Unique variants in gene APC

Information The variants shown are described using the NM_000038.5 transcript reference sequence.

1551 entries on 16 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Consequence_Predicted     

Exon_old     

Splicing/transcript expression     

Variant_Type     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/? 1 _1 c.-30461T>G -47408T>G r.(?) p.? - Promotor - substitution g.112043180T>G - - APC_000418 - numbering 5' of ATG Unknown ? Elke Holinski-Feder
?/? 1 _1 c.-30361_-30360insG -47307insG r.(?) p.? - Promotor - - g.112043280_112043281insG - - APC_000417 - numbering 5' of ATG Unknown ? Elke Holinski-Feder
?/? 1 _1 c.-30359C>G -47306C>G (5' of ATG) r.(?) p.? - Promotor - substitution g.112043282C>G - - APC_000415 - numbering 5' of ATG Unknown ? Elke Holinski-Feder
?/? 1 _1 c.-30340C>T -47287C>T r.(?) p.? - Promotor - substitution g.112043301C>T - - APC_000416 - numbering 5' of ATG Unknown ? Elke Holinski-Feder
+/. 1 P_1_3i c.-12247_-18-7285delinsTTGCTCTATGACCAATT g.112,061,394_112,083,285del 21,890 insTTGCTCTATGACCAATT r.(?) p.? deletion, large promoter 1B - deletion, large g.112061394_112083285delinsTTGCTCTATGACCAATT - - APC_001246 - - Germline (inherited) ? Tanya Kadiyska
+/+ 3 P_1_4i c.(?_-85)_(135+1_136-1)del -85-?_135+?del r.0 p.0 deletion, large 1i+promoter - deletion, large g.(?_112073556)_(112090723_112102022)del - Aretz et al. 2005 APC_000526 - - Germline (inherited) ? Stefan Aretz
+/+ 4 P_1_8i c.(?_-85)_(645+1_646-1)del -85-?_645+?del r.0 p.0 deletion, large 1_5+promoter, 1_5+promotor - deletion, large g.(?_112073556)_(112116601_112128142)del - Aretz et al. 2005, Nielsen et al. 2007a; Nielsen et al. 2007b APC_000527 - - Germline (inherited) ? Stefan Aretz
+/+ 2 P_1_10i c.(?_-85)_(834+1_835-1)del -85-?_834+?del r.0 p.0 deletion, large 1_7i+promoter - deletion, large g.(?_112073556)_(112137081_112151191)del - Aretz et al. 2005 APC_000528 - - Germline (inherited), Unknown ? Stefan Aretz
+/+ 3 P_1_13i c.(?_-85)_(1408+1_1409-1)del g.35041-?_119471+?del r.0 p.0 deletion, large 1_10i+promoter - deletion, large g.(?_112073556)_(112157689_112162804)del - Aretz et al. 2005 APC_000529 - - Germline (inherited) ? Stefan Aretz
+/+ 24 P_1_18, P_1_18_ c.(?_-85)_(*1_?)del cytogenetic deletion, g.35041-?_141606+?del, (?_30)_(*220_?)del whole allele, g.35041-?_135250+?del, 2 more items r.0 p.0 deletion, large 1_15+promoter, 1_15+promotor - deletion, large g.(?_112073556)_(112179824_?)del - Raedle et al. 2001, Rivera et al. 2010, Aceto et al. 2005, Gómez-Fernández et al. 2009, 4 more items APC_000200 - cytogenetic deletion, Deletion entire APC gene Unknown, Germline (inherited), De novo ? Stefan Aretz, Carli Tops
