Full data view for gene CEP57

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

123 entries on 2 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.-33C>A r.(=) p.(=) Parent #2 g.95523830C>A - CEP57_000025 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vavouri, Thesprotia - Greek no - 4 Despoina Kalfakakou
?/? - c.44C>T r.(?) p.(Ser15Leu) Parent #2 g.95523906C>T - CEP57_000011 rs1377080839 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Florina - Greek no - 1 Despoina Kalfakakou
?/? - c.46-43T>C r.(=) p.(=) Parent #2 g.95532353T>C - CEP57_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC, TRC - F Elis Constantinople Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Evia Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lamia - Greek no - 4 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trikala Arcadia Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Andros Athens Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Iraio, Nafplio - Greek no - 4 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 CRC - M Athanasios Diakos, Phocis - Greek no - 2 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kavasida, Elis Nafpaktos Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Xanthi - Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta - Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 TRC - F Agia Triada, Argolis Neo Roino, Argolis Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Corinth - Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Karpenisi Greek no - 1 Despoina Kalfakakou
?/? - c.46-21A>G r.(=) p.(=) Parent #2 g.95532375A>G - CEP57_000005 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Evrytania  - Greek no - 3 Despoina Kalfakakou
-?/-? - c.46-8T>A r.(=) p.(=) Parent #2 g.95532388T>A - CEP57_000013 rs755051766 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - Chania Greek no - 1 Despoina Kalfakakou
-?/-? - c.46-8T>A r.(=) p.(=) Parent #2 g.95532388T>A - CEP57_000013 rs755051766 - Germline - - - - DNA SEQ-NG-I 1 AGCa, CRC - F Volos Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.46-8T>A r.(=) p.(=) Parent #2 g.95532388T>A - CEP57_000013 rs755051766 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kilkis Serres Greek no - 1 Despoina Kalfakakou
-?/-? - c.46-8T>A r.(=) p.(=) Parent #2 g.95532388T>A - CEP57_000013 rs755051766 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.49A>G r.(?) p.(Ser17Gly) Parent #2 g.95532399A>G - CEP57_000032 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
?/? - c.88C>T r.(?) p.(Arg30Trp) Parent #2 g.95532438C>T - CEP57_000016 rs749693319 - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Constantinople - Greek no - 1 Despoina Kalfakakou
?/? - c.91C>A r.(?) p.(His31Asn) Parent #2 g.95532441C>A - CEP57_000010 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trikala Arcadia Greek no - 1 Despoina Kalfakakou
-?/-? - c.95C>T r.(?) p.(Ser32Phe) Parent #2 g.95532445C>T - CEP57_000035 rs139110744 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.136C>T r.(?) p.(Leu46Phe) Parent #2 g.95532486C>T - CEP57_000017 rs1180691016 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andros - Greek no - 1 Despoina Kalfakakou
?/? - c.260G>A r.(?) p.(Arg87Lys) Parent #2 g.95546153G>A - CEP57_000042 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eora, Xanthi, Pomaks - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Filiatra, Messinia Zacharo, Elis Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Galatas, Troizinia Athens Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Volos - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eastern Thrace - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Veroia Hydra Preveza Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Nea Figaleia, Elis Cypriot no - 5 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Volos Markopoulo, Attica Region Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Vertitskos, Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Akrata, Achaea - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kiato Chania Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Nafplion - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus ─░stanbul Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Moldova - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Skepasto, Thessaloniki Therma, Serres Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chios - Greek no - 1 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thrace Thessaloniki Greek no - 3 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Daimonia, Laconia Floka, Laconia Greek no - 3 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Fournoi, Icaria Cyprus Chios Greek no - 2 Despoina Kalfakakou
