be removed" "" "1476+26C>T" "" "Germline" "" "" "0" "" "" "g.45330490G>A" "" "VUS" "" "0000368115" "0" "50" "1" "45796159" "45796159" "subst" "0" "00770" "MUTYH_000279" "g.45796159C>T" "" "DUPLICATE – to be removed" "" "1476+29G>A" "" "Germline" "" "" "0" "" "" "g.45330487C>T" "" "VUS" "" "0000368116" "0" "50" "1" "45797160" "45797160" "subst" "6.90956E-5" "00770" "MUTYH_000280" "g.45797160C>T" "" "DUPLICATE – to be removed" "" "1213G>A (Ala405Thr)" "" "Germline" "" "" "0" "" "" "g.45331488C>T" "" "VUS" "" "0000368117" "0" "50" "1" "45796852" "45796852" "subst" "0.000121821" "00770" "MUTYH_000281" "g.45796852G>A" "" "DUPLICATE – to be removed" "" "1434+2C>T (Val429_Val479del)" "" "Germline" "" "" "0" "" "" "g.45331180G>A" "" "VUS" "" "0000368118" "0" "50" "1" "45799181" "45799181" "subst" "0" "00770" "MUTYH_000282" "g.45799181G>A" "" "DUPLICATE – to be removed" "" "210C>T (Tyr70Tyr)" "" "Germline" "" "" "0" "" "" "g.45333509G>A" "" "VUS" "" "0000368119" "0" "50" "1" "45798862" "45798862" "subst" "4.0627E-6" "00770" "MUTYH_000283" "g.45798862A>G" "" "DUPLICATE – to be removed" "" "347-20T>C" "" "Germline" "" "" "0" "" "" "g.45333190A>G" "" "VUS" "" "0000368120" "0" "50" "1" "45798234" "45798234" "subst" "0" "00770" "MUTYH_000284" "g.45798234C>T" "" "DUPLICATE – to be removed" "" "648+12C>A" "" "Germline" "" "" "0" "" "" "g.45332562C>T" "" "VUS" "" "0000368121" "0" "50" "1" "45796267" "45796267" "subst" "2.36063E-5" "00770" "MUTYH_000285" "g.45796267T>C" "" "DUPLICATE – to be removed" "" "1435-38A>G" "" "Germline" "" "" "0" "" "" "g.45330595T>C" "" "VUS" "" "0000368122" "0" "50" "1" "45796161" "45796161" "subst" "0" "00770" "MUTYH_000286" "g.45796161C>T" "" "DUPLICATE – to be removed" "" "1476+27G>A" "" "Germline" "" "" "0" "" "" "g.45330489C>T" "" "VUS" "" "0000368123" "0" "50" "1" "45791154" "45791154" "subst" "0" "00770" "MUTYH_000287" "g.45791154G>A" "" "DUPLICATE – to be removed" "" "g.15763072G>A" "" "Germline" "" "rs10890324" "0" "" "" "g.45325482G>A" "" "VUS" "" "0000368124" "0" "50" "1" "45808863" "45808863" "subst" "0.0238778" "00770" "MUTYH_000288" "g.45808863G>A" "" "DUPLICATE – to be removed" "" "NT_032977.9:g.15780781G>A; rs9429157" "" "Germline" "" "rs9429157" "0" "" "" "g.45343191G>A" "" "VUS" "" "0000368125" "0" "50" "1" "45797707" "45797707" "subst" "8.52882E-5" "00770" "MUTYH_000289" "g.45797707C>T" "" "DUPLICATE – to be removed" "" "943G>A (Val315Met); V315M" "" "Germline" "" "" "0" "" "" "g.45332035C>T" "" "VUS" "" "0000368126" "0" "50" "1" "45804426" "45804426" "dup" "0" "00770" "MUTYH_000290" "g.45804426dup" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs63261960" "0" "" "" "g.45338754dup" "" "VUS" "" "0000368127" "0" "50" "1" "45804427" "45804428" "del" "0" "00770" "MUTYH_000291" "g.45804427_45804428del" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs71667141" "0" "" "" "g.45338755_45338756del" "" "VUS" "" "0000368128" "0" "50" "1" "45804424" "45804425" "ins" "0" "00770" "MUTYH_000292" "g.45804424_45804425insGT" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs35518179" "0" "" "" "g.45338752_45338753insGT" "" "VUS" "" "0000368129" "0" "50" "1" "45804423" "45804424" "ins" "0" "00770" "MUTYH_000293" "g.45804423_45804424insGT" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs10638672" "0" "" "" "g.45338751_45338752insGT" "" "VUS" "" "0000368130" "0" "50" "1" "45804329" "45804329" "dup" "0" "00770" "MUTYH_000294" "g.45804329dup" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs34686049" "0" "" "" "g.45338657dup" "" "VUS" "" "0000368131" "0" "50" "1" "45804089" "45804089" "subst" "0" "00770" "MUTYH_000295" "g.45804089C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219471" "0" "" "" "g.45338417C>T" "" "VUS" "" "0000368132" "0" "50" "1" "45803947" "45803947" "dup" "0" "00770" "MUTYH_000296" "g.45803947dup" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs35804643" "0" "" "" "g.45338275dup" "" "VUS" "" "0000368133" "0" "50" "1" "45803946" "45803946" "subst" "0" "00770" "MUTYH_000297" "g.45803946G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219473" "0" "" "" "g.45338274G>A" "" "VUS" "" "0000368134" "0" "50" "1" "45803540" "45803540" "subst" "0" "00770" "MUTYH_000298" "g.45803540G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs7522089" "0" "" "" "g.45337868G>A" "" "VUS" "" "0000368135" "0" "50" "1" "45803413" "45803413" "subst" "0" "00770" "MUTYH_000299" "g.45803413A>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219474" "0" "" "" "g.45337741A>G" "" "VUS" "" "0000368136" "0" "50" "1" "45803117" "45803117" "subst" "0" "00770" "MUTYH_000300" "g.45803117C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219475" "0" "" "" "g.45337445C>T" "" "VUS" "" "0000368137" "0" "50" "1" "45802836" "45802836" "subst" "0" "00770" "MUTYH_000301" "g.45802836G>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs61789858" "0" "" "" "g.45337164G>T" "" "VUS" "" "0000368138" "0" "50" "1" "45802322" "45802322" "subst" "0" "00770" "MUTYH_000302" "g.45802322A>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219477" "0" "" "" "g.45336650A>G" "" "VUS" "" "0000368139" "0" "50" "1" "45802185" "45802185" "subst" "0" "00770" "MUTYH_000303" "g.45802185A>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219478" "0" "" "" "g.45336513A>G" "" "VUS" "" "0000368140" "0" "50" "1" "45801981" "45801981" "subst" "0" "00770" "MUTYH_000304" "g.45801981C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219480" "0" "" "" "g.45336309C>T" "" "VUS" "" "0000368141" "0" "50" "1" "45801930" "45801930" "subst" "0" "00770" "MUTYH_000305" "g.45801930A>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs28871870" "0" "" "" "g.45336258A>G" "" "VUS" "" "0000368142" "0" "50" "1" "45801375" "45801375" "subst" "0" "00770" "MUTYH_000306" "g.45801375A>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs7550250" "0" "" "" "g.45335703A>C" "" "VUS" "" "0000368143" "0" "50" "1" "45801257" "45801257" "subst" "0" "00770" "MUTYH_000307" "g.45801257G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219481" "0" "" "" "g.45335585G>A" "" "VUS" "" "0000368144" "0" "50" "1" "45801223" "45801223" "subst" "0" "00770" "MUTYH_000308" "g.45801223T>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219482" "0" "" "" "g.45335551T>C" "" "VUS" "" "0000368145" "0" "50" "1" "45801198" "45801198" "subst" "0" "00770" "MUTYH_000309" "g.45801198T>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs3219483" "0" "" "" "g.45335526T>C" "" "VUS" "" "0000368146" "0" "50" "1" "45800273" "45800273" "dup" "0" "00770" "MUTYH_000310" "g.45800273dup" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs35203418" "0" "" "" "g.45334601dup" "" "VUS" "" "0000368147" "0" "50" "1" "45797406" "45797406" "subst" "0" "00770" "MUTYH_000311" "g.45797406G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs61751011" "0" "" "" "g.45331734G>A" "" "VUS" "" "0000368148" "0" "50" "1" "45796848" "45796848" "subst" "0" "00770" "MUTYH_000312" "g.45796848T>G" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs4660848" "0" "" "" "g.45331176T>G" "" "VUS" "" "0000368149" "0" "50" "1" "45795923" "45795924" "del" "0" "00770" "MUTYH_000313" "g.45795923_45795924del" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs61347720" "0" "" "" "g.45330251_45330252del" "" "VUS" "" "0000368150" "0" "50" "1" "45795545" "45795545" "subst" "0" "00770" "MUTYH_000315" "g.45795545C>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs10890325" "0" "" "" "g.45329873C>T" "" "VUS" "" "0000368151" "0" "50" "1" "45795070" "45795070" "del" "0" "00770" "MUTYH_000316" "g.45795070del" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs34961970" "0" "" "" "g.45329398del" "" "VUS" "" "0000368152" "0" "50" "1" "45794616" "45794616" "dup" "0" "00770" "MUTYH_000317" "g.45794616dup" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "rs71052867" "0" "" "" "g.45328944dup" "" "VUS" "" "0000368153" "0" "90" "1" "45800059" "45800059" "subst" "0" "00770" "MUTYH_000318" "g.45800059C>G" "" "DUPLICATE – to be removed" "" "156+5G>C ?" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000368154" "0" "90" "1" "45799075" "45799075" "subst" "0" "00770" "MUTYH_000321" "g.45799075G>A" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45333403G>A" "" "pathogenic" "" "0000368155" "0" "90" "1" "45794768" "45799052" "delins" "0" "00770" "MUTYH_000323" "g.45794768_45799052delinsTA" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45329096_45333380delinsTA" "" "pathogenic" "" "0000368156" "0" "70" "1" "45797974" "45797974" "subst" "8.1642E-6" "00770" "MUTYH_000325" "g.45797974G>C" "" "DUPLICATE – to be removed" "" "755C>G Ala252Gly" "" "Germline" "" "" "0" "" "" "g.45332302G>C" "" "likely pathogenic" "" "0000368157" "0" "50" "1" "45797952" "45797952" "subst" "1.2242E-5" "00770" "MUTYH_000326" "g.45797952G>C" "" "DUPLICATE – to be removed" "" "777C>G (Ala273) Ala259" "" "Germline" "" "" "0" "" "" "g.45332280G>C" "" "VUS" "" "0000368158" "0" "50" "1" "45797519" "45797519" "subst" "1.33412E-5" "00770" "MUTYH_000327" "g.45797519G>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45331847G>C" "" "VUS" "" "0000368159" "0" "50" "1" "45798776" "45798776" "subst" "0" "00770" "MUTYH_000328" "g.45798776T>C" "" "DUPLICATE – to be removed" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000368160" "0" "50" "1" "45796973" "45796973" "subst" "0" "00770" "MUTYH_000329" "g.45796973A>T" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45331301A>T" "" "VUS" "" "0000368161" "0" "70" "1" "45797836" "45797836" "subst" "0" "00770" "MUTYH_000330" "g.45797836A>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45332164A>C" "" "likely pathogenic" "" "0000368162" "0" "50" "1" "45798364" "45798364" "subst" "4.06068E-6" "00770" "MUTYH_000331" "g.45798364T>C" "" "DUPLICATE – to be removed" "" "" "" "Germline" "" "" "0" "" "" "g.45332692T>C" "" "VUS" "" "0000368163" "0" "50" "1" "45797099" "45797099" "subst" "4.06187E-6" "00770" "MUTYH_000332" "g.45797099A>G" "" "DUPLICATE – to be removed" "" "1316T>C Leu439Pro" "" "Germline" "" "" "0" "" "" "g.45331427A>G" "" "VUS" "" "0000368164" "0" "50" "1" "45797227" "45797227" "subst" "0" "00770" "MUTYH_000333" "g.45797227A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331555A>G" "" "VUS" "" "0000417818" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "02181" "MUTYH_000019" "g.45797846G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000417819" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00770" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417820" "3" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00770" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cohen et al. 2016:27014339}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417821" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02181" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417822" "0" "50" "1" "45798613" "45798613" "subst" "8.56437E-5" "02181" "MUTYH_000225" "g.45798613C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.45332941C>G" "" "VUS" "" "0000417823" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Görgens 2006:16645203}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000417824" "1" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1/50 (2%) HNPCC patients (42/50 <50 years); (0% of 116 controls)" "{PMID:Görgens 2006:16645203}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000417825" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "0,9% of 116 controls); (0/50 HNPCC patients (42/50 <50 years))" "{PMID:Görgens 2006:16645203}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417826" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "11/50 (22%) HNPCC patients (42/50 <50 years); (35.3% of 116 controls)" "{PMID:Görgens 2006:16645203}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000417827" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Görgens 2006:16645203}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000417828" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Görgens 2006:16645203}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417829" "0" "50" "1" "45796212" "45796212" "subst" "8.40838E-6" "02939" "MUTYH_000117" "g.45796212C>G" "" "{PMID:Görgens 2006:16645203}" "" "1452G>C (Gln484His)" "" "Unknown" "" "" "0" "" "" "g.45330540C>G" "" "VUS" "" "0000417830" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Görgens 2006:16645203}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000417831" "0" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "" "{PMID:Görgens 2006:16645203}" "" "" "" "Unknown" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000417832" "1" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "" "{PMID:Görgens 2006:16645203}" "" "" "" "Unknown" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000417833" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Görgens 2006:16645203}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000417834" "1" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Görgens 2006:16645203}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000417835" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "12/50 (12%) HNPCC patients (42/50 <50 years); (1.7% (?) of 116 controls)" "{PMID:Görgens 2006:16645203}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000417836" "1" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "0,9% of 116 controls); (0/50 HNPCC patients (42/50 <50 years))" "{PMID:Görgens 2006:16645203}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000417837" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Eliason 2005:15635083}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417838" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Eliason 2005:15635083}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417839" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Eliason 2005:15635083}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417840" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417841" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "891+3A>C" "" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000417842" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000417843" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417844" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417845" "0" "50" "1" "45797037" "45797067" "del" "0" "02939" "MUTYH_000118" "g.45797037_45797067del" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1281+25_1282-31del; 1281+25del30" "Alamut: no major effect on donor and acceptor splice sites of intron 13; might affect branch point" "Unknown" "" "" "0" "" "" "g.45331365_45331395del" "" "VUS" "" "0000417846" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417847" "0" "70" "1" "45797752" "45797752" "subst" "1.21828E-5" "02939" "MUTYH_000119" "g.45797752G>A" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "898C>T (Gln300X)" "" "Unknown" "" "" "0" "" "" "g.45332080G>A" "" "likely pathogenic" "" "0000417848" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417849" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417850" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Eliason 2005:15635083}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417851" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417852" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417853" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417854" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417855" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "1/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "891+3A>C" "" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000417856" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417857" "0" "70" "1" "45798350" "45798350" "subst" "4.06072E-6" "02939" "MUTYH_000120" "g.45798350C>A" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "544G>T (Glu182X)" "" "Unknown" "" "" "0" "" "" "g.45332678C>A" "" "likely pathogenic" "" "0000417858" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000417859" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417860" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/219 APC neg FAP patients; 6/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417861" "1" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1396G>T (Glu466X)" "" "Unknown" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000417862" "1" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417863" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "1/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000417864" "0" "50" "1" "45797523" "45797523" "subst" "0" "02939" "MUTYH_000121" "g.45797523T>C" "1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients" "{PMID:Eliason 2005:15635083}" "" "956-2A>G (Ala319_Ser381del)" "Alamut: splice acceptor site of intron 11 affected, probably leading to skipping of exon 12" "Unknown" "" "" "0" "" "" "g.45331851T>C" "" "VUS" "" "0000417865" "0" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "1/120 CRC cases (1/100 controls)" "{PMID:Dolwani 2007:17369389}" "" "1396G>T (Glu466X)" "" "Unknown" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000417866" "0" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "" "{PMID:Dolwani 2007:17369389}" "" "1396G>T (Glu466X)" "" "Unknown" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000417867" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Dolwani 2007:17369389}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417868" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Dolwani 2007:17369389}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417869" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Dolwani 2007:17369389}" "" "270C>A (Tyr90X)" "" "Unknown" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000417870" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417871" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "V22M" "V22M in 2/29 monoallelic Y165C or G382D carrying patients; 0/21 mono allelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000417872" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417873" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000417874" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000417875" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417876" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "Only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417877" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417878" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "270C>A (Tyr90X); Y90X" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000417879" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417880" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417881" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "891+3A>C" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000417882" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417883" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "891+3A>C" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000417884" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients, 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417885" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417886" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417887" "1" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "1/38 (3%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417888" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417889" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417890" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417891" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417892" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02939" "MUTYH_000081" "g.45797139G>A" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "1234C>T (Arg412Cys)" "" "Unknown" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000417893" "1" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417894" "0" "50" "1" "45797356" "45797356" "subst" "0" "02939" "MUTYH_000071" "g.45797356A>G" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "1121T>C (Leu374Pro)" "" "Unknown" "" "" "0" "" "" "g.45331684A>G" "" "VUS" "" "0000417895" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417896" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417897" "1" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "02939" "MUTYH_000051" "g.45798117C>T" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "692G>A (Arg231His)" "" "Unknown" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000417898" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417899" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417900" "0" "50" "1" "45797951" "45797951" "subst" "8.16247E-6" "02939" "MUTYH_000054" "g.45797951G>A" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "778C>T (Arg260Trp)" "" "Unknown" "" "" "0" "" "" "g.45332279G>A" "" "VUS" "" "0000417901" "0" "50" "1" "45798137" "45798137" "subst" "1.22122E-5" "02939" "MUTYH_000048" "g.45798137G>A" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "672C>T (Asn224Asn)" "" "Unknown" "" "" "0" "" "" "g.45332465G>A" "" "VUS" "" "0000417902" "1" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls" "{PMID:Aceto 2005:16134147}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000417903" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "2/31 (6%) APC neg AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417904" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/31 (6%) APC neg AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417905" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417906" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417907" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417908" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Enholm 2003:12937124}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417909" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Enholm 2003:12937124}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417910" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "3/1003 (0,3%) patients with >3 polyps, 0/424 Finnish controls, Prev. rep. by Sieber" "{PMID:Enholm 2003:12937124}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417911" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "3/1003 (0,3%) patients with >3 polyps, 0/424 Finnish controls, Prev. rep. by Sieber" "{PMID:Enholm 2003:12937124}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417912" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Enholm 2003:12937124}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417913" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Enholm 2003:12937124}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417914" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Enholm 2003:12937124}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417915" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Enholm 2003:12937124}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417916" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Enholm 2003:12937124}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417917" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Enholm 2003:12937124}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417918" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Enholm 2003:12937124}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417919" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Enholm 2003:12937124}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417920" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "2/31 (6%) APC neg. AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; , 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417921" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/31 (6%) APC neg. AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; , 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417922" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417923" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417924" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417925" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417926" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/31 (3%) APC neg. AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417927" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "1/31 (3%) APC neg. AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000417928" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls" "{PMID:Gismondi 2004:14999774}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417929" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "1/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000417930" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417931" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417932" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417933" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417934" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417935" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417936" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417937" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417938" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417939" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417940" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417941" "0" "70" "1" "45796870" "45796870" "del" "0" "02939" "MUTYH_000090" "g.45796870del" "1/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}" "" "1419del; 1419delC (Thr474ProfsX)" "" "Unknown" "" "" "0" "" "" "g.45331198del" "" "likely pathogenic" "" "0000417942" "0" "70" "1" "45799144" "45799144" "subst" "1.21819E-5" "02939" "MUTYH_000029" "g.45799144G>A" "1/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}" "" "247C>T (Arg83X)" "" "Unknown" "" "" "0" "" "" "g.45333472G>A" "" "likely pathogenic" "" "0000417943" "1" "70" "1" "45799141" "45799141" "del" "0" "00645" "MUTYH_000030" "g.45799141del" "" "{PMID:Sieber 2003:12606733}; {PMID:Russell 2006:16287072}" "" "252delG (Ser85AlafsX3); G84fs" "" "Unknown" "" "" "0" "" "" "g.45333469del" "" "likely pathogenic" "" "0000417944" "2" "70" "1" "45798773" "45798778" "dup" "0" "00645" "MUTYH_000037" "g.45798773_45798778dup" "" "{PMID:Sieber 2003:12606733}; {PMID:Russell 2006:16287072}" "" "411_416dup; 411dupATGGAT (Trp138_Met139insIleTrp); W138_M139insIW" "" "Unknown" "" "" "0" "" "" "g.45333101_45333106dup" "" "likely pathogenic" "" "0000417945" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417946" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/107 UK classic FAP patients APC negative" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417947" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417948" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/107 UK classic FAP patients APC negative" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417949" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417950" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417951" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417952" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417953" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/107 UK classic FAP patients APC negative" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417954" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/107 UK classic FAP patients APC negative" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417955" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417956" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417957" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417958" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "02939" "MUTYH_000045" "g.45798269T>C" "" "{PMID:Sieber 2003:12606733}" "" "625A>G (Ile209Val)" "" "Unknown" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000417959" "0" "70" "1" "45798115" "45798115" "subst" "5.70395E-5" "02939" "MUTYH_000053" "g.45798115C>A" "" "{PMID:Sieber 2003:12606733}" "" "694G>T (Val232Phe)" "" "Unknown" "" "" "0" "" "" "g.45332443C>A" "" "likely pathogenic" "" "0000417960" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Sieber 2003:12606733}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417961" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "02939" "MUTYH_000019" "g.45797846G>A" "1/152 UK patients with 3-100 polyps" "{PMID:Sieber 2003:12606733}" "" "883C>T (Arg295Cys)" "" "Unknown" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000417962" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Bouguen 2007:17674103}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417963" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Bouguen 2007:17674103}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417964" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Bouguen 2007:17674103}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417965" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Bouguen 2007:17674103}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417966" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Bouguen 2007:17674103}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000417967" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Bouguen 2007:17674103}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417968" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Bouguen 2007:17674103}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417969" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Bouguen 2007:17674103}" "" "891+3A>C" "" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000417970" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Bouguen 2007:17674103}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417971" "0" "70" "1" "45797507" "45797507" "subst" "6.56846E-5" "02939" "MUTYH_000062" "g.45797507G>A" "" "{PMID:Bouguen 2007:17674103}" "" "970C>T (Gln324X)" "" "Unknown" "" "" "0" "" "" "g.45331835G>A" "" "likely pathogenic" "" "0000417972" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Bouguen 2007:17674103}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417973" "0" "90" "1" "45797188" "45797189" "dup" "0" "02939" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Bouguen 2007:17674103}" "" "1185_1186dup (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000417974" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Bouguen 2007:17674103}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417975" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Bouguen 2007:17674103}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417976" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Bouguen 2007:17674103}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000417977" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02939" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Bouguen 2007:17674103}" "" "1172C>T (Pro391Leu)" "" "Unknown" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000417978" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Bouguen 2007:17674103}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417979" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Bouguen 2007:17674103}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000417980" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Bouguen 2007:17674103}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417981" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/250 (0.4%) patients" "{PMID:Shin 2007:17219200}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417982" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1/250 (0.4%) patients" "{PMID:Shin 2007:17219200}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000417983" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Shin 2007:17219200}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000417984" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Shin 2007:17219200}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000417985" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "12% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family)" "{PMID:Shin 2007:17219200}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000417986" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "12% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family)" "{PMID:Shin 2007:17219200}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000417987" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "12% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family)" "{PMID:Shin 2007:17219200}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000417988" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1/24 individuals (22 families). FAP: 19, AFAP: 3" "{PMID:Alhopuro 2005:16134146}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000417989" "0" "50" "1" "45799121" "45799121" "subst" "0.00142938" "02939" "MUTYH_000031" "g.45799121G>A" "1/24 individuals (22 families). FAP: 19, AFAP: 3" "{PMID:Alhopuro 2005:16134146}" "" "270C>T" "" "Unknown" "" "" "0" "" "" "g.45333449G>A" "" "VUS" "" "0000417990" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Alhopuro 2005:16134146}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000417991" "1" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "2/24 individuals (22 families); FAP: 19, AFAP: 3" "{PMID:Alhopuro 2005:16134146}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000417992" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1/24 individuals (22 families). FAP: 19, AFAP: 3" "{PMID:Alhopuro 2005:16134146}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000417993" "1" "50" "1" "45796912" "45796912" "subst" "2.84243E-5" "02939" "MUTYH_000123" "g.45796912G>T" "1/24 individuals (22 families). FAP: 19, AFAP: 3; 0/85 controls" "{PMID:Alhopuro 2005:16134146}" "" "1376C>A (Ala459Asp)" "" "Unknown" "" "" "0" "" "" "g.45331240G>T" "" "VUS" "" "0000417994" "0" "50" "1" "45796912" "45796912" "subst" "2.84243E-5" "02939" "MUTYH_000123" "g.45796912G>T" "1/24 individuals (22 families). FAP: 19, AFAP: 3; 0/85 controls" "{PMID:Alhopuro 2005:16134146}" "" "1376C>A (Ala459Asp)" "" "Unknown" "" "" "0" "" "" "g.45331240G>T" "" "VUS" "" "0000417995" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/24 individuals (22 families). FAP: 19, AFAP: 3; 0/85 controls" "{PMID:Alhopuro 2005:16134146}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000417996" "1" "50" "1" "45796912" "45796912" "subst" "2.84243E-5" "02939" "MUTYH_000123" "g.45796912G>T" "" "{PMID:Alhopuro 2005:16134146}" "" "1376C>A (Ala459Asp)" "" "Unknown" "" "" "0" "" "" "g.45331240G>T" "" "VUS" "" "0000417997" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "" "{PMID:Kambara 2004:15034862}" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000417998" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "" "{PMID:Kambara 2004:15034862}" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000417999" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "" "{PMID:Kambara 2004:15034862}" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000418000" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "12 Sporadic CRC patients" "{PMID:Kambara 2004:15034862}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418001" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Kambara 2004:15034862}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418002" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kambara 2004:15034862}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418003" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Kambara 2004:15034862}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418004" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kambara 2004:15034862}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418005" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kambara 2004:15034862}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418006" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kambara 2004:15034862}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418007" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kambara 2004:15034862}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418008" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Kambara 2004:15034862}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418009" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Kambara 2004:15034862}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418010" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vandrovcová 2004:15024739}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418011" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vandrovcová 2004:15024739}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418012" "1" "70" "1" "45797342" "45797342" "del" "0" "00640" "MUTYH_000073" "g.45797342del" "" "{PMID:Lipton 2003:14633673}" "" "1136del (Asn380ThrfsX14)" "" "Unknown" "" "" "0" "" "" "g.45331670del" "" "likely pathogenic" "" "0000418013" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Lipton 2003:14633673}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418014" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2006:16943222}, {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418015" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2006:16943222}, {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418016" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418017" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418018" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418019" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418020" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418021" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418022" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418023" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418024" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418025" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418026" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418027" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418028" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418029" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418030" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418031" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418032" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418033" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418034" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418035" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418036" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418037" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418038" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418039" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418040" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418041" "2" "70" "1" "45798112" "45798112" "subst" "4.08383E-6" "00640" "MUTYH_000016" "g.45798112G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "697C>T (Arg233X)" "" "Germline" "" "" "0" "" "" "g.45332440G>A" "" "likely pathogenic" "" "0000418042" "1" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418043" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418044" "1" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418045" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418046" "1" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418047" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418048" "1" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418049" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418050" "1" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418051" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418052" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418053" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418054" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418055" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418056" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418057" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418058" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418059" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418060" "1" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418061" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418062" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418063" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418064" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418065" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418066" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418067" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418068" "1" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418069" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418070" "1" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418071" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418072" "1" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418073" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418074" "1" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418075" "2" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00640" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000418076" "1" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1185_1186dup (Glu396GlyfsX43)" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418077" "2" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1185_1186dup (Glu396GlyfsX43)" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418078" "1" "70" "1" "45797348" "45797348" "subst" "1.62882E-5" "00640" "MUTYH_000072" "g.45797348G>A" "" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1129C>T (Gln377X)" "" "Germline" "" "" "0" "" "" "g.45331676G>A" "" "likely pathogenic" "" "0000418079" "2" "70" "1" "45797348" "45797348" "subst" "1.62882E-5" "00640" "MUTYH_000072" "g.45797348G>A" "" "{PMID:Nielsen 2005:16140997}, {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1129C>T (Gln377X)" "" "Germline" "" "" "0" "" "" "g.45331676G>A" "" "likely pathogenic" "" "0000418080" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418081" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Middeldorp 2008:18506705}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418082" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418083" "2" "50" "1" "45798161" "45798161" "subst" "0" "00640" "MUTYH_000014" "g.45798161C>T" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2007:17489848}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "649-1G>A (Ala217GlyfsX65)" "Alamut: acceptor splice site of intron 8 affected; skip exon 9 very likely (or retaining of intron 9 possible? Also strong acceptor at c.691-32 and new stong acceptor at c.692)" "Germline" "" "" "0" "" "" "g.45332489C>T" "" "VUS" "" "0000418084" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418085" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418086" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418087" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418088" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418089" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418090" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418091" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418092" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418093" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}; {PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}, {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418094" "1" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "00640" "MUTYH_000088" "g.45796892C>A" "" "{PMID:Jones 2002:12393807}; {OMIM604933:0005}" "" "1396G>T (Glu466X)" "" "Unknown" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000418095" "2" "50" "1" "45797902" "45797902" "subst" "0" "00640" "MUTYH_000058" "g.45797902C>T" "" "{PMID:Fleischmann 2004:14991577}" "" "827G>A (Cys276Trp)" "" "Unknown" "" "" "0" "" "" "g.45332230C>T" "" "VUS" "" "0000418096" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Fleischmann 2004:14991577}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418097" "1" "50" "1" "45797202" "45797202" "subst" "0" "00640" "MUTYH_000076" "g.45797202G>A" "1/95 gastric tumors; somatic mutation" "{PMID:Kim 2004:15273732}; {OMIM604933:0006}" "" "1171C>T (Pro391Ser)" "" "Unknown" "" "" "0" "" "" "g.45331530G>A" "" "VUS" "" "0000418098" "2" "50" "1" "45797174" "45797174" "subst" "0" "00640" "MUTYH_000079" "g.45797174T>C" "1/95 gastric tumors; somatic mutation" "{PMID:Kim 2004:15273732}; {OMIM604933:0007}" "" "1199A>G (Gln400Arg)" "" "Unknown" "" "" "0" "" "" "g.45331502T>C" "" "VUS" "" "0000418099" "1" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Baglioni 2005:15690400}; {OMIM604933:0008}" "" "1185_1186dup (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418100" "2" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Baglioni 2005:15690400}; {OMIM604933:0008}" "" "1185_1186dup (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418103" "1" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00640" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Nielsen 2009b:19527492};Clinical Genetics, LUMC, Leiden, NL" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000418104" "2" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00640" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Nielsen 2009b:19527492};Clinical Genetics, LUMC, Leiden, NL" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000418105" "1" "90" "1" "45797534" "45797534" "subst" "0" "00579" "MUTYH_000101" "g.45797534A>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "956-13T>G (Ala319GlyfsX83)" "aberrant splicing" "Unknown" "" "" "0" "" "" "g.45331862A>C" "" "pathogenic" "" "0000418106" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418107" "0" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00100" "MUTYH_000018" "g.45797887G>A" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000418108" "0" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "8/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418109" "0" "70" "1" "45799144" "45799144" "subst" "1.21819E-5" "00100" "MUTYH_000029" "g.45799144G>A" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "247C>T (Arg83X)" "" "Germline" "" "" "0" "" "" "g.45333472G>A" "" "likely pathogenic" "" "0000418110" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00100" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418111" "0" "50" "1" "45798624" "45798624" "subst" "0" "00100" "MUTYH_000038" "g.45798624G>A" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "428C>T (Pro143Leu)" "" "Germline" "" "" "0" "" "" "g.45332952G>A" "" "VUS" "" "0000418112" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418113" "0" "90" "1" "45797942" "45797947" "dup" "0" "00100" "MUTYH_000056" "g.45797942_45797947dup" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "782_787dup; 782_787dupCAGGAG; (Gly262_Asp263insAlaGly); p263insAG" "" "Germline" "" "" "0" "" "" "g.45332270_45332275dup" "" "pathogenic" "" "0000418114" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418115" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418116" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2005:16140997}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418117" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418118" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2005:16140997}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418119" "0" "50" "1" "45797381" "45797381" "subst" "0" "00640" "MUTYH_000068" "g.45797381G>T" "" "{PMID:Nielsen 2005:16140997}" "" "1096C>A (Pro366Thr)" "" "Germline" "" "" "0" "" "" "g.45331709G>T" "" "VUS" "" "0000418120" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "00640" "MUTYH_000007" "g.45799120C>T" "" "{PMID:Nielsen 2005:16140997}" "" "271G>A (Asp91Asn)" "" "Germline" "" "" "0" "" "" "g.45333448C>T" "" "VUS" "" "0000418121" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Shinmura 2001:11295288}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418122" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "00640" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Shinmura 2001:11295288}" "" "" "In N-terminal mitochondrial targeting signal (Shinmura 2001)" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418123" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "00640" "MUTYH_000085" "g.45796899C>G" "" "{PMID:Shinmura 2001:11295288}" "" "1389G>C (Thr463Thr)" "" "Unknown" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418124" "0" "50" "1" "45800167" "45800167" "subst" "0.00103553" "00640" "MUTYH_000024" "g.45800167G>A" "" "{PMID:Shinmura 2001:11295288}" "" "" "In N-terminal mitochondrial targeting signal (Shinmura 2001)" "Unknown" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000418125" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Shinmura 2001:11295288}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418126" "0" "50" "1" "45800146" "45800146" "subst" "0.00103547" "00640" "MUTYH_000026" "g.45800146C>T" "" "{PMID:Shinmura 2001:11295288}" "" "" "In N-terminal mitochondrial targeting signal (Shinmura 2001)" "Unknown" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000418127" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Shinmura 2001:11295288}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418128" "0" "50" "1" "45799074" "45799074" "subst" "0.00166508" "00640" "MUTYH_000108" "g.45799074C>T" "" "{PMID:Shinmura 2001:11295288}" "" "306+11G>A" "" "Unknown" "" "" "0" "" "" "g.45333402C>T" "" "VUS" "" "0000418129" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "0.21" "{PMID:Halford 2003:12707038}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418130" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "00640" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Halford 2003:12707038}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418131" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "00640" "MUTYH_000019" "g.45797846G>A" "" "{PMID:Halford 2003:12707038}" "" "883C>T (Arg295Cys)" "" "Unknown" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000418132" "0" "50" "1" "45799209" "45799209" "subst" "0" "00640" "MUTYH_000028" "g.45799209A>T" "" "{PMID:Halford 2003:12707038}" "" "182T>A (Val61Glu)" "" "Unknown" "" "" "0" "" "" "g.45333537A>T" "" "VUS" "" "0000418133" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "00640" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Sampson 2003:12853198}" "" "270C>A (Tyr90X)" "" "Unknown" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418134" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00640" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Sampson 2003:12853198}" "" "891+3A>C" "" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000418135" "0" "50" "1" "45798840" "45798840" "subst" "4.06184E-6" "00640" "MUTYH_000034" "g.45798840A>T" "" "{PMID:Sampson 2003:12853198}" "" "349T>A (Trp117Arg)" "" "Unknown" "" "" "0" "" "" "g.45333168A>T" "" "VUS" "" "0000418136" "0" "50" "1" "45798843" "45798843" "subst" "0" "00640" "MUTYH_000110" "g.45798843C>T" "" "{PMID:Sampson 2003:12853198}" "" "347-1G>A (Val116GlufsX98)" "Alamut: acceptor splice site of intron 4 affected; skip of exon 5 very likely (or retaining of intron 4 also possible? r.([388_389ins388+1_389-1;389-1g>a]), p.(Val130GlyfsX6))" "Unknown" "" "" "0" "" "" "g.45333171C>T" "" "VUS" "" "0000418137" "0" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "00640" "MUTYH_000088" "g.45796892C>A" "" "{PMID:Sampson 2003:12853198}" "" "1396G>T (Glu466X)" "" "Unknown" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000418138" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cheadle and Sampson, 2003:12915454}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418141" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Knudsen 2003:14574166}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418143" "0" "70" "1" "45799141" "45799141" "del" "0" "00640" "MUTYH_000030" "g.45799141del" "" "{PMID:Lipton 2003:14633673}" "" "252del (Ser85AlafsX3)" "" "Unknown" "" "" "0" "" "" "g.45333469del" "" "likely pathogenic" "" "0000418144" "0" "70" "1" "45798773" "45798778" "dup" "0" "00640" "MUTYH_000037" "g.45798773_45798778dup" "" "{PMID:Lipton 2003:14633673}" "" "411_416dup; 411dupATGGAT (Trp138_Met139insIleTrp); 137insIleTrp" "" "Unknown" "" "" "0" "" "" "g.45333101_45333106dup" "" "likely pathogenic" "" "0000418145" "0" "90" "1" "45796895" "45796897" "del" "0" "00640" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Lipton 2003:14633673}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418146" "0" "50" "1" "45795027" "45795027" "subst" "0.00255411" "00640" "MUTYH_000096" "g.45795027C>T" "" "{PMID:Fleischmann 2004:14991577}" "" "1559G>A (Arg520Gln)" "" "Unknown" "" "rs3219497" "0" "" "" "g.45329355C>T" "" "VUS" "" "0000418147" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Fleischmann 2004:14991577}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418148" "0" "50" "1" "45795027" "45795027" "subst" "0.00255411" "00640" "MUTYH_000096" "g.45795027C>T" "" "{PMID:Fleischmann 2004:14991577}" "" "1559G>A (Arg520Gln)" "" "Unknown" "" "rs3219497" "0" "" "" "g.45329355C>T" "" "VUS" "" "0000418149" "0" "50" "1" "45795081" "45795081" "subst" "1.62455E-5" "00640" "MUTYH_000095" "g.45795081G>A" "" "{PMID:Fleischmann 2004:14991577}" "" "1505C>T (Pro502Leu)" "" "Unknown" "" "" "0" "" "" "g.45329409G>A" "" "VUS" "" "0000418150" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "00640" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Fleischmann 2004:14991577}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418151" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "00640" "MUTYH_000085" "g.45796899C>G" "0.05" "{PMID:Fleischmann 2004:14991577}" "" "1389G>C (Thr463Thr)" "" "Unknown" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418152" "0" "50" "1" "45796913" "45796913" "subst" "4.06058E-5" "00640" "MUTYH_000084" "g.45796913C>T" "" "{PMID:Fleischmann 2004:14991577}" "" "1375G>A (Ala459Thr)" "" "Unknown" "" "" "0" "" "" "g.45331241C>T" "" "VUS" "" "0000418153" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "0.29" "{PMID:Fleischmann 2004:14991577}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418154" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "00640" "MUTYH_000081" "g.45797139G>A" "" "{PMID:Fleischmann 2004:14991577}" "" "1234C>T (Arg412Cys)" "" "Unknown" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000418155" "0" "90" "1" "45796895" "45796897" "del" "0" "00640" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Gismondi 2004:14999774}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418156" "0" "70" "1" "45797760" "45797760" "subst" "0.00108835" "00640" "MUTYH_000098" "g.45797760T>C" "" "{PMID:Tao 2004:15180946}" "" "892-2A>G (Glu299SerfsX8)" "Retaining of intron 10" "Unknown" "" "" "0" "" "" "g.45332088T>C" "" "likely pathogenic" "" "0000418157" "0" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Venesio 2004:15188161}" "" "1185_1186dup (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418158" "0" "70" "1" "45799192" "45799193" "del" "0" "00640" "MUTYH_000027" "g.45799192_45799193del" "" "{PMID:Venesio 2004:15188161}" "" "199_200del (Val67LeufsX11)" "" "Unknown" "" "" "0" "" "" "g.45333520_45333521del" "" "likely pathogenic" "" "0000418159" "2" "90" "1" "45798467" "45798467" "subst" "4.06055E-6" "00640" "MUTYH_000040" "g.45798467G>A" "" "{PMID:Wang 2004:15236166}" "" "502C>T (Arg168Cys)" "evolutionary conserved (Chmiel 2003); pseudo hhh motifbelieved to be involved in substrate recognition; only variants close to Tyr179Cys and Gly382Asp detected" "Unknown" "" "" "0" "" "" "g.45332795G>A" "" "pathogenic" "" "0000418160" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418161" "2" "90" "1" "45797230" "45797230" "subst" "2.04017E-5" "00640" "MUTYH_000022" "g.45797230T>C" "" "{PMID:Wang 2004:15236166}" "" "1145-2A>G" "only variants close to Tyr179Cys and Gly382Asp detected" "Unknown" "" "" "0" "" "" "g.45331558T>C" "" "pathogenic" "" "0000418162" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418163" "0" "50" "1" "45798963" "45798963" "subst" "0" "00640" "MUTYH_000033" "g.45798963A>G" "" "{PMID:Isidro 2004:15366000}" "" "340T>C (Tyr114His)" "" "Unknown" "" "" "0" "" "" "g.45333291A>G" "" "VUS" "" "0000418164" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Isidro 2004:15366000}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418165" "0" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Isidro 2004:15366000}" "" "1185_1186dup; 1186_1187insGG (Glu396GlyfsX43); E396fsX437" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418166" "0" "50" "1" "45796269" "45796269" "subst" "0" "00640" "MUTYH_000106" "g.45796269C>G" "0.083" "{PMID:Isidro 2004:15366000}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418167" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "0.17" "{PMID:Isidro 2004:15366000}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418168" "0" "50" "1" "45797285" "45797285" "subst" "0" "00640" "MUTYH_000074" "g.45797285C>A" "0.015" "{PMID:Isidro 2004:15366000}" "" "1144+48G>A; 1145-57G>T" "" "Unknown" "" "" "0" "" "" "g.45331613C>A" "" "VUS" "" "0000418169" "0" "50" "1" "45798225" "45798225" "subst" "0.00721521" "00640" "MUTYH_000070" "g.45798225G>T" "0.015" "{PMID:Isidro 2004:15366000}" "" "648+21C>A" "" "Unknown" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000418170" "0" "50" "1" "45798466" "45798466" "subst" "8.12123E-6" "00640" "MUTYH_000041" "g.45798466C>T" "" "{PMID:Isidro 2004:15366000}" "" "503G>A (Arg168His)" "" "Unknown" "" "" "0" "" "" "g.45332794C>T" "" "VUS" "" "0000418171" "0" "50" "1" "45798188" "45798188" "subst" "4.06838E-6" "00640" "MUTYH_000114" "g.45798188C>T" "0.015" "{PMID:Isidro 2004:15366000}" "" "649-28G>A; 648+58G>A" "" "Unknown" "" "" "0" "" "" "g.45332516C>T" "" "VUS" "" "0000418172" "0" "50" "1" "45798185" "45798185" "subst" "0" "00640" "MUTYH_000112" "g.45798185A>T" "0.015" "{PMID:Isidro 2004:15366000}" "" "649-25T>A; 648+61T>A" "" "Unknown" "" "" "0" "" "" "g.45332513A>T" "" "VUS" "" "0000418173" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Isidro 2004:15366000}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418174" "1" "90" "1" "45797230" "45797230" "subst" "2.04017E-5" "00640" "MUTYH_000022" "g.45797230T>C" "1/4478 (0.02%)" "{PMID:Farrington 2005:15931596}" "" "1145-2A>G; nt 9639 a>g (AF527839)" "affects splicing, only transcript detected from other allele; Only c.1187G>A allele detectable; Compound heterozygous c.[1187-2A>G]+[1187G>A]" "Germline" "" "" "0" "" "" "g.45331558T>C" "" "pathogenic" "" "0000418175" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "51/4487 (1.1%)" "{PMID:Farrington 2005:15931596}" "" "1145G>A (Gly382Asp)" "transcript detected with RT-PCR; Only c.1187G>A allele detectable; Compound heterozygous c.[1187-2A>G]+[1187G>A]" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418176" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "00640" "MUTYH_000007" "g.45799120C>T" "" "{PMID:Niessen et al. 2006:16408224}" "" "271G>A (Asp91Asn)" "" "Germline" "" "" "0" "" "" "g.45333448C>T" "" "VUS" "" "0000418177" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "00640" "MUTYH_000019" "g.45797846G>A" "" "{PMID:Niessen et al. 2006:16408224}" "" "883C>T (Arg295Cys)" "MSH6: c.431G>T" "Germline" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000418178" "0" "90" "1" "45796895" "45796897" "del" "0" "00640" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Piccioli 2006:16455870}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418179" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "00640" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Piccioli 2006:16455870}" "" "270C>A (Tyr90X)" "" "Unknown" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418180" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00640" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Piccioli 2006:16455870}" "" "692G>A (Arg231His)" "" "Unknown" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000418181" "0" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "" "{PMID:Piccioli 2006:16455870}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418182" "1" "90" "1" "45798445" "45798445" "subst" "4.06055E-6" "00640" "MUTYH_000042" "g.45798445C>T" "2/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "524G>A (Gly175Glu); G175E" "APC variant: p.I2401L" "Germline" "" "" "0" "" "" "g.45332773C>T" "" "pathogenic" "" "0000418183" "2" "90" "1" "45798445" "45798445" "subst" "4.06055E-6" "02939" "MUTYH_000042" "g.45798445C>T" "2/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "524G>A (Gly175Glu); G175E" "APC variant: p.I2401L" "Germline" "" "" "0" "" "" "g.45332773C>T" "" "pathogenic" "" "0000418184" "0" "70" "1" "45798115" "45798115" "subst" "5.70395E-5" "00640" "MUTYH_000053" "g.45798115C>A" "" "{PMID:Bai 2007:17081686}" "" "694G>T (Val232Phe)" "" "Unknown" "" "" "0" "" "" "g.45332443C>A" "" "likely pathogenic" "" "0000418185" "1" "70" "1" "45798117" "45798117" "subst" "0" "00640" "MUTYH_000052" "g.45798117C>A" "" "{PMID:Bai 2007:17081686}" "" "692G>T (Arg231Leu)" "fails to complement mutY deficiency in E.coli" "Unknown" "" "" "0" "" "" "g.45332445C>A" "" "likely pathogenic" "" "0000418186" "2" "70" "1" "45798117" "45798117" "subst" "0" "02939" "MUTYH_000052" "g.45798117C>A" "" "{PMID:Bai 2007:17081686}" "" "692G>T (Arg231Leu)" "fails to complement mutY deficiency in E.coli" "Unknown" "" "" "0" "" "" "g.45332445C>A" "" "likely pathogenic" "" "0000418187" "0" "70" "1" "45798130" "45798130" "subst" "6.92447E-5" "00640" "MUTYH_000050" "g.45798130G>A" "" "{PMID:Bai 2007:17081686}" "" "679C>T (Arg227Trp)" "" "Unknown" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "likely pathogenic" "" "0000418189" "0" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "0.02" "http://egp.gs.washington.edu/data/mutyh/" "" "" "" "Unknown" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000418190" "1" "50" "1" "45797255" "45797255" "subst" "0.0036991" "00640" "MUTYH_000104" "g.45797255G>A" "0.01" "Clinical Genetics, LUMC, Leiden, NL" "" "1145-27C>T" "" "Germline" "" "rs3219490" "0" "" "" "g.45331583G>A" "" "VUS" "" "0000418191" "1" "50" "1" "45798225" "45798225" "subst" "8.12982E-6" "00640" "MUTYH_000015" "g.45798225G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "648+21C>T" "" "Germline" "" "" "0" "" "" "g.45332553G>A" "" "VUS" "" "0000418192" "1" "50" "1" "45796115" "45796115" "subst" "0" "00640" "MUTYH_000107" "g.45796115G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1476+73C>T" "" "Germline" "" "rs3219495" "0" "" "" "g.45330443G>A" "" "VUS" "" "0000418193" "2" "50" "1" "45796115" "45796115" "subst" "0" "00640" "MUTYH_000107" "g.45796115G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1476+73C>T" "" "Germline" "" "rs3219495" "0" "" "" "g.45330443G>A" "" "VUS" "" "0000418194" "1" "50" "1" "45796899" "45796899" "subst" "0.00454804" "00640" "MUTYH_000085" "g.45796899C>G" "" "{PMID:Nielsen et al. 2007b:17568392}; Clinical Genetics, LUMC, Leiden, NL" "" "1389G>C (Thr463Thr)" "Also germline whole gene deletion APC gene; Alamut: no major effect on splice sites predicted; ESE change" "Germline" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418195" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, LUMC, Leiden, NL" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418196" "1" "50" "1" "45805816" "45805816" "subst" "0" "00640" "MUTYH_000020" "g.45805816G>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "" "" "Unknown" "" "rs3219467" "0" "" "" "g.45340144G>C" "" "VUS" "" "0000418198" "1" "50" "1" "45798232" "45798232" "subst" "6.5019E-5" "00640" "MUTYH_000013" "g.45798232G>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "648+14C>G" "" "Germline" "" "" "0" "" "" "g.45332560G>C" "" "VUS" "" "0000418199" "1" "50" "1" "45798232" "45798232" "subst" "6.5019E-5" "00640" "MUTYH_000013" "g.45798232G>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "648+14C>G" "" "Germline" "" "" "0" "" "" "g.45332560G>C" "" "VUS" "" "0000418200" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009b:19527492}, {PMID:Nielsen 2009b:19527492}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418201" "1" "70" "1" "45799108" "45799108" "subst" "3.65473E-5" "00640" "MUTYH_000008" "g.45799108G>A" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009b:19527492}, {PMID:Nielsen 2009b:19527492}" "" "283C>T (Arg95Trp)" "" "Germline" "" "" "0" "" "" "g.45333436G>A" "" "likely pathogenic" "" "0000418202" "1" "50" "1" "45806103" "45806103" "subst" "0" "00640" "MUTYH_000001" "g.45806103G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219466" "0" "" "" "" "" "VUS" "" "0000418203" "1" "50" "1" "45798901" "45798901" "subst" "0" "00640" "MUTYH_000009" "g.45798901C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "346+56G>A" "" "Germline" "" "" "0" "" "" "g.45333229C>T" "" "VUS" "" "0000418204" "1" "50" "1" "45800033" "45800033" "subst" "0.0238208" "00640" "MUTYH_000006" "g.45800033T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "" "" "Germline" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000418205" "1" "50" "1" "45796069" "45796069" "subst" "0" "00640" "MUTYH_000105" "g.45796069C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1476+119G>A" "" "Germline" "" "" "0" "" "" "g.45330397C>T" "" "VUS" "" "0000418206" "1" "50" "1" "45797530" "45797530" "subst" "0.000399669" "00640" "MUTYH_000100" "g.45797530G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "956-9C>T" "Alamut: no major effect predicted on acceptor splice site of intron 11" "Germline" "" "rs3219488" "0" "" "" "g.45331858G>A" "" "VUS" "" "0000418207" "3" "90" "1" "45796895" "45796897" "del" "0" "00640" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Vogt 2009:19732775}; Clinical Genetics, LUMC, Leiden, NL" "" "1395_1397del (Glu466del)" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418209" "1" "50" "1" "45805880" "45805880" "subst" "0.00332968" "00640" "MUTYH_000003" "g.45805880G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "" "" "Germline" "" "rs2275602" "0" "" "" "g.45340208G>A" "" "VUS" "" "0000418210" "1" "50" "1" "45796913" "45796913" "subst" "4.06058E-5" "00640" "MUTYH_000084" "g.45796913C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1375G>A (Ala459Thr)" "" "Germline" "" "" "0" "" "" "g.45331241C>T" "" "VUS" "" "0000418211" "1" "50" "1" "45798260" "45798260" "subst" "4.062E-6" "00640" "MUTYH_000046" "g.45798260T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "634A>G (Ile212Val)" "" "Germline" "" "" "0" "" "" "g.45332588T>C" "" "VUS" "" "0000418212" "1" "90" "1" "45799121" "45799121" "subst" "0.000121822" "00640" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Jones 2002:12393807}; {OMIM604933:0004}" "" "270C>A (Tyr90X)" "" "Unknown" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418213" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "no aberrant splicing could be detected" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418214" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418215" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418216" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418217" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418218" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418219" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418220" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418221" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418222" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418223" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418224" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418225" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418226" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0002}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418227" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Al-Tassan 2002:11818965}; {OMIM604933:0001}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418228" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Al-Tassan 2002:11818965}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418229" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Al-Tassan 2002:11818965}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418230" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Al-Tassan 2002:11818965}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418231" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Al-Tassan 2002:11818965}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418232" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Al-Tassan 2002:11818965}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418233" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Al-Tassan 2002:11818965}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418234" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Al-Tassan 2002:11818965}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418235" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Al-Tassan 2002:11818965}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418236" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Al-Tassan 2002:11818965}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418237" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Al-Tassan 2002:11818965}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418238" "0" "50" "1" "45797950" "45797950" "subst" "0.000171457" "02939" "MUTYH_000055" "g.45797950C>T" "" "{PMID:Al-Tassan 2002:11818965}" "" "779G>A (Arg260Gln)" "" "Unknown" "" "" "0" "" "" "g.45332278C>T" "" "VUS" "" "0000418239" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "0/124 controls without malignancy, 1/185 patients with childhood leukemia (AML n=45) (ALL n=140)" "{PMID:Akyerli 2003:12920580}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418240" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "0/185 patients with childhood leukemia (AML n=45) (ALL n=140); 0/124 controls without malignancy" "{PMID:Akyerli 2003:12920580}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418241" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "0/124 controls without malignancy, 0/185 patients with childhood leukemia (AML n=45) (ALL n=140)" "{PMID:Akyerli 2003:12920580}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418242" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Akyerli 2003:12920580}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418243" "0" "50" "1" "45800202" "45800202" "subst" "0" "02939" "MUTYH_000087" "g.45800202G>C" "" "{PMID:Olschwang 2007:17949294}" "" "" "" "Unknown" "" "" "0" "" "" "g.45334530G>C" "" "VUS" "" "0000418244" "0" "50" "1" "45800158" "45800158" "subst" "0" "02939" "MUTYH_000146" "g.45800158G>A" "" "{PMID:Olschwang 2007:17949294}" "" "" "" "Unknown" "" "" "0" "" "" "g.45334486G>A" "" "VUS" "" "0000418245" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Olschwang 2007:17949294}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418246" "0" "90" "1" "45799144" "45799144" "subst" "1.21819E-5" "02939" "MUTYH_000029" "g.45799144G>A" "" "{PMID:Olschwang 2007:17949294}" "" "247C>T (Arg83X)" "" "Unknown" "" "" "0" "" "" "g.45333472G>A" "" "pathogenic" "" "0000418247" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Olschwang 2007:17949294}" "" "270C>A (Tyr90X)" "" "Unknown" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418248" "0" "50" "1" "45799121" "45799121" "subst" "0.00142938" "02939" "MUTYH_000031" "g.45799121G>A" "" "{PMID:Olschwang 2007:17949294}" "" "270C>T" "" "Unknown" "" "" "0" "" "" "g.45333449G>A" "" "VUS" "" "0000418249" "0" "50" "1" "45799108" "45799108" "subst" "3.65473E-5" "02939" "MUTYH_000008" "g.45799108G>A" "" "{PMID:Olschwang 2007:17949294}" "" "283C>T (Arg95Trp)" "" "Unknown" "" "" "0" "" "" "g.45333436G>A" "" "VUS" "" "0000418250" "0" "50" "1" "45798979" "45798979" "subst" "0" "02939" "MUTYH_000124" "g.45798979G>A" "" "{PMID:Olschwang 2007:17949294}" "" "324C>T" "" "Unknown" "" "" "0" "" "" "g.45333307G>A" "" "VUS" "" "0000418251" "0" "50" "1" "45798969" "45798969" "subst" "6.09389E-5" "02939" "MUTYH_000125" "g.45798969G>A" "" "{PMID:Olschwang 2007:17949294}" "" "334C>T (Arg112Trp)" "" "Unknown" "" "" "0" "" "" "g.45333297G>A" "" "VUS" "" "0000418252" "0" "50" "1" "45798902" "45798902" "subst" "0" "02939" "MUTYH_000126" "g.45798902C>T" "" "{PMID:Olschwang 2007:17949294}" "" "346+55G>A" "" "Unknown" "" "" "0" "" "" "g.45333230C>T" "" "VUS" "" "0000418253" "0" "90" "1" "45798843" "45798843" "subst" "0" "02939" "MUTYH_000127" "g.45798843C>G" "" "{PMID:Olschwang 2007:17949294}" "" "347-1G>C" "Alamut: acceptor splice site of intron 4 affected; skip of exon 5 very likely (or retaining of intron 4 also possible? r.([388_389ins388+1_389-1;389-1g>a]), p.(Val130GlyfsX6))" "Unknown" "" "" "0" "" "" "g.45333171C>G" "" "pathogenic" "" "0000418254" "0" "50" "1" "45798670" "45798670" "subst" "6.52401E-5" "02939" "MUTYH_000128" "g.45798670G>A" "" "{PMID:Olschwang 2007:17949294}" "" "421-39C>T" "" "Unknown" "" "" "0" "" "" "g.45332998G>A" "" "VUS" "" "0000418255" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Olschwang 2007:17949294}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418256" "0" "50" "1" "45798467" "45798467" "subst" "4.06055E-6" "02939" "MUTYH_000040" "g.45798467G>A" "" "{PMID:Olschwang 2007:17949294}" "" "502C>T (Arg168Cys)" "" "Unknown" "" "" "0" "" "" "g.45332795G>A" "" "VUS" "" "0000418257" "0" "50" "1" "45798329" "45798329" "subst" "3.65476E-5" "02939" "MUTYH_000129" "g.45798329G>A" "" "{PMID:Olschwang 2007:17949294}" "" "565C>T (Arg189Cys)" "" "Unknown" "" "" "0" "" "" "g.45332657G>A" "" "VUS" "" "0000418258" "0" "50" "1" "45798286" "45798286" "subst" "2.84294E-5" "02939" "MUTYH_000130" "g.45798286C>T" "" "{PMID:Olschwang 2007:17949294}" "" "608G>A (Arg203His)" "" "Unknown" "" "" "0" "" "" "g.45332614C>T" "" "VUS" "" "0000418259" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "02939" "MUTYH_000045" "g.45798269T>C" "" "{PMID:Olschwang 2007:17949294}" "" "625A>G (Ile209Val)" "" "Unknown" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000418260" "0" "50" "1" "45798225" "45798225" "subst" "0.00721521" "02939" "MUTYH_000070" "g.45798225G>T" "" "{PMID:Olschwang 2007:17949294}" "" "648+21C>A" "" "Unknown" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000418261" "0" "50" "1" "45798165" "45798165" "subst" "4.06967E-6" "02939" "MUTYH_000131" "g.45798165C>A" "" "{PMID:Olschwang 2007:17949294}" "" "649-5G>T" "" "Unknown" "" "" "0" "" "" "g.45332493C>A" "" "VUS" "" "0000418262" "1" "90" "1" "45798118" "45798118" "subst" "5.29614E-5" "02939" "MUTYH_000132" "g.45798118G>A" "" "{PMID:Olschwang 2007:17949294}" "" "691C>T (Arg231Cys)" "" "Unknown" "" "" "0" "" "" "g.45332446G>A" "" "pathogenic" "" "0000418263" "2" "90" "1" "45798118" "45798118" "subst" "5.29614E-5" "02939" "MUTYH_000132" "g.45798118G>A" "" "{PMID:Olschwang 2007:17949294}" "" "691C>T (Arg231Cys)" "" "Unknown" "" "" "0" "" "" "g.45332446G>A" "" "pathogenic" "" "0000418264" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "02939" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Olschwang 2007:17949294}" "" "692G>A (Arg231His)" "" "Unknown" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000418265" "0" "50" "1" "45797935" "45797935" "subst" "0" "02939" "MUTYH_000133" "g.45797935T>C" "" "{PMID:Olschwang 2007:17949294}" "" "794A>G (Asn265Ser)" "" "Unknown" "" "" "0" "" "" "g.45332263T>C" "" "VUS" "" "0000418266" "0" "90" "1" "45797906" "45797907" "del" "0" "02939" "MUTYH_000134" "g.45797906_45797907del" "" "{PMID:Olschwang 2007:17949294}" "" "822_823del (Cys276TyrfsX38); Val275CysfsX29" "" "Unknown" "" "" "0" "" "" "g.45332234_45332235del" "" "pathogenic" "" "0000418267" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "02939" "MUTYH_000019" "g.45797846G>A" "" "{PMID:Olschwang 2007:17949294}" "" "883C>T (Arg295Cys)" "" "Unknown" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000418268" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Olschwang 2007:17949294}" "" "891+3A>C" "" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000418269" "0" "90" "1" "45797752" "45797752" "subst" "1.21828E-5" "02939" "MUTYH_000119" "g.45797752G>A" "" "{PMID:Olschwang 2007:17949294}" "" "898C>T (Gln300X)" "" "Unknown" "" "" "0" "" "" "g.45332080G>A" "" "pathogenic" "" "0000418270" "0" "50" "1" "45797698" "45797698" "subst" "0" "02939" "MUTYH_000135" "g.45797698A>G" "" "{PMID:Olschwang 2007:17949294}" "" "952T>C (Cys318Arg)" "" "Unknown" "" "" "0" "" "" "g.45332026A>G" "" "VUS" "" "0000418271" "0" "50" "1" "45797688" "45797688" "subst" "0" "02939" "MUTYH_000136" "g.45797688T>C" "" "{PMID:Olschwang 2007:17949294}" "" "955+7A>G" "" "Unknown" "" "" "0" "" "" "g.45332016T>C" "" "VUS" "" "0000418272" "0" "50" "1" "45797548" "45797548" "subst" "0.00119508" "02939" "MUTYH_000137" "g.45797548C>T" "" "{PMID:Olschwang 2007:17949294}" "" "956-27G>A" "" "Unknown" "" "" "0" "" "" "g.45331876C>T" "" "VUS" "" "0000418273" "0" "90" "1" "45797522" "45797522" "subst" "0" "02939" "MUTYH_000138" "g.45797522C>A" "" "{PMID:Olschwang 2007:17949294}" "" "956-1G>T (Ala319_Ser381del)" "Alamut: splice acceptor site of intron 11 affected, probably leading to skipping of exon 12" "Unknown" "" "" "0" "" "" "g.45331850C>A" "" "pathogenic" "" "0000418274" "0" "90" "1" "45797507" "45797507" "subst" "6.56846E-5" "02939" "MUTYH_000062" "g.45797507G>A" "" "{PMID:Olschwang 2007:17949294}" "" "970C>T (Gln324X)" "" "Unknown" "" "" "0" "" "" "g.45331835G>A" "" "pathogenic" "" "0000418275" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Olschwang 2007:17949294}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418276" "0" "70" "1" "45797481" "45797481" "subst" "4.62033E-5" "02939" "MUTYH_000064" "g.45797481C>T" "" "{PMID:Olschwang 2007:17949294}" "" "996G>A" "Predicted to generate strong acceptor splice site (Olschwang 2007)." "Unknown" "" "" "0" "" "" "g.45331809C>T" "" "likely pathogenic" "" "0000418277" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Olschwang 2007:17949294}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418278" "0" "70" "1" "45797481" "45797481" "subst" "4.62033E-5" "02939" "MUTYH_000064" "g.45797481C>T" "" "{PMID:Olschwang 2007:17949294}" "" "996G>A" "Predicted to generate strong acceptor splice site (Olschwang 2007)." "Unknown" "" "" "0" "" "" "g.45331809C>T" "" "likely pathogenic" "" "0000418279" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Olschwang 2007:17949294}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418280" "0" "50" "1" "45797443" "45797443" "subst" "4.08934E-6" "02939" "MUTYH_000139" "g.45797443G>A" "" "{PMID:Olschwang 2007:17949294}" "" "1034C>T (Pro345Leu)" "" "Unknown" "" "" "0" "" "" "g.45331771G>A" "" "VUS" "" "0000418281" "0" "50" "1" "45797442" "45797442" "subst" "0" "02939" "MUTYH_000140" "g.45797442G>A" "" "{PMID:Olschwang 2007:17949294}" "" "1035C>T (Pro345Pro)" "" "Unknown" "" "" "0" "" "" "g.45331770G>A" "" "VUS" "" "0000418282" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Olschwang 2007:17949294}" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418283" "0" "50" "1" "45797356" "45797356" "subst" "0" "02939" "MUTYH_000071" "g.45797356A>G" "" "{PMID:Olschwang 2007:17949294}" "" "1121T>C (Leu374Pro)" "" "Unknown" "" "" "0" "" "" "g.45331684A>G" "" "VUS" "" "0000418284" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02939" "MUTYH_000072" "g.45797348G>A" "" "{PMID:Olschwang 2007:17949294}" "" "1129C>T (Gln377X)" "" "Unknown" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000418285" "0" "50" "1" "45797255" "45797255" "subst" "0.0036991" "02939" "MUTYH_000104" "g.45797255G>A" "" "{PMID:Olschwang 2007:17949294}" "" "1145-27C>T" "" "Unknown" "" "rs3219490" "0" "" "" "g.45331583G>A" "" "VUS" "" "0000418286" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Olschwang 2007:17949294}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418287" "0" "90" "1" "45797188" "45797189" "dup" "0" "02939" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Olschwang 2007:17949294}" "" "1185_1186dup (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418288" "0" "50" "1" "45797157" "45797157" "subst" "0.000573124" "02939" "MUTYH_000141" "g.45797157G>T" "" "{PMID:Olschwang 2007:17949294}" "" "1216C>A (Leu406Met)" "" "Unknown" "" "" "0" "" "" "g.45331485G>T" "" "VUS" "" "0000418289" "0" "50" "1" "45796913" "45796913" "subst" "4.06058E-5" "02939" "MUTYH_000084" "g.45796913C>T" "" "{PMID:Olschwang 2007:17949294}" "" "1375G>A (Ala459Thr)" "" "Unknown" "" "" "0" "" "" "g.45331241C>T" "" "VUS" "" "0000418290" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "02939" "MUTYH_000085" "g.45796899C>G" "" "{PMID:Olschwang 2007:17949294}" "" "1389G>C (Thr463Thr)" "" "Unknown" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418291" "0" "90" "1" "45796895" "45796895" "subst" "4.06062E-6" "02939" "MUTYH_000142" "g.45796895C>A" "" "{PMID:Olschwang 2007:17949294}" "" "1393G>T (Glu465X)" "" "Unknown" "" "" "0" "" "" "g.45331223C>A" "" "pathogenic" "" "0000418292" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Olschwang 2007:17949294}" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418293" "1" "90" "1" "45796229" "45796229" "subst" "0" "02939" "MUTYH_000143" "g.45796229C>A" "" "{PMID:Olschwang 2007:17949294}" "" "1435G>T (Val479Phe)" "Not found in 1022 sporadic CRC patients from the same region." "Unknown" "" "" "0" "" "" "g.45330557C>A" "" "pathogenic" "" "0000418294" "2" "90" "1" "45796229" "45796229" "subst" "0" "02939" "MUTYH_000143" "g.45796229C>A" "" "{PMID:Olschwang 2007:17949294}" "" "1435G>T (Val479Phe)" "Not found in 1022 sporadic CRC patients from the same region." "Unknown" "" "" "0" "" "" "g.45330557C>A" "" "pathogenic" "" "0000418295" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Olschwang 2007:17949294}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418296" "0" "50" "1" "45795080" "45795080" "subst" "0.000138081" "02939" "MUTYH_000144" "g.45795080C>T" "" "{PMID:Olschwang 2007:17949294}" "" "1506G>A" "" "Unknown" "" "" "0" "" "" "g.45329408C>T" "" "VUS" "" "0000418297" "0" "50" "1" "45795027" "45795027" "subst" "0.00255411" "02939" "MUTYH_000096" "g.45795027C>T" "" "{PMID:Olschwang 2007:17949294}" "" "1559G>A (Arg520Gln)" "" "Unknown" "" "rs3219497" "0" "" "" "g.45329355C>T" "" "VUS" "" "0000418298" "0" "50" "1" "45795019" "45795019" "subst" "4.06058E-6" "02939" "MUTYH_000145" "g.45795019T>C" "" "{PMID:Olschwang 2007:17949294}" "" "1567A>G (Ile523Val)" "" "Unknown" "" "" "0" "" "" "g.45329347T>C" "" "VUS" "" "0000418299" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "0,3% (3/1023) sporadic CRC patients" "{PMID:Küry 2007:17931073}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418300" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Küry 2007:17931073}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418301" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Küry 2007:17931073}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418302" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Küry 2007:17931073}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418303" "0" "70" "1" "45796229" "45796229" "subst" "0" "02939" "MUTYH_000143" "g.45796229C>A" "0,1% (1/1023) sporadic CRC patients" "{PMID:Küry 2007:17931073}" "" "1435G>T (Val479Phe)" "Not found in 1022 sporadic CRC patients from the same region." "Unknown" "" "" "0" "" "" "g.45330557C>A" "" "likely pathogenic" "" "0000418304" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Küry 2007:17931073}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418305" "2" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Küry 2007:17931073}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418306" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Küry 2007:17931073}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418307" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "16/1121" "{PMID:Küry 2007:17931073}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418308" "0" "70" "1" "45796229" "45796229" "subst" "0" "02939" "MUTYH_000143" "g.45796229C>A" "" "{PMID:Küry 2007:17931073}" "" "1435G>T (Val479Phe)" "Not found in 1022 sporadic CRC patients from the same region." "Unknown" "" "" "0" "" "" "g.45330557C>A" "" "likely pathogenic" "" "0000418309" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "6/200" "{PMID:Küry 2007:17931073}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418310" "0" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "" "{PMID:Küry 2007:17931073}" "" "" "" "Unknown" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000418311" "0" "50" "1" "45798901" "45798901" "subst" "0" "02939" "MUTYH_000009" "g.45798901C>T" "" "{PMID:Küry 2007:17931073}" "" "346+56G>A" "" "Unknown" "" "" "0" "" "" "g.45333229C>T" "" "VUS" "" "0000418312" "0" "50" "1" "45798678" "45798678" "subst" "0" "02939" "MUTYH_000147" "g.45798678G>A" "" "{PMID:Küry 2007:17931073}" "" "421-47C>T" "" "Unknown" "" "" "0" "" "" "g.45333006G>A" "" "VUS" "" "0000418313" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Küry 2007:17931073}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418314" "1" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "3/200" "{PMID:Küry 2007:17931073}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418315" "2" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "3/200" "{PMID:Küry 2007:17931073}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418316" "0" "50" "1" "45798225" "45798225" "subst" "0.00721521" "02939" "MUTYH_000070" "g.45798225G>T" "" "{PMID:Küry 2007:17931073}" "" "648+21C>A" "" "Unknown" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000418317" "0" "50" "1" "45797530" "45797530" "subst" "0.000399669" "02939" "MUTYH_000100" "g.45797530G>A" "" "{PMID:Küry 2007:17931073}" "" "956-9C>T" "Alamut: no major effect predicted on acceptor splice site of intron 11" "Unknown" "" "rs3219488" "0" "" "" "g.45331858G>A" "" "VUS" "" "0000418318" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Küry 2007:17931073}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418319" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Küry 2007:17931073}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418320" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Küry 2007:17931073}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418321" "0" "50" "1" "45796246" "45796246" "subst" "0" "02939" "MUTYH_000148" "g.45796246C>A" "" "{PMID:Küry 2007:17931073}" "" "1435-17C>T" "Alamut: no major splice site change predicted\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." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000418322" "0" "50" "1" "45795192" "45795192" "subst" "0" "02939" "MUTYH_000149" "g.45795192C>G" "" "{PMID:Küry 2007:17931073}" "" "1477-83G>C; 1481-83G>C (intron 15)" "" "Unknown" "" "" "0" "" "" "g.45329520C>G" "" "VUS" "" "0000418323" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "02939" "MUTYH_000050" "g.45798130G>A" "0/1023 sporadic CRC patients; 0/1121 healthy controls" "{PMID:Küry 2007:17931073}" "" "679C>T (Arg227Trp)" "" "Unknown" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "pathogenic" "" "0000418324" "0" "90" "1" "45798115" "45798115" "subst" "5.70395E-5" "02939" "MUTYH_000053" "g.45798115C>A" "0/1023 sporadic CRC patients; 0/1121 healthy controls" "{PMID:Küry 2007:17931073}" "" "694G>T (Val232Phe)" "" "Unknown" "" "" "0" "" "" "g.45332443C>A" "" "pathogenic" "" "0000418325" "0" "50" "1" "45797105" "45797105" "subst" "4.062E-6" "02939" "MUTYH_000150" "g.45797105C>T" "0/1023 sporadic CRC patients; 0/1121 healthy controls" "{PMID:Küry 2007:17931073}" "" "1268G>A (Arg423Gln)" "" "Unknown" "" "" "0" "" "" "g.45331433C>T" "" "VUS" "" "0000418326" "0" "50" "1" "45797105" "45797105" "subst" "0" "02939" "MUTYH_000151" "g.45797105C>G" "0/1023 sporadic CRC patients; 0/1121 healthy controls" "{PMID:Küry 2007:17931073}" "" "1268G>C (Arg423Pro)" "" "Unknown" "" "" "0" "" "" "g.45331433C>G" "" "VUS" "" "0000418327" "0" "50" "1" "45797104" "45797104" "subst" "1.21857E-5" "02939" "MUTYH_000152" "g.45797104C>T" "0/1023 sporadic CRC patients; 0/1121 healthy controls" "{PMID:Küry 2007:17931073}" "" "1269G>A (Arg423Arg)" "" "Unknown" "" "" "0" "" "" "g.45331432C>T" "" "VUS" "" "0000418328" "0" "50" "1" "0" "0" "ins" "0" "00640" "MUTYH_000159" "g.?" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1476+479_1476+480ins327" "" "Germline" "" "rs10527342" "0" "" "" "" "" "VUS" "" "0000418329" "1" "50" "1" "45800164" "45800164" "subst" "2.84245E-5" "00640" "MUTYH_000153" "g.45800164C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "" "" "Germline" "" "" "0" "" "" "g.45334492C>T" "" "VUS" "" "0000418330" "2" "50" "1" "45800156" "45800156" "subst" "0.0487424" "00640" "MUTYH_000005" "g.45800156C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418331" "0" "50" "1" "45796269" "45796269" "subst" "0" "00640" "MUTYH_000106" "g.45796269C>G" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1435-40G>C" "Alamut: no major splice site change predicted\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" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418332" "0" "50" "1" "45799988" "45799988" "subst" "0" "00640" "MUTYH_000154" "g.45799988C>T" "" "{PMID:Out 2009:19842214}" "" "" "" "Germline" "" "" "0" "" "" "g.45334316C>T" "" "VUS" "" "0000418333" "0" "50" "1" "45798555" "45798555" "subst" "0" "00640" "MUTYH_000010" "g.45798555C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418334" "0" "50" "1" "45797548" "45797548" "subst" "0.00119508" "00640" "MUTYH_000137" "g.45797548C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "956-27G>A" "" "Germline" "" "" "0" "" "" "g.45331876C>T" "" "VUS" "" "0000418335" "0" "50" "1" "45799912" "45799912" "subst" "0" "00640" "MUTYH_000155" "g.45799912C>T" "" "{PMID:Out 2009:19842214}" "" "" "" "Germline" "" "rs3219486" "0" "" "" "g.45334240C>T" "" "VUS" "" "0000418336" "0" "50" "1" "45799988" "45799988" "subst" "0" "00640" "MUTYH_000154" "g.45799988C>T" "" "{PMID:Out 2009:19842214}" "" "" "" "Germline" "" "" "0" "" "" "g.45334316C>T" "" "VUS" "" "0000418337" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, LUMC, Leiden, NL" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418338" "0" "50" "1" "45796354" "45796354" "subst" "0" "00640" "MUTYH_000157" "g.45796354G>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1435-125C>A" "" "Germline" "" "rs3219492" "0" "" "" "g.45330682G>T" "" "VUS" "" "0000418339" "0" "50" "1" "45796269" "45796269" "subst" "0" "00640" "MUTYH_000106" "g.45796269C>G" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1435-40G>C" "Alamut: no major splice site change predicted\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" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418340" "0" "50" "1" "45799927" "45799927" "subst" "0" "00640" "MUTYH_000156" "g.45799927C>T" "" "{PMID:Out 2009:19842214}" "" "" "" "Germline" "" "" "0" "" "" "g.45334255C>T" "" "VUS" "" "0000418341" "0" "50" "1" "45798555" "45798555" "subst" "0" "00640" "MUTYH_000010" "g.45798555C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418342" "0" "50" "1" "45796626" "45796626" "subst" "0" "00640" "MUTYH_000158" "g.45796626G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1434+228C>T" "" "Germline" "" "rs3219491" "0" "" "" "g.45330954G>A" "" "VUS" "" "0000418343" "0" "50" "1" "45799912" "45799912" "subst" "0" "00640" "MUTYH_000155" "g.45799912C>T" "" "{PMID:Out 2009:19842214}" "" "" "" "Germline" "" "rs3219486" "0" "" "" "g.45334240C>T" "" "VUS" "" "0000418344" "0" "50" "1" "45797366" "45797366" "subst" "0" "00640" "MUTYH_000160" "g.45797366C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1111G>A (Ala371Thr)" "" "Germline" "" "" "0" "" "" "g.45331694C>T" "" "VUS" "" "0000418345" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, LUMC, Leiden, NL" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418346" "0" "50" "1" "0" "0" "ins" "0" "00640" "MUTYH_000159" "g.?" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1476+479_1476+480ins327" "" "Germline" "" "rs10527342" "0" "" "" "" "" "VUS" "" "0000418347" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, LUMC, Leiden, NL" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418348" "0" "50" "1" "45806053" "45806053" "subst" "0" "00640" "MUTYH_000002" "g.45806053G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000418349" "0" "50" "1" "45797287" "45797287" "subst" "0" "00640" "MUTYH_000161" "g.45797287C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1144+46G>A" "" "Germline" "" "" "0" "" "" "g.45331615C>T" "" "VUS" "" "0000418350" "2" "50" "1" "45796115" "45796115" "subst" "0" "00640" "MUTYH_000107" "g.45796115G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1476+73C>T" "" "Germline" "" "rs3219495" "0" "" "" "g.45330443G>A" "" "VUS" "" "0000418351" "1" "50" "1" "45796115" "45796115" "subst" "0" "00640" "MUTYH_000107" "g.45796115G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1476+73C>T" "" "Germline" "" "rs3219495" "0" "" "" "g.45330443G>A" "" "VUS" "" "0000418352" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:van Puijenbroek 2007:17039270}" "" "494A>G (Tyr165Cys)" "MSH6: c.1787delT" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418353" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:van Puijenbroek 2007:17039270}" "" "1145G>A Gly382Asp" "MSH6: c.1784delT" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418354" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:van Puijenbroek 2007:17039270}" "" "494A>G (Tyr165Cys)" "MSH6: c.1784delT" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418355" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Shinmura 2001:11295288}" "" "" "In N-terminal mitochondrial targeting signal (Shinmura 2001)" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418356" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Shinmura 2001:11295288}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418357" "0" "50" "1" "45798460" "45798460" "subst" "0" "02939" "MUTYH_000162" "g.45798460C>G" "" "{PMID:Shinmura 2001:11295288}" "" "509G>C (Arg170Pro)" "Conserved in E.coli" "Unknown" "" "" "0" "" "" "g.45332788C>G" "" "VUS" "" "0000418358" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Sliwinski 2009:19300419}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418359" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "02939" "MUTYH_000085" "g.45796899C>G" "" "{PMID:Tao 2008:18271935}" "" "1389G>C (Thr463Thr)" "Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T." "Unknown" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418360" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Tao 2008:18271935}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418361" "0" "50" "1" "45806206" "45806206" "subst" "0" "02939" "MUTYH_000163" "g.45806206C>T" "" "{PMID:Tao 2008:18271935}" "" "-280G>A" "Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T." "Unknown" "" "rs3219465" "0" "" "" "g.45340534C>T" "" "VUS" "" "0000418362" "0" "50" "1" "45805880" "45805880" "subst" "0.00332968" "02939" "MUTYH_000003" "g.45805880G>A" "" "{PMID:Tao 2008:18271935}" "" "" "" "Unknown" "" "rs2275602" "0" "" "" "g.45340208G>A" "" "VUS" "" "0000418363" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "02939" "MUTYH_000085" "g.45796899C>G" "" "{PMID:Tao 2008:18271935}" "" "1389G>C (Thr463Thr)" "Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T." "Unknown" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418364" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Tao 2008:18271935}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418365" "0" "50" "1" "45806206" "45806206" "subst" "0" "02939" "MUTYH_000163" "g.45806206C>T" "" "{PMID:Tao 2008:18271935}" "" "-280G>A" "Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T." "Unknown" "" "rs3219465" "0" "" "" "g.45340534C>T" "" "VUS" "" "0000418366" "0" "50" "1" "45805880" "45805880" "subst" "0.00332968" "02939" "MUTYH_000003" "g.45805880G>A" "" "{PMID:Tao 2008:18271935}" "" "" "" "Unknown" "" "rs2275602" "0" "" "" "g.45340208G>A" "" "VUS" "" "0000418367" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Tao 2008:18271935}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418368" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Tao 2008:18271935}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418369" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "" "{PMID:Tao 2008:18271935}" "" "1435-40G>C" "Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A.