Full data view for gene MUTYH


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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 13 c.1187G>A VUS r.(spl?) p.(Gly396Asp) - Unknown g.45797228C>T g.45331556C>T - - MUTYH_000075 - - - - Germline - - - 0 - DNA SEQ-NG-I - - - - - - - - - - - 0 - - 1 Christopher Watson
+/. 13 c.1187G>A pathogenic r.(?) p.(Gly396Asp) - Unknown g.45797228C>T g.45331556C>T - - MUTYH_000075 - PubMed: Puijenbroek 2007 - - Germline - - - 0 - DNA SEQ - - MINAS - PubMed: Puijenbroek 2007 - F - (Netherlands) - - 0 - - 1 James Whitworth
+/. 12i c.1187G>A pathogenic r.spl? p.(?) - Unknown g.45797228C>T g.45331556C>T - - MUTYH_000075 - - - - Germline/De novo (untested) - - - 0 - DNA MCA, MLPA, PCR, SEQ Blood - FAP-1 - - - M - Russia - - 0 - - 1 Grigorij Yanus
+/. - c.1187G>A pathogenic r.(?) p.(Gly396Asp) - Unknown g.45797228C>T g.45331556C>T - - MUTYH_000075 - - - - Germline/De novo (untested) - - - 0 - DNA MCA, MLPA-ms, PCR, SEQ Blood - FAP-1 - - familial, brother – colorectal cancer (82 years), mother – colorectal cancer (80 years) M - Russia - - 0 - - 3 Grigorij Yanus
+/. - c.1187G>A pathogenic r.(?) p.(Gly396Asp) - Unknown g.45797228C>T - MUTYH(NM_001128425.1):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1187G>A pathogenic r.(?) p.(Gly396Asp) - Unknown g.45797228C>T - MUTYH(NM_001128425.1):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1187G>A pathogenic r.(?) p.(Gly396Asp) - Unknown g.45797228C>T - MUTYH(NM_001128425.1):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1187G>A pathogenic r.(?) p.(Gly396Asp) - Unknown g.45797228C>T - MUTYH(NM_001128425.1):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1187G>A pathogenic r.(?) p.(Gly396Asp) - Unknown g.45797228C>T - MUTYH(NM_001128425.1):c.1187G>A (p.G396D) - MUTYH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A (Gly382Asp) - MUTYH_000075 - DUPLICATE – to be removed - rs36053993 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.1187G>A pathogenic r.(?) p.(Gly396Asp) - Unknown g.45797228C>T - - - MUTYH_000075 - - - - Germline - - - 0 - DNA SEQ - screen data 2017-01-31 cancer, gastric, CRC - - 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 - 1 InSiGHT - John-Paul Plazzer
+/. - c.1187G>A pathogenic r.(?) p.(Gly396Asp) - Both (homozygous) g.45797228C>T - - - MUTYH_000075 - PubMed: Cohen et al. 2016 - - Germline - - - 0 - DNA ? - - cancer, rectal - PubMed: Cohen 2016 - - - - - - 0 - - 1 InSiGHT - John-Paul Plazzer
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Görgens 2006 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Görgens 2006 Rectal cancer age 48; no family history; 1/50 patients (0,9% of controls) - - Germany white - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Eliason 2005 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 7/219 APC neg FAP patients; 2/306 MLH1 and MSH2 neg HNPCC patients - - United States - - 0 - - 9 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Eliason 2005 - rs36053993 Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - 0 - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Eliason 2005 - rs36053993 Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - 0 - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Eliason 2005 - rs36053993 Unknown - 1/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients - 0 - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - 0 - - 2 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Eliason 2005 - rs36053993 Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - 0 - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Eliason 2005 - rs36053993 Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - 0 - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Eliason 2005 - rs36053993 Unknown - 2/219 APC neg FAP patients; 6/306 MLH1 and MSH2 neg HNPCC patients - 0 - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - 0 - - 8 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Dolwani 2007 - rs36053993 Unknown - - - 0 - DNA PCRdig, SEQ - - CRC - PubMed: Dolwani 2007 Zero among 120 CRC cases and 100 controls - - India Indian subcontinent - 0 - - 0 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp; G382D - MUTYH_000075 Only coding region variants reported PubMed: Croitoru 2004 - rs36053993 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 - 0 - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_7 PubMed: Croitoru 2004 - F - Canada - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp; G382D - MUTYH_000075 O Shea et al., 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported PubMed: Croitoru 2007; PubMed: O Shea 2008 - rs36053993 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 - 0 - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_12 PubMed: Croitoru 2007, PubMed: O Shea 2008 - F - Canada - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Gismondi 2004 - rs36053993 Unknown - 1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - 0 - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Gismondi 2004 - rs36053993 Unknown - 2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - 0 - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Gismondi 2004 - rs36053993 Unknown - 2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - 0 - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Aceto 2005 - rs36053993 Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - 0 - DNA DHPLC, SEQ - - cancer, colon - PubMed: Aceto 2005 - - - Italy - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Gismondi 2004 - rs36053993 Unknown - 1/38 (3%) APC neg FAP patients; 1/31 (3%) APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - 0 - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Enholm 2003 - rs36053993 Unknown - - - 0 - DNA SEQ - - CRC - PubMed: Enholm 2003 4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls F - Finland - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Enholm 2003 - rs36053993 Unknown - 3/1003 (0,3%) patients with >3 polyps, 0/424 Finnish controls, Prev. rep. by Sieber - 0 - DNA SEQ - - cancer, colon - PubMed: Enholm 2003 - M - Finland - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Enholm 2003 - rs36053993 Unknown - - - 0 - DNA SEQ - - CRC - PubMed: Enholm 2003 4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls F - Finland - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Enholm 2003 - rs36053993 Unknown - - - 0 - DNA SEQ - - CRC - PubMed: Enholm 2003 4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls F - Finland - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Enholm 2003 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Enholm 2003 1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls F - Finland - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Enholm 2003 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Enholm 2003 3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls F - Finland - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Enholm 2003 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Enholm 2003 4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls F - Finland - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Enholm 2003 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Enholm 2003 3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls M - Finland - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Gismondi 2004 - rs36053993 Unknown - 2/38 (5%) APC neg FAP patients; 0/31 APC neg. AFAP patients; 0/141 population based polyposis patients; 0/52 controls - 0 - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Gismondi 2004 - rs36053993 Unknown - 1/31 (3%) APC neg. AFAP patients; 0/38 APC neg FAP patients; 0/141 population based polyposis patients; 0/52 controls - 0 - DNA PCRdig, SEQ - - cancer, colon - PubMed: Gismondi 2004 - - - Italy - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - 2/152 UK patients with 3-100 polyps - 0 - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0002 - M - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - 2/152 UK patients with 3-100 polyps - 0 - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0002 - F - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0002 3/107 UK patients with classic FAP; APC mutation negative F - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0002 1/107 UK classic FAP patients APC negative M - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA SSCA, SEQ - - cancer, colon - PubMed: Sieber 2003, OMIM:var0002 3/107 UK patients with classic FAP; APC mutation negative M - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - 1/152 UK patients with 3-100 polyps - 0 - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0002 - F - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA SSCA, SEQ - - cancer, colon - PubMed: Sieber 2003, OMIM:var0002 3/107 UK patients with classic FAP; APC mutation negative F - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0002 1/107 UK classic FAP patients APC negative M - Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - 1/152 UK patients with 3-100 polyps - 0 - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0002 - M - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - 2/152 UK patients with 3-100 polyps - 0 - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0002 - M - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Sieber 2003; OMIM:var0002 - rs36053993 Unknown - 2/152 UK patients with 3-100 polyps - 0 - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003, OMIM:var0002 - F - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Bouguen 2007 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Bouguen 2007 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Bouguen 2007 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Bouguen 2007 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients F - France white - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Bouguen 2007 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Bouguen 2007 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Bouguen 2007 - rs36053993 Unknown - - - 0 - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients F - France white - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Kambara 2004 - rs36053993 Unknown - - - 0 - DNA PCRdig, SEQ - - CRC - PubMed: Kambara 2004 2 Sporadic CRC patients - - Australia - - 0 - - 2 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Kambara 2004 - rs36053993 Unknown - - - 0 - DNA PCRdig, SEQ - - cancer, colon - PubMed: Kambara 2004 - M - Australia - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Kambara 2004 - rs36053993 Unknown - - - 0 - DNA PCRdig, SEQ - - cancer, colon - PubMed: Kambara 2004 - M - Australia - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Vandrovcová 2004 - rs36053993 Unknown - - - 0 - DNA PCRdig, SEQ - - cancer, colon - PubMed: Vandrovcová 2004 1 biallelic among 21 APC neg patients (probands) M - Czech Republic - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Lipton 2003 - rs36053993 Unknown - - - 0 - DNA SEQ - - ? - PubMed: Lipton 2003 - - - (Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain)) - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - 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) - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - 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) - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - 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) - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - 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) - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - 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 - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - 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) - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - DNA 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) - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - 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) - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - DNA 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 