-/- - c.333G>C r.(?) p.(Gln111His) Parent #2 g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - DNA SEQ-NG-I 1 ENC - F Gouria, Messolonghi Stamna, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
?/? - c.383-15A>G r.(=) p.(=) Parent #2 g.95546617A>G - CEP57_000044 - - Germline - - - - DNA SEQ-NG-I 1 ColPol, GaPol - F Pelion Volos - - - 1 Despoina Kalfakakou
?/? - c.457A>G r.(?) p.(Met153Val) Parent #2 g.95546706A>G - CEP57_000023 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Avlonari, Evia - Greek no - 1 Despoina Kalfakakou
?/? - c.457A>G r.(?) p.(Met153Val) Parent #2 g.95546706A>G - CEP57_000023 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gargalianoi Messenia Athens & Kalavryta Greek no - 1 Despoina Kalfakakou
?/? - c.471C>A r.(=) p.(=) Parent #2 g.95546720C>A - CEP57_000036 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
?/? - c.476T>G r.(?) p.(Met159Arg) Parent #2 g.95546725T>G - CEP57_000037 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
?/? - c.504+39T>C r.(=) p.(=) Parent #2 g.95546792T>C - CEP57_000022 rs78294334 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra Galatas, Messolonghi Greek no - 1 Despoina Kalfakakou
?/? - c.504+39T>C r.(=) p.(=) Parent #2 g.95546792T>C - CEP57_000022 rs78294334 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
?/? - c.504+39T>C r.(=) p.(=) Parent #2 g.95546792T>C - CEP57_000022 rs78294334 - Germline - - - - DNA SEQ-NG-I 1 OVCA, TRC - F Nea Lampsakos, Euboea & Mytikas, Preveza Lampsakos, Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.510C>G r.(=) p.(=) Both (homozygous) g.95550956C>G - CEP57_000008 rs201373134 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Thasos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.510C>G r.(=) p.(=) Parent #2 g.95550956C>G - CEP57_000008 rs201373134 - Germline - - - - DNA SEQ-NG-I 1 CRC, Polyposis - M Drama - Greek no - 1 Despoina Kalfakakou
-?/-? - c.510C>G r.(=) p.(=) Parent #2 g.95550956C>G - CEP57_000008 rs201373134 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Greeks of Georgia - Greek no - 1 Despoina Kalfakakou
?/? - c.621+43G>T r.(=) p.(=) Parent #2 g.95551110G>T - CEP57_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Marathonas Athens Greek no - 2 Despoina Kalfakakou
?/? - c.621+43G>T r.(=) p.(=) Parent #2 g.95551110G>T - CEP57_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 3 Despoina Kalfakakou
?/? - c.621+43G>T r.(=) p.(=) Parent #2 g.95551110G>T - CEP57_000003 - - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Zarakes, Euboea Almyropotamos, Euboea Greek no - 2 Despoina Kalfakakou
?/? - c.621+43G>T r.(=) p.(=) Parent #2 g.95551110G>T - CEP57_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Galaxidi, Phocis Trizonia, Phocis Greek no - 1 Despoina Kalfakakou
?/? - c.621+43G>T r.(=) p.(=) Parent #2 g.95551110G>T - CEP57_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Serres Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.621+43G>T r.(=) p.(=) Parent #2 g.95551110G>T - CEP57_000003 - - Germline - - - - DNA SEQ-NG-I 1 NF - M Rethimno, Crete Vilia, Attika Greek no - 1 Despoina Kalfakakou
?/? - c.655_657del r.(?) p.(Glu221del) Parent #2 g.95552024_95552026del - CEP57_000038 rs746863051 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.699+44G>A r.(=) p.(=) Parent #2 g.95552112G>A - CEP57_000018 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, FM-SR - F Sitia - Greek no - 1 Despoina Kalfakakou
?/? - c.699+44G>A r.(=) p.(=) Parent #2 g.95552112G>A - CEP57_000018 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.699+44G>A r.(=) p.(=) Parent #2 g.95552112G>A - CEP57_000018 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F England - Greek no - 1 Despoina Kalfakakou
?/? - c.700-50T>A r.(=) p.(=) Parent #2 g.95554985T>A - CEP57_000024 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Kremastos, Kymi Mytikas, Lilantia, Evia Greek no - 7 Despoina Kalfakakou