\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." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418370" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Tao 2008:18271935}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418371" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "" "{PMID:Tao 2008:18271935}" "" "1435-40G>C" "Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A.\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." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418372" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Tao 2008:18271935}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418373" "3" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "" "{PMID:Tao 2008:18271935}" "" "1435-40G>C" "Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A.\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." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418374" "3" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Tao 2008:18271935}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418375" "3" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "" "{PMID:Tao 2008:18271935}" "" "1435-40G>C" "Not tested on entire cohort. Expected to be in 100% LD with c.504+35G>A.\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." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418376" "3" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "" "{PMID:Tao 2008:18271935}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418377" "0" "70" "1" "45797760" "45797760" "subst" "0.00108835" "02939" "MUTYH_000098" "g.45797760T>C" "" "{PMID:Tao 2008:18271935}" "" "892-2A>G" "" "Unknown" "" "" "0" "" "" "g.45332088T>C" "" "likely pathogenic" "" "0000418378" "0" "70" "1" "45797760" "45797760" "subst" "0.00108835" "02939" "MUTYH_000098" "g.45797760T>C" "" "{PMID:Tao 2008:18271935}" "" "892-2A>G" "" "Unknown" "" "" "0" "" "" "g.45332088T>C" "" "likely pathogenic" "" "0000418379" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "" "{PMID:Yamaguchi 2002:12056405}" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002).\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." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000418380" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "" "{PMID:Yamaguchi 2002:12056405}" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002).\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." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000418381" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "" "{PMID:Yamaguchi 2002:12056405}" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002).\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." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000418382" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "" "{PMID:Yamaguchi 2002:12056405}" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002).\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." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000418383" "0" "50" "1" "45804050" "45804050" "subst" "0" "02939" "MUTYH_000164" "g.45804050C>T" "" "{PMID:Yamaguchi 2002:12056405}" "" "IVS1+1520 A/G (beta transcript); NM_001048174.1: -7+1521G>A (beta transcript)" "" "Unknown" "" "rs3219472" "0" "" "" "g.45338378C>T" "" "VUS" "" "0000418384" "0" "50" "1" "45802143" "45802143" "subst" "0" "02939" "MUTYH_000165" "g.45802143C>G" "" "{PMID:Yamaguchi 2002:12056405}" "" "IVS1+3427 C/G (beta transcript); NM_001048174.1: -6-1960G>C (beta transcript)" "" "Unknown" "" "rs3219479" "0" "" "" "g.45336471C>G" "" "VUS" "" "0000418385" "1" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1185_1186dup (Glu396GlyfsX43)" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418386" "2" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1185_1186dup (Glu396GlyfsX43)" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418387" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418388" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418389" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418390" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418391" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418392" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418393" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418394" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418395" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418396" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00640" "MUTYH_000097" "g.45797835T>G" "" "Clinical Genetics, LUMC, Leiden, NL" "" "891+3A>C (Gly250TrpfsX7)" "Alamut: donor site intron 10 affected; predicted skip exon 10" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000418397" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}; {PMID:Nielsen 2009b:19527492}; Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418398" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}; {PMID:Nielsen 2009b:19527492}; Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418399" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}; {PMID:Nielsen 2009b:19527492}; Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418400" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}; {PMID:Nielsen 2009b:19527492}; Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418401" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418402" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418403" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418404" "0" "70" "1" "45798112" "45798112" "subst" "4.08383E-6" "00640" "MUTYH_000016" "g.45798112G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "697C>T (Arg233X)" "" "Germline" "" "" "0" "" "" "g.45332440G>A" "" "likely pathogenic" "" "0000418405" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418406" "0" "50" "1" "45797924" "45797924" "subst" "4.06964E-6" "00640" "MUTYH_000017" "g.45797924T>C" "" "Clinical Genetics, LUMC, Leiden, NL; {PMID:Van Puijenbroek 2008:18172263}?" "" "805A>G (Met269Val)" "" "Germline" "" "" "0" "" "" "g.45332252T>C" "" "VUS" "" "0000418407" "0" "70" "1" "45797481" "45797481" "subst" "4.62033E-5" "00640" "MUTYH_000064" "g.45797481C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "996G>A" "RT-PCR: inframe deletion of first 42 bp of exon 12; new acceptor splice site after c.1039." "Germline" "" "" "0" "" "" "g.45331809C>T" "" "likely pathogenic" "" "0000418408" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "RT-PCR, both with nonsense mediated decay (NMD) inhibition by cycloheximide and without: no affected splicing; r.1187G>A" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418409" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418410" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418411" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418412" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418413" "1" "70" "1" "45800129" "45800129" "del" "2.03039E-5" "00640" "MUTYH_000116" "g.45800129del" "" "Clinical Genetics, LUMC, Leiden, NL" "" "(Ala31ProfsX46)" "" "Germline" "" "" "0" "" "" "g.45334457del" "" "likely pathogenic" "" "0000418414" "2" "70" "1" "45800129" "45800129" "del" "2.03039E-5" "00640" "MUTYH_000116" "g.45800129del" "" "Clinical Genetics, LUMC, Leiden, NL" "" "(Ala31ProfsX46)" "" "Germline" "" "" "0" "" "" "g.45334457del" "" "likely pathogenic" "" "0000418415" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418416" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418417" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418418" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418419" "1" "50" "1" "45798129" "45798129" "subst" "2.85074E-5" "00640" "MUTYH_000166" "g.45798129C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "680G>A (Arg227Gln)" "" "Germline" "" "" "0" "" "" "g.45332457C>T" "" "VUS" "" "0000418420" "2" "50" "1" "45798129" "45798129" "subst" "2.85074E-5" "00640" "MUTYH_000166" "g.45798129C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "680G>A (Arg227Gln)" "" "Germline" "" "" "0" "" "" "g.45332457C>T" "" "VUS" "" "0000418421" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418422" "0" "50" "1" "45798439" "45798439" "subst" "6.09093E-5" "00640" "MUTYH_000167" "g.45798439C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "530G>A (Arg177Gln)" "" "Germline" "" "" "0" "" "" "g.45332767C>T" "" "VUS" "" "0000418423" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418424" "0" "70" "1" "45797534" "45797534" "subst" "0" "00640" "MUTYH_000101" "g.45797534A>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "956-13T>G (Ala319GlyfsX83)" "" "Germline" "" "" "0" "" "" "g.45331862A>C" "" "likely pathogenic" "" "0000418425" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418426" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00640" "MUTYH_000097" "g.45797835T>G" "" "Clinical Genetics, LUMC, Leiden, NL" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000418427" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418428" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418429" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418430" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418431" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418432" "0" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00640" "MUTYH_000018" "g.45797887G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000418433" "0" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418434" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000418435" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418436" "0" "50" "1" "45798467" "45798467" "subst" "4.06055E-6" "00640" "MUTYH_000040" "g.45798467G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "502C>T (Arg168Cys)" "" "Germline" "" "" "0" "" "" "g.45332795G>A" "" "VUS" "" "0000418437" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418438" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418439" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418440" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418441" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418442" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418443" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418444" "0" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00640" "MUTYH_000018" "g.45797887G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000418445" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418446" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418447" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418448" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418449" "1" "50" "1" "45796069" "45796069" "subst" "0" "00640" "MUTYH_000105" "g.45796069C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1476+119G>A" "" "Germline" "" "" "0" "" "" "g.45330397C>T" "" "VUS" "" "0000418450" "1" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "00642" "MUTYH_000018" "g.45797887G>A" "" "MGZ, Munchen, DE" "" "842C>T (Pro281Leu)" "" "Unknown" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000418451" "1" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "00642" "MUTYH_000018" "g.45797887G>A" "" "MGZ, Munchen, DE" "" "842C>T (Pro281Leu)" "" "Unknown" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000418452" "1" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "00642" "MUTYH_000018" "g.45797887G>A" "" "MGZ, Munchen, DE" "" "842C>T (Pro281Leu)" "" "Unknown" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000418453" "1" "90" "1" "45797507" "45797507" "subst" "6.56846E-5" "02939" "MUTYH_000062" "g.45797507G>A" "" "{PMID:Sampson 2003:12853198}" "" "970C>T (Gln324X)" "" "Unknown" "" "" "0" "" "" "g.45331835G>A" "" "pathogenic" "" "0000418454" "1" "90" "1" "45797507" "45797507" "subst" "6.56846E-5" "00642" "MUTYH_000062" "g.45797507G>A" "" "MGZ, Munchen, DE" "" "969C>T (Gln324X)" "" "Unknown" "" "" "0" "" "" "g.45331835G>A" "" "pathogenic" "" "0000418455" "1" "90" "1" "45797477" "45797478" "del" "0" "00642" "MUTYH_000169" "g.45797477_45797478del" "" "MGZ, Munchen, DE" "" "999_1000delGC (Glu333AspfsX184)" "" "Unknown" "" "" "0" "" "" "g.45331805_45331806del" "" "pathogenic" "" "0000418456" "1" "50" "1" "0" "0" "" "0" "00642" "MUTYH_000000" "g.?" "" "MGZ, Munchen, DE" "" "1082G>A (Arg350His)" "PolyPhen PSIC 1.6 possibly damaging" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000418457" "0" "50" "1" "45798467" "45798467" "subst" "4.06055E-6" "00642" "MUTYH_000040" "g.45798467G>A" "" "" "" "502C>T (Arg168Cys)" "" "Unknown" "" "" "0" "" "" "g.45332795G>A" "" "VUS" "" "0000418458" "0" "50" "1" "45798475" "45798475" "subst" "0.00148617" "00642" "MUTYH_000012" "g.45798475T>C" "" "" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "VUS" "" "0000418459" "1" "50" "1" "0" "0" "" "0" "00642" "MUTYH_000000" "g.?" "" "MGZ, Munchen, DE" "" "1082G>A (Arg350His)" "PolyPhen PSIC 1.6 possibly damaging" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000418460" "0" "50" "1" "45798475" "45798475" "subst" "0.00148617" "00642" "MUTYH_000012" "g.45798475T>C" "" "" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "VUS" "" "0000418461" "1" "90" "1" "45797374" "45797374" "del" "0" "00642" "MUTYH_000069" "g.45797374del" "" "MGZ, Munchen, DE" "" "1105del; 1105delC; 1103delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418462" "1" "90" "1" "45797202" "45797202" "subst" "0" "00642" "MUTYH_000076" "g.45797202G>A" "" "MGZ, Munchen, DE" "" "1171C>T (Pro391Ser)" "" "Unknown" "" "" "0" "" "" "g.45331530G>A" "" "pathogenic" "" "0000418464" "1" "90" "1" "45797188" "45797189" "dup" "0" "00642" "MUTYH_000078" "g.45797188_45797189dup" "" "MGZ, Munchen, DE" "" "1185_1186dup; 1186_1187insGG (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418465" "1" "90" "1" "45797174" "45797174" "subst" "0" "00642" "MUTYH_000079" "g.45797174T>C" "" "MGZ, Munchen, DE" "" "1199A>G (Gln400Arg)" "" "Unknown" "" "" "0" "" "" "g.45331502T>C" "" "pathogenic" "" "0000418466" "1" "90" "1" "45796912" "45796912" "subst" "2.84243E-5" "00642" "MUTYH_000123" "g.45796912G>T" "" "MGZ, Munchen, DE" "" "1376C>A (Ala459Asp)" "" "Unknown" "" "" "0" "" "" "g.45331240G>T" "" "pathogenic" "" "0000418467" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00642" "MUTYH_000063" "g.45797505C>G" "" "" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418468" "1" "50" "1" "45796895" "45796895" "subst" "3.65456E-5" "00642" "MUTYH_000174" "g.45796895C>T" "" "MGZ, Munchen, DE" "" "1393G>A (Glu465Lys)" "" "Unknown" "" "" "0" "" "" "g.45331223C>T" "" "VUS" "" "0000418469" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Halford 2003:12707038}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418470" "1" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Halford 2003:12707038}" "" "1395_1397del; 1395-7 delGGA (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418471" "1" "90" "1" "45796895" "45796897" "del" "0" "00642" "MUTYH_000086" "g.45796895_45796897del" "" "MGZ, Munchen, DE" "" "1395_1397del; 1392delGGA (Glu465del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418472" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "00642" "MUTYH_000018" "g.45797887G>A" "" "" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000418473" "1" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "00642" "MUTYH_000088" "g.45796892C>A" "" "MGZ, Munchen, DE" "" "1396G>T (Glu466X)" "PolyPhen: begign; ESEfinder 3.0 o.B., in ATPase domain" "Unknown" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000418474" "1" "70" "1" "45796870" "45796870" "del" "0" "00642" "MUTYH_000090" "g.45796870del" "" "MGZ, Munchen, DE" "" "1419del; 1419delC (Thr474ProfsX)" "" "Unknown" "" "" "0" "" "" "g.45331198del" "" "likely pathogenic" "" "0000418475" "1" "50" "1" "45796198" "45796198" "subst" "0.000109146" "00642" "MUTYH_000176" "g.45796198C>T" "" "MGZ, Munchen, DE" "" "1466G>A (Gly489Glu)" "" "Unknown" "" "" "0" "" "" "g.45330526C>T" "" "VUS" "" "0000418476" "1" "50" "1" "45795084" "45795084" "subst" "0.00839094" "00642" "MUTYH_000094" "g.45795084G>A" "" "MGZ, Munchen, DE" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418477" "1" "50" "1" "45795043" "45795043" "subst" "0.00341909" "00642" "MUTYH_000177" "g.45795043G>T" "" "MGZ, Munchen, DE" "" "1543C>A (Leu515Met)" "" "Unknown" "" "" "0" "" "" "g.45329371G>T" "" "VUS" "" "0000418478" "1" "50" "1" "45795027" "45795027" "subst" "0.00255411" "00642" "MUTYH_000096" "g.45795027C>T" "" "MGZ, Munchen, DE" "" "1559G>A (Arg520Gln)" "" "Unknown" "" "rs3219497" "0" "" "" "g.45329355C>T" "" "VUS" "" "0000418479" "1" "50" "1" "45805919" "45805919" "subst" "4.09065E-6" "00642" "MUTYH_000178" "g.45805919G>A" "" "MGZ, Munchen, DE" "" "" "" "Unknown" "" "" "0" "" "" "g.45340247G>A" "" "VUS" "" "0000418480" "1" "90" "1" "45800171" "45800171" "subst" "0" "00642" "MUTYH_000179" "g.45800171T>A" "" "MGZ, Munchen, DE" "" "" "" "Unknown" "" "" "0" "" "" "g.45334499T>A" "" "pathogenic" "" "0000418481" "0" "50" "1" "45798475" "45798475" "subst" "0.00148617" "00642" "MUTYH_000012" "g.45798475T>C" "" "" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "VUS" "" "0000418482" "1" "50" "1" "45800156" "45800156" "subst" "0.0487424" "00642" "MUTYH_000005" "g.45800156C>T" "" "MGZ, Munchen, DE" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418483" "0" "90" "1" "45798467" "45798467" "subst" "4.06055E-6" "00642" "MUTYH_000040" "g.45798467G>A" "" "" "" "502C>T (Arg168Cys)" "" "Unknown" "" "" "0" "" "" "g.45332795G>A" "" "pathogenic" "" "0000418484" "1" "50" "1" "45800033" "45800033" "subst" "0.0238208" "00642" "MUTYH_000006" "g.45800033T>C" ">0.01" "MGZ, Munchen, DE" "" "156+30A>G" "" "Unknown" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000418485" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00642" "MUTYH_000063" "g.45797505C>G" "" "" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418486" "0" "90" "1" "45798467" "45798467" "subst" "4.06055E-6" "00642" "MUTYH_000040" "g.45798467G>A" "" "" "" "502C>T (Arg168Cys)" "" "Unknown" "" "" "0" "" "" "g.45332795G>A" "" "pathogenic" "" "0000418488" "1" "50" "1" "45805566" "45805566" "subst" "0" "00642" "MUTYH_000004" "g.45805566C>G" "" "MGZ, Munchen, DE" "" "IVS1+5G>C; 156+5G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000418489" "1" "90" "1" "45799144" "45799144" "subst" "1.21819E-5" "00642" "MUTYH_000029" "g.45799144G>A" "" "MGZ, Munchen, DE" "" "247C>T (Arg83X)" "" "Unknown" "" "" "0" "" "" "g.45333472G>A" "" "pathogenic" "" "0000418490" "1" "50" "1" "45799126" "45799126" "subst" "0" "00642" "MUTYH_000181" "g.45799126A>G" "" "MGZ, Munchen, DE" "" "265T>C (Trp89Arg)" "" "Unknown" "" "rs1140507" "0" "" "" "g.45333454A>G" "" "VUS" "" "0000418491" "1" "90" "1" "45799121" "45799121" "subst" "0.000121822" "00642" "MUTYH_000032" "g.45799121G>T" "" "MGZ, Munchen, DE" "" "270C>A (Tyr90X)" "" "Unknown" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418492" "1" "90" "1" "45798963" "45798963" "subst" "0" "00642" "MUTYH_000033" "g.45798963A>G" "" "MGZ, Munchen, DE" "" "340T>C (Tyr114His)" "" "Unknown" "" "" "0" "" "" "g.45333291A>G" "" "pathogenic" "" "0000418493" "1" "50" "1" "45798901" "45798901" "subst" "0" "00642" "MUTYH_000009" "g.45798901C>T" ">0.01" "MGZ, Munchen, DE" "" "346+56G>A" "" "Unknown" "" "" "0" "" "" "g.45333229C>T" "" "VUS" "" "0000418494" "1" "90" "1" "45798843" "45798843" "subst" "0" "00642" "MUTYH_000110" "g.45798843C>T" "" "MGZ, Munchen, DE" "" "347-1G>A" "" "Unknown" "" "" "0" "" "" "g.45333171C>T" "" "pathogenic" "" "0000418495" "1" "90" "1" "45798840" "45798840" "subst" "4.06184E-6" "00642" "MUTYH_000034" "g.45798840A>T" "" "MGZ, Munchen, DE" "" "349T>A (Trp117Arg)" "" "Unknown" "" "" "0" "" "" "g.45333168A>T" "" "pathogenic" "" "0000418496" "1" "90" "1" "45798773" "45798778" "dup" "0" "00642" "MUTYH_000037" "g.45798773_45798778dup" "" "MGZ, Munchen, DE" "" "411_416dup; 411dupATGGAT (Trp138_Met139insIleTrp)" "" "Unknown" "" "" "0" "" "" "g.45333101_45333106dup" "" "pathogenic" "" "0000418497" "1" "90" "1" "45798467" "45798467" "subst" "4.06055E-6" "00642" "MUTYH_000040" "g.45798467G>A" "" "MGZ, Munchen, DE" "" "502C>T (Arg168Cys)" "conserved domain" "Unknown" "" "" "0" "" "" "g.45332795G>A" "" "pathogenic" "" "0000418498" "0" "50" "1" "45797428" "45797428" "subst" "2.03772E-5" "00642" "MUTYH_000216" "g.45797428C>T" "" "" "" "1049G>A (Arg350His)" "" "Germline" "" "" "0" "" "" "g.45331756C>T" "" "VUS" "" "0000418499" "0" "50" "1" "45798475" "45798475" "subst" "0.00148617" "00642" "MUTYH_000012" "g.45798475T>C" "" "" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "VUS" "" "0000418500" "1" "90" "1" "45798466" "45798466" "subst" "8.12123E-6" "00642" "MUTYH_000041" "g.45798466C>T" "" "MGZ, Munchen, DE" "" "503G>A (Arg168His)" "" "Unknown" "" "" "0" "" "" "g.45332794C>T" "" "pathogenic" "" "0000418501" "2" "70" "1" "45798457" "45798457" "subst" "8.1211E-6" "00645" "MUTYH_000183" "g.45798457C>T" "" "{PMID:Russell 2006:16287072}" "" "512G>A (Arg171Gln); R171Q" "0/200 Swiss control chromosomes; evolutionary highly conserved across distantly related species (E. coli, S. pombe, mouse, rat and human); helix barrel domain; contains Helix-Hairpin-Helix motif; part of DNA binding complex (Guan , 1998)" "Unknown" "" "" "0" "" "" "g.45332785C>T" "" "likely pathogenic" "" "0000418502" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Russell 2006:16287072}" "" "494A>G (Tyr165Cys); Y165C" "0/200 Swiss control chromosomes" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418503" "1" "90" "1" "45798289" "45798289" "subst" "8.12229E-6" "00642" "MUTYH_000184" "g.45798289C>T" "" "MGZ, Munchen, DE" "" "605G>A (Gly202Glu)" "conserved domain" "Unknown" "" "" "0" "" "" "g.45332617C>T" "" "pathogenic" "" "0000418504" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00642" "MUTYH_000063" "g.45797505C>G" "" "" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418505" "1" "50" "1" "45798269" "45798269" "subst" "0.000215279" "00642" "MUTYH_000045" "g.45798269T>C" "" "MGZ, Munchen, DE" "" "625A>G (Ile209Val)" "" "Unknown" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000418506" "1" "50" "1" "45798256" "45798256" "subst" "0" "00642" "MUTYH_000185" "g.45798256G>A" "" "MGZ, Munchen, DE" "" "638C>T (Ala213Val)" "" "Unknown" "" "rs11545695" "0" "" "" "g.45332584G>A" "" "VUS" "" "0000418507" "1" "50" "1" "45798225" "45798225" "subst" "0.00721521" "00642" "MUTYH_000070" "g.45798225G>T" "" "MGZ, Munchen, DE" "" "648+21C>A" "" "Unknown" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000418510" "1" "90" "1" "45798118" "45798118" "subst" "5.29614E-5" "00642" "MUTYH_000132" "g.45798118G>A" "" "MGZ, Munchen, DE" "" "691C>T (Arg231Cys)" "" "Unknown" "" "" "0" "" "" "g.45332446G>A" "" "pathogenic" "" "0000418511" "2" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00645" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Russell 2006:16287072}" "" "692G>A (Arg231His); R231H" "0/200 Swiss control chromosomes; evolutionary highly conserved across distantly related species (E. coli, S. pombe, mouse, rat and human); in alpha-8 helix making up the cluster domain; part of DNA binding complex (Guan , 1998)" "Unknown" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000418512" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Russell 2006:16287072}" "" "494A>G (Tyr165Cys); Y165C" "0/200 Swiss control chromosomes" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418513" "1" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "00642" "MUTYH_000051" "g.45798117C>T" "" "MGZ, Munchen, DE" "" "692G>A (Arg231His)" "" "Unknown" "" "" "0" "" "" "g.45332445C>T" "" "pathogenic" "" "0000418514" "1" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00642" "MUTYH_000097" "g.45797835T>G" "" "MGZ, Munchen, DE" "" "891+3A>C" "" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000418515" "1" "50" "1" "45797548" "45797548" "subst" "0.00119508" "00642" "MUTYH_000137" "g.45797548C>T" "" "MGZ, Munchen, DE" "" "956-27G>A; 956-27C>T (?)" "" "Unknown" "" "" "0" "" "" "g.45331876C>T" "" "VUS" "" "0000418516" "1" "50" "1" "45797529" "45797529" "subst" "0" "00642" "MUTYH_000187" "g.45797529C>T" "" "MGZ, Munchen, DE" "" "956-8G>A" "carries nonsense change in APC; Alamut: no major effect predicted on acceptor splice site of intron 11" "Unknown" "" "" "0" "" "" "g.45331857C>T" "" "VUS" "" "0000418517" "1" "50" "1" "45797255" "45797255" "subst" "0.0036991" "00642" "MUTYH_000104" "g.45797255G>A" "" "MGZ, Munchen, DE" "" "1145-27C>T" "" "Unknown" "" "rs3219490" "0" "" "" "g.45331583G>A" "" "VUS" "" "0000418518" "0" "50" "1" "0" "0" "" "0" "00642" "MUTYH_000000" "g.?" "" "" "" "1249C>A (Leu406Met)" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000418519" "1" "50" "1" "45796247" "45796247" "subst" "0" "00642" "MUTYH_000188" "g.45796247G>A" "" "MGZ, Munchen, DE" "" "1435-18C>T" "Splice Site prediction (NN Splice+NetGene2) negative; Alamut: no major splice site change predicted" "Unknown" "" "" "0" "" "" "g.45330575G>A" "" "VUS" "" "0000418520" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Barnetson 2007:17956577}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418521" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Barnetson 2007:17956577}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418522" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Barnetson 2007:17956577}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418523" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Barnetson 2007:17956577}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418524" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "0.01 (?); n=225" "{PMID:Barnetson 2007:17956577}" "" "35+325G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000418525" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "0.07 (?); n=225" "{PMID:Barnetson 2007:17956577}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418526" "0" "50" "1" "45798225" "45798225" "subst" "0.00721521" "02939" "MUTYH_000070" "g.45798225G>T" "0.02 (?); n=225" "{PMID:Barnetson 2007:17956577}" "" "648+21C>A" "" "Unknown" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000418527" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "0.07 (?); n=225" "{PMID:Barnetson 2007:17956577}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418528" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "" "NCBI reference sequence NC_000001.10" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002).\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." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000418529" "0" "50" "1" "45805566" "45805566" "subst" "0" "02939" "MUTYH_000004" "g.45805566C>G" "" "NCBI reference sequence NT_032977.9" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002).\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." "Unknown" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000418530" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Pineda 2009:19931546} reviewed: {PMID:Sampson 2003:12853198}" "" "270C>A (Tyr90X); Tyr90X" "Review" "Unknown" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418531" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Pineda 2009:19931546} reviewed: {PMID:Al-Tassan 2002:11818965}" "" "494A>G; 494A > G (Tyr165Cys)" "Review" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418536" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418537" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418538" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418539" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418540" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418541" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418542" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418543" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418544" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418545" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418546" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02939" "MUTYH_000072" "g.45797348G>A" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1129C>T;1131C>T (Gln377X)" "" "Germline" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000418547" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418548" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418549" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418550" "1" "90" "1" "45797188" "45797189" "dup" "0" "02939" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1186_1187insGG (Glu396GlyfsX43)" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418551" "2" "90" "1" "45797188" "45797189" "dup" "0" "02939" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1186_1187insGG (Glu396GlyfsX43)" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418552" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1103delC;1105del (Ala371ProfsX23);(Ala369AlafsX26)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418553" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418554" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418555" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418556" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418557" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418558" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418559" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418560" "1" "90" "1" "45797188" "45797189" "dup" "0" "02939" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1186_1187insGG (Glu396GlyfsX43)" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418561" "2" "90" "1" "45797188" "45797189" "dup" "0" "02939" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1186_1187insGG (Glu396GlyfsX43)" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418562" "1" "90" "1" "45797188" "45797189" "dup" "0" "02939" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1186_1187insGG (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418563" "2" "90" "1" "45797188" "45797189" "dup" "0" "02939" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1186_1187insGG (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000418564" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418565" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418566" "0" "70" "1" "45798115" "45798115" "subst" "5.70395E-5" "02939" "MUTYH_000053" "g.45798115C>A" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "694G>T (Val232Phe)" "" "Unknown" "" "" "0" "" "" "g.45332443C>A" "" "likely pathogenic" "" "0000418567" "0" "50" "1" "45805982" "45805982" "subst" "0" "02939" "MUTYH_000011" "g.45805982C>G" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "" "new in this paper; not in 500 control chromosomes" "Unknown" "" "" "0" "" "" "g.45340310C>G" "" "VUS" "" "0000418568" "0" "50" "1" "45800181" "45800181" "subst" "0" "02939" "MUTYH_000023" "g.45800181G>A" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "" "new in this paper; not in 500 control chromosomes" "Unknown" "" "" "0" "" "" "g.45334509G>A" "" "VUS" "" "0000418569" "0" "50" "1" "45799122" "45799122" "subst" "0" "02939" "MUTYH_000025" "g.45799122T>C" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "269A>G (Tyr90Cys)" "new in this paper; Polyphen: possibly damaging; not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.45333450T>C" "" "VUS" "" "0000418570" "0" "50" "1" "45798461" "45798461" "subst" "1.21818E-5" "02939" "MUTYH_000035" "g.45798461G>A" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "508C>T (Arg170Trp)" "new in this paper; Polyphen: possibly damaging; not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.45332789G>A" "" "VUS" "" "0000418571" "0" "50" "1" "45797967" "45797967" "subst" "0" "02939" "MUTYH_000036" "g.45797967C>T" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "762G>A (Gln254Gln)" "new in this paper; not in 500 control chromosomes" "Unknown" "" "" "0" "" "" "g.45332295C>T" "" "VUS" "" "0000418572" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02939" "MUTYH_000081" "g.45797139G>A" "" "{PMID:Gómez-Fernández 2009:19531215}" "" "1234C>T (Arg412Cys)" "Polyphen: possibly damaging; not in 500 control chromosomes" "Unknown" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000418573" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Guillen-Ponce 2009:19998059}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418574" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Guillen-Ponce 2009:19998059}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418575" "1" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "" "{PMID:Ajith Kumar 2008:17874208}" "" "1396G>T (Glu466X); E466X" "" "Germline" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000418576" "2" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "" "{PMID:Ajith Kumar 2008:17874208}" "" "1396G>T (Glu466X); E466X" "" "Germline" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000418577" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "178/2512=7.1%" "{PMID:Agalliu 2009:19902366}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418578" "1" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "178/2512=7.1%" "{PMID:Agalliu 2009:19902366}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418579" "2" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "178/2512=7.1%" "{PMID:Agalliu 2009:19902366}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418580" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "3/286=1.0%" "{PMID:Agalliu 2009:19902366}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418581" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "183/2496=7.3%" "{PMID:Agalliu 2009:19902366}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418582" "1" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "183/2496=7.3%" "{PMID:Agalliu 2009:19902366}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418583" "2" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "183/2496=7.3%" "{PMID:Agalliu 2009:19902366}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418584" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "4/158=2.5%" "{PMID:Agalliu 2009:19902366}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418585" "0" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "625/2520=24.8%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418586" "1" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "625/2520=24.8%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418587" "2" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "625/2520=24.8%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418588" "0" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "151/290=52.1%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418589" "1" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "151/290=52.1%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418590" "2" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "151/290=52.1%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418591" "0" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "637/2494=25.5%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418592" "1" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "637/2494=25.5%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418593" "2" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "637/2494=25.5%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418594" "0" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "78/158=49.4%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418595" "1" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "78/158=49.4%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418596" "2" "50" "1" "45810091" "45810091" "subst" "0" "02939" "MUTYH_000039" "g.45810091A>G" "78/158=49.4%" "{PMID:Agalliu 2009:19902366}" "" "" "NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G" "Unknown" "" "rs9429072" "0" "" "" "g.45344419A>G" "" "VUS" "" "0000418597" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Agalliu 2009:19902366}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418598" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418599" "0" "90" "1" "45798115" "45798115" "subst" "5.70395E-5" "02939" "MUTYH_000053" "g.45798115C>A" "" "{PMID:Filipe 2009:19793053}" "" "694G>T (Val232Phe)" "" "Germline" "" "" "0" "" "" "g.45332443C>A" "" "pathogenic" "" "0000418600" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418601" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418602" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Filipe 2009:19793053}" "" "1105del; 1105delC; 1103delC (Ala371ProfsX23); (Ala368fs)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418603" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Filipe 2009:19793053}" "" "1395_1397delGGA (Glu466del); (Glu466fs)" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418604" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418605" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418606" "1" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Filipe 2009:19793053}" "" "1105del; 1105delC; 1103delC (Ala371ProfsX23); (Ala368fs)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418607" "2" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Filipe 2009:19793053}" "" "1105del; 1105delC; 1103delC (Ala371ProfsX23); (Ala368fs)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418608" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418609" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418610" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418611" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418612" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418613" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418614" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418615" "0" "90" "1" "45798843" "45798843" "subst" "0" "02939" "MUTYH_000110" "g.45798843C>T" "" "{PMID:Filipe 2009:19793053}" "" "347-1G>C" "" "Germline" "" "" "0" "" "" "g.45333171C>T" "" "pathogenic" "" "0000418616" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418617" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418618" "1" "90" "1" "45799144" "45799144" "subst" "1.21819E-5" "02939" "MUTYH_000029" "g.45799144G>A" "" "{PMID:Filipe 2009:19793053}" "" "247C>T (Arg83X)" "" "Germline" "" "" "0" "" "" "g.45333472G>A" "" "pathogenic" "" "0000418619" "2" "90" "1" "45799144" "45799144" "subst" "1.21819E-5" "02939" "MUTYH_000029" "g.45799144G>A" "" "{PMID:Filipe 2009:19793053}" "" "247C>T (Arg83X)" "" "Germline" "" "" "0" "" "" "g.45333472G>A" "" "pathogenic" "" "0000418620" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418621" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418622" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418623" "0" "90" "1" "45798843" "45798843" "subst" "0" "02939" "MUTYH_000110" "g.45798843C>T" "" "{PMID:Filipe 2009:19793053}" "" "347-1G>C" "" "Germline" "" "" "0" "" "" "g.45333171C>T" "" "pathogenic" "" "0000418624" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418625" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418626" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418627" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418628" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418629" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418630" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418631" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418632" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418633" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418634" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418635" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418636" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418637" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418638" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Filipe 2009:19793053}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418639" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Filipe 2009:19793053}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418640" "0" "50" "1" "45798440" "45798440" "subst" "1.21818E-5" "02939" "MUTYH_000049" "g.45798440G>A" "" "{PMID:Riegert-Johnson 2007:18294051}" "" "529C>T (Arg177Trp)" "PolyPhen probably damaging" "Unknown" "" "" "0" "" "" "g.45332768G>A" "" "VUS" "" "0000418641" "0" "50" "1" "45798098" "45798098" "subst" "0" "02939" "MUTYH_000241" "g.45798098A>G" "" "{PMID:Riegert-Johnson 2007:18294051}" "" "711T>C; 711C>T (Ala237Ala)" "" "Unknown" "" "" "0" "" "" "g.45332426A>G" "" "VUS" "" "0000418642" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Riegert-Johnson 2007:18294051}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418643" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Riegert-Johnson 2007:18294051}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418644" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Riegert-Johnson 2007:18294051}; {PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418645" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Riegert-Johnson 2007:18294051}; {PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418646" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Riegert-Johnson 2007:18294051}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418647" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Riegert-Johnson 2007:18294051}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418648" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Riegert-Johnson 2007:18294051}; {PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418649" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Riegert-Johnson 2007:18294051}; {PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418650" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418651" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418652" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418653" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418654" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418655" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418656" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418657" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418658" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418659" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418660" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418661" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418662" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418663" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418664" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418665" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418666" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418667" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418668" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418669" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418670" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418671" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418672" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418673" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418674" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418675" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418676" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418677" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418678" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418679" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418680" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418681" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418682" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418683" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418684" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418685" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418686" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418687" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418688" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418689" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418690" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418691" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418692" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418693" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418694" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418695" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wang 2004:15236166}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418696" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wang 2004:15236166}" "" "1145G>A (Gly382asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418697" "0" "90" "1" "45796890" "45796892" "del" "0" "02939" "MUTYH_000057" "g.45796890_45796892del" "" "{PMID:Fricker and Payne 2004:15176384}" "" "1394_1396del; CG^CAGGaggAATTT (Glu466del); (Glu464del); 464" "" "Unknown" "" "" "0" "" "" "g.45331218_45331220del" "" "pathogenic" "" "0000418698" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Kim 2004:15449173}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418699" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Peterlongo 2005:15578699}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418700" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Peterlongo 2005:15578699}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418701" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Peterlongo 2005:15578699}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418702" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Peterlongo 2005:15578699}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418703" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Peterlongo 2005:15578699}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418704" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Peterlongo 2005:15578699}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418705" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Peterlongo 2005:15578699}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418706" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Peterlongo 2005:15578699}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418707" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Peterlongo 2005:15578699}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418708" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Peterlongo 2005:15578699}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418709" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Peterlongo 2005:15578699}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418710" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/120 (1.67%) Australian control subjects" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418711" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418712" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418713" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418714" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418715" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418716" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418717" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418718" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418719" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418720" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418721" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418722" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418723" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418724" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418725" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418726" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418727" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418728" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418729" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418730" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418731" "0" "50" "1" "45797481" "45797481" "subst" "4.62033E-5" "02939" "MUTYH_000064" "g.45797481C>T" "" "{PMID:Kairupan 2005:15761860}" "" "996G>A; G996A (Ser332Ser)" "" "Unknown" "" "" "0" "" "" "g.45331809C>T" "" "VUS" "" "0000418732" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418733" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418734" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Kairupan 2005:15761860}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418735" "0" "50" "1" "45796865" "45796865" "subst" "3.65515E-5" "02939" "MUTYH_000059" "g.45796865C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1423G>A; G1423A (Ala475Thr); A475T" "not in known functional domain; conserved between Mouse and Man (Kairupan , 2005)" "Unknown" "" "" "0" "" "" "g.45331193C>T" "" "VUS" "" "0000418736" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418737" "0" "70" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Kairupan 2005:15761860}" "" "891+3A>C; 9034A>C (AF527839); IVS10+3" "predicted to retain intron 10 in coding region of transcript with termination codon 27 bases upstream of 5 prime end of intron; www.fruitfly.org; Kairupan , 2005" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "likely pathogenic" "" "0000418738" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418739" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Kairupan 2005:15761860}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418740" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kairupan 2005:15761860}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418741" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418742" "0" "50" "1" "45799124" "45799124" "subst" "4.06062E-6" "02939" "MUTYH_000060" "g.45799124C>T" "" "{PMID:Kairupan 2005:15761860}" "" "267G>A; G267A (Trp89X); W98X" "" "Unknown" "" "" "0" "" "" "g.45333452C>T" "" "VUS" "" "0000418743" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Kairupan 2005:15761860}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418744" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418745" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kairupan 2005:15761860}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418746" "0" "70" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Kairupan 2005:15761860}" "" "891+3A>C; 9034A>C (AF527839); IVS10+3" "predicted to retain intron 10 in coding region of transcript with termination codon 27 bases upstream of 5 prime end of intron; www.fruitfly.org; Kairupan , 2005" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "likely pathogenic" "" "0000418747" "1" "70" "1" "45796890" "45796892" "del" "0" "02939" "MUTYH_000057" "g.45796890_45796892del" "" "{PMID:Kairupan 2005:15761860}" "" "1394_1396del; 1391delAGG (Glu466del)" "MutT-like domain; highly conserved between Mouse and Man" "Unknown" "" "" "0" "" "" "g.45331218_45331220del" "" "likely pathogenic" "" "0000418748" "2" "70" "1" "45796890" "45796892" "del" "0" "02939" "MUTYH_000057" "g.45796890_45796892del" "" "{PMID:Kairupan 2005:15761860}" "" "1394_1396del; 1391delAGG (Glu466del)" "MutT-like domain; highly conserved between Mouse and Man" "Unknown" "" "" "0" "" "" "g.45331218_45331220del" "" "likely pathogenic" "" "0000418749" "2" "90" "1" "45798118" "45798118" "subst" "5.29614E-5" "02939" "MUTYH_000132" "g.45798118G>A" "" "{PMID:Miyaki 2005:15890374}" "" "691C>T (Arg231Cys); R231C" "0/160 control alleles" "Unknown" "" "" "0" "" "" "g.45332446G>A" "" "pathogenic" "" "0000418750" "1" "90" "1" "45798118" "45798118" "subst" "5.29614E-5" "02939" "MUTYH_000132" "g.45798118G>A" "" "{PMID:Miyaki 2005:15890374}" "" "691C>T (Arg231Cys); R231C" "0/160 control alleles" "Unknown" "" "" "0" "" "" "g.45332446G>A" "" "pathogenic" "" "0000418751" "0" "90" "1" "45797760" "45797760" "subst" "0.00108835" "02939" "MUTYH_000098" "g.45797760T>C" "" "{PMID:Miyaki 2005:15890374}" "" "892-2A>G; IVS10-2A>G" "retaining intron 10 with premature stop codon: truncated protein without NLS and binding sites APE1+PCNA; 0/160 control alleles" "Unknown" "" "" "0" "" "" "g.45332088T>C" "" "pathogenic" "" "0000418752" "0" "90" "1" "45797760" "45797760" "subst" "0.00108835" "02939" "MUTYH_000098" "g.45797760T>C" "" "{PMID:Miyaki 2005:15890374}" "" "892-2A>G; IVS10-2A>G" "retaining intron 10 with premature stop codon: truncated protein without NLS and binding sites APE1+PCNA; 0/160 control alleles" "Unknown" "" "" "0" "" "" "g.45332088T>C" "" "pathogenic" "" "0000418753" "0" "90" "1" "45797760" "45797760" "subst" "0.00108835" "02939" "MUTYH_000098" "g.45797760T>C" "" "{PMID:Miyaki 2005:15890374}" "" "892-2A>G; IVS10-2A>G" "retaining intron 10 with premature stop codon: truncated protein without NLS and binding sites APE1+PCNA; 0/160 control alleles" "Unknown" "" "" "0" "" "" "g.45332088T>C" "" "pathogenic" "" "0000418754" "0" "50" "1" "45805880" "45805880" "subst" "0.00332968" "02939" "MUTYH_000003" "g.45805880G>A" "2,1% of n=84" "{PMID:Zhou 2005:15943555}" "" "IVS1+11C>T" "www.fruitfly.org: no splicing effect" "Unknown" "" "" "0" "" "" "g.45340208G>A" "" "VUS" "" "0000418755" "0" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "9,2% of n=84" "{PMID:Zhou 2005:15943555}" "" "IVS2+30A>G" "www.fruitfly.org: no splicing effect" "Unknown" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000418756" "0" "50" "1" "45799988" "45799988" "subst" "0" "02939" "MUTYH_000154" "g.45799988C>T" "1.1% of n=84" "{PMID:Zhou 2005:15943555}" "" "IVS2+75G>A" "www.fruitfly.org: no splicing effect" "Unknown" "" "" "0" "" "" "g.45334316C>T" "" "VUS" "" "0000418757" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "16,1% of n=84" "{PMID:Zhou 2005:15943555}" "" "V22M" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418758" "0" "50" "1" "45798225" "45798225" "subst" "0.00721521" "02939" "MUTYH_000070" "g.45798225G>T" "4,3% of n=84" "{PMID:Zhou 2005:15943555}" "" "648+21C>A; IVS8+21C>A" "www.fruitfly.org: no splicing effect" "Unknown" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000418759" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "42,6% of n=84" "{PMID:Zhou 2005:15943555}" "" "972G>C (Gln324His); Q324H" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418760" "0" "50" "1" "45797255" "45797255" "subst" "0.0036991" "02939" "MUTYH_000104" "g.45797255G>A" "1.1% of n=84" "{PMID:Zhou 2005:15943555}" "" "1145-27C>T; IVS12-27C>T" "www.fruitfly.org: no splicing effect" "Unknown" "" "rs3219490" "0" "" "" "g.45331583G>A" "" "VUS" "" "0000418761" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "02939" "MUTYH_000085" "g.45796899C>G" "1.1% of n=84" "{PMID:Zhou 2005:15943555}" "" "1389G>C (Thr463Thr); T463T" "seemingly nonpathogenic silent sequence change" "Unknown" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418762" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "12,8% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations" "{PMID:Zhou 2005:15943555}" "" "1435-40G>C; IVS14-40G>C" "www.fruitfly.org: no splicing effect\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." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418763" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "2,1% of n=84" "{PMID:Zhou 2005:15943555}" "" "1502C>T (Ser501Phe); S501F" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418764" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "82/376 (22%)" "{PMID:Zhou 2005:15943555}" "" "972G>C (Gln324His); Q324H" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418765" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "82/376 (22%)" "{PMID:Zhou 2005:15943555}" "" "972G>C (Gln324His); Q324H" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418766" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "82/376 (22%)" "{PMID:Zhou 2005:15943555}" "" "972G>C (Gln324His); Q324H" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418767" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "174/824 (21%)" "{PMID:Zhou 2005:15943555}" "" "972G>C (Gln324His); Q324H" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418768" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "174/824 (21%)" "{PMID:Zhou 2005:15943555}" "" "972G>C (Gln324His); Q324H" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418769" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "174/824 (21%)" "{PMID:Zhou 2005:15943555}" "" "972G>C (Gln324His); Q324H" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418770" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "4/876 (0.5%)" "{PMID:Zhou 2005:15943555}" "" "494A>G (Tyr165Cys); Y165C" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418771" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/938 (0.2%)" "{PMID:Zhou 2005:15943555}" "" "494A>G (Tyr165Cys); Y165C" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418772" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/894 (0.2%)" "{PMID:Zhou 2005:15943555}" "" "1145G>A Gly382Asp; G382D" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418773" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/478 (0.21%) informative Swedish bloodbank controls; Not in 84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative" "{PMID:Zhou 2005:15943555}" "" "1145G>A Gly382Asp; G382D" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418774" "0" "50" "1" "45797105" "45797105" "subst" "4.062E-6" "02939" "MUTYH_000150" "g.45797105C>T" "3/894 (0.3%)" "{PMID:Zhou 2005:15943555}" "" "1268G>A (Arg423Gln); R423Q" "0/478 informative controls; amino acid not evolutionarily conserved" "Unknown" "" "" "0" "" "" "g.45331433C>T" "" "VUS" "" "0000418775" "0" "50" "1" "45797105" "45797105" "subst" "0" "02939" "MUTYH_000151" "g.45797105C>G" "1/447 informative Swedish sporadic CRC patients" "{PMID:Zhou 2005:15943555}" "" "1268G>C (Arg423Pro); R423P" "0/478 informative controls; amino acid not evolutionarily conserved" "Unknown" "" "" "0" "" "" "g.45331433C>G" "" "VUS" "" "0000418776" "0" "50" "1" "45797104" "45797104" "subst" "1.21857E-5" "02939" "MUTYH_000152" "g.45797104C>T" "1/447 informative Swedish sporadic CRC patients" "{PMID:Zhou 2005:15943555}" "" "1269G>A (Arg423Arg); R423R" "0/478 informative controls; amino acid not evolutionarily conserved" "Unknown" "" "" "0" "" "" "g.45331432C>T" "" "VUS" "" "0000418777" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1/4 Australian multiple adenoma patients" "{PMID:Wynter 2005:16152625}" "" "V22M" "Genotyping 7 variants: IVS115G/C, V22M, Y90X, Y165C, G382D, E466X, S501F" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418778" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/4 Australian multiple adenoma patients" "{PMID:Wynter 2005:16152625}" "" "1145G>A Gly382Asp; G382D" "Genotyping 7 variants: IVS115G/C, V22M, Y90X, Y165C, G382D, E466X, S501F" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418779" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/4 Australian multiple adenoma patients" "{PMID:Wynter 2005:16152625}" "" "1145G>A Gly382Asp; G382D" "Genotyping 7 variants: IVS115G/C, V22M, Y90X, Y165C, G382D, E466X, S501F" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418780" "0" "70" "1" "45798812" "45798812" "del" "0" "02939" "MUTYH_000061" "g.45798812del" "" "{PMID:Ponti 2005:16207212}; {PMID:Ponti 2007:17273161}" "" "379delC (Gln127ArgfsX5)" "protein should lack C-terminal domain" "Unknown" "" "" "0" "" "" "g.45333140del" "" "likely pathogenic" "" "0000418781" "0" "70" "1" "45798466" "45798466" "subst" "8.12123E-6" "02939" "MUTYH_000041" "g.45798466C>T" "" "{PMID:Ponti 2005:16207212}; {PMID:Ponti 2007:17273161}" "" "503G>A (Arg168His)" "well conserved (from bacteria to man); sebaceous tumor: BRAF V600E (c.1799T>A) mutation; no somatic mutation KRas/NRas/APC" "Unknown" "" "" "0" "" "" "g.45332794C>T" "" "likely pathogenic" "" "0000418782" "0" "70" "1" "45798812" "45798812" "del" "0" "02939" "MUTYH_000061" "g.45798812del" "" "{PMID:Ponti 2005:16207212}; {PMID:Ponti 2007:17273161}" "" "379delC (Gln127ArgfsX5)" "protein should lack C-terminal domain; No somatic BRAF V600E in sebaceous tumor" "Unknown" "" "" "0" "" "" "g.45333140del" "" "likely pathogenic" "" "0000418783" "0" "70" "1" "45798466" "45798466" "subst" "8.12123E-6" "02939" "MUTYH_000041" "g.45798466C>T" "" "{PMID:Ponti 2005:16207212}" "" "503G>A (Arg168His)" "well conserved (from bacteria to man)" "Unknown" "" "" "0" "" "" "g.45332794C>T" "" "likely pathogenic" "" "0000418784" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "6% of alleles" "{PMID:Russell 2006:16287072}" "" "V22M" "6% of alleles" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418785" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "2% of alleles" "{PMID:Russell 2006:16287072}" "" "V22M" "2% of alleles" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418786" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "17% of alleles" "{PMID:Russell 2006:16287072}" "" "972G>C (Gln324His); Q324H" "17% of alleles" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418787" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "12% of alleles" "{PMID:Russell 2006:16287072}" "" "972G>C (Gln324His); Q324H" "12% of alleles" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418788" "0" "70" "1" "45799141" "45799141" "del" "0" "00645" "MUTYH_000030" "g.45799141del" "" "{PMID:Sieber 2003:12606733}; {PMID:Russell 2006:16287072}" "" "252delG (Ser85AlafsX3); G84fs" "" "Unknown" "" "" "0" "" "" "g.45333469del" "" "likely pathogenic" "" "0000418789" "0" "70" "1" "45798773" "45798778" "dup" "0" "00645" "MUTYH_000037" "g.45798773_45798778dup" "" "{PMID:Sieber 2003:12606733}; {PMID:Russell 2006:16287072}" "" "411_416dup; 411dupATGGAT (Trp138_Met139insIleTrp); W138_M139insIW" "" "Unknown" "" "" "0" "" "" "g.45333101_45333106dup" "" "likely pathogenic" "" "0000418790" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Russell 2006:16287072}" "" "494A>G (Tyr165Cys); Y165C" "0/200 Swiss control chromosomes" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418791" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Russell 2006:16287072}" "" "494A>G (Tyr165Cys); Y165C" "0/200 Swiss control chromosomes" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418792" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Russell 2006:16287072}" "" "494A>G (Tyr165Cys); Y165C" "0/200 Swiss control chromosomes" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418793" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Russell 2006:16287072}" "" "494A>G (Tyr165Cys); Y165C" "0/200 Swiss control chromosomes" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418794" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Russell 2006:16287072}" "" "1145G>A Gly382Asp; G382D" "0/200 Swiss control chromosomes" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418795" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Russell 2006:16287072}" "" "1145G>A Gly382Asp; G382D" "0/200 Swiss control chromosomes" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418796" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Russell 2006:16287072}" "" "1145G>A Gly382Asp; G382D" "0/200 Swiss control chromosomes" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418797" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Russell 2006:16287072}" "" "1145G>A Gly382Asp; G382D" "0/200 Swiss control chromosomes" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418798" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Russell 2006:16287072}" "" "1145G>A Gly382Asp; G382D" "0/200 Swiss control chromosomes" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418799" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "00645" "MUTYH_000045" "g.45798269T>C" "" "{PMID:Russell 2006:16287072}" "" "625A>G (Ile209Val); I209V" "" "Unknown" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000418800" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00645" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Russell 2006:16287072}" "" "692G>A (Arg231His)" "" "Unknown" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000418801" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Russell 2006:16287072}" "" "494A>G (Tyr165Cys); Y165C" "0/200 Swiss control chromosomes" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418802" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Russell 2006:16287072}" "" "494A>G (Tyr165Cys); Y165C" "0/200 Swiss control chromosomes" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418803" "0" "90" "1" "45797374" "45797374" "del" "0" "00645" "MUTYH_000069" "g.45797374del" "" "{PMID:Russell 2006:16287072}" "" "1105del; 1138delC (Ala371ProfsX23); Ala379fx401X" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418804" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Russell 2006:16287072}" "" "494A>G (Tyr165Cys); Y165C" "0/200 Swiss control chromosomes" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418805" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Russell 2006:16287072}" "" "1145G>A Gly382Asp; G382D" "0/200 Swiss control chromosomes" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418806" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Russell 2006:16287072}" "" "1145G>A Gly382Asp; G382D" "0/200 Swiss control chromosomes" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418807" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Russell 2006:16287072}" "" "1145G>A Gly382Asp; G382D" "0/200 Swiss control chromosomes" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418808" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Russell 2006:16287072}" "" "1145G>A Gly382Asp; G382D" "0/200 Swiss control chromosomes" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418809" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "00640" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Lejeune 2006:16941501}" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418810" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Lejeune 2006:16941501}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418811" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "00640" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Lejeune 2006:16941501}" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418812" "0" "70" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Lejeune 2006:16941501}" "" "1185_1186dupGG (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "likely pathogenic" "" "0000418813" "0" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00640" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Lejeune 2006:16941501}" "" "842C>T (Pro281Leu)" "Significance remains to be proved; highly conserved domain; [4Fe-4S] cluster loop (Guan , 1998; Yang , 2001); Polyphen: damaging; not in 50 controls" "Unknown" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000418814" "0" "70" "1" "45797423" "45797423" "dup" "0" "00640" "MUTYH_000065" "g.45797423dup" "" "{PMID:Lejeune 2006:16941501}" "" "1059dupC (Arg354GlnfsX164)" "" "Unknown" "" "" "0" "" "" "g.45331751dup" "" "likely pathogenic" "" "0000418815" "0" "70" "1" "45797924" "45797924" "subst" "4.06964E-6" "00640" "MUTYH_000017" "g.45797924T>C" "" "{PMID:Lejeune 2006:16941501}" "" "805A>G (Met269Val)" "Significance remains to be proved; highly conserved domain; adenine-recognition motif (Guan , 1998; Yang , 2001); Polyphen: not damaging; not in 50 controls" "Unknown" "" "" "0" "" "" "g.45332252T>C" "" "likely pathogenic" "" "0000418816" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Lejeune 2006:16941501}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418817" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Lejeune 2006:16941501}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418818" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Lejeune 2006:16941501}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418819" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Lejeune 2006:16941501}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418820" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Lejeune 2006:16941501}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418821" "2" "50" "1" "45798472" "45798472" "subst" "0" "00640" "MUTYH_000066" "g.45798472T>G" "" "{PMID:Lejeune 2006:16941501}" "" "497A>C (Tyr166Ser)" "Significance remains to be proved; highly conserved domain; pseudo helixhairpin-helix (HhH) motif (Guan , 1998; Yang , 2001); Polyphen: damaging; not in 50 controls" "Unknown" "" "" "0" "" "" "g.45332800T>G" "" "VUS" "" "0000418822" "0" "70" "1" "45797356" "45797356" "subst" "0" "00640" "MUTYH_000071" "g.45797356A>G" "" "{PMID:Lejeune 2006:16941501}" "" "1121T>C (Leu374Pro)" "Significance remains to be proved; highly conserved domain; catalytic core (Guan , 1998; Yang , 2001); Polyphen: damaging; not in 50 controls" "Unknown" "" "" "0" "" "" "g.45331684A>G" "" "likely pathogenic" "" "0000418823" "0" "70" "1" "45797169" "45797169" "subst" "0" "00640" "MUTYH_000067" "g.45797169G>A" "" "{PMID:Lejeune 2006:16941501}" "" "1204C>T (Gln402X)" "" "Unknown" "" "" "0" "" "" "g.45331497G>A" "" "likely pathogenic" "" "0000418824" "0" "70" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Lejeune 2006:16941501}" "" "1185_1186dupGG (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "likely pathogenic" "" "0000418825" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Lejeune 2006:16941501}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418826" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Lejeune 2006:16941501}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418827" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "1145G>A Gly382Asp" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418828" "0" "90" "1" "45796891" "45796894" "del" "0" "02939" "MUTYH_000089" "g.45796891_45796894del" "" "{PMID:Di Gregorio 2006:16890597}" "" "1395_1398del; 1395delGGAA (Glu465AspfsX11)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331219_45331222del" "" "pathogenic" "" "0000418829" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Di Gregorio 2006:16890597}" "" "494A>G (Tyr165Cys)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418830" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Di Gregorio 2006:16890597}" "" "494A>G (Tyr165Cys)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418831" "1" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Di Gregorio 2006:16890597}" "" "1395_1397delGGA (Glu466del); Glu466del" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418832" "2" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Di Gregorio 2006:16890597}" "" "1395_1397delGGA (Glu466del); Glu466del" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418833" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "1145G>A Gly382Asp" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418834" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Di Gregorio 2006:16890597}" "" "1395_1397delGGA (Glu466del); Glu466del" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418835" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Di Gregorio 2006:16890597}" "" "494A>G (Tyr165Cys)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418836" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Di Gregorio 2006:16890597}" "" "494A>G (Tyr165Cys)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418837" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Di Gregorio 2006:16890597}" "" "494A>G (Tyr165Cys)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418838" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Di Gregorio 2006:16890597}" "" "494A>G (Tyr165Cys)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418839" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Di Gregorio 2006:16890597}" "" "1395_1397delGGA (Glu466del); Glu466del" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418840" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "270C>A (Tyr90X)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418841" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "270C>A (Tyr90X)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418842" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Di Gregorio 2006:16890597}" "" "891+3A>C; IVS10+3A>C" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000418843" "1" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Di Gregorio 2006:16890597}" "" "1395_1397delGGA (Glu466del); Glu466del" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418844" "2" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Di Gregorio 2006:16890597}" "" "1395_1397delGGA (Glu466del); Glu466del" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418845" "1" "90" "1" "45798561" "45798573" "del" "0" "02939" "MUTYH_000091" "g.45798561_45798573del" "" "{PMID:Di Gregorio 2006:16890597}" "" "462+19_462+31del; IVS6+19-31del13" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "" "pathogenic" "" "0000418846" "2" "90" "1" "45798561" "45798573" "del" "0" "02939" "MUTYH_000091" "g.45798561_45798573del" "" "{PMID:Di Gregorio 2006:16890597}" "" "462+19_462+31del; IVS6+19-31del13" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "" "pathogenic" "" "0000418847" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Di Gregorio 2006:16890597}" "" "494A>G (Tyr165Cys)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418848" "0" "90" "1" "45798467" "45798467" "subst" "4.06055E-6" "02939" "MUTYH_000040" "g.45798467G>A" "" "{PMID:Di Gregorio 2006:16890597}" "" "502C>T (Arg168Cys)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45332795G>A" "" "pathogenic" "" "0000418849" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "270C>A (Tyr90X); Y190X (?)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418850" "0" "90" "1" "45798489" "45798489" "subst" "0" "02939" "MUTYH_000092" "g.45798489C>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "480G>A (Trp160X)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45332817C>T" "" "pathogenic" "" "0000418851" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "1145G>A Gly382Asp" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418852" "0" "90" "1" "45797184" "45797185" "dup" "0" "02939" "MUTYH_000093" "g.45797184_45797185dup" "" "{PMID:Di Gregorio 2006:16890597}" "" "1188_1189dup; 1187insGC (Pro397ArgfsX42)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331512_45331513dup" "" "pathogenic" "" "0000418853" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Di Gregorio 2006:16890597}" "" "1105del; 1103delC (Ala371ProfsX23)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418854" "0" "90" "1" "45799192" "45799193" "del" "0" "02939" "MUTYH_000027" "g.45799192_45799193del" "" "{PMID:Di Gregorio 2006:16890597}" "" "199_200del; 199GT (Val67LeufsX11)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45333520_45333521del" "" "pathogenic" "" "0000418855" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "1145G>A Gly382Asp" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418856" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Di Gregorio 2006:16890597}" "" "494A>G (Tyr165Cys)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418857" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Di Gregorio 2006:16890597}" "" "1105del; 1103delC (Ala371ProfsX23)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418858" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "1145G>A Gly382Asp" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418859" "0" "90" "1" "45798812" "45798812" "del" "0" "02939" "MUTYH_000061" "g.45798812del" "" "{PMID:Di Gregorio 2006:16890597}" "" "379delC (Gln127ArgfsX5)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45333140del" "" "pathogenic" "" "0000418860" "0" "90" "1" "45798466" "45798466" "subst" "8.12123E-6" "02939" "MUTYH_000041" "g.45798466C>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "503G>A (Arg168His)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45332794C>T" "" "pathogenic" "" "0000418861" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Di Gregorio 2006:16890597}" "" "270C>A (Tyr90X)" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418862" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Di Gregorio 2006:16890597}" "" "891+3A>C; IVS10+3A>C" "In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern)" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000418863" "0" "50" "1" "45798460" "45798460" "subst" "2.03028E-5" "02939" "MUTYH_000103" "g.45798460C>T" "1/446" "{PMID:Kim 2007:17252231}" "" "509G>A (Arg170Gln); R170Q" "One in 223 (143 mulitple adenoma patients and 80 relatives); 0/300 controls" "Germline" "" "" "0" "" "" "g.45332788C>T" "" "VUS" "" "0000418864" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "02939" "MUTYH_000109" "g.45797401G>A" "5/446" "{PMID:Kim 2007:17252231}" "" "1076C>T (Ala359Val); A359V" "Five in 223 (143 mulitple adenoma patients and 80 relatives); 1/300 controls" "Germline" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "VUS" "" "0000418865" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "02939" "MUTYH_000109" "g.45797401G>A" "5/446" "{PMID:Kim 2007:17252231}" "" "1076C>T (Ala359Val); A359V" "One in 300 healthy controls" "Germline" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "VUS" "" "0000418866" "1" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "" "{PMID:Kim 2007:17252231}" "" "G25D" "Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000418867" "1" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "" "{PMID:Kim 2007:17252231}" "" "P18L" "Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000418868" "1" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "" "{PMID:Kim 2007:17252231}" "" "G25D" "Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000418869" "2" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "" "{PMID:Kim 2007:17252231}" "" "G25D" "Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000418870" "1" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "" "{PMID:Kim 2007:17252231}" "" "P18L" "Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000418871" "2" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "" "{PMID:Kim 2007:17252231}" "" "P18L" "Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000418872" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Kim 2007:17252231}" "" "972G>C (Gln324His); Q324H" "Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418873" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Kim 2007:17252231}" "" "972G>C (Gln324His); Q324H" "Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418874" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Kim 2007:17252231}" "" "972G>C (Gln324His); Q324H" "Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418875" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Kim 2007:17252231}" "" "972G>C (Gln324His); Q324H" "Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418876" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Kim 2007:17252231}" "" "972G>C (Gln324His); Q324H" "Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418877" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Kim 2007:17252231}" "" "972G>C (Gln324His); Q324H" "Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418878" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Ponti 2007:17273161}" "" "1145G>A Gly382Asp; G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418879" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Ponti 2007:17273161}" "" "494A>G (Tyr165Cys); Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418880" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Ponti 2007:17273161}" "" "1145G>A Gly382Asp; G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418881" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Ponti 2007:17273161}" "" "494A>G (Tyr165Cys); Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418882" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Ponti 2007:17273161}" "" "1395_1397del (Glu466del); delGGA464" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418883" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Ponti 2007:17273161}" "" "270C>A (Tyr90X); Y90X" "" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000418884" "0" "70" "1" "45797914" "45797914" "subst" "2.44089E-5" "02939" "MUTYH_000191" "g.45797914C>T" "1/124" "{PMID:Kim 2007:17703316}" "" "815G>A (Gly272Glu); G272E" "" "Germline" "" "" "0" "" "" "g.45332242C>T" "" "likely pathogenic" "" "0000418885" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "02939" "MUTYH_000109" "g.45797401G>A" "2/124" "{PMID:Kim 2007:17703316}" "" "1076C>T (Ala359Val); A359V" "" "Germline" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "VUS" "" "0000418886" "0" "50" "1" "45796969" "45796969" "subst" "1.62422E-5" "02939" "MUTYH_000193" "g.45796969T>G" "1/124" "{PMID:Kim 2007:17703316}" "" "1319A>C (Gln440Pro); Q440P" "" "Germline" "" "" "0" "" "" "g.45331297T>G" "" "VUS" "" "0000418887" "0" "70" "1" "45797972" "45797972" "subst" "1.63291E-5" "02939" "MUTYH_000192" "g.45797972G>A" "1/124" "{PMID:Kim 2007:17703316}" "" "757C>T (Gln253X); Q253X" "" "Germline" "" "" "0" "" "" "g.45332300G>A" "" "likely pathogenic" "" "0000418888" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "02939" "MUTYH_000109" "g.45797401G>A" "2/124" "{PMID:Kim 2007:17703316}" "" "1076C>T (Ala359Val); A359V" "" "Germline" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "VUS" "" "0000418889" "0" "70" "1" "45797760" "45797760" "subst" "0.00108835" "02939" "MUTYH_000098" "g.45797760T>C" "1/124" "{PMID:Kim 2007:17703316}" "" "892-2A>G; IVS10-2A>G" "" "Germline" "" "" "0" "" "" "g.45332088T>C" "" "likely pathogenic" "" "0000418890" "1" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "1/124" "{PMID:Kim 2007:17703316}" "" "G25D" "P18L and G25D on same allele (cloning-sequencing analysis)" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000418891" "1" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "1/124" "{PMID:Kim 2007:17703316}" "" "P18L" "P18L and G25D on same allele (cloning-sequencing analysis)" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000418892" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "02939" "MUTYH_000109" "g.45797401G>A" "4/192" "{PMID:Kim 2007:17703316}" "" "1076C>T (Ala359Val); A359V" "" "Germline" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "VUS" "" "0000418893" "1" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "3/192" "{PMID:Kim 2007:17703316}" "" "G25D" "P18L and G25D on same allele (cloning-sequencing analysis)" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000418894" "1" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "3/192" "{PMID:Kim 2007:17703316}" "" "P18L" "P18L and G25D on same allele (cloning-sequencing analysis)" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000418895" "0" "70" "1" "45797972" "45797972" "subst" "1.63291E-5" "02939" "MUTYH_000192" "g.45797972G>A" "1/192" "{PMID:Kim 2007:17703316}" "" "757C>T (Gln253X); Q253X" "" "Germline" "" "" "0" "" "" "g.45332300G>A" "" "likely pathogenic" "" "0000418896" "1" "50" "1" "45797401" "45797401" "subst" "0.000365883" "02939" "MUTYH_000109" "g.45797401G>A" "2/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "1076C>T (Ala359Val); A359V" "Parents consanguineous; glycosylase activity seems not impaired (mouse MUTYH expessed in E. Coli)" "Germline" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "VUS" "" "0000418897" "2" "50" "1" "45797401" "45797401" "subst" "0.000365883" "02939" "MUTYH_000109" "g.45797401G>A" "2/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "1076C>T (Ala359Val); A359V" "Parents consanguineous; glycosylase activity seems not impaired (mouse MUTYH expessed in E. Coli)" "Germline" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "VUS" "" "0000418898" "1" "90" "1" "45797914" "45797914" "subst" "2.44089E-5" "02939" "MUTYH_000191" "g.45797914C>T" "2/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "815G>A (Gly272Glu); G272E" "Parents consanguineous; impaired glycosylase activity (mouse MUTYH expessed in E. Coli)" "Germline" "" "" "0" "" "" "g.45332242C>T" "" "pathogenic" "" "0000418899" "2" "90" "1" "45797914" "45797914" "subst" "2.44089E-5" "02939" "MUTYH_000191" "g.45797914C>T" "2/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "815G>A (Gly272Glu); G272E" "Parents consanguineous; impaired glycosylase activity (mouse MUTYH expessed in E. Coli)" "Germline" "" "" "0" "" "" "g.45332242C>T" "" "pathogenic" "" "0000418900" "0" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "1/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "73G>A (?) G25D" "" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000418901" "0" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "1/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "P18L" "" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000418902" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418903" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "02939" "MUTYH_000085" "g.45796899C>G" "8/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "1389G>C (Thr463Thr)" "" "Germline" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418904" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418905" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418906" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418907" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418908" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418909" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418910" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418911" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418912" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418913" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418914" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418915" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418916" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418917" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418918" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "02939" "MUTYH_000085" "g.45796899C>G" "8/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "1389G>C (Thr463Thr)" "" "Germline" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418919" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418920" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418921" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "02939" "MUTYH_000085" "g.45796899C>G" "8/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "1389G>C (Thr463Thr)" "" "Germline" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418922" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418923" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "9/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "1435-40G>C; IVS15-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418924" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "45/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418925" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "9/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "1435-40G>C; IVS15-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418926" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "9/132" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "1435-40G>C; IVS15-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418927" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "4/1934" "{PMID:Peterlongo 2006:16774938}" "" "494A>G (Tyr165Cys)" "Frequency in 967 controls from New York, Madrid and Milan" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418928" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "12/1934" "{PMID:Peterlongo 2006:16774938}" "" "1145G>A Gly382Asp" "Frequency in 967 controls from New York, Madrid and Milan" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418929" "0" "50" "1" "45806091" "45806091" "subst" "0" "02939" "MUTYH_000083" "g.45806091G>A" "1/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs3219466" "0" "" "" "g.45340419G>A" "" "VUS" "" "0000418930" "0" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "4/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000418931" "0" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "3/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected" "Unknown" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000418932" "0" "50" "1" "45798901" "45798901" "subst" "0" "02939" "MUTYH_000009" "g.45798901C>T" "2/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "346+56G>A" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected" "Unknown" "" "" "0" "" "" "g.45333229C>T" "" "VUS" "" "0000418933" "2" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "18/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "462+35G>A" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected\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." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418934" "1" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "18/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "462+35G>A" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected\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." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418935" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "18/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "462+35G>A" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected\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." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000418936" "0" "50" "1" "45798225" "45798225" "subst" "0.00721521" "02939" "MUTYH_000070" "g.45798225G>T" "1/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "648+21C>A" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected" "Unknown" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000418937" "0" "50" "1" "45797255" "45797255" "subst" "0.0036991" "02939" "MUTYH_000104" "g.45797255G>A" "2/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1145-27C>T" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected" "Unknown" "" "rs3219490" "0" "" "" "g.45331583G>A" "" "VUS" "" "0000418938" "0" "50" "1" "45797040" "45797040" "subst" "1.21825E-5" "02939" "MUTYH_000082" "g.45797040G>A" "1/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1282-34C>T" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected" "Unknown" "" "" "0" "" "" "g.45331368G>A" "" "VUS" "" "0000418939" "1" "50" "1" "45796354" "45796354" "subst" "0" "02939" "MUTYH_000157" "g.45796354G>T" "21/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1435-125C>A" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected" "Unknown" "" "rs3219492" "0" "" "" "g.45330682G>T" "" "VUS" "" "0000418940" "2" "50" "1" "45796354" "45796354" "subst" "0" "02939" "MUTYH_000157" "g.45796354G>T" "21/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1435-125C>A" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected" "Unknown" "" "rs3219492" "0" "" "" "g.45330682G>T" "" "VUS" "" "0000418941" "0" "50" "1" "45796354" "45796354" "subst" "0" "02939" "MUTYH_000157" "g.45796354G>T" "21/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1435-125C>A" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected" "Unknown" "" "rs3219492" "0" "" "" "g.45330682G>T" "" "VUS" "" "0000418942" "1" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "18/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1435-40G>C" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected\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." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418943" "2" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "18/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1435-40G>C" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected\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." