Full data view for gene BRCA1

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

1207 entries on 13 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
?/? - c.-19-27T>G r.(=) p.(=) Parent #2 g.41276159A>C - BRCA1_000068 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
?/? - c.-19-27T>G r.(=) p.(=) Parent #2 g.41276159A>C - BRCA1_000068 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
?/? - c.-19-27T>G r.(=) p.(=) Parent #2 g.41276159A>C - BRCA1_000068 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavala Asia Minor Thera Greek no - 1 Despoina Kalfakakou
?/? - c.-19-23T>C r.(=) p.(=) Parent #2 g.41276155A>G - BRCA1_000067 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
?/? - c.-19-23T>C r.(=) p.(=) Parent #2 g.41276155A>G - BRCA1_000067 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
?/? - c.-19-23T>C r.(=) p.(=) Parent #2 g.41276155A>G - BRCA1_000067 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavala Asia Minor Thera Greek no - 1 Despoina Kalfakakou
+/+ 1_2 c.(?) r.(?) p.(?) Maternal (confirmed) g.(41267773_41276097)_(41278204_41282088)del - BRCA1_000229 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - BRCA1 exons 1-2 deletion - - DNA MLPA 0 BrCa - F Messinia - Greek no - 4 Despoina Kalfakakou
+/+ 1_2 c.(?) r.(?) p.(?) Parent #2 g.(41267773_41276097)_(41278204_41282088)del - BRCA1_000229 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - BRCA1 exons 1-2 deletion - - DNA MLPA 0 TRC - F Poulitsio, Messinia Manesi, Messinia Greek no - 3 Despoina Kalfakakou
+/+ 1_2 c.(?) r.(?) p.(?) Parent #2 g.(41267773_41276097)_(41278204_41282088)del - BRCA1_000229 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - BRCA1 exons 1-2 deletion - - DNA MLPA 0 Healthy/Control - F Poulitsio, Messinia Manesi, Messinia Greek no - 3 Despoina Kalfakakou
?/? - c.5406+5 G>C r.(?) p.() Unknown g.41201133G>C - BRCA1_000018 rs80358073 - Germline - - - - DNA SEQ 1 BrCa - F Antalya, Turkey Euboea - - - 3 Stevi Xera
?/? - c.5406+5 G>C r.(?) p.() Maternal (confirmed) g.41201133G>C - BRCA1_000018 rs80358073 - Germline - - - - DNA SEQ 1 Healthy/Control - F Corfu Antalya, Turkey & Euboea - - - 3 Stevi Xera
?/? - c.5406+5 G>C r.(?) p.() Maternal (confirmed) g.41201133G>C - BRCA1_000018 rs80358073 - Germline - - - - DNA SEQ 1 Healthy/Control - M Corfu Antalya, Turkey & Euboea - - - 3 Stevi Xera
+/+ - c.1A>G r.? p.? Parent #2 g.41276113T>C - BRCA1_000128 rs80357287 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Artemisio, Euboea Galatsades, Euboea Greek no - 3 Despoina Kalfakakou
+/+ - c.34C>T r.(?) p.(Gln12*) Parent #2 g.41276080G>A - BRCA1_000216 rs80357134 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata Ä°zmir Greek no - 1 Despoina Kalfakakou
+/+ - c.65T>A r.(?) p.(Leu22*) Parent #2 g.41276049A>T - BRCA1_000224 rs80357438 - Germline - - - - DNA SEQ 1 OVCA - F Piraeus Athens Greek no - 3 Despoina Kalfakakou
+/+ - c.66_67del r.(?) p.(Glu23Valfs*17) Parent #2 g.41276047_41276048del - BRCA1_000076 rs80357914 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Russia Pyrgos, Elis Greek no - 2 Despoina Kalfakakou
+/+ - c.66_67del r.(?) p.(Glu23Valfs*17) Maternal (inferred) g.41276047_41276048del - BRCA1_000076 rs80357914 - Germline ? - - - DNA SEQ 1 BrCa, OVCA - F France - French no - 1 Despoina Kalfakakou
+/+ - c.66_67del r.(?) p.(Glu23Valfs*17) Parent #2 g.41276045_41276046del - BRCA1_000076 rs80357914 - Germline ? - - - DNA SEQ-NG 0 BrCa, PANCA - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.66_67del r.(?) p.(Glu23Valfs*17) Maternal (confirmed) g.41276047_41276048del - BRCA1_000076 rs80357914 - Germline ? - - - DNA SEQ 0 Healthy/Control - F Athens Corfu Greek no - 1 Despoina Kalfakakou
-?/-? - c.75C>A r.(=) p.(=) Parent #2 g.41276039G>T - BRCA1_000140 rs80356839 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
-/- - c.81-14C>T r.(=) p.(=) Parent #2 g.41267810G>A - BRCA1_000093 rs80358006 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Rethymno Greek no - 1 Despoina Kalfakakou
?/? - c.135-50C>G r.(=) p.(=) Parent #2 g.41258600G>C - BRCA1_000016 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.135-40A>T r.(=) p.(=) Parent #2 g.41258590T>A - BRCA1_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
?/? - c.135-40A>T r.(=) p.(=) Parent #2 g.41258590T>A - BRCA1_000020 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Ioannina - Greek no - 1 Despoina Kalfakakou
?/? - c.135-23C>A r.(=) p.(=) Parent #2 g.41258573G>T - BRCA1_000132 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.150del r.(?) p.(Lys50Asnfs*19) Parent #2 g.41258535del - BRCA1_000036 rs273897662 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mylopotamos, Rethymno - Greek no - 1 Despoina Kalfakakou