+/+ 42 _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del, g.26940-?_133343+?del r.0 p.0 deletion, large _1_15_ - deletion, large g.(?_112090569)_(112179824_?)del - Aretz et al. 2005, Aretz and Friedl (unpublished), Mandl et al. 1996, Friedl et al. 2001, 1 more item APC_000531 - - Germline (inherited), Unknown ? Stefan Aretz
+/+ 55 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del 423-?_531+?del, g.65185_65788del, exon 4 deletion r.? p.0? deletion, large 4 - deletion, large g.(112073623_112090569)_(112090723_112102022)del - Aretz and Friedl (unpublished), Gómez-Fernández et al. 2009, Pagenstecher et al. 2007, 2 more items APC_000534 - - Germline (inherited), De novo ? Stefan Aretz
+/+ 1 3i_10i c.(-19+1_-18-1)_(834+1_835-1)del - r.? p.0? deletion, large 1_7i - deletion, large g.(112073623_112090569)_(112137081_112151191)del - - APC_000738 - - Unknown ? Maurizio Genuardi
+/+ 9 _1i_18_ c.(?_-18-1)_(*1_?)del g.63806-?_141606+?del, g.52371-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished), Gómez-Fernández et al. 2009, Vogt and Aretz (unpublished), 1 more item APC_000532 - - Unknown, De novo, Germline (inherited) ? Stefan Aretz
+/+ 1 4 c.70C>T - r.(?) p.(Arg24*) nonsense 1 - substitution g.112090657C>T - Kanter-Smoler et al. 2008 APC_000551 - - Unknown ? Stefan Aretz
+/. 1 4 c.104del - r.(?) p.(Thr35Lysfs*10) - - - deletion g.112090691del - Copy of Laner submitted to LOVD shared database APC_001266 - - Germline (inherited) - LOVD_Shared
+/+ 1 5 c.145A>T - r.(?) p.(Lys49*) nonsense 2 - substitution g.112102032A>T - - APC_000419 - - Unknown ? Elke Holinski-Feder
+/+ 3 5 c.147_150del 145_148delAAAC r.(?) p.(Lys49Asnfs*20) frameshift 2 - deletion, small g.112102034_112102037del - Rivera et al. 2010, Gómez-Fernández et al. 2009 APC_001029 - - Germline (inherited) ? Stefan Aretz
+/? 1 5 c.220G>A - r.136_220del p.Glu46Serfs*4 splicing affected 2 - substitution g.112102107G>A - Aretz and Spier unpublished APC_001527 - - Unknown ? Stefan Aretz
+/+ 1 5 c.220G>T - r.spl? p.? nonsense 2 - substitution g.112102107G>T - Stekrova et al. 2007 APC_001030 - - Germline (inherited) ? Stefan Aretz
?/? 1 5i c.221-14T>G IVS3-14T>G r.(?) p.? splicing affected 2i - substitution g.112102872T>G - Plawski et Slomski 2008 APC_001032 - - Unknown ? Stefan Aretz
?/. 1 5i c.221-11A>G - r.(?) p.? - - - substitution g.112102875A>G - Copy of Laner submitted to LOVD shared database APC_001267 - - Germline (inherited) - LOVD_Shared
?/? 1 5i c.221-1G>C IVS3-1G>C r.spl p.? splicing affected 2i - substitution g.112102885G>C - Plawski et Slomski 2008 APC_001031 - - Unknown ? Stefan Aretz
+/+ 1 6 c.230T>G - r.(?) p.(Leu77*) nonsense 3 - substitution g.112102895T>G - Stekrova et al. 2007 APC_001033 - - Unknown ? Stefan Aretz
?/? 1 6 c.245T>C - r.(?) p.(Phe82Ser) missense 3 - substitution g.112102910T>C - Carli Tops (unpublished) APC_000647 - - Unknown ? Carli Tops