M - Netherlands - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - 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) - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys; Among 170 APC negative Dutch FAP patients M - Netherlands - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys; Among 170 APC negative Dutch FAP patients M - Netherlands - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 170 APC negative Dutch FAP patients F - Netherlands - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 170 APC negative Dutch FAP patients F - Netherlands - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a - rs36053993 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a Among 170 APC negative Dutch FAP patients F - Netherlands - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - rs36053993 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a Among 170 APC negative Dutch FAP patients F - Netherlands - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A (Gly382Asp) - MUTYH_000075 - PubMed: Aretz 2006; PubMed: Vogt 2009 - rs36053993 Germline - 31/658 - 0 - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - 0 - - 1 Stefan Aretz
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005 - rs36053993 Germline - - - 0 - DNA SEQ leukocyte - CRC - PubMed: Nielsen 2005 Among 170 APC negative Dutch FAP patients M - - - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Nielsen 2005 - rs36053993 Germline - - - 0 - DNA SEQ leukocyte - ? - PubMed: Nielsen 2005 Among 170 APC negative Dutch FAP patients M - - - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Shinmura 2001 - rs36053993 Unknown - - - 0 - DNA SEQ, SSCA - - cancer PMID11295288_5 PubMed: Shinmura 2001 Among 43 US individuals with various types of carcinoma - - United States - - 0 - - 2 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Cheadle and Sampson, 2003 - rs36053993 Unknown - - - 0 - DNA SEQ - - ? PMID12915454_1 PubMed: Cheadle and Sampson, 2003 - - - - - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Fleischmann 2004 - rs36053993 Unknown - - - 0 - DNA SEQ - - ? PMID14991577_10 PubMed: Fleischmann 2004 - - - - - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #1 g.45797228C>T - 1145G>A (Gly382asp) - MUTYH_000075 - PubMed: Wang 2004 - rs36053993 Unknown - - - 0 - DNA MCA, SEQ leukocyte genotyping, test known variant (group) ? PMID15236166_33 PubMed: Wang 2004 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 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A (Gly382Asp) - MUTYH_000075 transcript detected with RT-PCR; Only c.1187G>A allele detectable; Compound heterozygous c.[1187-2A>G]+[1187G>A] PubMed: Farrington 2005 - rs36053993 Germline - 51/4487 (1.1%) - 0 - DNA, RNA RT-PCR, SEQ leukocyte allelic discrimination, screen MUTYH gene (index) CRC 15931596_patient_c1187_c1187-2 PubMed: Farrington 2005 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 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A (Gly382Asp) - MUTYH_000075 - PubMed: Vogt 2009;PubMed: Nielsen 2009b;PubMed: Nielsen 2009b - rs36053993 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009, PubMed: Nielsen 2009b, PubMed: Nielsen 2009b - M - Netherlands - - 0 - - 1 Carli Tops
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 no aberrant splicing could be detected PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - ? PMID11818965_II:1 PubMed: Al-Tassan 2002, OMIM:var0002 Family N, Sib II:1 - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA PCRdig - - ? PMID11818965_II:2 PubMed: Al-Tassan 2002, OMIM:var0002 Family N, Sib II:2 - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Parent #2 g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA PCRdig - - ? PMID11818965_II:3 PubMed: Al-Tassan 2002, OMIM:var0002 Family N, Sib II:3 - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA PCRdig - - ? PMID11818965_II:6 PubMed: Al-Tassan 2002, OMIM:var0002 Family N, Sib II:6 - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA PCRdig - - ? PMID11818965_II:7 PubMed: Al-Tassan 2002, OMIM:var0002 Family N, Sib II:7 - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA PCRdig - - ? PMID11818965_III:1 PubMed: Al-Tassan 2002, OMIM:var0002 Family N, Child III:1 of II:1 - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA PCRdig - - ? PMID11818965_III:2 PubMed: Al-Tassan 2002, OMIM:var0002 Family N, Child III:2 of II:2 - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA PCRdig - - ? PMID11818965_III:3 PubMed: Al-Tassan 2002, OMIM:var0002 Family N, Child III:3 of II:2 - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA PCRdig - - ? PMID11818965_III:5 PubMed: Al-Tassan 2002, OMIM:var0002 Family N, Child III:5 of II:2 - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Al-Tassan 2002; OMIM:var0002 - rs36053993 Unknown - - - 0 - DNA DHPLC - - ? PMID11818965_control1 PubMed: Al-Tassan 2002, OMIM:var0002 1/100 controls - - United Kingdom (Great Britain) - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Akyerli 2003 - rs36053993 Unknown - 0/185 patients with childhood leukemia (AML n=45) (ALL n=140); 0/124 controls without malignancy - 0 - DNA PCRdig, SEQ - - ? PMID12920580_2 PubMed: Akyerli 2003 - - - Turkey - - 0 - - 0 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Akyerli 2003 - rs36053993 Unknown - 0/124 controls without malignancy, 0/185 patients with childhood leukemia (AML n=45) (ALL n=140) - 0 - DNA PCRdig, SEQ - - ? PMID12920580_3 PubMed: Akyerli 2003 - - - Turkey - - 0 - - 0 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Olschwang 2007 - rs36053993 Unknown - - - 0 - DNA SEQ - - CRC - PubMed: Olschwang 2007 Among 406 patients with >5 polyps and/or CRC in France - - - - - 0 - - 1 Astrid Out
+/. 13 c.1187G>A pathogenic r.(1187g>a) p.(Gly396Asp) - Unknown g.45797228C>T - 1145G>A Gly382Asp - MUTYH_000075 - PubMed: Olschwang 2007 - rs36053993 Unknown - - - 0 - DNA SEQ - - CRC - PubMed: Olschwang 2007 Among 406 patients with >5 polyps and/or CRC in France - - - - - 0 - - 1 Astrid Out
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