Unique variants in gene MUTYH

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

306 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Consequence_Predicted     

ID     

InSiGHT Class     

Protein/Domain     

Splicing/transcript expression     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/? 12 _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 625/2520=24.8%, 151/290=52.1%, 637/2494=25.5%, 78/158=49.4% 1 more item Unknown - Astrid Out
?/? 6 _1 c.-216-2721C>T r.(=) p.(=) - - - - - g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157, NT_032977.9:g.15780781G>A Schafmayer 2007 MUTYH_000288 1 more item 1 more item Germline (inherited) - Astrid Out
?/? 1 _1 c.-216-290G>A r.(=) p.(=) - - - - - g.45806432C>T - - MUTYH_000244 - - Germline (inherited) - Astrid Out
?/? 2 _1 c.-216-64G>A r.(=) p.(=) - - - - - g.45806206C>T -280G>A Tao 2008 MUTYH_000163 - Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. Unknown - Astrid Out
?/? 1 _1 c.-177C>T r.(=) p.(=) - - - - - g.45806103G>A - Clinical Genetics, LUMC, Leiden, NL MUTYH_000001 - - Germline (inherited) - Carli Tops
?/? 1 _1 c.-165C>T r.(=) p.(=) - - - - - g.45806091G>A - Peterlongo 2006 MUTYH_000083 1/160 alleles Frequency in 62 probands New York, 13 Milan, 5 Madrid Unknown - Astrid Out
?/? 16 _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A ex1+8C>T Clinical Genetics, LUMC, Leiden, NL, Molecular Medicine, AUH, Skejby, Aarhus, DK, Peterlongo 2006, 3 more items MUTYH_000002 6/230, 4/160 alleles, 0.02, 102/3186 (3.2%), 98/2522 (3.9%), 1 more item Frequency in 62 probands New York, 13 Milan, 5 Madrid Germline (inherited), Unknown - Carli Tops, Mette Gaustadnes, Astrid Out
?/? 1 _1 c.-83G>A r.(=) p.(=) - - - - - g.45806009C>T - - MUTYH_000229 - - Germline (inherited) - Astrid Out
?/? 1 _1 c.-56G>C r.(=) p.(=) - - - - - g.45805982C>G - Gómez-Fernández 2009 MUTYH_000011 - new in this paper; not in 500 control chromosomes Unknown - Astrid Out
?/? 1 13 c.?C>A r.? p.? - - - - - g.? 1249C>A (Leu406Met) - MUTYH_000000 - - Unknown - Elke Holinski-Feder
-/? 2 12 c.?G>A r.(?) p.(?) PolyPhen PSIC 1.6 possibly damaging - - - - g.? 1082G>A (Arg350His) MGZ, MŸnchen, DE MUTYH_000000 - - Unknown - Elke Holinski-Feder
-/? 1 1 c.8C>T r.(=) p.(Pro3Leu) - - - - - g.45805919G>A - MGZ, MŸnchen, DE MUTYH_000178 - - Unknown - Elke Holinski-Feder
?/? 1 1 c.20G>A r.(20g>a) p.(Arg7His) - - - - - g.45805907C>T 20G>A (Arg7His) Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK MUTYH_000256 - - Unknown - Rikke Veggerby Grønlund
+/?, ?/? 2 1i c.36+1G>A r.spl p.0? - - - - - g.45805890C>T - Redeker (unpublished); AMC, Amsterdam, NL, Niessen et al. 2006 MUTYH_000224 - MSH2: c.1729T>C, 1 more item Unknown, Germline (inherited) - Bert Redeker, Astrid Out
?/?, -?/? 4 1i c.36+11C>T r.(=) p.(=) - - - - - g.45805880G>A IVS1+11C>T Tao 2008, Clinical Genetics, LUMC, Leiden, NL, Zhou 2005 MUTYH_000003 2,1% of n=84 www.fruitfly.org: no splicing effect Unknown, Germline (inherited) - Astrid Out, Carli Tops
?/? 1 1i c.36+54G>A r.(=) p.(=) - - - - - g.45805837C>T - - MUTYH_000230 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+75C>G r.(=) p.(=) - - - - - g.45805816G>C - Clinical Genetics, LUMC, Leiden, NL MUTYH_000020 - - Unknown - Carli Tops