+/+ 1 6 c.250G>T 250G>T r.(?) p.(Arg84*) nonsense 3 - substitution g.112102915G>T - Lagarde et al. 2010 APC_001526 - - Unknown ? Stefan Aretz
?/? 1 6 c.262C>T - r.(?) p.(Arg88Trp) missense 3 - substitution g.112102927C>T - Carli Tops (unpublished) APC_000648 - - Unknown ? Carli Tops
?/+, +/+ 3 6 c.266C>A - r.(?) p.(Ser89*) nonsense 3 - substitution g.112102931C>A - Copy of Laner submitted to LOVD shared database APC_000741 - - Germline (inherited), Unknown ? Elke Holinski-Feder, LOVD_Shared
+/+ 1 6 c.281_282insC - r.(?) p.(Ser95Phefs*44) frameshift 3 - insertion, small g.112102946_112102947insC - Rivera et al. 2010 APC_001034 - - De novo ? Stefan Aretz
+/+ 3 6 c.288T>A 288T>A r.(?) p.(Tyr96*) nonsense 3 - substitution g.112102953T>A - Copy of Ibrahim submitted to LOVD shared database APC_001248 - - Germline (inherited), Unknown ? LOVD_Shared, Stefan Aretz
+/+ 2 6 c.288T>G 288T>G r.(?) p.(Tyr96*) nonsense 3 - substitution g.112102953T>G - Lagarde et al. 2010 APC_001525 - - Unknown ? Stefan Aretz
+/+ 1 6 c.288_289insCC - r.(?) p.(Gly97Profs*29) frameshift 3 - insertion, small g.112102953_112102954insCC - Stekrova et al. 2007 APC_001035 - - Unknown ? Stefan Aretz
+/+ 1 6 c.289G>T - r.(?) p.(Gly97*) nonsense 3 - substitution g.112102954G>T - Carli Tops (unpublished) APC_000649 - - Germline (inherited) ? Carli Tops
+/+ 1 6 c.294_301del 294_301delCCGGGAAG r.(?) p.(Ser98Argfs*38) frameshift 3 - deletion, small g.112102959_112102966del - Hutter et al. 2001 APC_001036 - - Germline (inherited) ? Stefan Aretz
?/? 7 6 c.295C>T codon 99, CGG --> TGG r.(?) p.(Arg99Trp) missense 3 - substitution g.112102960C>T - Dobbie et al. 1996, Vogt and Aretz (unpublished), Carli Tops (unpublished) APC_000420 - rare variant Germline (inherited), Unknown ? Elke Holinski-Feder, Stefan Aretz, Carli Tops
+/+ 1 6 c.298G>T - r.(?) p.(Glu100*) nonsense 3 - substitution g.112102963G>T - - APC_000421 - - Unknown ? Elke Holinski-Feder
+/+ 3 6 c.301G>T - r.(?) p.(Gly101*) nonsense 3 - substitution g.112102966G>T - Aretz and Spier unpublished, Vogt and Aretz (unpublished), Aretz and Friedl (unpublished) APC_000344 - - Unknown, Germline (inherited) ? Stefan Aretz
+/+ 1 6 c.311C>G - r.(?) p.(Ser104*) nonsense 3 - substitution g.112102976C>G - Aretz and Friedl (unpublished) APC_000368 - - Germline (inherited) ? Stefan Aretz
+/+ 1 6 c.331del 331delA r.(?) p.(Ser111Valfs*14) frameshift 3 - deletion, small g.112102996del - Carli Tops (unpublished) APC_000622 - - Germline (inherited) ? Carli Tops
+/+ 1 6 c.341del 340delC r.(?) p.(Pro114Leufs*11) frameshift 3 - deletion, small g.112103006del - Fostira et al. 2010 APC_000742 - - De novo ? Stefan Aretz
?/. 1 6 c.343A>G - r.(?) p.(Met115Val) - - - - g.112103008A>G - Thibodeau lab (Mayo Clinic) APC_001575 - - Germline (inherited) - Melissa DeRycke