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418944" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "18/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1435-40G>C" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected\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." "Unknown" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000418945" "0" "50" "1" "45796257" "45796257" "subst" "0.000544672" "02939" "MUTYH_000080" "g.45796257C>T" "1/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1435-28G>A" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected" "Unknown" "" "" "0" "" "" "g.45330585C>T" "" "VUS" "" "0000418946" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "7/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000418947" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "494A>G (Tyr165Cys)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418948" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "494A>G (Tyr165Cys)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418949" "0" "50" "1" "45798151" "45798151" "subst" "8.13968E-5" "02939" "MUTYH_000047" "g.45798151C>T" "1/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "658G>A (Val220Met)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "" "0" "" "" "g.45332479C>T" "" "VUS" "" "0000418950" "0" "50" "1" "45797506" "45797506" "subst" "0.00014449" "02939" "MUTYH_000044" "g.45797506T>C" "1/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "971A>G (Gln324Arg)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; detected monoallelic only" "Unknown" "" "" "0" "" "" "g.45331834T>C" "" "VUS" "" "0000418951" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "40/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "972G>C (Gln324His)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418952" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "40/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "972G>C (Gln324His)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418953" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "40/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "972G>C (Gln324His)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000418954" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1145G>A Gly382Asp" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418955" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1145G>A Gly382Asp" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418956" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1145G>A Gly382Asp" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418957" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1145G>A Gly382Asp" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418958" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1145G>A Gly382Asp" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418959" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1145G>A Gly382Asp" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418960" "0" "50" "1" "45797157" "45797157" "subst" "0.000573124" "02939" "MUTYH_000141" "g.45797157G>T" "1/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1216C>A (Leu406Met)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid; detected monoallelic only" "Unknown" "" "" "0" "" "" "g.45331485G>T" "" "VUS" "" "0000418961" "0" "50" "1" "45796899" "45796899" "subst" "0.00454804" "02939" "MUTYH_000085" "g.45796899C>G" "1/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1389G>C (Thr463Thr)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000418962" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "1/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1395_1397delGGA (Glu466del)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000418963" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1145G>A Gly382Asp" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418964" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "9/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1502C>T (Ser501Phe)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000418965" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "2/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "494A>G (Tyr165Cys)" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418966" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/160 alleles" "{PMID:Peterlongo 2006:16774938}" "" "1145G>A Gly382Asp" "Frequency in 62 probands New York, 13 Milan, 5 Madrid" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418967" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Bougatef 2008:18425378}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418968" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Bougatef 2008:18425378}" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418969" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Dallosso 2008:18515411}" "" "1145G>A Gly382Asp; G393D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418970" "0" "70" "1" "45798289" "45798289" "subst" "8.12229E-6" "02939" "MUTYH_000184" "g.45798289C>T" "" "{PMID:Dallosso 2008:18515411}" "" "605G>A; 638G>A (Gly202Glu); G213E" "Non-conservative amino acid change; evolutionary conserved amino acid; not in 724 control chromosomes" "Germline" "" "" "0" "" "" "g.45332617C>T" "" "likely pathogenic" "" "0000418971" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Dallosso 2008:18515411}" "" "494A>G (Tyr165Cys); Y176C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418972" "1" "70" "1" "45798246" "45798246" "subst" "4.06266E-6" "02939" "MUTYH_000194" "g.45798246C>T" "" "{PMID:Dallosso 2008:18515411}" "" "648G>A; 681G>A (Val179_Gln216del); (Gln216Gln); Q227" "Aberrant splicing; RT-PCR: skip exon 8; not in 722 control chromosomes" "Germline" "" "" "0" "" "" "g.45332574C>T" "" "likely pathogenic" "" "0000418973" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Dallosso 2008:18515411}" "" "494A>G (Tyr165Cys); Y176C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418974" "1" "70" "1" "45798246" "45798246" "subst" "4.06266E-6" "02939" "MUTYH_000194" "g.45798246C>T" "" "{PMID:Dallosso 2008:18515411}" "" "648G>A; 681G>A (Val179_Gln216del); (Gln216Gln); Q227" "Aberrant splicing; RT-PCR: skip exon 8; not in 722 control chromosomes" "Germline" "" "" "0" "" "" "g.45332574C>T" "" "likely pathogenic" "" "0000418975" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Dallosso 2008:18515411}" "" "1145G>A Gly382Asp; G393D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418976" "0" "70" "1" "45798138" "45798138" "subst" "0" "02939" "MUTYH_000195" "g.45798138T>C" "" "{PMID:Dallosso 2008:18515411}" "" "671A>G; 704A>G (Asn224Ser); N235S" "Semi-conservative amino acid change; evolutionary conserved amino acid; not in 722 control chromosomes" "Germline" "" "" "0" "" "" "g.45332466T>C" "" "likely pathogenic" "" "0000418977" "0" "70" "1" "45797423" "45797423" "del" "0" "02939" "MUTYH_000196" "g.45797423del" "" "{PMID:Dallosso 2008:18515411}" "" "1059del; 1092delC (Arg354GlyfsX40)" "" "Germline" "" "" "0" "" "" "g.45331751del" "" "likely pathogenic" "" "0000418978" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Dallosso 2008:18515411}" "" "1145G>A Gly382Asp; G393D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418979" "0" "50" "1" "45797157" "45797157" "subst" "0.000573124" "02939" "MUTYH_000141" "g.45797157G>T" "" "{PMID:Dallosso 2008:18515411}" "" "1216C>A (leu406Met); L417M" "" "Germline" "" "" "0" "" "" "g.45331485G>T" "" "VUS" "" "0000418980" "0" "50" "1" "45796900" "45796900" "subst" "1.62429E-5" "02939" "MUTYH_000197" "g.45796900G>A" "" "{PMID:Dallosso 2008:18515411}" "" "1388C>T; 1421C>T (Thr463Met); T474M" "Semi-conservative amino acid change; semi evolutionary conserved amino acid; not in 724 control chromosomes" "Germline" "" "" "0" "" "" "g.45331228G>A" "" "VUS" "" "0000418981" "0" "90" "1" "45796186" "45796186" "subst" "0" "02939" "MUTYH_000198" "g.45796186A>G" "" "{PMID:Dallosso 2008:18515411}" "" "1476+2T>C; 1509+2T>C (Val479_Met492del)" "Alamut: skip exon 15 very likely" "Germline" "" "" "0" "" "" "g.45330514A>G" "" "pathogenic" "" "0000418982" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Dallosso 2008:18515411}" "" "494A>G (Tyr165Cys); Y176C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418983" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Dallosso 2008:18515411}" "" "1105del; 1138delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418984" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Dallosso 2008:18515411}" "" "494A>G (Tyr165Cys); Y176C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418985" "1" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Dallosso 2008:18515411}" "" "1105del; 1138delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418986" "2" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Dallosso 2008:18515411}" "" "1105del; 1138delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000418987" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418988" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418989" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418990" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000418991" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418992" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418993" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418994" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418995" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418996" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418997" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418998" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000418999" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419000" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "Only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419001" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "Only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419002" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "Only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419003" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419004" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419005" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419006" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419007" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419008" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419009" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "494A>G (Tyr165Cys); Y165C" "8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419010" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419011" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419012" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419013" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419014" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419015" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419016" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419017" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419018" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419019" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419020" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419021" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419022" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419023" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419024" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419025" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419026" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419027" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "V22M" "V22M in 2/29 monoallelic Y165C or G382D carrying patients; 0/21 mono allelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419028" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419029" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419030" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419031" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419032" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419033" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419034" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419035" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "972G>C (Gln324His); Q324H" "Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419036" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419037" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2004:15523092}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419038" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported; O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419039" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "21/1238 (1.70%) patients heterozygous G382D; 17/1255 (1.35%) controls; only coding region variants reported; O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419040" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419041" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419042" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1145G>A Gly382Asp; G382D" "O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419043" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419044" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02939" "MUTYH_000072" "g.45797348G>A" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1129C>T (Gln377X); Q377X" "O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers" "Germline" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000419045" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "494A>G (Tyr165Cys); Y165C" "O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419046" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Croitoru 2007:17219385}" "" "1145G>A Gly382Asp; G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419047" "0" "90" "1" "45796974" "45796974" "del" "0" "02939" "MUTYH_000199" "g.45796974del" "" "{PMID:Croitoru 2007:17219385}" "" "1314delA (Tyr439IlefsX14); V452X" "" "Germline" "" "" "0" "" "" "g.45331302del" "" "pathogenic" "" "0000419048" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1105del; 1103delC (Ala371ProfsX23)" "O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419049" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "270C>A (Tyr90X); Y90X" "" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000419050" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Croitoru 2007:17219385}" "" "1105del; 1103delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419051" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02939" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Croitoru 2007:17219385}" "" "842C>T (Pro281Leu); P281L" "SIFT: not tolerated; conserved in mouse, rat, yeast, bacteria, fungus, plants; O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000419052" "1" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Croitoru 2007:17219385}" "" "V22M" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419053" "2" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Croitoru 2007:17219385}" "" "V22M" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419054" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Croitoru 2007:17219385}" "" "V22M" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419055" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Croitoru 2007:17219385}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419056" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Croitoru 2007:17219385}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419057" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Croitoru 2007:17219385}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419058" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Croitoru 2007:17219385}" "" "494A>G (Tyr165Cys); Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419059" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Croitoru 2007:17219385}" "" "494A>G (Tyr165Cys); Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419060" "1" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1105del; 1103delC (Ala371ProfsX23)" "O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419061" "2" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Croitoru 2007:17219385}; {PMID:O Shea 2008:18564191}" "" "1105del; 1103delC (Ala371ProfsX23)" "O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419062" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Croitoru 2007:17219385}" "" "1105del; 1103delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419063" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Croitoru 2007:17219385}" "" "270C>A (Tyr90X); Y90X" "" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000419064" "0" "50" "1" "45805624" "45805624" "subst" "0.00367812" "02939" "MUTYH_000200" "g.45805624G>A" "1/46 alleles" "{PMID:Goto 2008:18776649}" "" "" "Beta transcript: NM_001048174.1:c.-60C>T (ex1) ; Gamma: NM_001048173.1:c.-7+24C>T (IVS1+24C>T); not on putative TF binding seq (www.genomatix.de/matinspector.html). Contains GAGA box seq in opposite orientation; 301 bp upstream of initiation codon TOE1" "Unknown" "" "" "0" "" "" "g.45339952G>A" "" "VUS" "" "0000419065" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "7/46 alleles" "{PMID:Goto 2008:18776649}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419066" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "22/46 alleles" "{PMID:Goto 2008:18776649}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419067" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "22/46 alleles" "{PMID:Goto 2008:18776649}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419068" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "22/46 alleles" "{PMID:Goto 2008:18776649}" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419069" "0" "90" "1" "45797188" "45797189" "dup" "0" "02939" "MUTYH_000078" "g.45797188_45797189dup" "1/500 alleles" "Laarabi, 2009, Revue d’Épidemiologie et de Sante Publique; doi:10.1016/j.respe.2009.02.125; http://www.em-consulte.com/showarticlefile/211658/main.pdf" "" "1185_1186dup; 1186_1187insGG (Glu396GlyfsX43)" "estimated on basis of allele frequencies of three mutations, prevalence MAP in same order of magnitude Moroccans, as compared to Europeans, ~1/19000" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419070" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/800 alleles" "Laarabi, 2009, Revue d’Épidemiologie et de Sante Publique; doi:10.1016/j.respe.2009.02.125; http://www.em-consulte.com/showarticlefile/211658/main.pdf" "" "494A>G (Tyr165Cys); Y165C" "estimated on basis of allele frequencies of three mutations, prevalence MAP in same order of magnitude Moroccans, as compared to Europeans, ~1/19000" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419071" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "3/800 alleles" "Laarabi, 2009, Revue d’Épidemiologie et de Sante Publique; doi:10.1016/j.respe.2009.02.125; http://www.em-consulte.com/showarticlefile/211658/main.pdf" "" "1145G>A Gly382Asp; G382D" "estimated on basis of allele frequencies of three mutations, prevalence MAP in same order of magnitude Moroccans, as compared to Europeans, ~1/19000" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419072" "1" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "6/276 alleles" "{PMID:Chen 2008:18811933}" "" "" "c.53C>T+c.74G>A on same haplotype; c.53C>T+c.74G>A (but not one of these variants alone) localizes MUTYH protein partly to nucleus, partly to mitochondria in Cos cells; wild-type or one variant: only mitochondria. In/near MTS" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000419073" "1" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "6/276 alleles" "{PMID:Chen 2008:18811933}" "" "" "c.53C>T+c.74G>A on same haplotype; c.53C>T+c.74G>A (but not one of these variants alone) localizes MUTYH protein partly to nucleus, partly to mitochondria in Cos cells; wild-type or one variant: only mitochondria. In/near MTS" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000419074" "1" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "3/686 alleles" "{PMID:Chen 2008:18811933}" "" "" "c.53C>T+c.74G>A on same haplotype; c.53C>T+c.74G>A (but not one of these variants alone) localizes MUTYH protein partly to nucleus, partly to mitochondria in Cos cells; wild-type or one variant: only mitochondria. In/near MTS" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000419075" "1" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "3/686 alleles" "{PMID:Chen 2008:18811933}" "" "" "c.53C>T+c.74G>A on same haplotype; c.53C>T+c.74G>A (but not one of these variants alone) localizes MUTYH protein partly to nucleus, partly to mitochondria in Cos cells; wild-type or one variant: only mitochondria. In/near MTS" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000419076" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Cattaneo 2008:18091433}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419077" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Cattaneo 2008:18091433}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419078" "0" "90" "1" "45798467" "45798467" "subst" "4.06055E-6" "00640" "MUTYH_000040" "g.45798467G>A" "" "{PMID:Cattaneo 2008:18091433}" "" "502C>T (Arg168Cys)" "" "Germline" "" "" "0" "" "" "g.45332795G>A" "" "pathogenic" "" "0000419079" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "00640" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Cattaneo 2008:18091433}" "" "270C>A (Tyr90X)" "" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000419080" "0" "90" "1" "45798490" "45798490" "subst" "0" "00640" "MUTYH_000212" "g.45798490C>T" "" "{PMID:Cattaneo 2008:18091433}" "" "479G>A Trp160X" "" "Germline" "" "" "0" "" "" "g.45332818C>T" "" "pathogenic" "" "0000419081" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cattaneo 2008:18091433}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419082" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cattaneo 2008:18091433}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419083" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cattaneo 2008:18091433}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419084" "1" "90" "1" "45797507" "45797507" "subst" "6.56846E-5" "00640" "MUTYH_000062" "g.45797507G>A" "" "{PMID:Cattaneo 2008:18091433}" "" "970C>T (Gln324X)" "" "Germline" "" "" "0" "" "" "g.45331835G>A" "" "pathogenic" "" "0000419085" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Cattaneo 2008:18091433}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419086" "0" "90" "1" "45798458" "45798458" "subst" "1.21817E-5" "00640" "MUTYH_000190" "g.45798458G>A" "" "{PMID:Cattaneo 2008:18091433}" "" "511C>T (Arg171Trp); R171W" "" "Germline" "" "" "0" "" "" "g.45332786G>A" "" "pathogenic" "" "0000419087" "0" "50" "1" "45797378" "45797378" "subst" "8.13517E-6" "01065" "MUTYH_000213" "g.45797378C>A" "" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "1099G>T (Gly367Trp)" "heterozygous variant found in association with a deleterious APC mutation (c.1959delG) on the same patient" "Unknown" "" "" "0" "" "" "g.45331706C>A" "" "VUS" "" "0000419088" "0" "50" "1" "45796256" "45796256" "subst" "3.61827E-5" "01065" "MUTYH_000214" "g.45796256G>A" "" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "1435-27C>T" "Alamut: no major splice site change predicted" "Unknown" "" "" "0" "" "" "g.45330584G>A" "" "VUS" "" "0000419089" "0" "50" "1" "45796257" "45796257" "subst" "0.000544672" "01065" "MUTYH_000080" "g.45796257C>T" "" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "1435-28G>A" "Alamut: no major splice site change predicted" "Unknown" "" "" "0" "" "" "g.45330585C>T" "" "VUS" "" "0000419090" "0" "50" "1" "45795061" "45795061" "subst" "8.1217E-5" "01065" "MUTYH_000215" "g.45795061G>A" "" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "1525C>T (Arg509Cys)" "" "Unknown" "" "" "0" "" "" "g.45329389G>A" "" "VUS" "" "0000419091" "1" "50" "1" "45800167" "45800167" "subst" "0.00103553" "00640" "MUTYH_000024" "g.45800167G>A" "10/202" "{PMID:Zhang 2006:16929514}" "" "" "variants in cis" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000419092" "1" "50" "1" "45800146" "45800146" "subst" "0.00103547" "00640" "MUTYH_000026" "g.45800146C>T" "10/202" "{PMID:Zhang 2006:16929514}" "" "" "" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000419093" "1" "50" "1" "45800167" "45800167" "subst" "0.00103553" "00640" "MUTYH_000024" "g.45800167G>A" "3/258" "{PMID:Zhang 2006:16929514}" "" "" "" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000419094" "1" "50" "1" "45800146" "45800146" "subst" "0.00103547" "00640" "MUTYH_000026" "g.45800146C>T" "3/258" "{PMID:Zhang 2006:16929514}" "" "" "" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000419095" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "4/62" "{PMID:Lefevre 2006:17122612}" "" "Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419096" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "4/62" "{PMID:Lefevre 2006:17122612}" "" "Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419097" "1" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "2/64" "{PMID:Lefevre 2006:17122612}" "" "1187insGG" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419098" "2" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "2/64" "{PMID:Lefevre 2006:17122612}" "" "1187insGG" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419099" "1" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "2/64" "{PMID:Lefevre 2006:17122612}" "" "1103delC" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419100" "2" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "2/64" "{PMID:Lefevre 2006:17122612}" "" "1103delC" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419101" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "4/62" "{PMID:Lefevre 2006:17122612}" "" "Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419102" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "4/62" "{PMID:Lefevre 2006:17122612}" "" "Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419103" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "2/64" "{PMID:Lefevre 2006:17122612}" "" "1145G>A Gly382Asp; G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419104" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "2/64" "{PMID:Lefevre 2006:17122612}" "" "1145G>A Gly382Asp; G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419105" "1" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "2/64" "{PMID:Lefevre 2006:17122612}" "" "1187insGG" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419106" "2" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "2/64" "{PMID:Lefevre 2006:17122612}" "" "1187insGG" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419107" "0" "90" "1" "45798458" "45798458" "subst" "1.21817E-5" "00640" "MUTYH_000190" "g.45798458G>A" "0/200 controls" "{PMID:Cattaneo 2008:18091433}" "" "511C>T (Arg171Trp); R171W" "" "Germline" "" "" "0" "" "" "g.45332786G>A" "" "pathogenic" "" "0000419108" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "1/1290" "{PMID:Cattaneo 2008:18091433}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419109" "0" "90" "1" "45797374" "45797374" "del" "0" "00640" "MUTYH_000069" "g.45797374del" "0/1290" "{PMID:Cattaneo 2008:18091433}" "" "1103delC" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419110" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "3/1290" "{PMID:Cattaneo 2008:18091433}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419111" "0" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "1/1290" "{PMID:Cattaneo 2008:18091433}" "" "1187insGG" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419112" "0" "90" "1" "45796895" "45796897" "del" "0" "00640" "MUTYH_000086" "g.45796895_45796897del" "0/1290" "{PMID:Cattaneo 2008:18091433}" "" "1395delGGA (exon 14)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419113" "0" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Bougatef 2007:18022921}" "" "1186_1187insGG E396fsX41" "" "Somatic" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419114" "0" "90" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Bougatef 2007:18022921}" "" "1186_1187insGG E396fsX41" "" "Somatic" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419115" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "0/96" "{PMID:Bougatef 2007:18022921}" "" "494A>G Y165C" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419116" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "0/96" "{PMID:Bougatef 2007:18022921}" "" "1145G>A G382D" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419117" "1" "50" "1" "45797428" "45797428" "subst" "2.03772E-5" "00644" "MUTYH_000216" "g.45797428C>T" "" "Genetique Moleculaires, CHRU, Lille, FR" "" "1049G>A Arg350His" "No splice defect detected by RT-PCR sequence" "Germline" "" "" "0" "" "" "g.45331756C>T" "" "VUS" "" "0000419118" "1" "50" "1" "45797701" "45797701" "subst" "4.06154E-6" "00644" "MUTYH_000217" "g.45797701C>T" "" "Genetique Moleculaires, CHRU, Lille, FR" "" "949G>A Glu317Lys" "No splice defect detected by RT-PCR-sequence" "Unknown" "" "" "0" "" "" "g.45332029C>T" "" "VUS" "" "0000419119" "1" "50" "1" "45797290" "45797291" "del" "3.26752E-5" "00644" "MUTYH_000218" "g.45797290_45797291del" "" "Genetique Moleculaires, CHRU, Lille, FR" "" "1144+42_1144+43del; 1186+42_1186+43delAA" "No splice defect detected by RT-PCR and sequencing" "Germline" "" "" "0" "" "" "g.45331618_45331619del" "" "VUS" "" "0000419120" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00644" "MUTYH_000012" "g.45798475T>C" "" "Genetique Moleculaires, CHRU, Lille, FR" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419121" "2" "90" "1" "45797906" "45797907" "del" "0" "00644" "MUTYH_000134" "g.45797906_45797907del" "" "Genetique Moleculaires, CHRU, Lille, FR" "" "822_823del; 864_865delAG (Cys276TyrfsX38)" "" "Germline" "" "" "0" "" "" "g.45332234_45332235del" "" "pathogenic" "" "0000419122" "1" "90" "1" "45797465" "45797467" "delins" "0" "00644" "MUTYH_000220" "g.45797465_45797467delinsCTCC" "" "Genetique Moleculaires, CHRU, Lille, FR" "" "1010_1012delinsGGAG; 1052_1054delAGAinsGGAG (Gln337ArgfsX181)" "" "Germline" "" "" "0" "" "" "g.45331793_45331795delinsCTCC" "" "pathogenic" "" "0000419123" "2" "90" "1" "45797188" "45797189" "dup" "0" "00644" "MUTYH_000078" "g.45797188_45797189dup" "" "Genetique Moleculaires, CHRU, Lille, FR" "" "1185_1186dup; 1227_1228dupGG (Glu396GlyfsX43)" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419124" "3" "90" "1" "45798769" "45798769" "subst" "0" "00644" "MUTYH_000222" "g.45798769C>T" "" "Genetique Moleculaires, CHRU, Lille, FR" "" "420G>A (Val116GlufsX98)" "exclusion of exon 5 (detected by RT-PCR and sequencing) Alamut: affects splice donor site of intron 5." "Germline" "" "" "0" "" "" "g.45333097C>T" "" "pathogenic" "" "0000419125" "1" "50" "1" "45797114" "45797114" "subst" "4.0622E-5" "00644" "MUTYH_000223" "g.45797114G>A" "" "Genetique Moleculaires, CHRU, Lille, FR" "" "1259C>T Thr420Met" "No splice defect detected by RT-PCR and sequencing; patient also carrier of deleterious APC gene variant c.1409-1G>C" "Germline" "" "" "0" "" "" "g.45331442G>A" "" "VUS" "" "0000419126" "0" "90" "1" "45805890" "45805890" "subst" "0" "01067" "MUTYH_000224" "g.45805890C>T" "" "Redeker (unpublished); AMC, Amsterdam, NL" "" "" "Alamut: affects donor splice site intron 1; skip exon 1 very likely; first ATG of alpha transcript in exon 1; two alternative ATG codons in exon 2 (beta + gamma transcripts) and 4 (beta4 + gamma4); effect on alpha transript difficult to predict." "Unknown" "" "" "0" "" "" "g.45340218C>T" "" "pathogenic" "" "0000419127" "0" "70" "1" "45797216" "45797216" "subst" "0" "01067" "MUTYH_000226" "g.45797216C>A" "" "Redeker (unpublished); AMC, Amsterdam, NL" "" "1157G>T; NM_012222.2: 1190G>T (Gly386Val); NP_036354.1: Gly397Val" "" "Unknown" "" "" "0" "" "" "g.45331544C>A" "" "likely pathogenic" "" "0000419128" "0" "70" "1" "45798613" "45798613" "subst" "8.56437E-5" "01067" "MUTYH_000225" "g.45798613C>G" "" "Redeker (unpublished); AMC, Amsterdam, NL" "" "439G>C; NM_012222.2:472G>C (Asp147His); NP_036354.1: Asp158His" "" "Unknown" "" "" "0" "" "" "g.45332941C>G" "" "likely pathogenic" "" "0000419129" "0" "70" "1" "45797201" "45797201" "subst" "7.32965E-5" "01066" "MUTYH_000077" "g.45797201G>A" "1/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1172C>T (Pro391Leu)" "" "Unknown" "" "" "0" "" "" "g.45331529G>A" "" "likely pathogenic" "" "0000419130" "0" "50" "1" "45798901" "45798901" "subst" "0" "01066" "MUTYH_000009" "g.45798901C>T" "1/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "346+56G>A" "" "Unknown" "" "" "0" "" "" "g.45333229C>T" "" "VUS" "" "0000419131" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01066" "MUTYH_000012" "g.45798475T>C" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419132" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01066" "MUTYH_000075" "g.45797228C>T" "3/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419133" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01066" "MUTYH_000012" "g.45798475T>C" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419134" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01066" "MUTYH_000012" "g.45798475T>C" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419135" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01066" "MUTYH_000012" "g.45798475T>C" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419136" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419137" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01066" "MUTYH_000012" "g.45798475T>C" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419138" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "01066" "MUTYH_000051" "g.45798117C>T" "1/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "692G>A (Arg231His)" "" "Unknown" "" "" "0" "" "" "g.45332445C>T" "" "pathogenic" "" "0000419139" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "01066" "MUTYH_000005" "g.45800156C>T" "15/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419140" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01066" "MUTYH_000075" "g.45797228C>T" "3/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419141" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419142" "0" "90" "1" "45796895" "45796897" "del" "0" "01066" "MUTYH_000086" "g.45796895_45796897del" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419143" "2" "90" "1" "45796895" "45796897" "del" "0" "01066" "MUTYH_000086" "g.45796895_45796897del" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419144" "1" "90" "1" "45796895" "45796897" "del" "0" "01066" "MUTYH_000086" "g.45796895_45796897del" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419145" "2" "90" "1" "45796895" "45796897" "del" "0" "01066" "MUTYH_000086" "g.45796895_45796897del" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419146" "1" "90" "1" "45796895" "45796897" "del" "0" "01066" "MUTYH_000086" "g.45796895_45796897del" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1395_1397del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419147" "0" "50" "1" "45797324" "45797324" "subst" "0.000110063" "01066" "MUTYH_000238" "g.45797324T>A" "1/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1144+9A>T" "" "Unknown" "" "" "0" "" "" "g.45331652T>A" "" "VUS" "" "0000419148" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "01066" "MUTYH_000005" "g.45800156C>T" "15/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419149" "0" "70" "1" "45797846" "45797846" "subst" "0.000455003" "01066" "MUTYH_000019" "g.45797846G>A" "1/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "883C>T (Arg295Cys)" "" "Unknown" "" "" "0" "" "" "g.45332174G>A" "" "likely pathogenic" "" "0000419150" "0" "50" "1" "45798225" "45798225" "subst" "0.000292673" "01066" "MUTYH_000239" "g.45798225G>C" "" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "AlaMut analysis of the mutation not conclusive; the patient is APC mut. negative" "Unknown" "" "" "0" "" "" "g.45332553G>C" "" "VUS" "" "0000419151" "0" "50" "1" "45798966" "45798966" "subst" "4.06286E-6" "01066" "MUTYH_000240" "g.45798966C>T" "1/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "337G>A (Ala113Thr)" "" "Unknown" "" "" "0" "" "" "g.45333294C>T" "" "VUS" "" "0000419152" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419153" "21" "90" "1" "45798561" "45798573" "del" "0" "00643" "MUTYH_000091" "g.45798561_45798573del" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "462+19_462+31del; 504+19_504+31del13" "aberrant splicing" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "" "pathogenic" "" "0000419154" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00579" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1172C>T (Pro391Leu)" "" "Unknown" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419155" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00579" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1172C>T (Pro391Leu)" "" "Unknown" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419156" "1" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00579" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1172C>T (Pro391Leu)" "" "Unknown" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419157" "1" "50" "1" "45797174" "45797174" "subst" "0" "00579" "MUTYH_000079" "g.45797174T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1199A>G (Gln400Arg)" "" "Unknown" "" "" "0" "" "" "g.45331502T>C" "" "VUS" "" "0000419158" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00579" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419159" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00579" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419160" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419161" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419162" "2" "90" "1" "45797374" "45797374" "del" "0" "00579" "MUTYH_000069" "g.45797374del" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419163" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00579" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419164" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419165" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419166" "0" "50" "1" "45798510" "45798510" "subst" "0.00123864" "00579" "MUTYH_000242" "g.45798510T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "463-4A>G" "no effect splice prediction" "Unknown" "" "" "0" "" "" "g.45332838T>C" "" "VUS" "" "0000419167" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419168" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419169" "0" "50" "1" "45799108" "45799108" "subst" "3.65473E-5" "00579" "MUTYH_000008" "g.45799108G>A" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "283C>T (Arg95Trp)" "" "Unknown" "" "" "0" "" "" "g.45333436G>A" "" "VUS" "" "0000419170" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01065" "MUTYH_000075" "g.45797228C>T" "" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419171" "0" "50" "1" "45798112" "45798112" "subst" "8.16767E-6" "01065" "MUTYH_000243" "g.45798112G>C" "" "Laboratoire d oncogenetique, APHP-GHPS, Paris, FR" "" "697C>G (Arg233Gly)" "" "Unknown" "" "" "0" "" "" "g.45332440G>C" "" "VUS" "" "0000419172" "3" "90" "1" "45796895" "45796897" "del" "0" "01067" "MUTYH_000086" "g.45796895_45796897del" "" "Redeker (unpublished); AMC, Amsterdam, NL" "" "" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419173" "0" "50" "1" "45806053" "45806053" "subst" "0" "01066" "MUTYH_000002" "g.45806053G>A" "6/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Unknown" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419174" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "01066" "MUTYH_000005" "g.45800156C>T" "15/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419175" "0" "50" "1" "45799121" "45799121" "subst" "0.00142938" "01066" "MUTYH_000031" "g.45799121G>A" "1/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "270C>T (=); (Tyr90Tyr)" "" "Unknown" "" "" "0" "" "" "g.45333449G>A" "" "VUS" "" "0000419176" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419177" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "01066" "MUTYH_000094" "g.45795084G>A" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000419178" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419179" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419180" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "01066" "MUTYH_000094" "g.45795084G>A" "5/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1502C>T (Ser501Phe)" "" "Unknown" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000419181" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419182" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419183" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419184" "0" "90" "1" "45797374" "45797374" "del" "0" "00585" "MUTYH_000069" "g.45797374del" "1/182" "Medical Genetics, UZ Gent, Gent, BE" "" "1105del (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419185" "0" "50" "1" "45797720" "45797720" "subst" "1.21836E-5" "00585" "MUTYH_000247" "g.45797720C>T" "1/182" "Medical Genetics, UZ Gent, Gent, BE" "" "930G>A (Ser310Ser)" "This variant was found in a patient heterozygote for 2 deleterious mutations (c.1147del and p.Gly396Asp)" "Unknown" "" "" "0" "" "" "g.45332048C>T" "" "VUS" "" "0000419186" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00585" "MUTYH_000075" "g.45797228C>T" "2/182" "Medical Genetics, UZ Gent, Gent, BE" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419187" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00585" "MUTYH_000075" "g.45797228C>T" "2/182" "Medical Genetics, UZ Gent, Gent, BE" "" "1145G>A (Gly382Asp)" "by sequencing the complete coding region, no other MutYH mutation identified" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419188" "0" "70" "1" "45798138" "45798138" "subst" "0" "00585" "MUTYH_000195" "g.45798138T>C" "2/182" "Medical Genetics, UZ Gent, Gent, BE" "" "671A>G (Asn224Ser)" "AlignGVGD c55, SIFT 0.00, PolyPhen probably damaging" "Germline" "" "" "0" "" "" "g.45332466T>C" "" "likely pathogenic" "" "0000419189" "0" "90" "1" "45797188" "45797189" "dup" "0" "00585" "MUTYH_000078" "g.45797188_45797189dup" "1/182" "Medical Genetics, UZ Gent, Gent, BE" "" "1185_1186dup (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419190" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00585" "MUTYH_000051" "g.45798117C>T" "1/182" "Medical Genetics, UZ Gent, Gent, BE" "" "692G>A (Arg231His)" "AlignGVGD c25, SIFT 0.00, PolyPhen probably damaging" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419191" "0" "70" "1" "45798138" "45798138" "subst" "0" "00585" "MUTYH_000195" "g.45798138T>C" "2/182" "Medical Genetics, UZ Gent, Gent, BE" "" "671A>G (Asn224Ser)" "AlignGVGD c55, SIFT 0.00, PolyPhen probably damaging" "Germline" "" "" "0" "" "" "g.45332466T>C" "" "likely pathogenic" "" "0000419192" "0" "50" "1" "45798129" "45798129" "subst" "2.85074E-5" "00585" "MUTYH_000166" "g.45798129C>T" "1/182" "Medical Genetics, UZ Gent, Gent, BE" "" "680G>A (Arg227Gln)" "AlignGVGD c35, SIFT 0.00, PolyPhen possible damaging" "Germline" "" "" "0" "" "" "g.45332457C>T" "" "VUS" "" "0000419193" "0" "50" "1" "45796889" "45796889" "subst" "0" "00585" "MUTYH_000248" "g.45796889A>T" "1/182" "Medical Genetics, UZ Gent, Gent, BE" "" "1399T>A (Phe467Ile)" "AlignGVGD c0, SIFT 0.04, PolyPhen possible damaging" "Germline" "" "" "0" "" "" "g.45331217A>T" "" "VUS" "" "0000419194" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01071" "MUTYH_000075" "g.45797228C>T" "" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419195" "1" "90" "1" "45797114" "45797128" "del" "0" "01071" "MUTYH_000249" "g.45797114_45797128del" "" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "1247_1261del (Pro416_Thr420del)" "" "Unknown" "" "" "0" "" "" "g.45331442_45331456del" "" "pathogenic" "" "0000419196" "0" "50" "1" "45798778" "45798778" "subst" "0" "01071" "MUTYH_000250" "g.45798778T>G" "" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "411A>C (Gly137Gly)" "" "Unknown" "" "" "0" "" "" "g.45333106T>G" "" "VUS" "" "0000419197" "0" "50" "1" "45798271" "45798271" "subst" "0" "01071" "MUTYH_000251" "g.45798271G>A" "" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "623C>T (Ala208Val)" "" "Unknown" "" "" "0" "" "" "g.45332599G>A" "" "VUS" "" "0000419198" "3" "90" "1" "45796895" "45796897" "del" "0" "00154" "MUTYH_000086" "g.45796895_45796897del" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "1437_1439del, 1434_1436del (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419199" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419200" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419201" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419202" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419203" "3" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419204" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419205" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419206" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419207" "0" "50" "1" "45798225" "45798225" "subst" "0.00721521" "00154" "MUTYH_000070" "g.45798225G>T" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "648+21C>A" "" "Unknown" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000419208" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419209" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00154" "MUTYH_000063" "g.45797505C>G" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419210" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "00154" "MUTYH_000005" "g.45800156C>T" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419211" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "00154" "MUTYH_000005" "g.45800156C>T" "" "Clinical Genetics, Karolinska University Hospital, Stockholm, SE" "" "" "" "Unknown" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419212" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00643" "MUTYH_000012" "g.45798475T>C" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419213" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00643" "MUTYH_000012" "g.45798475T>C" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419214" "1" "90" "1" "45798561" "45798573" "del" "0" "00643" "MUTYH_000091" "g.45798561_45798573del" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "462+19_462+31del13" "exon 6 skipping" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "" "pathogenic" "" "0000419215" "2" "90" "1" "45796895" "45796897" "del" "0" "00643" "MUTYH_000086" "g.45796895_45796897del" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "1395_1397del (Glu466del)" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419216" "0" "90" "1" "45798561" "45798573" "del" "0" "00643" "MUTYH_000091" "g.45798561_45798573del" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "462+19_462+31del13" "" "Unknown" "" "" "0" "" "" "g.45332889_45332901del" "" "pathogenic" "" "0000419218" "1" "90" "1" "45798561" "45798573" "del" "0" "00643" "MUTYH_000091" "g.45798561_45798573del" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "462+19_504+31del13" "exon 6 skipping" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "" "pathogenic" "" "0000419219" "2" "90" "1" "45798561" "45798573" "del" "0" "00643" "MUTYH_000091" "g.45798561_45798573del" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "462+19_504+31del13" "exon 6 skipping" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "" "pathogenic" "" "0000419220" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "00643" "MUTYH_000063" "g.45797505C>G" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "462+19_504+31del13 (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419221" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "00643" "MUTYH_000063" "g.45797505C>G" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "462+19_504+31del13 (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419236" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00643" "MUTYH_000075" "g.45797228C>T" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419237" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00643" "MUTYH_000063" "g.45797505C>G" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419238" "0" "70" "1" "45798773" "45798778" "dup" "0" "00643" "MUTYH_000037" "g.45798773_45798778dup" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "411_416dup; 411dupATGGAT (Trp138_Met139insIleTrp)" "" "Germline" "" "" "0" "" "" "g.45333101_45333106dup" "" "likely pathogenic" "" "0000419239" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00643" "MUTYH_000063" "g.45797505C>G" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419241" "1" "50" "1" "45798269" "45798269" "subst" "0.000215279" "00643" "MUTYH_000045" "g.45798269T>C" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "625A>G (Ile209Val)" "" "Germline" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000419242" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "00643" "MUTYH_000063" "g.45797505C>G" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419243" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "00643" "MUTYH_000063" "g.45797505C>G" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419248" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00643" "MUTYH_000075" "g.45797228C>T" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419249" "0" "70" "1" "45797507" "45797507" "subst" "6.56846E-5" "00643" "MUTYH_000062" "g.45797507G>A" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "970C>T (Gln324X)" "" "Germline" "" "" "0" "" "" "g.45331835G>A" "" "likely pathogenic" "" "0000419250" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "00643" "MUTYH_000094" "g.45795084G>A" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "1502C>T (Ser501Phe)" "" "Germline" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000419251" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00643" "MUTYH_000063" "g.45797505C>G" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419252" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00643" "MUTYH_000063" "g.45797505C>G" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419253" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "00643" "MUTYH_000005" "g.45800156C>T" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "(Val22Met)" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419256" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "00643" "MUTYH_000005" "g.45800156C>T" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "(Val22Met)" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419257" "0" "90" "1" "45796895" "45796897" "del" "0" "00643" "MUTYH_000086" "g.45796895_45796897del" "" "Molecular Diagnostics, NSCR Demokritos, Athens, GR" "" "1395_1397del (Glu466del)" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419258" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01070" "MUTYH_000075" "g.45797228C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419259" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01070" "MUTYH_000012" "g.45798475T>C" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419260" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01070" "MUTYH_000012" "g.45798475T>C" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419261" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01070" "MUTYH_000012" "g.45798475T>C" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419262" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01070" "MUTYH_000075" "g.45797228C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419263" "0" "50" "1" "45805907" "45805907" "subst" "0" "01070" "MUTYH_000256" "g.45805907C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "20G>A (Arg7His)" "" "Unknown" "" "" "0" "" "" "g.45340235C>T" "" "VUS" "" "0000419264" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01070" "MUTYH_000075" "g.45797228C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419265" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01070" "MUTYH_000075" "g.45797228C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419266" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01070" "MUTYH_000075" "g.45797228C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419267" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01070" "MUTYH_000012" "g.45798475T>C" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419268" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01070" "MUTYH_000075" "g.45797228C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419269" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01070" "MUTYH_000012" "g.45798475T>C" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419270" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01070" "MUTYH_000012" "g.45798475T>C" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419271" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01070" "MUTYH_000075" "g.45797228C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419272" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01070" "MUTYH_000012" "g.45798475T>C" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419273" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01070" "MUTYH_000012" "g.45798475T>C" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419274" "0" "50" "1" "45795080" "45795080" "subst" "0.000138081" "01070" "MUTYH_000144" "g.45795080C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1506G>A (Pro502Pro)" "" "Unknown" "" "" "0" "" "" "g.45329408C>T" "" "VUS" "" "0000419275" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01070" "MUTYH_000075" "g.45797228C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419276" "0" "50" "1" "45795080" "45795080" "subst" "0.000138081" "01070" "MUTYH_000144" "g.45795080C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1506G>A (Pro502Pro)" "" "Unknown" "" "" "0" "" "" "g.45329408C>T" "" "VUS" "" "0000419277" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01070" "MUTYH_000075" "g.45797228C>T" "" "Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419278" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419279" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419280" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419281" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419282" "0" "50" "1" "45798466" "45798466" "subst" "8.12123E-6" "00645" "MUTYH_000041" "g.45798466C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "503G>A (Arg168His)" "" "Unknown" "" "" "0" "" "" "g.45332794C>T" "" "VUS" "" "0000419283" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00645" "MUTYH_000097" "g.45797835T>G" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "891+3A>C" "" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419284" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00645" "MUTYH_000097" "g.45797835T>G" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "891+3A>C" "" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419285" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419286" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419287" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419288" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419289" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419290" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419291" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419292" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419293" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419294" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419295" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419296" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "00645" "MUTYH_000081" "g.45797139G>A" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1234C>T (Arg412Cys)" "" "Unknown" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000419297" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419298" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419299" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419300" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00645" "MUTYH_000097" "g.45797835T>G" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "891+3A>C" "" "Unknown" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419301" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419302" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419303" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419304" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419305" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419306" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419307" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00645" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419308" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419309" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419310" "0" "70" "1" "45797423" "45797423" "dup" "0" "00645" "MUTYH_000065" "g.45797423dup" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1059dup; 1092dupC (Arg354GlnfsX164); Arg365GlnfsX164" "" "Unknown" "" "" "0" "" "" "g.45331751dup" "" "likely pathogenic" "" "0000419311" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419312" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419313" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00645" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, University Hospital Basel, Basel, CH" "" "1145G>A Gly382Asp" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419324" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419325" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419330" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419331" "2" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00640" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419340" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419341" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419343" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419344" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2008:18506705}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419345" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2008:18506705}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419350" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2008:18506705}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419351" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2008:18506705}, {PMID:Nielsen 2007:17489848}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419357" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419362" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419363" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}, {PMID:Nielsen 2009b:19527492}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419377" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419388" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419389" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419392" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419393" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Nielsen 2009a:19032956}; {PMID:Nielsen 2009b:19527492}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419396" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419397" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419398" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419399" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}, {PMID:Nielsen 2009a:19032956}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419400" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "00640" "MUTYH_000019" "g.45797846G>A" "" "{PMID:Vogt 2009:19732775}; {PMID:Nielsen 2009b:19527492}" "" "883C>T (Arg295Cys)" "" "Germline" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000419401" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}; {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419404" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}; {PMID:Nielsen 2009b:19527492}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419405" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}; {PMID:Nielsen 2009b:19527492}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419406" "0" "50" "1" "45797548" "45797548" "subst" "0.00119508" "00640" "MUTYH_000137" "g.45797548C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "956-27G>A" "" "Germline" "" "" "0" "" "" "g.45331876C>T" "" "VUS" "" "0000419407" "0" "50" "1" "45797046" "45797046" "subst" "0.000105581" "00640" "MUTYH_000258" "g.45797046A>G" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1282-40T>C = 1281+46T>C" "Alamut: no major splice site change predicted" "Germline" "" "" "0" "" "" "g.45331374A>G" "" "VUS" "" "0000419408" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "Also APC germline variant: c.531+3A>C, p.(spl);" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419409" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419410" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1145G>A Gly382Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419411" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419412" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419413" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419414" "0" "70" "1" "45797935" "45797935" "subst" "0" "00640" "MUTYH_000133" "g.45797935T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "794A>G (Asn265Ser)" "" "Germline" "" "" "0" "" "" "g.45332263T>C" "" "likely pathogenic" "" "0000419415" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419416" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, LUMC, Leiden, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419417" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, LUMC, Leiden, NL" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419418" "0" "50" "1" "45799121" "45799121" "subst" "0.00142938" "00100" "MUTYH_000031" "g.45799121G>A" "1/658" "{PMID:Aretz 2006:16557584}" "" "270C>T (Tyr90Tyr)" "" "Germline" "" "" "0" "" "" "g.45333449G>A" "" "VUS" "" "0000419419" "0" "50" "1" "45798888" "45798888" "subst" "8.12612E-6" "00100" "MUTYH_000259" "g.45798888C>T" "1/658" "{PMID:Aretz 2006:16557584}" "" "347-46G>A" "" "Germline" "" "" "0" "" "" "g.45333216C>T" "" "VUS" "" "0000419420" "0" "50" "1" "45798781" "45798781" "subst" "7.71567E-5" "00100" "MUTYH_000260" "g.45798781G>A" "1/658" "{PMID:Aretz 2006:16557584}" "" "408C>T (Thr136Thr)" "" "Germline" "" "" "0" "" "" "g.45333109G>A" "" "VUS" "" "0000419421" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "00100" "MUTYH_000019" "g.45797846G>A" "1/658" "{PMID:Aretz 2006:16557584}" "" "883C>T (Arg295Cys); R295C" "" "Germline" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000419422" "0" "50" "1" "45797548" "45797548" "subst" "0.00119508" "00100" "MUTYH_000137" "g.45797548C>T" "2/658" "{PMID:Aretz 2006:16557584}" "" "956-27G>A" "" "Germline" "" "" "0" "" "" "g.45331876C>T" "" "VUS" "" "0000419423" "0" "50" "1" "45797530" "45797530" "subst" "0.000399669" "00100" "MUTYH_000100" "g.45797530G>A" "1/658" "{PMID:Aretz 2006:16557584}" "" "956-9C>T" "Alamut: no major effect predicted on acceptor splice site of intron 11" "Germline" "" "rs3219488" "0" "" "" "g.45331858G>A" "" "VUS" "" "0000419424" "0" "50" "1" "45797255" "45797255" "subst" "0.0036991" "00100" "MUTYH_000104" "g.45797255G>A" "3/658" "{PMID:Aretz 2006:16557584}" "" "1145-27C>T" "" "Germline" "" "" "0" "" "" "g.45331583G>A" "" "VUS" "" "0000419425" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "00100" "MUTYH_000081" "g.45797139G>A" "1/658" "{PMID:Aretz 2006:16557584}" "" "1234C>T (Arg412Cys)" "" "Germline" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000419426" "0" "50" "1" "45796881" "45796881" "subst" "0.00295618" "00100" "MUTYH_000261" "g.45796881G>A" "1/658" "{PMID:Aretz 2006:16557584}" "" "1407C>T (Thr469Thr)" "" "Germline" "" "" "0" "" "" "g.45331209G>A" "" "VUS" "" "0000419427" "0" "50" "1" "45800178" "45800178" "subst" "9.33995E-5" "00100" "MUTYH_000262" "g.45800178G>A" "1/658" "{PMID:Aretz 2006:16557584}" "" "" "" "Germline" "" "" "0" "" "" "g.45334506G>A" "" "VUS" "" "0000419428" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "" "{PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419429" "0" "50" "1" "45798102" "45798102" "subst" "0" "00100" "MUTYH_000201" "g.45798102C>T" "" "{PMID:Vogt 2009:19732775}" "" "707G>A (Gly236Asp)" "" "Germline" "" "" "0" "" "" "g.45332430C>T" "" "VUS" "" "0000419430" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "" "{PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419431" "0" "50" "1" "45798102" "45798102" "subst" "0" "00100" "MUTYH_000201" "g.45798102C>T" "" "{PMID:Vogt 2009:19732775}" "" "707G>A (Gly236Asp)" "" "Germline" "" "" "0" "" "" "g.45332430C>T" "" "VUS" "" "0000419432" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419433" "0" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "8/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419434" "0" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419435" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419436" "0" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419437" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419438" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419439" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419440" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419441" "0" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "8/658" "{PMID:Aretz 2006:16557584}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419442" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419443" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419444" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Aretz 2006:16557584}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419445" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Aretz 2006:16557584}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419446" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419447" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "7/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419448" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00100" "MUTYH_000077" "g.45797201G>A" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419449" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419450" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00100" "MUTYH_000051" "g.45798117C>T" "3/658" "{PMID:Vogt 2009:19732775}" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419451" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419452" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00100" "MUTYH_000051" "g.45798117C>T" "3/658" "{PMID:Vogt 2009:19732775}" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419453" "0" "70" "1" "45798561" "45798573" "del" "0" "00100" "MUTYH_000091" "g.45798561_45798573del" "" "{PMID:Vogt 2009:19732775}" "" "462+19_462+31del; 504 19_31del13" "" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "" "likely pathogenic" "" "0000419454" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419455" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419456" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419457" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419458" "0" "50" "1" "45796229" "45796229" "subst" "0" "00100" "MUTYH_000143" "g.45796229C>A" "1/658" "{PMID:Aretz 2006:16557584}" "" "1435G>T (Val479Phe); V479F" "Alamut: located at first nucleotide of exon 15; makes acceptor splice site of intron 14 slightly weaker" "Germline" "" "" "0" "" "" "g.45330557C>A" "" "VUS" "" "0000419459" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419460" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419461" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "5/658" "{PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419462" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419463" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419464" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00100" "MUTYH_000051" "g.45798117C>T" "3/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419465" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "7/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419466" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419467" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419468" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419469" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "7/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419470" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419471" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "5/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419472" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419473" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419474" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419475" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419476" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419477" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419478" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419479" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419480" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419481" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419482" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "5/658" "{PMID:Aretz 2006:16557584}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419483" "0" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "8/658" "{PMID:Aretz 2006:16557584}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419484" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419485" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419486" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419487" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419488" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419489" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "5/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419490" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419491" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419492" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419493" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419494" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419495" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419496" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419497" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419498" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419499" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419500" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419501" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419502" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419503" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419504" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419505" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "5/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419506" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419507" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419508" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "7/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419509" "0" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "8/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419510" "0" "50" "1" "45798466" "45798466" "subst" "8.12123E-6" "00100" "MUTYH_000041" "g.45798466C>T" "2/658" "{PMID:Aretz 2006:16557584}" "" "503G>A (Arg168His); R168H" "" "Germline" "" "" "0" "" "" "g.45332794C>T" "" "VUS" "" "0000419511" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419512" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419513" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419514" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419515" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419516" "1" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "8/658" "{PMID:Aretz 2006:16557584}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419517" "2" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "8/658" "{PMID:Aretz 2006:16557584}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419518" "1" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "00100" "MUTYH_000072" "g.45797348G>A" "3/658" "{PMID:Aretz 2006:16557584}" "" "1129C>T (Gln377X); Q377X" "" "Germline" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000419519" "2" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "00100" "MUTYH_000072" "g.45797348G>A" "3/658" "{PMID:Aretz 2006:16557584}" "" "1129C>T (Gln377X); Q377X" "" "Germline" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000419520" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419521" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419522" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419523" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419524" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419525" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419526" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419527" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419528" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419529" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "7/658" "{PMID:Aretz 2006:16557584}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419530" "0" "50" "1" "45798466" "45798466" "subst" "8.12123E-6" "00100" "MUTYH_000041" "g.45798466C>T" "2/658" "{PMID:Aretz 2006:16557584}" "" "503G>A (Arg168His); R168H" "" "Germline" "" "" "0" "" "" "g.45332794C>T" "" "VUS" "" "0000419531" "0" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "8/658" "{PMID:Aretz 2006:16557584}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419532" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419533" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419534" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419535" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419536" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419537" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419538" "0" "50" "1" "45796186" "45796186" "subst" "0" "00100" "MUTYH_000198" "g.45796186A>G" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1476+2T>C; 1509+2T>C (Val479_Met492del)" "Alamut: skip exon 15 very likely" "Germline" "" "" "0" "" "" "g.45330514A>G" "" "VUS" "" "0000419539" "0" "50" "1" "45797951" "45797951" "subst" "8.16247E-6" "00100" "MUTYH_000054" "g.45797951G>A" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "778C>T (Arg260Trp)" "" "Germline" "" "" "0" "" "" "g.45332279G>A" "" "VUS" "" "0000419540" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419541" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419542" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419543" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419544" "0" "90" "1" "45797507" "45797507" "subst" "6.56846E-5" "00100" "MUTYH_000062" "g.45797507G>A" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "970C>T (Gln324X)" "" "Germline" "" "" "0" "" "" "g.45331835G>A" "" "pathogenic" "" "0000419545" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419546" "1" "90" "1" "45798773" "45798778" "dup" "0" "00100" "MUTYH_000037" "g.45798773_45798778dup" "2/658" "{PMID:Aretz 2006:16557584}" "" "411_416dup (Trp138_Met139insIleTrp); 137insIW" "" "Germline" "" "" "0" "" "" "g.45333101_45333106dup" "" "pathogenic" "" "0000419547" "2" "90" "1" "45798773" "45798778" "dup" "0" "00100" "MUTYH_000037" "g.45798773_45798778dup" "2/658" "{PMID:Aretz 2006:16557584}" "" "411_416dup (Trp138_Met139insIleTrp); 137insIW" "" "Germline" "" "" "0" "" "" "g.45333101_45333106dup" "" "pathogenic" "" "0000419548" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419549" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419550" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "00100" "MUTYH_000072" "g.45797348G>A" "3/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1129C>T (Gln377X)" "" "Germline" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000419551" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419552" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "00100" "MUTYH_000072" "g.45797348G>A" "" "{PMID:Vogt 2009:19732775}" "" "1129C>T (Gln377X)" "" "Germline" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000419553" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419554" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "7/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419555" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00100" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419556" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "" "{PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419557" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00100" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Vogt 2009:19732775}" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419558" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "" "{PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419559" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00100" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Vogt 2009:19732775}" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419560" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419561" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419562" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419563" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419564" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419565" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00100" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419566" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419567" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00100" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Vogt 2009:19732775}" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419568" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419569" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419570" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419571" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "7/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419572" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419573" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "00100" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "692G>A (Arg231His)" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419574" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419575" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419576" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419577" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419578" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419579" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419580" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419581" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419582" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419583" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419584" "0" "70" "1" "45798308" "45798308" "subst" "4.06095E-6" "00100" "MUTYH_000202" "g.45798308G>A" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "592C>T (Gln196X)" "" "Germline" "" "" "0" "" "" "g.45332636G>A" "" "likely pathogenic" "" "0000419585" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "7/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419586" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419587" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00100" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419588" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00100" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Vogt 2009:19732775}" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419589" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419590" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "40/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419591" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "5/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419592" "0" "50" "1" "45798632" "45798632" "subst" "0" "00100" "MUTYH_000203" "g.45798632C>G" "1/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "421-1G>C" "Alamut: acceptor splice site of intron 5 affected; skip exon 6 very likely; (also possible retaining of intron5? r.[462_462ins462+1_463-1;463-1g>c], p.(Lys155ValfsX16))" "Germline" "" "" "0" "" "" "g.45332960C>G" "" "VUS" "" "0000419593" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "7/658" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419594" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "" "{PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419595" "0" "50" "1" "45798632" "45798632" "subst" "0" "00100" "MUTYH_000203" "g.45798632C>G" "" "{PMID:Vogt 2009:19732775}" "" "421-1G>C" "" "Germline" "" "" "0" "" "" "g.45332960C>G" "" "VUS" "" "0000419596" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "" "{PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419597" "0" "50" "1" "45798632" "45798632" "subst" "0" "00100" "MUTYH_000203" "g.45798632C>G" "" "{PMID:Vogt 2009:19732775}" "" "421-1G>C" "" "Germline" "" "" "0" "" "" "g.45332960C>G" "" "VUS" "" "0000419598" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419599" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Aretz 2006:16557584}; {PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419600" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419601" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419602" "0" "50" "1" "45798293" "45798293" "subst" "4.87349E-5" "00100" "MUTYH_000204" "g.45798293C>T" "" "{PMID:Vogt 2009:19732775}" "" "601G>A (Val201Met)" "" "Germline" "" "" "0" "" "" "g.45332621C>T" "" "VUS" "" "0000419603" "0" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00100" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Vogt 2009:19732775}" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000419604" "1" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00100" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Vogt 2009:19732775}" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000419605" "2" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00100" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Vogt 2009:19732775}" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000419606" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419607" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419608" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419609" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419610" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "" "{PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419611" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419612" "1" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Vogt 2009:19732775}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419613" "2" "90" "1" "45796895" "45796897" "del" "0" "00100" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Vogt 2009:19732775}" "" "1395_1397delGGA; 1437_1499delGGA (Glu466del); Glu466del" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419614" "0" "90" "1" "45797374" "45797374" "del" "0" "00100" "MUTYH_000069" "g.45797374del" "" "{PMID:Vogt 2009:19732775}" "" "1105delC (Ala371ProfsX23); Ala385ProfsX25" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419615" "0" "90" "1" "45800165" "45800165" "subst" "8.1217E-6" "00100" "MUTYH_000205" "g.45800165G>A" "" "{PMID:Vogt 2009:19732775}" "" "" "" "Germline" "" "" "0" "" "" "g.45334493G>A" "" "pathogenic" "" "0000419616" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419617" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419618" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419619" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419620" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419621" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419622" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419623" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419624" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419625" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419626" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419627" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419628" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419629" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419630" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419631" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419632" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419633" "0" "50" "1" "45798129" "45798129" "subst" "2.85074E-5" "00100" "MUTYH_000166" "g.45798129C>T" "" "{PMID:Vogt 2009:19732775}" "" "680G>A (Arg227Gln)" "" "Germline" "" "" "0" "" "" "g.45332457C>T" "" "VUS" "" "0000419634" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419635" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419636" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419637" "0" "70" "1" "45797887" "45797887" "subst" "1.62583E-5" "00100" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Vogt 2009:19732775}" "" "842C>T (Pro281Leu)" "" "Germline" "" "" "0" "" "" "g.45332215G>A" "" "likely pathogenic" "" "0000419638" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Vogt 2009:19732775}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419639" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419640" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00100" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Vogt 2009:19732775}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419641" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Vogt 2009:19732775}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419642" "0" "70" "1" "45797915" "45797915" "del" "0" "00100" "MUTYH_000263" "g.45797915del" "1/658" "{PMID:Aretz 2006:16557584}" "" "817delG (Ala273ProfsX32)" "monoallelic" "Germline" "" "" "0" "" "" "g.45332243del" "" "likely pathogenic" "" "0000419643" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00100" "MUTYH_000075" "g.45797228C>T" "31/658" "{PMID:Aretz 2006:16557584}" "" "1145G>A (Gly382Asp)" "monoallelic" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419644" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "00100" "MUTYH_000097" "g.45797835T>G" "5/658" "{PMID:Aretz 2006:16557584}" "" "891+3A>C" "monoallelic" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419645" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419646" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419647" "1" "50" "1" "45796899" "45796899" "subst" "0.00454804" "02939" "MUTYH_000085" "g.45796899C>G" "" "DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL" "" "1389G>C; 1422G>C (Thr463Thr)" "" "Germline" "" "" "0" "" "" "g.45331227C>G" "" "VUS" "" "0000419648" "1" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "" "DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL" "" "" "" "Germline" "" "" "0" "" "" "g.45334495G>A" "" "VUS" "" "0000419649" "1" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "" "DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL" "" "" "" "Germline" "" "" "0" "" "" "g.45334474C>T" "" "VUS" "" "0000419650" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419651" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419652" "1" "50" "1" "45799121" "45799121" "subst" "0.00142938" "02939" "MUTYH_000031" "g.45799121G>A" "" "DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL" "" "270C>T (Tyr90Tyr)" "" "Germline" "" "" "0" "" "" "g.45333449G>A" "" "VUS" "" "0000419653" "1" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "" "Medical Genetics, SGUL, London, UK" "" "1396G>T (Glu466X); E466X" "" "Germline" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000419654" "2" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "" "Medical Genetics, SGUL, London, UK" "" "1396G>T (Glu466X); E466X" "" "Germline" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000419655" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, SGUL, London, UK" "" "1145G>A Gly382Asp; G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419656" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, SGUL, London, UK" "" "1145G>A Gly382Asp; G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419657" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, SGUL, London, UK" "" "1145G>A; 1178G>A Gly382Asp; G382D; Gly393Asp" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419658" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "02939" "MUTYH_000051" "g.45798117C>T" "" "Medical Genetics, SGUL, London, UK" "" "692G>A; 725G>A (Arg231His); Arg242His" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419659" "0" "50" "1" "45800178" "45800178" "subst" "9.33995E-5" "01073" "MUTYH_000262" "g.45800178G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "Unknown" "" "" "0" "" "" "g.45334506G>A" "" "VUS" "" "0000419660" "0" "50" "1" "45800122" "45800122" "subst" "4.06062E-6" "01073" "MUTYH_000264" "g.45800122T>G" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "" "" "Unknown" "" "" "0" "" "" "g.45334450T>G" "" "VUS" "" "0000419661" "0" "50" "1" "45799275" "45799275" "subst" "0" "01073" "MUTYH_000265" "g.45799275G>C" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "158-42C>G (?)" "Intronic in NM_001048171.1 (alpha3); first nucleotide of exon3 in NM_001128425.1 (alpha5); In silico ESE site change and splice acceptor site change (Alamut)" "Unknown" "" "" "0" "" "" "g.45333603G>C" "" "VUS" "" "0000419662" "0" "50" "1" "45799143" "45799143" "subst" "1.21819E-5" "01073" "MUTYH_000266" "g.45799143C>T" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "248G>A (Arg83Gln)" "" "Unknown" "" "" "0" "" "" "g.45333471C>T" "" "VUS" "" "0000419663" "0" "50" "1" "45798914" "45798914" "subst" "4.06286E-6" "01073" "MUTYH_000267" "g.45798914G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "346+43C>T" "" "Unknown" "" "" "0" "" "" "g.45333242G>A" "" "VUS" "" "0000419664" "0" "70" "1" "45798819" "45798819" "subst" "0" "01073" "MUTYH_000268" "g.45798819G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "370C>T Gln124X" "" "Unknown" "" "" "0" "" "" "g.45333147G>A" "" "likely pathogenic" "" "0000419665" "0" "50" "1" "45798613" "45798613" "subst" "8.56437E-5" "01073" "MUTYH_000225" "g.45798613C>G" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "439G>C (Asp147His)" "" "Unknown" "" "" "0" "" "" "g.45332941C>G" "" "VUS" "" "0000419666" "0" "50" "1" "45798151" "45798151" "subst" "8.13968E-5" "01073" "MUTYH_000047" "g.45798151C>T" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "658G>A (Val220Met)" "" "Unknown" "" "" "0" "" "" "g.45332479C>T" "" "VUS" "" "0000419667" "0" "50" "1" "45797885" "45797885" "subst" "5.69018E-5" "01073" "MUTYH_000269" "g.45797885G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "844C>T (Leu282Leu)" "" "Unknown" "" "" "0" "" "" "g.45332213G>A" "" "VUS" "" "0000419668" "0" "50" "1" "45797569" "45797569" "subst" "1.29026E-5" "01073" "MUTYH_000270" "g.45797569G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "956-48C>T; 955+126C>T" "" "Unknown" "" "" "0" "" "" "g.45331897G>A" "" "VUS" "" "0000419669" "0" "50" "1" "45797545" "45797545" "subst" "0" "01073" "MUTYH_000271" "g.45797545C>T" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "956-24G>A" "" "Unknown" "" "" "0" "" "" "g.45331873C>T" "" "VUS" "" "0000419670" "0" "50" "1" "45797499" "45797499" "subst" "0" "01073" "MUTYH_000272" "g.45797499G>C" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "978C>G (His326Gln)" "" "Unknown" "" "" "0" "" "" "g.45331827G>C" "" "VUS" "" "0000419671" "0" "50" "1" "45797429" "45797429" "subst" "8.14903E-6" "01073" "MUTYH_000273" "g.45797429G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "1048C>T (Arg350Cys)" "" "Unknown" "" "" "0" "" "" "g.45331757G>A" "" "VUS" "" "0000419672" "0" "70" "1" "45797357" "45797358" "del" "0" "01073" "MUTYH_000274" "g.45797357_45797358del" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "1120_1121del (Leu374AlafsX143)" "" "Unknown" "" "" "0" "" "" "g.45331685_45331686del" "" "likely pathogenic" "" "0000419673" "0" "50" "1" "45797346" "45797346" "subst" "0" "01073" "MUTYH_000275" "g.45797346C>T" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "1131G>A (Gln377Gln)" "" "Unknown" "" "" "0" "" "" "g.45331674C>T" "" "VUS" "" "0000419674" "0" "70" "1" "45797175" "45797175" "subst" "5.28666E-5" "01073" "MUTYH_000276" "g.45797175G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "1198C>T (Gln400X)" "" "Unknown" "" "" "0" "" "" "g.45331503G>A" "" "likely pathogenic" "" "0000419675" "0" "50" "1" "45796910" "45796910" "subst" "4.46668E-5" "01073" "MUTYH_000277" "g.45796910G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "1378C>T (Arg460Cys)" "" "Unknown" "" "" "0" "" "" "g.45331238G>A" "" "VUS" "" "0000419676" "0" "50" "1" "45796852" "45796852" "subst" "0.000121821" "01073" "MUTYH_000281" "g.45796852G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "1434+2C>T (Val429_Val479del)" "Alamut: donor splice site of intron 14 affected; skip of exon 14 very likely" "Unknown" "" "" "0" "" "" "g.45331180G>A" "" "VUS" "" "0000419677" "0" "50" "1" "45796162" "45796162" "subst" "0" "01073" "MUTYH_000278" "g.45796162G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "1476+26C>T" "Alamut: make a possible strong splice acceptor site at c.1518+39 in intron 15 slightly stronger" "Unknown" "" "" "0" "" "" "g.45330490G>A" "" "VUS" "" "0000419678" "0" "50" "1" "45796159" "45796159" "subst" "0" "01073" "MUTYH_000279" "g.45796159C>T" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "1476+29G>A" "Alamut: no major splice site change predicted" "Unknown" "" "" "0" "" "" "g.45330487C>T" "" "VUS" "" "0000419679" "0" "50" "1" "45795061" "45795061" "subst" "8.1217E-5" "01073" "MUTYH_000215" "g.45795061G>A" "" "Molecular Oncology, CRCM-UMR, Marseille, FR" "" "1525C>T (Arg509Cys)" "" "Unknown" "" "" "0" "" "" "g.45329389G>A" "" "VUS" "" "0000419680" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01053" "MUTYH_000012" "g.45798475T>C" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "494A>G (Tyr165Cys)" "only variants reported, not genotypes; duplicates or new occurrences? (also reported in Kairupan , 2005)" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419681" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01053" "MUTYH_000075" "g.45797228C>T" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "1145G>A Gly382Asp" "only variants reported, not genotypes; duplicates or new occurrences? (also reported in Kairupan , 2005)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419682" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01053" "MUTYH_000063" "g.45797505C>G" "very frequent" "Genetics, John Hunter Hospital, Newcastle, AU" "" "972G>C (Gln324His)" "only variants reported, not genotypes" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419683" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "01053" "MUTYH_000005" "g.45800156C>T" "frequent" "Genetics, John Hunter Hospital, Newcastle, AU" "" "" "only variants reported, not genotypes" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419684" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "01053" "MUTYH_000094" "g.45795084G>A" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "1502C>T (Ser501Phe)" "only variants reported, not genotypes" "Germline" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000419685" "0" "50" "1" "45796865" "45796865" "subst" "3.65515E-5" "01053" "MUTYH_000059" "g.45796865C>T" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "1423G>A; G1423A (Ala475Thr); A475T" "only variants reported, not genotypes; duplicate or new occurrence? (also reported in Kairupan , 2005)" "Germline" "" "" "0" "" "" "g.45331193C>T" "" "VUS" "" "0000419686" "0" "50" "1" "45797157" "45797157" "subst" "0.000573124" "01053" "MUTYH_000141" "g.45797157G>T" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "1216C>A (Leu406Met)" "only variants reported, not genotypes" "Germline" "" "" "0" "" "" "g.45331485G>T" "" "VUS" "" "0000419687" "0" "90" "1" "45797188" "45797189" "dup" "0" "01053" "MUTYH_000078" "g.45797188_45797189dup" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "1185_1186dupGG (Glu396GlyfsX43)" "only variants reported, not genotypes" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419688" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "01053" "MUTYH_000081" "g.45797139G>A" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "1234C>T (Arg412Cys)" "only variants reported, not genotypes" "Germline" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000419689" "0" "70" "1" "45797230" "45797230" "subst" "2.04017E-5" "01053" "MUTYH_000022" "g.45797230T>C" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "1145-2A>G (Leu383CysfsX89)" "only variants reported, not genotypes; in silico prediction by Alamut: splice acceptor site exon 13 dissapears, skip of exon 13 very likely" "Germline" "" "" "0" "" "" "g.45331558T>C" "" "likely pathogenic" "" "0000419690" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "01053" "MUTYH_000097" "g.45797835T>G" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "891+3A>C" "only variants reported, not genotypes; duplicate or new occurrence? (also reported in Kairupan , 2005)" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419691" "0" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "01053" "MUTYH_000051" "g.45798117C>T" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "692G>A (Arg231His)" "only variants reported, not genotypes" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000419692" "0" "50" "1" "45797160" "45797160" "subst" "6.90956E-5" "01053" "MUTYH_000280" "g.45797160C>T" "" "Genetics, John Hunter Hospital, Newcastle, AU" "" "1213G>A (Ala405Thr)" "only variants reported, not genotypes" "Germline" "" "" "0" "" "" "g.45331488C>T" "" "VUS" "" "0000419693" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "Medical Genetics, SGUL, London, UK" "" "1145G>A Gly382Asp; G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419694" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "Medical Genetics, SGUL, London, UK" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419695" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "01072" "MUTYH_000019" "g.45797846G>A" "" "Genetics, UMCG, Groningen, NL" "" "883C>T (Arg295Cys)" "" "Unknown" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000419696" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "01072" "MUTYH_000081" "g.45797139G>A" "" "Genetics, UMCG, Groningen, NL" "" "1234C>T (Arg412Cys)" "" "Unknown" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000419697" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01066" "MUTYH_000075" "g.45797228C>T" "3/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419698" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01066" "MUTYH_000063" "g.45797505C>G" "44/230" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419699" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "51/4487 (1.1%)" "{PMID:Farrington 2005:15931596}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419700" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "51/4487 (1.1%)" "{PMID:Farrington 2005:15931596}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419701" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "17/4478 (0.4%)" "{PMID:Farrington 2005:15931596}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419702" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "51/4487 (1.1%)" "{PMID:Farrington 2005:15931596}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419703" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "17/4478 (0.4%)" "{PMID:Farrington 2005:15931596}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419704" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "8/3690 (0.2%)" "{PMID:Farrington 2005:15931596}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419705" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "51/4487 (1.1%)" "{PMID:Farrington 2005:15931596}" "" "1145G>A (Gly382Asp)" "One of these patients also heterozygous for OGG1 R197W" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419706" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "20/3690 (0.5%)" "{PMID:Farrington 2005:15931596}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419707" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02939" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Farrington 2005:15931596}" "" "1172C>T (Pro391Leu)" "Two c.536A>G or c.1187G>A heterozygous patients (out of 45) carrier of MTH1 variant R31Q; One of these two also carrier of pathogenic MUTYH c.1214C>T variant" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419708" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "17/4478 (0.4%)" "{PMID:Farrington 2005:15931596}" "" "494A>G (Tyr165Cys)" "Two c.536A>G or c.1187G>A heterozygous patients (out of 45) carrier of MTH1 variant R31Q; One of these two also carrier of pathogenic MUTYH c.1214C>T variant" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419709" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "51/4487 (1.1%)" "{PMID:Farrington 2005:15931596}" "" "1145G>A (Gly382Asp)" "Two c.536A>G or c.1187G>A heterozygous patients (out of 45) carrier of MTH1 variant R31Q; One of these two also carrier of pathogenic MUTYH c.1214C>T