?/? 1 1i c.36+267C>T r.(=) p.(=) - - - - - g.45805624G>A - Goto 2008 MUTYH_000200 1/46 alleles 1 more item Unknown - Astrid Out
?/? 13 1i c.36+325G>C r.spl, r.? p.? - - - - - g.45805566C>G IVS1+5G>C; 156+5G>C, 35+325G>C, 1 more item Yamaguchi 2002, Plotz 2012, MGZ, MŸnchen, DE, Kambara 2004, Barnetson 2007, 2 more items MUTYH_000004 1/54 controls, 0.01 (?); n=225 The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA, 1 more item Unknown, Germline (inherited) - Astrid Out, Guido Plotz, Elke Holinski-Feder
?/? 1 1i c.36+478C>G r.(=) p.(=) - - - - - g.45805413G>C - - MUTYH_000231 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+721C>T r.(=) p.(=) - - - - - g.45805170G>A - - MUTYH_000232 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+830G>A r.(=) p.(=) - - - - - g.45805061C>T - - MUTYH_000233 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+845G>C r.(=) p.(=) - - - - - g.45805046C>G - - MUTYH_000234 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+847T>C r.(=) p.(=) - - - - - g.45805044A>G - - MUTYH_000235 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+852A>G r.(=) p.(=) - - - - - g.45805039T>C - - MUTYH_000236 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+991_36+992insA r.(=) p.(=) - - - - - g.45804899_45804900insT - - MUTYH_000237 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+1464_36+1465del r.(=) p.(=) - - - - - g.45804426_45804427del - - MUTYH_000291 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+1466_36+1467insAC r.(=) p.(=) - - - - - g.45804424_45804425insGT - - MUTYH_000292 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+1467_36+1468insAC r.(=) p.(=) - - - - - g.45804423_45804424insGT - - MUTYH_000293 - - Germline (inherited) - Astrid Out
?/? 2 1i c.36+1474dup r.(=) p.(=) - - - - - g.45804417dup - - MUTYH_000290 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+1563dup r.(=) p.(=) - - - - - g.45804328dup - - MUTYH_000294 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+1802G>A r.(=) p.(=) - - - - - g.45804089C>T - - MUTYH_000295 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+1841G>A r.(=) p.(=) - - - - - g.45804050C>T IVS1+1520 A/G (beta transcript); NM_001048174.1: -7+1521G>A (beta transcript) Yamaguchi 2002 MUTYH_000164 - - Unknown - Astrid Out
?/? 1 1i c.36+1945C>T r.(=) p.(=) - - - - - g.45803946G>A - - MUTYH_000297 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+1946dup r.(=) p.(=) - - - - - g.45803945dup - - MUTYH_000296 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+2351C>T r.(=) p.(=) - - - - - g.45803540G>A - - MUTYH_000298 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+2478T>C r.(=) p.(=) - - - - - g.45803413A>G - - MUTYH_000299 - - Germline (inherited) - Astrid Out
