Full data view for gene APC


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

5161 entries on 52 pages. Showing entries 1 - 100.
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Effect     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

CodonNr     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

Method     

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     
?/. _1 Promotor c.-30461T>G VUS r.(?) p.? - - 0.000 substitution screen APC gene (index patient) Parent #1 g.112043180T>G g.112707483T>G -47408T>G - APC_000418 numbering 5' of ATG - - - Unknown ? - - 0 - DNA SEQ ? - FAP-1 - - - - - (Germany) - - - ? - 1 Elke Holinski-Feder
?/? _1 Promotor c.-30361_-30360insG VUS r.(?) p.? - - - - screen APC gene (index patient) Parent #1 g.112043280_112043281insG g.112707583_112707584insG -47307insG - APC_000417 numbering 5' of ATG - - - Unknown ? - - 0 - DNA SEQ ? - FAP-1 - - - - - (Germany) - - - ? - 1 Elke Holinski-Feder
?/? _1 Promotor c.-30359C>G VUS r.(?) p.? - - - substitution screen APC gene (index patient) Parent #1 g.112043282C>G g.112707585C>G -47306C>G (5' of ATG) - APC_000415 numbering 5' of ATG - - - Unknown ? - - 0 - DNA SEQ ? - FAP-1 - - - - - (Germany) - - - ? - 1 Elke Holinski-Feder
?/? _1 Promotor c.-30340C>T VUS r.(?) p.? - - - substitution screen APC gene (index patient) Parent #1 g.112043301C>T g.112707604C>T -47287C>T - APC_000416 numbering 5' of ATG - - - Unknown ? - - 0 - DNA SEQ ? - FAP-1 - - - - - (Germany) - - - ? - 1 Elke Holinski-Feder
+/. P_1_3i promoter 1B c.-12246_-18-7285delinsTGCTCTATGACCAATT pathogenic r.(?) p.? - deletion, large - deletion, large unknown Paternal (confirmed) g.112061395_112083285delinsTGCTCTATGACCAATT g.112725697_112747588delinsTTGCTCTATGACCAATT g.112,061,394_112,083,285del 21,890 insTTGCTCTATGACCAATT - APC_001246 - - - - Germline ? - - 0 - DNA arrayCGH, MLPA, SEQ leukocytes - FAP-1 - - - M - Bulgaria - - - yes (pedigree) - 1 Tanya Kadiyska
+/. _1 - c.-190G>A pathogenic r.(?) p.(=) - - 0.000 substitution screen APC gene (index patient) Paternal (confirmed) g.112073451G>A - - - APC_001802 - - - - Germline - - - 0 - DNA SEQ - - FAP - - - F - United Kingdom (Great Britain) White - 0 - - 3 Emma Short
+/+ P_1_4i 1i+promoter c.(?_-85)_(135+1_136-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112090723_112102022)del - -85-?_135+?del - APC_000526 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_4i 1i+promoter c.(?_-85)_(135+1_136-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112090723_112102022)del - -85-?_135+?del - APC_000526 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_4i 1i+promoter c.(?_-85)_(135+1_136-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112090723_112102022)del - -85-?_135+?del - APC_000526 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_8i 1_5+promoter c.(?_-85)_(645+1_646-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112116601_112128142)del - -85-?_645+?del - APC_000527 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_8i 1_5+promoter c.(?_-85)_(645+1_646-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112116601_112128142)del - -85-?_645+?del - APC_000527 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_8i 1_5+promoter c.(?_-85)_(645+1_646-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112116601_112128142)del - -85-?_645+?del - APC_000527 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_8i 1_5+promotor c.(?_-85)_(645+1_646-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112116601_112128142)del - -85-?_645+?del - APC_000527 - PubMed: Nielsen et al. 2007a; PubMed: Nielsen et al. 2007b - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes - FAP-1 - - - M - Netherlands - - - ? - 1 Stefan Aretz
+/+ P_1_10i 1_7i+promoter c.(?_-85)_(834+1_835-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112137081_112151191)del - -85-?_834+?del - APC_000528 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_10i 1_7i+promoter c.(?_-85)_(834+1_835-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112137081_112151191)del - -85-?_834+?del - APC_000528 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_13i 1_10i+promoter c.(?_-85)_(1408+1_1409-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112157689_112162804)del - g.35041-?_119471+?del - APC_000529 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_13i 1_10i+promoter c.(?_-85)_(1408+1_1409-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112157689_112162804)del - g.35041-?_119471+?del - APC_000529 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_13i 1_10i+promoter c.(?_-85)_(1408+1_1409-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112157689_112162804)del - g.35041-?