+/+ 1 6 c.344dup 344dupT r.(?) p.(Met115Ilefs*24) frameshift 3 - duplication, small g.112103009dup - Lagarde et al. 2010 APC_001518 - - Unknown ? Stefan Aretz
+/+ 2 6 c.361A>T 361A>T r.(?) p.(Arg121*) nonsense 3 - substitution g.112103026A>T - Armstrong et al. 1997, Lagarde et al. 2010 APC_001037 - - Unknown ? Stefan Aretz
+/+ 3 6 c.366del 366delG r.(?) p.(Phe123Leufs*3), p.(Phe123Leufs*2) frameshift 3 - deletion, small g.112103031del - Aretz and Spier unpublished, Friedl and Aretz 2005, Lagarde et al. 2010 APC_000160 - - Unknown ? Stefan Aretz
+/+ 1 6 c.376G>T G126X r.(?) p.(Gly126*) nonsense 3 - substitution g.112103041G>T - Sieber et al. 2006 APC_000743 - - Unknown ? Stefan Aretz
?/? 1 6 c.379A>G - r.(?) p.(Ser127Gly) missense 3 - substitution g.112103044A>G - Vandrovcová et al. 2004 APC_001038 - - Unknown ? Stefan Aretz
+/+ 5 6 c.386_387insT - r.(?) p.(Glu129Aspfs*10 het) frameshift 3 - insertion, small g.112103051_112103052insT - Friedl and Aretz 2005 APC_000318 - - Germline (inherited) ? Stefan Aretz
?/. 2 6 c.388A>G - r.(?) p.(Ser130Gly) - - - substitution g.112103053A>G - Copy of Laner submitted to LOVD shared database, Thibodeau lab (Mayo Clinic) APC_001268 - - Germline (inherited) - LOVD_Shared, Melissa DeRycke
+/+ 1 6 c.399T>G 399T>G r.(?) p.(Tyr133*) nonsense 3 - substitution g.112103064T>G - Lagarde et al. 2010 APC_001519 - - Unknown ? Stefan Aretz
+/+ 1 6 c.401T>A - r.(?) p.(Leu134*) nonsense 3 - substitution g.112103066T>A - Nielsen et al. 2007b APC_000650 - - Germline (inherited) ? Carli Tops
+/+ 1 6 c.408del 408delA r.(?) p.(Glu136Aspfs*34) frameshift 3 - deletion, small g.112103073del - Lagarde et al. 2010 APC_001520 - - Unknown ? Stefan Aretz
+/+ 2 6 c.416_419del 416_419delAAGA r.(?) p.(Lys139Argfs*30), p.(Lys139Glufs*7) frameshift 3 - deletion, small g.112103081_112103084del - Kanter-Smoler et al. 2008, Friedl and Aretz 2005 APC_000168 - - Germline (inherited), Unknown ? Stefan Aretz
+/+ 5 6 c.419_422del 419_422delAGAG, 419del4, -AGAG r.(?) p.(Glu140Glyfs*28) frameshift 3 - deletion, small g.112103084_112103087del - Rivera et al. 2010, Gismondi et al. 1997, Lagarde et al. 2010, Aretz and Friedl (unpublished) APC_000393 - - De novo, Unknown, Germline (inherited) ? Stefan Aretz
+/? 1 6i c.422+1G>A - r.spl p.? splicing affected 3i - substitution g.112103088G>A - - APC_000422 - - Unknown ? Elke Holinski-Feder
+/+ 1 6i c.422+2T>A 422+2T>A r.spl p.? splicing affected 3i - substitution g.112103089T>A - Lagarde et al. 2010 APC_001521 - - Unknown ? Stefan Aretz
+/. 1 6i c.422+2T>C - r.spl? p.? - - - substitution g.112103089T>C - Copy of Laner submitted to LOVD shared database APC_001269 - cDNA: Skipping Exon6 Germline (inherited) - LOVD_Shared