variant" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419710" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "37/530 (7.0%)" "{PMID:Al-Tassan 2003:14579148}" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419711" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "37/530 (7.0%)" "{PMID:Al-Tassan 2003:14579148}" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419712" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "15/200 (7.5%)" "{PMID:Al-Tassan 2003:14579148}" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419713" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "15/200 (7.5%)" "{PMID:Al-Tassan 2003:14579148}" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419714" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "37/530 (7.0%)" "{PMID:Al-Tassan 2003:14579148}" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419715" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "15/200 (7.5%)" "{PMID:Al-Tassan 2003:14579148}" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419716" "0" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "23/540 (4.3%)" "{PMID:Al-Tassan 2003:14579148}" "" "" "" "Germline" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000419717" "0" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "10/206 (4.9%)" "{PMID:Al-Tassan 2003:14579148}" "" "" "" "Germline" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000419718" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "52/530 (9.8%)" "{PMID:Al-Tassan 2003:14579148}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419719" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "52/530 (9.8%)" "{PMID:Al-Tassan 2003:14579148}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419720" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "23/200 (11.5%)" "{PMID:Al-Tassan 2003:14579148}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419721" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "23/200 (11.5%)" "{PMID:Al-Tassan 2003:14579148}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419722" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "52/530 (9.8%)" "{PMID:Al-Tassan 2003:14579148}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419723" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "23/200 (11.5%)" "{PMID:Al-Tassan 2003:14579148}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419724" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "137/530 (25.8%)" "{PMID:Al-Tassan 2003:14579148}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419725" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "137/530 (25.8%)" "{PMID:Al-Tassan 2003:14579148}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419726" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "50/202 (24.8%)" "{PMID:Al-Tassan 2003:14579148}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419727" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "50/202 (24.8%)" "{PMID:Al-Tassan 2003:14579148}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419728" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "137/530 (25.8%)" "{PMID:Al-Tassan 2003:14579148}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419729" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "50/202 (24.8%)" "{PMID:Al-Tassan 2003:14579148}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419730" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "45/546 (8.2%)" "{PMID:Al-Tassan 2003:14579148}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000419731" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "45/546 (8.2%)" "{PMID:Al-Tassan 2003:14579148}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000419732" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "20/210 (9.5%)" "{PMID:Al-Tassan 2003:14579148}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000419733" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "20/210 (9.5%)" "{PMID:Al-Tassan 2003:14579148}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000419734" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "45/546 (8.2%)" "{PMID:Al-Tassan 2003:14579148}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000419735" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "20/210 (9.5%)" "{PMID:Al-Tassan 2003:14579148}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000419736" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "9/540 (1.7%)" "{PMID:Al-Tassan 2003:14579148}" "" "1502C>T (Ser501Phe)" "" "Germline" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000419737" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "3/208 (1.4%)" "{PMID:Al-Tassan 2003:14579148}" "" "1502C>T (Ser501Phe)" "" "Germline" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000419738" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/552 (0.2%)" "{PMID:Al-Tassan 2003:14579148}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419739" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02939" "MUTYH_000081" "g.45797139G>A" "" "{PMID:Al-Tassan 2003:14579148}" "" "1234C>T (Arg412Cys)" "" "Germline" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000419740" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02939" "MUTYH_000081" "g.45797139G>A" "" "{PMID:Al-Tassan 2003:14579148}" "" "1234C>T (Arg412Cys)" "" "Germline" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000419741" "0" "50" "1" "45797902" "45797902" "subst" "0" "02939" "MUTYH_000058" "g.45797902C>T" "" "{PMID:Al-Tassan 2003:14579148}" "" "827G>A (Cys276Trp)" "" "Germline" "" "" "0" "" "" "g.45332230C>T" "" "VUS" "" "0000419742" "0" "50" "1" "45795081" "45795081" "subst" "1.62455E-5" "02939" "MUTYH_000095" "g.45795081G>A" "" "{PMID:Al-Tassan 2003:14579148}" "" "1505C>T (Pro502Leu)" "" "Germline" "" "" "0" "" "" "g.45329409G>A" "" "VUS" "" "0000419743" "0" "50" "1" "45795027" "45795027" "subst" "0.00255411" "02939" "MUTYH_000096" "g.45795027C>T" "" "{PMID:Al-Tassan 2003:14579148}" "" "1559G>A (Arg520Gln)" "" "Germline" "" "rs3219497" "0" "" "" "g.45329355C>T" "" "VUS" "" "0000419744" "0" "50" "1" "45799988" "45799988" "subst" "0" "02939" "MUTYH_000154" "g.45799988C>T" "" "{PMID:Al-Tassan 2003:14579148}" "" "" "www.fruitfly.org: no splicing effect" "Germline" "" "" "0" "" "" "g.45334316C>T" "" "VUS" "" "0000419745" "0" "50" "1" "45799181" "45799181" "subst" "0" "02939" "MUTYH_000282" "g.45799181G>A" "" "{PMID:Al-Tassan 2003:14579148}" "" "210C>T (Tyr70Tyr)" "Alamut: putative strong splice acceptor site after c.263 slightly stronger" "Germline" "" "" "0" "" "" "g.45333509G>A" "" "VUS" "" "0000419746" "0" "50" "1" "45798862" "45798862" "subst" "4.0627E-6" "02939" "MUTYH_000283" "g.45798862A>G" "" "{PMID:Al-Tassan 2003:14579148}" "" "347-20T>C" "" "Germline" "" "" "0" "" "" "g.45333190A>G" "" "VUS" "" "0000419747" "0" "50" "1" "45798234" "45798234" "subst" "0" "02939" "MUTYH_000284" "g.45798234C>T" "" "{PMID:Al-Tassan 2003:14579148}" "" "648+12C>A" "reported as c.648+12C>A, but on this position there is a G in the reference sequence" "Germline" "" "" "0" "" "" "g.45332562C>T" "" "VUS" "" "0000419748" "0" "50" "1" "45798225" "45798225" "subst" "0.00721521" "02939" "MUTYH_000070" "g.45798225G>T" "" "{PMID:Al-Tassan 2003:14579148}" "" "648+21C>A" "" "Germline" "" "" "0" "" "" "g.45332553G>T" "" "VUS" "" "0000419749" "0" "50" "1" "45797255" "45797255" "subst" "0.0036991" "02939" "MUTYH_000104" "g.45797255G>A" "" "{PMID:Al-Tassan 2003:14579148}" "" "1145-27C>T" "" "Germline" "" "rs3219490" "0" "" "" "g.45331583G>A" "" "VUS" "" "0000419750" "0" "50" "1" "45796267" "45796267" "subst" "2.36063E-5" "02939" "MUTYH_000285" "g.45796267T>C" "" "{PMID:Al-Tassan 2003:14579148}" "" "1435-38A>G" "" "Germline" "" "" "0" "" "" "g.45330595T>C" "" "VUS" "" "0000419751" "0" "50" "1" "45796161" "45796161" "subst" "0" "02939" "MUTYH_000286" "g.45796161C>T" "" "{PMID:Al-Tassan 2003:14579148}" "" "1476+27G>A" "" "Germline" "" "" "0" "" "" "g.45330489C>T" "" "VUS" "" "0000419752" "0" "50" "1" "45795080" "45795080" "subst" "0.000138081" "02939" "MUTYH_000144" "g.45795080C>T" "" "{PMID:Al-Tassan 2003:14579148}" "" "1506G>A (Pro502Pro)" "" "Germline" "" "" "0" "" "" "g.45329408C>T" "" "VUS" "" "0000419753" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Truta 2005:15951963}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419754" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Truta 2005:15951963}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419755" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/48 (2.1%) HCC patients heterozygous c.1187G>A; 0/48 c.536A>G; 4/308 (1.3%) controls heterozygous c.1187G>A or c.536A>G" "{PMID:Baudhuin 2006:16292541}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419756" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/168 (0.6%)" "{PMID:Baudhuin 2006:16292541}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419757" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/168 (1.2%)" "{PMID:Baudhuin 2006:16292541}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419758" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/168 (1.2%)" "{PMID:Baudhuin 2006:16292541}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419759" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Fornasarig 2006:16416081}" "" "494A>G (Tyr165Cys)" "Also heterozygous APC E1317Q" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419760" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Fornasarig 2006:16416081}" "" "494A>G (Tyr165Cys)" "Also heterozygous APC E1317Q" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419761" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Fornasarig 2006:16416081}" "" "494A>G (Tyr165Cys)" "Also heterozygous APC E1317Q" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419762" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Fornasarig 2006:16416081}" "" "494A>G (Tyr165Cys)" "Also heterozygous APC E1317Q" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419763" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Fornasarig 2006:16416081}" "" "494A>G (Tyr165Cys)" "Also heterozygous APC E1317Q" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419764" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Fornasarig 2006:16416081}" "" "494A>G (Tyr165Cys)" "Wild type for APC E1317Q" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419765" "1" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "102/3186 (3.2%)" "{PMID:Zhang 2006:16492928}" "" "" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419766" "2" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "102/3186 (3.2%)" "{PMID:Zhang 2006:16492928}" "" "" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419767" "0" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "102/3186 (3.2%)" "{PMID:Zhang 2006:16492928}" "" "" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419768" "1" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "98/2522 (3.9%)" "{PMID:Zhang 2006:16492928}" "" "" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419769" "2" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "98/2522 (3.9%)" "{PMID:Zhang 2006:16492928}" "" "" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419770" "0" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "98/2522 (3.9%)" "{PMID:Zhang 2006:16492928}" "" "" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419771" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cardoso 2006:16510566}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419772" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cardoso 2006:16510566}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419773" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cardoso 2006:16510566}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419774" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Cardoso 2006:16510566}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419775" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cardoso 2006:16510566}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419776" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Cardoso 2006:16510566}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419777" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Cardoso 2006:16510566}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419778" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Cardoso 2006:16510566}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419779" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Cardoso 2006:16510566}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419780" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Cardoso 2006:16510566}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419781" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/568 (1.1%)" "{PMID:Moreno 2006:16609022}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419782" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "9/664 (1.4%)" "{PMID:Moreno 2006:16609022}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419783" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/38 patients with hyperplastic polyps homozygous c.536A>G (2,6%); hyperplastic and adenomatous polyps" "{PMID:Chow 2006:16831587}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419784" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/38 patients with hyperplastic polyps homozygous c.536A>G (2,6%); hyperplastic and adenomatous polyps" "{PMID:Chow 2006:16831587}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419785" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "43/5122 (0.8%)" "{PMID:Webb 2006:16960817}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419786" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "43/5122 (0.8%)" "{PMID:Webb 2006:16960817}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419787" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "18/5122 (0.4%)" "{PMID:Webb 2006:16960817}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419788" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "43/5122 (0.8%)" "{PMID:Webb 2006:16960817}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419789" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "43/5122 (0.8%)" "{PMID:Webb 2006:16960817}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419790" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "18/5122 (0.4%)" "{PMID:Webb 2006:16960817}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419791" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "40/5390 (0.7%)" "{PMID:Webb 2006:16960817}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419792" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "17/5390 (0.3%)" "{PMID:Webb 2006:16960817}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419793" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419794" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "4/1744 (0.2%)" "{PMID:Colebatch 2006:17031395}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419795" "0" "90" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "1/1744 (0,06%)" "{PMID:Colebatch 2006:17031395}" "" "1395_1397del; 1395delGGA (Glu466del)" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000419796" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419797" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "4/1744 (0.2%)" "{PMID:Colebatch 2006:17031395}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419798" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419799" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "4/1744 (0.2%)" "{PMID:Colebatch 2006:17031395}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419800" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Colebatch 2006:17031395}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419801" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419802" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Colebatch 2006:17031395}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419803" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419804" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419805" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419806" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419807" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "02939" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Colebatch 2006:17031395}" "" "1502C>T (Ser501Phe)" "" "Germline" "" "" "0" "" "" "g.45329412G>A" "" "VUS" "" "0000419808" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Colebatch 2006:17031395}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419809" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "4/1744 (0.2%)" "{PMID:Colebatch 2006:17031395}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419810" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419811" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "10/1744 (0.6%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419812" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Colebatch 2006:17031395}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419813" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "4/956 (0.4%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419814" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Colebatch 2006:17031395}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419815" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "4/956 (0.4%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419816" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Colebatch 2006:17031395}" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419817" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/956 (0.1%)" "{PMID:Colebatch 2006:17031395}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419818" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "4/956 (0.4%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419819" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "4/956 (0.4%)" "{PMID:Colebatch 2006:17031395}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419820" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Jenkins 2005:16492921}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419821" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Jenkins 2005:16492921}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419822" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Jenkins 2005:16492921}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419823" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Jenkins 2005:16492921}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419824" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Jenkins 2005:16492921}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419825" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Jenkins 2005:16492921}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419826" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Jenkins 2005:16492921}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419827" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Jenkins 2005:16492921}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419828" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Jenkins 2005:16492921}" "" "270C>A (Tyr90X)" "" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000419829" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Jenkins 2005:16492921}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419830" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Jenkins 2005:16492921}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419831" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Jenkins 2005:16492921}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419832" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Jenkins 2005:16492921}" "" "891+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419833" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Jenkins 2005:16492921}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419834" "0" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous" "{PMID:Figueroa 2007:17203305}" "" "ex1+8C>T" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419835" "1" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous" "{PMID:Figueroa 2007:17203305}" "" "ex1+8C>T" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419836" "2" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous" "{PMID:Figueroa 2007:17203305}" "" "ex1+8C>T" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419837" "0" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous" "{PMID:Figueroa 2007:17203305}" "" "ex1+8C>T" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419838" "1" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous" "{PMID:Figueroa 2007:17203305}" "" "ex1+8C>T" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419839" "2" "50" "1" "45806053" "45806053" "subst" "0" "02939" "MUTYH_000002" "g.45806053G>A" "1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous" "{PMID:Figueroa 2007:17203305}" "" "ex1+8C>T" "" "Germline" "" "rs3219466" "0" "" "" "g.45340381G>A" "" "VUS" "" "0000419840" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Huang 2007:17220334}" "" "972G>C (Gln324His); Q335H" "heterozygous or homozygous (not specified in article); Possible interaction of c.1014G>C with smoking, OGG1 S326C and XRCC1 R194W" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419841" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Huang 2007:17220334}" "" "972G>C (Gln324His); Q335H" "heterozygous or homozygous (not specified in article); Possible interaction of c.1014G>C with smoking, OGG1 S326C and XRCC1 R194W" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419842" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Balaguer 2007:17368238}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419843" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Balaguer 2007:17368238}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419844" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Balaguer 2007:17368238}" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419845" "0" "50" "1" "45795027" "45795027" "subst" "0.00255411" "02939" "MUTYH_000096" "g.45795027C>T" "1068 CRC patients and 738 controls: variant not found" "{PMID:Schafmayer 2007:17417778}" "" "1559G>A (Arg520Gln); Q531R" "None found in 1068 German CRC patients; monomorphic; dbSNP: only in Hapmap-YRI population, sub-Saharan Africans" "Germline" "" "rs3219497" "0" "" "" "g.45329355C>T" "" "VUS" "" "0000419846" "0" "50" "1" "45795027" "45795027" "subst" "0.00255411" "02939" "MUTYH_000096" "g.45795027C>T" "1068 CRC patients and 738 controls: variant not found" "{PMID:Schafmayer 2007:17417778}" "" "1559G>A (Arg520Gln); Q531R" "None found in 738 German controls; monomorphic; dbSNP: only in Hapmap-YRI population, sub-Saharan Africans" "Germline" "" "rs3219497" "0" "" "" "g.45329355C>T" "" "VUS" "" "0000419847" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1068 CRC patients: 6 (0.6%) heterozygous; 738 controls: 3 (0.4%) heterozygous" "{PMID:Schafmayer 2007:17417778}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419848" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1068 CRC patients: 6 (0.6%) heterozygous; 738 controls: 3 (0.4%) heterozygous" "{PMID:Schafmayer 2007:17417778}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419849" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1068 CRC patients: 9 (0.8%) heterozygous, 2 (0.2%) homozygous; 738 controls: 5 (0.7%) heterozygous" "{PMID:Schafmayer 2007:17417778}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419850" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1068 CRC patients: 9 (0.8%) heterozygous, 2 (0.2%) homozygous; 738 controls: 5 (0.7%) heterozygous" "{PMID:Schafmayer 2007:17417778}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419851" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1068 CRC patients: 9 (0.8%) heterozygous, 2 (0.2%) homozygous; 738 controls: 5 (0.7%) heterozygous" "{PMID:Schafmayer 2007:17417778}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419852" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1068 CRC patients: 9 (0.8%) heterozygous, 2 (0.2%) homozygous; 738 controls: 5 (0.7%) heterozygous" "{PMID:Schafmayer 2007:17417778}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419853" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "M22V" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419854" "1" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "M22V" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419855" "2" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "M22V" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419856" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "M22V" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419857" "1" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "M22V" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419858" "2" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "M22V" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419859" "0" "50" "1" "45791154" "45791154" "subst" "0" "02939" "MUTYH_000287" "g.45791154G>A" "1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "g.15763072G>A" "" "Germline" "" "rs10890324" "0" "" "" "g.45325482G>A" "" "VUS" "" "0000419860" "1" "50" "1" "45791154" "45791154" "subst" "0" "02939" "MUTYH_000287" "g.45791154G>A" "1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "g.15763072G>A" "" "Germline" "" "rs10890324" "0" "" "" "g.45325482G>A" "" "VUS" "" "0000419861" "2" "50" "1" "45791154" "45791154" "subst" "0" "02939" "MUTYH_000287" "g.45791154G>A" "1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "g.15763072G>A" "" "Germline" "" "rs10890324" "0" "" "" "g.45325482G>A" "" "VUS" "" "0000419862" "0" "50" "1" "45791154" "45791154" "subst" "0" "02939" "MUTYH_000287" "g.45791154G>A" "1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "g.15763072G>A" "" "Germline" "" "rs10890324" "0" "" "" "g.45325482G>A" "" "VUS" "" "0000419863" "1" "50" "1" "45791154" "45791154" "subst" "0" "02939" "MUTYH_000287" "g.45791154G>A" "1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "g.15763072G>A" "" "Germline" "" "rs10890324" "0" "" "" "g.45325482G>A" "" "VUS" "" "0000419864" "2" "50" "1" "45791154" "45791154" "subst" "0" "02939" "MUTYH_000287" "g.45791154G>A" "1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "g.15763072G>A" "" "Germline" "" "rs10890324" "0" "" "" "g.45325482G>A" "" "VUS" "" "0000419865" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419866" "1" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419867" "2" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419868" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419869" "1" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419870" "2" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "1068 CRC patients: 173 (16.2%) heterozygous, 8 (0.8%) homozygous; 738 controls: 101 (13.8%) heterozygous, 5 (0.7%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419871" "0" "50" "1" "45808863" "45808863" "subst" "0.0238778" "02939" "MUTYH_000288" "g.45808863G>A" "1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "NT_032977.9:g.15780781G>A; rs9429157" "NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His" "Germline" "" "rs9429157" "0" "" "" "g.45343191G>A" "" "VUS" "" "0000419872" "1" "50" "1" "45808863" "45808863" "subst" "0.0238778" "02939" "MUTYH_000288" "g.45808863G>A" "1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "NT_032977.9:g.15780781G>A; rs9429157" "NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His" "Germline" "" "rs9429157" "0" "" "" "g.45343191G>A" "" "VUS" "" "0000419873" "2" "50" "1" "45808863" "45808863" "subst" "0.0238778" "02939" "MUTYH_000288" "g.45808863G>A" "1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "NT_032977.9:g.15780781G>A; rs9429157" "NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His" "Germline" "" "rs9429157" "0" "" "" "g.45343191G>A" "" "VUS" "" "0000419874" "0" "50" "1" "45808863" "45808863" "subst" "0.0238778" "02939" "MUTYH_000288" "g.45808863G>A" "1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "NT_032977.9:g.15780781G>A; rs9429157" "NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His" "Germline" "" "rs9429157" "0" "" "" "g.45343191G>A" "" "VUS" "" "0000419875" "2" "50" "1" "45808863" "45808863" "subst" "0.0238778" "02939" "MUTYH_000288" "g.45808863G>A" "1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "NT_032977.9:g.15780781G>A" "NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His" "Germline" "" "rs9429157" "0" "" "" "g.45343191G>A" "" "VUS" "" "0000419876" "1" "50" "1" "45808863" "45808863" "subst" "0.0238778" "02939" "MUTYH_000288" "g.45808863G>A" "1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous" "{PMID:Schafmayer 2007:17417778}" "" "NT_032977.9:g.15780781G>A; rs9429157" "NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His" "Germline" "" "rs9429157" "0" "" "" "g.45343191G>A" "" "VUS" "" "0000419877" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Balaguer 2007:17368238}" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419878" "0" "50" "1" "45799126" "45799126" "subst" "0" "02939" "MUTYH_000181" "g.45799126A>G" "4/20 (20%)" "{PMID:Wang 2005:16109524}" "" "265T>C; MUTYH(rs1140507)T-->C (Trp89Arg)" "4 were detected by the chip in the tissues of 10 hepato cellular carcinoma" "Unknown" "" "rs1140507" "0" "" "" "g.45333454A>G" "" "VUS" "" "0000419879" "0" "50" "1" "45797707" "45797707" "subst" "8.52882E-5" "02939" "MUTYH_000289" "g.45797707C>T" "1/58 (1.7%)" "{PMID:Görgens 2007:17207658}" "" "943G>A (Val315Met); V315M" "" "Germline" "" "" "0" "" "" "g.45332035C>T" "" "VUS" "" "0000419880" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "4/58 (6.9%)" "{PMID:Görgens 2007:17207658}" "" "V22M" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419881" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "4/60 (6.7%)" "{PMID:Görgens 2007:17207658}" "" "V22M" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419882" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "7/58 (12.1%)" "{PMID:Görgens 2007:17207658}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419883" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "12/60 (20%)" "{PMID:Görgens 2007:17207658}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419884" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "12/60 (20%)" "{PMID:Görgens 2007:17207658}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419885" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "12/60 (20%)" "{PMID:Görgens 2007:17207658}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419886" "0" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "1/58 (1.7%)" "{PMID:Görgens 2007:17207658}" "" "" "" "Germline" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000419887" "0" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "3/60 (5.0%)" "{PMID:Görgens 2007:17207658}" "" "" "" "Germline" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000419888" "1" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "3/60 (5.0%)" "{PMID:Görgens 2007:17207658}" "" "" "" "Germline" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000419889" "2" "50" "1" "45800033" "45800033" "subst" "0.0238208" "02939" "MUTYH_000006" "g.45800033T>C" "3/60 (5.0%)" "{PMID:Görgens 2007:17207658}" "" "" "" "Germline" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "VUS" "" "0000419890" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "3/58 (5.2%)" "{PMID:Görgens 2007:17207658}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419891" "0" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "7/60 (11.7%)" "{PMID:Görgens 2007:17207658}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419892" "1" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "7/60 (11.7%)" "{PMID:Görgens 2007:17207658}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419893" "2" "50" "1" "45798555" "45798555" "subst" "0" "02939" "MUTYH_000010" "g.45798555C>T" "7/60 (11.7%)" "{PMID:Görgens 2007:17207658}" "" "462+35G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000419894" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "3/58 (5.2%)" "{PMID:Görgens 2007:17207658}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000419895" "0" "50" "1" "45796269" "45796269" "subst" "0" "02939" "MUTYH_000106" "g.45796269C>G" "5/60 (8.3%)" "{PMID:Görgens 2007:17207658}" "" "1435-40G>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3219493" "0" "" "" "" "" "VUS" "" "0000419896" "1" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:De Ferro 2007:17868535}" "" "1105del; 1103delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419897" "2" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:De Ferro 2007:17868535}" "" "1105del; 1103delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419898" "1" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:De Ferro 2007:17868535}" "" "1105del; 1103delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419899" "2" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:De Ferro 2007:17868535}" "" "1105del; 1103delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419900" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:De Ferro 2007:17868535}" "" "1105del; 1103delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419901" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:De Ferro 2007:17868535}" "" "1105del; 1103delC (Ala371ProfsX23)" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419902" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "8/1368 (0,6%)" "{PMID:Beiner 2009:18454351}" "" "1145G>A (Gly382Asp); G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419903" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "4/1342 (0.3%)" "{PMID:Beiner 2009:18454351}" "" "494A>G (Tyr165Cys); Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419904" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "8/1564 (0.5%)" "{PMID:Beiner 2009:18454351}" "" "1145G>A (Gly382Asp); G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419905" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "5/1582 (0.3%)" "{PMID:Beiner 2009:18454351}" "" "494A>G (Tyr165Cys); Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419906" "1" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "5/878 (0.6%)" "{PMID:Avezzù 2008:18495334}" "" "1145G>A (Gly382Asp); G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419907" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "5/878 (0.6%)" "{PMID:Avezzù 2008:18495334}" "" "1145G>A (Gly382Asp); G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419908" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "1/878 (0.1%)" "{PMID:Avezzù 2008:18495334}" "" "891+3A>C; IVS10+3A>C" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419909" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "5/878 (0.6%)" "{PMID:Avezzù 2008:18495334}" "" "1145G>A (Gly382Asp); G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419910" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "5/878 (0.6%)" "{PMID:Avezzù 2008:18495334}" "" "1145G>A (Gly382Asp); G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419911" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "5/878 (0.6%)" "{PMID:Avezzù 2008:18495334}" "" "1145G>A (Gly382Asp); G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419912" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/494 (0.2%)" "{PMID:Avezzù 2008:18495334}" "" "494A>G (Tyr165Cys); Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419913" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "6/186 (3.2%)" "{PMID:Grünhage 2008:18503156}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419914" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "6/186 (3.2%)" "{PMID:Grünhage 2008:18503156}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419915" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "6/186 (3.2%)" "{PMID:Grünhage 2008:18503156}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419916" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/186 (1.1%)" "{PMID:Grünhage 2008:18503156}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419917" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "6/186 (3.2%)" "{PMID:Grünhage 2008:18503156}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419918" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/186 (1.1%)" "{PMID:Grünhage 2008:18503156}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419919" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "2/186 (1.1%)" "{PMID:Grünhage 2008:18503156}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419920" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/186 (0.5%)" "{PMID:Grünhage 2008:18503156}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419921" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Giráldez 2009:19685280}" "" "1145G>A (Gly382Asp)" "MSH6: c.?; p.Q982X" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419922" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Giráldez 2009:19685280}" "" "1145G>A (Gly382Asp)" "MSH6: c.1903A>G / p.(Arg635Gly); (p.R635G)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419923" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Giráldez 2009:19685280}" "" "1145G>A (Gly382Asp)" "MSH6: c.*16A>C / p.(?); (c.*4098A>C)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419924" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Niessen et al. 2006:16408224}" "" "494A>G (Tyr165Cys)" "MSH2: deletion exons 1 to 3" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419925" "0" "50" "1" "45805890" "45805890" "subst" "0" "02939" "MUTYH_000224" "g.45805890C>T" "" "{PMID:Niessen et al. 2006:16408224}" "" "" "MSH2: c.1729T>C" "Germline" "" "" "0" "" "" "g.45340218C>T" "" "VUS" "" "0000419926" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Niessen et al. 2006:16408224}" "" "494A>G (Tyr165Cys)" "MSH6: c.1186G>G" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419927" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "02939" "MUTYH_000019" "g.45797846G>A" "" "{PMID:Niessen et al. 2006:16408224}" "" "883C>T (Arg295Cys)" "MSH6: c.3259C>T" "Germline" "" "" "0" "" "" "g.45332174G>A" "" "VUS" "" "0000419928" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Niessen et al. 2006:16408224}" "" "1145G>A (Gly382Asp)" "MSH6: c.431G>T" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419929" "0" "70" "1" "45799144" "45799144" "subst" "1.21819E-5" "02939" "MUTYH_000029" "g.45799144G>A" "" "{PMID:Steinke 2008:18301448}" "" "247C>T (Arg83X)" "MSH6: c.3324_3325insT;p.Ile1109TyrfsX3" "Germline" "" "" "0" "" "" "g.45333472G>A" "" "likely pathogenic" "" "0000419930" "0" "70" "1" "45798467" "45798467" "subst" "4.06055E-6" "02939" "MUTYH_000040" "g.45798467G>A" "" "{PMID:Steinke 2008:18301448}" "" "502C>T (Arg168Cys)" "MSH6: c.1770C4T;p.Pro590Pro; MLH1: c.2146G4A;p.Val716Met" "Germline" "" "" "0" "" "" "g.45332795G>A" "" "likely pathogenic" "" "0000419931" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "1/884 (0.1%)" "{PMID:Ashton 2005:20223032}" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419932" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Ashton 2005:20223032}" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419933" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/884 (0.7%)" "{PMID:Ashton 2005:20223032}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419934" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/884 (0.7%)" "{PMID:Ashton 2005:20223032}" "" "1145G>A (Gly382Asp)" "hMSH2: 1661+12A>G and 1551-9T>A" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419935" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/884 (0.7%)" "{PMID:Ashton 2005:20223032}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419936" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/884 (0.7%)" "{PMID:Ashton 2005:20223032}" "" "1145G>A (Gly382Asp)" "hMSH2: pathogenic variant, not specified" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419937" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Ashton 2005:20223032}" "" "" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419938" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/884 (0.7%)" "{PMID:Ashton 2005:20223032}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419939" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "6/884 (0.7%)" "{PMID:Ashton 2005:20223032}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419940" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "4/592 (0.7%)" "{PMID:Ashton 2005:20223032}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419941" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "01071" "MUTYH_000077" "g.45797201G>A" "" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419942" "1" "90" "1" "45799121" "45799121" "subst" "0.000121822" "01071" "MUTYH_000032" "g.45799121G>T" "" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "270C>A (Tyr90X)" "" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000419943" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "01071" "MUTYH_000077" "g.45797201G>A" "" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "1172C>T (Pro391Leu)" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419944" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01071" "MUTYH_000012" "g.45798475T>C" "" "Human Genetics, UH Gasthuisberg, Leuven, BE" "" "494A>G (Tyr165Cys)" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419945" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01066" "MUTYH_000012" "g.45798475T>C" "" "Molecular Medicine, AUH, Skejby, Aarhus, DK" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419946" "0" "50" "1" "45797228" "45797228" "subst" "0.00295752" "00642" "MUTYH_000075" "g.45797228C>T" "" "" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "VUS" "" "0000419947" "0" "50" "1" "45798129" "45798129" "subst" "2.85074E-5" "00642" "MUTYH_000166" "g.45798129C>T" "" "" "" "680G>A (Arg227Gln)" "" "Germline" "" "" "0" "" "" "g.45332457C>T" "" "VUS" "" "0000419948" "1" "50" "1" "45798269" "45798269" "subst" "0.000215279" "00642" "MUTYH_000045" "g.45798269T>C" "" "MGZ, Munchen, DE" "" "625A>G (Ile209Val)" "" "Unknown" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000419949" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00642" "MUTYH_000063" "g.45797505C>G" "" "" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419950" "1" "50" "1" "45798269" "45798269" "subst" "0.000215279" "00642" "MUTYH_000045" "g.45798269T>C" "" "MGZ, Munchen, DE" "" "625A>G (Ile209Val)" "" "Unknown" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000419951" "1" "50" "1" "45797505" "45797505" "subst" "0.289123" "00642" "MUTYH_000063" "g.45797505C>G" "" "" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419952" "2" "50" "1" "45797505" "45797505" "subst" "0.289123" "00642" "MUTYH_000063" "g.45797505C>G" "" "" "" "972G>C (Gln324His)" "" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419953" "1" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "00642" "MUTYH_000018" "g.45797887G>A" "" "MGZ, Munchen, DE" "" "842C>T (Pro281Leu)" "" "Unknown" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000419954" "1" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "00642" "MUTYH_000018" "g.45797887G>A" "" "MGZ, Munchen, DE" "" "842C>T (Pro281Leu)" "" "Unknown" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000419955" "1" "90" "1" "45800059" "45800059" "subst" "0" "00642" "MUTYH_000318" "g.45800059C>G" "" "" "" "156+5G>C ?" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000419956" "1" "50" "1" "45797548" "45797548" "subst" "0.00119508" "00642" "MUTYH_000137" "g.45797548C>T" "" "" "" "956-27C>T (=)" "" "Unknown" "" "" "0" "" "" "g.45331876C>T" "" "VUS" "" "0000419957" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "1145G>A (Gly382asp); G382D" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419958" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "5/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "494A>G (Tyr165Cys); Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419959" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "5/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "494A>G (Tyr165Cys); Y165C" "APC variant: p.I1055I" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419960" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "5/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "494A>G (Tyr165Cys); Y165C" "APC variant: p.I1055I" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419961" "1" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02939" "MUTYH_000077" "g.45797201G>A" "3/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "1172C>T (Pro391Leu); P391L" "APC variants: c.721G>A/p.E241K, c.3949G>C/p.E1317Q, c.5285G>A/p.A1765A and c.7504G>A/p.G2802S" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419962" "2" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02939" "MUTYH_000077" "g.45797201G>A" "3/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "1172C>T (Pro391Leu); P391L" "APC variants: c.721G>A/p.E241K, c.3949G>C/p.E1317Q, c.5285G>A/p.A1765A and c.7504G>A/p.G2802S" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419963" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02939" "MUTYH_000077" "g.45797201G>A" "3/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "1172C>T (Pro391Leu); P391L" "" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419964" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "5/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "494A>G (Tyr165Cys); Y165C" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419965" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "1/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "891+3A>C (Gly250TrpfsX7)" "Fruitfly: abolished score for splice donor site; APC variant: p.I1055I" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000419966" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "5/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "494A>G (Tyr165Cys); Y165C" "Fruitfly: abolished score for splice donor site; APC variant: p.I1055I" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419967" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "6/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419968" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "6/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419969" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "6/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419970" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "3/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "V22M" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419971" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "3/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "V22M" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419972" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "6/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419973" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "6/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419974" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "3/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "V22M" "" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "VUS" "" "0000419975" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "6/30 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "972G>C (Gln324His); Q324H" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000419976" "0" "90" "1" "45798445" "45798445" "subst" "4.06055E-6" "02939" "MUTYH_000042" "g.45798445C>T" "0/192 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "524G>A (Gly175Glu); G175E" "Variant not found in 96 Swedish controls" "Germline" "" "" "0" "" "" "g.45332773C>T" "" "pathogenic" "" "0000419977" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02939" "MUTYH_000077" "g.45797201G>A" "0/192 alleles" "{PMID:Kanter-Smoler 2006:16616356}" "" "1172C>T (Pro391Leu); P391L" "Variant not found in 96 Swedish controls" "Germline" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000419978" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "1/192 alleles, 1/96 healthy Swedish controls" "{PMID:Kanter-Smoler 2006:16616356}" "" "1145G>A (Gly382asp); G382D" "Variant found in 1/96 Swedish controls" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419979" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02939" "MUTYH_000081" "g.45797139G>A" "1/192 alleles, 1/96 healthy Swedish controls" "{PMID:Kanter-Smoler 2006:16616356}" "" "1234C>T (Arg412Cys)" "Variant found in 1/96 Swedish controls" "Germline" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000419980" "0" "50" "1" "45797255" "45797255" "subst" "0.0036991" "02939" "MUTYH_000104" "g.45797255G>A" "1/192 alleles, 1/96 healthy Swedish controls" "{PMID:Kanter-Smoler 2006:16616356}" "" "1145-27C>T" "Variant found in 1/96 Swedish controls" "Germline" "" "rs3219490" "0" "" "" "g.45331583G>A" "" "VUS" "" "0000419981" "0" "50" "1" "0" "0" "ins" "0" "01076" "MUTYH_000319" "g.?" "43.2%,alleles" "{PMID:Sun C et al.,2009:19932167}" "" "" "the inserted fragment was highly homologous to the\r\nconsensus of a conserved AluYb8 subfamily (u 14570, GenBank) in its\r\nreversed orientation." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000419982" "3" "70" "1" "45794768" "45799052" "delins" "0" "01082" "MUTYH_000323" "g.45794768_45799052delinsTA" "" "{PMID:Torrezan 2011:21962078}" "" "" "" "Unknown" "" "" "0" "" "" "g.45329096_45333380delinsTA" "" "likely pathogenic" "" "0000419983" "3" "90" "1" "45799075" "45799075" "subst" "0" "01086" "MUTYH_000321" "g.45799075G>A" "" "Institute of Human Genetics, Bonn, Germany" "" "306+10C>T Ala103ValfsX32" "" "Unknown" "" "" "0" "" "" "g.45333403G>A" "" "pathogenic" "" "0000419984" "3" "90" "1" "45799075" "45799075" "subst" "0" "01086" "MUTYH_000321" "g.45799075G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.45333403G>A" "" "pathogenic" "" "0000419985" "2" "90" "1" "45797374" "45797374" "del" "0" "01082" "MUTYH_000069" "g.45797374del" "" "" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419986" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01082" "MUTYH_000012" "g.45798475T>C" "" "" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419987" "2" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01082" "MUTYH_000012" "g.45798475T>C" "" "" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419988" "1" "70" "1" "45798843" "45798843" "subst" "0" "01082" "MUTYH_000127" "g.45798843C>G" "" "" "" "347-1G>C" "Alamut: acceptor splice site of intron 4 affected; skip of exon 5 very likely (or retaining of intron 4 also possible? r.([388_389ins388+1_389-1;389-1g>a]), p.(Val130GlyfsX6))" "Unknown" "" "" "0" "" "" "g.45333171C>G" "" "likely pathogenic" "" "0000419989" "3" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "01082" "MUTYH_000050" "g.45798130G>A" "" "" "" "679C>T (Arg227Trp)" "" "Germline" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "pathogenic" "" "0000419990" "3" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "01082" "MUTYH_000050" "g.45798130G>A" "" "" "" "679C>T (Arg227Trp)" "" "Unknown" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "pathogenic" "" "0000419991" "2" "90" "1" "45797188" "45797189" "dup" "0" "01082" "MUTYH_000078" "g.45797188_45797189dup" "" "" "" "1185_1186dup (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000419992" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01082" "MUTYH_000012" "g.45798475T>C" "" "" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419993" "1" "90" "1" "45794768" "45799052" "delins" "0" "01088" "MUTYH_000323" "g.45794768_45799052delinsTA" "" "{PMID:Rouleau et al.,2011:21815886}" "" "" "" "Germline" "" "" "0" "" "" "g.45329096_45333380delinsTA" "" "pathogenic" "" "0000419994" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01088" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Rouleau et al.,2011:21815886}" "" "1145G>A (Gly382Asp)" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419995" "2" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00579" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000419996" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419997" "2" "90" "1" "45797374" "45797374" "del" "0" "00579" "MUTYH_000069" "g.45797374del" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1105del; 1105delC (Ala371ProfsX23)" "" "Unknown" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000419998" "1" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000419999" "3" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00579" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1145G>A (Gly382Asp)" "" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420000" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00579" "MUTYH_000077" "g.45797201G>A" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1172C>T (Pro391Leu)" "" "Unknown" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000420001" "0" "50" "1" "45805566" "45805566" "subst" "0" "01091" "MUTYH_000004" "g.45805566C>G" "1/54 controls" "{PMID:Plotz 2012:22473953}" "" "IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)" "The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA\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" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000420002" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "01091" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Plotz et al. 2012:22473953}" "" "972G>C (Gln324His)" "" "Germline" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000420003" "3" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01091" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Plotz et al. 2012:22473953}" "" "1145G>A (Gly382Asp)" "No effect on alternative first exon usage" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420004" "0" "90" "1" "45797374" "45797374" "del" "0" "01091" "MUTYH_000069" "g.45797374del" "" "{PMID:Plotz et al. 2012:22473953}" "" "1105del; 1105delC (Ala371ProfsX23)" "No effect on usage of alternative first exons" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000420005" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01091" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Plotz et al. 2012:22473953}" "" "1145G>A (Gly382Asp)" "No effect on usage of alternative first exons" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420006" "0" "50" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "1/800" "{PMID:Laarabi 2010:20939750}" "" "494A>G (Tyr165Cys)" "1 heterozygote in 400 persons, general Moroccan population" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "VUS" "" "0000420007" "0" "50" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "3/800" "{PMID:Laarabi 2010:20939750}" "" "1145G>A (Gly382Asp)" "3 heterozygote in 400 persons, general Moroccan population" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "VUS" "" "0000420008" "0" "50" "1" "45797188" "45797189" "dup" "0" "00640" "MUTYH_000078" "g.45797188_45797189dup" "1/500" "{PMID:Laarabi 2010:20939750}" "" "1186_1187insGG Glu396fsX42" "1 heterozygote in 250 persons, general Moroccan population" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "VUS" "" "0000420009" "0" "50" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Garre 2011:21355073}" "" "1145G>A (Gly382Asp)" "1 heterozygous index from 42 index cases in Spanish MSS-HNPCC families" "Unknown" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "VUS" "" "0000420010" "0" "50" "1" "45798555" "45798555" "subst" "0" "00640" "MUTYH_000010" "g.45798555C>T" "15.8%-14%" "{PMID:Garre 2011:21355073}" "" "IVS6+35G>A" "cases MSS-HNPCC like indexes vs controls cases: 12/76 (15.8%) controls 23/164 (14%)\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." "Unknown" "" "rs3219487" "0" "" "" "" "" "VUS" "" "0000420011" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "00640" "MUTYH_000063" "g.45797505C>G" "19%-18%" "{PMID:Garre 2011:21355073}" "" "972G>C (Gln324His)" "cases MSS-HNPCC like indexes vs controls; cases 15/78 (19.2%0), conrols 31/168 (18.4%)" "Unknown" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "VUS" "" "0000420012" "0" "50" "1" "45805566" "45805566" "subst" "0" "01091" "MUTYH_000004" "g.45805566C>G" "1/54 controls" "{PMID:Plotz 2012:22473953}" "" "" "The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA\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" "" "rs3219468" "0" "" "" "" "" "VUS" "" "0000420013" "0" "70" "1" "45797974" "45797974" "subst" "8.1642E-6" "00640" "MUTYH_000325" "g.45797974G>C" "" "Spier and Aretz (unpublished)" "" "755C>G Ala252Gly" "PolyPhen possible damaging" "Unknown" "" "" "0" "" "" "g.45332302G>C" "" "likely pathogenic" "" "0000420014" "0" "90" "1" "45796895" "45796897" "del" "0" "00640" "MUTYH_000086" "g.45796895_45796897del" "" "Spier and Aretz (unpublished)" "" "1395_1397delGGA (Glu466del)" "" "Unknown" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000420015" "0" "50" "1" "45797952" "45797952" "subst" "1.2242E-5" "00640" "MUTYH_000326" "g.45797952G>C" "" "Spier and Aretz (unpublished)" "" "777C>G (Ala273) Ala259" "" "Unknown" "" "" "0" "" "" "g.45332280G>C" "" "VUS" "" "0000420016" "0" "50" "1" "45797519" "45797519" "subst" "1.33412E-5" "00579" "MUTYH_000327" "g.45797519G>C" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "" "" "Unknown" "" "" "0" "" "" "g.45331847G>C" "" "VUS" "" "0000420017" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00579" "MUTYH_000075" "g.45797228C>T" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1145G>A (Gly382Asp)" "MSH6: c.1903A>G / p.(Arg635Gly); (p.R635G)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420018" "0" "90" "1" "45797188" "45797189" "dup" "0" "00579" "MUTYH_000078" "g.45797188_45797189dup" "" "Clinical Genetics, ErasmusMC, Rotterdam, NL" "" "1185_1186dup (Glu396GlyfsX43)" "" "Unknown" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000420020" "3" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Görgens 2006:16645203}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420022" "3" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00579" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Görgens 2006:16645203}" "" "494A>G (Tyr165Cys)" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420024" "3" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00727" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Unknown" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420025" "0" "50" "1" "45796973" "45796973" "subst" "0" "02886" "MUTYH_000329" "g.45796973A>T" "" "" "" "" "patient with pathogenic APC mutation (c.423-11A>G), segregating in the family with the phenotype, confirmed splice mutation by mRNA analysis" "Unknown" "" "" "0" "" "" "g.45331301A>T" "" "VUS" "" "0000420026" "11" "90" "1" "45798561" "45798573" "del" "0" "00643" "MUTYH_000091" "g.45798561_45798573del" "" "Greece: Athens" "" "504+19_504+31del13" "" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "" "pathogenic" "" "0000420027" "0" "70" "1" "45797836" "45797836" "subst" "0" "00643" "MUTYH_000330" "g.45797836A>C" "" "Greece: Athens" "" "" "" "Germline" "" "" "0" "" "" "g.45332164A>C" "" "likely pathogenic" "" "0000420028" "0" "50" "1" "45798364" "45798364" "subst" "4.06068E-6" "01131" "MUTYH_000331" "g.45798364T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.45332692T>C" "" "VUS" "" "0000420029" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00642" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "MSH6: c.1903A>G / p.(Arg635Gly); (p.R635G)" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420030" "0" "50" "1" "45797099" "45797099" "subst" "4.06187E-6" "00642" "MUTYH_000332" "g.45797099A>G" "" "" "" "1316T>C Leu439Pro" "" "Germline" "" "" "0" "" "" "g.45331427A>G" "" "VUS" "" "0000420031" "0" "90" "1" "45797374" "45797374" "del" "0" "00642" "MUTYH_000069" "g.45797374del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000420032" "0" "50" "1" "45797227" "45797227" "subst" "0" "01087" "MUTYH_000333" "g.45797227A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.45331555A>G" "" "VUS" "" "0000420033" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420034" "0" "50" "1" "45794989" "45794989" "subst" "0" "02940" "MUTYH_000342" "g.45794989C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45329317C>T" "" "VUS" "" "0000420035" "0" "90" "1" "45797374" "45797374" "del" "0" "02940" "MUTYH_000069" "g.45797374del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000420036" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420037" "0" "90" "1" "45796229" "45796229" "subst" "0" "02940" "MUTYH_000143" "g.45796229C>A" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45330557C>A" "" "pathogenic" "" "0000420038" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02940" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "disruptive variant" "" "Germline" "" "" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000420039" "0" "90" "1" "45797374" "45797374" "del" "0" "02940" "MUTYH_000069" "g.45797374del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "disruptive variant" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000420040" "0" "90" "1" "45797188" "45797189" "dup" "0" "02940" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "disruptive variant" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000420041" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420042" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420043" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420044" "3" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420045" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420046" "0" "90" "1" "45798969" "45798969" "subst" "6.09389E-5" "02940" "MUTYH_000125" "g.45798969G>A" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45333297G>A" "" "pathogenic" "" "0000420047" "3" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420048" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420049" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420050" "3" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420051" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420052" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420053" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420054" "0" "90" "1" "45797374" "45797374" "del" "0" "02940" "MUTYH_000069" "g.45797374del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000420055" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420056" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420057" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420058" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420059" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420060" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420061" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420062" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02940" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000420063" "0" "90" "1" "45796229" "45796229" "subst" "0" "02940" "MUTYH_000143" "g.45796229C>A" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "splicing variant" "" "Germline" "" "" "0" "" "" "g.45330557C>A" "" "pathogenic" "" "0000420064" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420065" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420066" "0" "90" "1" "45797374" "45797374" "del" "0" "02940" "MUTYH_000069" "g.45797374del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000420067" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420068" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420069" "0" "90" "1" "45797188" "45797189" "dup" "0" "02940" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000420070" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420071" "0" "90" "1" "45796895" "45796897" "del" "0" "02940" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000420072" "3" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420073" "3" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420074" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420075" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "02940" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332445C>T" "" "pathogenic" "" "0000420076" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420077" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420078" "0" "90" "1" "45797188" "45797189" "dup" "0" "02940" "MUTYH_000078" "g.45797188_45797189dup" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000420079" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420080" "0" "50" "1" "45797924" "45797924" "subst" "4.06964E-6" "02940" "MUTYH_000017" "g.45797924T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332252T>C" "" "VUS" "" "0000420081" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420082" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420083" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420084" "0" "90" "1" "45797752" "45797752" "subst" "1.21828E-5" "02940" "MUTYH_000119" "g.45797752G>A" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332080G>A" "" "pathogenic" "" "0000420085" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420086" "0" "90" "1" "45796895" "45796897" "del" "0" "02940" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000420087" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420088" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420089" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420090" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420091" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420092" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420093" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420094" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02940" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420095" "3" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420096" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420097" "0" "50" "1" "45794988" "45794988" "del" "8.12123E-6" "02940" "MUTYH_000341" "g.45794988del" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45329316del" "" "VUS" "" "0000420098" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02940" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Baert-Desurmont 2018:29967336}" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000420099" "0" "70" "1" "45798843" "45798843" "subst" "0" "02181" "MUTYH_000127" "g.45798843C>G" "" "" "" "c.347-1GC" "" "Unknown" "" "" "0" "" "" "g.45333171C>G" "" "likely pathogenic" "" "0000420100" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02181" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420101" "0" "70" "1" "45798458" "45798458" "subst" "1.21817E-5" "02939" "MUTYH_000190" "g.45798458G>A" "" "{PMID:Molatore 2009:19953527}" "" "19953527_553_silico" "In silico analysis; PolyPhen, SIFT, MuPro; Predicted to be benign; Does not match in vivo and in vitro assays" "In vitro (cloned)" "" "" "0" "" "" "g.45332786G>A" "" "NA" "" "0000420102" "0" "70" "1" "45798458" "45798458" "subst" "1.21817E-5" "02939" "MUTYH_000190" "g.45798458G>A" "" "{PMID:Molatore 2009:19953527}" "" "19953527_553_MEF" "In vivo complementation assay; Mutant MUTYH expression and function in MUTYH null mouse embryonic fibroblasts; Lower protein expression compared to wild-type and much less 8-oxodG repair; in nucleus of proliferating cells (like WT); Expression from transfected plasmid with site-directed mutated human MutYgamma3 cDNA (RefSeq: NM_001048173.1)" "In vitro (cloned)" "" "" "0" "" "" "g.45332786G>A" "" "NA" "" "0000420103" "0" "70" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Molatore 2009:19953527}" "" "19953527_1437_1439_MEF" "In vivo complementation assay; Mutant MUTYH expression and function in MUTYH null mouse embryonic fibroblasts; Lower protein expression compared to wild-type and much less 8-oxodG repair; in nucleus of proliferating cells (like WT); Expression from transfected plasmid with site-directed mutated human MutYgamma3 cDNA (RefSeq: NM_001048173.1)" "In vitro (cloned)" "" "" "0" "" "" "g.45331223_45331225del" "" "NA" "" "0000420104" "0" "70" "1" "45798773" "45798778" "dup" "0" "02939" "MUTYH_000037" "g.45798773_45798778dup" "" "{PMID:Molatore 2009:19953527}" "" "19953527_453_458_MEF" "In vivo complementation assay; Mutant MUTYH expression and function in MUTYH null mouse embryonic fibroblasts; Much lower protein expression compared to wild-type and less 8-oxodG repair; in nucleus of proliferating cells (like WT); Expression from transfected plasmid with site-directed mutated human MutYgamma3 cDNA (RefSeq: NM_001048173.1)" "In vitro (cloned)" "" "" "0" "" "" "g.45333101_45333106dup" "" "NA" "" "0000420105" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Molatore 2009:19953527}" "" "19953527_536_MEF" "In vivo complementation assay; Mutant MUTYH expression and function in MUTYH null mouse embryonic fibroblasts; Much lower protein expression compared to wild-type and much less 8-oxodG repair; in nucleus of proliferating cells (like WT); Expression from transfected plasmid with site-directed mutated human MutYgamma3 cDNA (RefSeq: NM_001048173.1)" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420106" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Molatore 2009:19953527}" "" "19953527_1187_MEF" "In vivo complementation assay; Mutant MUTYH expression and function in MUTYH null mouse embryonic fibroblasts; Protein expression comparable to wild-type and much less 8-oxodG repair; in nucleus of proliferating cells (like WT); Expression from transfected plasmid with site-directed mutated human MutYgamma3 cDNA (RefSeq: NM_001048173.1)" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420107" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "02939" "MUTYH_000050" "g.45798130G>A" "" "{PMID:Bai 2005:15673720} determine effect of variant from {PMID:Fleischmann 2004:14991577}" "" "15673720_227_coli" "In vivo complementation assay; Mutant MUTYH function in E.coli with defect mutY (and mutM); failed to complement repair function; Expression from vector with site-directed mutated human MutYalpha3 cDNA (RefSeq: NM_001048171.1)" "In vitro (cloned)" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "NA" "" "0000420108" "0" "90" "1" "45798115" "45798115" "subst" "5.70395E-5" "02939" "MUTYH_000053" "g.45798115C>A" "" "{PMID:Bai 2005:15673720} determine effect of variant from {PMID:Sieber 2003:12606733}" "" "15673720_232_coli" "In vivo complementation assay; Mutant MUTYH function in E.coli with defect mutY (and mutM); failed to complement repair function; Expression from vector with site-directed mutated human MutYalpha3 cDNA (RefSeq: NM_001048171.1)" "In vitro (cloned)" "" "" "0" "" "" "g.45332443C>A" "" "NA" "" "0000420109" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "02939" "MUTYH_000050" "g.45798130G>A" "" "{PMID:Bai 2005:15673720} determine effect of variant from {PMID:Fleischmann 2004:14991577}" "" "15673720_227_mutS" "In vitro binding assay; glutathione S-transferase (GST) pull-down assay with hMSH2/hMSH6 (hMutSalpha); no effect on physical interaction hMYH and hMSH6; Expression from vector with site-directed mutated human MutYalpha3 cDNA (RefSeq: NM_001048171.1)" "In vitro (cloned)" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "NA" "" "0000420110" "0" "90" "1" "45798115" "45798115" "subst" "5.70395E-5" "02939" "MUTYH_000053" "g.45798115C>A" "" "{PMID:Bai 2005:15673720} determine effect of variant from {PMID:Sieber 2003:12606733}" "" "15673720_232_mutS" "In vitro binding assay; glutathione S-transferase (GST) pull-down assay with hMSH2/hMSH6 (hMutSalpha); no effect on physical interaction hMYH and hMSH6; Expression from vector with site-directed mutated human MutYalpha3 cDNA (RefSeq: NM_001048171.1)" "In vitro (cloned)" "" "" "0" "" "" "g.45332443C>A" "" "NA" "" "0000420111" "0" "90" "1" "45798115" "45798115" "subst" "5.70395E-5" "02939" "MUTYH_000053" "g.45798115C>A" "" "{PMID:Bai 2005:15673720} determine effect of variant from {PMID:Sieber 2003:12606733}" "" "15673720_232_oxoGA" "In vitro binding and functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate and gel retardation binding assay; reduced A/8-oxoG binding (2% of WT) and glycosylase activity (11% of WT); Expression from vector with site-directed mutated human MutYalpha3 cDNA (RefSeq: NM_001048171.1)" "In vitro (cloned)" "" "" "0" "" "" "g.45332443C>A" "" "NA" "" "0000420112" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "02939" "MUTYH_000050" "g.45798130G>A" "" "{PMID:Bai 2005:15673720} determine effect of variant from {PMID:Fleischmann 2004:14991577}" "" "15673720_227_oxoGA" "In vitro binding and functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate and gel retardation binding assay; severe defect in A/8-oxoG binding (0% of WT) and glycosylase activity (0% of WT); Expression from vector with site-directed mutated human MutYalpha3 cDNA (RefSeq: NM_001048171.1)" "In vitro (cloned)" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "NA" "" "0000420113" "0" "50" "1" "45797506" "45797506" "subst" "0.00014449" "02939" "MUTYH_000044" "g.45797506T>C" "" "{PMID:Kundu 2009:19836313}" "" "19836313_1013_ecoli" "In vivo complementation assay; Mutant MUTYH function in MutY/MutM deficient E. Coli; Complete complementation; MUTYH expressed as fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria)" "In vitro (cloned)" "" "" "0" "" "" "g.45331834T>C" "" "NA" "" "0000420114" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02939" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Kundu 2009:19836313}" "" "19836313_1214_ecoli" "In vivo complementation assay; Mutant MUTYH function in MutY/MutM deficient E. Coli; No complementation; MUTYH expressed as fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria)" "In vitro (cloned)" "" "" "0" "" "" "g.45331529G>A" "" "NA" "" "0000420115" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kundu 2009:19836313}" "" "19836313_536_ecoli" "In vivo complementation assay; Mutant MUTYH function in MutY/MutM deficient E. Coli; No complementation; MUTYH expressed as fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria)" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420116" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kundu 2009:19836313}" "" "19836313_1187_ecoli" "In vivo complementation assay; Mutant MUTYH function in MutY/MutM deficient E. Coli; Reduced complementation; MUTYH expressed as fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria)" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420117" "0" "90" "1" "45798145" "45798145" "subst" "0" "02939" "MUTYH_000043" "g.45798145C>T" "" "{PMID:Kundu 2009:19836313}" "" "19836313_678_glyco" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; No detectable glycosylase activity; Purified MUTYH fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria)" "In vitro (cloned)" "" "" "0" "" "" "g.45332473C>T" "" "NA" "" "0000420118" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02939" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Kundu 2009:19836313}" "" "19836313_1214_glyco" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; rate of adenine removal 29% of WT MUTYH; Purified MUTYH fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria)" "In vitro (cloned)" "" "" "0" "" "" "g.45331529G>A" "" "NA" "" "0000420119" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Kundu 2009:19836313}" "" "19836313_536_glyco" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; rate of adenine removal 31% of WT MUTYH; Purified MUTYH fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria)" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420120" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Kundu 2009:19836313}" "" "19836313_1187_glyco" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; rate of adenine removal 34% of WT MUTYH; Purified MUTYH fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria)" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420121" "0" "50" "1" "45797506" "45797506" "subst" "0.00014449" "02939" "MUTYH_000044" "g.45797506T>C" "" "{PMID:Kundu 2009:19836313}" "" "19836313_1013_glyco" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; rate of adenine removal 37% of WT MUTYH; Purified MUTYH fusion protein with N-terminal maltose binding protein (MBP) tag. (First seven Arginines modified because of low Arg-tRNA in bacteria)" "In vitro (cloned)" "" "" "0" "" "" "g.45331834T>C" "" "NA" "" "0000420122" "0" "70" "1" "45798145" "45798145" "subst" "0" "00640" "MUTYH_000043" "g.45798145C>T" "" "{PMID:Goto 2010:20848659}" "" "20848659_D208N" "In vitro functional assay; in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective" "In vitro (cloned)" "" "" "0" "" "" "g.45332473C>T" "" "NA" "" "0000420123" "0" "90" "1" "45796895" "45796897" "del" "0" "00640" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Goto 2010:20848659}" "" "20848659_452delE" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective" "In vitro (cloned)" "" "" "0" "" "" "g.45331223_45331225del" "" "NA" "" "0000420124" "0" "90" "1" "45797507" "45797507" "subst" "6.56846E-5" "00640" "MUTYH_000062" "g.45797507G>A" "" "{PMID:Goto 2010:20848659}" "" "20848659_ Q310X" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective" "In vitro (cloned)" "" "" "0" "" "" "g.45331835G>A" "" "NA" "" "0000420125" "0" "70" "1" "45798466" "45798466" "subst" "8.12123E-6" "00640" "MUTYH_000041" "g.45798466C>T" "" "{PMID:Goto 2010:20848659}" "" "20848659_R154H" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective" "In vitro (cloned)" "" "" "0" "" "" "g.45332794C>T" "" "NA" "" "0000420126" "0" "70" "1" "45797228" "45797228" "subst" "0.00295752" "00640" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Goto 2010:20848659}" "" "20848659_ G368D" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; reduced glycosylase activity to about 15.2% of wildtype" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420127" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Chmiel 2003:12628248}" "" "12628248_complementation_G253D" "In vivo complementation assay; E. coli (MutY/MutM deficient) complementation assay with E. Coli MutY: G253D (homologue of hMUTYH G396D); Ability to complement activity of E. coli MutY similar to wild-type E. Coli MutY" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420128" "0" "90" "1" "45798145" "45798145" "subst" "0" "02939" "MUTYH_000043" "g.45798145C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_D222N" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A" "In vitro (cloned)" "" "" "0" "" "" "g.45332473C>T" "" "NA" "" "0000420129" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02939" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_P281L" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A" "In vitro (cloned)" "" "" "0" "" "" "g.45332215G>A" "" "NA" "" "0000420130" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_1103delC" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A" "In vitro (cloned)" "" "" "0" "" "" "g.45331702del" "" "NA" "" "0000420131" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "02939" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_R231H" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A" "In vitro (cloned)" "" "" "0" "" "" "g.45332445C>T" "" "NA" "" "0000420132" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_Y165C" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420133" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02939" "MUTYH_000072" "g.45797348G>A" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_Q377X" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A" "In vitro (cloned)" "" "" "0" "" "" "g.45331676G>A" "" "NA" "" "0000420134" "0" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_Q466X" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A" "In vitro (cloned)" "" "" "0" "" "" "g.45331220C>A" "" "NA" "" "0000420135" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_Y90X" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A" "In vitro (cloned)" "" "" "0" "" "" "g.45333449G>T" "" "NA" "" "0000420136" "0" "90" "1" "45798145" "45798145" "subst" "0" "02939" "MUTYH_000043" "g.45798145C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_D222N" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding" "In vitro (cloned)" "" "" "0" "" "" "g.45332473C>T" "" "NA" "" "0000420137" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02939" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_P281L" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding" "In vitro (cloned)" "" "" "0" "" "" "g.45332215G>A" "" "NA" "" "0000420138" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_1103delC" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding" "In vitro (cloned)" "" "" "0" "" "" "g.45331702del" "" "NA" "" "0000420139" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "02939" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_R231H" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding" "In vitro (cloned)" "" "" "0" "" "" "g.45332445C>T" "" "NA" "" "0000420140" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_Y165C" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420141" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02939" "MUTYH_000072" "g.45797348G>A" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_Q377X" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding" "In vitro (cloned)" "" "" "0" "" "" "g.45331676G>A" "" "NA" "" "0000420142" "0" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_Q466X" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding" "In vitro (cloned)" "" "" "0" "" "" "g.45331220C>A" "" "NA" "" "0000420143" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_Y90X" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding" "In vitro (cloned)" "" "" "0" "" "" "g.45333449G>T" "" "NA" "" "0000420144" "0" "50" "1" "45798474" "45798475" "del" "0" "02939" "MUTYH_000209" "g.45798474_45798475delinsCA" "" "{PMID:Livingston 2005:16245934}" "" "16245934_binding_Y82L" "DNA binding assay; gel mobility shift assays; binding to DNA with A:G and A:GO; Y82L MutY compared to WT MutY (E. Coli); Affinity for G:A and GO:A comparable to WT; retained discrimination between G:A and GO:A" "In vitro (cloned)" "" "" "0" "" "" "g.45332802_45332803delinsCA" "" "NA" "" "0000420145" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Ushijima 2005:15681617}" "" "15681617_glycosylase_G382D" "In vitro glycosylase assay; mMUTYH G365D glycosylase assay; almost completely retained glycosylase activity for A:GO; severely reduced AO:G excising activity compared to WT (WT equal activity for both)" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420146" "0" "90" "1" "45797343" "45797345" "del" "0" "02939" "MUTYH_000208" "g.45797343_45797345delinsAGC" "" "{PMID:Ushijima 2005:15681617}" "" "15681617_glycosylase_R378A" "In vitro glycosylase assay; mMUTYH R361A glycosylase assay; almost completely retained glycosylase activity for A:GO; severely reduced AO:G excising activity compared to WT (WT equal activity for both)" "In vitro (cloned)" "" "" "0" "" "" "g.45331671_45331673delinsAGC" "" "NA" "" "0000420147" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Pope 2004:15661655}" "" "15661655_APE1_Y165C" "In vitro glycosylase assay; mMUTYH Y150C function stimulation by APE1 (apurinic/apyrimidinic endonuclease, function: processing mutagenic AP-site after adenine removal); apurinic/apyrimidinic endonuclease (Ape1) nearly completely inhibited adenine removal from an OG:A containing substrate, unlike WT, where Ape1 stimulated adenine removal" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420148" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Pope 2004:15661655}" "" "15661655_APE1_G382D" "In vitro glycosylase assay; mMUTYH G365D function stimulation by APE1 (apurinic/apyrimidinic endonuclease, function: processing mutagenic AP-site after adenine removal); apurinic/apyrimidinic endonuclease (Ape1) stimulated adenine removal from an OG:A containing substrate, but two-fold reduced compared to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420149" "0" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "" "{PMID:Chen 2008:18811933}" "" "18811933_test_53" "In vivo localization assay; Immunofluorescense; cDNAs with c.53C>T+c.74G>A, c.53C>T, c.74G>A or WT (Flag-tagged + polyclonal anti-Flag); transfection cos-7 cells; subcellular localizations; c.53C>T+c.74G>A: nucleus+mitochondria; c.53C>T only: mitochondria; c.74G>A only: mitochondria; wild-type: mitochondria" "In vitro (cloned)" "" "" "0" "" "" "g.45334495G>A" "" "NA" "" "0000420150" "0" "50" "1" "45800167" "45800167" "subst" "0.00103553" "02939" "MUTYH_000024" "g.45800167G>A" "" "{PMID:Chen 2008:18811933}" "" "18811933_test_53_74" "In vivo localization assay; Immunofluorescense; cDNAs with c.53C>T+c.74G>A, c.53C>T, c.74G>A or WT (Flag-tagged + polyclonal anti-Flag); transfection cos-7 cells; subcellular localizations; c.53C>T+c.74G>A: nucleus+mitochondria; c.53C>T only: mitochondria; c.74G>A only: mitochondria; wild-type: mitochondria" "In vitro (cloned)" "" "" "0" "" "" "g.45334495G>A" "" "NA" "" "0000420151" "0" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "" "{PMID:Chen 2008:18811933}" "" "18811933_test_53_74" "In vivo localization assay; Immunofluorescense; cDNAs with c.53C>T+c.74G>A, c.53C>T, c.74G>A or WT (Flag-tagged + polyclonal anti-Flag); transfection cos-7 cells; subcellular localizations; c.53C>T+c.74G>A: nucleus+mitochondria; c.53C>T only: mitochondria; c.74G>A only: mitochondria; wild-type: mitochondria" "In vitro (cloned)" "" "" "0" "" "" "g.45334474C>T" "" "NA" "" "0000420152" "0" "50" "1" "45800146" "45800146" "subst" "0.00103547" "02939" "MUTYH_000026" "g.45800146C>T" "" "{PMID:Chen 2008:18811933}" "" "18811933_test_74" "In vivo localization assay; Immunofluorescense; cDNAs with c.53C>T+c.74G>A, c.53C>T, c.74G>A or WT (Flag-tagged + polyclonal anti-Flag); transfection cos-7 cells; subcellular localizations; c.53C>T+c.74G>A: nucleus+mitochondria; c.53C>T only: mitochondria; c.74G>A only: mitochondria; wild-type: mitochondria" "In vitro (cloned)" "" "" "0" "" "" "g.45334474C>T" "" "NA" "" "0000420153" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Hirano 2003:12917422}" "" "12917422_glycosylase_G396D" "In vitro glycosylase assay; Adenine glycosylase assay mouse G365D mMUTYH compared to WT mMUTYH; comparable adenine glycosylase activity to WT mMUTYH" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420154" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Chmiel 2003:12628248}" "" "12628248_conservation_G396D" "In silico analysis; Evolutionary amino acid conservation, multiple sequence alignment; Conserved in E. Coli, Mouse, S. Pombe; not in MutT and MTH1" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420155" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Chmiel 2003:12628248}" "" "12628248_conservation_Y179C" "In silico analysis; Evolutionary amino acid conservation, multiple sequence alignment; Conserved in E. Coli, Mouse, S. Pombe; not in other E. Coli BER protein AlkA" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420156" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_binding_Q324H" "DNA binding assay; gel mobility shift; DNA binding; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; Considered as wild-type hMUTYH" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420157" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_western_Q324H" "Expression assay; Western blot; hMUTYH cloned by RT-PCR from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; Considered as wild-type hMUTYH" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420158" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_glycosylase_Q324H" "In vitro glycosylase assay; Adenine glycosylase assay; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; Considered as wild-type hMUTYH; glycosylase activity comparable to wild-type E.Coli MutY" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420159" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Pope 2004:15661655}" "" "15661655_glycosylase_Y165C" "In vitro glycosylase assay; mouse MUTYH equivalent Y150C; Glycosylase assay OG:A and G:A containing substrates; decrease in rate of adenine removal from OG:A and G:A containing substrates, compared to WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420160" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Molatore 2009:19953527}" "" "19953527_536_vitro" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; Devoid of detectable glycosylase activity" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420161" "0" "70" "1" "45798458" "45798458" "subst" "1.21817E-5" "02939" "MUTYH_000190" "g.45798458G>A" "" "{PMID:Molatore 2009:19953527}" "" "19953527_553_vitro" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; Devoid of detectable glycosylase activity" "In vitro (cloned)" "" "" "0" "" "" "g.45332786G>A" "" "NA" "" "0000420162" "0" "70" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Molatore 2009:19953527}" "" "19953527_1437_1439_vitro" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; Devoid of detectable glycosylase activity" "In vitro (cloned)" "" "" "0" "" "" "g.45331223_45331225del" "" "NA" "" "0000420163" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wooden 2004:15036665}" "" "15036665_western_G382D_Q324H" "Expression assay; Western blot; hMUTYH cloned by RT-PCR from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; Expression ~equal to wild-type" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420164" "0" "90" "1" "45798145" "45798145" "subst" "0" "02939" "MUTYH_000043" "g.45798145C>T" "" "{PMID:Wooden 2004:15036665}" "" "15036665_western_D222N_Q324H" "Expression assay; Western blot; hMUTYH cloned by RT-PCR from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; Expression ~equal to wild-type" "In vitro (cloned)" "" "" "0" "" "" "g.45332473C>T" "" "NA" "" "0000420165" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wooden 2004:15036665}" "" "15036665_western_Y165C_Q324H" "Expression assay; Western blot; hMUTYH cloned by RT-PCR from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; Expression ~equal to wild-type" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420166" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "00640" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Goto 2010:20848659}" "" "20848659_ P377L" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective" "In vitro (cloned)" "" "" "0" "" "" "g.45331529G>A" "" "NA" "" "0000420167" "0" "70" "1" "45799144" "45799144" "subst" "1.21819E-5" "00640" "MUTYH_000029" "g.45799144G>A" "" "{PMID:Goto 2010:20848659}" "" "20848659_ R69X" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective" "In vitro (cloned)" "" "" "0" "" "" "g.45333472G>A" "" "NA" "" "0000420168" "0" "70" "1" "45797356" "45797356" "subst" "0" "00640" "MUTYH_000071" "g.45797356A>G" "" "{PMID:Goto 2010:20848659}" "" "20848659_L360P" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; extremely severely defective" "In vitro (cloned)" "" "" "0" "" "" "g.45331684A>G" "" "NA" "" "0000420169" "0" "50" "1" "45795084" "45795084" "subst" "0.00839094" "00640" "MUTYH_000094" "g.45795084G>A" "" "{PMID:Goto 2010:20848659}" "" "20848659_ S487F" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; glycosylase activity as wildtyp" "In vitro (cloned)" "" "" "0" "" "" "g.45329412G>A" "" "NA" "" "0000420170" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "00640" "MUTYH_000019" "g.45797846G>A" "" "{PMID:Goto 2010:20848659}" "" "20848659_R281C" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; glycosylase activity as wildtype" "In vitro (cloned)" "" "" "0" "" "" "g.45332174G>A" "" "NA" "" "0000420171" "0" "70" "1" "45798773" "45798778" "dup" "0" "02939" "MUTYH_000037" "g.45798773_45798778dup" "" "{PMID:Molatore 2009:19953527}" "" "19953527_453_458_vitro" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; Glycosylase activity 35% of wild-type" "In vitro (cloned)" "" "" "0" "" "" "g.45333101_45333106dup" "" "NA" "" "0000420172" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "00640" "MUTYH_000109" "g.45797401G>A" "" "{PMID:Goto 2010:20848659}" "" "20848659_A345V" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; glycosylase activity as wildtype" "In vitro (cloned)" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "NA" "" "0000420173" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_V22M" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; glycosylase activity for GO:A similar to WT" "In vitro (cloned)" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "NA" "" "0000420174" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_Q324H" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; glycosylase activity for GO:A similar to WT, but slower" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420175" "0" "70" "1" "45798773" "45798778" "dup" "0" "02939" "MUTYH_000037" "g.45798773_45798778dup" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c453_458_glycosylase" "In vitro glycosylase assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; glycosylase activity partially reduced" "In vitro (cloned)" "" "" "0" "" "" "g.45333101_45333106dup" "" "NA" "" "0000420176" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c1187_glycosylase" "In vitro glycosylase assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; glycosylase activity partially reduced" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420177" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Molatore 2009:19953527}" "" "19953527_1187_vitro" "In vitro functional assay; In vitro glycosylase activity of mutant MUTYH (fusion-protein) on an 8-oxodG:A containing DNA substrate; Glycosylase activity similar to wild-type" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420178" "0" "70" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c1437_1439_glycosylase" "In vitro glycosylase assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; glycosylase activity totally abrogated" "In vitro (cloned)" "" "" "0" "" "" "g.45331223_45331225del" "" "NA" "" "0000420179" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c536_glycosylase" "In vitro glycosylase assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; glycosylase activity totally abrogated" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420180" "0" "70" "1" "45798458" "45798458" "subst" "1.21817E-5" "02939" "MUTYH_000190" "g.45798458G>A" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c553_glycosylase" "In vitro glycosylase assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; glycosylase activity totally abrogated" "In vitro (cloned)" "" "" "0" "" "" "g.45332786G>A" "" "NA" "" "0000420181" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02939" "MUTYH_000077" "g.45797201G>A" "" "{PMID:Kanter-Smoler 2006:16616356}" "" "16616356_1214_structure" "In silico analysis; In silico structure/conservation analysis; Highly conserved position; from a protein folding perspective likely to destabilyze the NUDIX domain" "In vitro (cloned)" "" "" "0" "" "" "g.45331529G>A" "" "NA" "" "0000420182" "0" "70" "1" "45798773" "45798778" "dup" "0" "02939" "MUTYH_000037" "g.45798773_45798778dup" "" "{PMID:Molatore 2009:19953527}" "" "19953527_453_458_survival" "In vivo cell survival assay; Cell survival after induced oxidative stress; hypersensitivity to toxic agent effect and decreased survival capability compared to WT" "In vitro (cloned)" "" "" "0" "" "" "g.45333101_45333106dup" "" "NA" "" "0000420183" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Molatore 2009:19953527}" "" "19953527_536_survival" "In vivo cell survival assay; Cell survival after induced oxidative stress; hypersensitivity to toxic agent effect and decreased survival capability compared to WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420184" "0" "70" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:Molatore 2009:19953527}" "" "19953527_1437_1439_survival" "In vivo cell survival assay; Cell survival after induced oxidative stress; hypersensitivity to toxic agent effect and decreased survival capability compared to WT" "In vitro (cloned)" "" "" "0" "" "" "g.45331223_45331225del" "" "NA" "" "0000420185" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Molatore 2009:19953527}" "" "19953527_1187_survival" "In vivo cell survival assay; Cell survival after induced oxidative stress; hypersensitivity to toxic agent effect and decreased survival capability compared