?/? 1 1i c.36+2774G>A r.(=) p.(=) - - - - - g.45803117C>T - - MUTYH_000300 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-2653C>A r.(=) p.(=) - - - - - g.45802836G>T - - MUTYH_000301 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-2487T>G r.(=) p.(=) - - - - - g.45802670A>C - - MUTYH_000245 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-2139T>C r.(=) p.(=) - - - - - g.45802322A>G - - MUTYH_000302 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-2002T>C r.(=) p.(=) - - - - - g.45802185A>G - - MUTYH_000303 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-1960G>C r.(=) p.(=) - - - - - g.45802143C>G IVS1+3427 C/G (beta transcript); NM_001048174.1: -6-1960G>C (beta transcript) Yamaguchi 2002 MUTYH_000165 - - Unknown - Astrid Out
?/? 1 1i c.37-1798G>A r.(=) p.(=) - - - - - g.45801981C>T - - MUTYH_000304 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-1747T>C r.(=) p.(=) - - - - - g.45801930A>G - - MUTYH_000305 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-1192T>G r.(=) p.(=) - - - - - g.45801375A>C - - MUTYH_000306 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-1074C>T r.(=) p.(=) - - - - - g.45801257G>A - - MUTYH_000307 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-1040A>G r.(=) p.(=) - - - - - g.45801223T>C - - MUTYH_000308 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-1015A>G r.(=) p.(=) - - - - - g.45801198T>C - - MUTYH_000309 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-89dup r.(=) p.(=) - - - - - g.45800272dup - - MUTYH_000310 - - Germline (inherited) - Astrid Out
?/? 1 1i c.37-19C>G r.(=) p.(=) - - - - - g.45800202G>C - Olschwang 2007 MUTYH_000087 - - Unknown - Astrid Out
?/? 1 2 c.39C>T r.(39c>u) p.(Ala13Ala) - - - - - g.45800181G>A - Gómez-Fernández 2009 MUTYH_000023 - new in this paper; not in 500 control chromosomes Unknown - Astrid Out
?/? 2 2 c.42C>T r.(42c>u) p.(Ile14Ile) - - - - - g.45800178G>A - Molecular Oncology, CRCM-UMR, Marseille, FR, Aretz 2006 MUTYH_000262 1/658 - Unknown, Germline (inherited) - Sylviane Olschwang, Stefan Aretz
+/+? 1 2 c.49A>T r.(49a>u) p.(Lys17X) - - - - - g.45800171T>A - MGZ, MŸnchen, DE MUTYH_000179 - - Unknown - Elke Holinski-Feder
?/? 14 2 c.53C>T r.(53c>u), - p.(Pro18Leu), p.Pro18Leu - 18811933_test_53, 18811933_test_53_74 - MTS - g.45800167G>A P18L Kim 2007, Chen 2008, DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL, Kim 2007, Shinmura 2001, 2 more items MUTYH_000024 1/124, 3/192, 1/132, 6/276 alleles, 3/686 alleles, 10/202, 3/258 P18L and G25D on same allele (cloning-sequencing analysis), variants in cis, 4 more items Germline (inherited), In vitro (cloned), Unknown - Astrid Out, Carli Tops
+/+? 1 2 c.55C>T r.(55c>u) p.(Arg19X) - - - - - g.45800165G>A - Vogt 2009 MUTYH_000205 - - Germline (inherited) - Stefan Aretz
?/? 1 2 c.56G>A r.(56g>a) p.(Arg19Gln) - - - - - g.45800164C>T - Clinical Genetics, LUMC, Leiden, NL MUTYH_000153 - - Germline (inherited) - Carli Tops
?/? 1 2 c.62C>T r.(62c>u) p.(Ala21Val) - - - - - g.45800158G>A - Olschwang 2007 MUTYH_000146 - - Unknown - Astrid Out
?/?, -/?, -?/? 69 2 c.64G>A r.(64g>a), - p.(Val22Met), p.Val22Met - 18534194_glycosylase_V22M, 18534194_protein_V22M - - - g.45800156C>T V22M, (Val22Met), M22V Shinmura 2001, Molecular Medicine, AUH, Skejby, Aarhus, DK, Croitoru 2004, Ali 2008, Ashton 2005, 26 more items MUTYH_000005 15/230, frequent, 37/530 (7.0%), 15/200 (7.5%), 7/160 alleles, 3/30 alleles, 1/250 (0.4%) patients, 17 more items In N-terminal mitochondrial targeting signal (Shinmura 2001), only variants reported, not genotypes, 8 more items Unknown, Germline (inherited), In vitro (cloned) - Astrid Out, Mette Gaustadnes, Carli Tops, Rodney Scott, Kristina Lagerstedt Robinson, Elke Holinski-Feder, FLORENTIA FOSTIRA