+/+ 2 6i c.422+13_422+14ins(468) 422+14ins468 r.(?) p.? - 3i - insertion, large g.112103100_112103101ins(468), g.112103101_112103101ins(468) - Aretz and Friedl (unpublished) APC_000272 - UV (splice?) Germline (inherited), Unknown ? Stefan Aretz
-/- 1 6i c.423-17_423-16insT 423-16insT r.(?) p.? - 3i - insertion, small g.112111309_112111310insT - Han et al. 2010 APC_001041 - - Unknown ? Stefan Aretz
+/+ 13 6i c.423-11A>G r.422_423insAAAAAAATAG r.422_423ins423-10_423-1, r.spl? p.Ser142Lysfs*3, p.? splicing affected 3i - substitution, deletion, small g.112111315A>G - Aretz and Spier unpublished, Vogt and Aretz (unpublished), Aretz and Friedl (unpublished) APC_000384 - UV (splice?) Unknown, Germline (inherited) ? Stefan Aretz
?/? 1 6i c.423-7A>G - r.spl? p.? - 3i - substitution g.112111319A>G - Han et al. 2010 APC_001040 - UV Unknown ? Stefan Aretz
+/? 1 6i c.423-6_424delinsGAAGCAAGATCAG 423-6delAAATAGGTinsGAAGCAAGATCAG r.spl? p.? splicing affected 3i - indel g.112111320_112111327delinsGAAGCAAGATCAG - Kanter-Smoler et al. 2008 APC_000602 - - Germline (inherited) ? Stefan Aretz
+/+ 6 6i c.423-5A>G - r.spl? p.? splicing affected 3i - substitution g.112111321A>G - Aretz et al. 2004 APC_000147 - - Unknown, Germline (inherited) ? Stefan Aretz
?/? 1 6i c.423-4del codon 142, aatag/GTC --> atag/GTC r.spl? p.? splicing affected 3i - deletion, small g.112111322del - Miyoshi et al. 1992 APC_000744 - - Unknown ? Stefan Aretz
+/?, +?/+? 2 6i c.423-3T>A - r.spl? p.? splicing affected 3i - substitution g.112111323T>A - Aretz and Spier unpublished, Friedl and Aretz 2005 APC_000213 - - Unknown ? Stefan Aretz
?/? 2 6i c.423-2A>G - r.spl p.? splicing affected 3i - substitution g.112111324A>G - Rivera et al. 2010 APC_001039 - - Germline (inherited) ? Stefan Aretz
+/+ 1 6i c.423-2A>T - r.spl p.? splicing affected 3i - substitution g.112111324A>T - Aretz et al. 2004 APC_000311 - - Unknown ? Stefan Aretz
+/+, +/?, ?/? 52 6i c.423-1G>A intron 3, -1 position, agGT --> aaGT, 423-1G>A, nt-1 of exon 4, AG --> AA r.spl p.? splicing affected 3i - substitution g.112111325G>A - Friedl and Aretz 2005, Aretz and Spier unpublished, Spirio et al. 1999, Lagarde et al. 2010, 1 more item APC_000330 - - Unknown, Germline (inherited) ? Stefan Aretz
?/?, +/+ 3 6i c.423-1G>C - r.spl p.? splicing affected 3i - substitution g.112111325G>C - Hutter et al. 2001, Aretz et al. 2004 APC_000102 - - Germline (inherited) ? Stefan Aretz
+/+ 2 6i c.423-1G>T - r.spl, r.spl? p.?, p.(=) splicing affected 3i - substitution g.112111325G>T - Aretz et al. 2004, Copy of Laner submitted to LOVD shared database APC_000268 - - Unknown, Germline (inherited) ? Stefan Aretz, LOVD_Shared
+/+ 1 6i_7i c.(422+1_423-1)_(531+1_532-1)dup 423-?_531+?dup r.? p.(Phe178Valfs*6) frameshift 4 - duplication, large g.(112103088_112111325)_(112111435_112116486)dup - Aretz (unpublished) APC_000750 - - Unknown ? Stefan Aretz