to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420186" "0" "70" "1" "45798458" "45798458" "subst" "1.21817E-5" "02939" "MUTYH_000190" "g.45798458G>A" "" "{PMID:Molatore 2009:19953527}" "" "19953527_553_survival" "In vivo cell survival assay; Cell survival after induced oxidative stress; hypersensitivity to toxic agent effect and decreased survival capability compared to WT; more pronounced compared to other tested variants" "In vitro (cloned)" "" "" "0" "" "" "g.45332786G>A" "" "NA" "" "0000420187" "0" "90" "1" "45797914" "45797914" "subst" "2.44089E-5" "02939" "MUTYH_000191" "g.45797914C>T" "" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "18422726_mouse_G257E" "In vitro functional assay; Glycosylase assay; Impaired" "In vitro (cloned)" "" "" "0" "" "" "g.45332242C>T" "" "NA" "" "0000420188" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "02939" "MUTYH_000050" "g.45798130G>A" "" "{PMID:Bai 2005:15673720} determine effect of variant from {PMID:Fleischmann 2004:14991577}" "" "15673720_227_silico" "In silico analysis; Multiple sequence alignment (Clustal W); in alpha helix; arginine (positive charge) conserved in mouse, fission yeast, E.coli and B.stearothermophilus; tryptophan (reduced positive charge) may influence interaction with DNA" "In vitro (cloned)" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "NA" "" "0000420189" "0" "90" "1" "45798115" "45798115" "subst" "5.70395E-5" "02939" "MUTYH_000053" "g.45798115C>A" "" "{PMID:Bai 2005:15673720} determine effect of variant from {PMID:Sieber 2003:12606733}" "" "15673720_227_silico" "In silico analysis; Multiple sequence alignment (Clustal W); in alpha helix; mouse: val, fission yeast: ala, E.coli:cys, B.stearothermophilus: leu; phe has bulky side chain, may disrupt alignment of ironñsulfur cluster loop and affect DNA binding/catalysis." "In vitro (cloned)" "" "" "0" "" "" "g.45332443C>A" "" "NA" "" "0000420190" "0" "90" "1" "45798145" "45798145" "subst" "0" "02939" "MUTYH_000043" "g.45798145C>T" "" "{PMID:Ushijima 2005:15681617}" "" "15681617_binding_D222N" "In vitro glycosylase assay; mMUTYH D207N gel mobility shift assay, binding to A:OG and AO:G; Like WT: stable complex formed with OG:A and AO:GO, but no complex with AO:G, A:G, AO:T or AO:C" "In vitro (cloned)" "" "" "0" "" "" "g.45332473C>T" "" "NA" "" "0000420191" "0" "90" "1" "45798445" "45798445" "subst" "4.06055E-6" "02939" "MUTYH_000042" "g.45798445C>T" "" "{PMID:Kanter-Smoler 2006:16616356}" "" "16616356_566_structure" "In silico analysis; In silico structure/conservation analysis; Likely severe structural perturbation of protein; in N-terminal turn-helix domain in alpha helix promoting DNA binding; from small (highly conserved) uncharged amino acid to large negatively charged" "In vitro (cloned)" "" "" "0" "" "" "g.45332773C>T" "" "NA" "" "0000420192" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_G382D" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420193" "0" "90" "1" "45798145" "45798145" "subst" "0" "02939" "MUTYH_000043" "g.45798145C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_D222N" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "" "0" "" "" "g.45332473C>T" "" "NA" "" "0000420194" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02939" "MUTYH_000018" "g.45797887G>A" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_P281L" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "" "0" "" "" "g.45332215G>A" "" "NA" "" "0000420195" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_1103delC" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "" "0" "" "" "g.45331702del" "" "NA" "" "0000420196" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_Q324H" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420197" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "02939" "MUTYH_000051" "g.45798117C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_R231H" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "" "0" "" "" "g.45332445C>T" "" "NA" "" "0000420198" "0" "50" "1" "45797950" "45797950" "subst" "0.000171457" "02939" "MUTYH_000055" "g.45797950C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_R260Q" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "" "0" "" "" "g.45332278C>T" "" "NA" "" "0000420199" "0" "50" "1" "45800156" "45800156" "subst" "0.0487424" "02939" "MUTYH_000005" "g.45800156C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_V22M" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "NA" "" "0000420200" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_Y165C" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420201" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02939" "MUTYH_000072" "g.45797348G>A" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_Q377X" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "" "0" "" "" "g.45331676G>A" "" "NA" "" "0000420202" "0" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "02939" "MUTYH_000088" "g.45796892C>A" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_Q466X" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "" "0" "" "" "g.45331220C>A" "" "NA" "" "0000420203" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02939" "MUTYH_000032" "g.45799121G>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_protein_Y90X" "Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed" "In vitro (cloned)" "" "" "0" "" "" "g.45333449G>T" "" "NA" "" "0000420204" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Parker 2005:15987719}" "" "15987719_RNA_G396D_1147del" "RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT" "In vitro (cloned)" "" "" "0" "" "" "g.45331702del" "" "NA" "" "0000420205" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_RNA_G396D" "RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420206" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_RNA_G396D" "RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420207" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_RNA_G396D_1147del" "RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420208" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_RNA_Y179C_G396D" "RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420209" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_RNA_Y179C_G396D" "RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420210" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_RNA_Y179C" "RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420211" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_RNA_Y179C" "RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420212" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wooden 2004:15036665}" "" "15036665_binding_Y165C_Q324H" "DNA binding assay; gel mobility shift; DNA binding; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; no binding on duplex DNA with A:8oxoG or A:G mispairs" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420213" "0" "50" "1" "45795034" "45795034" "subst" "0" "02939" "MUTYH_000206" "g.45795034A>C" "" "{PMID:Hirano 2003:12917422}" "" "12917422_binding_F532A_F533A" "PCNA binding assay; mMUTYH containing 500/501FF changed to 500/501AA; PCNA pull down assay; No binding to PCNA (WT mMUTYH binds to PCNA)" "In vitro (cloned)" "" "" "0" "" "" "g.45329362A>C" "" "NA" "" "0000420214" "0" "50" "1" "45795031" "45795031" "subst" "0" "02939" "MUTYH_000207" "g.45795031A>C" "" "{PMID:Hirano 2003:12917422}" "" "12917422_binding_F532A_F533A" "PCNA binding assay; mMUTYH containing 500/501FF changed to 500/501AA; PCNA pull down assay; No binding to PCNA (WT mMUTYH binds to PCNA)" "In vitro (cloned)" "" "" "0" "" "" "g.45329359A>C" "" "NA" "" "0000420215" "0" "90" "1" "45798145" "45798145" "subst" "0" "02939" "MUTYH_000043" "g.45798145C>T" "" "{PMID:Wooden 2004:15036665}" "" "15036665_glycosylase_D222N_Q324H" "In vitro glycosylase assay; Adenine glycosylase assay; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; No glycosylase activity (for both OG:A and G:A)" "In vitro (cloned)" "" "" "0" "" "" "g.45332473C>T" "" "NA" "" "0000420216" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wooden 2004:15036665}" "" "15036665_glycosylase_G382D_Q324H" "In vitro glycosylase assay; Adenine glycosylase assay; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; No glycosylase activity (for both OG:A and G:A)" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420217" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Wooden 2004:15036665}" "" "15036665_glycosylase_Y165C_Q324H" "In vitro glycosylase assay; Adenine glycosylase assay; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; No glycosylase activity (for both OG:A and G:A)" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420218" "0" "90" "1" "45798145" "45798145" "subst" "0" "02939" "MUTYH_000043" "g.45798145C>T" "" "{PMID:Ushijima 2005:15681617}" "" "15681617_glycosylase_D222N" "In vitro glycosylase assay; mMUTYH D207N glycosylase assay; no glycosylase activity on A:GO or AO:G containing substrates (WT equal activity for both)" "In vitro (cloned)" "" "" "0" "" "" "g.45332473C>T" "" "NA" "" "0000420219" "0" "50" "1" "45799209" "45799209" "subst" "0" "00640" "MUTYH_000028" "g.45799209A>T" "" "{PMID:Goto 2010:20848659}" "" "20848659_V47E" "in vitro assay; in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; no reduced activity" "In vitro (cloned)" "" "" "0" "" "" "g.45333537A>T" "" "NA" "" "0000420220" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Parker 2005:15987719}" "" "15987719_survival_G396D_1147del" "In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT" "In vitro (cloned)" "" "" "0" "" "" "g.45331702del" "" "NA" "" "0000420221" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_survival_G396D" "In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420222" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_survival_G396D" "In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420223" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_survival_G396D_1147del" "In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420224" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_survival_Y179C_G396D" "In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420225" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_survival_Y179C_G396D" "In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420226" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_survival_Y179C" "In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420227" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_survival_Y179C" "In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420228" "0" "50" "1" "45798474" "45798475" "del" "0" "02939" "MUTYH_000209" "g.45798474_45798475delinsCA" "" "{PMID:Livingston 2005:16245934}" "" "16245934_glycosylase_Y82L" "In vitro glycosylase assay; Adenine glycosylase assay for G:A and GO:A; Y82L MutY compared to WT MutY (E. Coli); Only slightly reduced for G:A" "In vitro (cloned)" "" "" "0" "" "" "g.45332802_45332803delinsCA" "" "NA" "" "0000420229" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Molatore 2009:19953527}" "" "19953527_536_silico" "In silico analysis; PolyPhen, SIFT, MuPro; Predicted to be pathogenic" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420230" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Molatore 2009:19953527}" "" "19953527_1187_silico" "In silico analysis; PolyPhen, SIFT, MuPro; Predicted to be pathogenic" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420231" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "02939" "MUTYH_000109" "g.45797401G>A" "" "{PMID:Yanaru-Fujisawa 2008:18422726}" "" "18422726_mouse_A341V" "In vitro functional assay; Glycosylase assay; Present" "In vitro (cloned)" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "NA" "" "0000420232" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_western_G396D" "Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Protein levels comparable to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420233" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_western_G396D" "Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Protein levels comparable to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420234" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Chmiel 2003:12628248}" "" "12628248_complementation_Y82C" "In vivo complementation assay; E. coli (MutY/MutM deficient) complementation assay with E. Coli MutY: Y82C (homologue of hMUTYH Y179C); Reduced ability to complement activity of E. coli MutY compared to wild-type E. Coli MutY" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420235" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Hirano 2003:12917422}" "" "12917422_complementation_G396D" "In vivo complementation assay; Mouse mMUTYH deficient embryonic stem cell line complementation assay with mMUTYH containing G365D; Reduced ability to complement activity of mMUTYH, compared to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420236" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Chmiel 2003:12628248}" "" "12628248_glycosylase_G253D" "In vitro glycosylase assay; Adenine glycosylase assay G253D MutY compared to WT MutY; reduced adenine glycosylase activity and reduced ability to recognise oxoG:A (analog); reduced oxoG:A specificity" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420237" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Chmiel 2003:12628248}" "" "12628248_glycosylase_Y82C" "In vitro glycosylase assay; Adenine glycosylase assay Y82C MutY compared to WT MutY; reduced adenine glycosylase activity and reduced ability to recognise oxoG:A (analog); reduced oxoG:A specificity" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420238" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Livingston 2005:16245934}" "" "16245934_binding_G253D" "DNA binding assay; gel mobility shift assays; binding to DNA with A:G and A:GO; G253D MutY compared to WT MutY (E. Coli); Reduced binding affinity for A:G and A:GO containing DNA; reduced discrimination between G and GO" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420239" "0" "50" "1" "45797227" "45797228" "del" "0" "02939" "MUTYH_000211" "g.45797227_45797228delinsTG" "" "{PMID:Livingston 2005:16245934}" "" "16245934_binding_G253A" "DNA binding assay; gel mobility shift assays; binding to DNA with A:G and A:GO; MutY compared to WT MutY (E. Coli); Reduced binding affinity for A:G and A:GO containing DNA; reduced discrimination between G and GO" "In vitro (cloned)" "" "" "0" "" "" "g.45331555_45331556delinsTG" "" "NA" "" "0000420240" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Livingston 2005:16245934}" "" "16245934_binding_Y82C" "DNA binding assay; gel mobility shift assays; binding to DNA with A:G and A:GO; Y82C MutY compared to WT MutY (E. Coli); Reduced binding affinity for A:G and A:GO containing DNA; reduced discrimination between G and GO" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420241" "0" "50" "1" "45798474" "45798475" "del" "0" "02939" "MUTYH_000210" "g.45798474_45798475delinsAA" "" "{PMID:Livingston 2005:16245934}" "" "16245934_binding_Y82F" "DNA binding assay; gel mobility shift assays; binding to DNA with A:G and A:GO; Y82F MutY compared to WT MutY (E. Coli); Reduced binding affinity for A:G and A:GO containing DNA; slightly reduced discrimination between G and GO" "In vitro (cloned)" "" "" "0" "" "" "g.45332802_45332803delinsAA" "" "NA" "" "0000420242" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Livingston 2005:16245934}" "" "16245934_glycosylase_Y82C" "In vitro glycosylase assay; Adenine glycosylase assay for G:A and GO:A; Y82C MutY compared to WT MutY (E. Coli); Reduced for G:A and GO:A; Sensitive to increased NaCl concentration" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420243" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Livingston 2005:16245934}" "" "16245934_glycosylase_G253D" "In vitro glycosylase assay; Adenine glycosylase assay for G:A and GO:A; G253D MutY compared to WT MutY (E. Coli); Reduced for G:A; Also reduced for GO:A at low temperatures" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420244" "0" "50" "1" "45798474" "45798475" "del" "0" "02939" "MUTYH_000210" "g.45798474_45798475delinsAA" "" "{PMID:Livingston 2005:16245934}" "" "16245934_glycosylase_Y82F" "In vitro glycosylase assay; Adenine glycosylase assay for G:A and GO:A; Y82F MutY compared to WT MutY (E. Coli); Reduced for G:A; Also reduced for GO:A at low temperatures" "In vitro (cloned)" "" "" "0" "" "" "g.45332802_45332803delinsAA" "" "NA" "" "0000420245" "0" "50" "1" "45797227" "45797228" "del" "0" "02939" "MUTYH_000211" "g.45797227_45797228delinsTG" "" "{PMID:Livingston 2005:16245934}" "" "16245934_glycosylase_G253A" "In vitro glycosylase assay; Adenine glycosylase assay for G:A and GO:A; G253D MutY compared to WT MutY (E. Coli); Reduced for G:A; Also reduced for GO:A at low temperatures" "In vitro (cloned)" "" "" "0" "" "" "g.45331555_45331556delinsTG" "" "NA" "" "0000420246" "0" "70" "1" "45797924" "45797924" "subst" "4.06964E-6" "00640" "MUTYH_000017" "g.45797924T>C" "" "{PMID:Goto 2010:20848659}" "" "20848659_M255V" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; reduced glycosylase activity to about 10.7% of wildtype" "In vitro (cloned)" "" "" "0" "" "" "g.45332252T>C" "" "NA" "" "0000420247" "0" "70" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Goto 2010:20848659}" "" "20848659_Y151C" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; reduced glycosylase activity to about 4.5% of wildtype" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420248" "0" "70" "1" "45798269" "45798269" "subst" "0.000215279" "00640" "MUTYH_000045" "g.45798269T>C" "" "{PMID:Goto 2010:20848659}" "" "20848659_I195V" "in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; reduced glycosylase activity to about 66.9% of wildtype" "In vitro (cloned)" "" "" "0" "" "" "g.45332597T>C" "" "NA" "" "0000420249" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_western_G396D_1147del" "Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Reduced protein levels (40ñ50% of WT levels); residual protein level probablyfrom G396D allele" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420250" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_western_Y179C_G396D" "Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Reduced protein levels (40ñ50% of WT levels); residual protein level probablyfrom G396D allele" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420251" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_western_Y179C_G396D" "Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Reduced protein levels (40ñ50% of WT levels); residual protein level probablyfrom G396D allele" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420252" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Parker 2005:15987719}" "" "15987719_western_G396D_1147del" "Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Reduced protein levels (40ñ50% of WT levels); unexpectedly, no faster migrating protein band observed; residual protein level probablyfrom G396D allele" "In vitro (cloned)" "" "" "0" "" "" "g.45331702del" "" "NA" "" "0000420253" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_western_Y179C" "Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Reduced protein levels (5ñ10% of WT levels); protein level partly complemented by exogenous WT MUTYH" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420254" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_western_Y179C" "Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Reduced protein levels (5ñ10% of WT levels); protein level partly complemented by exogenous WT MUTYH" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420255" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_G382D" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; reduced substrate binding" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420256" "0" "50" "1" "45797950" "45797950" "subst" "0.000171457" "02939" "MUTYH_000055" "g.45797950C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_R260Q" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; reduced substrate binding" "In vitro (cloned)" "" "" "0" "" "" "g.45332278C>T" "" "NA" "" "0000420257" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Parker 2005:15987719}" "" "15987719_binding_G396D_1147del" "DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 40-50% of WT; residual binding probably from G396D allele" "In vitro (cloned)" "" "" "0" "" "" "g.45331702del" "" "NA" "" "0000420258" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_binding_G396D_1147del" "DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 40-50% of WT; residual binding probably from G396D allele" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420259" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_binding_Y179C_G396D" "DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 40-50% of WT; residual binding probably from G396D allele" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420260" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_binding_Y179C_G396D" "DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 40-50% of WT; residual binding probably from G396D allele" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420261" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_binding_Y179C" "DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 5-10% of WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420262" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_binding_Y179C" "DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 5-10% of WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420263" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_binding_G396D" "DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 70% of WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420264" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_binding_G396D" "DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 70% of WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420265" "0" "50" "1" "45795034" "45795034" "subst" "0" "02939" "MUTYH_000206" "g.45795034A>C" "" "{PMID:Hirano 2003:12917422}" "" "12917422_complementation_F532A_F533A" "In vivo complementation assay; Mouse mMUTYH deficient embryonic stem cell line complementation assay with mMUTYH containing 500/501FF changed to 500/501AA; Retained ability to complement activity of mMUTYH, compared to WT" "In vitro (cloned)" "" "" "0" "" "" "g.45329362A>C" "" "NA" "" "0000420266" "0" "50" "1" "45795031" "45795031" "subst" "0" "02939" "MUTYH_000207" "g.45795031A>C" "" "{PMID:Hirano 2003:12917422}" "" "12917422_complementation_F532A_F533A" "In vivo complementation assay; Mouse mMUTYH deficient embryonic stem cell line complementation assay with mMUTYH containing 500/501FF changed to 500/501AA; Retained ability to complement activity of mMUTYH, compared to WT" "In vitro (cloned)" "" "" "0" "" "" "g.45329359A>C" "" "NA" "" "0000420267" "0" "70" "1" "45796895" "45796897" "del" "0" "02939" "MUTYH_000086" "g.45796895_45796897del" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c1437_1439_binding" "In vitro DNA binding assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; severe reduction in the binding affinity" "In vitro (cloned)" "" "" "0" "" "" "g.45331223_45331225del" "" "NA" "" "0000420268" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c536_binding" "In vitro DNA binding assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; severe reduction in the binding affinity" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420269" "0" "70" "1" "45798458" "45798458" "subst" "1.21817E-5" "02939" "MUTYH_000190" "g.45798458G>A" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c553_binding" "In vitro DNA binding assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; severe reduction in the binding affinity" "In vitro (cloned)" "" "" "0" "" "" "g.45332786G>A" "" "NA" "" "0000420270" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Chmiel 2003:12628248}" "" "12628248_complementation_G396D" "In vivo complementation assay; E. Coli (MutY/MutM deficient) complementation assay with hMUTYH containing G396D; Severely reduced ability to complement activity of E. coli MutY compared to wild-type human MUTYH" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420271" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Chmiel 2003:12628248}" "" "12628248_complementation_Y179C" "In vivo complementation assay; E. Coli (MutY/MutM deficient) complementation assay with hMUTYH containing Y179C; Severely reduced ability to complement activity of E. coli MutY compared to wild-type human MUTYH" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420272" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Pope 2004:15661655}" "" "15661655_binding_G382D" "DNA binding assay; gel mobility shift assays; DNA binding; mMUTYH G365D; significantly decreased affinity for non-cleavabel substrates" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420273" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Pope 2004:15661655}" "" "15661655_binding_Y165C" "DNA binding assay; gel mobility shift assays; DNA binding; mMUTYH Y150C; significantly decreased affinity for non-cleavabel substrates" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420274" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Wooden 2004:15036665}" "" "15036665_binding_G382D_Q324H" "DNA binding assay; gel mobility shift; DNA binding; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H; significantly reduced affinity for duplex DNA with A:8oxoG mispairs" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420275" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Pope 2004:15661655}" "" "15661655_glycosylase_G382D" "In vitro glycosylase assay; mouse MUTYH equivalent G365D; Glycosylase assay OG:A and G:A containing substrates; similare rate of adenine removal from OG:A containing substrates; decreased rate of adenine removal from G:A containing substrates, compared to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420276" "0" "70" "1" "45798773" "45798778" "dup" "0" "02939" "MUTYH_000037" "g.45798773_45798778dup" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c453_458_binding" "In vitro DNA binding assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; slight decrease binding affinity, mainly due to slower rate of association" "In vitro (cloned)" "" "" "0" "" "" "g.45333101_45333106dup" "" "NA" "" "0000420277" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:D Agostino 2010:20418187}" "" "20418187_c1187_binding" "In vitro DNA binding assay; Expression human proteins, bacteria, glycosylase assay 8-oxoG:A; Surface plasmon resonance (SPR) real-time recording association/dissociation; slight decrease binding affinity, mainly due to slower rate of association" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420278" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_glycosylase_Y179C" "In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and AO:G glycosylase activity in comparison to WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420279" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_glycosylase_Y179C" "In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and AO:G glycosylase activity in comparison to WT" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420280" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_glycosylase_G396D" "In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and somewhat reduced AO:G glycosylase activity in comparison to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420281" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_glycosylase_G396D" "In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and somewhat reduced AO:G glycosylase activity in comparison to WT" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420282" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Parker 2005:15987719}" "" "15987719_glycosylase_G396D_1147del" "In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and somewhat reduced AO:G glycosylase activity in comparison to WT; residual activity probably from G396D allele" "In vitro (cloned)" "" "" "0" "" "" "g.45331702del" "" "NA" "" "0000420283" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_glycosylase_G396D_1147del" "In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and somewhat reduced AO:G glycosylase activity in comparison to WT; residual activity probably from G396D allele" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420284" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_glycosylase_Y179C_G396D" "In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and somewhat reduced AO:G glycosylase activity in comparison to WT; residual activity probably from G396D allele" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420285" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_glycosylase_Y179C_G396D" "In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and somewhat reduced AO:G glycosylase activity in comparison to WT; residual activity probably from G396D allele" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420286" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_G382D" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; strongly reduced glycosylase activity for GO:A" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420287" "0" "50" "1" "45797950" "45797950" "subst" "0.000171457" "02939" "MUTYH_000055" "g.45797950C>T" "" "{PMID:Ali 2008:18534194}" "" "18534194_glycosylase_R260Q" "In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; strongly reduced glycosylase activity for GO:A" "In vitro (cloned)" "" "" "0" "" "" "g.45332278C>T" "" "NA" "" "0000420288" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Ali 2008:18534194}" "" "18534194_binding_Q324H" "DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; substrate binding similar to WT" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420289" "0" "90" "1" "45797374" "45797374" "del" "0" "02939" "MUTYH_000069" "g.45797374del" "" "{PMID:Parker 2005:15987719}" "" "15987719_complementation_G396D_1147del" "In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line)" "In vitro (cloned)" "" "" "0" "" "" "g.45331702del" "" "NA" "" "0000420290" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_complementation_G396D" "In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line)" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420291" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_complementation_G396D" "In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line)" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420292" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_complementation_G396D_1147del" "In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line)" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420293" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02939" "MUTYH_000075" "g.45797228C>T" "" "{PMID:Parker 2005:15987719}" "" "15987719_complementation_Y179C_G396D" "In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line)" "In vitro (cloned)" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "NA" "" "0000420294" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_complementation_Y179C_G396D" "In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line)" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420295" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_complementation_Y179C" "In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line)" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420296" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02939" "MUTYH_000012" "g.45798475T>C" "" "{PMID:Parker 2005:15987719}" "" "15987719_complementation_Y179C" "In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line)" "In vitro (cloned)" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "NA" "" "0000420297" "0" "70" "1" "45798246" "45798246" "subst" "4.06266E-6" "02939" "MUTYH_000194" "g.45798246C>T" "" "{PMID:Dallosso 2008:18515411}" "" "18515411_Q227" "cDNA analysis; aberrant splicing" "In vitro (cloned)" "" "" "0" "" "" "g.45332574C>T" "" "NA" "" "0000420298" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02939" "MUTYH_000097" "g.45797835T>G" "" "{PMID:Kanter-Smoler 2006:16616356}" "" "16616356_933_3_RT_PCR" "cDNA analysis; Skipping exon 10" "In vitro (cloned)" "" "" "0" "" "" "g.45332163T>G" "" "NA" "" "0000420299" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_binding_G382D_Q324H" "DNA binding assay; gel mobility shift; DNA binding; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420300" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_binding_Y165C_Q324H" "DNA binding assay; gel mobility shift; DNA binding; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420301" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_western_G382D_Q324H" "Expression assay; Western blot; hMUTYH cloned by RT-PCR from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420302" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_western_D222N_Q324H" "Expression assay; Western blot; hMUTYH cloned by RT-PCR from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420303" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_western_Y165C_Q324H" "Expression assay; Western blot; hMUTYH cloned by RT-PCR from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420304" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_glycosylase_D222N_Q324H" "In vitro glycosylase assay; Adenine glycosylase assay; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420305" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_glycosylase_G382D_Q324H" "In vitro glycosylase assay; Adenine glycosylase assay; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420306" "0" "50" "1" "45797505" "45797505" "subst" "0.289123" "02939" "MUTYH_000063" "g.45797505C>G" "" "{PMID:Wooden 2004:15036665}" "" "15036665_glycosylase_Y165C_Q324H" "In vitro glycosylase assay; Adenine glycosylase assay; hMUTYH cloned from total RNA human embryonic muscle/skin cells (HEMS); site directed mutagenesis; clone: 338H" "In vitro (cloned)" "" "rs3219489" "0" "" "" "g.45331833C>G" "" "NA" "" "0000420307" "0" "50" "1" "45806432" "45806432" "subst" "0" "02939" "MUTYH_000244" "g.45806432C>T" "" "" "" "" "" "Germline" "" "rs3219463" "0" "" "" "g.45340760C>T" "" "VUS" "" "0000420308" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "00640" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000420309" "0" "50" "1" "45805061" "45805061" "subst" "0" "02939" "MUTYH_000233" "g.45805061C>T" "" "" "" "" "" "Germline" "" "rs1140199" "0" "" "" "g.45339389C>T" "" "VUS" "" "0000420310" "0" "50" "1" "45805044" "45805044" "subst" "0" "02939" "MUTYH_000235" "g.45805044A>G" "" "" "" "" "" "Germline" "" "rs1140200" "0" "" "" "g.45339372A>G" "" "VUS" "" "0000420311" "0" "50" "1" "45805039" "45805039" "subst" "0" "02939" "MUTYH_000236" "g.45805039T>C" "" "" "" "" "" "Germline" "" "rs1140201" "0" "" "" "g.45339367T>C" "" "VUS" "" "0000420312" "0" "50" "1" "45805837" "45805837" "subst" "0" "02939" "MUTYH_000230" "g.45805837C>T" "" "" "" "" "" "Germline" "" "rs17838009" "0" "" "" "g.45340165C>T" "" "VUS" "" "0000420313" "0" "50" "1" "45806009" "45806009" "subst" "6.18282E-5" "02939" "MUTYH_000229" "g.45806009C>T" "" "" "" "" "" "Germline" "" "rs28372898" "0" "" "" "g.45340337C>T" "" "VUS" "" "0000420314" "0" "50" "1" "45805413" "45805413" "subst" "0" "02939" "MUTYH_000231" "g.45805413G>C" "" "" "" "" "" "Germline" "" "rs3219469" "0" "" "" "g.45339741G>C" "" "VUS" "" "0000420315" "0" "50" "1" "45805170" "45805170" "subst" "0" "02939" "MUTYH_000232" "g.45805170G>A" "" "" "" "" "" "Germline" "" "rs3219470" "0" "" "" "g.45339498G>A" "" "VUS" "" "0000420316" "0" "50" "1" "45802670" "45802670" "subst" "0" "02939" "MUTYH_000245" "g.45802670A>C" "" "" "" "" "" "Germline" "" "rs3219476" "0" "" "" "g.45336998A>C" "" "VUS" "" "0000420317" "0" "50" "1" "45804899" "45804899" "dup" "0" "02939" "MUTYH_000237" "g.45804899dup" "" "" "" "" "" "Germline" "" "rs60609540" "0" "" "" "g.45339227dup" "" "VUS" "" "0000420318" "0" "50" "1" "45805046" "45805046" "subst" "0" "02939" "MUTYH_000234" "g.45805046C>G" "" "" "" "" "" "Germline" "" "rs6696152" "0" "" "" "g.45339374C>G" "" "VUS" "" "0000420319" "0" "50" "1" "45804423" "45804424" "ins" "0" "02939" "MUTYH_000293" "g.45804423_45804424insGT" "" "" "" "" "" "Germline" "" "rs10638672" "0" "" "" "g.45338751_45338752insGT" "" "VUS" "" "0000420320" "0" "50" "1" "45795545" "45795545" "subst" "0" "02939" "MUTYH_000315" "g.45795545C>T" "" "" "" "" "" "Germline" "" "rs10890325" "0" "" "" "g.45329873C>T" "" "VUS" "" "0000420321" "0" "50" "1" "45804426" "45804426" "dup" "0" "02939" "MUTYH_000290" "g.45804426dup" "" "" "" "" "" "Germline" "" "rs11403361" "0" "" "" "g.45338754dup" "" "VUS" "" "0000420322" "0" "50" "1" "45801930" "45801930" "subst" "0" "02939" "MUTYH_000305" "g.45801930A>G" "" "" "" "" "" "Germline" "" "rs28871870" "0" "" "" "g.45336258A>G" "" "VUS" "" "0000420323" "0" "50" "1" "45804089" "45804089" "subst" "0" "02939" "MUTYH_000295" "g.45804089C>T" "" "" "" "" "" "Germline" "" "rs3219471" "0" "" "" "g.45338417C>T" "" "VUS" "" "0000420324" "0" "50" "1" "45803946" "45803946" "subst" "0" "02939" "MUTYH_000297" "g.45803946G>A" "" "" "" "" "" "Germline" "" "rs3219473" "0" "" "" "g.45338274G>A" "" "VUS" "" "0000420325" "0" "50" "1" "45803413" "45803413" "subst" "0" "02939" "MUTYH_000299" "g.45803413A>G" "" "" "" "" "" "Germline" "" "rs3219474" "0" "" "" "g.45337741A>G" "" "VUS" "" "0000420326" "0" "50" "1" "45803117" "45803117" "subst" "0" "02939" "MUTYH_000300" "g.45803117C>T" "" "" "" "" "" "Germline" "" "rs3219475" "0" "" "" "g.45337445C>T" "" "VUS" "" "0000420327" "0" "50" "1" "45802322" "45802322" "subst" "0" "02939" "MUTYH_000302" "g.45802322A>G" "" "" "" "" "" "Germline" "" "rs3219477" "0" "" "" "g.45336650A>G" "" "VUS" "" "0000420328" "0" "50" "1" "45802185" "45802185" "subst" "0" "02939" "MUTYH_000303" "g.45802185A>G" "" "" "" "" "" "Germline" "" "rs3219478" "0" "" "" "g.45336513A>G" "" "VUS" "" "0000420329" "0" "50" "1" "45801981" "45801981" "subst" "0" "02939" "MUTYH_000304" "g.45801981C>T" "" "" "" "" "" "Germline" "" "rs3219480" "0" "" "" "g.45336309C>T" "" "VUS" "" "0000420330" "0" "50" "1" "45801257" "45801257" "subst" "0" "02939" "MUTYH_000307" "g.45801257G>A" "" "" "" "" "" "Germline" "" "rs3219481" "0" "" "" "g.45335585G>A" "" "VUS" "" "0000420331" "0" "50" "1" "45801223" "45801223" "subst" "0" "02939" "MUTYH_000308" "g.45801223T>C" "" "" "" "" "" "Germline" "" "rs3219482" "0" "" "" "g.45335551T>C" "" "VUS" "" "0000420332" "0" "50" "1" "45801198" "45801198" "subst" "0" "02939" "MUTYH_000309" "g.45801198T>C" "" "" "" "" "" "Germline" "" "rs3219483" "0" "" "" "g.45335526T>C" "" "VUS" "" "0000420333" "0" "50" "1" "45804329" "45804329" "dup" "0" "02939" "MUTYH_000294" "g.45804329dup" "" "" "" "" "" "Germline" "" "rs34686049" "0" "" "" "g.45338657dup" "" "VUS" "" "0000420334" "0" "50" "1" "45800273" "45800273" "dup" "0" "02939" "MUTYH_000310" "g.45800273dup" "" "" "" "" "" "Germline" "" "rs35203418" "0" "" "" "g.45334601dup" "" "VUS" "" "0000420335" "0" "50" "1" "45804424" "45804425" "ins" "0" "02939" "MUTYH_000292" "g.45804424_45804425insGT" "" "" "" "" "" "Germline" "" "rs35518179" "0" "" "" "g.45338752_45338753insGT" "" "VUS" "" "0000420336" "0" "50" "1" "45803947" "45803947" "dup" "0" "02939" "MUTYH_000296" "g.45803947dup" "" "" "" "" "" "Germline" "" "rs35804643" "0" "" "" "g.45338275dup" "" "VUS" "" "0000420337" "0" "50" "1" "45796848" "45796848" "subst" "0" "02939" "MUTYH_000312" "g.45796848T>G" "" "" "" "" "" "Germline" "" "rs4660848" "0" "" "" "g.45331176T>G" "" "VUS" "" "0000420338" "0" "50" "1" "45795923" "45795924" "del" "0" "02939" "MUTYH_000313" "g.45795923_45795924del" "" "" "" "" "" "Germline" "" "rs61347720" "0" "" "" "g.45330251_45330252del" "" "VUS" "" "0000420339" "0" "50" "1" "45802836" "45802836" "subst" "0" "02939" "MUTYH_000301" "g.45802836G>T" "" "" "" "" "" "Germline" "" "rs61789858" "0" "" "" "g.45337164G>T" "" "VUS" "" "0000420340" "0" "50" "1" "45804426" "45804426" "dup" "0" "02939" "MUTYH_000290" "g.45804426dup" "" "" "" "" "" "Germline" "" "rs63261960" "0" "" "" "g.45338754dup" "" "VUS" "" "0000420341" "0" "50" "1" "0" "0" "" "0" "02939" "MUTYH_000314" "g.?" "" "" "" "" "" "Germline" "" "rs68008538" "0" "" "" "" "" "VUS" "" "0000420342" "0" "50" "1" "45794616" "45794616" "dup" "0" "02939" "MUTYH_000317" "g.45794616dup" "" "" "" "" "" "Germline" "" "rs71052867" "0" "" "" "g.45328944dup" "" "VUS" "" "0000420343" "0" "50" "1" "45804427" "45804428" "del" "0" "02939" "MUTYH_000291" "g.45804427_45804428del" "" "" "" "" "" "Germline" "" "rs71667141" "0" "" "" "g.45338755_45338756del" "" "VUS" "" "0000420344" "0" "50" "1" "45803540" "45803540" "subst" "0" "02939" "MUTYH_000298" "g.45803540G>A" "" "" "" "" "" "Germline" "" "rs7522089" "0" "" "" "g.45337868G>A" "" "VUS" "" "0000420345" "0" "50" "1" "45801375" "45801375" "subst" "0" "02939" "MUTYH_000306" "g.45801375A>C" "" "" "" "" "" "Germline" "" "rs7550250" "0" "" "" "g.45335703A>C" "" "VUS" "" "0000420346" "0" "50" "1" "45795070" "45795070" "del" "0" "02939" "MUTYH_000316" "g.45795070del" "" "" "" "" "" "Germline" "" "rs34961970" "0" "" "" "g.45329398del" "" "VUS" "" "0000420347" "0" "50" "1" "45797741" "45797741" "subst" "8.12196E-6" "02939" "MUTYH_000168" "g.45797741G>C" "" "" "" "" "" "Germline" "" "rs11211096" "0" "" "" "g.45332069G>C" "" "VUS" "" "0000420348" "0" "50" "1" "45797406" "45797406" "subst" "0" "02939" "MUTYH_000311" "g.45797406G>A" "" "" "" "" "" "Germline" "" "rs61751011" "0" "" "" "g.45331734G>A" "" "VUS" "" "0000439054" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "01164" "MUTYH_000081" "g.45797139G>A" "" "" "" "" "clinical attenuated polyposis coli, positive family history of colonic polyps / compound heterozygous for c.1276C>T (p,Arg426Cys) and c.536A>G (p.Tyr179Cys) in patient; reported in Aretz 2006. Int J Cancer 119: 807; Komine 2015. Hum Mutat 36: 704; Ricci 2017. J Hum Genet 62: 309" "Germline" "" "rs150792276" "0" "" "" "g.45331467G>A" "" "VUS" "ACMG" "0000439055" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "clinical attenuated polyposis coli, positive family history of colonic polyps / compound heterozygous for c.1276C>T (p,Arg426Cys) and c.536A>G (p.Tyr179Cys) in patient; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22:; Nielsen 2009. Gastroenterology 136: 471" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000439057" "0" "70" "1" "45805925" "45805925" "subst" "8.19618E-6" "01164" "MUTYH_000360" "g.45805925A>G" "" "" "" "" "ACMG grading: PM2,PVS1; CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS" "Germline" "" "rs865954220" "0" "" "" "g.45340253A>G" "" "likely pathogenic" "ACMG" "0000499851" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "01164" "MUTYH_000045" "g.45798269T>C" "" "" "" "" "ACMG grading: BP4; sigma-ca at age 52y, MSS, no loss of MMR genes in IHC; several cancers in maternal side (CRC and BC);; reported in Maxwell 2016. Am J Hum Genet 98: 801; Ricci 2017. J Hum Genet 62: 309; Isaacsson-Velho 2018. Prostate 78: 401" "Germline" "" "rs200872702" "0" "" "" "g.45332597T>C" "" "VUS" "ACMG" "0000500609" "0" "70" "1" "45796923" "45796924" "del" "0" "01164" "MUTYH_000361" "g.45796923_45796924del" "" "" "" "" "BC at age 37y, and contralateral at age of 64y; aunt (ms) contralateral BC below age 50y; HBOC 12-gene panel negative result" "Germline" "" "" "0" "" "" "g.45331251_45331252del" "" "likely pathogenic" "ACMG" "0000500610" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "01164" "MUTYH_000051" "g.45798117C>T" "" "" "" "" "ACMG grading: PP3, PP5, PP1, PM2, PM3, PS3; suspicion of hereditary cancer predisposition in family; HBOC-12 gene panel VUS in BRCA2 and STK11" "Germline" "" "rs140342925" "0" "" "" "g.45332445C>T" "" "pathogenic" "ACMG" "0000500614" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "CRC and multiple polyps at age 74" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000500615" "0" "50" "1" "45799266" "45799266" "subst" "8.21241E-6" "01164" "MUTYH_000357" "g.45799266C>A" "" "" "" "" "pateint unaffected, mother CRC at age 64y, uncle ms CRC at age 48y., his son CUP at age 30y" "Germline" "" "rs587781374" "0" "" "" "g.45333594C>A" "" "VUS" "ACMG" "0000500616" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "BC at age 41y., 2x Basalioma at age 35-40y., grandmother ps. Melanoma, grandmother ms kidney cancer" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000500617" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS3,PM3,PS4,PP1,PP3; mother pancreatic-ca at age > 35y., half-sister ps. BC, other half-sister ovarian-ca; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500618" "0" "70" "1" "45798467" "45798467" "subst" "4.06055E-6" "01164" "MUTYH_000040" "g.45798467G>A" "" "" "" "" "ACMG grading: PM2,PP5,PM5,PP3; triple neg BC at age 74y" "Germline" "" "rs747993448" "0" "" "" "g.45332795G>A" "" "likely pathogenic" "ACMG" "0000500619" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP3, PS4, PM3, S3, PP1" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500621" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "01164" "MUTYH_000051" "g.45798117C>T" "" "" "" "" "ACMG grading: PP1,PP3,PS3,PM2,PP5,PM3; more than 12 tubular adenomas at age 34y; reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604" "Germline" "" "rs140342925" "0" "" "" "g.45332445C>T" "" "pathogenic" "ACMG" "0000500622" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "more than 12 tubular adenomas at age 34y" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000500623" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP1,PP3,PS3,PS4,PM3; Rectum-Ca at age 63 y., CRC at age 61, daughter 2 SSA; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500624" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP1,PP3,PS3,PS4,PM3; Multiple Polys at age 54, suspicion of a MUTYH-associated polyposis (MAP); reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500625" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "01164" "MUTYH_000051" "g.45798117C>T" "" "" "" "" "ACMG grading: PP1,PP3,PS3,PM2,PP5,PM3; Multiple Polys at age 54, suspicion of a MUTYH-associated polyposis (MAP); reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604" "Germline" "" "rs140342925" "0" "" "" "g.45332445C>T" "" "pathogenic" "ACMG" "0000500626" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PM3, PP1, PP3, PS3, PS4" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500628" "0" "90" "1" "45798466" "45798466" "subst" "8.12123E-6" "01164" "MUTYH_000041" "g.45798466C>T" "" "" "" "" "Invasiv-tubular BC at age 47y left side and contralateral BC at age 60y. HBOC 34 gene panel negative result; reported in Isidro 2004. Hum Mutat 24: 353; Komine 2015. Hum Mutat 36: 704; AlDubayan 2018. A J Hum Genet 102: 401" "Germline" "" "rs143353451" "0" "" "" "g.45332794C>T" "" "pathogenic" "ACMG" "0000500629" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000500630" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "01164" "MUTYH_000045" "g.45798269T>C" "" "" "" "" "ACMG grading: BP4; Colon ascendens-carzinoma at age 45y. and sigmacarzinoma (MSS, expression of all 4 MMR genes) at age 51y., Bethesda-fulfilled;; reported in Maxwell 2016. Am J Hum Genet 98: 801; Ricci 2017. J Hum Genet 62: 309; Isaacsson Velho 2018. Prostate 78: 401" "Germline" "" "rs200872702" "0" "" "" "g.45332597T>C" "" "VUS" "ACMG" "0000500631" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000500632" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PM3,PP1,PP3,PS4,PS3; Astrocytoma at age 42y, angiomyolipoma kidney, mother ovarian-ca at age 59y, aunt mixofibrosarcoma under age 45y, grandfather mixoliposarcoma at age 70y; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500633" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000500636" "0" "50" "1" "45797890" "45797890" "subst" "4.87769E-5" "01164" "MUTYH_000348" "g.45797890C>T" "" "" "" "" "ACMG grading: BP4; Adeno-Ca left colon at age 54y, loss MLH1/PMS2 in tumor, BRAF V600E WT, MLH1 promotormethylation negative, MLH1/PMS2 germline testing with negative result; cousin CRC at age 46y, other cousin BC at age 50y" "Germline" "" "rs146044717" "0" "" "" "g.45332218C>T" "" "VUS" "ACMG" "0000500637" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS3,PM3,PP1,PP3,PS4; father CRC at age 54 y., Grandmother ms BC at age 45y; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500638" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS3,PM3,PP1,PP3,PS4; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500639" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000500641" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "co-occurence with pathogenic variant in BRCA1" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000500642" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PM3,PS3,PP1,PP3,PS4; Patient with several polyps at age 26y, mother, aunt and uncle ms polyps, cousin one adenoma at age 26y, grandfather ms CRC at age 64y, other grandfather ms pancreatic cancer at age 66y; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500643" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PM3,PS3,PP1,PP3,PS4; Patient unaffected, mother BC at age 63y and 73y and melanoma at age 30y, brother 2 kidney cancers at age 46y and 56y, grandmother ps bilateral kidney cancer (pathogenic genomic FH deletion detected in family, patient is not carrier).; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000500644" "0" "50" "1" "45798115" "45798115" "subst" "5.70395E-5" "01164" "MUTYH_000053" "g.45798115C>A" "" "" "" "" "ACMG grading: PM2,PM3,PP5,PS3,BS3; GIST at age 39y, KIT and PDGFRA negativ results" "Germline" "" "rs587780749" "0" "" "" "g.45332443C>A" "" "VUS" "ACMG" "0000500645" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP3,PM3,PP1,PS3,PS4; Adeno-ca in the valvula region at age 45y, (pTis pN0(0/16) L0 V0 Pn0 G2 R0), Hodgkin-Lymphoma at age 35y, melanoma at age 31y; co-occurence with truncating variant in RECQL4 (NM_004260:c.1704+1G>A het); reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000507640" "0" "10" "1" "45795027" "45795027" "subst" "0.00255411" "02330" "MUTYH_000096" "g.45795027C>T" "" "" "" "MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45329355C>T" "" "benign" "" "0000507641" "0" "50" "1" "45796865" "45796865" "subst" "3.65515E-5" "01804" "MUTYH_000059" "g.45796865C>T" "" "" "" "MUTYH(NM_001048171.1):c.1423G>A (p.(Ala475Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331193C>T" "" "VUS" "" "0000507642" "0" "10" "1" "45796881" "45796881" "subst" "0.00295618" "02330" "MUTYH_000261" "g.45796881G>A" "" "" "" "MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331209G>A" "" "benign" "" "0000507643" "0" "30" "1" "45796883" "45796883" "subst" "0" "02330" "MUTYH_000338" "g.45796883T>G" "" "" "" "MUTYH(NM_001128425.2):c.1447A>C (p.T483P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331211T>G" "" "likely benign" "" "0000507644" "0" "10" "1" "45797026" "45797026" "subst" "0.00012588" "02330" "HPDL_000001" "g.45797026G>A" "" "" "" "MUTYH(NM_001128425.2):c.1324-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331354G>A" "" "benign" "" "0000507645" "0" "30" "1" "45797105" "45797105" "subst" "4.062E-6" "02330" "MUTYH_000150" "g.45797105C>T" "" "" "" "MUTYH(NM_001128425.2):c.1310G>A (p.R437Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331433C>T" "" "likely benign" "" "0000507646" "0" "30" "1" "45797157" "45797157" "subst" "0.000573124" "02330" "MUTYH_000141" "g.45797157G>T" "" "" "" "MUTYH(NM_001128425.2):c.1258C>A (p.L420M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331485G>T" "" "likely benign" "" "0000507647" "0" "90" "1" "45797188" "45797189" "dup" "0" "02330" "MUTYH_000078" "g.45797188_45797189dup" "" "" "" "MUTYH(NM_001048171.1):c.1185_1186dup (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_1228..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000507648" "0" "90" "1" "45797188" "45797189" "dup" "0" "01943" "MUTYH_000078" "g.45797188_45797189dup" "" "" "" "MUTYH(NM_001048171.1):c.1185_1186dup (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_1228..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000507649" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "01804" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331529G>A" "" "pathogenic" "" "0000507650" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02329" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331529G>A" "" "pathogenic" "" "0000507651" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01804" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331556C>T" "" "pathogenic" "" "0000507652" "0" "90" "1" "45797374" "45797374" "del" "0" "02330" "MUTYH_000344" "g.45797374del" "" "" "" "MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331702del" "" "pathogenic" "" "0000507653" "0" "50" "1" "45797506" "45797506" "subst" "0.00014449" "01804" "MUTYH_000044" "g.45797506T>C" "" "" "" "MUTYH(NM_001128425.1):c.1013A>G (p.(Gln338Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331834T>C" "" "VUS" "" "0000507654" "0" "70" "1" "45797695" "45797695" "subst" "0" "01804" "HPDL_000002" "g.45797695C>G" "" "" "" "MUTYH(NM_001128425.1):c.997G>C (p.(Ala333Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332023C>G" "" "likely pathogenic" "" "0000507656" "0" "30" "1" "45797846" "45797846" "subst" "0.000455003" "02330" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332174G>A" "" "likely benign" "" "0000507657" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "02325" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332174G>A" "" "VUS" "" "0000507658" "0" "30" "1" "45797846" "45797846" "subst" "0.000455003" "02329" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332174G>A" "" "likely benign" "" "0000507659" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02327" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332215G>A" "" "pathogenic" "" "0000507660" "0" "30" "1" "45797890" "45797890" "subst" "4.87769E-5" "02327" "MUTYH_000348" "g.45797890C>T" "" "" "" "MUTYH(NM_001128425.2):c.881G>A (p.R294H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332218C>T" "" "likely benign" "" "0000507661" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "02327" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332440G>A" "" "pathogenic" "" "0000507662" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "02327" "MUTYH_000051" "g.45798117C>T" "" "" "" "MUTYH(NM_001048171.1):c.692G>A (p.(Arg231His)), MUTYH(NM_001128425.2):c.734G>A (p.R245H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332445C>T" "" "pathogenic" "" "0000507663" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "02330" "MUTYH_000050" "g.45798130G>A" "" "" "" "MUTYH(NM_001128425.1):c.721C>T (p.(Arg241Trp)), MUTYH(NM_001128425.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332458G>A" "" "pathogenic" "" "0000507664" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "02327" "MUTYH_000050" "g.45798130G>A" "" "" "" "MUTYH(NM_001128425.1):c.721C>T (p.(Arg241Trp)), MUTYH(NM_001128425.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332458G>A" "" "pathogenic" "" "0000507665" "0" "50" "1" "45798287" "45798287" "subst" "4.87393E-5" "02330" "HPDL_000003" "g.45798287G>A" "" "" "" "MUTYH(NM_001128425.2):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332615G>A" "" "VUS" "" "0000507666" "0" "50" "1" "45798287" "45798287" "subst" "4.87393E-5" "02327" "HPDL_000003" "g.45798287G>A" "" "" "" "MUTYH(NM_001128425.2):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332615G>A" "" "VUS" "" "0000507667" "0" "70" "1" "45798328" "45798328" "subst" "2.03039E-5" "02330" "HPDL_000004" "g.45798328C>G" "" "" "" "MUTYH(NM_001128425.2):c.608G>C (p.R203P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332656C>G" "" "likely pathogenic" "" "0000507668" "0" "90" "1" "45798466" "45798466" "subst" "8.12123E-6" "02330" "MUTYH_000041" "g.45798466C>T" "" "" "" "MUTYH(NM_001128425.2):c.545G>A (p.R182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332794C>T" "" "pathogenic" "" "0000507669" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01804" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332803T>C" "" "pathogenic" "" "0000507670" "0" "10" "1" "45798510" "45798510" "subst" "0.00123864" "02329" "MUTYH_000242" "g.45798510T>C" "" "" "" "MUTYH(NM_001128425.1):c.505-4A>G, MUTYH(NM_001128425.2):c.505-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332838T>C" "" "benign" "" "0000507671" "0" "30" "1" "45798781" "45798781" "subst" "7.71567E-5" "02330" "MUTYH_000260" "g.45798781G>A" "" "" "" "MUTYH(NM_001128425.1):c.450C>T (p.T150=), MUTYH(NM_001128425.2):c.450C>T (p.T150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333109G>A" "" "likely benign" "" "0000507672" "0" "30" "1" "45798781" "45798781" "subst" "7.71567E-5" "01943" "MUTYH_000260" "g.45798781G>A" "" "" "" "MUTYH(NM_001128425.1):c.450C>T (p.T150=), MUTYH(NM_001128425.2):c.450C>T (p.T150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333109G>A" "" "likely benign" "" "0000507673" "0" "50" "1" "45798848" "45798848" "subst" "3.65601E-5" "01804" "HPDL_000005" "g.45798848G>A" "" "" "" "MUTYH(NM_001048171.1):c.347-6C>T (p.(=)), MUTYH(NM_001128425.2):c.389-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333176G>A" "" "VUS" "" "0000507674" "0" "30" "1" "45798854" "45798854" "subst" "0" "02330" "HPDL_000006" "g.45798854G>A" "" "" "" "MUTYH(NM_001128425.2):c.389-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333182G>A" "" "likely benign" "" "0000507675" "0" "30" "1" "45798901" "45798901" "subst" "0" "02327" "MUTYH_000009" "g.45798901C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333229C>T" "" "likely benign" "" "0000507676" "0" "90" "1" "45798993" "45798993" "subst" "0" "02327" "HPDL_000007" "g.45798993C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333321C>A" "" "pathogenic" "" "0000507677" "0" "90" "1" "45799108" "45799108" "subst" "3.65473E-5" "02330" "MUTYH_000008" "g.45799108G>A" "" "" "" "MUTYH(NM_001128425.1):c.325C>T (p.R109W), MUTYH(NM_001128425.2):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333436G>A" "" "pathogenic" "" "0000507678" "0" "50" "1" "45799108" "45799108" "subst" "3.65473E-5" "01943" "MUTYH_000008" "g.45799108G>A" "" "" "" "MUTYH(NM_001128425.1):c.325C>T (p.R109W), MUTYH(NM_001128425.2):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333436G>A" "" "VUS" "" "0000507679" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "02327" "MUTYH_000007" "g.45799120C>T" "" "" "" "MUTYH(NM_001128425.1):c.313G>A (p.D105N), MUTYH(NM_001128425.2):c.313G>A (p.D105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333448C>T" "" "VUS" "" "0000507680" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02327" "MUTYH_000032" "g.45799121G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333449G>T" "" "pathogenic" "" "0000507681" "0" "50" "1" "45799197" "45799197" "subst" "0" "02327" "HPDL_000008" "g.45799197G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333525G>T" "" "VUS" "" "0000507682" "0" "30" "1" "45799211" "45799211" "subst" "4.06227E-6" "02330" "HPDL_000009" "g.45799211C>T" "" "" "" "MUTYH(NM_001128425.2):c.222G>A (p.E74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333539C>T" "" "likely benign" "" "0000507683" "0" "10" "1" "45800079" "45800079" "subst" "2.03039E-5" "02330" "TOE1_000004" "g.45800079C>T" "" "" "" "MUTYH(NM_001128425.2):c.141G>A (p.K47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45334407C>T" "" "benign" "" "0000507684" "0" "10" "1" "45800156" "45800156" "subst" "0.0487424" "02330" "MUTYH_000005" "g.45800156C>T" "" "" "" "MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45334484C>T" "" "benign" "" "0000507685" "0" "10" "1" "45800156" "45800156" "subst" "0.0487424" "01943" "MUTYH_000005" "g.45800156C>T" "" "" "" "MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45334484C>T" "" "benign" "" "0000507686" "0" "10" "1" "45800156" "45800156" "subst" "0.0487424" "02325" "MUTYH_000005" "g.45800156C>T" "" "" "" "MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M), MUTYH(NM_001128425.2):c.64G>A (p.V22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45334484C>T" "" "benign" "" "0000507688" "0" "10" "1" "45805880" "45805880" "subst" "0.00332968" "01943" "MUTYH_000003" "g.45805880G>A" "" "" "" "MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, MUTYH(NM_001128425.2):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45340208G>A" "" "benign" "" "0000507689" "0" "10" "1" "45805880" "45805880" "subst" "0.00332968" "02329" "MUTYH_000003" "g.45805880G>A" "" "" "" "MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, MUTYH(NM_001128425.2):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45340208G>A" "" "benign" "" "0000507690" "0" "70" "1" "45806998" "45806998" "subst" "4.06058E-6" "02327" "TESK2_000004" "g.45806998G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45341326G>C" "" "likely pathogenic" "" "0000507691" "0" "70" "1" "45808162" "45808162" "subst" "0" "02327" "TESK2_000005" "g.45808162A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45342490A>T" "" "likely pathogenic" "" "0000507692" "0" "30" "1" "45808833" "45808833" "subst" "1.62496E-5" "01943" "TESK2_000006" "g.45808833C>T" "" "" "" "TOE1(NM_025077.4):c.992C>T (p.A331V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45343161C>T" "" "likely benign" "" "0000507694" "0" "30" "1" "45809322" "45809322" "subst" "2.84391E-5" "01804" "TESK2_000007" "g.45809322G>A" "" "" "" "TOE1(NM_025077.3):c.1481G>A (p.(Arg494His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45343650G>A" "" "likely benign" "" "0000578300" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS4,PM3,PS3,PP1,PP3; patient with Melanoma in situ at age 32y; mother BC at age 42y., grandmother (ms) \"tumor in the region of the leg\" at age 30 - 40y; HBOC 34-gene panel negative result; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000578301" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "01164" "MUTYH_000051" "g.45798117C>T" "" "" "" "" "ACMG grading: PP3,PM3,PM2,PP5,PP1,PS3; CRC at age 38y, BC at age 54y, 2 sisters BC at age <50y and 53y., one brother melanoma, second brother bronchial carcinoma; reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604" "Germline" "" "rs140342925" "0" "" "" "g.45332445C>T" "" "pathogenic" "ACMG" "0000578302" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS4,PM3,PS3,PP1,PP3; patient unaffected but highly suspicious family history regarding HBOC, HBOC 34-gene panel negative result; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000578303" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP3,PS3,PM3,PP1,PS4; Sigma-Ca at age 60y, loss of MLH1/PMS2, endometrial-Ca at age 83y, Lynch gene panel (MLH1, MSH2, MSH6, PMS2, EPCAM-del) negative result; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000578304" "0" "50" "1" "45798289" "45798289" "subst" "8.12229E-6" "01164" "MUTYH_000184" "g.45798289C>T" "" "" "" "" "ACMG grading: PP3,PM2; Sigma-Ca at age 60y, loss of MLH1/PMS2, endometrial-Ca at age 83y, Lynch gene panel (MLH1, MSH2, MSH6, PMS2, EPCAM-del) negative result; reported in Xiong 2015. Science 347: 1254806; Maxwell 2016. Am J Hum Genet 98: 801" "Germline" "" "rs768553551" "0" "" "" "g.45332617C>T" "" "VUS" "ACMG" "0000578305" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP3,PS4,PM3,PP1,PS3; patient unaffected, mother BC at age 29y, HBOC 34-gene panel negative result; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000578306" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP3,PS4,PM3,PP1,PS3; Sigma-Ca at age 51y. (MSS, expression of all 4 MMR genes) Family history: mother gastric cancer at age 35y; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000578307" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "01164" "MUTYH_000019" "g.45797846G>A" "" "" "" "" "ACMG grading: BP4; Patient with two tubular adenomas (expression of all 4 MMR genes) and one hyperplastic polyp at age 24y; father CRC at age 57y, grandfather (ps) CRC at age 74y, sister of grandfather CRC at age 73y, rev. Bethesda criteria fulfilled.; reported in Maxwell 2016. Am J Hum Genet 98: 801; Ricci 2017. J Hum Genet 62: 309; Ricci 2017. J 62: 309" "Germline" "" "rs138089183" "0" "" "" "g.45332174G>A" "" "VUS" "ACMG" "0000578308" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "01164" "MUTYH_000051" "g.45798117C>T" "" "" "" "" "ACMG grading: PM3,PS3,PM2,PP1,PP3,PP5; patient not affected but suspicious family history: mother and grandmother (ms) both BC and endometrium CA below age 50y; reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604" "Germline" "" "rs140342925" "0" "" "" "g.45332445C>T" "" "pathogenic" "ACMG" "0000578309" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "01164" "MUTYH_000051" "g.45798117C>T" "" "" "" "" "ACMG grading: PM3,PS3,PM2,PP1,PP3,PP5; Rectum-CA (expression of all 4 MMR genes, MSS) at age 46y, Bethesda fulfilled, father prostate-CA at age 74y, aunt (ps) CRC (no information available), family history at the maternal side includes gastric cancer (2 times around 40-55y), BC (2 times under age 50); reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604" "Germline" "" "rs140342925" "0" "" "" "g.45332445C>T" "" "pathogenic" "ACMG" "0000578311" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS4,PS3,PP1,PP3,PM3; NF1 negative result; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000578312" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "BC at age 29y., rezidiv at age 75y., aunt ms. BC at age 80y., 2 Cousins ms. BC around age 70y; HBOC 34-gene panel negative result" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000578313" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP3,PM3,PP1,PS4,PS3; BC at age 41y., Cousin ms. BC, aunt ms. cancer (unknown) at age 80 y., father CRC, aunt ps.. cancer (unknown); reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000578314" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "01164" "MUTYH_000019" "g.45797846G>A" "" "" "" "" "ACMG grading: BP4; patient with several polyps (10-30); reported in Maxwell 2016. Am J Hum Genet 98: 801; Ricci 2017. J Hum Genet 62: 309; Ricci 2017. J 62: 309" "Germline" "" "rs138089183" "0" "" "" "g.45332174G>A" "" "VUS" "ACMG" "0000578315" "0" "90" "1" "45796895" "45796897" "del" "0" "01164" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "" "patient with pathogenic WT1 variant:: nephroblastoma at age of 6 month, 2 brothers of the grandfather ms tumors at age 35 y. and 50y (unknown tumors), sister of grandfahter BC; reported in Halford 2003. Am J Pathol 162: 1545; Vogt 2009. Gastroenterology 137: 1976; Goto 2010. Hum Mutat 31: 1861" "Germline" "" "rs587778541" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "ACMG" "0000578326" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP3,PS3,PP1,PS4,PM3; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000593699" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP1,PP3,PS3,PS4,PM3; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000594738" "0" "90" "1" "45797374" "45797374" "del" "0" "01164" "MUTYH_000069" "g.45797374del" "" "" "" "" "ACMG grading: PVS1,PP5,PS4; ovarian cancer at age 72y, no informative family history; HBOC-12 gene panel negative result; reported in Ricci 2017. J Hum Genet 62: 309; Sieber 2003. N Engl J Med 348: 791" "Germline" "" "rs587778536" "0" "" "" "g.45331702del" "" "pathogenic" "ACMG" "0000594740" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS3,PP3,PS4,PP1,PM3; patient not affected at time of referral (45y), but highly suspicious family history of a hereditary cancer predisposition: mother BC at age at age 51y, grandmother (ms) BC at age 54y, father lung cancer at age 51y, grandmother (ps) BC at age 50y, HBOC 12-gene panel negative result; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000594741" "0" "50" "1" "45799143" "45799143" "subst" "1.21819E-5" "01164" "MUTYH_000266" "g.45799143C>T" "" "" "" "" "ACMG grading: PP5,BP4,PM2; patient not affected at time of referral (45y), but highly suspicious family history of a hereditary cancer predisposition: mother BC at age at age 51y, grandmother (ms) BC at age 54y, father lung cancer at age 51y, grandmother (ps) BC at age 50y, HBOC 12-gene panel negative result" "Germline" "" "rs755653922" "0" "" "" "g.45333471C>T" "" "VUS" "ACMG" "0000594742" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "brother bladder tumor at age 55y" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000594743" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP1,PM3,PS4,PS3,PP3; CRC at age 46y (MSS, expression of al 4 MMR genes in tumor), aunt gynecological tumor at age 55y; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000594744" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP1,PM3,PS4,PS3,PP3; Patient with Colon ascendens - carzinoma and multiple polyps (high grade dysplasia; C. transv., Rectum).; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000594745" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "01164" "MUTYH_000097" "g.45797835T>G" "" "" "" "" "ACMG grading: PP1,PM3,PM2,PS3,PP3; Patient with Colon ascendens - carzinoma and multiple polyps (high grade dysplasia; C. transv., Rectum).; reported in Sampson 2003. Lancet 362: 39; Pin 2013. Int J Cancer 132: 1060" "Germline" "" "rs587780751" "0" "" "" "g.45332163T>G" "" "pathogenic" "ACMG" "0000594746" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP1,PM3,PS4,PS3,PP3; Triple-neg. Mamma-Ca at age 55y, father Hodgkin-Lymhom at age 31y.; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000594747" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS4,PP3,PS3,PP1,PM3; Triple negative BC at age 46y., grandmother (ms) BC at age 50y.; co-occurence with truncating variant in BRIP1; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000594748" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "01164" "MUTYH_000109" "g.45797401G>A" "" "" "" "" "CRC (MSS, expression of all 4 MMR genes) at age 45y., mother CRC at age 80y. Bethesda criteria fulfilled; reported in Yanaru-Fujisawa 2008. Clin Genet 73: 545; Goto 2010. Hum Mutat 31: E1861; Johnston 2012. Am J Hum Genet 91: 97" "Germline" "" "rs35352891" "0" "" "" "g.45331729G>A" "" "VUS" "ACMG" "0000594749" "0" "70" "1" "45797914" "45797914" "subst" "2.44089E-5" "01164" "MUTYH_000191" "g.45797914C>T" "" "" "" "" "ACMG grading: PP3,PP5,PM2,PM3; CRC (MSS, expression of all 4 MMR genes) at age 45y., mother CRC at age 80y. Bethesda criteria fulfilled; reported in Kim 2007. Int J Colorectal Dis 22: 1173; Zhang 2015. World J GAstroenterol 21: 4136; Khan 2017. Sci Rep 7: 2214" "Germline" "" "rs730881833" "0" "" "" "g.45332242C>T" "" "likely pathogenic" "ACMG" "0000594750" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PM3,PP1,PP3,PS4,PS3; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000594751" "0" "50" "1" "45797760" "45797760" "subst" "0.00108835" "01164" "MUTYH_000098" "g.45797760T>C" "" "" "" "" "ACMG grading: PVS1,PS3_moderat, BS1, BP5: valid but conflicting lines of evidence; CRC (MSS, expression of all 4 MMR genes) at age 45y., mother CRC at age 80y. Bethesda criteria fulfilled; reported in Tao 2004. Carcinogenesis 25: 1859; Hirotsu 2015. Mol Genet Genomic 3: 459; Kline 2016. Neuro Oncol 18: 752; Reuter 2018. CMAJ 190: E126" "Germline" "" "rs77542170" "0" "" "" "g.45332088T>C" "" "VUS (!)" "ACMG" "0000594752" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "01164" "MUTYH_000019" "g.45797846G>A" "" "" "" "" "ACMG grading: BP4; Mucinous Adenocarzinoma colon descendens (MSSl, IHC expression of all 4 MMR genes) at age 36y, uncle CRC < 50y, grandmother ps CRC at age 70y.; reported in Maxwell 2016. Am J Hum Genet 98: 801; Ricci 2017. J Hum Genet 62: 309; Ricci 2017. J 62: 309" "Germline" "" "rs138089183" "0" "" "" "g.45332174G>A" "" "VUS" "ACMG" "0000594754" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000594755" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "01164" "MUTYH_000097" "g.45797835T>G" "" "" "" "" "ACMG grading: PS3,PM3,PP1,PM2,PP3; reported in Sampson 2003. Lancet 362: 39; Pin 2013. Int J Cancer 132: 1060" "Germline" "" "rs587780751" "0" "" "" "g.45332163T>G" "" "pathogenic" "ACMG" "0000595584" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "01164" "MUTYH_000077" "g.45797201G>A" "" "" "" "" "ACMG grading: PM2,PP3,PP5,PS3,PM5; reported in Nielsen 2005. J Med Genet 42: e54; Komine 2015. Hum Mutat 36: 704" "Germline" "" "rs529008617" "0" "" "" "g.45331529G>A" "" "pathogenic" "ACMG" "0000595589" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000595739" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS4,PP3,PM3,PS3,PP1; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000595744" "3" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "reported in Al-Tassan 2001. Nat Genet 30: 227; Vogt 2009. Gastroenterology 137: 1976.e1; Aretz 2014. Eur J Hum Genet 22: 923; Martin-Morales 2018. PLoS One 13: e0203885" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000595818" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP3,PM3,PS4,PP1,PS3; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000595819" "0" "50" "1" "45798568" "45798568" "subst" "4.07017E-6" "01164" "MUTYH_000362" "g.45798568C>T" "" "" "" "" "ACMG grading: PM3,PM2" "Germline" "" "rs752668622" "0" "" "" "g.45332896C>T" "" "VUS" "ACMG" "0000595821" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS3,PP3,PM3,PP1,PS4; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000597234" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "ACMG grading: PP3,PP1,PM2,PM1,PS3; reported in Komine 2015. Hum Mutat 36: 704" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000597246" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PS4,PS3,PP1,PP3,PM3; reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000598351" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01164" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "ACMG grading: PP1,PS3,PP3,PS4,PM3; variant reported in Al-Tassan 2002. Nat Genet 30: 227; Aretz 2014. Eur J Hum Genet 22: 923; Vogt 2009. Gastroenterology 137: 1976" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000598352" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01164" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "ACMG grading: PP1,PS3,PP3,PM2,PM1; variant reported in Komine 2015. Hum Mutat 36: 704" "Germline" "" "rs34612342" "0" "" "" "g.45332803T>C" "" "pathogenic" "ACMG" "0000598591" "0" "10" "1" "45796269" "45796269" "subst" "0.924515" "03452" "MUTYH_000106" "g.45796269G>C" "" "" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45330597G>C" "" "benign" "" "0000598592" "0" "10" "1" "45798555" "45798555" "subst" "0.926147" "03452" "MUTYH_000010" "g.45798555T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45332883T>C" "" "benign" "" "0000598610" "0" "10" "1" "45796269" "45796269" "subst" "0.924515" "03452" "MUTYH_000106" "g.45796269G>C" "" "" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45330597G>C" "" "benign" "" "0000598611" "0" "10" "1" "45798555" "45798555" "subst" "0.926147" "03452" "MUTYH_000010" "g.45798555T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45332883T>C" "" "benign" "" "0000598622" "3" "90" "1" "45797228" "45797228" "subst" "0.00295752" "03452" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000598646" "0" "10" "1" "45796269" "45796269" "subst" "0.924515" "03452" "MUTYH_000106" "g.45796269G>C" "" "" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45330597G>C" "" "benign" "" "0000598647" "0" "10" "1" "45798555" "45798555" "subst" "0.926147" "03452" "MUTYH_000010" "g.45798555T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45332883T>C" "" "benign" "" "0000598648" "0" "10" "1" "45800156" "45800156" "subst" "0.0487424" "03452" "MUTYH_000005" "g.45800156C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45334484C>T" "" "benign" "" "0000598657" "0" "90" "1" "45797507" "45797507" "subst" "6.56846E-5" "03452" "MUTYH_000062" "g.45797507G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331835G>A" "" "pathogenic" "" "0000598658" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "03452" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000598690" "3" "10" "1" "45798555" "45798555" "subst" "0.926147" "03452" "MUTYH_000010" "g.45798555T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45332883T>C" "" "benign" "" "0000598698" "3" "10" "1" "45796269" "45796269" "subst" "0.924515" "03452" "MUTYH_000106" "g.45796269G>C" "" "" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45330597G>C" "" "benign" "" "0000598717" "3" "10" "1" "45796269" "45796269" "subst" "0.924515" "03452" "MUTYH_000106" "g.45796269G>C" "" "" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45330597G>C" "" "benign" "" "0000598718" "3" "10" "1" "45798555" "45798555" "subst" "0.926147" "03452" "MUTYH_000010" "g.45798555T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45332883T>C" "" "benign" "" "0000598719" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "03452" "MUTYH_000063" "g.45797505C>G" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000599083" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "02337" "MUTYH_000063" "g.45797505C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000599084" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "02337" "MUTYH_000063" "g.45797505C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000599085" "0" "10" "1" "45800156" "45800156" "subst" "0.0487424" "02337" "MUTYH_000005" "g.45800156C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45334484C>T" "" "benign" "" "0000602990" "0" "70" "1" "45798245" "45798245" "subst" "0" "01164" "MUTYH_000363" "g.45798245C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45332573C>T" "" "likely pathogenic" "ACMG" "0000605798" "0" "10" "1" "45795027" "45795027" "subst" "0.00255411" "02329" "MUTYH_000096" "g.45795027C>T" "" "" "" "MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45329355C>T" "" "benign" "" "0000605799" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "02325" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332440G>A" "" "pathogenic" "" "0000605800" "0" "50" "1" "45798293" "45798293" "subst" "0" "02325" "HPDL_000010" "g.45798293C>A" "" "" "" "MUTYH(NM_001128425.2):c.643G>T (p.V215L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332621C>A" "" "VUS" "" "0000605801" "0" "50" "1" "45798613" "45798613" "subst" "8.56437E-5" "01804" "MUTYH_000225" "g.45798613C>G" "" "" "" "MUTYH(NM_001048171.1):c.439G>C (p.(Asp147His)), MUTYH(NM_001128425.2):c.481G>C (p.D161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332941C>G" "" "VUS" "" "0000605802" "0" "90" "1" "45798843" "45798843" "subst" "0" "02327" "MUTYH_000110" "g.45798843C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333171C>T" "" "pathogenic" "" "0000605803" "0" "30" "1" "45798848" "45798848" "subst" "3.65601E-5" "02330" "HPDL_000005" "g.45798848G>A" "" "" "" "MUTYH(NM_001048171.1):c.347-6C>T (p.(=)), MUTYH(NM_001128425.2):c.389-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333176G>A" "" "likely benign" "" "0000605804" "0" "30" "1" "45799266" "45799266" "subst" "8.21241E-6" "02327" "MUTYH_000357" "g.45799266C>A" "" "" "" "MUTYH(NM_001128425.1):c.167G>T (p.G56V), MUTYH(NM_001128425.2):c.167G>T (p.G56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333594C>A" "" "likely benign" "" "0000620651" "0" "70" "1" "45798461" "45798461" "subst" "1.21818E-5" "02330" "MUTYH_000035" "g.45798461G>A" "" "" "" "MUTYH(NM_001128425.2):c.550C>T (p.R184W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332789G>A" "" "likely pathogenic" "" "0000620652" "0" "50" "1" "45807618" "45807618" "subst" "4.06729E-6" "02325" "TESK2_000008" "g.45807618C>A" "" "" "" "TOE1(NM_025077.4):c.334-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45341946C>A" "" "VUS" "" "0000620653" "0" "70" "1" "45808676" "45808754" "del" "0" "02325" "TESK2_000009" "g.45808676_45808754del" "" "" "" "TOE1(NM_025077.4):c.912_913-2del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45343004_45343082del" "" "likely pathogenic" "" "0000647712" "1" "90" "1" "45796912" "45796912" "subst" "2.84243E-5" "03575" "MUTYH_000123" "g.45796912G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200844166}" "Germline" "" "rs200844166" "0" "" "" "g.45331240G>T" "" "pathogenic" "" "0000647713" "1" "50" "1" "45797157" "45797157" "subst" "0.000573124" "03575" "MUTYH_000141" "g.45797157G>T" "4/2776 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs144079536}" "Germline" "" "rs144079536" "0" "" "" "g.45331485G>T" "" "VUS" "" "0000647714" "1" "70" "1" "45797228" "45797228" "subst" "0.00295752" "03575" "MUTYH_000075" "g.45797228C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs36053993}" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "likely pathogenic" "" "0000647715" "1" "50" "1" "45797760" "45797760" "subst" "0.00108835" "03575" "MUTYH_000098" "g.45797760T>C" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs77542170}" "Germline" "" "rs77542170" "0" "" "" "g.45332088T>C" "" "VUS" "" "0000647716" "1" "70" "1" "45798117" "45798117" "subst" "7.74013E-5" "03575" "MUTYH_000051" "g.45798117C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs140342925}" "Germline" "" "rs140342925" "0" "" "" "g.45332445C>T" "" "likely pathogenic" "" "0000647717" "1" "70" "1" "45798118" "45798118" "subst" "5.29614E-5" "03575" "MUTYH_000132" "g.45798118G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200495564}" "Germline" "" "rs200495564" "0" "" "" "g.45332446G>A" "" "likely pathogenic" "" "0000647718" "1" "70" "1" "45798130" "45798130" "subst" "6.92447E-5" "03575" "MUTYH_000050" "g.45798130G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs34126013}" "Germline" "" "rs34126013" "0" "" "" "g.45332458G>A" "" "likely pathogenic" "" "0000647719" "1" "70" "1" "45798844" "45798844" "subst" "0" "03575" "MUTYH_000366" "g.45798844T>C" "17/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs863224452}" "Germline" "" "rs863224452" "0" "" "" "g.45333172T>C" "" "likely pathogenic" "" "0000647720" "1" "70" "1" "45799108" "45799108" "subst" "3.65473E-5" "03575" "MUTYH_000008" "g.45799108G>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs765123255}" "Germline" "" "rs765123255" "0" "" "" "g.45333436G>A" "" "likely pathogenic" "" "0000647721" "1" "10" "1" "45800033" "45800033" "subst" "0.0238208" "03575" "MUTYH_000006" "g.45800033T>C" "56/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "56 heterozygous, no homozygous; {DB:CLININrs3219485}" "Germline" "" "rs3219485" "0" "" "" "g.45334361T>C" "" "benign" "" "0000652970" "1" "70" "1" "45798588" "45798588" "subst" "0" "03575" "MUTYH_000365" "g.45798588A>C" "2/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587782730.1}" "Germline" "" "rs587782730" "0" "" "" "g.45332916A>C" "" "likely pathogenic" "" "0000653098" "1" "90" "1" "45799121" "45799121" "subst" "0.000121822" "03575" "MUTYH_000032" "g.45799121G>T" "5/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs121908380}" "Germline" "" "rs121908380" "0" "" "" "g.45333449G>T" "" "pathogenic" "" "0000653099" "1" "30" "1" "45800156" "45800156" "subst" "0.0487424" "03575" "MUTYH_000005" "g.45800156C>T" "149/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "149 heterozygous, no homozygous; {DB:CLININrs3219484}" "Germline" "" "rs3219484" "0" "" "" "g.45334484C>T" "" "likely benign" "" "0000653327" "1" "70" "1" "45797417" "45797417" "dup" "0" "03575" "MUTYH_000364" "g.45797417dup" "8/2606 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs768130289}\r\nVariant Error EBUILDMISMATCH: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs768130289" "0" "" "" "g.45331746dup" "" "likely pathogenic" "" "0000654050" "0" "30" "1" "45795081" "45795081" "subst" "0" "02330" "HPDL_000011" "g.45795081G>T" "" "" "" "MUTYH(NM_001128425.2):c.1547C>A (p.P516Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45329409G>T" "" "likely benign" "" "0000654051" "0" "90" "1" "45796895" "45796897" "del" "0" "02330" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000654052" "0" "50" "1" "45796937" "45796937" "subst" "6.90299E-5" "02325" "MUTYH_000339" "g.45796937G>C" "" "" "" "MUTYH(NM_001128425.2):c.1393C>G (p.P465A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331265G>C" "" "VUS" "" "0000654053" "0" "30" "1" "45797324" "45797324" "subst" "0.000110063" "02330" "MUTYH_000238" "g.45797324T>A" "" "" "" "MUTYH(NM_001128425.2):c.1186+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331652T>A" "" "likely benign" "" "0000654054" "0" "30" "1" "45797515" "45797515" "subst" "0" "02330" "HPDL_000012" "g.45797515T>C" "" "" "" "MUTYH(NM_001128425.2):c.1004A>G (p.N335S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331843T>C" "" "likely benign" "" "0000659670" "1" "70" "1" "45797228" "45797228" "subst" "0.00295752" "03629" "MUTYH_000075" "g.45797228C>T" "1/22 cases" "" "" "" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "likely pathogenic" "" "0000675203" "0" "70" "1" "45796230" "45796230" "subst" "0" "03753" "MUTYH_000368" "g.45796230C>T" "0.057" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000675873" "0" "30" "1" "45795043" "45795043" "subst" "0.00341909" "01804" "MUTYH_000177" "g.45795043G>T" "" "" "" "MUTYH(NM_001048171.1):c.1543C>A (p.