?/? 14 2 c.74G>A r.(74g>a), - p.(Gly25Asp), p.Gly25Asp - 18811933_test_53_74, 18811933_test_74 - MTS - g.45800146C>T G25D, 73G>A (?) G25D Kim 2007, Chen 2008, DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL, Kim 2007, Shinmura 2001, 2 more items MUTYH_000026 1/124, 3/192, 1/132, 6/276 alleles, 3/686 alleles, 10/202, 3/258 P18L and G25D on same allele (cloning-sequencing analysis), 4 more items Germline (inherited), In vitro (cloned), Unknown - Astrid Out, Carli Tops
+?/+? 2 2 c.91del r.(91del) p.(Ala31ProfsX27) - - - - - g.45800129del (Ala31ProfsX46) Clinical Genetics, LUMC, Leiden, NL MUTYH_000116 - - Germline (inherited) - Carli Tops
?/? 1 2 c.98A>C r.(98a>c) p.(Gln33Pro) - - - - - g.45800122T>G - Molecular Oncology, CRCM-UMR, Marseille, FR MUTYH_000264 - - Unknown - Sylviane Olschwang
+/? 1 2i c.156+5G>C r.spl p.? - - - - - g.45800059C>G 156+5G>C ? - MUTYH_000318 - - Unknown - Elke Holinski-Feder
?/?, -?/?, -/? 12 2i c.157+30A>G r.(=) p.(=) - - - - - g.45800033T>C 156+30A>G, IVS2+30A>G Görgens 2007, Peterlongo 2006, Al-Tassan 2003, MGZ, MŸnchen, DE, Zhou 2005, Küry 2007, 1 more item MUTYH_000006 1/58 (1.7%), 3/60 (5.0%), 3/160 alleles, 23/540 (4.3%), 10/206 (4.9%), >0.01, 9,2% of n=84 Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected, 1 more item Germline (inherited), Unknown - Astrid Out, Elke Holinski-Feder
-?/?, ?/? 4 2i c.157+75G>A r.(=) p.(=) - - - - - g.45799988C>T IVS2+75G>A Al-Tassan 2003, Zhou 2005, Out 2009 MUTYH_000154 1.1% of n=84 www.fruitfly.org: no splicing effect Germline (inherited), Unknown - Astrid Out, Carli Tops
?/? 1 2i c.157+136G>A r.(=) p.(=) - - - - - g.45799927C>T - Out 2009 MUTYH_000156 - - Germline (inherited) - Carli Tops
?/? 2 2i c.157+151G>A r.(=) p.(=) - - - - - g.45799912C>T - Out 2009 MUTYH_000155 - - Germline (inherited) - Carli Tops
?/? 1 3 c.158C>G r.(158c>g) p.(Ala53Gly) - - - - - g.45799275G>C 158-42C>G (?) Molecular Oncology, CRCM-UMR, Marseille, FR MUTYH_000265 - 1 more item Unknown - Sylviane Olschwang
?/?, -?/? 2 3 c.224T>A r.(224u>a), - p.(Val75Glu), p.Val75Glu - 20848659_V47E - - - g.45799209A>T 182T>A (Val61Glu) Halford 2003, Goto 2010 MUTYH_000028 - 1 more item Unknown, In vitro (cloned) - Carli Tops
?/+?, +/+? 2 3 c.241_242del r.(241_242del) p.(Val81LeufsX11) - - - - - g.45799191_45799192del 199_200del (Val67LeufsX11), 199_200del; 199GT (Val67LeufsX11) Venesio 2004, Di Gregorio 2006 MUTYH_000027 - 1 more item Unknown, Germline (inherited) - Carli Tops, Astrid Out
-?/? 1 3 c.252C>T r.(252c>u) p.(Tyr84Tyr) - - - - - g.45799181G>A 210C>T (Tyr70Tyr) Al-Tassan 2003 MUTYH_000282 - Alamut: putative strong splice acceptor site after c.263 slightly stronger Germline (inherited) - Astrid Out
