Full data view for gene MUTYH


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

590 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 7 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C - - MUTYH_000012 - PubMed: Puijenbroek 2007 - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Puijenbroek 2007 - F - (Netherlands) - - - - - 1 James Whitworth
+/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>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) - MUTYH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>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) - MUTYH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>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) - MUTYH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>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) - MUTYH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>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) - MUTYH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>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) - MUTYH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - DUPLICATE – to be removed - rs34612342 Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C - - MUTYH_000012 - - - - Unknown - - - - - DNA PCR, SEQ - screen data 2018-03-27 cancer, colon, polyposis - - - M - - - - - no pedigree - 1 Esther Sarasola
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Görgens 2006 - rs34612342 Unknown - 0,9% of 116 controls); (0/50 HNPCC patients (42/50 <50 years)) - - - DNA SEQ - - ? - PubMed: Görgens 2006 - - - Germany white - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Eliason 2005 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 4/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients - - United States - - - - - 5 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Eliason 2005 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 7/219 APC neg FAP patients; 2/306 MLH1 and MSH2 neg HNPCC patients - - United States - - - - - 9 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Eliason 2005 - rs34612342 Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Eliason 2005 - rs34612342 Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Eliason 2005 - rs34612342 Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Eliason 2005 - rs34612342 Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Eliason 2005 - rs34612342 Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Eliason 2005 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 4/219 APC neg FAP patients; 3/306 MLH1 and MSH2 neg HNPCC patients - - United States - - - - - 7 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Dolwani 2007 - rs34612342 Unknown - - - - - DNA PCRdig, SEQ - - CRC - PubMed: Dolwani 2007 Zero among 120 CRC cases and 100 controls - - India Indian subcontinent - - - - - Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys); Y165C - MUTYH_000012 8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported PubMed: Croitoru 2004 - rs34612342 Germline - 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 - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_15 PubMed: Croitoru 2004 - M - Canada - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys); Y165C - MUTYH_000012 8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported PubMed: Croitoru 2004 - rs34612342 Germline - 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 - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_16 PubMed: Croitoru 2004 - M - Canada - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys); Y165C - MUTYH_000012 Only coding region variants reported PubMed: Croitoru 2004 - rs34612342 Germline - 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 - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_7 PubMed: Croitoru 2004 - F - Canada - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys); Y165C - MUTYH_000012 8/1238 (0.65%) patients heterozygous Y165C, 4/1255 (0,32%) controls; only coding region variants reported PubMed: Croitoru 2004 - rs34612342 Germline - 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 - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_17 PubMed: Croitoru 2004 - F - Canada - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys); Y165C - MUTYH_000012 O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported PubMed: Croitoru 2007; PubMed: O Shea 2008 - rs34612342 Germline - 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 - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_10 PubMed: Croitoru 2007, PubMed: O Shea 2008 - F - Canada - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys); Y165C - MUTYH_000012 O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported PubMed: Croitoru 2007; PubMed: O Shea 2008 - rs34612342 Germline - 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 - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_11 PubMed: Croitoru 2007, PubMed: O Shea 2008 - F - Canada - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients, 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Aceto 2005 - rs34612342 Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - - - DNA DHPLC, SEQ - - cancer, colon - PubMed: Aceto 2005 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Aceto 2005 - rs34612342 Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - - - DNA DHPLC, SEQ - - cancer, colon - PubMed: Aceto 2005 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Aceto 2005 - rs34612342 Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - - - DNA DHPLC, SEQ - - cancer, colon - PubMed: Aceto 2005 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 2/31 (6%) APC neg AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Enholm 2003 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Enholm 2003 1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls M - Finland - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Enholm 2003 - rs34612342 Unknown - 3/1003 (0,3%) patients with >3 polyps, 0/424 Finnish controls, Prev. rep. by Sieber - - - DNA SEQ - - cancer, colon - PubMed: Enholm 2003 - M - Finland - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Enholm 2003 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Enholm 2003 3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls F - Finland - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Enholm 2003 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Enholm 2003 3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls M - Finland - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 2/31 (6%) APC neg. AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; , 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Gismondi 2004 - rs34612342 Unknown - 1/38 (3%) APC neg FAP patients; 4/31 (13%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - 1/152 UK patients with 3-100 polyps - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 - M - United Kingdom (Great Britain) - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - 2/107 UK classic FAP patients APC negative - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 - M - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - - - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 3/107 UK patients with classic FAP; APC mutation negative F - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - 2/107 UK classic FAP patients APC negative - - - DNA SSCA, SEQ - - cancer, colon - PubMed: Sieber 2003, OMIM:var0001 - F - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - - - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 1/107 UK classic FAP patients APC negative M - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - - - - - DNA SSCA, SEQ - - cancer, colon - PubMed: Sieber 2003, OMIM:var0001 3/107 UK patients with classic FAP; APC mutation negative M - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - 1/152 UK patients with 3-100 polyps - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 - F - United Kingdom (Great Britain) - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - - - - - DNA SSCA, SEQ - - cancer, colon - PubMed: Sieber 2003, OMIM:var0001 3/107 UK patients with classic FAP; APC mutation negative F - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - 2/107 UK classic FAP patients APC negative - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 - M - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - 2/107 UK classic FAP patients APC negative - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 - M - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - 1/152 UK patients with 3-100 polyps - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 - F - United Kingdom (Great Britain) - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - 2/152 UK patients with 3-100 polyps - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 - M - United Kingdom (Great Britain) - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003; OMIM:var0001 - rs34612342 Unknown - 2/152 UK patients with 3-100 polyps - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0001 - F - United Kingdom (Great Britain) - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Sieber 2003 - rs34612342 Unknown - - - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003 1/107 UK classic FAP patients APC negative M - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Bouguen 2007 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Bouguen 2007 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Bouguen 2007 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Bouguen 2007 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Bouguen 2007 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Bouguen 2007 - rs34612342 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients F - France white - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Shin 2007 - rs34612342 Unknown - 1/250 (0.4%) patients - - - DNA SEQ - - cancer, prostate - PubMed: Shin 2007 - M - Canada - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Alhopuro 2005 - rs34612342 Unknown - 1/24 individuals (22 families). FAP: 19, AFAP: 3; 0/85 controls - - - DNA SEQ - - cancer, colon - PubMed: Alhopuro 2005 - - - Finland - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Kambara 2004 - rs34612342 Unknown - - - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Kambara 2004 familial CRC patient; does not meet Bethesda criteria. M - Australia - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Kambara 2004 - rs34612342 Unknown - - - - - DNA PCRdig, SEQ - - ? - PubMed: Kambara 2004 healthy blood donor - - Australia - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Unknown - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Vandrovcová 2004 - rs34612342 Unknown - - - - - DNA PCRdig, SEQ - - cancer, colon - PubMed: Vandrovcová 2004 1 biallelic among 21 APC neg patients (probands) M - Czech Republic - - - - - 1 Astrid Out
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2006, PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Nielsen 2006, PubMed: Nielsen 2009a; PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2006, PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Nielsen 2006, PubMed: Nielsen 2009a; PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a; PubMed: Nielsen 2009b Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a; PubMed: Nielsen 2009b Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, rectal - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #1 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 7 c.536A>G r.(536a>g) p.(Tyr179Cys) - Parent #2 - pathogenic g.45798475T>C g.45332803T>C 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs34612342 Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
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