(Leu515Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675874" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "01804" "MUTYH_000072" "g.45797348G>A" "" "" "" "MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377Ter)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675875" "0" "70" "1" "45798457" "45798457" "subst" "8.1211E-6" "02327" "MUTYH_000183" "g.45798457C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675876" "0" "30" "1" "45807169" "45807169" "subst" "0.000125949" "01943" "TESK2_000010" "g.45807169C>T" "" "" "" "TOE1(NM_025077.4):c.261C>T (p.A87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682742" "0" "70" "1" "45800062" "45800062" "subst" "0" "03753" "MUTYH_000367" "g.45800062C>T" "0.038" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000688187" "0" "30" "1" "45796241" "45796241" "subst" "0" "02327" "HPDL_000034" "g.45796241G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688188" "0" "10" "1" "45796881" "45796881" "subst" "0.00295618" "02326" "MUTYH_000261" "g.45796881G>A" "" "" "" "MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688189" "0" "90" "1" "45796895" "45796897" "del" "0" "02325" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688190" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02325" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688191" "0" "90" "1" "45797374" "45797374" "del" "0" "01804" "MUTYH_000069" "g.45797374del" "" "" "" "MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688192" "0" "30" "1" "45807641" "45807641" "subst" "0.000284296" "01943" "TESK2_000011" "g.45807641T>C" "" "" "" "TOE1(NM_025077.4):c.354T>C (p.A118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688193" "0" "30" "1" "45809017" "45809017" "subst" "0.00721035" "01943" "TESK2_000012" "g.45809017G>A" "" "" "" "TOE1(NM_025077.4):c.1176G>A (p.L392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699779" "0" "90" "8" "72156897" "72156897" "subst" "0" "00006" "EYA1_000032" "g.72156897G>A" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.71244662G>A" "" "pathogenic" "" "0000699795" "0" "90" "8" "72127865" "72127865" "subst" "4.06425E-6" "00006" "EYA1_000025" "g.72127865A>G" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.71215630A>G" "" "pathogenic" "" "0000699805" "0" "90" "8" "72229790" "72229790" "subst" "0" "00006" "EYA1_000195" "g.72229790G>A" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.71317555G>A" "" "pathogenic" "" "0000699812" "0" "90" "8" "72128947" "72128955" "del" "0" "00006" "MUTYH_000001" "g.72128947_72128955del" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.71216712_71216720del" "" "pathogenic" "" "0000699882" "0" "90" "8" "72182059" "72182059" "subst" "0" "00006" "MUTYH_000002" "g.72182059C>G" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.71269824C>G" "" "pathogenic" "" "0000699883" "0" "90" "8" "0" "0" "" "0" "00006" "RP1_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000717524" "0" "30" "1" "45796899" "45796899" "subst" "0.00454804" "01804" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717525" "0" "30" "1" "45797846" "45797846" "subst" "0.000455003" "01943" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717526" "0" "50" "1" "45797891" "45797891" "subst" "2.84574E-5" "02330" "HPDL_000035" "g.45797891G>A" "" "" "" "MUTYH(NM_001128425.2):c.880C>T (p.R294C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717527" "0" "70" "1" "45797924" "45797924" "subst" "4.06964E-6" "02327" "MUTYH_000017" "g.45797924T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717528" "0" "70" "1" "45797951" "45797951" "subst" "8.16247E-6" "02330" "MUTYH_000054" "g.45797951G>A" "" "" "" "MUTYH(NM_001128425.2):c.820C>T (p.R274W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717529" "0" "90" "1" "45797969" "45797969" "subst" "0" "02327" "HPDL_000036" "g.45797969G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717530" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "02327" "MUTYH_000045" "g.45798269T>C" "" "" "" "MUTYH(NM_001128425.1):c.667A>G (p.I223V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717531" "0" "30" "1" "45799086" "45799086" "subst" "6.09132E-5" "02327" "HPDL_000037" "g.45799086C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717532" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "01943" "MUTYH_000007" "g.45799120C>T" "" "" "" "MUTYH(NM_001128425.1):c.313G>A (p.D105N), MUTYH(NM_001128425.2):c.313G>A (p.D105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717533" "0" "50" "1" "45799266" "45799266" "subst" "2.87434E-5" "01943" "HPDL_000038" "g.45799266C>T" "" "" "" "MUTYH(NM_001128425.1):c.167G>A (p.G56E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717534" "0" "30" "1" "45805880" "45805880" "subst" "0.00332968" "01804" "MUTYH_000003" "g.45805880G>A" "" "" "" "MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, MUTYH(NM_001128425.2):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717535" "0" "50" "1" "45806798" "45806798" "subst" "0.000653754" "01943" "TESK2_000013" "g.45806798G>A" "" "" "" "TOE1(NM_025077.4):c.106G>A (p.V36I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717536" "0" "50" "1" "45809148" "45809148" "subst" "0" "01943" "TESK2_000014" "g.45809148G>C" "" "" "" "TOE1(NM_025077.4):c.1307G>C (p.G436A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735617" "0" "90" "8" "72127696" "72127696" "subst" "4.06587E-6" "00000" "EYA1_000023" "g.72127696G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71215461G>A" "" "pathogenic" "" "0000737048" "1" "50" "1" "45796948" "45796948" "del" "0" "04020" "MUTYH_000402" "g.45796948del" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796946_CT_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000737049" "1" "50" "1" "45797386" "45797386" "del" "0" "04020" "MUTYH_000334" "g.45797386del" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797384_GT_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000737050" "1" "50" "1" "45797973" "45797974" "del" "0" "04020" "MUTYH_000491" "g.45797973_45797974del" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797971_TGG_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000737104" "1" "50" "1" "45797164" "45797165" "delins" "0" "04020" "MUTYH_000420" "g.45797164_45797165delinsAA" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797164_GC_AA" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000737105" "1" "50" "1" "45796974" "45796974" "del" "0" "04020" "MUTYH_000199" "g.45796974del" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796973_AT_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740949" "1" "50" "1" "45795010" "45795010" "subst" "8.12117E-6" "04020" "MUTYH_000371" "g.45795010C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795010_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740950" "1" "50" "1" "45795015" "45795015" "subst" "0" "04020" "MUTYH_000373" "g.45795015G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795015_G_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740951" "1" "50" "1" "45795063" "45795063" "subst" "0" "04020" "MUTYH_000378" "g.45795063G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795063_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740952" "1" "50" "1" "45795096" "45795096" "subst" "4.06306E-6" "04020" "MUTYH_000383" "g.45795096G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795096_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740953" "1" "50" "1" "45796192" "45796192" "subst" "0" "04020" "MUTYH_000385" "g.45796192C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796192_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740954" "1" "50" "1" "45796195" "45796195" "subst" "0" "04020" "MUTYH_000386" "g.45796195G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796195_G_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740955" "1" "50" "1" "45796201" "45796201" "subst" "0" "04020" "MUTYH_000387" "g.45796201G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796201_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740956" "1" "50" "1" "45796852" "45796852" "subst" "0.000121821" "04020" "MUTYH_000281" "g.45796852G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796852_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740957" "1" "50" "1" "45796862" "45796862" "subst" "2.03032E-5" "04020" "MUTYH_000393" "g.45796862T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796862_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740958" "1" "50" "1" "45796865" "45796865" "subst" "0" "04020" "MUTYH_000394" "g.45796865C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796865_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740959" "1" "50" "1" "45796892" "45796892" "subst" "6.09097E-5" "04020" "MUTYH_000088" "g.45796892C>A" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796892_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740960" "1" "50" "1" "45796901" "45796901" "subst" "0" "04020" "MUTYH_000397" "g.45796901T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796901_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740961" "1" "50" "1" "45796912" "45796912" "subst" "2.84243E-5" "04020" "MUTYH_000123" "g.45796912G>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796912_G_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740962" "1" "50" "1" "45796961" "45796961" "subst" "0" "04020" "MUTYH_000403" "g.45796961C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796961_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740963" "1" "50" "1" "45797108" "45797108" "subst" "0" "04020" "MUTYH_000408" "g.45797108A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797108_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740964" "1" "50" "1" "45797133" "45797133" "subst" "0" "04020" "MUTYH_000413" "g.45797133C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797133_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740965" "1" "50" "1" "45797133" "45797133" "subst" "0" "04020" "MUTYH_000414" "g.45797133C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797133_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740966" "1" "50" "1" "45797165" "45797165" "subst" "2.03303E-5" "04020" "MUTYH_000340" "g.45797165C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797165_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740967" "1" "50" "1" "45797166" "45797166" "subst" "2.43956E-5" "04020" "MUTYH_000421" "g.45797166G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797166_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740968" "1" "50" "1" "45797175" "45797175" "subst" "5.28666E-5" "04020" "MUTYH_000276" "g.45797175G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797175_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740969" "1" "50" "1" "45797205" "45797205" "subst" "0" "04020" "MUTYH_000424" "g.45797205A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797205_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740970" "1" "50" "1" "45797210" "45797210" "subst" "0" "04020" "MUTYH_000425" "g.45797210C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797210_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740971" "1" "50" "1" "45797222" "45797222" "subst" "0" "04020" "MUTYH_000426" "g.45797222A>G" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797222_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740972" "1" "50" "1" "45797378" "45797378" "subst" "0" "04020" "MUTYH_000429" "g.45797378C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797378_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740973" "1" "50" "1" "45797382" "45797382" "subst" "4.0664E-6" "04020" "MUTYH_000430" "g.45797382C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797382_C_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740974" "1" "50" "1" "45797398" "45797398" "subst" "0" "04020" "MUTYH_000431" "g.45797398G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797398_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740975" "1" "50" "1" "45797435" "45797435" "subst" "0" "04020" "MUTYH_000439" "g.45797435C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797435_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740976" "1" "50" "1" "45797441" "45797441" "subst" "0" "04020" "MUTYH_000440" "g.45797441T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797441_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740977" "1" "50" "1" "45797458" "45797458" "subst" "0" "04020" "MUTYH_000444" "g.45797458C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797458_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740978" "1" "50" "1" "45797482" "45797482" "subst" "5.47664E-5" "04020" "MUTYH_000448" "g.45797482G>A" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797482_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740979" "1" "50" "1" "45797503" "45797503" "subst" "0" "04020" "MUTYH_000451" "g.45797503C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797503_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740980" "1" "50" "1" "45797698" "45797698" "subst" "0" "04020" "MUTYH_000135" "g.45797698A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797698_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740981" "1" "50" "1" "45797700" "45797700" "subst" "0" "04020" "MUTYH_000454" "g.45797700T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797700_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740982" "1" "50" "1" "45797746" "45797746" "subst" "0" "04020" "MUTYH_000460" "g.45797746G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797746_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740983" "1" "50" "1" "45797748" "45797748" "subst" "0" "04020" "MUTYH_000461" "g.45797748T>C" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797748_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740984" "1" "50" "1" "45797848" "45797848" "subst" "0" "04020" "MUTYH_000467" "g.45797848G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797848_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740985" "1" "50" "1" "45797857" "45797857" "subst" "0" "04020" "MUTYH_000471" "g.45797857A>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797857_A_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740986" "1" "50" "1" "45797860" "45797860" "subst" "0" "04020" "MUTYH_000473" "g.45797860C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797860_C_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740987" "1" "50" "1" "45797863" "45797863" "subst" "0" "04020" "MUTYH_000475" "g.45797863T>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797863_T_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740988" "1" "50" "1" "45797867" "45797867" "subst" "4.06326E-6" "04020" "MUTYH_000477" "g.45797867C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797867_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740989" "1" "50" "1" "45797930" "45797930" "subst" "0" "04020" "MUTYH_000486" "g.45797930C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797930_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740990" "1" "50" "1" "45797935" "45797935" "subst" "0" "04020" "MUTYH_000487" "g.45797935T>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797935_T_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740991" "1" "50" "1" "45797938" "45797938" "subst" "0" "04020" "MUTYH_000488" "g.45797938A>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797938_A_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740992" "1" "50" "1" "45797951" "45797951" "subst" "8.16247E-6" "04020" "MUTYH_000054" "g.45797951G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797951_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740993" "1" "50" "1" "45797957" "45797957" "subst" "4.0805E-6" "04020" "MUTYH_000489" "g.45797957G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797957_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740994" "1" "50" "1" "45797963" "45797963" "subst" "0" "04020" "MUTYH_000490" "g.45797963C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797963_C_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740995" "1" "50" "1" "45798067" "45798067" "subst" "0" "04020" "MUTYH_000494" "g.45798067G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798067_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740996" "1" "50" "1" "45798079" "45798079" "subst" "0" "04020" "MUTYH_000497" "g.45798079C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798079_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740997" "1" "50" "1" "45798111" "45798111" "subst" "8.14591E-6" "04020" "MUTYH_000502" "g.45798111C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798111_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740998" "1" "50" "1" "45798127" "45798127" "subst" "4.07209E-6" "04020" "MUTYH_000504" "g.45798127C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798127_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000740999" "1" "50" "1" "45798129" "45798129" "subst" "2.85074E-5" "04020" "MUTYH_000166" "g.45798129C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798129_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741000" "1" "50" "1" "45798157" "45798157" "subst" "4.06967E-6" "04020" "MUTYH_000510" "g.45798157T>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798157_T_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741001" "1" "50" "1" "45798328" "45798328" "subst" "4.06078E-6" "04020" "MUTYH_000518" "g.45798328C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798328_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741002" "1" "50" "1" "45798329" "45798329" "subst" "3.65476E-5" "04020" "MUTYH_000129" "g.45798329G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798329_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741003" "1" "50" "1" "45798448" "45798448" "subst" "0" "04020" "MUTYH_000523" "g.45798448T>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798448_T_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741004" "1" "50" "1" "45798452" "45798452" "subst" "0" "04020" "MUTYH_000524" "g.45798452G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798452_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741005" "1" "50" "1" "45798457" "45798457" "subst" "8.1211E-6" "04020" "MUTYH_000183" "g.45798457C>T" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798457_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741006" "1" "50" "1" "45798467" "45798467" "subst" "4.06055E-6" "04020" "MUTYH_000040" "g.45798467G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798467_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741007" "1" "50" "1" "45798487" "45798487" "subst" "0" "04020" "MUTYH_000529" "g.45798487G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798487_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741008" "1" "50" "1" "45798490" "45798490" "subst" "0" "04020" "MUTYH_000531" "g.45798490C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798490_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741009" "1" "50" "1" "45798624" "45798624" "subst" "0" "04020" "MUTYH_000038" "g.45798624G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798624_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741010" "1" "50" "1" "45798627" "45798627" "subst" "0" "04020" "MUTYH_000541" "g.45798627C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798627_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741011" "1" "50" "1" "45798629" "45798629" "subst" "0" "04020" "MUTYH_000543" "g.45798629C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798629_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741012" "1" "50" "1" "45798773" "45798773" "subst" "0" "04020" "MUTYH_000545" "g.45798773A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798773_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741013" "1" "50" "1" "45798785" "45798785" "subst" "0" "04020" "MUTYH_000551" "g.45798785T>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798785_T_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741014" "1" "50" "1" "45798788" "45798788" "subst" "0" "04020" "MUTYH_000552" "g.45798788T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798788_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741015" "1" "50" "1" "45798791" "45798791" "subst" "1.21823E-5" "04020" "MUTYH_000553" "g.45798791T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798791_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741016" "1" "50" "1" "45798792" "45798792" "subst" "0" "04020" "MUTYH_000554" "g.45798792T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798792_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741017" "1" "50" "1" "45798824" "45798824" "subst" "4.06147E-6" "04020" "MUTYH_000555" "g.45798824A>G" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798824_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741018" "1" "50" "1" "45798827" "45798827" "subst" "0" "04020" "MUTYH_000556" "g.45798827A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798827_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741019" "1" "50" "1" "45798836" "45798836" "subst" "0" "04020" "MUTYH_000560" "g.45798836A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798836_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741020" "1" "50" "1" "45798837" "45798837" "subst" "4.0618E-6" "04020" "MUTYH_000561" "g.45798837C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798837_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741021" "1" "50" "1" "45798843" "45798843" "subst" "0" "04020" "MUTYH_000110" "g.45798843C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798843_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741022" "1" "50" "1" "45798844" "45798844" "subst" "0" "04020" "MUTYH_000366" "g.45798844T>C" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798844_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741023" "1" "50" "1" "45798963" "45798963" "subst" "0" "04020" "MUTYH_000033" "g.45798963A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798963_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741024" "1" "50" "1" "45798973" "45798973" "subst" "0" "04020" "MUTYH_000565" "g.45798973G>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798973_G_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741025" "1" "50" "1" "45798990" "45798990" "subst" "0" "04020" "MUTYH_000566" "g.45798990C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798990_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741026" "1" "50" "1" "45799086" "45799086" "subst" "6.09132E-5" "04020" "HPDL_000037" "g.45799086C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799086_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741027" "1" "50" "1" "45799096" "45799096" "subst" "0" "04020" "MUTYH_000570" "g.45799096A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799096_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741028" "1" "50" "1" "45799195" "45799195" "subst" "0" "04020" "MUTYH_000582" "g.45799195A>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799195_A_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741029" "1" "50" "1" "45799207" "45799207" "subst" "0" "04020" "MUTYH_000585" "g.45799207C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799207_C_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741030" "1" "50" "1" "45799213" "45799213" "subst" "0" "04020" "MUTYH_000586" "g.45799213C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799213_C_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741031" "1" "50" "1" "45799258" "45799258" "subst" "0" "04020" "MUTYH_000594" "g.45799258C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799258_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741032" "1" "50" "1" "45799262" "45799262" "subst" "0" "04020" "MUTYH_000596" "g.45799262C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799262_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741033" "1" "50" "1" "45800062" "45800062" "subst" "0" "04020" "MUTYH_000367" "g.45800062C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800062_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741034" "1" "50" "1" "45800124" "45800124" "subst" "0" "04020" "MUTYH_000603" "g.45800124G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800124_G_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741035" "1" "50" "1" "45800129" "45800129" "subst" "0" "04020" "MUTYH_000604" "g.45800129C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800129_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741036" "1" "50" "1" "45800178" "45800178" "subst" "0" "04020" "MUTYH_000608" "g.45800178G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800178_G_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741037" "1" "50" "1" "45805895" "45805895" "subst" "0" "04020" "TOE1_000006" "g.45805895A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805895_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741038" "1" "50" "1" "45805896" "45805896" "subst" "0" "04020" "TOE1_000008" "g.45805896G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805896_G_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741039" "1" "50" "1" "45805907" "45805907" "subst" "0" "04020" "MUTYH_000256" "g.45805907C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805907_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741040" "1" "50" "1" "45805911" "45805911" "subst" "0" "04020" "TOE1_000010" "g.45805911A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805911_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741041" "1" "50" "1" "45805913" "45805913" "subst" "0" "04020" "TOE1_000011" "g.45805913A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805913_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741042" "1" "50" "1" "45805914" "45805914" "subst" "4.09038E-6" "04020" "TOE1_000012" "g.45805914C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805914_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741043" "1" "50" "1" "45805917" "45805917" "subst" "4.09005E-6" "04020" "TOE1_000013" "g.45805917G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805917_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000741044" "1" "50" "1" "45805919" "45805919" "subst" "4.09065E-6" "04020" "MUTYH_000178" "g.45805919G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805919_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743144" "1" "50" "1" "45797428" "45797429" "ins" "0" "04020" "MUTYH_000437" "g.45797428_45797429insCTGGC" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797426_T_TGCCTG" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743145" "1" "50" "1" "45797841" "45797842" "del" "0" "04020" "MUTYH_000465" "g.45797841_45797842del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797836_ACT_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743146" "1" "50" "1" "45797865" "45797865" "del" "0" "04020" "MUTYH_000476" "g.45797865del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797863_TC_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743147" "1" "50" "1" "45798105" "45798105" "del" "0" "04020" "MUTYH_000501" "g.45798105del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798103_CA_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743148" "1" "50" "1" "45799197" "45799197" "del" "0" "04020" "MUTYH_000583" "g.45799197del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799195_AG_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743244" "1" "50" "1" "45798316" "45798328" "delins" "0" "04020" "MUTYH_000517" "g.45798316_45798328delinsCAT" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798316_GTCTCTGCTGTAC_CAT" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743245" "1" "50" "1" "45795058" "45795059" "delins" "0" "04020" "MUTYH_000376" "g.45795058_45795059delinsCT" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795058_TG_CT" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743246" "1" "50" "1" "45799261" "45799262" "delins" "0" "04020" "MUTYH_000595" "g.45799261_45799262delinsAA" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799261_TC_AA" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743247" "1" "50" "1" "45796204" "45796204" "del" "0" "04020" "MUTYH_000388" "g.45796204del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796203_CT_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000743248" "1" "50" "1" "45798098" "45798098" "del" "0" "04020" "MUTYH_000500" "g.45798098del" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798097_CA_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747941" "1" "50" "1" "45794998" "45794998" "subst" "0" "04020" "MUTYH_000369" "g.45794998G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45794998_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747942" "1" "50" "1" "45795029" "45795029" "subst" "0" "04020" "MUTYH_000374" "g.45795029A>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795029_A_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747943" "1" "50" "1" "45795073" "45795073" "subst" "4.06105E-6" "04020" "MUTYH_000380" "g.45795073G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795073_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747944" "1" "50" "1" "45795081" "45795081" "subst" "0" "04020" "MUTYH_000381" "g.45795081G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795081_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747945" "1" "50" "1" "45795084" "45795084" "subst" "0" "04020" "MUTYH_000382" "g.45795084G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795084_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747946" "1" "50" "1" "45795109" "45795109" "subst" "0" "04020" "MUTYH_000384" "g.45795109C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795109_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747947" "1" "50" "1" "45796213" "45796213" "subst" "0" "04020" "MUTYH_000389" "g.45796213T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796213_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747948" "1" "50" "1" "45796220" "45796220" "subst" "0" "04020" "MUTYH_000390" "g.45796220C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796220_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747949" "1" "50" "1" "45796880" "45796880" "subst" "4.06065E-6" "04020" "MUTYH_000395" "g.45796880C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796880_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747950" "1" "50" "1" "45796900" "45796900" "subst" "1.62429E-5" "04020" "MUTYH_000197" "g.45796900G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796900_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747951" "1" "50" "1" "45796909" "45796909" "subst" "4.06062E-6" "04020" "MUTYH_000398" "g.45796909C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796909_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747952" "1" "50" "1" "45796912" "45796912" "subst" "0" "04020" "MUTYH_000399" "g.45796912G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796912_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747953" "1" "50" "1" "45797097" "45797097" "subst" "0" "04020" "MUTYH_000406" "g.45797097C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797097_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747954" "1" "50" "1" "45797120" "45797120" "subst" "0" "04020" "MUTYH_000409" "g.45797120G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797120_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747955" "1" "50" "1" "45797123" "45797123" "subst" "0" "04020" "MUTYH_000410" "g.45797123A>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797123_A_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747956" "1" "50" "1" "45797124" "45797124" "subst" "4.06246E-6" "04020" "MUTYH_000411" "g.45797124G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797124_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747957" "1" "50" "1" "45797133" "45797133" "subst" "0" "04020" "MUTYH_000415" "g.45797133C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797133_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747958" "1" "50" "1" "45797138" "45797138" "subst" "4.06336E-6" "04020" "MUTYH_000416" "g.45797138C>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797138_C_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747959" "1" "50" "1" "45797138" "45797138" "subst" "4.06336E-6" "04020" "MUTYH_000417" "g.45797138C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797138_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747960" "1" "50" "1" "45797196" "45797196" "subst" "8.14206E-6" "04020" "MUTYH_000422" "g.45797196C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797196_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747961" "1" "50" "1" "45797199" "45797199" "subst" "0" "04020" "MUTYH_000423" "g.45797199A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797199_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747962" "1" "50" "1" "45797347" "45797347" "subst" "0" "04020" "MUTYH_000427" "g.45797347T>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797347_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747963" "1" "50" "1" "45797377" "45797377" "subst" "0" "04020" "MUTYH_000428" "g.45797377C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797377_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747964" "1" "50" "1" "45797404" "45797404" "subst" "4.06527E-6" "04020" "MUTYH_000432" "g.45797404G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797404_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747965" "1" "50" "1" "45797414" "45797414" "subst" "0" "04020" "MUTYH_000433" "g.45797414C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797414_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747966" "1" "50" "1" "45797420" "45797420" "subst" "8.13829E-6" "04020" "MUTYH_000435" "g.45797420G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797420_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747967" "1" "50" "1" "45797423" "45797423" "subst" "8.1406E-6" "04020" "MUTYH_000436" "g.45797423G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797423_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747968" "1" "50" "1" "45797430" "45797430" "subst" "0" "04020" "MUTYH_000438" "g.45797430G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797430_G_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747969" "1" "50" "1" "45797446" "45797446" "subst" "0" "04020" "MUTYH_000442" "g.45797446A>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797446_A_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747970" "1" "50" "1" "45797464" "45797464" "subst" "4.12099E-6" "04020" "MUTYH_000445" "g.45797464G>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797464_G_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747971" "1" "50" "1" "45797474" "45797474" "subst" "0" "04020" "MUTYH_000447" "g.45797474A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797474_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747972" "1" "50" "1" "45797491" "45797491" "subst" "0" "04020" "MUTYH_000450" "g.45797491A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797491_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747973" "1" "50" "1" "45797507" "45797507" "subst" "6.56846E-5" "04020" "MUTYH_000062" "g.45797507G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797507_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747974" "1" "50" "1" "45797701" "45797701" "subst" "0" "04020" "MUTYH_000455" "g.45797701C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797701_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747975" "1" "50" "1" "45797701" "45797701" "subst" "4.06154E-6" "04020" "MUTYH_000217" "g.45797701C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797701_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747976" "1" "50" "1" "45797721" "45797721" "subst" "1.21833E-5" "04020" "MUTYH_000456" "g.45797721G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797721_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747977" "1" "50" "1" "45797742" "45797742" "subst" "0" "04020" "MUTYH_000459" "g.45797742A>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797742_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747978" "1" "50" "1" "45797758" "45797758" "subst" "0" "04020" "MUTYH_000462" "g.45797758C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797758_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747979" "1" "50" "1" "45797861" "45797861" "subst" "0" "04020" "MUTYH_000474" "g.45797861T>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797861_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747980" "1" "50" "1" "45797871" "45797871" "subst" "0" "04020" "MUTYH_000480" "g.45797871G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797871_G_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747981" "1" "50" "1" "45797876" "45797876" "subst" "0" "04020" "MUTYH_000481" "g.45797876G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797876_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747982" "1" "50" "1" "45797887" "45797887" "subst" "1.62583E-5" "04020" "MUTYH_000018" "g.45797887G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797887_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747983" "1" "50" "1" "45797897" "45797897" "subst" "0" "04020" "MUTYH_000483" "g.45797897G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797897_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747984" "1" "50" "1" "45797924" "45797924" "subst" "0" "04020" "MUTYH_000484" "g.45797924T>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797924_T_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747985" "1" "50" "1" "45797980" "45797980" "subst" "0" "04020" "MUTYH_000492" "g.45797980C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797980_C_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747986" "1" "50" "1" "45798063" "45798063" "subst" "0" "04020" "MUTYH_000493" "g.45798063C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798063_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747987" "1" "50" "1" "45798068" "45798068" "subst" "0" "04020" "MUTYH_000495" "g.45798068C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798068_C_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747988" "1" "50" "1" "45798068" "45798068" "subst" "4.07292E-6" "04020" "MUTYH_000496" "g.45798068C>G" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798068_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747989" "1" "50" "1" "45798082" "45798082" "subst" "0" "04020" "MUTYH_000498" "g.45798082G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798082_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747990" "1" "50" "1" "45798115" "45798115" "subst" "5.70395E-5" "04020" "MUTYH_000053" "g.45798115C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798115_C_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747991" "1" "50" "1" "45798132" "45798132" "subst" "8.14326E-6" "04020" "MUTYH_000506" "g.45798132G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798132_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747992" "1" "50" "1" "45798138" "45798138" "subst" "0" "04020" "MUTYH_000195" "g.45798138T>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798138_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747993" "1" "50" "1" "45798144" "45798144" "subst" "0" "04020" "MUTYH_000509" "g.45798144T>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798144_T_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747994" "1" "50" "1" "45798161" "45798161" "subst" "0" "04020" "MUTYH_000511" "g.45798161C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798161_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747995" "1" "50" "1" "45798260" "45798260" "subst" "4.062E-6" "04020" "MUTYH_000046" "g.45798260T>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798260_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747996" "1" "50" "1" "45798271" "45798271" "subst" "0" "04020" "MUTYH_000251" "g.45798271G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798271_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747997" "1" "50" "1" "45798287" "45798287" "subst" "0" "04020" "MUTYH_000514" "g.45798287G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798287_G_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747998" "1" "50" "1" "45798305" "45798305" "subst" "4.06105E-6" "04020" "MUTYH_000515" "g.45798305G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798305_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000747999" "1" "50" "1" "45798308" "45798308" "subst" "4.06095E-6" "04020" "MUTYH_000202" "g.45798308G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798308_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748000" "1" "50" "1" "45798316" "45798316" "subst" "4.06098E-6" "04020" "MUTYH_000516" "g.45798316G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798316_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748001" "1" "50" "1" "45798350" "45798350" "subst" "0" "04020" "MUTYH_000520" "g.45798350C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798350_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748002" "1" "50" "1" "45798440" "45798440" "subst" "1.21818E-5" "04020" "MUTYH_000049" "g.45798440G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798440_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748003" "1" "50" "1" "45798442" "45798442" "subst" "0" "04020" "MUTYH_000521" "g.45798442G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798442_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748004" "1" "50" "1" "45798461" "45798461" "subst" "1.21818E-5" "04020" "MUTYH_000035" "g.45798461G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798461_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748005" "1" "50" "1" "45798470" "45798470" "subst" "4.06055E-6" "04020" "MUTYH_000527" "g.45798470A>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798470_A_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748006" "1" "50" "1" "45798506" "45798506" "subst" "0" "04020" "MUTYH_000534" "g.45798506C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798506_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748007" "1" "50" "1" "45798613" "45798613" "subst" "0" "04020" "MUTYH_000536" "g.45798613C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798613_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748008" "1" "50" "1" "45798616" "45798616" "subst" "4.07894E-6" "04020" "MUTYH_000537" "g.45798616G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798616_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748009" "1" "50" "1" "45798621" "45798621" "subst" "8.1578E-6" "04020" "MUTYH_000538" "g.45798621G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798621_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748010" "1" "50" "1" "45798622" "45798622" "subst" "0" "04020" "MUTYH_000539" "g.45798622T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798622_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748011" "1" "50" "1" "45798625" "45798625" "subst" "0" "04020" "MUTYH_000540" "g.45798625G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798625_G_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748012" "1" "50" "1" "45798774" "45798774" "subst" "0" "04020" "MUTYH_000546" "g.45798774T>C" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798774_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748013" "1" "50" "1" "45798780" "45798780" "subst" "0" "04020" "MUTYH_000548" "g.45798780C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798780_C_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748014" "1" "50" "1" "45798830" "45798830" "subst" "0" "04020" "MUTYH_000557" "g.45798830T>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798830_T_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748015" "1" "50" "1" "45798830" "45798830" "subst" "0" "04020" "MUTYH_000558" "g.45798830T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798830_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748016" "1" "50" "1" "45798834" "45798834" "subst" "0" "04020" "MUTYH_000559" "g.45798834A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798834_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748017" "1" "50" "1" "45798840" "45798840" "subst" "0" "04020" "MUTYH_000562" "g.45798840A>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798840_A_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748018" "1" "50" "1" "45798840" "45798840" "subst" "0" "04020" "MUTYH_000563" "g.45798840A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798840_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748019" "1" "50" "1" "45798993" "45798993" "subst" "0" "04020" "HPDL_000007" "g.45798993C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798993_C_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748020" "1" "50" "1" "45799090" "45799090" "subst" "0" "04020" "MUTYH_000568" "g.45799090T>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799090_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748021" "1" "50" "1" "45799092" "45799092" "subst" "0" "04020" "MUTYH_000569" "g.45799092C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799092_C_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748022" "1" "50" "1" "45799099" "45799099" "subst" "0" "04020" "MUTYH_000571" "g.45799099G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799099_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748023" "1" "50" "1" "45799107" "45799107" "subst" "4.06075E-6" "04020" "MUTYH_000572" "g.45799107C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799107_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748024" "1" "50" "1" "45799111" "45799111" "subst" "0" "04020" "MUTYH_000573" "g.45799111T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799111_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748025" "1" "50" "1" "45799126" "45799126" "subst" "0" "04020" "MUTYH_000181" "g.45799126A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799126_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748026" "1" "50" "1" "45799135" "45799135" "subst" "0" "04020" "MUTYH_000574" "g.45799135G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799135_G_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748027" "1" "50" "1" "45799144" "45799144" "subst" "1.21819E-5" "04020" "MUTYH_000029" "g.45799144G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799144_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748028" "1" "50" "1" "45799149" "45799149" "subst" "0" "04020" "MUTYH_000576" "g.45799149G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799149_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748029" "1" "50" "1" "45799158" "45799158" "subst" "4.06058E-6" "04020" "MUTYH_000577" "g.45799158T>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799158_T_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748030" "1" "50" "1" "45799165" "45799165" "subst" "8.1213E-6" "04020" "MUTYH_000579" "g.45799165C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799165_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748031" "1" "50" "1" "45799189" "45799189" "subst" "1.21823E-5" "04020" "MUTYH_000581" "g.45799189A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799189_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748032" "1" "50" "1" "45799201" "45799201" "subst" "0" "04020" "MUTYH_000584" "g.45799201G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799201_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748033" "1" "50" "1" "45799218" "45799218" "subst" "1.62532E-5" "04020" "MUTYH_000587" "g.45799218G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799218_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748034" "1" "50" "1" "45799221" "45799221" "subst" "4.06349E-6" "04020" "MUTYH_000588" "g.45799221T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799221_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748035" "1" "50" "1" "45799246" "45799246" "subst" "0" "04020" "MUTYH_000589" "g.45799246C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799246_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748036" "1" "50" "1" "45799251" "45799251" "subst" "0" "04020" "MUTYH_000590" "g.45799251C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799251_C_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748037" "1" "50" "1" "45799257" "45799257" "subst" "0" "04020" "MUTYH_000592" "g.45799257G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799257_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748038" "1" "50" "1" "45800066" "45800066" "subst" "8.12275E-6" "04020" "MUTYH_000597" "g.45800066C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800066_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748039" "1" "50" "1" "45800089" "45800089" "subst" "0" "04020" "MUTYH_000598" "g.45800089C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800089_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748040" "1" "50" "1" "45800091" "45800091" "subst" "4.06078E-6" "04020" "MUTYH_000599" "g.45800091G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800091_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748041" "1" "50" "1" "45800095" "45800095" "subst" "1.2182E-5" "04020" "MUTYH_000600" "g.45800095T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800095_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748042" "1" "50" "1" "45800111" "45800111" "subst" "4.06068E-6" "04020" "MUTYH_000601" "g.45800111G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800111_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748043" "1" "50" "1" "45800122" "45800122" "subst" "0" "04020" "MUTYH_000602" "g.45800122T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800122_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748044" "1" "50" "1" "45800159" "45800159" "subst" "0" "04020" "MUTYH_000606" "g.45800159C>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800159_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748045" "1" "50" "1" "45800176" "45800176" "subst" "8.12183E-6" "04020" "MUTYH_000607" "g.45800176A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800176_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748046" "1" "50" "1" "45800180" "45800180" "subst" "0" "04020" "MUTYH_000609" "g.45800180T>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800180_T_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748047" "1" "50" "1" "45800182" "45800182" "subst" "1.2183E-5" "04020" "MUTYH_000610" "g.45800182G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800182_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748048" "1" "50" "1" "45800182" "45800182" "subst" "0" "04020" "MUTYH_000611" "g.45800182G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800182_G_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748049" "1" "50" "1" "45800183" "45800183" "subst" "0" "04020" "MUTYH_000612" "g.45800183C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800183_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748050" "1" "50" "1" "45805890" "45805890" "subst" "0" "04020" "MUTYH_000224" "g.45805890C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805890_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000748051" "1" "50" "1" "45805895" "45805895" "subst" "4.08447E-6" "04020" "TOE1_000007" "g.45805895A>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805895_A_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000750176" "1" "50" "1" "45797188" "45797189" "dup" "0" "04020" "MUTYH_000078" "g.45797188_45797189dup" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797186_T_TCC" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000750177" "1" "50" "1" "45797374" "45797374" "del" "0" "04020" "MUTYH_000069" "g.45797374del" "20/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797371_AG_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000750215" "1" "50" "1" "45797505" "45797506" "delins" "0" "04020" "MUTYH_000452" "g.45797505_45797506delinsGC" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797505_CT_GC" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753385" "1" "50" "1" "45795006" "45795006" "subst" "4.06058E-6" "04020" "MUTYH_000370" "g.45795006G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795006_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753386" "1" "50" "1" "45795013" "45795013" "subst" "8.12117E-6" "04020" "MUTYH_000372" "g.45795013T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795013_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753387" "1" "50" "1" "45795027" "45795027" "subst" "0.00255411" "04020" "MUTYH_000096" "g.45795027C>T" "5/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795027_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753388" "1" "50" "1" "45795028" "45795028" "subst" "4.06062E-6" "04020" "MUTYH_000335" "g.45795028G>A" "6/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795028_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753389" "1" "50" "1" "45795040" "45795040" "subst" "6.49704E-5" "04020" "MUTYH_000351" "g.45795040C>A" "7/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795040_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753390" "1" "50" "1" "45795040" "45795040" "subst" "1.21819E-5" "04020" "MUTYH_000375" "g.45795040C>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795040_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753391" "1" "50" "1" "45795043" "45795043" "subst" "0.00341909" "04020" "MUTYH_000177" "g.45795043G>T" "23/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795043_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753392" "1" "50" "1" "45795060" "45795060" "subst" "8.12163E-6" "04020" "MUTYH_000377" "g.45795060C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795060_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753393" "1" "50" "1" "45795061" "45795061" "subst" "8.1217E-5" "04020" "MUTYH_000215" "g.45795061G>A" "6/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795061_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753394" "1" "50" "1" "45795072" "45795072" "subst" "2.43661E-5" "04020" "MUTYH_000379" "g.45795072C>T" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795072_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753395" "1" "50" "1" "45795081" "45795081" "subst" "1.62455E-5" "04020" "MUTYH_000095" "g.45795081G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795081_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753396" "1" "50" "1" "45795091" "45795091" "subst" "8.12348E-6" "04020" "MUTYH_000336" "g.45795091C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795091_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753397" "1" "50" "1" "45796212" "45796212" "subst" "8.40838E-6" "04020" "MUTYH_000117" "g.45796212C>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796212_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753398" "1" "50" "1" "45796222" "45796222" "subst" "2.54102E-5" "04020" "MUTYH_000391" "g.45796222C>T" "7/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796222_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753399" "1" "50" "1" "45796223" "45796223" "subst" "3.39636E-5" "04020" "MUTYH_000392" "g.45796223G>A" "6/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796223_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753400" "1" "50" "1" "45796229" "45796229" "subst" "0" "04020" "MUTYH_000143" "g.45796229C>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796229_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753401" "1" "50" "1" "45796865" "45796865" "subst" "3.65515E-5" "04020" "MUTYH_000059" "g.45796865C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796865_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753402" "1" "50" "1" "45796882" "45796882" "subst" "0" "04020" "MUTYH_000396" "g.45796882G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796882_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753403" "1" "50" "1" "45796895" "45796895" "subst" "4.06062E-6" "04020" "MUTYH_000142" "g.45796895C>A" "8/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796895_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753404" "1" "50" "1" "45796895" "45796895" "subst" "3.65456E-5" "04020" "MUTYH_000174" "g.45796895C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796895_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753405" "1" "50" "1" "45796910" "45796910" "subst" "4.46668E-5" "04020" "MUTYH_000277" "g.45796910G>A" "18/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796910_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753406" "1" "50" "1" "45796913" "45796913" "subst" "4.06058E-5" "04020" "MUTYH_000084" "g.45796913C>T" "9/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796913_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753407" "1" "50" "1" "45796916" "45796916" "subst" "4.06055E-6" "04020" "MUTYH_000400" "g.45796916C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796916_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753408" "1" "50" "1" "45796925" "45796925" "subst" "1.62423E-5" "04020" "MUTYH_000401" "g.45796925C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796925_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753409" "1" "50" "1" "45796937" "45796937" "subst" "6.90299E-5" "04020" "MUTYH_000339" "g.45796937G>C" "6/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796937_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753410" "1" "50" "1" "45796970" "45796970" "subst" "1.21818E-5" "04020" "MUTYH_000404" "g.45796970G>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796970_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753411" "1" "50" "1" "45796999" "45796999" "subst" "8.12123E-6" "04020" "MUTYH_000405" "g.45796999T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796999_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753412" "1" "50" "1" "45797099" "45797099" "subst" "4.06187E-6" "04020" "MUTYH_000332" "g.45797099A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797099_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753413" "1" "50" "1" "45797105" "45797105" "subst" "4.062E-6" "04020" "MUTYH_000150" "g.45797105C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797105_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753414" "1" "50" "1" "45797106" "45797106" "subst" "2.43734E-5" "04020" "MUTYH_000407" "g.45797106G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797106_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753415" "1" "50" "1" "45797114" "45797114" "subst" "4.0622E-5" "04020" "MUTYH_000223" "g.45797114G>A" "9/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797114_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753416" "1" "50" "1" "45797126" "45797126" "subst" "1.625E-5" "04020" "MUTYH_000412" "g.45797126G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797126_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753417" "1" "50" "1" "45797151" "45797151" "subst" "4.06435E-6" "04020" "MUTYH_000418" "g.45797151G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797151_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753418" "1" "50" "1" "45797157" "45797157" "subst" "0.000573124" "04020" "MUTYH_000141" "g.45797157G>T" "49/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797157_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753419" "1" "50" "1" "45797159" "45797159" "subst" "2.43912E-5" "04020" "MUTYH_000419" "g.45797159G>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797159_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753420" "1" "50" "1" "45797160" "45797160" "subst" "6.90956E-5" "04020" "MUTYH_000280" "g.45797160C>T" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797160_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753421" "1" "50" "1" "45797201" "45797201" "subst" "7.32965E-5" "04020" "MUTYH_000077" "g.45797201G>A" "12/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797201_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753422" "1" "50" "1" "45797230" "45797230" "subst" "2.04017E-5" "04020" "MUTYH_000022" "g.45797230T>C" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797230_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753423" "1" "50" "1" "45797348" "45797348" "subst" "1.62882E-5" "04020" "MUTYH_000072" "g.45797348G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797348_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753424" "1" "50" "1" "45797401" "45797401" "subst" "0.000365883" "04020" "MUTYH_000109" "g.45797401G>A" "72/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797401_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753425" "1" "50" "1" "45797416" "45797416" "subst" "0" "04020" "MUTYH_000434" "g.45797416C>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797416_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753426" "1" "50" "1" "45797428" "45797428" "subst" "2.03772E-5" "04020" "MUTYH_000216" "g.45797428C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797428_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753427" "1" "50" "1" "45797443" "45797443" "subst" "4.08934E-6" "04020" "MUTYH_000139" "g.45797443G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797443_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753428" "1" "50" "1" "45797444" "45797444" "subst" "1.22685E-5" "04020" "MUTYH_000441" "g.45797444G>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797444_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753429" "1" "50" "1" "45797447" "45797447" "subst" "2.04593E-5" "04020" "MUTYH_000443" "g.45797447A>G" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797447_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753430" "1" "50" "1" "45797464" "45797464" "subst" "8.24198E-6" "04020" "MUTYH_000446" "g.45797464G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797464_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753431" "1" "50" "1" "45797482" "45797482" "subst" "2.52768E-5" "04020" "MUTYH_000449" "g.45797482G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797482_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753432" "1" "50" "1" "45797515" "45797515" "subst" "0" "04020" "HPDL_000012" "g.45797515T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797515_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753433" "1" "50" "1" "45797519" "45797519" "subst" "1.33412E-5" "04020" "MUTYH_000327" "g.45797519G>C" "5/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797519_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753434" "1" "50" "1" "45797521" "45797521" "subst" "0" "04020" "MUTYH_000453" "g.45797521G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797521_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753435" "1" "50" "1" "45797707" "45797707" "subst" "8.52882E-5" "04020" "MUTYH_000289" "g.45797707C>T" "11/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797707_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753436" "1" "50" "1" "45797731" "45797731" "subst" "0" "04020" "MUTYH_000457" "g.45797731C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797731_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753437" "1" "50" "1" "45797731" "45797731" "subst" "1.62442E-5" "04020" "MUTYH_000458" "g.45797731C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797731_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753438" "1" "50" "1" "45797752" "45797752" "subst" "1.21828E-5" "04020" "MUTYH_000119" "g.45797752G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797752_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753439" "1" "50" "1" "45797760" "45797760" "subst" "0.00108835" "04020" "MUTYH_000098" "g.45797760T>C" "253/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797760_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753440" "1" "50" "1" "45797837" "45797837" "subst" "0" "04020" "MUTYH_000463" "g.45797837C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797837_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753441" "1" "50" "1" "45797839" "45797839" "subst" "0.000105611" "04020" "MUTYH_000464" "g.45797839C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797839_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753442" "1" "50" "1" "45797845" "45797845" "subst" "1.21872E-5" "04020" "MUTYH_000466" "g.45797845C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797845_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753443" "1" "50" "1" "45797846" "45797846" "subst" "0.000455003" "04020" "MUTYH_000019" "g.45797846G>A" "117/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797846_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753444" "1" "50" "1" "45797851" "45797851" "subst" "7.71925E-5" "04020" "MUTYH_000468" "g.45797851C>T" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797851_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753445" "1" "50" "1" "45797852" "45797852" "subst" "2.4376E-5" "04020" "MUTYH_000469" "g.45797852G>A" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797852_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753446" "1" "50" "1" "45797853" "45797853" "subst" "0" "04020" "MUTYH_000470" "g.45797853G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797853_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753447" "1" "50" "1" "45797859" "45797859" "subst" "4.06286E-6" "04020" "MUTYH_000472" "g.45797859G>C" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797859_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753448" "1" "50" "1" "45797867" "45797867" "subst" "8.12651E-6" "04020" "MUTYH_000478" "g.45797867C>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797867_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753449" "1" "50" "1" "45797870" "45797870" "subst" "0" "04020" "MUTYH_000479" "g.45797870G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797870_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753450" "1" "50" "1" "45797878" "45797878" "subst" "1.62543E-5" "04020" "MUTYH_000482" "g.45797878C>T" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797878_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753451" "1" "50" "1" "45797890" "45797890" "subst" "4.87769E-5" "04020" "MUTYH_000348" "g.45797890C>T" "5/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797890_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753452" "1" "50" "1" "45797891" "45797891" "subst" "2.84574E-5" "04020" "HPDL_000035" "g.45797891G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797891_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753453" "1" "50" "1" "45797914" "45797914" "subst" "2.44089E-5" "04020" "MUTYH_000191" "g.45797914C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797914_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753454" "1" "50" "1" "45797924" "45797924" "subst" "4.06964E-6" "04020" "MUTYH_000017" "g.45797924T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797924_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753455" "1" "50" "1" "45797929" "45797929" "subst" "1.22132E-5" "04020" "MUTYH_000485" "g.45797929G>A" "5/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797929_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753456" "1" "50" "1" "45797950" "45797950" "subst" "0.000171457" "04020" "MUTYH_000055" "g.45797950C>T" "24/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797950_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753457" "1" "50" "1" "45797972" "45797972" "subst" "1.63291E-5" "04020" "MUTYH_000192" "g.45797972G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797972_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753458" "1" "50" "1" "45797974" "45797974" "subst" "8.1642E-6" "04020" "MUTYH_000325" "g.45797974G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797974_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753459" "1" "50" "1" "45798084" "45798084" "subst" "3.66593E-5" "04020" "MUTYH_000499" "g.45798084G>A" "6/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798084_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753460" "1" "50" "1" "45798112" "45798112" "subst" "4.08383E-6" "04020" "MUTYH_000016" "g.45798112G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798112_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753461" "1" "50" "1" "45798115" "45798115" "subst" "8.1485E-6" "04020" "MUTYH_000503" "g.45798115C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798115_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753462" "1" "50" "1" "45798117" "45798117" "subst" "7.74013E-5" "04020" "MUTYH_000051" "g.45798117C>T" "15/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798117_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753463" "1" "50" "1" "45798118" "45798118" "subst" "5.29614E-5" "04020" "MUTYH_000132" "g.45798118G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798118_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753464" "1" "50" "1" "45798127" "45798127" "subst" "2.44326E-5" "04020" "MUTYH_000505" "g.45798127C>A" "6/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798127_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753465" "1" "50" "1" "45798130" "45798130" "subst" "6.92447E-5" "04020" "MUTYH_000050" "g.45798130G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798130_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753466" "1" "50" "1" "45798133" "45798133" "subst" "8.14219E-6" "04020" "MUTYH_000507" "g.45798133C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798133_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753467" "1" "50" "1" "45798136" "45798136" "subst" "2.44276E-5" "04020" "MUTYH_000508" "g.45798136C>T" "8/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798136_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753468" "1" "50" "1" "45798151" "45798151" "subst" "8.13968E-5" "04020" "MUTYH_000047" "g.45798151C>T" "9/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798151_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753469" "1" "50" "1" "45798250" "45798250" "subst" "2.03123E-5" "04020" "MUTYH_000512" "g.45798250C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798250_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753470" "1" "50" "1" "45798251" "45798251" "subst" "4.06243E-6" "04020" "MUTYH_000513" "g.45798251C>T" "6/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798251_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753471" "1" "50" "1" "45798257" "45798257" "subst" "3.65649E-5" "04020" "MUTYH_000353" "g.45798257C>T" "18/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798257_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753472" "1" "50" "1" "45798269" "45798269" "subst" "0.000215279" "04020" "MUTYH_000045" "g.45798269T>C" "29/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798269_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753473" "1" "50" "1" "45798286" "45798286" "subst" "2.84294E-5" "04020" "MUTYH_000130" "g.45798286C>T" "5/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798286_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753474" "1" "50" "1" "45798287" "45798287" "subst" "4.87393E-5" "04020" "HPDL_000003" "g.45798287G>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798287_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753475" "1" "50" "1" "45798293" "45798293" "subst" "4.87349E-5" "04020" "MUTYH_000204" "g.45798293C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798293_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753476" "1" "50" "1" "45798328" "45798328" "subst" "2.03039E-5" "04020" "HPDL_000004" "g.45798328C>G" "9/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798328_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753477" "1" "50" "1" "45798348" "45798348" "subst" "2.03036E-5" "04020" "MUTYH_000519" "g.45798348C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798348_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753478" "1" "50" "1" "45798350" "45798350" "subst" "4.06072E-6" "04020" "MUTYH_000120" "g.45798350C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798350_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753479" "1" "50" "1" "45798439" "45798439" "subst" "6.09093E-5" "04020" "MUTYH_000167" "g.45798439C>T" "5/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798439_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753480" "1" "50" "1" "45798447" "45798447" "subst" "4.06055E-6" "04020" "MUTYH_000522" "g.45798447C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798447_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753481" "1" "50" "1" "45798458" "45798458" "subst" "1.21817E-5" "04020" "MUTYH_000190" "g.45798458G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798458_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753482" "1" "50" "1" "45798460" "45798460" "subst" "2.03028E-5" "04020" "MUTYH_000103" "g.45798460C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798460_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753483" "1" "50" "1" "45798463" "45798463" "subst" "4.06055E-6" "04020" "MUTYH_000525" "g.45798463C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798463_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753484" "1" "50" "1" "45798466" "45798466" "subst" "0" "04020" "MUTYH_000526" "g.45798466C>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798466_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753485" "1" "50" "1" "45798466" "45798466" "subst" "8.12123E-6" "04020" "MUTYH_000041" "g.45798466C>T" "5/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798466_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753486" "1" "50" "1" "45798470" "45798470" "subst" "4.06055E-6" "04020" "MUTYH_000528" "g.45798470A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798470_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753487" "1" "50" "1" "45798488" "45798488" "subst" "2.03037E-5" "04020" "MUTYH_000530" "g.45798488C>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798488_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753488" "1" "50" "1" "45798503" "45798503" "subst" "0" "04020" "MUTYH_000532" "g.45798503C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798503_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753489" "1" "50" "1" "45798504" "45798504" "subst" "2.84269E-5" "04020" "MUTYH_000533" "g.45798504C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798504_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753490" "1" "50" "1" "45798601" "45798601" "subst" "3.6691E-5" "04020" "MUTYH_000535" "g.45798601C>T" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798601_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753491" "1" "50" "1" "45798613" "45798613" "subst" "8.56437E-5" "04020" "MUTYH_000225" "g.45798613C>G" "5/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798613_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753492" "1" "50" "1" "45798627" "45798627" "subst" "5.71088E-5" "04020" "MUTYH_000542" "g.45798627C>T" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798627_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753493" "1" "50" "1" "45798770" "45798770" "subst" "0" "04020" "MUTYH_000544" "g.45798770T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798770_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753494" "1" "50" "1" "45798776" "45798776" "subst" "0" "04020" "MUTYH_000547" "g.45798776C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798776_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753495" "1" "50" "1" "45798780" "45798780" "subst" "1.21824E-5" "04020" "MUTYH_000549" "g.45798780C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798780_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753496" "1" "50" "1" "45798783" "45798783" "subst" "0" "04020" "MUTYH_000550" "g.45798783T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798783_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753497" "1" "50" "1" "45798968" "45798968" "subst" "2.43762E-5" "04020" "MUTYH_000564" "g.45798968C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798968_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753498" "1" "50" "1" "45798969" "45798969" "subst" "6.09389E-5" "04020" "MUTYH_000125" "g.45798969G>A" "5/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798969_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753499" "1" "50" "1" "45799087" "45799087" "subst" "6.09132E-5" "04020" "MUTYH_000567" "g.45799087G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799087_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753500" "1" "50" "1" "45799108" "45799108" "subst" "3.65473E-5" "04020" "MUTYH_000008" "g.45799108G>A" "10/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799108_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753501" "1" "50" "1" "45799121" "45799121" "subst" "0.000121822" "04020" "MUTYH_000032" "g.45799121G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799121_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753502" "1" "50" "1" "45799136" "45799136" "subst" "3.24855E-5" "04020" "MUTYH_000575" "g.45799136G>C" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799136_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753503" "1" "50" "1" "45799143" "45799143" "subst" "1.21819E-5" "04020" "MUTYH_000266" "g.45799143C>T" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799143_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753504" "1" "50" "1" "45799159" "45799159" "subst" "0" "04020" "MUTYH_000578" "g.45799159C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799159_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753505" "1" "50" "1" "45799182" "45799182" "subst" "4.06072E-6" "04020" "MUTYH_000580" "g.45799182T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799182_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753506" "1" "50" "1" "45799254" "45799254" "subst" "4.08243E-6" "04020" "MUTYH_000591" "g.45799254T>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799254_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753507" "1" "50" "1" "45799257" "45799257" "subst" "0" "04020" "MUTYH_000593" "g.45799257G>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799257_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753508" "1" "50" "1" "45799266" "45799266" "subst" "8.21241E-6" "04020" "MUTYH_000357" "g.45799266C>A" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799266_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753509" "1" "50" "1" "45799266" "45799266" "subst" "2.87434E-5" "04020" "HPDL_000038" "g.45799266C>T" "8/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799266_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753510" "1" "50" "1" "45800122" "45800122" "subst" "4.06062E-6" "04020" "MUTYH_000264" "g.45800122T>G" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800122_T_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753511" "1" "50" "1" "45800150" "45800150" "subst" "4.06068E-6" "04020" "MUTYH_000605" "g.45800150T>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800150_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753512" "1" "50" "1" "45800164" "45800164" "subst" "2.84245E-5" "04020" "MUTYH_000153" "g.45800164C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800164_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753513" "1" "50" "1" "45800165" "45800165" "subst" "8.1217E-6" "04020" "MUTYH_000205" "g.45800165G>A" "6/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800165_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753514" "1" "50" "1" "45805898" "45805898" "subst" "4.085E-6" "04020" "TOE1_000009" "g.45805898C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805898_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753515" "1" "50" "1" "45805919" "45805919" "subst" "6.9541E-5" "04020" "TOE1_000014" "g.45805919G>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805919_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000753516" "1" "50" "1" "45805925" "45805925" "subst" "8.19618E-6" "04020" "MUTYH_000360" "g.45805925A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805925_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754950" "1" "50" "1" "45797188" "45797189" "dup" "0" "04020" "MUTYH_000078" "g.45797188_45797189dup" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797186_T_TCC" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754951" "1" "50" "1" "45797374" "45797374" "del" "0" "04020" "MUTYH_000069" "g.45797374del" "7/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797371_AG_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754989" "1" "50" "1" "45797505" "45797506" "delins" "0" "04020" "MUTYH_000452" "g.45797505_45797506delinsGC" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797505_CT_GC" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758159" "1" "50" "1" "45795006" "45795006" "subst" "4.06058E-6" "04020" "MUTYH_000370" "g.45795006G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795006_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758160" "1" "50" "1" "45795013" "45795013" "subst" "8.12117E-6" "04020" "MUTYH_000372" "g.45795013T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795013_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758161" "1" "50" "1" "45795027" "45795027" "subst" "0.00255411" "04020" "MUTYH_000096" "g.45795027C>T" "13/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795027_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758162" "1" "50" "1" "45795028" "45795028" "subst" "4.06062E-6" "04020" "MUTYH_000335" "g.45795028G>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795028_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758163" "1" "50" "1" "45795040" "45795040" "subst" "6.49704E-5" "04020" "MUTYH_000351" "g.45795040C>A" "6/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795040_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758164" "1" "50" "1" "45795040" "45795040" "subst" "1.21819E-5" "04020" "MUTYH_000375" "g.45795040C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795040_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758165" "1" "50" "1" "45795043" "45795043" "subst" "0.00341909" "04020" "MUTYH_000177" "g.45795043G>T" "32/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795043_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758166" "1" "50" "1" "45795060" "45795060" "subst" "8.12163E-6" "04020" "MUTYH_000377" "g.45795060C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795060_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758167" "1" "50" "1" "45795061" "45795061" "subst" "8.1217E-5" "04020" "MUTYH_000215" "g.45795061G>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795061_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758168" "1" "50" "1" "45795072" "45795072" "subst" "2.43661E-5" "04020" "MUTYH_000379" "g.45795072C>T" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795072_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758169" "1" "50" "1" "45795081" "45795081" "subst" "1.62455E-5" "04020" "MUTYH_000095" "g.45795081G>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795081_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758170" "1" "50" "1" "45795091" "45795091" "subst" "8.12348E-6" "04020" "MUTYH_000336" "g.45795091C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45795091_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758171" "1" "50" "1" "45796212" "45796212" "subst" "8.40838E-6" "04020" "MUTYH_000117" "g.45796212C>G" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796212_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758172" "1" "50" "1" "45796222" "45796222" "subst" "2.54102E-5" "04020" "MUTYH_000391" "g.45796222C>T" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796222_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758173" "1" "50" "1" "45796223" "45796223" "subst" "3.39636E-5" "04020" "MUTYH_000392" "g.45796223G>A" "6/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796223_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758174" "1" "50" "1" "45796229" "45796229" "subst" "0" "04020" "MUTYH_000143" "g.45796229C>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796229_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758175" "1" "50" "1" "45796865" "45796865" "subst" "3.65515E-5" "04020" "MUTYH_000059" "g.45796865C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796865_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758176" "1" "50" "1" "45796882" "45796882" "subst" "0" "04020" "MUTYH_000396" "g.45796882G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796882_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758177" "1" "50" "1" "45796895" "45796895" "subst" "4.06062E-6" "04020" "MUTYH_000142" "g.45796895C>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796895_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758178" "1" "50" "1" "45796895" "45796895" "subst" "3.65456E-5" "04020" "MUTYH_000174" "g.45796895C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796895_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758179" "1" "50" "1" "45796910" "45796910" "subst" "4.46668E-5" "04020" "MUTYH_000277" "g.45796910G>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796910_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758180" "1" "50" "1" "45796913" "45796913" "subst" "4.06058E-5" "04020" "MUTYH_000084" "g.45796913C>T" "6/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796913_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758181" "1" "50" "1" "45796916" "45796916" "subst" "4.06055E-6" "04020" "MUTYH_000400" "g.45796916C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796916_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758182" "1" "50" "1" "45796925" "45796925" "subst" "1.62423E-5" "04020" "MUTYH_000401" "g.45796925C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796925_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758183" "1" "50" "1" "45796937" "45796937" "subst" "6.90299E-5" "04020" "MUTYH_000339" "g.45796937G>C" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796937_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758184" "1" "50" "1" "45796970" "45796970" "subst" "1.21818E-5" "04020" "MUTYH_000404" "g.45796970G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796970_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758185" "1" "50" "1" "45796999" "45796999" "subst" "8.12123E-6" "04020" "MUTYH_000405" "g.45796999T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45796999_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758186" "1" "50" "1" "45797099" "45797099" "subst" "4.06187E-6" "04020" "MUTYH_000332" "g.45797099A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797099_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758187" "1" "50" "1" "45797105" "45797105" "subst" "4.062E-6" "04020" "MUTYH_000150" "g.45797105C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797105_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758188" "1" "50" "1" "45797106" "45797106" "subst" "2.43734E-5" "04020" "MUTYH_000407" "g.45797106G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797106_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758189" "1" "50" "1" "45797114" "45797114" "subst" "4.0622E-5" "04020" "MUTYH_000223" "g.45797114G>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797114_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758190" "1" "50" "1" "45797126" "45797126" "subst" "1.625E-5" "04020" "MUTYH_000412" "g.45797126G>A" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797126_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758191" "1" "50" "1" "45797151" "45797151" "subst" "4.06435E-6" "04020" "MUTYH_000418" "g.45797151G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797151_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758192" "1" "50" "1" "45797157" "45797157" "subst" "0.000573124" "04020" "MUTYH_000141" "g.45797157G>T" "38/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797157_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758193" "1" "50" "1" "45797159" "45797159" "subst" "2.43912E-5" "04020" "MUTYH_000419" "g.45797159G>T" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797159_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758194" "1" "50" "1" "45797160" "45797160" "subst" "6.90956E-5" "04020" "MUTYH_000280" "g.45797160C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797160_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758195" "1" "50" "1" "45797201" "45797201" "subst" "7.32965E-5" "04020" "MUTYH_000077" "g.45797201G>A" "18/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797201_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758196" "1" "50" "1" "45797230" "45797230" "subst" "2.04017E-5" "04020" "MUTYH_000022" "g.45797230T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797230_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758197" "1" "50" "1" "45797348" "45797348" "subst" "1.62882E-5" "04020" "MUTYH_000072" "g.45797348G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797348_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758198" "1" "50" "1" "45797401" "45797401" "subst" "0.000365883" "04020" "MUTYH_000109" "g.45797401G>A" "79/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797401_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758199" "1" "50" "1" "45797416" "45797416" "subst" "0" "04020" "MUTYH_000434" "g.45797416C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797416_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758200" "1" "50" "1" "45797428" "45797428" "subst" "2.03772E-5" "04020" "MUTYH_000216" "g.45797428C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797428_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758201" "1" "50" "1" "45797443" "45797443" "subst" "4.08934E-6" "04020" "MUTYH_000139" "g.45797443G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797443_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758202" "1" "50" "1" "45797444" "45797444" "subst" "1.22685E-5" "04020" "MUTYH_000441" "g.45797444G>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797444_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758203" "1" "50" "1" "45797447" "45797447" "subst" "2.04593E-5" "04020" "MUTYH_000443" "g.45797447A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797447_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758204" "1" "50" "1" "45797464" "45797464" "subst" "8.24198E-6" "04020" "MUTYH_000446" "g.45797464G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797464_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758205" "1" "50" "1" "45797482" "45797482" "subst" "2.52768E-5" "04020" "MUTYH_000449" "g.45797482G>C" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797482_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758206" "1" "50" "1" "45797515" "45797515" "subst" "0" "04020" "HPDL_000012" "g.45797515T>C" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797515_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758207" "1" "50" "1" "45797519" "45797519" "subst" "1.33412E-5" "04020" "MUTYH_000327" "g.45797519G>C" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797519_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758208" "1" "50" "1" "45797521" "45797521" "subst" "0" "04020" "MUTYH_000453" "g.45797521G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797521_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758209" "1" "50" "1" "45797707" "45797707" "subst" "8.52882E-5" "04020" "MUTYH_000289" "g.45797707C>T" "18/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797707_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758210" "1" "50" "1" "45797731" "45797731" "subst" "0" "04020" "MUTYH_000457" "g.45797731C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797731_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758211" "1" "50" "1" "45797731" "45797731" "subst" "1.62442E-5" "04020" "MUTYH_000458" "g.45797731C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797731_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758212" "1" "50" "1" "45797752" "45797752" "subst" "1.21828E-5" "04020" "MUTYH_000119" "g.45797752G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797752_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758213" "1" "50" "1" "45797760" "45797760" "subst" "0.00108835" "04020" "MUTYH_000098" "g.45797760T>C" "236/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797760_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758214" "1" "50" "1" "45797837" "45797837" "subst" "0" "04020" "MUTYH_000463" "g.45797837C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797837_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758215" "1" "50" "1" "45797839" "45797839" "subst" "0.000105611" "04020" "MUTYH_000464" "g.45797839C>T" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797839_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758216" "1" "50" "1" "45797845" "45797845" "subst" "1.21872E-5" "04020" "MUTYH_000466" "g.45797845C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797845_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758217" "1" "50" "1" "45797846" "45797846" "subst" "0.000455003" "04020" "MUTYH_000019" "g.45797846G>A" "98/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797846_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758218" "1" "50" "1" "45797851" "45797851" "subst" "7.71925E-5" "04020" "MUTYH_000468" "g.45797851C>T" "6/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797851_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758219" "1" "50" "1" "45797852" "45797852" "subst" "2.4376E-5" "04020" "MUTYH_000469" "g.45797852G>A" "7/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797852_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758220" "1" "50" "1" "45797853" "45797853" "subst" "0" "04020" "MUTYH_000470" "g.45797853G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797853_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758221" "1" "50" "1" "45797859" "45797859" "subst" "4.06286E-6" "04020" "MUTYH_000472" "g.45797859G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797859_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758222" "1" "50" "1" "45797867" "45797867" "subst" "8.12651E-6" "04020" "MUTYH_000478" "g.45797867C>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797867_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758223" "1" "50" "1" "45797870" "45797870" "subst" "0" "04020" "MUTYH_000479" "g.45797870G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797870_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758224" "1" "50" "1" "45797878" "45797878" "subst" "1.62543E-5" "04020" "MUTYH_000482" "g.45797878C>T" "9/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797878_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758225" "1" "50" "1" "45797890" "45797890" "subst" "4.87769E-5" "04020" "MUTYH_000348" "g.45797890C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797890_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758226" "1" "50" "1" "45797891" "45797891" "subst" "2.84574E-5" "04020" "HPDL_000035" "g.45797891G>A" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797891_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758227" "1" "50" "1" "45797914" "45797914" "subst" "2.44089E-5" "04020" "MUTYH_000191" "g.45797914C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797914_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758228" "1" "50" "1" "45797924" "45797924" "subst" "4.06964E-6" "04020" "MUTYH_000017" "g.45797924T>C" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797924_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758229" "1" "50" "1" "45797929" "45797929" "subst" "1.22132E-5" "04020" "MUTYH_000485" "g.45797929G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797929_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758230" "1" "50" "1" "45797950" "45797950" "subst" "0.000171457" "04020" "MUTYH_000055" "g.45797950C>T" "26/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797950_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758231" "1" "50" "1" "45797972" "45797972" "subst" "1.63291E-5" "04020" "MUTYH_000192" "g.45797972G>A" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797972_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758232" "1" "50" "1" "45797974" "45797974" "subst" "8.1642E-6" "04020" "MUTYH_000325" "g.45797974G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45797974_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758233" "1" "50" "1" "45798084" "45798084" "subst" "3.66593E-5" "04020" "MUTYH_000499" "g.45798084G>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798084_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758234" "1" "50" "1" "45798112" "45798112" "subst" "4.08383E-6" "04020" "MUTYH_000016" "g.45798112G>A" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798112_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758235" "1" "50" "1" "45798115" "45798115" "subst" "8.1485E-6" "04020" "MUTYH_000503" "g.45798115C>T" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798115_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758236" "1" "50" "1" "45798117" "45798117" "subst" "7.74013E-5" "04020" "MUTYH_000051" "g.45798117C>T" "14/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798117_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758237" "1" "50" "1" "45798118" "45798118" "subst" "5.29614E-5" "04020" "MUTYH_000132" "g.45798118G>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798118_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758238" "1" "50" "1" "45798127" "45798127" "subst" "2.44326E-5" "04020" "MUTYH_000505" "g.45798127C>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798127_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758239" "1" "50" "1" "45798130" "45798130" "subst" "6.92447E-5" "04020" "MUTYH_000050" "g.45798130G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798130_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758240" "1" "50" "1" "45798133" "45798133" "subst" "8.14219E-6" "04020" "MUTYH_000507" "g.45798133C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798133_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758241" "1" "50" "1" "45798136" "45798136" "subst" "2.44276E-5" "04020" "MUTYH_000508" "g.45798136C>T" "6/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798136_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758242" "1" "50" "1" "45798151" "45798151" "subst" "8.13968E-5" "04020" "MUTYH_000047" "g.45798151C>T" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798151_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758243" "1" "50" "1" "45798250" "45798250" "subst" "2.03123E-5" "04020" "MUTYH_000512" "g.45798250C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798250_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758244" "1" "50" "1" "45798251" "45798251" "subst" "4.06243E-6" "04020" "MUTYH_000513" "g.45798251C>T" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798251_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758245" "1" "50" "1" "45798257" "45798257" "subst" "3.65649E-5" "04020" "MUTYH_000353" "g.45798257C>T" "17/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798257_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758246" "1" "50" "1" "45798269" "45798269" "subst" "0.000215279" "04020" "MUTYH_000045" "g.45798269T>C" "25/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798269_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758247" "1" "50" "1" "45798286" "45798286" "subst" "2.84294E-5" "04020" "MUTYH_000130" "g.45798286C>T" "8/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798286_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758248" "1" "50" "1" "45798287" "45798287" "subst" "4.87393E-5" "04020" "HPDL_000003" "g.45798287G>A" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798287_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758249" "1" "50" "1" "45798293" "45798293" "subst" "4.87349E-5" "04020" "MUTYH_000204" "g.45798293C>T" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798293_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758250" "1" "50" "1" "45798328" "45798328" "subst" "2.03039E-5" "04020" "HPDL_000004" "g.45798328C>G" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798328_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758251" "1" "50" "1" "45798348" "45798348" "subst" "2.03036E-5" "04020" "MUTYH_000519" "g.45798348C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798348_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758252" "1" "50" "1" "45798350" "45798350" "subst" "4.06072E-6" "04020" "MUTYH_000120" "g.45798350C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798350_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758253" "1" "50" "1" "45798439" "45798439" "subst" "6.09093E-5" "04020" "MUTYH_000167" "g.45798439C>T" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798439_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758254" "1" "50" "1" "45798447" "45798447" "subst" "4.06055E-6" "04020" "MUTYH_000522" "g.45798447C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798447_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758255" "1" "50" "1" "45798458" "45798458" "subst" "1.21817E-5" "04020" "MUTYH_000190" "g.45798458G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798458_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758256" "1" "50" "1" "45798460" "45798460" "subst" "2.03028E-5" "04020" "MUTYH_000103" "g.45798460C>T" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798460_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758257" "1" "50" "1" "45798463" "45798463" "subst" "4.06055E-6" "04020" "MUTYH_000525" "g.45798463C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798463_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758258" "1" "50" "1" "45798466" "45798466" "subst" "0" "04020" "MUTYH_000526" "g.45798466C>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798466_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758259" "1" "50" "1" "45798466" "45798466" "subst" "8.12123E-6" "04020" "MUTYH_000041" "g.45798466C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798466_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758260" "1" "50" "1" "45798470" "45798470" "subst" "4.06055E-6" "04020" "MUTYH_000528" "g.45798470A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798470_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758261" "1" "50" "1" "45798488" "45798488" "subst" "2.03037E-5" "04020" "MUTYH_000530" "g.45798488C>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798488_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758262" "1" "50" "1" "45798503" "45798503" "subst" "0" "04020" "MUTYH_000532" "g.45798503C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798503_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758263" "1" "50" "1" "45798504" "45798504" "subst" "2.84269E-5" "04020" "MUTYH_000533" "g.45798504C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798504_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758264" "1" "50" "1" "45798601" "45798601" "subst" "3.6691E-5" "04020" "MUTYH_000535" "g.45798601C>T" "11/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798601_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758265" "1" "50" "1" "45798613" "45798613" "subst" "8.56437E-5" "04020" "MUTYH_000225" "g.45798613C>G" "14/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798613_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758266" "1" "50" "1" "45798627" "45798627" "subst" "5.71088E-5" "04020" "MUTYH_000542" "g.45798627C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798627_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758267" "1" "50" "1" "45798770" "45798770" "subst" "0" "04020" "MUTYH_000544" "g.45798770T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798770_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758268" "1" "50" "1" "45798776" "45798776" "subst" "0" "04020" "MUTYH_000547" "g.45798776C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798776_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758269" "1" "50" "1" "45798780" "45798780" "subst" "1.21824E-5" "04020" "MUTYH_000549" "g.45798780C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798780_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758270" "1" "50" "1" "45798783" "45798783" "subst" "0" "04020" "MUTYH_000550" "g.45798783T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798783_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758271" "1" "50" "1" "45798968" "45798968" "subst" "2.43762E-5" "04020" "MUTYH_000564" "g.45798968C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798968_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758272" "1" "50" "1" "45798969" "45798969" "subst" "6.09389E-5" "04020" "MUTYH_000125" "g.45798969G>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45798969_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758273" "1" "50" "1" "45799087" "45799087" "subst" "6.09132E-5" "04020" "MUTYH_000567" "g.45799087G>A" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799087_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758274" "1" "50" "1" "45799108" "45799108" "subst" "3.65473E-5" "04020" "MUTYH_000008" "g.45799108G>A" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799108_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758275" "1" "50" "1" "45799121" "45799121" "subst" "0.000121822" "04020" "MUTYH_000032" "g.45799121G>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799121_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758276" "1" "50" "1" "45799136" "45799136" "subst" "3.24855E-5" "04020" "MUTYH_000575" "g.45799136G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799136_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758277" "1" "50" "1" "45799143" "45799143" "subst" "1.21819E-5" "04020" "MUTYH_000266" "g.45799143C>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799143_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758278" "1" "50" "1" "45799159" "45799159" "subst" "0" "04020" "MUTYH_000578" "g.45799159C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799159_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758279" "1" "50" "1" "45799182" "45799182" "subst" "4.06072E-6" "04020" "MUTYH_000580" "g.45799182T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799182_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758280" "1" "50" "1" "45799254" "45799254" "subst" "4.08243E-6" "04020" "MUTYH_000591" "g.45799254T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799254_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758281" "1" "50" "1" "45799257" "45799257" "subst" "0" "04020" "MUTYH_000593" "g.45799257G>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799257_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758282" "1" "50" "1" "45799266" "45799266" "subst" "8.21241E-6" "04020" "MUTYH_000357" "g.45799266C>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799266_C_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758283" "1" "50" "1" "45799266" "45799266" "subst" "2.87434E-5" "04020" "HPDL_000038" "g.45799266C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45799266_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758284" "1" "50" "1" "45800122" "45800122" "subst" "4.06062E-6" "04020" "MUTYH_000264" "g.45800122T>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800122_T_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758285" "1" "50" "1" "45800150" "45800150" "subst" "4.06068E-6" "04020" "MUTYH_000605" "g.45800150T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800150_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758286" "1" "50" "1" "45800164" "45800164" "subst" "2.84245E-5" "04020" "MUTYH_000153" "g.45800164C>T" "4/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800164_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758287" "1" "50" "1" "45800165" "45800165" "subst" "8.1217E-6" "04020" "MUTYH_000205" "g.45800165G>A" "8/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45800165_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758288" "1" "50" "1" "45805898" "45805898" "subst" "4.085E-6" "04020" "TOE1_000009" "g.45805898C>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805898_C_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758289" "1" "50" "1" "45805919" "45805919" "subst" "6.9541E-5" "04020" "TOE1_000014" "g.45805919G>C" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805919_G_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000758290" "1" "50" "1" "45805925" "45805925" "subst" "8.19618E-6" "04020" "MUTYH_000360" "g.45805925A>G" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr1_45805925_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000765957" "0" "70" "8" "72211429" "72211429" "subst" "2.03067E-5" "00000" "MUTYH_000003" "g.72211429C>G" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.71299194C>G" "" "likely pathogenic" "" "0000765958" "0" "70" "8" "72267106" "72267106" "subst" "0.000227406" "00000" "MUTYH_000595" "g.72267106C>T" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.71354871C>T" "" "likely pathogenic" "" "0000765959" "0" "70" "8" "72246359" "72246359" "subst" "2.03209E-5" "00000" "MUTYH_000594" "g.72246359C>T" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.71334124C>T" "" "likely pathogenic" "" "0000765960" "0" "70" "8" "72211927" "72211927" "subst" "6.92363E-5" "00000" "MUTYH_000004" "g.72211927T>C" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.71299692T>C" "" "likely pathogenic" "" "0000789662" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00585" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic (!)" "ACMG" "0000789666" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "00585" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic (!)" "ACMG" "0000799391" "0" "10" "1" "45796881" "45796881" "subst" "0.00295618" "02369" "MUTYH_000261" "g.45796881G>A" "" "" "" "MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799392" "0" "50" "1" "45797133" "45797133" "subst" "0" "02327" "MUTYH_000415" "g.45797133C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799393" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02369" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799394" "0" "50" "1" "45797464" "45797464" "subst" "8.24198E-6" "01804" "MUTYH_000446" "g.45797464G>A" "" "" "" "MUTYH(NM_001048171.1):c.1013C>T (p.