+/+ 1 6i_8i c.(422+1_423-1)_(645+1_646-1)del g.73109-?_78383+?del r.? p.? deletion, large 3i_5i - deletion, large g.(112103088_112111325)_(112116601_112128142)del - Nielsen et al. 2007a APC_000620 - - De novo ? Carli Tops
+/+ 5 7 c.423G>T 423G>T r.423_531del, r.spl p.?, p.Arg141Serfs*8 splicing affected 4 - substitution g.112111326G>T - Aretz et al. 2004, Lagarde et al. 2010 APC_000269 - - Germline (inherited), Unknown ? Stefan Aretz
+/+ 14 7 c.426_427del 426_427delAT + 5465A>T r.(?) p.(Leu143Alafs*4) frameshift 4 - deletion, small g.112111329_112111330del - Neklason 2008, Friedl and Aretz 2005 APC_000264 - - Unknown, Germline (inherited) ? Stefan Aretz
+/+ 1 7 c.439del 439delG r.(?) p.(Asp147Ilefs*23) frameshift 4 - deletion, small g.112111342del - Kanter-Smoler et al. 2008 APC_000594 - - De novo ? Stefan Aretz
+/+ 1 7 c.446A>T - r.(?) p.(Asp149Val) missense 4 - substitution g.112111349A>T - Tao et al. 2010 APC_001042 - - Unknown - Stefan Aretz
+/+ 4 7 c.449_450del 449_450delAA r.(?) p.(Lys150Argfs*17) frameshift 4 - deletion, small g.112111352_112111353del - van der Luijt et al. 1997, Carli Tops (unpublished) APC_000651 - - Germline (inherited) ? Carli Tops
+/+ 6 7 c.450_453del 450_453delAGAA r.(?) p.(Glu151Lysfs*18) frameshift 4 - deletion, small g.112111353_112111356del - Aretz and Spier unpublished, Friedl and Aretz 2005, Friedl et al. 2001 APC_000190 - - Unknown, Germline (inherited) ? Stefan Aretz, Elke Holinski-Feder
+/+ 1 7 c.450_453dup 454_457insAGAA r.(?) p.(Glu152Argfs*17) frameshift 4 - insertion, small g.112111353_112111356dup - Tao et al. 2010 APC_001044 - - Germline (inherited) ? Stefan Aretz
+/+ 3 7 c.453del 453delA r.(?) p.(Glu152Lysfs*18) frameshift 4 - deletion, small g.112111356del - Friedl and Aretz 2005 APC_000106 - - Germline (inherited) ? Stefan Aretz
+/+ 11 7 c.455_459del 455_459delAAAAG r.(?) p.(Glu152Glyfs*14) frameshift 4 - deletion, small g.112111358_112111362del - Friedl and Aretz 2005 APC_000231 - - Germline (inherited), Unknown ? Stefan Aretz
+/+ 2 7 c.457_458del 457_458delAA r.(?) p.(Lys153Glyfs*14) frameshift 4 - deletion, small g.112111360_112111361del - Friedl and Aretz 2005, Friedl et al. 2001 APC_000191 - - Germline (inherited), Unknown ? Stefan Aretz
+/+ 1 7 c.469del 469delT r.(?) p.(Trp157Glyfs*13) frameshift 4 - deletion, small g.112111372del - Miyaki et al. 1994; Enomoto et al. 2000 APC_000745 - - Unknown ? Stefan Aretz
+/+ 8 7 c.469dup 487insT r.(?) p.(Trp157Leufs*11) frameshift 4 - duplication, small g.112111372dup - Walon et al. 1997 APC_000746 - - Germline (inherited) ? Stefan Aretz
+/+ 1 7 c.470G>A 470G>A r.(?) p.(Trp157*) nonsense 4 - substitution g.112111373G>A - Lagarde et al. 2010 APC_001522 - - Unknown ? Stefan Aretz
+/. 1 7 c.471dup - r.(?) p.(Tyr158Valfs*10) - - - duplication g.112111374dup - Copy of Laner submitted to LOVD shared database APC_001249 - - Germline (inherited) - LOVD_Shared