+/+ - c.150del r.(?) p.(Lys50Asnfs*19) Parent #2 g.41258535del - BRCA1_000036 rs273897662 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nikaia Crete Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 OVCA - F Messenia Arcadia Greek no - 3 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 OVCA - F Tithorea, Livadia Edessa Greek no - 3 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 BrCa, OVCA - F Thessaloniki - Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 BrCa - F Kalymnos Naxos Greek no - 5 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 BrCa - F Athikia, Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (inferred) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 1 BrCa - F - - Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (inferred) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 BrCa - F Konitsa - Greek no - 3 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 Healthy/Control - M Konitsa - Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 BrCa - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 BrCa - F Phthiotis - Greek no - 3 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 Healthy/Control - F Phthiotis - Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (inferred) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 OVCA - F Phthiotis - Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (inferred) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 BrCa - F Kalavryta Gytheio Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 1 BrCa - F Rethymno Agrinio Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Paternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 1 BrCa - F Pyrgos, Elis - Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 Healthy/Control - M Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 Healthy/Control - F Lasithi - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Paternal (inferred) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 1 BrCa - F Kea Athens Greek no - 3 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 1 BrCa, OVCA - F Pyrgos, Elis Gortynia, Achaia Greek no - 4 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 Healthy/Control - M Pyrgos, Elis Gortynia, Achaia Greek no - 3 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Paternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 BrCa - F Vartholomio, Elis Michoio, Achaia Greek no - 4 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 Healthy/Control - M Vartholomio, Elis - Greek no - 4 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 1 BrCa, OVCA - F Olympia Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Paternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 BrCa - F Kiato, Corinth - Greek no - 4 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 BrCa - F Poulitsa, Corinth Kiato, Corinth Greek no - 4 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Paternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 Healthy/Control - F Lefkada Asia Minor Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Paternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 Healthy/Control - F Chortiatis, Thessaloniki - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ-NG-I 1 BrCa - F Lasithi - Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline ? C61G - - DNA SEQ 0 Healthy/Control - F Athens Tripoli Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (confirmed) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ 0 Healthy/Control - F Tithorea, Livadia Edessa Greek no - 2 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Paternal (inferred) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ 1 OVCA - F Corfu Tripoli, Arcadia Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Paternal (inferred) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ 1 OVCA - F Corfu - Greek no - 1 Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) Maternal (inferred) g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - DNA SEQ 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) Parent #2 g.41258504A>C - BRCA1_000014 rs28897672 - - - - - - DNA SEQ-NG-I 1 BrCa - F Germany Pyrgos , Elis - - - 2 Stevi Xera
+/+ - c.190T>C r.(?) p.(Cys64Arg) Parent #2 g.41258495A>G - BRCA1_000221 rs80357064 - Germline - - - - DNA SEQ 1 OVCA - F Katsaros, Messenia - Greek no - 2 Despoina Kalfakakou
-?/-? - c.212+15A>G r.(=) p.(=) Parent #2 g.41258458T>C - BRCA1_000066 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno Asia Minor Greek no - 3 Despoina Kalfakakou
+/+ - c.224_227del r.(?) p.(Glu75Valfs*12) Parent #2 g.41256959_41256962del - BRCA1_000190 rs80357697 - Germline ? - - - DNA SEQ 0 BrCa - F Liti, Thessaloniki - Greek no - 2 Despoina Kalfakakou
