Full data view for gene APC

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

4648 entries on 47 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Consequence_Predicted     

Exon_old     

Splicing/transcript expression     

Variant_Type     

Allele     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Date     

Template     

Technique     

Tissue     

Method     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Family History     

Pedigree information available     

Selection criteria for proband testing     

Panel size     

Owner     
?/? _1 c.-30461T>G -47408T>G r.(?) p.? - Promotor - substitution Parent #1 g.112043180T>G - - APC_000418 - numbering 5' of ATG Unknown ? - DNA SEQ ? screen APC gene (index patient) FAP-1 - - (Germany) - - - - - 1 Elke Holinski-Feder
?/? _1 c.-30361_-30360insG -47307insG r.(?) p.? - Promotor - - Parent #1 g.112043280_112043281insG - - APC_000417 - numbering 5' of ATG Unknown ? - DNA SEQ ? screen APC gene (index patient) FAP-1 - - (Germany) - - - - - 1 Elke Holinski-Feder
?/? _1 c.-30359C>G -47306C>G (5' of ATG) r.(?) p.? - Promotor - substitution Parent #1 g.112043282C>G - - APC_000415 - numbering 5' of ATG Unknown ? - DNA SEQ ? screen APC gene (index patient) FAP-1 - - (Germany) - - - - - 1 Elke Holinski-Feder
?/? _1 c.-30340C>T -47287C>T r.(?) p.? - Promotor - substitution Parent #1 g.112043301C>T - - APC_000416 - numbering 5' of ATG Unknown ? - DNA SEQ ? screen APC gene (index patient) FAP-1 - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 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 Paternal (confirmed) g.112061394_112083285delinsTTGCTCTATGACCAATT - - APC_001246 - - Germline (inherited) ? - DNA arrayCGH, MLPA, SEQ leukocytes unknown FAP-1 - M Bulgaria - - - Yes colorectal symptoms 1 Tanya Kadiyska
+/+ P_1_4i c.(?_-85)_(135+1_136-1)del -85-?_135+?del r.0 p.0 deletion, large 1i+promoter - deletion, large Unknown g.(?_112073556)_(112090723_112102022)del - Aretz et al. 2005 APC_000526 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - Yes colorectal symptoms 1 Stefan Aretz
+/+ P_1_4i c.(?_-85)_(135+1_136-1)del -85-?_135+?del r.0 p.0 deletion, large 1i+promoter - deletion, large Unknown g.(?_112073556)_(112090723_112102022)del - Aretz et al. 2005 APC_000526 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes colorectal symptoms 1 Stefan Aretz
+/+ P_1_4i c.(?_-85)_(135+1_136-1)del -85-?_135+?del r.0 p.0 deletion, large 1i+promoter - deletion, large Unknown g.(?_112073556)_(112090723_112102022)del - Aretz et al. 2005 APC_000526 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ P_1_8i c.(?_-85)_(645+1_646-1)del -85-?_645+?del r.0 p.0 deletion, large 1_5+promoter - deletion, large Unknown g.(?_112073556)_(112116601_112128142)del - Aretz et al. 2005 APC_000527 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - Yes - 1 Stefan Aretz
+/+ P_1_8i c.(?_-85)_(645+1_646-1)del -85-?_645+?del r.0 p.0 deletion, large 1_5+promoter - deletion, large Unknown g.(?_112073556)_(112116601_112128142)del - Aretz et al. 2005 APC_000527 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ P_1_8i c.(?_-85)_(645+1_646-1)del -85-?_645+?del r.0 p.0 deletion, large 1_5+promoter - deletion, large Unknown g.(?_112073556)_(112116601_112128142)del - Aretz et al. 2005 APC_000527 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - M Germany - - - Yes - 1 Stefan Aretz
+/+ P_1_8i c.(?_-85)_(645+1_646-1)del -85-?_645+?del r.0 p.0 deletion, large 1_5+promotor - deletion, large Unknown g.(?_112073556)_(112116601_112128142)del - Nielsen et al. 2007a; Nielsen et al. 2007b APC_000527 - - Germline (inherited) ? - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - M Netherlands - - - - - 1 Stefan Aretz
+/+ P_1_10i c.(?_-85)_(834+1_835-1)del -85-?_834+?del r.0 p.0 deletion, large 1_7i+promoter - deletion, large Unknown g.(?_112073556)_(112137081_112151191)del - Aretz et al. 2005 APC_000528 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - Yes colorectal symptoms 1 Stefan Aretz
+/+ P_1_10i c.(?_-85)_(834+1_835-1)del -85-?_834+?del r.0 p.0 deletion, large 1_7i+promoter - deletion, large Unknown g.(?_112073556)_(112137081_112151191)del - Aretz et al. 2005 APC_000528 - - Unknown ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - M Germany - - - Yes call (screening) 1 Stefan Aretz
+/+ 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 Unknown g.(?_112073556)_(112157689_112162804)del - Aretz et al. 2005 APC_000529 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - Yes colorectal symptoms 1 Stefan Aretz
+/+ 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 Unknown g.(?_112073556)_(112157689_112162804)del - Aretz et al. 2005 APC_000529 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes colorectal symptoms 1 Stefan Aretz
+/+ 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 Unknown g.(?_112073556)_(112157689_112162804)del - Aretz et al. 2005 APC_000529 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes call (screening) 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del whole gene deletion r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Nielsen et al. 2007a APC_000200 - Deletion entire APC gene Germline (inherited) ? - DNA MLPA leukocytes screen APC gene (index patient) FAP-1 - F Netherlands - - - - colorectal symptoms 1 Carli Tops
+/+ P_1_18 c.(?_-85)_(*1_?)del cytogenetic deletion r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Raedle et al. 2001 APC_000200 - cytogenetic deletion Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ P_1_18 c.(?_-85)_(*1_?)del cytogenetic deletion r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Aretz et al. 2005 APC_000200 - cytogenetic deletion De novo ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ P_1_18 c.(?_-85)_(*1_?)del cytogenetic deletion r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Aretz et al. 2005 APC_000200 - cytogenetic deletion De novo ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ P_1_18 c.(?_-85)_(*1_?)del cytogenetic deletion r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000200 - cytogenetic deletion Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_135250+?del r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000200 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Austria - - - Yes - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_135250+?del r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000200 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - M Germany - - - Yes - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_135250+?del r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000200 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_135250+?del r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000200 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promotor - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Nielsen et al. 2007a APC_000200 - - De novo ? - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - M Netherlands - - - - - 1 Carli Tops