?/? - c.700-19A>C r.(=) p.(=) Parent #2 g.95555016A>C - CEP57_000019 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
?/? - c.701T>G r.(?) p.(Leu234Trp) Parent #2 g.95555036T>G - CEP57_000004 rs750192070 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Agios Nikolaos, Lasithi - Greek no - 1 Despoina Kalfakakou
?/? - c.751C>T r.(?) p.(Pro251Ser) Parent #2 g.95555086C>T - CEP57_000014 rs149293164 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Skafidia, Ilia Nea Manolada, Ilia Greek no - 1 Despoina Kalfakakou
?/? - c.751C>T r.(?) p.(Pro251Ser) Parent #2 g.95555086C>T - CEP57_000014 rs149293164 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Daimonia, Laconia Sikia, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.777_778insA r.(?) p.(Lys263Glufs*11) Parent #2 g.95555112_95555113insA - CEP57_000045 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
-/- - c.807+3G>A r.spl? p.? Parent #2 g.95555145G>A - CEP57_000031 rs181776180 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.807+16C>A r.(=) p.(=) Parent #2 g.95555158C>A - CEP57_000030 - - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Athens Florina Greek no - 1 Despoina Kalfakakou
?/? - c.807+16C>A r.(=) p.(=) Parent #2 g.95555158C>A - CEP57_000030 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nafpaktos Volos Greek no - 1 Despoina Kalfakakou
?/? - c.808-49_808-48insA r.(=) p.(=) Parent #2 g.95555614_95555615insA - CEP57_000043 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.808-45A>G r.(=) p.(=) Parent #2 g.95555618A>G - CEP57_000028 - - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Samsun, Pontus Burgas, Bulgaria Greek no - 1 Despoina Kalfakakou
?/? - c.885+51T>C r.(=) p.(=) Parent #2 g.95555791T>C - CEP57_000034 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.886-51G>T r.(=) p.(=) Parent #2 g.95560899G>T - CEP57_000015 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Symi Kos Greek no - 3 Despoina Kalfakakou
?/? - c.886-50T>C r.(=) p.(=) Parent #2 g.95560900T>C - CEP57_000020 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Chios - Greek no - 4 Despoina Kalfakakou
?/? - c.886-49_886-48insT r.(=) p.(=) Parent #2 g.95560901_95560902insT - CEP57_000039 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1008A>G r.(=) p.(=) Parent #2 g.95561072A>G - CEP57_000040 rs933546735 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ageliana, Rethymn Livadia, Rethymn Greek no - 1 Despoina Kalfakakou
-?/-? - c.1008A>G r.(=) p.(=) Parent #2 g.95561072A>G - CEP57_000040 rs933546735 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
?/? - c.1080G>T r.(?) p.(Leu360Phe) Parent #2 g.95561144G>T - CEP57_000009 rs201285476 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Elis Kalamata Greek no - 6 Despoina Kalfakakou
?/? - c.1080G>T r.(?) p.(Leu360Phe) Parent #2 g.95561144G>T - CEP57_000009 rs201285476 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Korakovouni, Arcadia - Greek no - 1 Despoina Kalfakakou
?/? - c.1128-40C>T r.(=) p.(=) Parent #2 g.95562311C>T - CEP57_000001 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Krapsi, Ioannina - Greek no - 2 Despoina Kalfakakou
?/? - c.1128-40C>T r.(=) p.(=) Parent #2 g.95562311C>T - CEP57_000001 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Athens Greek no - 1 Despoina Kalfakakou
?/? - c.1128-40C>T r.(=) p.(=) Parent #2 g.95562311C>T - CEP57_000001 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Peloponnese Greek no - 1 Despoina Kalfakakou
?/? - c.1128-40C>T r.(=) p.(=) Parent #2 g.95562311C>T - CEP57_000001 - - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Volos Athens Greek no - 2 Despoina Kalfakakou
?/? - c.1128-40C>T r.(=) p.(=) Parent #2 g.95562311C>T - CEP57_000001 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Skafidia, Ilia Nea Manolada, Ilia Greek no - 1 Despoina Kalfakakou
?/? - c.1128-40C>T r.(=) p.(=) Parent #2 g.95562311C>T - CEP57_000001 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Geraneia, Elassona - Greek no - 1 Despoina Kalfakakou
?/? - c.1128-40C>T r.(=) p.(=) Parent #2 g.95562311C>T - CEP57_000001 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agia, Chania - Greek no - 1 Despoina Kalfakakou
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