+/+?, ?/+?, +?/?, +?/+? 8 3 c.289C>T r.(289c>u), - p.(Arg97X), p.Arg97* - 20848659_ R69X - - - g.45799144G>A 247C>T (Arg83X) Filipe 2009, Aretz 2006; Vogt 2009, Goto 2010, Steinke 2008, Sieber 2003, MGZ, MŸnchen, DE, 1 more item MUTYH_000029 1/658, 1/152 UK patients with 3-100 polyps MSH6: c.3324_3325insT;p.Ile1109TyrfsX3, 1 more item Germline (inherited), In vitro (cloned), Unknown - Astrid Out, Stefan Aretz, Carli Tops, Elke Holinski-Feder
?/? 1 3 c.290G>A r.(290g>a) p.(Arg97Gln) - - - - - g.45799143C>T 248G>A (Arg83Gln) Molecular Oncology, CRCM-UMR, Marseille, FR MUTYH_000266 - - Unknown - Sylviane Olschwang
?/+?, +?/+? 3 3 c.294del r.(294del) p.(Ser99AlafsX3) - - - - - g.45799139del 252del (Ser85AlafsX3), 252delG (Ser85AlafsX3); G84fs Lipton 2003, Sieber 2003; Russell 2006 MUTYH_000030 - - Unknown - Carli Tops, Karl Heinimann
-/?, ?/? 2 3 c.307T>C r.(307u>c) p.(Trp103Arg) - - - - - g.45799126A>G 265T>C (Trp89Arg), 265T>C; MUTYH(rs1140507)T-->C (Trp89Arg) MGZ, MŸnchen, DE, Wang 2005 MUTYH_000181 4/20 (20%) 4 were detected by the chip in the tissues of 10 hepato cellular carcinoma Unknown - Elke Holinski-Feder, Astrid Out
?/? 1 3 c.309G>A r.(309g>a) p.(Trp103X) - - - - - g.45799124C>T 267G>A; G267A (Trp89X); W98X Kairupan 2005 MUTYH_000060 - - Unknown - Astrid Out
?/? 1 3 c.311A>G r.(311a>g) p.(Tyr104Cys) - - - - - g.45799122T>C 269A>G (Tyr90Cys) Gómez-Fernández 2009 MUTYH_000025 - new in this paper; Polyphen: possibly damaging; not in 500 control chromosomes Germline (inherited) - Astrid Out
+/+ 20 3 c.312C>A r.(312c>a), -, r.? p.(Tyr104X), p.Tyr104* - 18534194_glycosylase_Y90X, 18534194_binding_Y90X, 18534194_protein_Y90X - - - g.45799121G>T 270C>A (Tyr90X), 270C>A (Tyr90X); Y90X, 270C>A (Tyr90X); Y190X (?) Di Gregorio 2006, Ali 2008, Ponti 2007, Dolwani 2007, Sampson 2003, Croitoru 2007; O Shea 2008, 8 more items MUTYH_000032 1 more item 5 more items Germline (inherited), In vitro (cloned), Unknown - Astrid Out, Carli Tops, Bruno Vankeirsbilck, Elke Holinski-Feder
?/? 5 3 c.312C>T r.(312c>u) p.(Tyr104Tyr) - - - - - g.45799121G>A 270C>T (Tyr90Tyr), 270C>T (=); (Tyr90Tyr), 270C>T DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL, Aretz 2006, Alhopuro 2005, Olschwang 2007, 1 more item MUTYH_000031 1/658, 1/230, 1/24 individuals (22 families). FAP: 19, AFAP: 3 - Germline (inherited), Unknown - Astrid Out, Stefan Aretz, Mette Gaustadnes
?/? 2 3 c.313G>A r.(313g>a) p.(Asp105Asn) - - - - - g.45799120C>T 271G>A (Asp91Asn) Nielsen 2005, Niessen et al. 2006 MUTYH_000007 - - Germline (inherited) - Carli Tops
?/?, +?/? 3 3 c.325C>T r.(325c>u) p.(Arg109Trp) - - - - - g.45799108G>A 283C>T (Arg95Trp) Clinical Genetics, ErasmusMC, Rotterdam, NL, Vogt 2009;Nielsen 2009b;Nielsen 2009b, Olschwang 2007 MUTYH_000008 - - Unknown, Germline (inherited) - Ans van den Ouweland, Carli Tops, Astrid Out
+/? 2 3i c.348+10C>T r.348_349insGTAGGCAG p.Ala117ValfsX32 - - - - - g.45799075G>A 306+10C>T Ala103ValfsX32 Institute of Human Genetics, Bonn, Germany MUTYH_000321 - - Unknown - Stefanie Vogt
?/? 1 03i c.348+11G>A r.(=) p.(=) - - - - - g.45799074C>T 306+11G>A Shinmura 2001 MUTYH_000108 - - Unknown - Carli Tops