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promotor - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Nielsen et al. 2007a APC_000200 - - Germline (inherited) ? - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - M Netherlands - - - - - 1 Carli Tops
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promotor - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Nielsen et al. 2007a APC_000200 - - Germline (inherited) ? - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - Belgium - - - - - 1 Carli Tops
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promotor - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Nielsen et al. 2007a APC_000200 - - Unknown ? - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - F Netherlands - - - - - 1 Carli Tops
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promotor - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Nielsen et al. 2007a APC_000200 - - Germline (inherited) ? - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - M Netherlands - - - - - 1 Carli Tops
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promotor - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Nielsen et al. 2007a APC_000200 - - Germline (inherited) ? - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - F Netherlands - - - - - 1 Carli Tops
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promotor - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Carli Tops (unpublished) APC_000200 - - De novo ? - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - F Netherlands - - - - - 1 Carli Tops
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promotor - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Carli Tops (unpublished) APC_000200 - - Germline (inherited) ? - DNA MLPA, SEQ leukocytes screen APC gene (index patient) FAP-1 - - Netherlands - - - - - 1 Carli Tops
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Rivera et al. 2010 APC_000200 - - Germline (inherited) ? - DNA SEQ - screen APC gene (index patient) FAP-1 Spain, Madrid, Human Genetics Group, Human Cancer Genetics Programme, National Spanish Cancer Research Centre - Spain - - - No - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Rivera et al. 2010 APC_000200 - - De novo ? - DNA SEQ - screen APC gene (index patient) FAP-1 Spain, Madrid, Human Genetics Group, Human Cancer Genetics Programme, National Spanish Cancer Research Centre - Spain - - - No - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Rivera et al. 2010 APC_000200 - - De novo ? - DNA SEQ - screen APC gene (index patient) FAP-1 Spain, Madrid, Human Genetics Group, Human Cancer Genetics Programme, National Spanish Cancer Research Centre - Spain - - - No - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Aceto et al. 2005 APC_000200 - - Germline (inherited) ? - DNA HD, PTT, SSCA, DHPLC - screen APC gene (index patient) FAP-1 Italy, Chieti, Department of Oncology and Neurosciences, University G. D'Annunzio - Italy - - - No - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del (?_30)_(*220_?)del whole allele r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Gómez-Fernández et al. 2009 APC_000200 - - Germline (inherited) ? - DNA SSCA, SEQ - screen APC gene (index patient) FAP-1 Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - Spain - - - Yes - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del (?_30)_(*220_?)del whole allele r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Gómez-Fernández et al. 2009 APC_000200 - - Unknown ? - DNA SSCA, SEQ - screen APC gene (index patient) FAP-1 Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - Spain - - - No - 1 Stefan Aretz
+/+ P_1_18_ c.(?_-85)_(*1_?)del [?_30)_(*220_?)del whole allele r.0 p.0 deletion, large 1_15+promoter - deletion, large Unknown g.(?_112073556)_(112179824_?)del - Gómez-Fernández et al. 2009 APC_000200 - - Germline (inherited) ? - DNA SSCA, SEQ - screen APC gene (index patient) FAP-1 Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - Spain - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Mandl et al. 1996 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Friedl et al. 2001 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - Yes call (screening) 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Friedl et al. 2001 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes call (screening) 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes call (screening) 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - Yes colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Unknown ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - M Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - M Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - M Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes call (screening) 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Unknown ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - Yes call (screening) 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - F Germany - - - Yes colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Unknown ? - DNA SEQ leukocytes test known APC variant (relative) FAP-1 - M Germany - - - Yes colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz et al. 2005 APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No colorectal symptoms 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - M Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.35041-?_141606+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Aretz and Friedl (unpublished) APC_000531 - - Unknown ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - F Germany - - - No - 1 Stefan Aretz
+/+ _1i_18_ c.(?_-18-1)_(*1_?)del g.26940-?_133343+?del r.0 p.0 deletion, large _1_15_ - deletion, large Unknown g.(?_112090569)_(112179824_?)del - Kanter-Smoler et al. 2008 APC_000531 - - Germline (inherited) ? - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 Sweden, Gothenburg, Department of Molecular and Clinical Genetics, University of Gothenburg - Sweden - - - No - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? screen APC gene (index patient) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? screen APC gene (index patient) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
+/+ 3i_4i c.(-19+1_-18-1)_(135+1_136-1)del exon 4 deletion r.? p.0? deletion, large 4 - deletion, large Unknown g.(112073623_112090569)_(112090723_112102022)del - Soravia et al. 1998 APC_000534 - - Germline (inherited) ? - DNA RT-PCR, PTT, SEQ ? test known APC variant (relative) FAP-1 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - - Yes - 1 Stefan Aretz
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