_119471+?del - APC_000529 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - whole gene deletion - APC_000200 Deletion entire APC gene PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA leukocytes - FAP-1 - - - F - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - cytogenetic deletion - APC_000200 cytogenetic deletion PubMed: Raedle et al. 2001 - - Unknown ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - cytogenetic deletion - APC_000200 cytogenetic deletion PubMed: Aretz et al. 2005 - - De novo ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - cytogenetic deletion - APC_000200 cytogenetic deletion PubMed: Aretz et al. 2005 - - De novo ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - cytogenetic deletion - APC_000200 cytogenetic deletion Aretz and Friedl (unpublished) - - Unknown ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_135250+?del - APC_000200 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Austria - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_135250+?del - APC_000200 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_135250+?del - APC_000200 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_135250+?del - APC_000200 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - De novo ? - - 0 - DNA MLPA, SEQ leukocytes - FAP-1 - - - M - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes - FAP-1 - - - M - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes - FAP-1 - - - - - Belgium - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Unknown ? - - 0 - DNA MLPA, SEQ leukocytes - FAP-1 - - - F - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes - FAP-1 - - - M - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes - FAP-1 - - - F - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - Carli Tops (unpublished) - - De novo ? - - 0 - DNA MLPA, SEQ leukocytes - FAP-1 - - - F - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - Carli Tops (unpublished) - - Germline ? - - 0 - DNA MLPA, SEQ leukocytes - FAP-1 - - - - - Netherlands - - - ? - 1 Carli Tops
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Rivera et al. 2010 - - Germline ? - - 0 - DNA SEQ - - FAP-1 - Spain, Madrid, Human Genetics Group, Human Cancer Genetics Programme, National Spanish Cancer Research Centre - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Rivera et al. 2010 - - De novo ? - - 0 - DNA SEQ - - FAP-1 - Spain, Madrid, Human Genetics Group, Human Cancer Genetics Programme, National Spanish Cancer Research Centre - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Rivera et al. 2010 - - De novo ? - - 0 - DNA SEQ - - FAP-1 - Spain, Madrid, Human Genetics Group, Human Cancer Genetics Programme, National Spanish Cancer Research Centre - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Aceto et al. 2005 - - Germline ? - - 0 - DNA HD, PTT, SSCA, DHPLC - - FAP-1 - Italy, Chieti, Department of Oncology and Neurosciences, University G. D'Annunzio - - - Italy - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - (?_30)_(*220_?)del whole allele - APC_000200 - PubMed: Gómez-Fernández et al. 2009 - - Germline ? - - 0 - DNA SSCA, SEQ - - FAP-1 - Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - - - Spain - - - yes (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - (?_30)_(*220_?)del whole allele - APC_000200 - PubMed: Gómez-Fernández et al. 2009 - - Unknown ? - - 0 - DNA SSCA, SEQ - - FAP-1 - Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112073556)_(112179824_?)del - [?_30)_(*220_?)del whole allele - APC_000200 - PubMed: Gómez-Fernández et al. 2009 - - Germline ? - - 0 - DNA SSCA, SEQ - - FAP-1 - Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - - - Spain - - - no (pedigree) - 1 Stefan Aretz
+/. P_1_18_ _15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 - deletion, large 0.000 deletion, large screen APC gene (index patient) Maternal (inferred) g.(?_112073556)_(112179824_?)del - - - APC_000200 - - - - Germline/De novo (untested) - - - 0 - DNA MCA, MLPA, PCR, SEQ Blood - FAP-1 - - Mother - colorectal cancer (63 years), aunt (m) - colorectal cancer (66 years) M - Russia - - 0 - - 1 Grigorij Yanus
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - F - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - DNA RT-PCR, PTT, SEQ ? - FAP-1 - Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital - M - Canada - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - PubMed: Pagenstecher et al. 2007 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - PubMed: Pagenstecher et al. 2007 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - PubMed: Pagenstecher et al. 2007 - - De novo ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative) Unknown g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - - - F - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(112073623_112090569)_(112090723_112102022)del - g.65185_65788del - APC_000534 - PubMed: Kanter-Smoler et al. 2008 - - Germline ? - - 0 - DNA SEQ leukocytes - FAP-1 - Sweden, Gothenburg, Department of Molecular and Clinical Genetics, University of Gothenburg - - - Sweden - - - no (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(112073623_112090569)_(112090723_112102022)del - 423-?_531+?del - APC_000534 - PubMed: Gómez-Fernández et al. 2009 - - De novo ? - - 0 - DNA SSCA, SEQ - - FAP-1 - Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - - - Spain - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(112073623_112090569)_(112090723_112102022)del - 423-?_531+?del - APC_000534 - PubMed: Gómez-Fernández et al. 2009 - - Germline ? - - 0 - DNA SSCA, SEQ - - FAP-1 - Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER - - - Spain - - - yes (pedigree) - 1 Stefan Aretz
+/+ 3i_10i 1_7i c.(-19+1_-18-1)_(834+1_835-1)del pathogenic r.? p.0? del deletion, large - deletion, large unknown Paternal (inferred) g.(112073623_112090569)_(112137081_112151191)del - - - APC_000738 - - - - Unknown ? - - 0 - DNA MLPA leukocytes - polyposis - - - F - Italy - - - ? - 1 Maurizio Genuardi
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient) Unknown g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - Vogt and Aretz (unpublished) - - Unknown ? - - 0 - DNA SEQ ? - FAP-1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
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