(Thr338Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799395" "0" "30" "1" "45798155" "45798155" "subst" "2.03533E-5" "02369" "MUTYH_000352" "g.45798155G>A" "" "" "" "MUTYH(NM_001128425.1):c.696C>T (p.T232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799396" "0" "50" "1" "45798257" "45798257" "subst" "3.65649E-5" "02330" "MUTYH_000353" "g.45798257C>T" "" "" "" "MUTYH(NM_001128425.2):c.679G>A (p.A227T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799397" "0" "10" "1" "45799074" "45799074" "subst" "0.00166508" "01804" "MUTYH_000108" "g.45799074C>T" "" "" "" "MUTYH(NM_001048171.1):c.306+11G>A (p.(=)), MUTYH(NM_001128425.2):c.348+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799398" "0" "30" "1" "45799266" "45799266" "subst" "8.21241E-6" "02330" "MUTYH_000357" "g.45799266C>A" "" "" "" "MUTYH(NM_001128425.1):c.167G>T (p.G56V), MUTYH(NM_001128425.2):c.167G>T (p.G56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799399" "0" "30" "1" "45799988" "45799988" "subst" "0" "02369" "MUTYH_000154" "g.45799988C>T" "" "" "" "MUTYH(NM_001128425.1):c.157+75G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799400" "0" "30" "1" "45807784" "45807784" "subst" "0.000484753" "01943" "TESK2_000015" "g.45807784G>A" "" "" "" "TOE1(NM_025077.4):c.492+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000845021" "0" "90" "1" "45800165" "45800165" "subst" "8.1217E-6" "00006" "MUTYH_000205" "g.45800165G>A" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45334493G>A" "" "pathogenic" "" "0000845022" "0" "90" "1" "45800165" "45800165" "subst" "8.1217E-6" "00006" "MUTYH_000205" "g.45800165G>A" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45334493G>A" "" "pathogenic" "" "0000845095" "0" "50" "1" "45797401" "45797401" "subst" "0.000365883" "00006" "MUTYH_000109" "g.45797401G>A" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "NM_001048171.1:1076C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45331729G>A" "" "VUS" "" "0000845096" "0" "50" "1" "45797760" "45797760" "subst" "0.00108835" "00006" "MUTYH_000098" "g.45797760T>C" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "NM_001048171.1:892-2A>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45332088T>C" "" "VUS" "" "0000848751" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "01804" "MUTYH_000050" "g.45798130G>A" "" "" "" "MUTYH(NM_001128425.1):c.721C>T (p.(Arg241Trp)), MUTYH(NM_001128425.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848752" "0" "70" "1" "45808055" "45808055" "subst" "8.15042E-6" "02329" "TESK2_000016" "g.45808055G>A" "" "" "" "TOE1(NM_025077.4):c.493-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000848753" "0" "50" "1" "45809156" "45809156" "subst" "3.65464E-5" "01943" "TESK2_000017" "g.45809156C>T" "" "" "" "TOE1(NM_025077.4):c.1315C>T (p.R439W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848754" "0" "50" "1" "45809180" "45809180" "subst" "4.46682E-5" "02329" "TESK2_000018" "g.45809180A>T" "" "" "" "TOE1(NM_025077.3):c.1339A>T (p.(Thr447Ser)), TOE1(NM_025077.4):c.1339A>T (p.T447S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857511" "0" "30" "1" "45795027" "45795027" "subst" "0.00255411" "01804" "MUTYH_000096" "g.45795027C>T" "" "" "" "MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857512" "0" "90" "1" "45797188" "45797189" "dup" "0" "01804" "MUTYH_000078" "g.45797188_45797189dup" "" "" "" "MUTYH(NM_001048171.1):c.1185_1186dup (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_1228..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857513" "0" "50" "1" "45797519" "45797519" "subst" "1.33412E-5" "01804" "MUTYH_000327" "g.45797519G>C" "" "" "" "MUTYH(NM_001048171.1):c.958C>G (p.(Pro320Ala)), MUTYH(NM_001128425.1):c.1000C>G (p.P334A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857514" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "01804" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869109" "0" "90" "1" "45798472" "45798472" "subst" "0" "00006" "MUTYH_000613" "g.45798472T>C" "" "{PMID:Schuermans 2022:35606766}" "" "p.Tyr152Cys" "secondary finding" "Germline/De novo (untested)" "" "" "0" "" "" "g.45332800T>C" "" "pathogenic" "" "0000876519" "0" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "03514" "MUTYH_000088" "g.45796892C>A" "" "Sheth, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000876541" "0" "90" "1" "45796892" "45796892" "subst" "6.09097E-5" "03514" "MUTYH_000088" "g.45796892C>A" "" "Sheth, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.45331220C>A" "" "pathogenic" "" "0000883470" "0" "30" "1" "45797114" "45797114" "subst" "4.0622E-5" "02330" "MUTYH_000223" "g.45797114G>A" "" "" "" "MUTYH(NM_001128425.2):c.1301C>T (p.T434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883471" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02329" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883472" "0" "50" "1" "45797157" "45797157" "subst" "0.000573124" "02325" "MUTYH_000141" "g.45797157G>T" "" "" "" "MUTYH(NM_001128425.2):c.1258C>A (p.L420M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883473" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02326" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883474" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02325" "MUTYH_000072" "g.45797348G>A" "" "" "" "MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377Ter)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883476" "0" "30" "1" "45797828" "45797828" "subst" "0" "02327" "HPDL_000043" "g.45797828G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883477" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02326" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883478" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "02325" "MUTYH_000051" "g.45798117C>T" "" "" "" "MUTYH(NM_001048171.1):c.692G>A (p.(Arg231His)), MUTYH(NM_001128425.2):c.734G>A (p.R245H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911080" "0" "30" "1" "45796881" "45796881" "subst" "0.00295618" "02327" "MUTYH_000261" "g.45796881G>A" "" "" "" "MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911081" "0" "30" "1" "45797157" "45797157" "subst" "0.000573124" "02327" "MUTYH_000141" "g.45797157G>T" "" "" "" "MUTYH(NM_001128425.2):c.1258C>A (p.L420M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911082" "0" "30" "1" "45797958" "45797958" "subst" "5.30521E-5" "01804" "HPDL_000044" "g.45797958G>A" "" "" "" "MUTYH(NM_001048171.1):c.771C>T (p.(Asp257=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911083" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "01804" "MUTYH_000051" "g.45798117C>T" "" "" "" "MUTYH(NM_001048171.1):c.692G>A (p.(Arg231His)), MUTYH(NM_001128425.2):c.734G>A (p.R245H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000916949" "0" "90" "1" "45798561" "45798573" "del" "0" "01082" "MUTYH_000091" "g.45798561_45798573del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45332889_45332901del" "406825" "pathogenic (recessive)" "ACMG" "0000917057" "0" "90" "1" "45798319" "45798319" "subst" "0" "01082" "MUTYH_000614" "g.45798319T>C" "" "" "" "536A>G (Tyr179Cys)" "" "Germline" "" "" "0" "" "" "" "533304" "pathogenic" "ACMG" "0000918606" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01082" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "5293" "pathogenic (dominant)" "ACMG" "0000918701" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01082" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "5294" "pathogenic (recessive)" "ACMG" "0000920381" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01082" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "5294" "pathogenic (recessive)" "ACMG" "0000920385" "0" "90" "1" "45798115" "45798115" "subst" "5.70395E-5" "01082" "MUTYH_000053" "g.45798115C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45332443C>A" "135990" "pathogenic (recessive)" "ACMG" "0000920399" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01082" "MUTYH_000012" "g.45798475T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45332803T>C" "5293" "pathogenic (recessive)" "ACMG" "0000920402" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01082" "MUTYH_000075" "g.45797228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45331556C>T" "5294" "pathogenic (recessive)" "ACMG" "0000923193" "0" "30" "1" "45795060" "45795060" "subst" "8.12163E-6" "02327" "MUTYH_000377" "g.45795060C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923194" "0" "90" "1" "45796895" "45796895" "subst" "4.06062E-6" "02325" "MUTYH_000142" "g.45796895C>A" "" "" "" "MUTYH(NM_001128425.2):c.1435G>T (p.E479*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923195" "0" "90" "1" "45796895" "45796897" "del" "0" "02329" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923196" "0" "90" "1" "45797126" "45797135" "del" "0" "02325" "HPDL_000045" "g.45797126_45797135del" "" "" "" "MUTYH(NM_001128425.2):c.1280_1289delGGGCTGGGCC (p.W427Sfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923197" "0" "90" "1" "45797423" "45797423" "del" "0" "02327" "MUTYH_000196" "g.45797423del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923198" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "01804" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923199" "0" "70" "1" "45798138" "45798138" "subst" "0" "01804" "MUTYH_000195" "g.45798138T>C" "" "" "" "MUTYH(NM_001048171.1):c.671A>G (p.(Asn224Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928180" "0" "50" "1" "45797878" "45797878" "subst" "1.62543E-5" "02327" "MUTYH_000482" "g.45797878C>T" "" "" "" "MUTYH(NM_001128425.2):c.893G>A (p.S298N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947253" "0" "30" "1" "45795043" "45795043" "subst" "0.00341909" "02327" "MUTYH_000177" "g.45795043G>T" "" "" "" "MUTYH(NM_001048171.1):c.1543C>A (p.(Leu515Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947254" "0" "90" "1" "45796895" "45796897" "del" "0" "01804" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947255" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "01804" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947256" "0" "70" "1" "45797481" "45797481" "subst" "4.62033E-5" "02329" "MUTYH_000064" "g.45797481C>T" "" "" "" "MUTYH(NM_001128425.2):c.1038G>A (p.S346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947257" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02329" "MUTYH_000097" "g.45797835T>G" "" "" "" "MUTYH(NM_001128425.2):c.933+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947258" "0" "50" "1" "45797878" "45797878" "subst" "1.62543E-5" "02329" "MUTYH_000482" "g.45797878C>T" "" "" "" "MUTYH(NM_001128425.2):c.893G>A (p.S298N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947259" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "01804" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947260" "0" "30" "1" "45798418" "45798418" "subst" "1.62423E-5" "01804" "HPDL_000048" "g.45798418T>C" "" "" "" "MUTYH(NM_001048171.1):c.534+17A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952103" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "04599" "MUTYH_000075" "g.45797228C>T" "" "" "" "Gly396_Glu13splice" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000952104" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "04599" "MUTYH_000075" "g.45797228C>T" "" "" "" "Gly396_Glu13splice" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000952105" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "04599" "MUTYH_000075" "g.45797228C>T" "" "" "" "Gly396_Glu13splice" "" "Germline" "" "rs36053993" "0" "" "" "g.45331556C>T" "" "pathogenic" "ACMG" "0000952106" "0" "90" "1" "45799276" "45799276" "subst" "0" "04599" "MUTYH_000615" "g.45799276C>A" "" "" "" "Asp53_Glu3splice" "" "Germline" "" "" "0" "" "" "g.45333604C>A" "" "pathogenic" "ACMG" "0000954911" "1" "70" "8" "72267020" "72267020" "subst" "6.09127E-5" "00006" "EYA1_000210" "g.72267020C>T" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71354785C>T" "" "likely pathogenic (dominant)" "" "0000961066" "0" "10" "1" "45795027" "45795027" "subst" "0.00255411" "02326" "MUTYH_000096" "g.45795027C>T" "" "" "" "MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000961067" "0" "30" "1" "45798225" "45798225" "subst" "0.00721521" "02329" "MUTYH_000070" "g.45798225G>T" "" "" "" "MUTYH(NM_001128425.1):c.690+21C>A, MUTYH(NM_001128425.2):c.690+21C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961068" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "02325" "MUTYH_000007" "g.45799120C>T" "" "" "" "MUTYH(NM_001128425.1):c.313G>A (p.D105N), MUTYH(NM_001128425.2):c.313G>A (p.D105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961069" "0" "30" "1" "45799166" "45799166" "subst" "4.06062E-5" "02327" "HPDL_000050" "g.45799166G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961070" "0" "30" "1" "45799211" "45799211" "subst" "4.06227E-6" "02327" "HPDL_000009" "g.45799211C>T" "" "" "" "MUTYH(NM_001128425.2):c.222G>A (p.E74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961071" "0" "30" "1" "45805564" "45805564" "subst" "6.05657E-6" "01804" "TESK2_000019" "g.45805564C>T" "" "" "" "MUTYH(NM_001048172.1):c.-7+84G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973998" "0" "50" "1" "45793695" "45793695" "subst" "4.06233E-6" "01804" "HPDL_000051" "g.45793695G>A" "" "" "" "HPDL(NM_032756.4):c.875G>A (p.(Gly292Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973999" "0" "50" "1" "45793712" "45793712" "subst" "4.06184E-6" "01804" "HPDL_000052" "g.45793712C>T" "" "" "" "HPDL(NM_032756.4):c.892C>T (p.(Arg298*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974000" "0" "10" "1" "45796899" "45796899" "subst" "0.00454804" "02326" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974001" "0" "50" "1" "45796910" "45796910" "subst" "4.46668E-5" "02329" "MUTYH_000277" "g.45796910G>A" "" "" "" "MUTYH(NM_001128425.2):c.1420C>T (p.R474C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974002" "0" "30" "1" "45797255" "45797255" "subst" "0.0036991" "02329" "MUTYH_000104" "g.45797255G>A" "" "" "" "MUTYH(NM_001128425.2):c.1187-27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974003" "0" "90" "1" "45797915" "45797915" "del" "0" "02329" "MUTYH_000263" "g.45797915del" "" "" "" "MUTYH(NM_001128425.2):c.859delG (p.A287Pfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974004" "0" "10" "1" "45800146" "45800146" "subst" "0.00103547" "02326" "MUTYH_000026" "g.45800146C>T" "" "" "" "MUTYH(NM_001048174.2):c.32G>A (p.(Gly11Asp)), MUTYH(NM_001128425.1):c.74G>A (p.G25D), MUTYH(NM_001128425.2):c.74G>A (p.G25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974005" "0" "10" "1" "45800167" "45800167" "subst" "0.00103553" "02326" "MUTYH_000024" "g.45800167G>A" "" "" "" "MUTYH(NM_001048174.2):c.11C>T (p.(Pro4Leu)), MUTYH(NM_001128425.1):c.53C>T (p.P18L), MUTYH(NM_001128425.2):c.53C>T (p.P18L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974006" "0" "10" "1" "45805880" "45805880" "subst" "0.00332968" "02326" "MUTYH_000003" "g.45805880G>A" "" "" "" "MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, MUTYH(NM_001128425.2):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974007" "0" "30" "1" "45807784" "45807784" "subst" "0.000484753" "01804" "TESK2_000015" "g.45807784G>A" "" "" "" "TOE1(NM_025077.4):c.492+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991320" "0" "50" "1" "45809180" "45809180" "subst" "4.46682E-5" "01804" "TESK2_000018" "g.45809180A>T" "" "" "" "TOE1(NM_025077.3):c.1339A>T (p.(Thr447Ser)), TOE1(NM_025077.4):c.1339A>T (p.T447S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013324" "0" "30" "1" "45800146" "45800146" "subst" "0.00103547" "02329" "MUTYH_000026" "g.45800146C>T" "" "" "" "MUTYH(NM_001048174.2):c.32G>A (p.(Gly11Asp)), MUTYH(NM_001128425.1):c.74G>A (p.G25D), MUTYH(NM_001128425.2):c.74G>A (p.G25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013325" "0" "30" "1" "45800167" "45800167" "subst" "0.00103553" "02329" "MUTYH_000024" "g.45800167G>A" "" "" "" "MUTYH(NM_001048174.2):c.11C>T (p.(Pro4Leu)), MUTYH(NM_001128425.1):c.53C>T (p.P18L), MUTYH(NM_001128425.2):c.53C>T (p.P18L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016673" "0" "90" "1" "45799108" "45799108" "subst" "3.65473E-5" "04749" "MUTYH_000008" "g.45799108G>A" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.45333436G>A" "" "pathogenic" "" "0001016674" "0" "90" "1" "45796186" "45796186" "del" "0" "04749" "MUTYH_000616" "g.45796186del" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.45330514del" "" "pathogenic" "" "0001016680" "0" "90" "1" "45796895" "45796895" "subst" "4.06062E-6" "04749" "MUTYH_000142" "g.45796895C>A" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.45331223C>A" "" "pathogenic" "" "0001016695" "0" "90" "1" "45798627" "45798627" "subst" "5.71088E-5" "04749" "MUTYH_000542" "g.45798627C>T" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.45332955C>T" "" "pathogenic" "" "0001024181" "0" "50" "1" "45798461" "45798461" "subst" "1.21818E-5" "02327" "MUTYH_000035" "g.45798461G>A" "" "" "" "MUTYH(NM_001128425.2):c.550C>T (p.R184W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024182" "0" "90" "1" "45798812" "45798812" "del" "0" "01804" "MUTYH_000061" "g.45798812del" "" "" "" "MUTYH(NM_001128425.1):c.421del (p.(Gln141ArgfsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032089" "0" "50" "1" "45796852" "45796852" "subst" "0.000121821" "02329" "MUTYH_000281" "g.45796852G>A" "" "" "" "MUTYH(NM_001128425.2):c.1476+2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032090" "0" "50" "1" "45796963" "45796963" "subst" "0" "01804" "HPDL_000053" "g.45796963T>A" "" "" "" "MUTYH(NM_001048174.2):c.1283A>T (p.(Tyr428Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032091" "0" "50" "1" "45797216" "45797216" "subst" "0" "02327" "MUTYH_000226" "g.45797216C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032092" "0" "70" "1" "45797534" "45797534" "subst" "0" "02327" "MUTYH_000101" "g.45797534A>C" "" "" "" "MUTYH(NM_001128425.1):c.998-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032093" "0" "30" "1" "45798781" "45798781" "subst" "7.71567E-5" "02329" "MUTYH_000260" "g.45798781G>A" "" "" "" "MUTYH(NM_001128425.1):c.450C>T (p.T150=), MUTYH(NM_001128425.2):c.450C>T (p.T150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032094" "0" "30" "1" "45800146" "45800146" "subst" "0.00103547" "01804" "MUTYH_000026" "g.45800146C>T" "" "" "" "MUTYH(NM_001048174.2):c.32G>A (p.(Gly11Asp)), MUTYH(NM_001128425.1):c.74G>A (p.G25D), MUTYH(NM_001128425.2):c.74G>A (p.G25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032095" "0" "10" "1" "45800167" "45800167" "subst" "0.00103553" "01804" "MUTYH_000024" "g.45800167G>A" "" "" "" "MUTYH(NM_001048174.2):c.11C>T (p.(Pro4Leu)), MUTYH(NM_001128425.1):c.53C>T (p.P18L), MUTYH(NM_001128425.2):c.53C>T (p.P18L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032096" "0" "30" "1" "45808515" "45808515" "subst" "0" "01804" "TESK2_000021" "g.45808515T>C" "" "" "" "TOE1(NM_025077.4):c.753T>C (p.(Cys251=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045689" "0" "90" "1" "45799108" "45799108" "subst" "3.65473E-5" "02326" "MUTYH_000008" "g.45799108G>A" "" "" "" "MUTYH(NM_001128425.1):c.325C>T (p.R109W), MUTYH(NM_001128425.2):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MUTYH ## Count = 3750 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000021309" "00023838" "70" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "-" "" "0000021310" "00023838" "70" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385fs)" "-" "" "0000021754" "00023838" "50" "1187" "0" "1187" "0" "c.1187G>A" "r.(spl?)" "p.(Gly396Asp)" "13" "" "0000063490" "00023838" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000063491" "00023838" "90" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97Gln)" "" "" "0000063492" "00023838" "50" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "" "" "0000063493" "00023838" "90" "1134" "0" "1134" "0" "c.1134del" "r.(?)" "p.(Glu378Aspfs*30)" "" "" "0000063494" "00023838" "10" "1477" "-28" "1477" "-28" "c.1477-28G>A" "r.(=)" "p.(=)" "" "" "0000063495" "00023838" "10" "1431" "0" "1431" "0" "c.1431G>C" "r.(=)" "p.(=)" "" "" "0000063496" "00023838" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247*)" "" "" "0000076770" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "7" "" "0000076771" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "13" "" "0000172802" "00023838" "50" "1588" "0" "1588" "0" "c.1588G>T" "r.(1588g>u)" "p.(Asp530Tyr)" "16" "" "0000223772" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Pro295Leu)" "" "" "0000223773" "00023838" "90" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Gln416*)" "" "" "0000223774" "00023838" "90" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "" "0000223775" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.spl?" "p.(?)" "12i" "" "0000223776" "00023838" "90" "733" "0" "733" "0" "c.733C>A" "r.(?)" "p.(Arg245Ser)" "9" "" "0000223777" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000255175" "00023838" "30" "1491" "0" "1491" "0" "c.1491T>C" "r.(?)" "p.(Tyr497=)" "" "" "0000255672" "00023838" "90" "998" "-13" "998" "-13" "c.998-13T>G" "r.(=)" "p.(=)" "" "" "0000280180" "00023838" "10" "1014" "0" "1014" "0" "c.1014G>C" "r.(?)" "p.(Gln338His)" "" "" "0000280181" "00023838" "70" "1038" "0" "1038" "0" "c.1038G>A" "r.(?)" "p.(Ser346=)" "" "" "0000280182" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000280184" "00023838" "30" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "" "" "0000280185" "00023838" "30" "1431" "0" "1431" "0" "c.1431G>C" "r.(?)" "p.(Thr477=)" "" "" "0000280186" "00023838" "30" "1537" "0" "1537" "0" "c.1537G>T" "r.(?)" "p.(Val513Leu)" "" "" "0000280187" "00023838" "10" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ser515Phe)" "" "" "0000280188" "00023838" "30" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Tyr104=)" "" "" "0000280189" "00023838" "50" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Asp105Asn)" "" "" "0000280190" "00023838" "10" "348" "11" "348" "11" "c.348+11G>A" "r.(=)" "p.(=)" "" "" "0000280191" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000280192" "00023838" "30" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Pro18Leu)" "" "" "0000280193" "00023838" "30" "690" "14" "690" "14" "c.690+14C>G" "r.(=)" "p.(=)" "" "" "0000280194" "00023838" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Ter)" "" "" "0000280195" "00023838" "30" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Asp)" "" "" "0000280196" "00023838" "30" "766" "0" "766" "0" "c.766A>G" "r.(?)" "p.(Thr256Ala)" "" "" "0000280197" "00023838" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294His)" "" "" "0000280198" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Pro295Leu)" "" "" "0000282699" "00023838" "10" "1014" "0" "1014" "0" "c.1014G>C" "r.(?)" "p.(Gln338His)" "" "" "0000282700" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385ProfsTer23)" "" "" "0000282701" "00023838" "30" "1186" "9" "1186" "9" "c.1186+9A>T" "r.(=)" "p.(=)" "" "" "0000282702" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000282703" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "" "0000282704" "00023838" "30" "1250" "0" "1250" "0" "c.1250G>A" "r.(?)" "p.(Arg417His)" "" "" "0000282705" "00023838" "10" "1447" "0" "1447" "0" "c.1447A>C" "r.(?)" "p.(Thr483Pro)" "" "" "0000282706" "00023838" "10" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ser515Phe)" "" "" "0000282707" "00023838" "30" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Tyr104=)" "" "" "0000282708" "00023838" "10" "36" "325" "36" "325" "c.36+325C>G" "r.(=)" "p.(=)" "" "" "0000282709" "00023838" "50" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "" "0000282710" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000282711" "00023838" "50" "64" "0" "64" "0" "c.64G>T" "r.(?)" "p.(Val22Leu)" "" "" "0000282712" "00023838" "30" "690" "14" "690" "14" "c.690+14C>G" "r.(=)" "p.(=)" "" "" "0000283753" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000283754" "00023838" "30" "1393" "0" "1393" "0" "c.1393C>G" "r.(?)" "p.(Pro465Ala)" "" "" "0000283755" "00023838" "10" "1431" "0" "1431" "0" "c.1431G>C" "r.(?)" "p.(Thr477=)" "" "" "0000283756" "00023838" "10" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ser515Phe)" "" "" "0000283757" "00023838" "30" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Trp)" "" "" "0000283758" "00023838" "30" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Tyr104=)" "" "" "0000283759" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000283760" "00023838" "30" "690" "14" "690" "14" "c.690+14C>G" "r.(=)" "p.(=)" "" "" "0000283761" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Pro295Leu)" "" "" "0000286716" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000292215" "00023838" "30" "1000" "0" "1000" "0" "c.1000C>G" "r.(?)" "p.(Pro334Ala)" "" "" "0000292216" "00023838" "10" "1014" "0" "1014" "0" "c.1014G>C" "r.(?)" "p.(Gln338His)" "" "" "0000292217" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385ProfsTer23)" "" "" "0000292218" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000292219" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "" "0000292221" "00023838" "50" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Gln414Arg)" "" "" "0000292222" "00023838" "10" "1431" "0" "1431" "0" "c.1431G>C" "r.(?)" "p.(Thr477=)" "" "" "0000292223" "00023838" "10" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ser515Phe)" "" "" "0000292224" "00023838" "10" "157" "30" "157" "30" "c.157+30A>G" "r.(=)" "p.(=)" "" "" "0000292225" "00023838" "30" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Gly56Val)" "" "" "0000292226" "00023838" "30" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Tyr104=)" "" "" "0000292227" "00023838" "10" "505" "-4" "505" "-4" "c.505-4A>G" "r.spl?" "p.?" "" "" "0000292228" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000292229" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(?)" "p.(Ile223Val)" "" "" "0000292230" "00023838" "10" "690" "21" "690" "21" "c.690+21C>A" "r.(=)" "p.(=)" "" "" "0000292231" "00023838" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Ter)" "" "" "0000292232" "00023838" "90" "91" "0" "91" "0" "c.91del" "r.(?)" "p.(Ala31ProfsTer27)" "" "" "0000292233" "00023838" "50" "998" "-27" "998" "-27" "c.998-27G>A" "r.(=)" "p.(=)" "" "" "0000309372" "00023838" "10" "36" "11" "36" "11" "c.36+11C>T" "r.(=)" "p.(=)" "" "" "0000320790" "00023838" "10" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ser515Phe)" "" "" "0000320791" "00023838" "50" "736" "0" "736" "0" "c.736G>T" "r.(?)" "p.(Val246Phe)" "" "" "0000320794" "00023838" "10" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Val22Met)" "" "" "0000336858" "00023838" "10" "36" "11" "36" "11" "c.36+11C>T" "r.(=)" "p.(=)" "" "" "0000338128" "00023838" "10" "1187" "-27" "1187" "-27" "c.1187-27C>T" "r.(=)" "p.(=)" "" "" "0000338129" "00023838" "30" "998" "-27" "998" "-27" "c.998-27G>A" "r.(=)" "p.(=)" "" "" "0000338130" "00023838" "30" "690" "14" "690" "14" "c.690+14C>G" "r.(=)" "p.(=)" "" "" "0000338131" "00023838" "10" "504" "35" "504" "35" "c.504+35A>G" "r.(=)" "p.(=)" "" "" "0000338132" "00023838" "10" "157" "30" "157" "30" "c.157+30A>G" "r.(=)" "p.(=)" "" "" "0000338133" "00023838" "10" "-127" "0" "-127" "0" "c.-127C>T" "r.(?)" "p.(=)" "" "" "0000338134" "00023838" "30" "-177" "0" "-177" "0" "c.-177T>C" "r.(?)" "p.(=)" "" "" "0000340114" "00023838" "30" "1431" "0" "1431" "0" "c.1431G>C" "r.(?)" "p.(Thr477=)" "" "" "0000340115" "00023838" "30" "747" "0" "747" "0" "c.747T>C" "r.(?)" "p.(Ile249=)" "" "" "0000340116" "00023838" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Thr232=)" "" "" "0000340117" "00023838" "30" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Tyr104=)" "" "" "0000340775" "00023838" "30" "453" "0" "453" "0" "c.453A>G" "r.(?)" "p.(Gly151=)" "" "" "0000341281" "00023838" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Ala227Thr)" "" "" "0000341282" "00023838" "50" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "" "0000341712" "00023838" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "" "0000342380" "00023838" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241Gln)" "" "" "0000342600" "00023838" "30" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000342879" "00023838" "50" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "" "" "0000343057" "00023838" "30" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523Cys)" "" "" "0000343516" "00023838" "50" "-1266" "0" "-1266" "0" "c.-1266C>T" "r.(?)" "p.(=)" "" "" "0000343945" "00023838" "70" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "" "0000344774" "00023838" "10" "1014" "0" "1014" "0" "c.1014G>C" "r.(?)" "p.(Gln338His)" "" "" "0000344811" "00023838" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Gln391Ter)" "" "" "0000345452" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(?)" "p.(Glu480del)" "" "" "0000346052" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000348433" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "" "0000348923" "00023838" "50" "-2747" "0" "-2747" "0" "c.-2747G>A" "r.(?)" "p.(=)" "" "" "0000349069" "00023838" "30" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ser515Phe)" "" "" "0000349958" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000350410" "00023838" "10" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Val22Met)" "" "" "0000351212" "00023838" "10" "1477" "-40" "1477" "-40" "c.1477-40C>G" "r.(=)" "p.(=)" "" "" "0000351213" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.spl?" "p.?" "" "" "0000359376" "00023838" "50" "-127" "0" "-127" "0" "c.-127C>T" "r.(?)" "p.(=)" "1" "" "0000359377" "00023838" "90" "1145" "0" "1145" "0" "c.1145C>A" "r.(?)" "p.(Ala382Asp)" "13" "" "0000359379" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359380" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359381" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359382" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359383" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359384" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359385" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359386" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359387" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359388" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359389" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359390" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359391" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359392" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359393" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359394" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359395" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359396" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359397" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359398" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359399" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359400" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359401" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359402" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359403" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359404" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359405" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359406" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359407" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359408" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359409" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359410" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359411" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359412" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359413" "00023838" "50" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "14i" "" "0000359414" "00023838" "30" "1530" "0" "1530" "0" "c.1530G>A" "r.(?)" "p.(Arg510=)" "16" "" "0000359415" "00023838" "10" "157" "30" "157" "30" "c.157+30A>G" "r.(?)" "p.(=)" "2i" "" "0000359417" "00023838" "50" "312" "0" "312" "0" "c.312C>T" "r.(=)" "p.(Tyr104=)" "3" "" "0000359418" "00023838" "50" "37" "75" "37" "75" "c.37+75C>G" "r.(?)" "p.(=)" "1i" "" "0000359419" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359420" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359421" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359422" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359423" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359424" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359425" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359426" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359427" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359428" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359429" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359430" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359431" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359432" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359433" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359434" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359435" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359436" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359437" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359438" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359439" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359440" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359441" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359442" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359443" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359444" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359445" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359446" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359447" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359448" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359449" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359450" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359451" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359452" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359453" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359454" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "6i" "" "0000359455" "00023838" "50" "892" "-11" "892" "-11" "c.892-11G>C" "r.(?)" "p.(=)" "10i" "" "0000359456" "00023838" "10" "972" "0" "972" "0" "c.972G>C" "r.(?)" "p.(Ser324=)" "12" "" "0000359457" "00023838" "10" "972" "0" "972" "0" "c.972G>C" "r.(?)" "p.(Ser324=)" "12" "" "0000359458" "00023838" "10" "972" "0" "972" "0" "c.972G>C" "r.(?)" "p.(Ser324=)" "12" "" "0000359459" "00023838" "10" "972" "0" "972" "0" "c.972G>C" "r.(?)" 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"1i" "" "0000367865" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000367866" "00023838" "50" "157" "30" "157" "30" "c.157+30A>G" "r.(=)" "p.(=)" "2i" "" "0000367867" "00023838" "50" "313" "0" "313" "0" "c.313G>A" "r.(313g>a)" "p.(Asp105Asn)" "3" "" "0000367868" "00023838" "70" "325" "0" "325" "0" "c.325C>T" "r.(325c>u)" "p.(Arg109Trp)" "3" "" "0000367869" "00023838" "50" "388" "56" "388" "56" "c.388+56G>A" "r.(=)" "p.(=)" "4i" "" "0000367870" "00023838" "50" "504" "35" "504" "35" "c.504+35G>A" "r.(=)" "p.(=)" "6i" "" "0000367871" "00023838" "50" "-56" "0" "-56" "0" "c.-56G>C" "r.(=)" "p.(=)" "_1" "" "0000367872" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000367873" "00023838" "50" "690" "14" "690" "14" "c.690+14C>G" "r.(=)" "p.(=)" "8i" "" "0000367874" "00023838" "50" "691" "-1" "691" "-1" "c.691-1G>A" "r.(691_788del)" "p.(Ala231GlyfsX65)" "8i" "" "0000367875" "00023838" "50" "690" "21" "690" "21" "c.690+21C>T" "r.(=)" "p.(=)" "8i" "" "0000367876" "00023838" "70" "739" "0" "739" "0" "c.739C>T" "r.(739c>u)" "p.(Arg247X)" "9" "" "0000367877" "00023838" "50" "847" "0" "847" "0" "c.847A>G" "r.(847a>g)" "p.(Met283Val)" "10" "" "0000367878" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000367879" "00023838" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.Arg309Cys" "10" "" "0000367880" "00023838" "50" "36" "75" "36" "75" "c.36+75C>G" "r.(=)" "p.(=)" "1i" "" "0000367881" "00023838" "70" "1187" "-2" "1187" "-2" "c.1187-2A>G" "r.[(1187_1323del), (0)]" "p.[(Leu397CysfsX89, (0)]" "12i" "" "0000367882" "00023838" "50" "39" "0" "39" "0" "c.39C>T" "r.(39c>u)" "p.(Ala13Ala)" "2" "" "0000367883" "00023838" "50" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.Pro18Leu" "2" "" "0000367884" "00023838" "50" "311" "0" "311" "0" "c.311A>G" "r.(311a>g)" "p.(Tyr104Cys)" "3" "" "0000367885" "00023838" "50" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.Gly25Asp" "2" "" "0000367886" "00023838" "90" "241" "0" "242" "0" "c.241_242del" "r.(241_242del)" "p.(Val81LeufsX11)" "3" "" "0000367887" "00023838" "50" "224" "0" "224" "0" "c.224T>A" "r.(224u>a)" "p.(Val75Glu)" "3" "" "0000367888" "00023838" "70" "289" "0" "289" "0" "c.289C>T" "r.(289c>u)" "p.(Arg97X)" "3" "" "0000367889" "00023838" "70" "294" "0" "294" "0" "c.294del" "r.(294del)" "p.(Ser99AlafsX3)" "3" "" "0000367890" "00023838" "50" "312" "0" "312" "0" "c.312C>T" "r.(312c>u)" "p.(Tyr104Tyr)" "3" "" "0000367891" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(?)" "p.Tyr104*" "3" "" "0000367892" "00023838" "50" "382" "0" "382" "0" "c.382T>C" "r.(382u>c)" "p.(Tyr128His)" "4" "" "0000367893" "00023838" "50" "391" "0" "391" "0" "c.391T>A" "r.(391u>a)" "p.(Trp131Arg)" "5" "" "0000367894" "00023838" "50" "550" "0" "550" "0" "c.550C>T" "r.(550c>u)" "p.(Arg184Trp)" "7" "" "0000367895" "00023838" "50" "804" "0" "804" "0" "c.804G>A" "r.(804g>a)" "p.(Gln268Gln)" "10" "" "0000367896" "00023838" "70" "453" "0" "458" "0" "c.453_458dup" "r.(453_458dup)" "p.(Trp152_Met153insIleTrp)" "5" "" "0000367897" "00023838" "50" "470" "0" "470" "0" "c.470C>T" "r.(470c>u)" "p.(Pro157Leu)" "6i" "" "0000367898" "00023838" "50" "-216" "-3949" "-216" "-3949" "c.-216-3949T>C" "r.(=)" "p.(=)" "_1" "" "0000367899" "00023838" "50" "544" "0" "544" "0" "c.544C>T" "r.(544c>u)" "p.(Arg182Cys)" "7" "" "0000367900" "00023838" "50" "545" "0" "545" "0" "c.545G>A" "r.(545g>a)" "p.(Arg182His)" "7" "" "0000367901" "00023838" "90" "566" "0" "566" "0" "c.566G>A" "r.(566g>a)" "p.(Gly189Glu)" "7" "" "0000367902" "00023838" "90" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.Asp236Asn" "9" "" "0000367903" "00023838" "50" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.Gln338Arg" "12" "" "0000367904" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(667a>g)" "p.(Ile223Val)" "8" "" "0000367905" "00023838" "50" "676" "0" "676" "0" "c.676A>G" "r.(676a>g)" "p.(Ile226Val)" "8" "" "0000367906" "00023838" "50" "700" "0" "700" "0" "c.700G>A" "r.(700g>a)" "p.(Val234Met)" "9" "" "0000367907" "00023838" "50" "714" "0" "714" "0" "c.714C>T" "r.(714c>u)" "p.(Asn238Asn)" "9" "" "0000367908" "00023838" "50" "571" "0" "571" "0" "c.571C>T" "r.(571c>u)" "p.(Arg191Trp)" "7" "" "0000367909" "00023838" "90" "721" "0" "721" "0" "c.721C>T" "r.(721c>u)" "p.(Arg241Trp)" "9" "" "0000367910" "00023838" "70" "734" "0" "734" "0" "c.734G>A" "r.(734g>a)" "p.(Arg245His)" "9" "" "0000367911" "00023838" "70" "734" "0" "734" "0" "c.734G>T" "r.(734g>u)" "p.(Arg245Leu)" "9" "" "0000367912" "00023838" "90" "736" "0" "736" "0" "c.736G>T" "r.(736g>u)" "p.(Val246Phe)" "9" "" "0000367913" "00023838" "50" "820" "0" "820" "0" "c.820C>T" "r.(820c>u)" "p.(Arg274Trp)" "10" "" "0000367914" "00023838" "50" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.Arg274Gln" "10" "" "0000367915" "00023838" "90" "824" "0" "829" "0" "c.824_829dup" "r.(824_829dup)" "p.(Gly276_Asp277insAlaGly)" "10" "" "0000367916" "00023838" "70" "1438" "0" "1440" "0" "c.1438_1440del" "r.(1438_1440del)" "p.(Glu480del)" "14" "" "0000367917" "00023838" "50" "869" "0" "869" "0" "c.869G>A" "r.(869g>a)" "p.(Cys290Trp)" "10" "" "0000367918" "00023838" "50" "1465" "0" "1465" "0" "c.1465G>A" "r.(1465g>a)" "p.(Ala489Thr)" "14" "" "0000367919" "00023838" "50" "309" "0" "309" "0" "c.309G>A" "r.(309g>a)" "p.(Trp103X)" "3" "" "0000367920" "00023838" "70" "421" "0" "421" "0" "c.421del" "r.(421del)" "p.(Gln141ArgfsX5)" "5" "" "0000367921" "00023838" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(1012c>u)" "p.(Gln338X)" "12" "" "0000367922" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000367923" "00023838" "70" "1038" "0" "1038" "0" "c.1038G>A" "r.spl" "p.(Ser346=)" "12" "" "0000367924" "00023838" "70" "1101" "0" "1101" "0" "c.1101dup" "r.(1101dup)" "p.(Arg368GlnfsX164)" "12" "" "0000367925" "00023838" "50" "539" "0" "539" "0" "c.539A>C" "r.(539a>c)" "p.(Tyr180Ser)" "7" "" "0000367926" "00023838" "70" "1246" "0" "1246" "0" "c.1246C>T" "r.(1246c>u)" "p.(Gln416X)" "13" "" "0000367927" "00023838" "50" "1138" "0" "1138" "0" "c.1138C>A" "r.(1138c>a)" "p.(Pro380Thr)" "12" "" "0000367928" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000367929" "00023838" "50" "690" "21" "690" "21" "c.690+21C>A" "r.(=)" "p.(=)" "8i" "" "0000367930" "00023838" "70" "1163" "0" "1163" "0" "c.1163T>C" "r.(1163u>c)" "p.(Leu388Pro)" "12" "" "0000367931" "00023838" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(1171c>u)" "p.(Gln391X)" "12" "" "0000367932" "00023838" "70" "1179" "0" "1179" "0" "c.1179del" "r.(1179del)" "p.(Asn394ThrfsX14)" "12" "" "0000367933" "00023838" "50" "1186" "48" "1186" "48" "c.1186+48G>T" "r.(=)" "p.(=)" "12i" "" "0000367934" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000367935" "00023838" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(1213c>u)" "p.(Pro405Ser)" "13" "" "0000367936" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000367937" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000367938" "00023838" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(1241a>g)" "p.(Gln414Arg)" "13" "" "0000367939" "00023838" "50" "1477" "-28" "1477" "-28" "c.1477-28G>A" "r.(=)" "p.(=)" "14i" "" "0000367940" "00023838" "50" "1276" "0" "1276" "0" "c.1276C>T" "r.(1276c>u)" "p.(Arg426Cys)" "13" "" "0000367941" "00023838" "50" "1324" "-34" "1324" "-34" "c.1324-34C>T" "r.(=)" "p.(=)" "13i" "" "0000367942" "00023838" "50" "-165" "0" "-165" "0" "c.-165C>T" "r.(=)" "p.(=)" "_1" "" "0000367943" "00023838" "50" "1417" "0" "1417" "0" "c.1417G>A" "r.(1417g>a)" "p.(Ala473Thr)" "14" "" "0000367944" "00023838" "50" "1431" "0" "1431" "0" "c.1431G>C" "r.(1431g>c)" "p.(Thr477Thr)" "14" "" "0000367945" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000367946" "00023838" "50" "37" "-19" "37" "-19" "c.37-19C>G" "r.(=)" "p.(=)" "1i" "" "0000367947" "00023838" "90" "1438" "0" "1438" "0" "c.1438G>T" "r.(?)" "p.Glu480*" "14" "" "0000367948" "00023838" "90" "1437" "0" "1440" "0" "c.1437_1440del" "r.(1437_1440del)" "p.(Glu479AspfsX11)" "14" "" "0000367949" "00023838" "70" "1461" "0" "1461" "0" "c.1461del" "r.(1461del)" "p.(Thr488ProfsX3)" "14" "" "0000367950" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.[=, 463_504del]" "p.([=, Lys155_Glu168del])" "6i" "" "0000367951" "00023838" "90" "522" "0" "522" "0" "c.522G>A" "r.(522g>a)" "p.(Trp174X)" "7" "" "0000367952" "00023838" "90" "1230" "0" "1231" "0" "c.1230_1231dup" "r.(1230_1231dup)" "p.(Pro411ArgfsX42)" "13" "" "0000367953" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000367954" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000367955" "00023838" "50" "1547" "0" "1547" "0" "c.1547C>T" "r.(1547c>u)" "p.(Pro516Leu)" "16" "" "0000367956" "00023838" "50" "1601" "0" "1601" "0" "c.1601G>A" "r.(1601g>a)" "p.(Arg534Gln)" "16" "" "0000367957" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000367958" "00023838" "90" "934" "-2" "934" "-2" "c.934-2A>G" "r.[933_934ins933+1_934-1;934-2a>g]" "p.(Glu313SerfsX8)" "10i" "" "0000367959" "00023838" "50" "934" "-29" "934" "-29" "c.934-29C>T" "r.(=)" "p.(=)" "10i" "" "0000367960" "00023838" "50" "998" "-9" "998" "-9" "c.998-9C>T" "r.(=)" "p.(=)" "11i" "" "0000367961" "00023838" "70" "998" "-13" "998" "-13" "c.998-13T>G" "r.[997_998ins998-23_998-1; 998-13t>g]" "p.(Ala333GlyfsX83)" "11i" "" "0000367962" "00023838" "50" "551" "0" "551" "0" "c.551G>A" "r.(551g>a)" "p.(Arg184Gln)" "7" "" "0000367963" "00023838" "50" "1187" "-27" "1187" "-27" "c.1187-27C>T" "r.(=)" "p.(=)" "12i" "" "0000367964" "00023838" "50" "1518" "119" "1518" "119" "c.1518+119G>A" "r.(=)" "p.(=)" "15i" "" "0000367965" "00023838" "50" "1477" "-40" "1477" "-40" "c.1477-40G>C" "r.(=)" "p.(=)" "14i" "" "0000367966" "00023838" "50" "1518" "73" "1518" "73" "c.1518+73C>T" "r.(=)" "p.(=)" "15i" "" "0000367967" "00023838" "50" "348" "11" "348" "11" "c.348+11G>A" "r.(=)" "p.(=)" "03i" "" "0000367968" "00023838" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.Ala373Val" "12" "" "0000367969" "00023838" "90" "389" "-1" "389" "-1" "c.389-1G>A" "r.(389_462del); r.(spl?" "p.(Val130GlufsX98)" "4i" "" "0000367970" "00023838" "50" "691" "-25" "691" "-25" "c.691-25T>A" "r.(=)" "p.(=)" "8i" "" "0000367971" "00023838" "50" "691" "-28" "691" "-28" "c.691-28G>A" "r.(=)" "p.(=)" "8i" "" "0000367972" "00023838" "70" "91" "0" "91" "0" "c.91del" "r.(91del)" "p.(Ala31ProfsX27)" "2" "" "0000367973" "00023838" "50" "1494" "0" "1494" "0" "c.1494G>C" "r.(1494g>c)" "p.(Gln498His)" "15" "" "0000367974" "00023838" "50" "1323" "25" "1324" "-31" "c.1323+25_1324-31del" "r.(=); r.(spl?)" "p.(=)" "13i" "" "0000367975" "00023838" "90" "940" "0" "940" "0" "c.940C>T" "r.(940c>u)" "p.(Gln314X)" "11" "" "0000367976" "00023838" "70" "586" "0" "586" "0" "c.586G>T" "r.(586g>u)" "p.(Glu196X)" "8" "" "0000367977" "00023838" "50" "998" "-2" "998" "-2" "c.998-2A>G" "r.(998_1186del)" "p.(Ala333_Ser395del)" "11i" "" "0000367978" "00023838" "50" "1418" "0" "1418" "0" "c.1418C>A" "r.(1418c>a)" "p.(Ala473Asp)" "14" "" "0000367979" "00023838" "50" "366" "0" "366" "0" "c.366C>T" "r.(366c>u)" "p.(Asp122Asp)" "4" "" "0000367980" "00023838" "50" "376" "0" "376" "0" "c.376C>T" "r.(376c>u)" "p.(Arg126Trp)" "4" "" "0000367981" "00023838" "50" "388" "55" "388" "55" "c.388+55G>A" "r.(=)" "p.(=)" "4i" "" "0000367982" "00023838" "70" "389" "-1" "389" "-1" "c.389-1G>C" "r.(389_462del)" "p.(Val130GlufsX98)" "4i" "" "0000367983" "00023838" "50" "463" "-39" "463" "-39" "c.463-39C>T" "r.(=)" "p.(=)" "5i" "" "0000367984" "00023838" "50" "607" "0" "607" "0" "c.607C>T" "r.(607c>u)" "p.(Arg203Cys)" "8" "" "0000367985" "00023838" "50" "650" "0" "650" "0" "c.650G>A" "r.(650g>a)" "p.(Arg217His)" "8" "" "0000367986" "00023838" "50" "691" "-5" "691" "-5" "c.691-5G>T" "r.(=)" "p.(=)" "8i" "" "0000367987" "00023838" "90" "733" "0" "733" "0" "c.733C>T" "r.(733c>u)" "p.(Arg245Cys)" "9" "" "0000367988" "00023838" "50" "836" "0" "836" "0" "c.836A>G" "r.(836a>g)" "p.(Asn279Ser)" "10" "" "0000367989" "00023838" "90" "864" "0" "865" "0" "c.864_865del" "r.(864_865del)" "p.(Cys290TyrfsX38)" "10" "" "0000367990" "00023838" "50" "994" "0" "994" "0" "c.994T>C" "r.(994u>c)" "p.(Cys332Arg)" "11" "" "0000367991" "00023838" "50" "997" "7" "997" "7" "c.997+7A>G" "r.(=)" "p.(=)" "11i" "" "0000367992" "00023838" "50" "998" "-27" "998" "-27" "c.998-27G>A" "r.(spl?); r.(=)" "p.(spl?); p.(=)" "11i" "" "0000367993" "00023838" "90" "998" "-1" "998" "-1" "c.998-1G>T" "r.(998_1186del)" "p.(Ala333_Ser395del)" "11i" "" "0000367994" "00023838" "50" "1076" "0" "1076" "0" "c.1076C>T" "r.(1076c>u)" "p.(Pro359Leu)" "12" "" "0000367995" "00023838" "50" "1077" "0" "1077" "0" "c.1077C>T" "r.(1077c>u)" "p.(Pro359Pro)" "12" "" "0000367996" "00023838" "50" "1258" "0" "1258" "0" "c.1258C>A" "r.(1258c>a)" "p.(Leu420Met)" "13" "" "0000367997" "00023838" "90" "1435" "0" "1435" "0" "c.1435G>T" "r.(1435g>u)" "p.(Glu479X)" "14" "" "0000367998" "00023838" "70" "1477" "0" "1477" "0" "c.1477G>T" "r.(1477g>u); r.(spl?)" "p.(Val493Phe)" "15" "" "0000367999" "00023838" "50" "1548" "0" "1548" "0" "c.1548G>A" "r.(1548g>a)" "p.(Pro516Pro)" "16" "" "0000368000" "00023838" "50" "1609" "0" "1609" "0" "c.1609A>G" "r.(1609a>g)" "p.(Ile537Val)" "16" "" "0000368001" "00023838" "50" "62" "0" "62" "0" "c.62C>T" "r.(62c>u)" "p.(Ala21Val)" "2" "" "0000368002" "00023838" "50" "463" "-47" "463" "-47" "c.463-47C>T" "r.(=)" "p.(=)" "5i" "" "0000368003" "00023838" "50" "1477" "-17" "1477" "-17" "c.1477-17G>T" "r.(=)" "p.(=)" "14i" "" "0000368004" "00023838" "50" "1519" "-83" "1519" "-83" "c.1519-83G>C" "r.(=)" "p.(=)" "15i" "" "0000368005" "00023838" "50" "1310" "0" "1310" "0" "c.1310G>A" "r.(1310g>a)" "p.(Arg437Gln)" "13" "" "0000368006" "00023838" "50" "1310" "0" "1310" "0" "c.1310G>C" "r.(1310g>c)" "p.(Arg437Pro)" "13" "" "0000368007" "00023838" "50" "1311" "0" "1311" "0" "c.1311G>A" "r.(1311g>a)" "p.(Arg437Arg)" "13" "" "0000368008" "00023838" "50" "56" "0" "56" "0" "c.56G>A" "r.(56g>a)" "p.(Arg19Gln)" "2" "" "0000368009" "00023838" "50" "157" "75" "157" "75" "c.157+75G>A" "r.(=)" "p.(=)" "2i" "" "0000368010" "00023838" "50" "157" "151" "157" "151" "c.157+151G>A" "r.(=)" "p.(=)" "2i" "" "0000368011" "00023838" "50" "157" "136" "157" "136" "c.157+136G>A" "r.(=)" "p.(=)" "2i" "" "0000368012" "00023838" "50" "1477" "-125" "1477" "-125" "c.1477-125C>A" "r.(=)" "p.(=)" "14i" "" "0000368013" "00023838" "50" "1476" "228" "1476" "228" "c.1476+228C>T" "r.(=)" "p.(=)" "14i" "" "0000368014" "00023838" "50" "1518" "479" "1518" "480" "c.1518+479_1518+480ins327" "r.(=)" "p.(=)" "15i" "" "0000368015" "00023838" "50" "1153" "0" "1153" "0" "c.1153G>A" "r.(1153g>a)" "p.(Ala385Thr)" "12" "" "0000368016" "00023838" "50" "1186" "46" "1186" "46" "c.1186+46G>A" "r.(=)" "p.(=)" "12i" "" "0000368017" "00023838" "50" "551" "0" "551" "0" "c.551G>C" "r.(551g>u)" "p.(Arg184Pro)" "7" "" "0000368018" "00023838" "50" "-216" "-64" "-216" "-64" "c.-216-64G>A" "r.(=)" "p.(=)" "_1" "" "0000368019" "00023838" "50" "36" "1841" "36" "1841" "c.36+1841G>A" "r.(=)" "p.(=)" "1i" "" "0000368020" "00023838" "50" "37" "-1960" "37" "-1960" "c.37-1960G>C" "r.(=)" "p.(=)" "1i" "" "0000368021" "00023838" "50" "722" "0" "722" "0" "c.722G>A" "r.(722g>a)" "p.(Arg241Gln)" "9" "" "0000368022" "00023838" "50" "572" "0" "572" "0" "c.572G>A" "r.(572g>a)" "p.(Arg191Gln)" "7" "" "0000368023" "00023838" "50" "951" "0" "951" "0" "c.951C>G" "r.(951c>g)" "p.(Leu317Leu)" "11" "" "0000368024" "00023838" "90" "1041" "0" "1042" "0" "c.1041_1042del" "r.(1041_1042del)" "p.(Glu347AspfsX184)" "12" "" "0000368025" "00023838" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(1435g>a)" "p.(Glu479Lys)" "14" "" "0000368026" "00023838" "50" "1508" "0" "1508" "0" "c.1508G>A" "r.(1508g>a)" "p.(Gly503Glu)" "15" "" "0000368027" "00023838" "50" "1585" "0" "1585" "0" "c.1585C>A" "r.(1585c>a)" "p.(Leu529Met)" "16" "" "0000368028" "00023838" "50" "8" "0" "8" "0" "c.8C>T" "r.(=)" "p.(Pro3Leu)" "1" "" "0000368029" "00023838" "90" "49" "0" "49" "0" "c.49A>T" "r.(49a>u)" "p.(Lys17X)" "2" "" "0000368030" "00023838" "50" "307" "0" "307" "0" "c.307T>C" "r.(307u>c)" "p.(Trp103Arg)" "3" "" "0000368031" "00023838" "70" "554" "0" "554" "0" "c.554G>A" "r.(554g>a)" "p.(Arg185Gln)" "7" "" "0000368032" "00023838" "70" "647" "0" "647" "0" "c.647G>A" "r.(647g>a)" "p.(Gly216Glu)" "8" "" "0000368033" "00023838" "50" "680" "0" "680" "0" "c.680C>T" "r.(680c>u)" "p.(Ala227Val)" "8" "" "0000368034" "00023838" "50" "998" "-8" "998" "-8" "c.998-8G>A" "r.(=)" "p.(=)" "11i" "" "0000368035" "00023838" "50" "1477" "-18" "1477" "-18" "c.1477-18C>T" "r.(=)" "p.(=)" "14i" "" "0000368036" "00023838" "70" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.Arg185Trp" "7" "" "0000368037" "00023838" "90" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.Gly286Glu" "10" "" "0000368038" "00023838" "70" "799" "0" "799" "0" "c.799C>T" "r.(799c>u)" "p.(Gln267X)" "10" "" "0000368039" "00023838" "50" "1361" "0" "1361" "0" "c.1361A>C" "r.(1361a>c)" "p.(Gln454Pro)" "14" "" "0000368040" "00023838" "70" "690" "0" "690" "0" "c.690G>A" "r.577_690del" "p.(Val193_Gln230del)" "8" "" "0000368041" "00023838" "70" "713" "0" "713" "0" "c.713A>G" "r.(713a>g)" "p.(Asn238Ser)" "9" "" "0000368042" "00023838" "70" "1101" "0" "1101" "0" "c.1101del" "r.(1101del)" "p.(Arg368GlyfsX40)" "12" "" "0000368043" "00023838" "50" "1430" "0" "1430" "0" "c.1430C>T" "r.(1430c>u)" "p.(Thr477Met)" "14" "" "0000368044" "00023838" "90" "1518" "2" "1518" "2" "c.1518+2T>C" "r.(1477_1518del)" "p.(Val493_Met506del)" "15i" "" "0000368045" "00023838" "90" "1356" "0" "1356" "0" "c.1356del" "r.(1356del)" "p.(Tyr453IlefsX14)" "14" "" "0000368046" "00023838" "50" "36" "267" "36" "267" "c.36+267C>T" "r.(=)" "p.(=)" "1i" "" "0000368047" "00023838" "50" "749" "0" "749" "0" "c.749G>A" "r.(749g>a)" "p.(Gly250Asp)" "9" "" "0000368048" "00023838" "70" "628" "0" "628" "0" "c.628C>T" "r.(628c>u)" "p.(Gln210X)" "8" "" "0000368049" "00023838" "50" "463" "-1" "463" "-1" "c.463-1G>C" "r.(463_504del)" "p.(Lys155_Glu168del)" "5i" "" "0000368050" "00023838" "50" "643" "0" "643" "0" "c.643G>A" "r.(643g>a)" "p.(Val215Met)" "8" "" "0000368051" "00023838" "90" "55" "0" "55" "0" "c.55C>T" "r.(55c>u)" "p.(Arg19X)" "2" "" "0000368052" "00023838" "50" "1594" "0" "1594" "0" "c.1594T>G" "r.(?)" "p.Phe532Ala" "16" "" "0000368053" "00023838" "50" "1597" "0" "1597" "0" "c.1597T>G" "r.(?)" "p.Phe533Ala" "16" "" "0000368054" "00023838" "90" "1174" "0" "1176" "0" "c.1174_1176delinsGCT" "r.(?)" "p.Arg392Ala" "12" "" "0000368055" "00023838" "50" "536" "0" "537" "0" "c.536_537delinsTG" "r.(?)" "p.Tyr179Leu" "7" "" "0000368056" "00023838" "50" "536" "0" "537" "0" "c.536_537delinsTT" "r.(?)" "p.Tyr179Phe" "7" "" "0000368057" "00023838" "50" "1187" "0" "1188" "0" "c.1187_1188delinsCA" "r.(?)" "p.Gly396Ala" "13" "" "0000368058" "00023838" "90" "521" "0" "521" "0" "c.521G>A" "r.(521g>a)" "p.(Trp174X)" "7" "" "0000368059" "00023838" "50" "1141" "0" "1141" "0" "c.1141G>T" "r.(1141g>u)" "p.(Gly381Trp)" "12" "" "0000368060" "00023838" "50" "1477" "-27" "1477" "-27" "c.1477-27C>T" "r.(=)" "p.(=)" "14i" "" "0000368061" "00023838" "50" "1567" "0" "1567" "0" "c.1567C>T" "r.(1567c>u)" "p.(Arg523Cys)" "16" "" "0000368062" "00023838" "50" "1091" "0" "1091" "0" "c.1091G>A" "r.1091g>a" "p.Arg364His" "12" "" "0000368063" "00023838" "50" "991" "0" "991" "0" "c.991G>A" "r.991g>a" "p.Glu331Lys" "11" "" "0000368064" "00023838" "50" "1186" "42" "1186" "43" "c.1186+42_1186+43del" "r.=" "p.=" "12i" "" "0000368065" "00023838" "90" "1052" "0" "1054" "0" "c.1052_1054delinsGGAG" "r.(1052_1054delinsggag)" "p.(Gln351ArgfsX181)" "12" "" "0000368066" "00023838" "90" "462" "0" "462" "0" "c.462G>A" "r.389_462del" "p.(Val130GlufsX98)" "5" "" "0000368067" "00023838" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.1301c>u" "p.Thr434Met" "13" "" "0000368068" "00023838" "50" "36" "1" "36" "1" "c.36+1G>A" "r.spl" "p.0?" "1i" "" "0000368069" "00023838" "50" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "" "0000368070" "00023838" "70" "1199" "0" "1199" "0" "c.1199G>T" "r.(1199g>u)" "p.(Gly400Val)" "13" "" "0000368071" "00023838" "50" "-83" "0" "-83" "0" "c.-83G>A" "r.(=)" "p.(=)" "_1" "" "0000368072" "00023838" "50" "36" "54" "36" "54" "c.36+54G>A" "r.(=)" "p.(=)" "1i" "" "0000368073" "00023838" "50" "36" "478" "36" "478" "c.36+478C>G" "r.(=)" "p.(=)" "1i" "" "0000368074" "00023838" "50" "36" "721" "36" "721" "c.36+721C>T" "r.(=)" "p.(=)" "1i" "" "0000368075" "00023838" "50" "36" "830" "36" "830" "c.36+830G>A" "r.(=)" "p.(=)" "1i" "" "0000368076" "00023838" "50" "36" "845" "36" "845" "c.36+845G>C" "r.(=)" "p.(=)" "1i" "" "0000368077" "00023838" "50" "36" "847" "36" "847" "c.36+847T>C" "r.(=)" "p.(=)" "1i" "" "0000368078" "00023838" "50" "36" "852" "36" "852" "c.36+852A>G" "r.(=)" "p.(=)" "1i" "" "0000368079" "00023838" "50" "36" "1013" "36" "1013" "c.36+1013dup" "r.(=)" "p.(=)" "1i" "" "0000368080" "00023838" "50" "1186" "9" "1186" "9" "c.1186+9A>T" "r.(=)" "p.(=)" "12i" "" "0000368081" "00023838" "50" "690" "21" "690" "21" "c.690+21C>G" "r.(=)" "p.(=)" "8i" "" "0000368082" "00023838" "50" "379" "0" "379" "0" "c.379G>A" "r.(379g>a)" "p.(Ala127Thr)" "4" "" "0000368083" "00023838" "50" "753" "0" "753" "0" "c.753T>C" "r.(753t>c)" "p.(Ala251Ala)" "9" "" "0000368084" "00023838" "50" "505" "-4" "505" "-4" "c.505-4A>G" "r.(=)" "p.(=)" "6i" "" "0000368085" "00023838" "50" "739" "0" "739" "0" "c.739C>G" "r.(739c>g)" "p.(Arg247Gly)" "9" "" "0000368086" "00023838" "50" "-216" "-290" "-216" "-290" "c.-216-290G>A" "r.(=)" "p.(=)" "_1" "" "0000368087" "00023838" "50" "37" "-2487" "37" "-2487" "c.37-2487T>G" "r.(=)" "p.(=)" "1i" "" "0000368088" "00023838" "50" "972" "0" "972" "0" "c.972G>A" "r.(972g>a)" "p.(Ser324Ser)" "11" "" "0000368089" "00023838" "50" "1441" "0" "1441" "0" "c.1441T>A" "r.(1441u>a)" "p.(Phe481Ile)" "14" "" "0000368090" "00023838" "90" "1289" "0" "1303" "0" "c.1289_1303del" "r.(1289_1303del)" "p.(Pro430_Thr434del)" "13" "" "0000368091" "00023838" "50" "453" "0" "453" "0" "c.453A>C" "r.(453a>c)" "p.(Gly151Gly)" "5" "" "0000368092" "00023838" "50" "665" "0" "665" "0" "c.665C>T" "r.(665c>u)" "p.(Ala222Val)" "8" "" "0000368093" "00023838" "50" "20" "0" "20" "0" "c.20G>A" "r.(20g>a)" "p.(Arg7His)" "1" "" "0000368094" "00023838" "50" "1324" "-40" "1324" "-40" "c.1324-40T>C" "r.(=)" "p.(=)" "13i" "" "0000368095" "00023838" "50" "389" "-46" "389" "-46" "c.389-46G>A" "r.(=)" "p.(=)" "4i" "" "0000368096" "00023838" "50" "450" "0" "450" "0" "c.450C>T" "r.(450c>u)" "p.(Thr150Thr)" "5" "" "0000368097" "00023838" "50" "1449" "0" "1449" "0" "c.1449C>T" "r.(1449c>u)" "p.(Thr483Thr)" "14" "" "0000368098" "00023838" "50" "42" "0" "42" "0" "c.42C>T" "r.(42c>u)" "p.(Ile14Ile)" "2" "" "0000368099" "00023838" "70" "859" "0" "859" "0" "c.859del" "r.(859del)" "p.(Ala287ProfsX32)" "10" "" "0000368100" "00023838" "50" "98" "0" "98" "0" "c.98A>C" "r.(98a>c)" "p.(Gln33Pro)" "2" "" "0000368101" "00023838" "50" "158" "0" "158" "0" "c.158C>G" "r.(158c>g)" "p.(Ala53Gly)" "3" "" "0000368102" "00023838" "50" "290" "0" "290" "0" "c.290G>A" "r.(290g>a)" "p.(Arg97Gln)" "3" "" "0000368103" "00023838" "50" "388" "43" "388" "43" "c.388+43C>T" "r.(=)" "p.(=)" "4i" "" "0000368104" "00023838" "70" "412" "0" "412" "0" "c.412C>T" "r.(412c>u)" "p.(Gln138X)" "5" "" "0000368105" "00023838" "50" "886" "0" "886" "0" "c.886C>T" "r.(886c>u)" "p.(Leu296Leu)" "10" "" "0000368106" "00023838" "50" "998" "-48" "998" "-48" "c.998-48C>T" "r.(=)" "p.(=)" "11i" "" "0000368107" "00023838" "50" "998" "-24" "998" "-24" "c.998-24G>A" "r.(=)" "p.(=)" "11i" "" "0000368108" "00023838" "50" "1020" "0" "1020" "0" "c.1020C>G" "r.(1020c>g)" "p.(His340Gln)" "12" "" "0000368109" "00023838" "50" "1090" "0" "1090" "0" "c.1090C>T" "r.(1090c>u)" "p.(Arg364Cys)" "12" "" "0000368110" "00023838" "70" "1162" "0" "1163" "0" "c.1162_1163del" "r.(1162_1163del)" "p.(Leu388AlafsX143)" "12" "" "0000368111" "00023838" "50" "1173" "0" "1173" "0" "c.1173G>A" "r.(1173g>a)" "p.(Gln391Gln)" "12" "" "0000368112" "00023838" "70" "1240" "0" "1240" "0" "c.1240C>T" "r.(1240c>u)" "p.(Gln414X)" "13" "" "0000368113" "00023838" "50" "1420" "0" "1420" "0" "c.1420C>T" "r.(1420c>u)" "p.(Arg474Cys)" "14" "" "0000368114" "00023838" "50" "1518" "26" "1518" "26" "c.1518+26C>T" "r.(=); r.(spl?)" 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"2i" "" "0000368154" "00023838" "90" "348" "10" "348" "10" "c.348+10C>T" "r.348_349insGTAGGCAG" "p.Ala117ValfsX32" "3i" "" "0000368155" "00023838" "90" "348" "33" "1714" "146" "c.348+33_*64+146del4285insTA" "r.?" "p.?" "3i_16_" "" "0000368156" "00023838" "70" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.Ala266Gly" "10" "" "0000368157" "00023838" "50" "819" "0" "819" "0" "c.819C>G" "r.(?)" "p.(Ala273=)" "10" "" "0000368158" "00023838" "50" "1000" "0" "1000" "0" "c.1000C>G" "r.(?)" "p.Pro334Ala" "12" "" "0000368159" "00023838" "50" "420" "35" "420" "35" "c.420+35A>G" "r.(?)" "p.(=)" "?" "" "0000368160" "00023838" "50" "1357" "0" "1357" "0" "c.1357T>A" "r.(?)" "p.Tyr453Asn" "14" "" "0000368161" "00023838" "70" "933" "2" "933" "2" "c.933+2T>G" "r.spl?" "p.?" "10i" "" "0000368162" "00023838" "50" "577" "-5" "577" "-5" "c.577-5A>G" "r.spl?" "p.?" "7i" "" "0000368163" "00023838" "50" "1316" "0" "1316" "0" "c.1316T>C" "r.(?)" "p.(Leu439Pro)" "13" "" "0000368164" "00023838" "50" "1188" "0" "1188" "0" "c.1188T>C" "r.(?)" "p.(=)" "13" "" "0000417818" "00023838" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "10" "" "0000417819" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "13" "" "0000417820" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000417821" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000417822" "00023838" "50" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "" "0000417823" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000417824" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000417825" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000417826" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000417827" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000417828" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000417829" "00023838" "50" "1494" "0" "1494" "0" "c.1494G>C" "r.(1494g>c)" "p.(Gln498His)" "15" "" "0000417830" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000417831" "00023838" "50" "157" "30" "157" "30" "c.157+30A>G" "r.(=)" "p.(=)" "2i" "" "0000417832" "00023838" "50" "157" "30" "157" "30" "c.157+30A>G" "r.(=)" "p.(=)" "2i" "" "0000417833" "00023838" "50" "504" "35" "504" "35" "c.504+35G>A" "r.(=)" "p.(=)" "6i" "" "0000417834" "00023838" "50" "504" "35" "504" "35" "c.504+35G>A" "r.(=)" "p.(=)" "6i" "" "0000417835" "00023838" "50" "1477" "-40" "1477" "-40" "c.1477-40G>C" "r.(=)" "p.(=)" "14i" "" "0000417836" "00023838" "50" "1477" "-40" "1477" "-40" "c.1477-40G>C" "r.(=)" "p.(=)" "14i" "" "0000417837" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000417838" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000417839" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000417840" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000417841" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000417842" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000417843" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000417844" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000417845" "00023838" "50" "1323" "25" "1324" "-31" "c.1323+25_1324-31del" "r.(=); r.(spl?)" 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"r.(1014g>c)" "p.(Gln338His)" "12" "" "0000417986" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000417987" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000417988" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000417989" "00023838" "50" "312" "0" "312" "0" "c.312C>T" "r.(312c>u)" "p.(Tyr104Tyr)" "3" "" "0000417990" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000417991" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000417992" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000417993" "00023838" "50" "1418" "0" "1418" "0" "c.1418C>A" "r.(1418c>a)" "p.(Ala473Asp)" "14" "" "0000417994" "00023838" "50" "1418" "0" "1418" "0" "c.1418C>A" "r.(1418c>a)" "p.(Ala473Asp)" "14" "" "0000417995" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000417996" "00023838" "50" "1418" "0" "1418" "0" "c.1418C>A" "r.(1418c>a)" "p.(Ala473Asp)" "14" "" "0000417997" "00023838" "50" "36" "325" "36" "325" "c.36+325G>C" "r.spl" "p.?" "1i" "" "0000417998" "00023838" "50" "36" "325" "36" "325" "c.36+325G>C" "r.spl" "p.?" "1i" "" "0000417999" "00023838" "50" "36" "325" "36" "325" "c.36+325G>C" "r.spl" "p.?" "1i" "" "0000418000" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418001" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418002" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418003" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418004" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418005" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418006" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418007" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418008" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000418009" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000418010" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418011" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418012" "00023838" "70" "1179" "0" "1179" "0" "c.1179del" "r.(1179del)" "p.(Asn394ThrfsX14)" "12" "" "0000418013" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418014" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418015" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418016" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418017" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418018" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418019" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418020" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418021" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418022" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418023" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418024" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418025" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418026" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418027" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418028" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418029" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418030" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418031" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418032" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418033" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418034" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418035" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418036" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418037" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418038" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418039" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418040" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418041" "00023838" "70" "739" "0" "739" "0" "c.739C>T" "r.(739c>u)" "p.(Arg247X)" "9" "" "0000418042" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418043" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418044" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418045" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418046" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418047" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418048" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418049" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418050" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418051" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418052" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418053" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418054" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418055" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418056" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418057" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418058" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418059" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418060" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418061" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418062" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418063" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418064" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418065" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418066" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418067" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418068" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418069" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418070" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418071" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418072" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418073" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418074" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418075" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000418076" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000418077" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000418078" "00023838" "70" "1171" "0" "1171" "0" "c.1171C>T" "r.(1171c>u)" "p.(Gln391X)" "12" "" "0000418079" "00023838" "70" "1171" "0" "1171" "0" "c.1171C>T" "r.(1171c>u)" "p.(Gln391X)" "12" "" "0000418080" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418081" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418082" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418083" "00023838" "50" "691" "-1" "691" "-1" "c.691-1G>A" "r.(691_788del)" "p.(Ala231GlyfsX65)" "8i" "" "0000418084" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418085" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418086" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418087" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418088" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418089" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418090" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418091" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418092" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418093" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418094" "00023838" "90" "1438" "0" "1438" "0" "c.1438G>T" "r.(1438g>u)" "p.(Glu480X)" "14" "" "0000418095" "00023838" "50" "869" "0" "869" "0" "c.869G>A" "r.(869g>a)" "p.(Cys290Trp)" "10" "" "0000418096" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418097" "00023838" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(1213c>u)" "p.(Pro405Ser)" "13" "" "0000418098" "00023838" "50" "1241" "0" "1241" "0" "c.1241A>G" "r.(1241a>g)" "p.(Gln414Arg)" "13" "" "0000418099" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000418100" "00023838" 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"1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418224" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418225" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418226" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418227" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418228" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418229" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418230" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000418231" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418232" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418233" "00023838" "50" "1544" "0" "1544" 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"c.37-19C>G" "r.(=)" "p.(=)" "1i" "" "0000418244" "00023838" "50" "62" "0" "62" "0" "c.62C>T" "r.(62c>u)" "p.(Ala21Val)" "2" "" "0000418245" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418246" "00023838" "90" "289" "0" "289" "0" "c.289C>T" "r.(289c>u)" "p.(Arg97X)" "3" "" "0000418247" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(312c>a)" "p.(Tyr104X)" "3" "" "0000418248" "00023838" "50" "312" "0" "312" "0" "c.312C>T" "r.(312c>u)" "p.(Tyr104Tyr)" "3" "" "0000418249" "00023838" "50" "325" "0" "325" "0" "c.325C>T" "r.(325c>u)" "p.(Arg109Trp)" "3" "" "0000418250" "00023838" "50" "366" "0" "366" "0" "c.366C>T" "r.(366c>u)" "p.(Asp122Asp)" "4" "" "0000418251" "00023838" "50" "376" "0" "376" "0" "c.376C>T" "r.(376c>u)" "p.(Arg126Trp)" "4" "" "0000418252" "00023838" "50" "388" "55" "388" "55" "c.388+55G>A" "r.(=)" "p.(=)" "4i" "" "0000418253" "00023838" "90" "389" "-1" "389" "-1" "c.389-1G>C" "r.(389_462del)" "p.(Val130GlufsX98)" "4i" "" "0000418254" "00023838" "50" "463" "-39" "463" "-39" "c.463-39C>T" "r.(=)" "p.(=)" "5i" "" "0000418255" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418256" "00023838" "50" "544" "0" "544" "0" "c.544C>T" "r.(544c>u)" "p.(Arg182Cys)" "7" "" "0000418257" "00023838" "50" "607" "0" "607" "0" "c.607C>T" "r.(607c>u)" "p.(Arg203Cys)" "8" "" "0000418258" "00023838" "50" "650" "0" "650" "0" "c.650G>A" "r.(650g>a)" "p.(Arg217His)" "8" "" "0000418259" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(667a>g)" "p.(Ile223Val)" "8" "" "0000418260" "00023838" "50" "690" "21" "690" "21" "c.690+21C>A" "r.(=)" "p.(=)" "8i" "" "0000418261" "00023838" "50" "691" "-5" "691" "-5" "c.691-5G>T" "r.(=)" "p.(=)" "8i" "" "0000418262" "00023838" "90" "733" "0" "733" "0" "c.733C>T" "r.(733c>u)" "p.(Arg245Cys)" "9" "" "0000418263" "00023838" "90" "733" "0" "733" "0" "c.733C>T" "r.(733c>u)" "p.(Arg245Cys)" "9" "" "0000418264" "00023838" "70" "734" "0" "734" "0" "c.734G>A" "r.(734g>a)" "p.(Arg245His)" "9" "" "0000418265" "00023838" "50" "836" "0" "836" "0" "c.836A>G" "r.(836a>g)" "p.(Asn279Ser)" "10" "" "0000418266" "00023838" "90" "864" "0" "865" "0" "c.864_865del" "r.(864_865del)" "p.(Cys290TyrfsX38)" "10" "" "0000418267" "00023838" "50" "925" "0" "925" "0" "c.925C>T" "r.(925c>u)" "p.(Arg309Cys)" "10" "" "0000418268" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000418269" "00023838" "90" "940" "0" "940" "0" "c.940C>T" "r.(940c>u)" "p.(Gln314X)" "11" "" "0000418270" "00023838" "50" "994" "0" "994" "0" "c.994T>C" "r.(994u>c)" "p.(Cys332Arg)" "11" "" "0000418271" "00023838" "50" "997" "7" "997" "7" "c.997+7A>G" "r.(=)" "p.(=)" "11i" "" "0000418272" "00023838" "50" "998" "-27" "998" "-27" "c.998-27G>A" "r.(spl?); r.(=)" "p.(spl?); p.(=)" "11i" "" "0000418273" "00023838" "90" "998" "-1" "998" "-1" "c.998-1G>T" "r.(998_1186del)" "p.(Ala333_Ser395del)" "11i" "" "0000418274" "00023838" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(1012c>u)" "p.(Gln338X)" "12" "" "0000418275" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418276" "00023838" "70" "1038" "0" "1038" "0" "c.1038G>A" "r.spl" "p.(Ser346=)" "12" "" "0000418277" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418278" "00023838" "70" "1038" "0" "1038" "0" "c.1038G>A" "r.spl" "p.(Ser346=)" "12" "" "0000418279" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418280" "00023838" "50" "1076" "0" "1076" "0" "c.1076C>T" "r.(1076c>u)" "p.(Pro359Leu)" "12" "" "0000418281" "00023838" "50" "1077" "0" "1077" "0" "c.1077C>T" "r.(1077c>u)" "p.(Pro359Pro)" "12" "" "0000418282" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418283" "00023838" "50" "1163" "0" "1163" "0" "c.1163T>C" "r.(1163u>c)" "p.(Leu388Pro)" "12" "" "0000418284" "00023838" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(1171c>u)" "p.(Gln391X)" "12" "" "0000418285" "00023838" "50" "1187" "-27" "1187" "-27" "c.1187-27C>T" "r.(=)" "p.(=)" "12i" "" "0000418286" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418287" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000418288" "00023838" "50" "1258" "0" "1258" "0" "c.1258C>A" "r.(1258c>a)" "p.(Leu420Met)" "13" "" "0000418289" "00023838" "50" "1417" "0" "1417" "0" "c.1417G>A" "r.(1417g>a)" "p.(Ala473Thr)" "14" "" "0000418290" "00023838" "50" "1431" "0" "1431" "0" "c.1431G>C" "r.(1431g>c)" "p.(Thr477Thr)" "14" "" "0000418291" "00023838" "90" "1435" "0" "1435" "0" "c.1435G>T" "r.(1435g>u)" "p.(Glu479X)" "14" "" "0000418292" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418293" "00023838" "90" "1477" "0" "1477" "0" "c.1477G>T" "r.(1477g>u); r.(spl?)" "p.(Val493Phe)" "15" "" "0000418294" "00023838" "90" "1477" "0" "1477" "0" "c.1477G>T" "r.(1477g>u); r.(spl?)" "p.(Val493Phe)" "15" "" "0000418295" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000418296" "00023838" "50" "1548" "0" "1548" "0" "c.1548G>A" "r.(1548g>a)" "p.(Pro516Pro)" "16" "" "0000418297" "00023838" "50" "1601" "0" "1601" "0" "c.1601G>A" "r.(1601g>a)" "p.(Arg534Gln)" "16" "" "0000418298" "00023838" "50" "1609" "0" "1609" "0" "c.1609A>G" "r.(1609a>g)" "p.(Ile537Val)" "16" "" "0000418299" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418300" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418301" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418302" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418303" "00023838" "70" "1477" "0" "1477" "0" "c.1477G>T" "r.(1477g>u); r.(spl?)" "p.(Val493Phe)" "15" "" "0000418304" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418305" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000418306" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418307" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418308" "00023838" "70" "1477" "0" "1477" "0" "c.1477G>T" "r.(1477g>u); r.(spl?)" "p.(Val493Phe)" "15" "" "0000418309" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418310" "00023838" "50" "157" "30" "157" "30" "c.157+30A>G" "r.(=)" "p.(=)" "2i" "" "0000418311" "00023838" "50" "388" "56" "388" "56" "c.388+56G>A" "r.(=)" "p.(=)" "4i" "" "0000418312" "00023838" "50" "463" "-47" "463" "-47" "c.463-47C>T" "r.(=)" "p.(=)" "5i" "" "0000418313" "00023838" "50" "504" "35" "504" "35" "c.504+35G>A" "r.(=)" "p.(=)" "6i" "" "0000418314" "00023838" "50" "504" "35" "504" "35" "c.504+35G>A" "r.(=)" "p.(=)" "6i" "" "0000418315" "00023838" "50" "504" "35" "504" "35" "c.504+35G>A" "r.(=)" "p.(=)" "6i" "" "0000418316" "00023838" "50" "690" "21" "690" "21" "c.690+21C>A" "r.(=)" "p.(=)" "8i" "" "0000418317" "00023838" "50" "998" "-9" "998" "-9" "c.998-9C>T" "r.(=)" "p.(=)" "11i" "" "0000418318" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418319" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418320" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418321" "00023838" "50" "1477" "-17" "1477" "-17" "c.1477-17G>T" "r.(=)" "p.(=)" "14i" "" "0000418322" "00023838" "50" "1519" "-83" "1519" "-83" "c.1519-83G>C" "r.(=)" "p.(=)" "15i" "" "0000418323" "00023838" "90" "721" "0" "721" "0" "c.721C>T" "r.(721c>u)" "p.(Arg241Trp)" "9" "" "0000418324" "00023838" "90" "736" "0" "736" "0" "c.736G>T" "r.(736g>u)" "p.(Val246Phe)" "9" "" "0000418325" "00023838" "50" "1310" "0" "1310" "0" "c.1310G>A" "r.(1310g>a)" "p.(Arg437Gln)" "13" "" "0000418326" "00023838" "50" "1310" "0" "1310" "0" "c.1310G>C" "r.(1310g>c)" "p.(Arg437Pro)" "13" "" "0000418327" "00023838" "50" "1311" "0" "1311" "0" "c.1311G>A" "r.(1311g>a)" "p.(Arg437Arg)" "13" "" "0000418328" "00023838" "50" "1518" "479" "1518" "480" "c.1518+479_1518+480ins327" "r.(=)" "p.(=)" "15i" "" "0000418329" "00023838" "50" "56" "0" "56" "0" "c.56G>A" "r.(56g>a)" "p.(Arg19Gln)" "2" "" "0000418330" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418331" "00023838" "50" "1477" "-40" "1477" "-40" "c.1477-40G>C" "r.(=)" "p.(=)" "14i" "" "0000418332" "00023838" "50" "157" "75" "157" "75" "c.157+75G>A" "r.(=)" "p.(=)" "2i" "" "0000418333" "00023838" "50" "504" "35" "504" "35" "c.504+35G>A" "r.(=)" "p.(=)" "6i" "" "0000418334" "00023838" "50" "998" "-27" "998" "-27" "c.998-27G>A" "r.(spl?); 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998-13t>g]" "p.(Ala333GlyfsX83)" "11i" "" "0000418425" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418426" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000418427" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418428" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418429" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418430" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418431" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418432" "00023838" "70" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000418433" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418434" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000418435" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418436" "00023838" "50" "544" "0" "544" "0" "c.544C>T" "r.(544c>u)" "p.(Arg182Cys)" "7" "" "0000418437" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418438" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418439" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418440" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418441" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418442" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418443" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418444" "00023838" "70" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000418445" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418446" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418447" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418448" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418449" "00023838" "50" "1518" "119" "1518" "119" "c.1518+119G>A" "r.(=)" "p.(=)" "15i" "" "0000418450" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000418451" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000418452" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000418453" "00023838" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(1012c>u)" "p.(Gln338X)" "12" "" "0000418454" "00023838" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(1012c>u)" "p.(Gln338X)" "12" "" "0000418455" "00023838" "90" "1041" "0" "1042" "0" "c.1041_1042del" "r.(1041_1042del)" "p.(Glu347AspfsX184)" "12" "" "0000418456" "00023838" "50" "-8388608" "0" "8388607" "0" "c.?G>A" "r.(?)" "p.(?)" "12" "" "0000418457" "00023838" "50" "544" "0" "544" "0" "c.544C>T" "r.(544c>u)" "p.(Arg182Cys)" "7" "" "0000418458" "00023838" "50" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418459" "00023838" "50" "-8388608" "0" "8388607" "0" "c.?G>A" "r.(?)" "p.(?)" "12" "" "0000418460" "00023838" "50" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418461" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418462" "00023838" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(1213c>u)" "p.(Pro405Ser)" "13" "" "0000418464" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000418465" "00023838" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(1241a>g)" "p.(Gln414Arg)" "13" "" "0000418466" "00023838" "90" "1418" "0" "1418" "0" "c.1418C>A" "r.(1418c>a)" "p.(Ala473Asp)" "14" "" "0000418467" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418468" "00023838" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(1435g>a)" "p.(Glu479Lys)" "14" "" "0000418469" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418470" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418471" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418472" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000418473" "00023838" "90" "1438" "0" "1438" "0" "c.1438G>T" "r.(1438g>u)" "p.(Glu480X)" "14" "" "0000418474" "00023838" "70" "1461" "0" "1461" "0" "c.1461del" "r.(1461del)" "p.(Thr488ProfsX3)" "14" "" "0000418475" "00023838" "50" "1508" "0" "1508" "0" "c.1508G>A" "r.(1508g>a)" "p.(Gly503Glu)" "15" "" "0000418476" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000418477" "00023838" "50" "1585" "0" "1585" "0" "c.1585C>A" "r.(1585c>a)" "p.(Leu529Met)" "16" "" "0000418478" "00023838" "50" "1601" "0" "1601" "0" "c.1601G>A" "r.(1601g>a)" "p.(Arg534Gln)" "16" "" "0000418479" "00023838" "50" "8" "0" "8" "0" "c.8C>T" "r.(=)" "p.(Pro3Leu)" "1" "" "0000418480" "00023838" "90" "49" "0" "49" "0" "c.49A>T" "r.(49a>u)" "p.(Lys17X)" "2" "" "0000418481" "00023838" "50" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418482" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418483" "00023838" "90" "544" "0" "544" "0" "c.544C>T" "r.(544c>u)" "p.(Arg182Cys)" "7" "" "0000418484" "00023838" "50" "157" "30" "157" "30" "c.157+30A>G" "r.(=)" "p.(=)" "2i" "" "0000418485" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418486" "00023838" "90" "544" "0" "544" "0" "c.544C>T" "r.(544c>u)" "p.(Arg182Cys)" "7" "" "0000418488" "00023838" "50" "36" "325" "36" "325" "c.36+325G>C" "r.spl" "p.?" "1i" "" "0000418489" "00023838" "90" "289" "0" "289" "0" "c.289C>T" "r.(289c>u)" "p.(Arg97X)" "3" "" "0000418490" "00023838" "50" "307" "0" "307" "0" "c.307T>C" "r.(307u>c)" "p.(Trp103Arg)" "3" "" "0000418491" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(312c>a)" "p.(Tyr104X)" "3" "" "0000418492" "00023838" "90" "382" "0" "382" "0" "c.382T>C" "r.(382u>c)" "p.(Tyr128His)" "4" "" "0000418493" "00023838" "50" "388" "56" "388" "56" "c.388+56G>A" "r.(=)" "p.(=)" "4i" "" "0000418494" "00023838" "90" "389" "-1" "389" "-1" "c.389-1G>A" "r.(389_462del)" "p.(Val130GlufsX98)" "4i" "" "0000418495" "00023838" "90" "391" "0" "391" "0" "c.391T>A" "r.(391u>a)" "p.(Trp131Arg)" "5" "" "0000418496" "00023838" "90" "453" "0" "458" "0" "c.453_458dup" "r.(453_458dup)" "p.(Trp152_Met153insIleTrp)" "5" "" "0000418497" "00023838" "90" "544" "0" "544" "0" "c.544C>T" "r.(544c>u)" "p.(Arg182Cys)" "7" "" "0000418498" "00023838" "50" "1091" "0" "1091" "0" "c.1091G>A" "r.(1091g>a)" "p.(Arg364His)" "12" "" "0000418499" "00023838" "50" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418500" "00023838" "90" "545" "0" "545" "0" "c.545G>A" "r.(545g>a)" "p.(Arg182His)" "7" "" "0000418501" "00023838" "70" "554" "0" "554" "0" "c.554G>A" "r.(554g>a)" "p.(Arg185Gln)" "7" "" "0000418502" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418503" "00023838" "90" "647" "0" "647" "0" "c.647G>A" "r.(647g>a)" "p.(Gly216Glu)" "8" "" "0000418504" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418505" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(667a>g)" "p.(Ile223Val)" "8" "" "0000418506" "00023838" "50" "680" "0" "680" "0" "c.680C>T" "r.(680c>u)" "p.(Ala227Val)" "8" "" "0000418507" "00023838" "50" "690" "21" "690" "21" "c.690+21C>A" "r.(=)" "p.(=)" "8i" "" "0000418510" "00023838" "90" "733" "0" "733" "0" "c.733C>T" "r.(733c>u)" "p.(Arg245Cys)" "9" "" "0000418511" "00023838" "70" "734" "0" "734" "0" "c.734G>A" "r.(734g>a)" "p.(Arg245His)" "9" "" "0000418512" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418513" "00023838" "90" "734" "0" "734" "0" "c.734G>A" "r.(734g>a)" "p.(Arg245His)" "9" "" "0000418514" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000418515" "00023838" "50" "998" "-27" "998" "-27" "c.998-27G>A" "r.(spl?); r.(=)" "p.(spl?); p.(=)" "11i" "" "0000418516" "00023838" "50" "998" "-8" "998" "-8" "c.998-8G>A" "r.(=)" "p.(=)" "11i" "" "0000418517" "00023838" "50" "1187" "-27" "1187" "-27" "c.1187-27C>T" "r.(=)" "p.(=)" "12i" "" "0000418518" "00023838" "50" "-8388608" "0" "8388607" "0" "c.?C>A" "r.?" 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"1i" "" "0000418529" "00023838" "50" "36" "325" "36" "325" "c.36+325G>C" "r.spl" "p.?" 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"" "0000418644" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418645" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418646" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418647" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418648" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418649" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418650" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418651" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418652" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418653" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418654" 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"1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418665" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418666" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418667" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418668" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418669" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418670" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418671" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418672" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418673" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418674" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418675" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418676" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418677" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418678" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418679" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418680" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418681" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418682" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418683" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418684" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418685" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418686" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418687" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418688" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418689" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418690" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418691" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418692" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418693" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418694" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418695" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418696" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418697" "00023838" "90" "1438" "0" "1440" "0" "c.1438_1440del" "r.(1438_1440del)" "p.(Glu480del)" "14" "" "0000418698" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418699" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418700" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418701" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418702" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418703" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418704" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418705" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418706" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418707" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418708" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418709" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418710" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418711" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418712" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418713" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418714" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418715" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418716" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418717" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418718" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418719" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418720" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418721" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418722" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418723" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418724" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418725" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418726" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418727" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418728" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418729" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418730" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418731" "00023838" "50" "1038" "0" "1038" "0" "c.1038G>A" "r.spl" "p.(Ser346=)" "12" "" "0000418732" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418733" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418734" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418735" "00023838" "50" "1465" "0" "1465" "0" "c.1465G>A" "r.(1465g>a)" "p.(Ala489Thr)" "14" "" "0000418736" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418737" "00023838" "70" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000418738" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418739" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418740" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418741" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418742" "00023838" "50" "309" "0" "309" "0" "c.309G>A" "r.(309g>a)" "p.(Trp103X)" "3" "" "0000418743" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418744" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418745" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418746" "00023838" "70" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000418747" "00023838" "70" "1438" "0" "1440" "0" "c.1438_1440del" "r.(1438_1440del)" "p.(Glu480del)" "14" "" "0000418748" "00023838" "70" "1438" "0" "1440" "0" "c.1438_1440del" "r.(1438_1440del)" "p.(Glu480del)" "14" "" "0000418749" "00023838" "90" "733" "0" "733" "0" "c.733C>T" "r.(733c>u)" "p.(Arg245Cys)" "9" "MSH6 binding domain" "0000418750" "00023838" "90" "733" "0" "733" "0" "c.733C>T" "r.(733c>u)" "p.(Arg245Cys)" "9" "MSH6 binding domain" "0000418751" "00023838" "90" "934" "-2" "934" "-2" "c.934-2A>G" "r.[933_934ins933+1_934-1;934-2a>g]" "p.(Glu313SerfsX8)" "10i" "" "0000418752" "00023838" "90" "934" "-2" "934" "-2" "c.934-2A>G" "r.[933_934ins933+1_934-1;934-2a>g]" "p.(Glu313SerfsX8)" "10i" "" "0000418753" "00023838" "90" "934" "-2" "934" "-2" "c.934-2A>G" "r.[933_934ins933+1_934-1;934-2a>g]" "p.(Glu313SerfsX8)" "10i" "" "0000418754" "00023838" "50" "36" "11" "36" "11" "c.36+11C>T" "r.(=)" "p.(=)" "1i" "" "0000418755" "00023838" "50" "157" "30" "157" "30" "c.157+30A>G" "r.(=)" "p.(=)" "2i" "" "0000418756" "00023838" "50" "157" "75" "157" "75" "c.157+75G>A" "r.(=)" "p.(=)" "2i" "" "0000418757" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418758" "00023838" "50" "690" "21" "690" "21" "c.690+21C>A" "r.(=)" "p.(=)" "8i" "" "0000418759" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418760" "00023838" "50" "1187" "-27" "1187" "-27" "c.1187-27C>T" "r.