+?/?, +/? 2 3i_16_ c.348+33_*64+146del4285insTA r.? p.? - - - - - g.45794768_45799052delinsTA - Torrezan et al.,2011, Rouleau et al.,2011 MUTYH_000323 - - Unknown, Germline (inherited) - Giovana Torrezan, Etienne Rouleau
?/? 1 4 c.366C>T r.(366c>u) p.(Asp122Asp) - - - - - g.45798979G>A 324C>T Olschwang 2007 MUTYH_000124 - - Unknown - Astrid Out
?/? 1 4 c.376C>T r.(376c>u) p.(Arg126Trp) - - - - - g.45798969G>A 334C>T (Arg112Trp) Olschwang 2007 MUTYH_000125 - - Unknown - Astrid Out
?/? 1 4 c.379G>A r.(379g>a) p.(Ala127Thr) - - - - - g.45798966C>T 337G>A (Ala113Thr) Molecular Medicine, AUH, Skejby, Aarhus, DK MUTYH_000240 1/230 - Unknown - Mette Gaustadnes
?/?, +/? 2 4 c.382T>C r.(382u>c) p.(Tyr128His) - - - - - g.45798963A>G 340T>C (Tyr114His) Isidro 2004, MGZ, MŸnchen, DE MUTYH_000033 - - Unknown - Carli Tops, Elke Holinski-Feder
?/? 1 4i c.388+43C>T r.(=) p.(=) - - - - - g.45798914G>A 346+43C>T Molecular Oncology, CRCM-UMR, Marseille, FR MUTYH_000267 - - Unknown - Sylviane Olschwang
-/? 1 4i c.388+55G>A r.(=) p.(=) - - - - - g.45798902C>T 346+55G>A Olschwang 2007 MUTYH_000126 - - Unknown - Astrid Out
?/?, -/?, -?/? 4 4i c.388+56G>A r.(=) p.(=) - - - - - g.45798901C>T 346+56G>A Molecular Medicine, AUH, Skejby, Aarhus, DK, Peterlongo 2006, MGZ, MŸnchen, DE, Küry 2007 MUTYH_000009 1/230, 2/160 alleles, >0.01 Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected Unknown - Mette Gaustadnes, Astrid Out, Elke Holinski-Feder
?/? 1 4i c.389-46G>A r.(=) p.(=) - - - - - g.45798888C>T 347-46G>A Aretz 2006 MUTYH_000259 1/658 - Germline (inherited) - Stefan Aretz
-?/? 1 4i c.389-20T>C r.(=) p.(=) - - - - - g.45798862A>G 347-20T>C Al-Tassan 2003 MUTYH_000283 - - Germline (inherited) - Astrid Out
+/?, ?/? 4 4i c.389-1G>A r.(389_462del), r.(389_462del); r.(spl? p.(Val130GlufsX98) - - - - - g.45798843C>T 347-1G>C, 347-1G>A (Val116GlufsX98), 347-1G>A Filipe 2009, Sampson 2003, MGZ, MŸnchen, DE MUTYH_000110 - 1 more item Germline (inherited), Unknown - Astrid Out, Carli Tops, Elke Holinski-Feder
+?/?, +/?, +?/. 3 4i c.389-1G>C r.(389_462del), r.spl? p.(Val130GlufsX98), p.? - - - - - g.45798843C>G 347-1G>C, c.347-1GC Olschwang 2007 MUTYH_000127 - 1 more item Unknown - Giovana Torrezan, Astrid Out, Esther Sarasola
?/?, +/? 2 5 c.391T>A r.(391u>a) p.(Trp131Arg) - - - - - g.45798840A>T 349T>A (Trp117Arg) Sampson 2003, MGZ, MŸnchen, DE MUTYH_000034 - - Unknown - Carli Tops, Elke Holinski-Feder
?/+? 1 5 c.412C>T r.(412c>u) p.(Gln138X) - - - - - g.45798819G>A 370C>T Gln124X Molecular Oncology, CRCM-UMR, Marseille, FR MUTYH_000268 - - Unknown - Sylviane Olschwang
+/+?, +?/+? 3 5 c.421del r.(421del) p.(Gln141ArgfsX5) - - - - - g.45798810del 379delC (Gln127ArgfsX5) Di Gregorio 2006, Ponti 2005; Ponti 2007 MUTYH_000061 - protein should lack C-terminal domain, 2 more items Germline (inherited), Unknown - Astrid Out
?/? 1 5 c.450C>T r.(450c>u) p.(Thr150Thr) - - - - - g.45798781G>A 408C>T (Thr136Thr) Aretz 2006 MUTYH_000260 1/658 - Germline (inherited) - Stefan Aretz
?/? 1 5 c.453A>C r.(453a>c) p.(Gly151Gly) - - - - - g.45798778T>G 411A>C (Gly137Gly) Human Genetics, UH Gasthuisberg, Leuven, BE MUTYH_000250 - - Unknown - Bruno Vankeirsbilck
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