+/+ 3 7 c.471G>A 471G>A r.(?) p.(Trp157*) nonsense 4 - substitution g.112111374G>A - Carli Tops (unpublished), Lagarde et al. 2010, Copy of Laner submitted to LOVD shared database APC_000652 - - Germline (inherited), Unknown ? Carli Tops, Stefan Aretz, LOVD_Shared
+/+ 1 7 c.474T>G 474T>G r.(?) p.(Tyr158*) nonsense 4 - substitution g.112111377T>G - Lagarde et al. 2010 APC_001523 - - Unknown ? Stefan Aretz
+/+ 1 7 c.475dup 474_475insT r.(?) p.(Tyr159Leufs*12) frameshift 4 - duplication, small g.112111378dup - - APC_001524 - - Unknown ? Stefan Aretz
+/. 1 7 c.475dup - r.(?) p.(Tyr159Leufs*9) - - - - g.112111378dup - Thibodeau lab (Mayo Clinic) APC_001524 - - Germline (inherited) - Melissa DeRycke
+/+ 1 7 c.476dup 476dupA r.(?) p.(Tyr159*) frameshift 4 - duplication, small g.112111379dup - Lagarde et al. 2010 APC_001392 - - Unknown ? Stefan Aretz
+/+ 4 7 c.477C>G 477C>G r.(?) p.(Tyr159*) nonsense 4 - substitution g.112111380C>G - Friedl and Aretz 2005 APC_000203 - - Unknown ? Stefan Aretz
+/+ 1 7 c.477del 477delC r.(?) p.(Tyr159*) nonsense 4 - deletion, small g.112111380del - - APC_001393 - - Unknown ? Stefan Aretz
+/+ 1 7 c.478_479insTAAG 478_479insTAAG r.(?) p.(Ala160Valfs*9) frameshift 4 - insertion, small g.112111381_112111382insTAAG - Lagarde et al. 2010 APC_001394 - - Unknown ? Stefan Aretz
+/+ 8 7 c.481C>T - r.(?) p.(Gln161*) nonsense 4 - substitution g.112111384C>T - Friedl and Aretz 2005, Vandrovcová et al. 2004, Carli Tops (unpublished) APC_000166 - - Germline (inherited), Unknown, De novo ? Stefan Aretz, Carli Tops
+/+ 8 7 c.487C>T nucleotide 487, C --> T, Q163X r.(?) p.(Gln163*) nonsense 4 - substitution g.112111390C>T - Carli Tops (unpublished), Soravia et al. 1998, Sieber et al. 2006 APC_000653 - - Germline (inherited), Unknown ? Carli Tops, Stefan Aretz
+/+ 1 7 c.496dup 497insA r.(?) p.(Thr166Asnfs*2) frameshift 4 - insertion, small g.112111399dup - Tao et al. 2010 APC_001045 - - Unknown ? Stefan Aretz
+/. 1 - c.497dup disruptive variant (mosaic) r.(?) p.Lys167* - - - - g.112111400dup - 1 more item chr5_001049 - - Germline (inherited) - Stephanie Baert-Desurmont
+/+ 4 7 c.502A>T 502A>T, codon 168, AGA --> TGA r.(?) p.(Arg168*) nonsense 4 - substitution g.112111405A>T - Lagarde et al. 2010, Olschwang et al. 1993, Aretz (unpublished), 1 more item APC_000747 - - Unknown, Germline (inherited) ? Stefan Aretz, LOVD_Shared
+/+ 3 7 c.502del 502delA r.(?) p.(Arg168Glufs*2) frameshift 4 - deletion, small g.112111405del - - APC_000425 - - Unknown ? Elke Holinski-Feder
+/+ 1 7 c.504_507del codon 168, -AATA r.(?) p.(Asp170Valfs*4) frameshift 4 - deletion, small g.112111407_112111410del - Bunyan et al. 1995 APC_000748 - - Unknown ? Stefan Aretz
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