+?/+? - c.245T>C r.(?) p.(Leu82Pro) Parent #2 g.41256941A>G [Konstantopoulou et al (2014)] BRCA1_000201 - - Germline ? - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Serres Greek no - 2 Despoina Kalfakakou
-/- - c.301+7G>A r.(=) p.(=) Parent #2 g.41256878C>T - BRCA1_000086 rs80358113 - Germline ? - - - DNA SEQ 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.301+7G>A r.(=) p.(=) Parent #2 g.41256878C>T - BRCA1_000086 rs80358113 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Eastern Trace Eastern Rumelia Greek no - 1 Despoina Kalfakakou
-/- - c.301+7G>A r.(=) p.(=) Parent #2 g.41256878C>T - BRCA1_000086 rs80358113 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Grevena - Greek no - 1 Despoina Kalfakakou
-/- - c.301+7G>A r.(=) p.(=) Parent #2 g.41256878C>T - BRCA1_000086 rs80358113 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
-/- - c.301+7G>A r.(=) p.(=) Parent #2 g.41256878C>T - BRCA1_000086 rs80358113 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
?/? - c.302-51C>G r.(=) p.(=) Parent #2 g.41256329G>C - BRCA1_000145 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Cyprus - Greek no - 1 Despoina Kalfakakou
+/+ - c.302-2A>G r.spl? p.? Parent #2 g.41256280T>C - BRCA1_000184 rs80358011 - Germline ? - - - DNA SEQ-NG-I 1 BrCa - F Amfissa Athens Greek no - 2 Despoina Kalfakakou
+/+ - c.302-2A>G r.spl? p.? Parent #2 g.41256280T>C - BRCA1_000184 rs80358011 - Germline ? - - - DNA SEQ 0 Healthy/Control - F Amfissa Athens Greek no - 1 Despoina Kalfakakou
+/+ - c.302-1G>C r.spl? p.? Parent #2 g.41256279C>G - BRCA1_000078 rs80358116 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
+/+ - c.329dupA r.(?) p.(Glu111Glyfs*3) Paternal (confirmed) g.41256251dupT - BRCA1_000225 rs80357604 - Germline ? - - - DNA SEQ 1 OVCA - F Xanthi, Pomaks - Greek no - 4 Despoina Kalfakakou
+/+ - c.329dupA r.(?) p.(Glu111Glyfs*3) Parent #2 g.41256251dupT - BRCA1_000225 rs80357604 - Germline - - - - DNA SEQ 0 Healthy/Control - M - - - no - 1 Despoina Kalfakakou
+/+ - c.329dupA r.(?) p.(Glu111Glyfs*3) Maternal (confirmed) g.41256251dupT - BRCA1_000225 rs80357604 - Germline - - - - DNA SEQ 0 Healthy/Control - F - - - no - 1 Despoina Kalfakakou
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3) Parent #2 g.41256250_41256251insT - BRCA1_000013 rs80357604 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 3 Despoina Kalfakakou
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3) Maternal (confirmed) g.41256250_41256251insT - BRCA1_000013 rs80357604 - Germline - - - - DNA SEQ 0 Healthy/Control - M - - Greek no - 2 Despoina Kalfakakou
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3) Parent #2 g.41256250_41256251insT - BRCA1_000013 rs80357604 - Germline - - - - DNA SEQ 1 OVCA - F Veria - Greek no - 3 Despoina Kalfakakou
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3) Maternal (confirmed) g.41256250_41256251insT - BRCA1_000013 rs80357604 - Germline - - - - DNA SEQ 1 Healthy/Control - F Naousa - Greek no - 2 Despoina Kalfakakou
+/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3) Maternal (confirmed) g.41256250_41256251insT - BRCA1_000013 rs80357604 - Germline - - - - DNA SEQ 0 Healthy/Control - F Naousa - Greek no - 2 Despoina Kalfakakou
+/+ - c.331del r.(?) p.(Glu111Lysfs*8) Parent #2 g.41256249del - BRCA1_000057 rs886040114 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Athens Rafina Greek no - 1 Despoina Kalfakakou
+/+ - c.331del r.(?) p.(Glu111Lysfs*8) Maternal (inferred) g.41256249del - BRCA1_000057 rs886040114 - Germline ? - - - DNA SEQ 1 BrCa - F Koropi - Greek no - 4 Despoina Kalfakakou
+/+ - c.331del r.(?) p.(Glu111Lysfs*8) Maternal (inferred) g.41256249del - BRCA1_000057 rs886040114 - Germline ? - - - DNA SEQ 0 LuCa - M Koropi - Greek no - 3 Despoina Kalfakakou
+/+ - c.331del r.(?) p.(Glu111Lysfs*8) Maternal (confirmed) g.41256249del - BRCA1_000057 rs886040114 - Germline ? - - - DNA SEQ 0 Healthy/Control - F Koropi - Greek no - 3 Despoina Kalfakakou
?/? - c.430A>T r.(?) p.(Asn144Tyr) Parent #2 g.41256150T>A - BRCA1_000113 - - Germline - - - - DNA SEQ-NG-I 1 TRC - F Rethimno, Crete Karditsa Greek no - 1 Despoina Kalfakakou
?/? - c.441+28T>C r.(=) p.(=) Parent #2 g.41256111A>G - BRCA1_000156 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kokkino Chorio, Chania Gavalohori, Chania Greek no - 1 Despoina Kalfakakou
-/- - c.441+33_441+49del r.(=) p.(=) Parent #2 g.41256090_41256106del - BRCA1_000139 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Halki Thessalia & Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 CRC, ENC, SkCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Athens Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Bulgaria Romania Romanian no - 1 Despoina Kalfakakou
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