(=)" "p.(=)" "12i" "" "0000418761" "00023838" "50" "1431" "0" "1431" "0" "c.1431G>C" "r.(1431g>c)" "p.(Thr477Thr)" "14" "" "0000418762" "00023838" "50" "1477" "-40" "1477" "-40" "c.1477-40G>C" "r.(=)" "p.(=)" "14i" "" "0000418763" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000418764" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418765" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418766" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418767" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418768" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418769" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418770" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418771" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418772" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418773" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418774" "00023838" "50" "1310" "0" "1310" "0" 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"r.(64g>a)" "p.(Val22Met)" "2" "" "0000418785" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418786" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418787" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418788" "00023838" "70" "294" "0" "294" "0" "c.294del" "r.(294del)" "p.(Ser99AlafsX3)" "3" "" "0000418789" "00023838" "70" "453" "0" "458" "0" "c.453_458dup" "r.(453_458dup)" "p.(Trp152_Met153insIleTrp)" "5" "" "0000418790" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418791" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418792" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418793" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418794" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418795" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418796" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418797" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418798" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418799" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(667a>g)" "p.(Ile223Val)" "8" "" "0000418800" "00023838" "70" "734" "0" "734" "0" "c.734G>A" "r.(734g>a)" "p.(Arg245His)" "9" "" "0000418801" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418802" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418803" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418804" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418805" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418806" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418807" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418808" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418809" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000418810" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418811" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000418812" "00023838" "70" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000418813" "00023838" "70" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000418814" "00023838" "70" "1101" "0" "1101" "0" "c.1101dup" "r.(1101dup)" "p.(Arg368GlnfsX164)" "12" "" "0000418815" "00023838" "70" "847" "0" "847" "0" "c.847A>G" "r.(847a>g)" "p.(Met283Val)" "10" "" "0000418816" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418817" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418818" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418819" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418820" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418821" "00023838" "50" "539" "0" "539" "0" "c.539A>C" "r.(539a>c)" "p.(Tyr180Ser)" "7" "" "0000418822" "00023838" "70" "1163" "0" "1163" "0" "c.1163T>C" "r.(1163u>c)" "p.(Leu388Pro)" "12" "" "0000418823" "00023838" "70" "1246" "0" "1246" "0" "c.1246C>T" "r.(1246c>u)" "p.(Gln416X)" "13" "" "0000418824" "00023838" "70" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000418825" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418826" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418827" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418828" "00023838" "90" "1437" "0" "1440" "0" "c.1437_1440del" "r.(1437_1440del)" "p.(Glu479AspfsX11)" "14" "" "0000418829" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418830" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418831" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418832" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418833" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418834" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418835" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418836" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418837" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418838" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418839" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418840" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(312c>a)" "p.(Tyr104X)" "3" "" "0000418841" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(312c>a)" "p.(Tyr104X)" "3" "" "0000418842" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000418843" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418844" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418845" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.[=, 463_504del]" "p.([=, Lys155_Glu168del])" "6i" "" "0000418846" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.[=, 463_504del]" "p.([=, Lys155_Glu168del])" "6i" "" "0000418847" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418848" "00023838" "90" "544" "0" "544" "0" "c.544C>T" "r.(544c>u)" "p.(Arg182Cys)" "7" "" "0000418849" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(312c>a)" "p.(Tyr104X)" "3" "" "0000418850" "00023838" "90" "522" "0" "522" "0" "c.522G>A" "r.(522g>a)" "p.(Trp174X)" "7" "" "0000418851" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418852" "00023838" "90" "1230" "0" "1231" "0" "c.1230_1231dup" "r.(1230_1231dup)" "p.(Pro411ArgfsX42)" "13" "" "0000418853" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418854" "00023838" "90" "241" "0" "242" "0" "c.241_242del" "r.(241_242del)" "p.(Val81LeufsX11)" "3" "" "0000418855" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418856" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418857" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000418858" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418859" "00023838" "90" "421" "0" "421" "0" "c.421del" "r.(421del)" "p.(Gln141ArgfsX5)" "5" "" "0000418860" "00023838" "90" "545" "0" "545" "0" "c.545G>A" "r.(545g>a)" "p.(Arg182His)" "7" "" "0000418861" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(312c>a)" "p.(Tyr104X)" "3" "" "0000418862" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000418863" "00023838" "50" "551" "0" "551" "0" "c.551G>A" "r.(551g>a)" "p.(Arg184Gln)" "7" "" "0000418864" "00023838" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(1118c>u)" "p.(Ala373Val)" "12" "" "0000418865" "00023838" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(1118c>u)" "p.(Ala373Val)" "12" "" "0000418866" "00023838" "50" "74" "0" "74" "0" "c.74G>A" "r.(74g>a)" "p.(Gly25Asp)" "2" "" "0000418867" "00023838" "50" "53" "0" "53" "0" "c.53C>T" "r.(53c>u)" "p.(Pro18Leu)" "2" "" "0000418868" "00023838" "50" "74" "0" "74" "0" "c.74G>A" "r.(74g>a)" "p.(Gly25Asp)" "2" "" "0000418869" "00023838" "50" "74" "0" "74" "0" "c.74G>A" "r.(74g>a)" "p.(Gly25Asp)" "2" "" "0000418870" "00023838" "50" "53" "0" "53" "0" "c.53C>T" "r.(53c>u)" "p.(Pro18Leu)" "2" "" "0000418871" "00023838" "50" "53" "0" "53" "0" "c.53C>T" "r.(53c>u)" "p.(Pro18Leu)" "2" "" "0000418872" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418873" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418874" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418875" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418876" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418877" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000418878" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418879" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418880" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000418881" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000418882" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000418883" "00023838" "90" "312" "0" 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"0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419096" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419097" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000419098" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000419099" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000419100" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000419101" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419102" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419103" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419104" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" 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"1i" "" "0000419127" "00023838" "70" "1199" "0" "1199" "0" "c.1199G>T" "r.(1199g>u)" "p.(Gly400Val)" "13" "" "0000419128" "00023838" "70" "481" "0" "481" "0" "c.481G>C" "r.(481g>c)" "p.(Asp161His)" "6i" "" "0000419129" "00023838" "70" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000419130" "00023838" "50" "388" "56" "388" "56" "c.388+56G>A" "r.(=)" "p.(=)" "4i" "" "0000419131" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419132" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419133" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419134" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419135" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419136" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419137" 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"r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000419147" "00023838" "50" "1186" "9" "1186" "9" "c.1186+9A>T" "r.(=)" "p.(=)" "12i" "" "0000419148" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000419149" "00023838" "70" "925" "0" "925" "0" "c.925C>T" "r.(925c>u)" "p.(Arg309Cys)" "10" "" "0000419150" "00023838" "50" "690" "21" "690" "21" "c.690+21C>G" "r.(=)" "p.(=)" "8i" "" "0000419151" "00023838" "50" "379" "0" "379" "0" "c.379G>A" "r.(379g>a)" "p.(Ala127Thr)" "4" "" "0000419152" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419153" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.[=, 463_504del]" "p.([=, Lys155_Glu168del])" "6i" "" "0000419154" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000419155" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000419156" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000419157" "00023838" "50" "1241" "0" "1241" "0" "c.1241A>G" "r.(1241a>g)" "p.(Gln414Arg)" "13" "" "0000419158" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419159" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419160" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419161" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419162" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000419163" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419164" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419165" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419166" "00023838" "50" "505" "-4" "505" "-4" "c.505-4A>G" "r.(=)" "p.(=)" "6i" "" "0000419167" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419168" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419169" "00023838" "50" "325" "0" "325" "0" "c.325C>T" "r.(325c>u)" "p.(Arg109Trp)" "3" "" "0000419170" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419171" "00023838" "50" "739" "0" "739" "0" "c.739C>G" "r.(739c>g)" "p.(Arg247Gly)" "9" "" "0000419172" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000419173" "00023838" "50" "-127" "0" "-127" "0" "c.-127C>T" "r.(=)" "p.(=)" "_1" "" "0000419174" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000419175" "00023838" "50" "312" "0" "312" "0" "c.312C>T" "r.(312c>u)" "p.(Tyr104Tyr)" "3" "" "0000419176" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" 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"p.(Gly396Asp)" "13" "" "0000419187" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419188" "00023838" "70" "713" "0" "713" "0" "c.713A>G" "r.(713a>g)" "p.(Asn238Ser)" "9" "" "0000419189" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000419190" "00023838" "70" "734" "0" "734" "0" "c.734G>A" "r.(734g>a)" "p.(Arg245His)" "9" "" "0000419191" "00023838" "70" "713" "0" "713" "0" "c.713A>G" "r.(713a>g)" "p.(Asn238Ser)" "9" "" "0000419192" "00023838" "50" "722" "0" "722" "0" "c.722G>A" "r.(722g>a)" "p.(Arg241Gln)" "9" "" "0000419193" "00023838" "50" "1441" "0" "1441" "0" "c.1441T>A" "r.(1441u>a)" "p.(Phe481Ile)" "14" "" "0000419194" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419195" "00023838" "90" "1289" "0" "1303" "0" "c.1289_1303del" "r.(1289_1303del)" "p.(Pro430_Thr434del)" "13" "" "0000419196" "00023838" "50" "453" "0" "453" "0" "c.453A>C" "r.(453a>c)" "p.(Gly151Gly)" "5" "" "0000419197" "00023838" "50" "665" "0" "665" "0" "c.665C>T" "r.(665c>u)" "p.(Ala222Val)" "8" "" "0000419198" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000419199" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419200" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419201" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419202" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419203" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419204" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419205" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419206" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419207" "00023838" "50" "690" "21" "690" "21" "c.690+21C>A" "r.(=)" "p.(=)" "8i" "" "0000419208" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419209" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419210" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000419211" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000419212" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419213" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419214" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.[=, 463_504del]" "p.([=, Lys155_Glu168del])" "6i" "pseudo-HhH motif" "0000419215" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000419216" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.[=, 463_504del]" "p.([=, Lys155_Glu168del])" "6i" "" "0000419218" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.[=, 463_504del]" "p.([=, Lys155_Glu168del])" "6i" "pseudo-HhH motif" "0000419219" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.[=, 463_504del]" "p.([=, Lys155_Glu168del])" "6i" "pseudo-HhH motif" "0000419220" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419221" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419236" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419237" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419238" "00023838" "70" "453" "0" "458" "0" "c.453_458dup" "r.(453_458dup)" "p.(Trp152_Met153insIleTrp)" "5" "" "0000419239" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419241" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(667a>g)" "p.(Ile223Val)" "8" "" "0000419242" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419243" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419248" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419249" "00023838" "70" "1012" "0" "1012" "0" "c.1012C>T" "r.(1012c>u)" "p.(Gln338X)" "12" "" "0000419250" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(1544c>u)" "p.(Ser515Phe)" "16" "" "0000419251" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419252" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419253" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000419256" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000419257" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000419258" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419259" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419260" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419261" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419262" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419263" "00023838" "50" "20" "0" "20" "0" "c.20G>A" "r.(20g>a)" "p.(Arg7His)" "1" "" "0000419264" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419265" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419266" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" 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"c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419529" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000419530" "00023838" "50" "545" "0" "545" "0" "c.545G>A" "r.(545g>a)" "p.(Arg182His)" "7" "" "0000419531" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(1437_1439del)" "p.(Glu480del)" "14" "" "0000419532" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419533" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419534" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419535" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419536" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419537" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419538" "00023838" "50" "1518" "2" "1518" "2" 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"p.(Tyr179Cys)" "7" "" "0000419945" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419946" "00023838" "50" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419947" "00023838" "50" "722" "0" "722" "0" "c.722G>A" "r.(722g>a)" "p.(Arg241Gln)" "9" "" "0000419948" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(667a>g)" "p.(Ile223Val)" "8" "" "0000419949" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419950" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(667a>g)" "p.(Ile223Val)" "8" "" "0000419951" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419952" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419953" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000419954" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(884c>u)" "p.(Pro295Leu)" "10" "" "0000419955" "00023838" "90" "156" "5" "156" "5" "c.156+5G>C" "r.spl" "p.?" "2i" "" "0000419956" "00023838" "50" "998" "-27" "998" "-27" "c.998-27G>A" "r.(?)" "p.(=)" "11i" "" "0000419957" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419958" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419959" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419960" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419961" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000419962" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000419963" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000419964" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419965" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.789_933del" "p.(Gly264TrpfsX7)" "10i" "" "0000419966" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419967" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419968" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419969" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419970" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000419971" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000419972" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419973" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419974" "00023838" "50" "64" "0" "64" "0" "c.64G>A" "r.(64g>a)" "p.(Val22Met)" "2" "" "0000419975" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000419976" "00023838" "90" "566" "0" "566" "0" "c.566G>A" "r.(566g>a)" "p.(Gly189Glu)" "7" "" "0000419977" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000419978" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419979" "00023838" "50" "1276" "0" "1276" "0" "c.1276C>T" "r.(1276c>u)" "p.(Arg426Cys)" "13" "" "0000419980" "00023838" "50" "1187" "-27" "1187" "-27" "c.1187-27C>T" "r.(=)" "p.(=)" "12i" "" "0000419981" "00023838" "50" "1518" "479" "1518" "480" "c.1518+479_1518+480ins326" "r.?" "p.?" "15i" "" "0000419982" "00023838" "70" "348" "33" "1714" "146" "c.348+33_*64+146del4285insTA" "r.?" "p.?" "3i_16_" "" "0000419983" "00023838" "90" "348" "10" "348" "10" "c.348+10C>T" "r.348_349insGTAGGCAG" "p.Ala117ValfsX32" "3i" "" "0000419984" "00023838" "90" "348" "10" "348" "10" "c.348+10C>T" "r.348_349insGTAGGCAG" "p.Ala117ValfsX32" "3i" "" "0000419985" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000419986" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419987" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419988" "00023838" "70" "389" "-1" "389" "-1" "c.389-1G>C" "r.(389_462del)" "p.(Val130Glufs*98)" "4i" "" "0000419989" "00023838" "90" "721" "0" "721" "0" "c.721C>T" "r.(721c>u)" "p.(Arg241Trp)" "9" "" "0000419990" "00023838" "90" "721" "0" "721" "0" "c.721C>T" "r.(721c>u)" "p.(Arg241Trp)" "9" "" "0000419991" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000419992" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419993" "00023838" "90" "348" "33" "1714" "146" "c.348+33_*64+146del4285insTA" "r.?" "p.?" "3i_16_" "" "0000419994" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419995" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000419996" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419997" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000419998" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000419999" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000420000" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(1214c>u)" "p.(Pro405Leu)" "13" "" "0000420001" "00023838" "50" "36" "325" "36" "325" "c.36+325G>C" "r.spl" "p.?" "1i" "" "0000420002" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000420003" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000420004" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(1147del)" "p.(Ala385ProfsX23)" "12" "" "0000420005" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000420006" "00023838" "50" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000420007" "00023838" "50" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000420008" "00023838" "50" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000420009" "00023838" "50" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000420010" "00023838" "50" "504" "35" "504" "35" "c.504+35G>A" "r.(=)" "p.(=)" "6i" "" "0000420011" "00023838" "50" "1014" "0" "1014" "0" "c.1014G>C" "r.(1014g>c)" "p.(Gln338His)" "12" "" "0000420012" "00023838" "50" "36" "325" "36" "325" "c.36+325G>C" "r.?" "p.?" "1i" "" "0000420013" "00023838" "70" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.Ala266Gly" "10" "" "0000420014" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(?)" "p.(Glu480del)" "14" "" "0000420015" "00023838" "50" "819" "0" "819" "0" "c.819C>G" "r.(?)" "p.(Ala273=)" "10" "" "0000420016" "00023838" "50" "1000" "0" "1000" "0" "c.1000C>G" "r.(?)" "p.Pro334Ala" "12" "" "0000420017" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000420018" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(1227_1228dup)" "p.(Glu410GlyfsX43)" "13" "" "0000420020" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000420022" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000420024" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(536a>g)" "p.(Tyr179Cys)" "7" "" "0000420025" "00023838" "50" "1357" "0" "1357" "0" "c.1357T>A" "r.(?)" "p.Tyr453Asn" "14" "" "0000420026" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.(=)" "p.(=)" "6i" "" "0000420027" "00023838" "70" "933" "2" "933" "2" "c.933+2T>G" "r.spl?" "p.?" "10i" "" "0000420028" "00023838" "50" "577" "-5" "577" "-5" "c.577-5A>G" "r.spl?" "p.?" "7i" "" "0000420029" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Gly396Asp)" "13" "" "0000420030" "00023838" "50" "1316" "0" "1316" "0" "c.1316T>C" "r.(?)" "p.(Leu439Pro)" "13" "" "0000420031" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385ProfsX23)" "12" "" "0000420032" "00023838" "50" "1188" "0" "1188" "0" "c.1188T>C" "r.(?)" "p.(=)" "13" "" "0000420033" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420034" "00023838" "50" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Ala547Thr)" "" "" "0000420035" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385Profs*23)" "" "" "0000420036" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420037" "00023838" "90" "1477" "0" "1477" "0" "c.1477G>T" "r.(?)" "p.(Val493Phe)" "" "" "0000420038" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(?)" "p.(Tyr104*)" "" "" "0000420039" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385Profs*23)" "" "" "0000420040" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(?)" "p.(Glu410Glyfs*43)" "" "" "0000420041" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420042" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420043" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420044" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420045" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420046" "00023838" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Trp)" "" "" "0000420047" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420048" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420049" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420050" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420051" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420052" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420053" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420054" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385Profs*23)" "" "" "0000420055" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420056" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420057" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420058" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420059" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420060" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420061" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420062" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.(?)" "p.?" "" "" "0000420063" "00023838" "90" "1477" "0" "1477" "0" "c.1477G>T" "r.(?)" "p.(Val493Phe)" "" "" "0000420064" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420065" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420066" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385Profs*23)" "" "" "0000420067" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420068" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420069" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(?)" "p.(Glu410Glyfs*43)" "" "" "0000420070" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420071" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(?)" "p.(Glu480del)" "" "" "0000420072" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000420073" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420074" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000420075" "00023838" "90" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "" "0000420076" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" 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"p.Tyr179Cys" "" "" "0000500641" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000500642" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.Gly396Asp" "" "" "0000500643" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.Gly396Asp" "" "" "0000500644" "00023838" "50" "736" "0" "736" "0" "c.736G>T" "r.(?)" "p.Val246Phe" "" "" "0000500645" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.Gly396Asp" "" "" "0000507640" "00023838" "10" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534Gln)" "" "" "0000507641" "00023838" "50" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Ala489Thr)" "" "" "0000507642" "00023838" "10" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(Thr483=)" "" "" "0000507643" "00023838" "30" "1447" "0" "1447" "0" "c.1447A>C" "r.(?)" "p.(Thr483Pro)" "" "" "0000507644" "00023838" "10" "1324" "-20" "1324" "-20" "c.1324-20C>T" "r.(=)" "p.(=)" "" "" "0000507645" "00023838" "30" "1310" "0" "1310" "0" "c.1310G>A" "r.(?)" "p.(Arg437Gln)" "" "" "0000507646" "00023838" "30" "1258" "0" "1258" "0" "c.1258C>A" "r.(?)" "p.(Leu420Met)" "" "" "0000507647" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(?)" "p.(Glu410GlyfsTer43)" "" "" "0000507648" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(?)" "p.(Glu410GlyfsTer43)" "" "" "0000507649" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "" "0000507650" "00023838" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "" "0000507651" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000507652" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385ProfsTer23)" "" "" "0000507653" "00023838" "50" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Gln338Arg)" "" "" "0000507654" "00023838" "70" "997" "0" "997" "0" "c.997G>C" "r.(?)" "p.(Ala333Pro)" "" "" "0000507656" "00023838" "30" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000507657" "00023838" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000507658" "00023838" "30" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000507659" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Pro295Leu)" "" "" "0000507660" "00023838" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294His)" "" "" "0000507661" "00023838" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Ter)" "" "" "0000507662" "00023838" "90" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "" "0000507663" "00023838" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "" "0000507664" "00023838" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "" "0000507665" "00023838" "50" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "" "0000507666" "00023838" "50" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "" "0000507667" "00023838" "70" "608" "0" "608" "0" "c.608G>C" "r.(?)" "p.(Arg203Pro)" "" "" "0000507668" "00023838" "90" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "" "" "0000507669" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000507670" "00023838" "10" "505" "-4" "505" "-4" "c.505-4A>G" "r.spl?" "p.?" "" "" "0000507671" "00023838" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Thr150=)" "" "" "0000507672" "00023838" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Thr150=)" "" "" "0000507673" "00023838" "50" "389" "-6" "389" "-6" "c.389-6C>T" "r.(=)" "p.(=)" "" "" "0000507674" "00023838" "30" "389" "-12" "389" "-12" "c.389-12C>T" "r.(=)" "p.(=)" "" "" "0000507675" "00023838" "30" "388" "56" "388" "56" "c.388+56G>A" "r.(=)" "p.(=)" "" "" "0000507676" "00023838" "90" "352" "0" "352" "0" "c.352G>T" "r.(?)" "p.(Glu118Ter)" "" "" "0000507677" "00023838" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "" "0000507678" "00023838" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "" "0000507679" "00023838" "50" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Asp105Asn)" "" "" "0000507680" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(?)" "p.(Tyr104Ter)" "" "" "0000507681" "00023838" "50" "236" "0" "236" "0" "c.236C>A" "r.(?)" "p.(Ala79Asp)" "" "" "0000507682" "00023838" "30" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Glu74=)" "" "" "0000507683" "00023838" "10" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Lys47=)" "" "" "0000507684" "00023838" "10" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Val22Met)" "" "" "0000507685" "00023838" "10" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Val22Met)" "" "" "0000507686" "00023838" "10" "64" "0" "64" "0" "c.64G>A" "r.(?)" 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"p.Gly396Asp" "" "" "0000593699" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.Gly396Asp" "" "" "0000594738" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385ProfsTer23)" "" "" "0000594740" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.Gly396Asp" "" "" "0000594741" "00023838" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.Arg97Gln" "" "" "0000594742" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.Tyr179Cys" "" "" "0000594743" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.Gly396Asp" "" "" "0000594744" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.Gly396Asp" "" "" "0000594745" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.(?)" "p.?" "" "" "0000594746" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.Gly396Asp" "" "" "0000594747" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.Gly396Asp" "" "" "0000594748" "00023838" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" 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"p.(Gly396Asp)" "" "" "0000595819" "00023838" "50" "504" "22" "504" "22" "c.504+22G>A" "r.(?)" "p.(?)" "" "" "0000595821" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000597234" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000597246" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000598351" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000598352" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000598591" "00023838" "10" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "" "" "0000598592" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "" "" "0000598610" "00023838" "10" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "" "" "0000598611" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "" "" "0000598622" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000598646" "00023838" "10" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "" "" "0000598647" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "" "" "0000598648" "00023838" "10" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Val22Met)" "" "" "0000598657" "00023838" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Gln338*)" "" "" "0000598658" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000598690" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "" "" "0000598698" "00023838" "10" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "" "" "0000598717" "00023838" "10" "1435" "-40" "1435" "-40" "c.1435-40C>G" "r.(?)" "p.(=)" "" "" "0000598718" "00023838" "10" "462" "35" "462" "35" "c.462+35A>G" "r.(?)" "p.(=)" "" "" "0000598719" "00023838" "10" "972" "0" "972" "0" "c.972G>C" "r.(?)" "p.(Gln324His)" "" "" "0000599083" "00023838" "10" "1014" "0" "1014" "0" "c.1014G>C" "r.(?)" "p.(Gln338His)" "12" "" "0000599084" "00023838" "10" "1014" "0" "1014" "0" "c.1014G>C" "r.(?)" "p.(Gln338His)" "12" "" "0000599085" "00023838" "10" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Val22Met)" "2" "" "0000602990" "00023838" "70" "690" "1" "690" "1" "c.690+1G>A" "r.(?)" "p.(?)" "" "" "0000605798" "00023838" "10" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534Gln)" "" "" "0000605799" "00023838" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Ter)" "" "" "0000605800" "00023838" "50" "643" "0" "643" "0" "c.643G>T" "r.(?)" "p.(Val215Leu)" "" "" "0000605801" "00023838" "50" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "" "0000605802" "00023838" "90" "389" "-1" "389" "-1" "c.389-1G>A" "r.spl?" "p.?" "" "" "0000605803" "00023838" "30" "389" "-6" "389" "-6" "c.389-6C>T" "r.(=)" "p.(=)" "" "" "0000605804" "00023838" "30" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Gly56Val)" "" "" "0000620651" "00023838" "70" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "" "" "0000620652" "00023838" "50" "-1692" "0" "-1692" "0" "c.-1692G>T" "r.(?)" "p.(=)" "" "" "0000620653" "00023838" "70" "-2826" "0" "-2748" "0" "c.-2826_-2748del" "r.(?)" "p.(=)" "" "" "0000647712" "00023838" "90" "1418" "0" "1418" "0" "c.1418C>A" "r.(?)" "p.(Ala473Asp)" "" "" "0000647713" "00023838" "50" "1258" "0" "1258" "0" "c.1258C>A" "r.(?)" "p.(Leu420Met)" "" "" "0000647714" "00023838" "70" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000647715" "00023838" "50" "934" "-2" "934" "-2" "c.934-2A>G" "r.spl?" "p.?" "" "" "0000647716" "00023838" "70" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "" "0000647717" "00023838" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Cys)" "" "" "0000647718" "00023838" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "" "0000647719" "00023838" "70" "389" "-2" "389" "-2" "c.389-2A>G" "r.spl?" "p.?" "" "" "0000647720" "00023838" "70" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "" "0000647721" "00023838" "10" "157" "30" "157" "30" "c.157+30A>G" "r.(=)" "p.(=)" "" "" "0000652970" "00023838" "70" "504" "2" "504" "2" "c.504+2T>G" "r.spl?" "p.?" "" "" "0000653098" "00023838" "90" "312" "0" "312" "0" "c.312C>A" "r.(?)" "p.(Tyr104*)" "" "" "0000653099" "00023838" "30" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Val22Met)" "" "" "0000653327" "00023838" "70" "1102" "0" "1102" "0" "c.1102dup" "r.(?)" "p.(Arg368Lysfs*164)" "" "" "0000654050" "00023838" "30" "1547" "0" "1547" "0" "c.1547C>A" "r.(?)" "p.(Pro516Gln)" "" "" "0000654051" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(?)" "p.(Glu480del)" "" "" "0000654052" "00023838" "50" "1393" "0" "1393" "0" "c.1393C>G" "r.(?)" "p.(Pro465Ala)" "" "" "0000654053" "00023838" "30" "1186" "9" "1186" "9" "c.1186+9A>T" "r.(=)" "p.(=)" "" "" "0000654054" "00023838" "30" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(Asn335Ser)" "" "" "0000659670" "00023838" "70" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000675203" "00023838" "70" "1477" "-1" "1477" "-1" "c.1477-1G>A" "r.spl?" "p.?" "" "" "0000675873" "00023838" "30" "1585" "0" "1585" "0" "c.1585C>A" "r.(?)" "p.(Leu529Met)" "" "" "0000675874" "00023838" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Gln391Ter)" "" "" "0000675875" "00023838" "70" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185Gln)" "" "" "0000675876" "00023838" "30" "-1243" "0" "-1243" "0" "c.-1243G>A" "r.(?)" "p.(=)" "" "" "0000682742" "00023838" "70" "157" "1" "157" "1" "c.157+1G>A" "r.spl?" "p.?" "" "" "0000688187" "00023838" "30" "1477" "-12" "1477" "-12" "c.1477-12C>A" "r.(=)" "p.(=)" "" "" "0000688188" "00023838" "10" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(Thr483=)" "" "" "0000688189" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(?)" "p.(Glu480del)" "" "" "0000688190" "00023838" "50" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "" "" "0000688191" "00023838" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385ProfsTer23)" "" "" "0000688192" "00023838" "30" "-1715" "0" "-1715" "0" "c.-1715A>G" "r.(?)" "p.(=)" "" "" "0000688193" "00023838" "30" "-3091" "0" "-3091" "0" "c.-3091C>T" "r.(?)" "p.(=)" "" "" "0000699779" "00023838" "90" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361*)" "" "" "0000699795" "00023838" "90" "1459" "0" "1459" "0" "c.1459T>C" "r.(?)" "p.(Ser487Pro)" "" "" "0000699805" "00023838" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" "" "" "0000699812" "00023838" "90" "1338" "0" "1346" "0" "c.1338_1346del" "r.(?)" "p.(Asn446_Tyr448del)" "" "" "0000699882" "00023838" "90" "967" "-1" "967" "-1" "c.967-1G>C" "r.spl" "p.?" "" "" "0000699883" "00023838" "90" "557" "-1" "1597" "1" "c.(556+1_557-1)_(1597+1_1598-1)del" "r.?" "p.?" "" "" "0000717524" "00023838" "30" "1431" "0" "1431" "0" "c.1431G>C" "r.(?)" "p.(Thr477=)" "" "" "0000717525" "00023838" "30" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000717526" "00023838" "50" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294Cys)" "" "" "0000717527" "00023838" "70" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Met283Val)" "" "" "0000717528" "00023838" "70" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "" "" "0000717529" "00023838" "90" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Gln268*)" "" "" "0000717530" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(?)" "p.(Ile223Val)" "" "" "0000717531" "00023838" "30" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "" "0000717532" "00023838" "50" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Asp105Asn)" "" "" "0000717533" "00023838" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Gly56Glu)" "" "" "0000717534" "00023838" "30" "36" "11" "36" "11" "c.36+11C>T" "r.(=)" "p.(=)" "" "" "0000717535" "00023838" "50" "-872" "0" "-872" "0" "c.-872C>T" "r.(?)" "p.(=)" "" "" "0000717536" "00023838" "50" "-3222" "0" "-3222" "0" "c.-3222C>G" "r.(?)" "p.(=)" "" "" "0000735617" "00023838" "90" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Ala508Val)" "" "" "0000737048" "00023838" "50" "1383" "0" "1383" "0" "c.1383del" "r.(?)" "p.(Gln463Argfs*4)" "" "" "0000737049" "00023838" "50" "1134" "0" "1134" "0" "c.1134del" "r.(?)" "p.(Glu378Aspfs*30)" "" "" "0000737050" "00023838" "50" "798" "0" "799" "0" "c.798_799del" "r.(?)" "p.(Gln267Alafs*61)" "" "" "0000737104" "00023838" "50" "1250" "0" "1251" "0" "c.1250_1251delinsTT" "r.(?)" "p.(Arg417Leu)" "" "" "0000737105" "00023838" "50" "1356" "0" "1356" "0" "c.1356del" "r.(?)" "p.(Tyr453Ilefs*14)" "" "" "0000740949" "00023838" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Asp540Asn)" "" "" "0000740950" "00023838" "50" "1613" "0" "1613" "0" "c.1613C>G" "r.(?)" "p.(Ser538Cys)" "" "" "0000740951" "00023838" "50" "1565" "0" "1565" "0" "c.1565C>T" "r.(?)" "p.(Pro522Leu)" "" "" "0000740952" "00023838" "50" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Ser511Phe)" "" "" "0000740953" "00023838" "50" "1514" "0" "1514" "0" "c.1514G>A" "r.(?)" "p.(Cys505Tyr)" "" "" "0000740954" "00023838" "50" "1511" "0" "1511" "0" "c.1511C>G" "r.(?)" "p.(Thr504Ser)" "" "" "0000740955" "00023838" "50" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Pro502Leu)" "" "" "0000740956" "00023838" "50" "1476" "2" "1476" "2" "c.1476+2C>T" "r.spl?" "p.?" "" "" "0000740957" "00023838" "50" "1468" "0" "1468" "0" "c.1468A>G" "r.(?)" "p.(Met490Val)" "" "" "0000740958" "00023838" "50" "1465" "0" "1465" "0" "c.1465G>T" "r.(?)" "p.(Ala489Ser)" "" "" "0000740959" "00023838" "50" "1438" "0" "1438" "0" "c.1438G>T" "r.(?)" "p.(Glu480*)" "" "" "0000740960" "00023838" "50" "1429" "0" "1429" "0" "c.1429A>G" "r.(?)" "p.(Thr477Ala)" "" "" "0000740961" "00023838" "50" "1418" "0" "1418" "0" "c.1418C>A" "r.(?)" "p.(Ala473Asp)" "" "" "0000740962" "00023838" "50" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Gly457Arg)" "" "" "0000740963" "00023838" "50" "1307" "0" "1307" "0" "c.1307T>C" "r.(?)" "p.(Leu436Pro)" "" "" "0000740964" "00023838" "50" "1282" "0" "1282" "0" "c.1282G>T" "r.(?)" "p.(Ala428Ser)" "" "" "0000740965" "00023838" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Ala428Thr)" "" "" "0000740966" "00023838" "50" "1250" "0" "1250" "0" "c.1250G>A" "r.(?)" "p.(Arg417His)" "" "" "0000740967" "00023838" "50" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Cys)" "" "" "0000740968" "00023838" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Gln414*)" "" "" "0000740969" "00023838" "50" "1210" "0" "1210" "0" "c.1210T>C" "r.(?)" "p.(Phe404Leu)" "" "" "0000740970" "00023838" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "" "" "0000740971" "00023838" "50" "1193" "0" "1193" "0" "c.1193T>C" "r.(?)" "p.(Leu398Pro)" "" "" "0000740972" "00023838" "50" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Gly381Arg)" "" "" "0000740973" "00023838" "50" "1137" "0" "1137" "0" "c.1137G>C" "r.(?)" "p.(Gln379His)" "" "" "0000740974" "00023838" "50" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Thr374Ile)" "" "" "0000740975" "00023838" "50" "1084" "0" "1084" "0" "c.1084G>T" "r.(?)" "p.(Ala362Ser)" "" "" "0000740976" "00023838" "50" "1078" "0" "1078" "0" "c.1078A>G" "r.(?)" "p.(Arg360Gly)" "" "" "0000740977" "00023838" "50" "1061" "0" "1061" "0" "c.1061G>T" "r.(?)" "p.(Gly354Val)" "" "" "0000740978" "00023838" "50" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ser346Leu)" "" "" "0000740979" "00023838" "50" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Cys339Tyr)" "" "" "0000740980" "00023838" "50" "994" "0" "994" "0" "c.994T>C" "r.(?)" "p.(Cys332Arg)" "" "" "0000740981" "00023838" "50" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Glu331Gly)" "" "" "0000740982" "00023838" "50" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Gln316*)" "" "" "0000740983" "00023838" "50" "944" "0" "944" "0" "c.944A>G" "r.(?)" "p.(Glu315Gly)" "" "" "0000740984" "00023838" "50" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Ala308Val)" "" "" "0000740985" "00023838" "50" "914" "0" "914" "0" "c.914T>A" "r.(?)" "p.(Leu305Gln)" "" "" "0000740986" "00023838" "50" "911" "0" "911" "0" "c.911G>C" "r.(?)" "p.(Ser304Thr)" "" "" "0000740987" "00023838" "50" "908" "0" "908" "0" "c.908A>T" "r.(?)" "p.(Glu303Val)" "" "" "0000740988" "00023838" "50" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Val302Met)" "" "" "0000740989" "00023838" "50" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Ala281Thr)" "" "" "0000740990" "00023838" "50" "836" "0" "836" "0" "c.836A>C" "r.(?)" "p.(Asn279Thr)" "" "" "0000740991" "00023838" "50" "833" "0" "833" "0" "c.833T>G" "r.(?)" "p.(Phe278Cys)" "" "" "0000740992" "00023838" "50" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "" "" "0000740993" "00023838" "50" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Pro272Ser)" "" "" "0000740994" "00023838" "50" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Val270Leu)" "" "" "0000740995" "00023838" "50" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Leu262Phe)" "" "" "0000740996" "00023838" "50" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Val258Ile)" "" "" "0000740997" "00023838" "50" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "" "" "0000740998" "00023838" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Met)" "" "" "0000740999" "00023838" "50" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241Gln)" "" "" "0000741000" "00023838" "50" "694" "0" "694" "0" "c.694A>T" "r.(?)" "p.(Thr232Ser)" "" "" "0000741001" "00023838" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "" "" "0000741002" "00023838" "50" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Cys)" "" "" "0000741003" "00023838" "50" "563" "0" "563" "0" "c.563A>T" "r.(?)" "p.(Glu188Val)" "" "" "0000741004" "00023838" "50" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187*)" "" "" "0000741005" "00023838" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185Gln)" "" "" "0000741006" "00023838" "50" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Cys)" "" "" "0000741007" "00023838" "50" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Ala175Val)" "" "" "0000741008" "00023838" "50" "521" "0" "521" "0" "c.521G>T" "r.(?)" "p.(Trp174Leu)" "" "" "0000741009" "00023838" "50" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Pro157Leu)" "" "" "0000741010" "00023838" "50" "467" "0" "467" "0" "c.467G>T" "r.(?)" "p.(Trp156Leu)" "" "" "0000741011" "00023838" "50" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Lys155Asn)" "" "" "0000741012" "00023838" "50" "458" "0" "458" "0" "c.458T>C" "r.(?)" "p.(Met153Thr)" "" "" "0000741013" "00023838" "50" "446" "0" "446" "0" "c.446A>C" "r.(?)" "p.(Tyr149Ser)" "" "" "0000741014" "00023838" "50" "443" "0" "443" "0" "c.443A>G" "r.(?)" "p.(Tyr148Cys)" "" "" "0000741015" "00023838" "50" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(Asn147Ser)" "" "" "0000741016" "00023838" "50" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Asn147Asp)" "" "" "0000741017" "00023838" "50" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "" "0000741018" "00023838" "50" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(Val135Ala)" "" "" "0000741019" "00023838" "50" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Val132Ala)" "" "" "0000741020" "00023838" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Val132Ile)" "" "" "0000741021" "00023838" "50" "389" "-1" "389" "-1" "c.389-1G>A" "r.spl?" "p.?" "" "" "0000741022" "00023838" "50" "389" "-2" "389" "-2" "c.389-2A>G" "r.spl?" "p.?" "" "" "0000741023" "00023838" "50" "382" "0" "382" "0" "c.382T>C" "r.(?)" "p.(Tyr128His)" "" "" "0000741024" "00023838" "50" "372" "0" "372" "0" "c.372C>A" "r.(?)" "p.(Asp124Glu)" "" "" "0000741025" "00023838" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Asp119Asn)" "" "" "0000741026" "00023838" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "" "0000741027" "00023838" "50" "337" "0" "337" "0" "c.337T>C" "r.(?)" "p.(Trp113Arg)" "" "" "0000741028" "00023838" "50" "238" "0" "238" "0" "c.238T>G" "r.(?)" "p.(Ser80Ala)" "" "" "0000741029" "00023838" "50" "226" "0" "226" "0" "c.226G>T" "r.(?)" "p.(Val76Leu)" "" "" "0000741030" "00023838" "50" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Glu74Gln)" "" "" "0000741031" "00023838" "50" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Ala59Thr)" "" "" "0000741032" "00023838" "50" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Met57Ile)" "" "" "0000741033" "00023838" "50" "157" "1" "157" "1" "c.157+1G>A" "r.spl?" "p.?" "" "" "0000741034" "00023838" "50" "96" "0" "96" "0" "c.96C>G" "r.(?)" "p.(Ser32Arg)" "" "" "0000741035" "00023838" "50" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Ala31Thr)" "" "" "0000741036" "00023838" "50" "42" "0" "42" "0" "c.42C>G" "r.(?)" "p.(Ile14Met)" "" "" "0000741037" "00023838" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "" "" "0000741038" "00023838" "50" "31" "0" "31" "0" "c.31C>G" "r.(?)" "p.(Leu11Val)" "" "" "0000741039" "00023838" "50" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Arg7His)" "" "" "0000741040" "00023838" "50" "16" "0" "16" "0" "c.16T>C" "r.(?)" "p.(Ser6Pro)" "" "" "0000741041" "00023838" "50" "14" "0" "14" "0" "c.14T>C" "r.(?)" "p.(Val5Ala)" "" "" "0000741042" "00023838" "50" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Val5Ile)" "" "" "0000741043" "00023838" "50" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Leu4Phe)" "" "" "0000741044" "00023838" "50" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Pro3Leu)" "" "" "0000743144" "00023838" "50" "1090" "0" "1091" "0" "c.1090_1091insGCCAG" "r.(?)" "p.(Lys365Glnfs*45)" "" "" "0000743145" "00023838" "50" "932" "0" "933" "0" "c.932_933del" "r.spl?" "p.?" "" "" "0000743146" "00023838" "50" "907" "0" "907" "0" "c.907del" "r.(?)" "p.(Glu303Argfs*16)" "" "" "0000743147" "00023838" "50" "747" "0" "747" "0" "c.747del" "r.(?)" "p.(Ile249Metfs*17)" "" "" "0000743148" "00023838" "50" "237" "0" "237" "0" "c.237del" "r.(?)" "p.(Ser80Leufs*11)" "" "" "0000743244" "00023838" "50" "608" "0" "620" "0" "c.608_620delinsATG" "r.(?)" "p.(Arg203Hisfs*34)" "" "" "0000743245" "00023838" "50" "1569" "0" "1570" "0" "c.1569_1570delinsAG" "r.(?)" "p.(Met524Val)" "" "" "0000743246" "00023838" "50" "171" "0" "172" "0" "c.171_172delinsTT" "r.(?)" "p.(Met57_Ile58delinsIlePhe)" "" "" "0000743247" "00023838" "50" "1502" "0" "1502" "0" "c.1502del" "r.(?)" "p.(Gln501Argfs*70)" "" "" "0000743248" "00023838" "50" "753" "0" "753" "0" "c.753del" "r.(?)" "p.(Asp252Ilefs*14)" "" "" "0000747941" "00023838" "50" "1630" "0" "1630" "0" "c.1630C>G" "r.(?)" "p.(Leu544Val)" "" "" "0000747942" "00023838" "50" "1599" "0" "1599" "0" "c.1599T>A" "r.(?)" "p.(Phe533Leu)" "" "" "0000747943" "00023838" "50" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Arg519Trp)" "" "" "0000747944" "00023838" "50" "1547" "0" "1547" "0" "c.1547C>G" "r.(?)" "p.(Pro516Arg)" "" "" "0000747945" "00023838" "50" "1544" "0" "1544" "0" "c.1544C>G" "r.(?)" "p.(Ser515Cys)" "" "" "0000747946" "00023838" "50" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Gly507Ser)" "" "" "0000747947" "00023838" "50" "1493" "0" "1493" "0" "c.1493A>G" "r.(?)" "p.(Gln498Arg)" "" "" "0000747948" "00023838" "50" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Val496Met)" "" "" "0000747949" "00023838" "50" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Ala484Thr)" "" "" "0000747950" "00023838" "50" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Thr477Met)" "" "" "0000747951" "00023838" "50" "1421" "0" "1421" "0" "c.1421G>A" "r.(?)" "p.(Arg474His)" "" "" "0000747952" "00023838" "50" "1418" "0" "1418" "0" "c.1418C>T" "r.(?)" "p.(Ala473Val)" "" "" "0000747953" "00023838" "50" "1318" "0" "1318" "0" "c.1318G>C" "r.(?)" "p.(Gly440Arg)" "" "" "0000747954" "00023838" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Pro432Leu)" "" "" "0000747955" "00023838" "50" "1292" "0" "1292" "0" "c.1292T>A" "r.(?)" "p.(Leu431His)" "" "" "0000747956" "00023838" "50" "1291" "0" "1291" "0" "c.1291C>G" "r.(?)" "p.(Leu431Val)" "" "" "0000747957" "00023838" "50" "1282" "0" "1282" "0" "c.1282G>C" "r.(?)" "p.(Ala428Pro)" "" "" "0000747958" "00023838" "50" "1277" "0" "1277" "0" "c.1277G>T" "r.(?)" "p.(Arg426Leu)" "" "" "0000747959" "00023838" "50" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Arg426His)" "" "" "0000747960" "00023838" "50" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Val407Met)" "" "" "0000747961" "00023838" "50" "1216" "0" "1216" "0" "c.1216T>C" "r.(?)" "p.(Ser406Pro)" "" "" "0000747962" "00023838" "50" "1172" "0" "1172" "0" "c.1172A>G" "r.(?)" "p.(Gln391Arg)" "" "" "0000747963" "00023838" "50" "1142" "0" "1142" "0" "c.1142G>C" "r.(?)" "p.(Gly381Ala)" "" "" "0000747964" "00023838" "50" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ser372Phe)" "" "" "0000747965" "00023838" "50" "1105" "0" "1105" "0" "c.1105G>C" "r.(?)" "p.(Glu369Gln)" "" "" "0000747966" "00023838" "50" "1099" "0" "1099" "0" "c.1099C>G" "r.(?)" "p.(Pro367Ala)" "" "" "0000747967" "00023838" "50" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Pro366Ser)" "" "" "0000747968" "00023838" "50" "1089" "0" "1089" "0" "c.1089C>A" "r.(?)" "p.(Ser363Arg)" "" "" "0000747969" "00023838" "50" "1073" "0" "1073" "0" "c.1073T>A" "r.(?)" "p.(Phe358Tyr)" "" "" "0000747970" "00023838" "50" "1055" "0" "1055" "0" "c.1055C>A" "r.(?)" "p.(Thr352Asn)" "" "" "0000747971" "00023838" "50" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Trp349Arg)" "" "" "0000747972" "00023838" "50" "1028" "0" "1028" "0" "c.1028T>C" "r.(?)" "p.(Leu343Pro)" "" "" "0000747973" "00023838" "50" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Gln338*)" "" "" "0000747974" "00023838" "50" "991" "0" "991" "0" "c.991G>C" "r.(?)" "p.(Glu331Gln)" "" "" "0000747975" "00023838" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Glu331Lys)" "" "" "0000747976" "00023838" "50" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Ser324Leu)" "" "" "0000747977" "00023838" "50" "950" "0" "950" "0" "c.950T>C" "r.(?)" "p.(Leu317Pro)" "" "" "0000747978" "00023838" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Val312Met)" "" "" "0000747979" "00023838" "50" "910" "0" "910" "0" "c.910A>G" "r.(?)" "p.(Ser304Gly)" "" "" "0000747980" "00023838" "50" "900" "0" "900" "0" "c.900C>A" "r.(?)" "p.(Cys300*)" "" "" "0000747981" "00023838" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Gln299*)" "" "" "0000747982" "00023838" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Pro295Leu)" "" "" "0000747983" "00023838" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Pro292Ser)" "" "" "0000747984" "00023838" "50" "847" "0" "847" "0" "c.847A>T" "r.(?)" "p.(Met283Leu)" "" "" "0000747985" "00023838" "50" "791" "0" "791" "0" "c.791G>T" "r.(?)" "p.(Gly264Val)" "" "" "0000747986" "00023838" "50" "788" "0" "788" "0" "c.788G>C" "r.(?)" "p.(Trp263Ser)" "" "" "0000747987" "00023838" "50" "783" "0" "783" "0" "c.783G>T" "r.(?)" "p.(Gln261His)" "" "" "0000747988" "00023838" "50" "783" "0" "783" "0" "c.783G>C" "r.(?)" "p.(Gln261His)" "" "" "0000747989" "00023838" "50" "769" "0" "769" "0" "c.769C>G" "r.(?)" "p.(Leu257Val)" "" "" "0000747990" "00023838" "50" "736" "0" "736" "0" "c.736G>T" "r.(?)" "p.(Val246Phe)" "" "" "0000747991" "00023838" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Ala240Val)" "" "" "0000747992" "00023838" "50" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "" "" "0000747993" "00023838" "50" "707" "0" "707" "0" "c.707A>T" "r.(?)" "p.(Asp236Val)" "" "" "0000747994" "00023838" "50" "691" "-1" "691" "-1" "c.691-1G>C" "r.spl?" "p.?" "" "" "0000747995" "00023838" "50" "676" "0" "676" "0" "c.676A>G" "r.(?)" "p.(Ile226Val)" "" "" "0000747996" "00023838" "50" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Ala222Val)" "" "" "0000747997" "00023838" "50" "649" "0" "649" "0" "c.649C>A" "r.(?)" "p.(Arg217Ser)" "" "" "0000747998" "00023838" "50" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Leu211Phe)" "" "" "0000747999" "00023838" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Gln210*)" "" "" "0000748000" "00023838" "50" "620" "0" "620" "0" "c.620C>T" "r.(?)" "p.(Thr207Ile)" "" "" "0000748001" "00023838" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Glu196Lys)" "" "" "0000748002" "00023838" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Trp)" "" "" "0000748003" "00023838" "50" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ala190Val)" "" "" "0000748004" "00023838" "50" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "" "" "0000748005" "00023838" "50" "541" "0" "541" "0" "c.541T>G" "r.(?)" "p.(Ser181Ala)" "" "" "0000748006" "00023838" "50" "505" "0" "505" "0" "c.505G>C" "r.(?)" "p.(Glu169Gln)" "" "" "0000748007" "00023838" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Asp161Asn)" "" "" "0000748008" "00023838" "50" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Gln160*)" "" "" "0000748009" "00023838" "50" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Thr158Ile)" "" "" "0000748010" "00023838" "50" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Thr158Ala)" "" "" "0000748011" "00023838" "50" "469" "0" "469" "0" "c.469C>A" "r.(?)" "p.(Pro157Thr)" "" "" "0000748012" "00023838" "50" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Met153Val)" "" "" "0000748013" "00023838" "50" "451" "0" "451" "0" "c.451G>T" "r.(?)" "p.(Gly151*)" "" "" "0000748014" "00023838" "50" "401" "0" "401" "0" "c.401A>T" "r.(?)" "p.(Glu134Val)" "" "" "0000748015" "00023838" "50" "401" "0" "401" "0" "c.401A>G" "r.(?)" "p.(Glu134Gly)" "" "" "0000748016" "00023838" "50" "397" "0" "397" "0" "c.397T>C" "r.(?)" "p.(Ser133Pro)" "" "" "0000748017" "00023838" "50" "391" "0" "391" "0" "c.391T>G" "r.(?)" "p.(Trp131Gly)" "" "" "0000748018" "00023838" "50" "391" "0" "391" "0" "c.391T>C" "r.(?)" "p.(Trp131Arg)" "" "" "0000748019" "00023838" "50" "352" "0" "352" "0" "c.352G>T" "r.(?)" "p.(Glu118*)" "" "" "0000748020" "00023838" "50" "343" "0" "343" "0" "c.343A>G" "r.(?)" "p.(Arg115Gly)" "" "" "0000748021" "00023838" "50" "341" "0" "341" "0" "c.341G>T" "r.(?)" "p.(Arg114Ile)" "" "" "0000748022" "00023838" "50" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Pro112Ser)" "" "" "0000748023" "00023838" "50" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Arg109Gln)" "" "" "0000748024" "00023838" "50" "322" "0" "322" "0" "c.322A>G" "r.(?)" "p.(Lys108Glu)" "" "" "0000748025" "00023838" "50" "307" "0" "307" "0" "c.307T>C" "r.(?)" "p.(Trp103Arg)" "" "" "0000748026" "00023838" "50" "298" "0" "298" "0" "c.298C>A" "r.(?)" "p.(Leu100Met)" "" "" "0000748027" "00023838" "50" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97*)" "" "" "0000748028" "00023838" "50" "284" "0" "284" "0" "c.284C>G" "r.(?)" "p.(Ala95Gly)" "" "" "0000748029" "00023838" "50" "275" "0" "275" "0" "c.275A>T" "r.(?)" "p.(Glu92Val)" "" "" "0000748030" "00023838" "50" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Ile)" "" "" "0000748031" "00023838" "50" "244" "0" "244" "0" "c.244T>C" "r.(?)" "p.(Ser82Pro)" "" "" "0000748032" "00023838" "50" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Gln78*)" "" "" "0000748033" "00023838" "50" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "" "" "0000748034" "00023838" "50" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Gln71Arg)" "" "" "0000748035" "00023838" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Arg)" "" "" "0000748036" "00023838" "50" "182" "0" "182" "0" "c.182G>T" "r.(?)" "p.(Cys61Phe)" "" "" "0000748037" "00023838" "50" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Ala59Val)" "" "" "0000748038" "00023838" "50" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Asp52Asn)" "" "" "0000748039" "00023838" "50" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Ser44Asn)" "" "" "0000748040" "00023838" "50" "129" "0" "129" "0" "c.129C>G" "r.(?)" "p.(Asn43Lys)" "" "" "0000748041" "00023838" "50" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(Asn42Ser)" "" "" "0000748042" "00023838" "50" "109" "0" "109" "0" "c.109C>G" "r.(?)" "p.(Gln37Glu)" "" "" "0000748043" "00023838" "50" "98" "0" "98" "0" "c.98A>G" "r.(?)" "p.(Gln33Arg)" "" "" "0000748044" "00023838" "50" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Ala21Pro)" "" "" "0000748045" "00023838" "50" "44" "0" "44" "0" "c.44T>C" "r.(?)" "p.(Met15Thr)" "" "" "0000748046" "00023838" "50" "40" "0" "40" "0" "c.40A>C" "r.(?)" "p.(Ile14Leu)" "" "" "0000748047" "00023838" "50" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Ala13Val)" "" "" "0000748048" "00023838" "50" "38" "0" "38" "0" "c.38C>A" "r.(?)" "p.(Ala13Asp)" "" "" "0000748049" "00023838" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "" "" "0000748050" "00023838" "50" "36" "1" "36" "1" "c.36+1G>A" "r.spl?" "p.?" "" "" "0000748051" "00023838" "50" "32" "0" "32" "0" "c.32T>G" "r.(?)" "p.(Leu11Arg)" "" "" "0000750176" "00023838" "50" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(?)" "p.(Glu410Glyfs*43)" "" "" "0000750177" "00023838" "50" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385Profs*23)" "" "" "0000750215" "00023838" "50" "1013" "0" "1014" "0" "c.1013_1014delinsGC" "r.(?)" "p.(Gln338Arg)" "" "" "0000753385" "00023838" "50" "1622" "0" "1622" "0" "c.1622C>T" "r.(?)" "p.(Ala541Val)" "" "" "0000753386" "00023838" "50" "1615" "0" "1615" "0" "c.1615A>G" "r.(?)" "p.(Thr539Ala)" "" "" "0000753387" "00023838" "50" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534Gln)" "" "" "0000753388" "00023838" "50" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Trp)" "" "" "0000753389" "00023838" "50" "1588" "0" "1588" "0" "c.1588G>T" "r.(?)" "p.(Asp530Tyr)" "" "" "0000753390" "00023838" "50" "1588" "0" "1588" "0" "c.1588G>C" "r.(?)" "p.(Asp530His)" "" "" "0000753391" "00023838" "50" "1585" "0" "1585" "0" "c.1585C>A" "r.(?)" "p.(Leu529Met)" "" "" "0000753392" "00023838" "50" "1568" "0" "1568" "0" "c.1568G>A" "r.(?)" "p.(Arg523His)" "" "" "0000753393" "00023838" "50" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523Cys)" "" "" "0000753394" "00023838" "50" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "" "" "0000753395" "00023838" "50" "1547" "0" "1547" "0" "c.1547C>T" "r.(?)" "p.(Pro516Leu)" "" "" "0000753396" "00023838" "50" "1537" "0" "1537" "0" "c.1537G>T" "r.(?)" "p.(Val513Leu)" "" "" "0000753397" "00023838" "50" "1494" "0" "1494" "0" "c.1494G>C" "r.(?)" "p.(Gln498His)" "" "" "0000753398" "00023838" "50" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Arg495His)" "" "" "0000753399" "00023838" "50" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Cys)" "" "" "0000753400" "00023838" "50" "1477" "0" "1477" "0" "c.1477G>T" "r.(?)" "p.(Val493Phe)" "" "" "0000753401" "00023838" "50" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Ala489Thr)" "" "" "0000753402" "00023838" "50" "1448" "0" "1448" "0" "c.1448C>T" "r.(?)" "p.(Thr483Ile)" "" "" "0000753403" "00023838" "50" "1435" "0" "1435" "0" "c.1435G>T" "r.(?)" "p.(Glu479*)" "" "" "0000753404" "00023838" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Glu479Lys)" "" "" "0000753405" "00023838" "50" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Arg474Cys)" "" "" "0000753406" "00023838" "50" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Ala473Thr)" "" "" "0000753407" "00023838" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Gly472Ser)" "" "" "0000753408" "00023838" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Val469Ile)" "" "" "0000753409" "00023838" "50" "1393" "0" "1393" "0" "c.1393C>G" "r.(?)" "p.(Pro465Ala)" "" "" "0000753410" "00023838" "50" "1360" "0" "1360" "0" "c.1360C>G" "r.(?)" "p.(Gln454Glu)" "" "" "0000753411" "00023838" "50" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(His444Arg)" "" "" "0000753412" "00023838" "50" "1316" "0" "1316" "0" "c.1316T>C" "r.(?)" "p.(Leu439Pro)" "" "" "0000753413" "00023838" "50" "1310" "0" "1310" "0" "c.1310G>A" "r.(?)" "p.(Arg437Gln)" "" "" "0000753414" "00023838" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Arg437Trp)" "" "" "0000753415" "00023838" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Met)" "" "" "0000753416" "00023838" "50" "1289" "0" "1289" "0" "c.1289C>T" "r.(?)" "p.(Pro430Leu)" "" "" "0000753417" "00023838" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Gln422*)" "" "" "0000753418" "00023838" "50" "1258" "0" "1258" "0" "c.1258C>A" "r.(?)" "p.(Leu420Met)" "" "" "0000753419" "00023838" "50" "1256" "0" "1256" "0" "c.1256C>A" "r.(?)" "p.(Ala419Asp)" "" "" "0000753420" "00023838" "50" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Ala419Thr)" "" "" "0000753421" "00023838" "50" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "" "0000753422" "00023838" "50" "1187" "-2" "1187" "-2" "c.1187-2A>G" "r.spl?" "p.?" "" "" "0000753423" "00023838" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Gln391*)" "" "" "0000753424" "00023838" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Ala373Val)" "" "" "0000753425" "00023838" "50" "1103" "0" "1103" "0" "c.1103G>C" "r.(?)" "p.(Arg368Thr)" "" "" "0000753426" "00023838" "50" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Arg364His)" "" "" "0000753427" "00023838" "50" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Pro359Leu)" "" "" "0000753428" "00023838" "50" "1075" "0" "1075" "0" "c.1075C>A" "r.(?)" "p.(Pro359Thr)" "" "" "0000753429" "00023838" "50" "1072" "0" "1072" "0" "c.1072T>C" "r.(?)" "p.(Phe358Leu)" "" "" "0000753430" "00023838" "50" "1055" "0" "1055" "0" "c.1055C>T" "r.(?)" "p.(Thr352Ile)" "" "" "0000753431" "00023838" "50" "1037" "0" "1037" "0" "c.1037C>G" "r.(?)" "p.(Ser346Trp)" "" "" "0000753432" "00023838" "50" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(Asn335Ser)" "" "" "0000753433" "00023838" "50" "1000" "0" "1000" "0" "c.1000C>G" "r.(?)" "p.(Pro334Ala)" "" "" "0000753434" "00023838" "50" "998" "0" "998" "0" "c.998C>G" "r.(?)" "p.(Ala333Gly)" "" "" "0000753435" "00023838" "50" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Val329Met)" "" "" "0000753436" "00023838" "50" "961" "0" "961" "0" "c.961G>C" "r.(?)" "p.(Gly321Arg)" "" "" "0000753437" "00023838" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Arg)" "" "" "0000753438" "00023838" "50" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Gln314*)" "" "" "0000753439" "00023838" "50" "934" "-2" "934" "-2" "c.934-2A>G" "r.spl?" "p.?" "" "" "0000753440" "00023838" "50" "933" "1" "933" "1" "c.933+1G>A" "r.spl?" "p.?" "" "" "0000753441" "00023838" "50" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Arg311Lys)" "" "" "0000753442" "00023838" "50" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309His)" "" "" "0000753443" "00023838" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000753444" "00023838" "50" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "" "" "0000753445" "00023838" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Trp)" "" "" "0000753446" "00023838" "50" "918" "0" "918" "0" "c.918C>G" "r.(?)" "p.(Cys306Trp)" "" "" "0000753447" "00023838" "50" "912" "0" "912" "0" "c.912C>G" "r.(?)" "p.(Ser304Arg)" "" "" "0000753448" "00023838" "50" "904" "0" "904" "0" "c.904G>T" "r.(?)" "p.(Val302Leu)" "" "" "0000753449" "00023838" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Pro301Ser)" "" "" "0000753450" "00023838" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Ser298Asn)" "" "" "0000753451" "00023838" "50" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294His)" "" "" "0000753452" "00023838" "50" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294Cys)" "" "" "0000753453" "00023838" "50" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.(Gly286Glu)" "" "" "0000753454" "00023838" "50" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Met283Val)" "" "" "0000753455" "00023838" "50" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Ala281Val)" "" "" "0000753456" "00023838" "50" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "" "" "0000753457" "00023838" "50" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Gln267*)" "" "" "0000753458" "00023838" "50" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Ala266Gly)" "" "" "0000753459" "00023838" "50" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Thr256Ile)" "" "" "0000753460" "00023838" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247*)" "" "" "0000753461" "00023838" "50" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Val246Ile)" "" "" "0000753462" "00023838" "50" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "" "0000753463" "00023838" "50" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Cys)" "" "" "0000753464" "00023838" "50" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Val242Leu)" "" "" "0000753465" "00023838" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "" "0000753466" "00023838" "50" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.(Ala240Thr)" "" "" "0000753467" "00023838" "50" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Val239Ile)" "" "" "0000753468" "00023838" "50" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Met)" "" "" "0000753469" "00023838" "50" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Gly229Asp)" "" "" "0000753470" "00023838" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Gly229Ser)" "" "" "0000753471" "00023838" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Ala227Thr)" "" "" "0000753472" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(?)" "p.(Ile223Val)" "" "" "0000753473" "00023838" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217His)" "" "" "0000753474" "00023838" "50" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "" "0000753475" "00023838" "50" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Val215Met)" "" "" "0000753476" "00023838" "50" "608" "0" "608" "0" "c.608G>C" "r.(?)" "p.(Arg203Pro)" "" "" "0000753477" "00023838" "50" "588" "0" "588" "0" "c.588G>C" "r.(?)" "p.(Glu196Asp)" "" "" "0000753478" "00023838" "50" "586" "0" "586" "0" "c.586G>T" "r.(?)" "p.(Glu196*)" "" "" "0000753479" "00023838" "50" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" "" "" "0000753480" "00023838" "50" "564" "0" "564" "0" "c.564G>C" "r.(?)" "p.(Glu188Asp)" "" "" "0000753481" "00023838" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Trp)" "" "" "0000753482" "00023838" "50" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184Gln)" "" "" "0000753483" "00023838" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Gly183Asp)" "" "" "0000753484" "00023838" "50" "545" "0" "545" "0" "c.545G>T" "r.(?)" "p.(Arg182Leu)" "" "" "0000753485" "00023838" "50" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "" "" "0000753486" "00023838" "50" "541" "0" "541" "0" "c.541T>C" "r.(?)" "p.(Ser181Pro)" "" "" "0000753487" "00023838" "50" "523" "0" "523" "0" "c.523G>T" "r.(?)" "p.(Ala175Ser)" "" "" "0000753488" "00023838" "50" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Val170Met)" "" "" "0000753489" "00023838" "50" "507" "0" "507" "0" "c.507G>C" "r.(?)" "p.(Glu169Asp)" "" "" "0000753490" "00023838" "50" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Ala165Thr)" "" "" "0000753491" "00023838" "50" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "" "0000753492" "00023838" "50" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Trp156*)" "" "" "0000753493" "00023838" "50" "461" "0" "461" "0" "c.461A>G" "r.(?)" "p.(Gln154Arg)" "" "" "0000753494" "00023838" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Trp152*)" "" "" "0000753495" "00023838" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Gly151Arg)" "" "" "0000753496" "00023838" "50" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Thr150Ala)" "" "" "0000753497" "00023838" "50" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Arg126Gln)" "" "" "0000753498" "00023838" "50" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Trp)" "" "" "0000753499" "00023838" "50" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "" "" "0000753500" "00023838" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "" "0000753501" "00023838" "50" "312" "0" "312" "0" "c.312C>A" "r.(?)" "p.(Tyr104*)" "" "" "0000753502" "00023838" "50" "297" "0" "297" "0" "c.297C>G" "r.(?)" "p.(Ser99Arg)" "" "" "0000753503" "00023838" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97Gln)" "" "" "0000753504" "00023838" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Glu92Lys)" "" "" "0000753505" "00023838" "50" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Tyr84Cys)" "" "" "0000753506" "00023838" "50" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(Glu60Gly)" "" "" "0000753507" "00023838" "50" "176" "0" "176" "0" "c.176C>A" "r.(?)" "p.(Ala59Asp)" "" "" "0000753508" "00023838" "50" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Gly56Val)" "" "" "0000753509" "00023838" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Gly56Glu)" "" "" "0000753510" "00023838" "50" "98" "0" "98" "0" "c.98A>C" "r.(?)" "p.(Gln33Pro)" "" "" "0000753511" "00023838" "50" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ser24Gly)" "" "" "0000753512" "00023838" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19Gln)" "" "" "0000753513" "00023838" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19*)" "" "" "0000753514" "00023838" "50" "29" "0" "29" "0" "c.29G>C" "r.(?)" "p.(Arg10Pro)" "" "" "0000753515" "00023838" "50" "8" "0" "8" "0" "c.8C>G" "r.(?)" "p.(Pro3Arg)" "" "" "0000753516" "00023838" "50" "2" "0" "2" "0" "c.2T>C" "r.?" "p.?" "" "" "0000754950" "00023838" "50" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(?)" "p.(Glu410Glyfs*43)" "" "" "0000754951" "00023838" "50" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ala385Profs*23)" "" "" "0000754989" "00023838" "50" "1013" "0" "1014" "0" "c.1013_1014delinsGC" "r.(?)" "p.(Gln338Arg)" "" "" "0000758159" "00023838" "50" "1622" "0" "1622" "0" "c.1622C>T" "r.(?)" "p.(Ala541Val)" "" "" "0000758160" "00023838" "50" "1615" "0" "1615" "0" "c.1615A>G" "r.(?)" "p.(Thr539Ala)" "" "" "0000758161" "00023838" "50" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534Gln)" "" "" "0000758162" "00023838" "50" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Trp)" "" "" "0000758163" "00023838" "50" "1588" "0" "1588" "0" "c.1588G>T" "r.(?)" "p.(Asp530Tyr)" "" "" "0000758164" "00023838" "50" "1588" "0" "1588" "0" "c.1588G>C" "r.(?)" "p.(Asp530His)" "" "" "0000758165" "00023838" "50" "1585" "0" "1585" "0" "c.1585C>A" "r.(?)" "p.(Leu529Met)" "" "" "0000758166" "00023838" "50" "1568" "0" "1568" "0" "c.1568G>A" "r.(?)" "p.(Arg523His)" "" "" "0000758167" "00023838" "50" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523Cys)" "" "" "0000758168" "00023838" "50" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "" "" "0000758169" "00023838" "50" "1547" "0" "1547" "0" "c.1547C>T" "r.(?)" "p.(Pro516Leu)" "" "" "0000758170" "00023838" "50" "1537" "0" "1537" "0" "c.1537G>T" "r.(?)" "p.(Val513Leu)" "" "" "0000758171" "00023838" "50" "1494" "0" "1494" "0" "c.1494G>C" "r.(?)" "p.(Gln498His)" "" "" "0000758172" "00023838" "50" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Arg495His)" "" "" "0000758173" "00023838" "50" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Cys)" "" "" "0000758174" "00023838" "50" "1477" "0" "1477" "0" "c.1477G>T" "r.(?)" "p.(Val493Phe)" "" "" "0000758175" "00023838" "50" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Ala489Thr)" "" "" "0000758176" "00023838" "50" "1448" "0" "1448" "0" "c.1448C>T" "r.(?)" "p.(Thr483Ile)" "" "" "0000758177" "00023838" "50" "1435" "0" "1435" "0" "c.1435G>T" "r.(?)" "p.(Glu479*)" "" "" "0000758178" "00023838" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Glu479Lys)" "" "" "0000758179" "00023838" "50" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Arg474Cys)" "" "" "0000758180" "00023838" "50" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Ala473Thr)" "" "" "0000758181" "00023838" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Gly472Ser)" "" "" "0000758182" "00023838" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Val469Ile)" "" "" "0000758183" "00023838" "50" "1393" "0" "1393" "0" "c.1393C>G" "r.(?)" "p.(Pro465Ala)" "" "" "0000758184" "00023838" "50" "1360" "0" "1360" "0" "c.1360C>G" "r.(?)" "p.(Gln454Glu)" "" "" "0000758185" "00023838" "50" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(His444Arg)" "" "" "0000758186" "00023838" "50" "1316" "0" "1316" "0" "c.1316T>C" "r.(?)" "p.(Leu439Pro)" "" "" "0000758187" "00023838" "50" "1310" "0" "1310" "0" "c.1310G>A" "r.(?)" "p.(Arg437Gln)" "" "" "0000758188" "00023838" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Arg437Trp)" "" "" "0000758189" "00023838" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Met)" "" "" "0000758190" "00023838" "50" "1289" "0" "1289" "0" "c.1289C>T" "r.(?)" "p.(Pro430Leu)" "" "" "0000758191" "00023838" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Gln422*)" "" "" "0000758192" "00023838" "50" "1258" "0" "1258" "0" "c.1258C>A" "r.(?)" "p.(Leu420Met)" "" "" "0000758193" "00023838" "50" "1256" "0" "1256" "0" "c.1256C>A" "r.(?)" "p.(Ala419Asp)" "" "" "0000758194" "00023838" "50" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Ala419Thr)" "" "" "0000758195" "00023838" "50" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "" "0000758196" "00023838" "50" "1187" "-2" "1187" "-2" "c.1187-2A>G" "r.spl?" "p.?" "" "" "0000758197" "00023838" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Gln391*)" "" "" "0000758198" "00023838" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Ala373Val)" "" "" "0000758199" "00023838" "50" "1103" "0" "1103" "0" "c.1103G>C" "r.(?)" "p.(Arg368Thr)" "" "" "0000758200" "00023838" "50" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Arg364His)" "" "" "0000758201" "00023838" "50" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Pro359Leu)" "" "" "0000758202" "00023838" "50" "1075" "0" "1075" "0" "c.1075C>A" "r.(?)" "p.(Pro359Thr)" "" "" "0000758203" "00023838" "50" "1072" "0" "1072" "0" "c.1072T>C" "r.(?)" "p.(Phe358Leu)" "" "" "0000758204" "00023838" "50" "1055" "0" "1055" "0" "c.1055C>T" "r.(?)" "p.(Thr352Ile)" "" "" "0000758205" "00023838" "50" "1037" "0" "1037" "0" "c.1037C>G" "r.(?)" "p.(Ser346Trp)" "" "" "0000758206" "00023838" "50" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(Asn335Ser)" "" "" "0000758207" "00023838" "50" "1000" "0" "1000" "0" "c.1000C>G" "r.(?)" "p.(Pro334Ala)" "" "" "0000758208" "00023838" "50" "998" "0" "998" "0" "c.998C>G" "r.(?)" "p.(Ala333Gly)" "" "" "0000758209" "00023838" "50" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Val329Met)" "" "" "0000758210" "00023838" "50" "961" "0" "961" "0" "c.961G>C" "r.(?)" "p.(Gly321Arg)" "" "" "0000758211" "00023838" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Gly321Arg)" "" "" "0000758212" "00023838" "50" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Gln314*)" "" "" "0000758213" "00023838" "50" "934" "-2" "934" "-2" "c.934-2A>G" "r.spl?" "p.?" "" "" "0000758214" "00023838" "50" "933" "1" "933" "1" "c.933+1G>A" "r.spl?" "p.?" "" "" "0000758215" "00023838" "50" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Arg311Lys)" "" "" "0000758216" "00023838" "50" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309His)" "" "" "0000758217" "00023838" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000758218" "00023838" "50" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "" "" "0000758219" "00023838" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Trp)" "" "" "0000758220" "00023838" "50" "918" "0" "918" "0" "c.918C>G" "r.(?)" "p.(Cys306Trp)" "" "" "0000758221" "00023838" "50" "912" "0" "912" "0" "c.912C>G" "r.(?)" "p.(Ser304Arg)" "" "" "0000758222" "00023838" "50" "904" "0" "904" "0" "c.904G>T" "r.(?)" "p.(Val302Leu)" "" "" "0000758223" "00023838" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Pro301Ser)" "" "" "0000758224" "00023838" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Ser298Asn)" "" "" "0000758225" "00023838" "50" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294His)" "" "" "0000758226" "00023838" "50" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294Cys)" "" "" "0000758227" "00023838" "50" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.(Gly286Glu)" "" "" "0000758228" "00023838" "50" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Met283Val)" "" "" "0000758229" "00023838" "50" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Ala281Val)" "" "" "0000758230" "00023838" "50" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "" "" "0000758231" "00023838" "50" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Gln267*)" "" "" "0000758232" "00023838" "50" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Ala266Gly)" "" "" "0000758233" "00023838" "50" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Thr256Ile)" "" "" "0000758234" "00023838" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247*)" "" "" "0000758235" "00023838" "50" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Val246Ile)" "" "" "0000758236" "00023838" "50" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "" "0000758237" "00023838" "50" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Cys)" "" "" "0000758238" "00023838" "50" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Val242Leu)" "" "" "0000758239" "00023838" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "" "0000758240" "00023838" "50" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.(Ala240Thr)" "" "" "0000758241" "00023838" "50" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Val239Ile)" "" "" "0000758242" "00023838" "50" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Met)" "" "" "0000758243" "00023838" "50" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Gly229Asp)" "" "" "0000758244" "00023838" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Gly229Ser)" "" "" "0000758245" "00023838" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Ala227Thr)" "" "" "0000758246" "00023838" "50" "667" "0" "667" "0" "c.667A>G" "r.(?)" "p.(Ile223Val)" "" "" "0000758247" "00023838" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217His)" "" "" "0000758248" "00023838" "50" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "" "0000758249" "00023838" "50" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Val215Met)" "" "" "0000758250" "00023838" "50" "608" "0" "608" "0" "c.608G>C" "r.(?)" "p.(Arg203Pro)" "" "" "0000758251" "00023838" "50" "588" "0" "588" "0" "c.588G>C" "r.(?)" "p.(Glu196Asp)" "" "" "0000758252" "00023838" "50" "586" "0" "586" "0" "c.586G>T" "r.(?)" "p.(Glu196*)" "" "" "0000758253" "00023838" "50" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" "" "" "0000758254" "00023838" "50" "564" "0" "564" "0" "c.564G>C" "r.(?)" "p.(Glu188Asp)" "" "" "0000758255" "00023838" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Trp)" "" "" "0000758256" "00023838" "50" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184Gln)" "" "" "0000758257" "00023838" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Gly183Asp)" "" "" "0000758258" "00023838" "50" "545" "0" "545" "0" "c.545G>T" "r.(?)" "p.(Arg182Leu)" "" "" "0000758259" "00023838" "50" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "" "" "0000758260" "00023838" "50" "541" "0" "541" "0" "c.541T>C" "r.(?)" "p.(Ser181Pro)" "" "" "0000758261" "00023838" "50" "523" "0" "523" "0" "c.523G>T" "r.(?)" "p.(Ala175Ser)" "" "" "0000758262" "00023838" "50" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Val170Met)" "" "" "0000758263" "00023838" "50" "507" "0" "507" "0" "c.507G>C" "r.(?)" "p.(Glu169Asp)" "" "" "0000758264" "00023838" "50" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Ala165Thr)" "" "" "0000758265" "00023838" "50" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "" "0000758266" "00023838" "50" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Trp156*)" "" "" "0000758267" "00023838" "50" "461" "0" "461" "0" "c.461A>G" "r.(?)" "p.(Gln154Arg)" "" "" "0000758268" "00023838" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Trp152*)" "" "" "0000758269" "00023838" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Gly151Arg)" "" "" "0000758270" "00023838" "50" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Thr150Ala)" "" "" "0000758271" "00023838" "50" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Arg126Gln)" "" "" "0000758272" "00023838" "50" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Trp)" "" "" "0000758273" "00023838" "50" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "" "" "0000758274" "00023838" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "" "0000758275" "00023838" "50" "312" "0" "312" "0" "c.312C>A" "r.(?)" "p.(Tyr104*)" "" "" "0000758276" "00023838" "50" "297" "0" "297" "0" "c.297C>G" "r.(?)" "p.(Ser99Arg)" "" "" "0000758277" "00023838" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97Gln)" "" "" "0000758278" "00023838" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Glu92Lys)" "" "" "0000758279" "00023838" "50" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Tyr84Cys)" "" "" "0000758280" "00023838" "50" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(Glu60Gly)" "" "" "0000758281" "00023838" "50" "176" "0" "176" "0" "c.176C>A" "r.(?)" "p.(Ala59Asp)" "" "" "0000758282" "00023838" "50" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Gly56Val)" "" "" "0000758283" "00023838" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Gly56Glu)" "" "" "0000758284" "00023838" "50" "98" "0" "98" "0" "c.98A>C" "r.(?)" "p.(Gln33Pro)" "" "" "0000758285" "00023838" "50" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ser24Gly)" "" "" "0000758286" "00023838" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19Gln)" "" "" "0000758287" "00023838" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19*)" "" "" "0000758288" "00023838" "50" "29" "0" "29" "0" "c.29G>C" "r.(?)" "p.(Arg10Pro)" "" "" "0000758289" "00023838" "50" "8" "0" "8" "0" "c.8C>G" "r.(?)" "p.(Pro3Arg)" "" "" "0000758290" "00023838" "50" "2" "0" "2" "0" "c.2T>C" "r.?" "p.?" "" "" "0000765957" "00023838" "70" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Ala227Pro)" "" "" "0000765958" "00023838" "70" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Arg12His)" "" "" "0000765959" "00023838" "70" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Gly59Arg)" "" "" "0000765960" "00023838" "70" "585" "0" "585" "0" "c.585A>G" "r.(?)" "p.(Ile195Met)" "" "" "0000789662" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "13" "" "0000789666" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "13" "" "0000799391" "00023838" "10" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(Thr483=)" "" "" "0000799392" "00023838" "50" "1282" "0" "1282" "0" "c.1282G>C" "r.(?)" "p.(Ala428Pro)" "" "" "0000799393" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000799394" "00023838" "50" "1055" "0" "1055" "0" "c.1055C>T" "r.(?)" "p.(Thr352Ile)" "" "" "0000799395" "00023838" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Thr232=)" "" "" "0000799396" "00023838" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Ala227Thr)" "" "" "0000799397" "00023838" "10" "348" "11" "348" "11" "c.348+11G>A" "r.(=)" "p.(=)" "" "" "0000799398" "00023838" "30" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Gly56Val)" "" "" "0000799399" "00023838" "30" "157" "75" "157" "75" "c.157+75G>A" "r.(=)" "p.(=)" "" "" "0000799400" "00023838" "30" "-1858" "0" "-1858" "0" "c.-1858C>T" "r.(?)" "p.(=)" "" "" "0000845021" "00023838" "70" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Ter)" "" "" "0000845022" "00023838" "90" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Ter)" "" "" "0000845095" "00023838" "90" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Ala373Val)" "" "" "0000845096" "00023838" "90" "934" "-2" "934" "-2" "c.934-2A>G" "r.spl" "p.(Cys297=)" "" "" "0000848751" "00023838" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "" "0000848752" "00023838" "70" "-2129" "0" "-2129" "0" "c.-2129C>T" "r.(?)" "p.(=)" "" "" "0000848753" "00023838" "50" "-3230" "0" "-3230" "0" "c.-3230G>A" "r.(?)" "p.(=)" "" "" "0000848754" "00023838" "50" "-3254" "0" "-3254" "0" "c.-3254T>A" "r.(?)" "p.(=)" "" "" "0000857511" "00023838" "30" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534Gln)" "" "" "0000857512" "00023838" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(?)" "p.(Glu410GlyfsTer43)" "" "" "0000857513" "00023838" "50" "1000" "0" "1000" "0" "c.1000C>G" "r.(?)" "p.(Pro334Ala)" "" "" "0000857514" "00023838" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "" "0000869109" "00023838" "90" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Tyr180Cys)" "" "" "0000876519" "00023838" "90" "1438" "0" "1438" "0" "c.1438G>T" "r.(?)" "p.(Glu480Ter)" "" "" "0000876541" "00023838" "90" "1438" "0" "1438" "0" "c.1438G>T" "r.(?)" "p.(Glu480Ter)" "" "" "0000883470" "00023838" "30" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Met)" "" "" "0000883471" "00023838" "50" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "" "" "0000883472" "00023838" "50" "1258" "0" "1258" "0" "c.1258C>A" "r.(?)" "p.(Leu420Met)" "" "" "0000883473" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000883474" "00023838" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Gln391Ter)" "" "" "0000883476" "00023838" "30" "933" "10" "933" "10" "c.933+10C>T" "r.(=)" "p.(=)" "" "" "0000883477" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Pro295Leu)" "" "" "0000883478" "00023838" "90" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "" "0000911080" "00023838" "30" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(Thr483=)" "" "" "0000911081" "00023838" "30" "1258" "0" "1258" "0" "c.1258C>A" "r.(?)" "p.(Leu420Met)" "" "" "0000911082" "00023838" "30" "813" "0" "813" "0" "c.813C>T" "r.(?)" "p.(Asp271=)" "" "" "0000911083" "00023838" "90" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "" "0000916949" "00023838" "90" "504" "19" "504" "31" "c.504+19_504+31del" "r.spl" "p.?" "" "" "0000917057" "00023838" "90" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Glu206Gly)" "" "" "0000918606" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000918701" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000920381" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.?" "p.(Gly396Asp)" "" "" "0000920385" "00023838" "90" "736" "0" "736" "0" "c.736G>T" "r.(?)" "p.(Val246Phe)" "" "" "0000920399" "00023838" "90" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "" "0000920402" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000923193" "00023838" "30" "1568" "0" "1568" "0" "c.1568G>A" "r.(?)" "p.(Arg523His)" "" "" "0000923194" "00023838" "90" "1435" "0" "1435" "0" "c.1435G>T" "r.(?)" "p.(Glu479*)" "" "" "0000923195" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(?)" "p.(Glu480del)" "" "" "0000923196" "00023838" "90" "1280" "0" "1289" "0" "c.1280_1289del" "r.(?)" "p.(Trp427Serfs*22)" "" "" "0000923197" "00023838" "90" "1101" "0" "1101" "0" "c.1101del" "r.(?)" "p.(Arg368Glyfs*40)" "" "" "0000923198" "00023838" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Pro295Leu)" "" "" "0000923199" "00023838" "70" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asn238Ser)" "" "" "0000928180" "00023838" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Ser298Asn)" "" "" "0000947253" "00023838" "30" "1585" "0" "1585" "0" "c.1585C>A" "r.(?)" "p.(Leu529Met)" "" "" "0000947254" "00023838" "90" "1437" "0" "1439" "0" "c.1437_1439del" "r.(?)" "p.(Glu480del)" "" "" "0000947255" "00023838" "50" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Cys)" "" "" "0000947256" "00023838" "70" "1038" "0" "1038" "0" "c.1038G>A" "r.(?)" "p.(Ser346=)" "" "" "0000947257" "00023838" "90" "933" "3" "933" "3" "c.933+3A>C" "r.spl?" "p.?" "" "" "0000947258" "00023838" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Ser298Asn)" "" "" "0000947259" "00023838" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Ter)" "" "" "0000947260" "00023838" "30" "576" "17" "576" "17" "c.576+17A>G" "r.(=)" "p.(=)" "" "" "0000952103" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000952104" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000952105" "00023838" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Asp)" "" "" "0000952106" "00023838" "90" "158" "-1" "158" "-1" "c.158-1G>T" "r.spl" "p.?" "" "" "0000954911" "00023838" "70" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "" "0000961066" "00023838" "10" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534Gln)" "" "" "0000961067" "00023838" "30" "690" "21" "690" "21" "c.690+21C>A" "r.(=)" "p.(=)" "" "" "0000961068" "00023838" "50" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Asp105Asn)" "" "" "0000961069" "00023838" "30" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(=)" "" "" "0000961070" "00023838" "30" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Glu74=)" "" "" "0000961071" "00023838" "30" "36" "327" "36" "327" "c.36+327G>A" "r.(=)" "p.(=)" "" "" "0000973998" "00023838" "50" "2933" "0" "2933" "0" "c.*1283C>T" "r.(=)" "p.(=)" "" "" "0000973999" "00023838" "50" "2916" "0" "2916" "0" "c.*1266G>A" "r.(=)" "p.(=)" "" "" "0000974000" "00023838" "10" "1431" "0" "1431" "0" "c.1431G>C" "r.(?)" "p.(Thr477=)" "" "" "0000974001" "00023838" "50" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Arg474Cys)" "" "" "0000974002" "00023838" "30" "1187" "-27" "1187" "-27" "c.1187-27C>T" "r.(=)" "p.(=)" "" "" "0000974003" "00023838" "90" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Ala287Profs*32)" "" "" "0000974004" "00023838" "10" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Asp)" "" "" "0000974005" "00023838" "10" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Pro18Leu)" "" "" "0000974006" "00023838" "10" "36" "11" "36" "11" "c.36+11C>T" "r.(=)" "p.(=)" "" "" "0000974007" "00023838" "30" "-1858" "0" "-1858" "0" "c.-1858C>T" "r.(?)" "p.(=)" "" "" "0000991320" "00023838" "50" "-3254" "0" "-3254" "0" "c.-3254T>A" "r.(?)" "p.(=)" "" "" "0001013324" "00023838" "30" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Asp)" "" "" "0001013325" "00023838" "30" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Pro18Leu)" "" "" "0001016673" "00023838" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "" "0001016674" "00023838" "90" "1518" "2" "1518" "2" "c.1518+2del" "r.spl" "p.?" "" "" "0001016680" "00023838" "90" "1435" "0" "1435" "0" "c.1435G>T" "r.(?)" "p.(Glu479Ter)" "" "" "0001016695" "00023838" "90" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Trp156Ter)" "" "" "0001024181" "00023838" "50" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "" "" "0001024182" "00023838" "90" "421" "0" "421" "0" "c.421del" "r.(?)" "p.(Gln141Argfs*5)" "" "" "0001032089" "00023838" "50" "1476" "2" "1476" "2" "c.1476+2C>T" "r.spl?" "p.?" "" "" "0001032090" "00023838" "50" "1367" "0" "1367" "0" "c.1367A>T" "r.(?)" "p.(Tyr456Phe)" "" "" "0001032091" "00023838" "50" "1199" "0" "1199" "0" "c.1199G>T" "r.(?)" "p.(Gly400Val)" "" "" "0001032092" "00023838" "70" "998" "-13" "998" "-13" "c.998-13T>G" "r.(=)" "p.(=)" "" "" "0001032093" "00023838" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Thr150=)" "" "" "0001032094" "00023838" "30" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Asp)" "" "" "0001032095" "00023838" "10" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Pro18Leu)" "" "" "0001032096" "00023838" "30" "-2589" "0" "-2589" "0" "c.-2589A>G" "r.(?)" "p.(=)" "" "" "0001045689" "00023838" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2917 "{{screeningid}}" "{{variantid}}" "0000002932" "0000021309" "0000002932" "0000021310" "0000003206" "0000021754" "0000036365" "0000063490" "0000036366" "0000063491" "0000036367" "0000063492" "0000036368" "0000063493" "0000036369" "0000063494" "0000036370" "0000063495" "0000036371" "0000063496" "0000047989" "0000076770" "0000047989" "0000076771" "0000107059" "0000172802" "0000134095" "0000223772" "0000134095" "0000223773" "0000134096" "0000223774" "0000134096" "0000223775" "0000134097" "0000223776" "0000134097" "0000223777" "0000156456" "0000359406" "0000156456" "0000359450" "0000156459" "0000359393" "0000156459" "0000359459" "0000156461" "0000359379" "0000156461" "0000359421" "0000156461" "0000359470" "0000156463" "0000359398" "0000156463" "0000359439" "0000156463" "0000359464" "0000156465" "0000359380" "0000156465" "0000359422" "0000156465" "0000359471" "0000156473" "0000359389" 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