Full data view for gene BAP1

Information The variants shown are described using the NM_004656.3 transcript reference sequence.

226 entries on 3 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     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-16G>A r.(=) p.(=) Parent #2 g.52443910C>T - BAP1_000032 - - - - DNA SEQ-NG-I 1 CMM3, CRC - M Constantinople Smyrna Greek no - 1 Despoina Kalfakakou
./. - c.37+19G>A r.(=) p.(=) Parent #2 g.52443839C>T - BAP1_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Phthiotis Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.37+26G>T r.(=) p.(=) Parent #2 g.52443832C>A - BAP1_000069 - - - - DNA SEQ-NG-I 1 OVCA - F Crete ─░zmir Greek no - 1 Despoina Kalfakakou
./. - c.37+31G>C r.(=) p.(=) Parent #2 g.52443827C>G - BAP1_000031 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Russia Greek no - 1 Despoina Kalfakakou
./. - c.37+31G>C r.(=) p.(=) Parent #2 g.52443827C>G - BAP1_000031 - - - - DNA SEQ-NG-I 1 BrCa - M Agia, Kydonia, Chania - Greek no - 1 Despoina Kalfakakou
./. - c.37+31G>C r.(=) p.(=) Parent #2 g.52443827C>G - BAP1_000031 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.37+31G>C r.(=) p.(=) Parent #2 g.52443827C>G - BAP1_000031 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.38-20C>T r.(=) p.(=) Parent #2 g.52443779G>A - BAP1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Skarfeia, Phthiotis Kolaka, Phthiotis Greek no - 1 Despoina Kalfakakou
./. - c.38-20C>T r.(=) p.(=) Parent #2 g.52443779G>A - BAP1_000016 - - - - DNA SEQ-NG-I 1 CAL - F Corinth - Greek no - 1 Despoina Kalfakakou
./. - c.67+33T>C r.(=) p.(=) Parent #2 g.52443697A>G - BAP1_000057 - - - - DNA SEQ-NG-I 1 CAL, HypPT, NDL, Pheo - M Nisyros Constantinople Greek no - 2 Despoina Kalfakakou
./. - c.67+46C>T r.(=) p.(=) Parent #2 g.52443684G>A - BAP1_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Sitomena, Aetolia-Acarnania Malevro, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.67+49T>G r.(=) p.(=) Parent #2 g.52443681A>C - BAP1_000008 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
./. - c.67+49T>G r.(=) p.(=) Parent #2 g.52443681A>C - BAP1_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Argolis Greek no - 1 Despoina Kalfakakou
./. - c.68-48A>T r.(=) p.(=) Parent #2 g.52443672T>A - BAP1_000007 - - - - DNA SEQ-NG-I 1 BrCa, CHL - F Erythres, Attica Region - Greek no - 1 Despoina Kalfakakou
./. - c.68-48A>T r.(=) p.(=) Parent #2 g.52443672T>A - BAP1_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Kos Gortynia Greek no - 2 Despoina Kalfakakou
./. - c.68-48A>T r.(=) p.(=) Parent #2 g.52443672T>A - BAP1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Mandra - Greek no - 1 Despoina Kalfakakou
./. - c.68-48A>T r.(=) p.(=) Parent #2 g.52443672T>A - BAP1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Iraio, Nafplio - Greek no - 4 Despoina Kalfakakou
./. - c.68-48A>T r.(=) p.(=) Parent #2 g.52443672T>A - BAP1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Izmir Greek no - 5 Despoina Kalfakakou
./. - c.68-43T>G r.(=) p.(=) Parent #2 g.52443667A>C - BAP1_000039 - - - - DNA SEQ-NG-I 1 OVCA - F Anogia, Rethimno Chrani, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.72C>A r.(=) p.(=) Parent #2 g.52443620G>T - BAP1_000073 - - - - DNA SEQ-NG-I 1 BrCa - F Philippines - Filipino no - 1 Despoina Kalfakakou
./. - c.121G>A r.(?) p.(Gly41Ser) Parent #2 g.52443571C>T - BAP1_000052 - - - - DNA SEQ-NG-I 1 RCC - M Rethimno, Crete Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.121G>A r.(?) p.(Gly41Ser) Both (homozygous) g.52443571C>T - BAP1_000052 - - - - DNA SEQ-NG-I 1 MNGM - M Asia Minor Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.122+12T>C r.(=) p.(=) Parent #2 g.52443558A>G - BAP1_000056 - - - - DNA SEQ-NG-I 1 NF - M Ano Pedina, Ioannina - Greek no - 2 Despoina Kalfakakou
./. - c.122+21_122+22insG r.(=) p.(=) Parent #2 g.52443548_52443549insC - BAP1_000043 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Paiania Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Ukraine - Ukrainian no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Messenia Arcadia Greek no - 3 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Thessaloniki - Greek no - 2 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 CRC - F Kranea, Elassona - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Agia, Rethymno Perama, Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Arta Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 SRCM - M Arta - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 PNCA2 - F Piraeus Limnos Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Levaia, Florina Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Volos Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Komnina, Phthiotis Chania Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Fier, Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.123-29G>T r.(=) p.(=) Parent #2 g.52442651C>A - BAP1_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.125C>T r.(?) p.(Pro42Leu) Parent #2 g.52442620G>A - BAP1_000061 - - - - DNA SEQ-NG-I 1 OVCA - F Epirus - Greek no - 1 Despoina Kalfakakou
./. - c.181A>T r.(?) p.(Lys61*) Parent #2 g.52442564T>A - BAP1_000051 - - - - DNA SEQ-NG-I 1 BrCa, CMM3, LuCa, MNGM - F - - Greek no - 1 Despoina Kalfakakou
./. - c.190A>G r.(?) p.(Thr64Ala) Parent #2 g.52442555T>C - BAP1_000030 - - - - DNA SEQ-NG-I 1 CRC, ENC, SkCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.285C>T r.(=) p.(=) Parent #2 g.52442064G>A - BAP1_000018 - - - - DNA SEQ-NG-I 1 BrCa, ENC - F Neochori, Domokos - Greek no - 2 Despoina Kalfakakou
./. - c.315C>T r.(=) p.(=) Parent #2 g.52442034G>A - BAP1_000026 - - - - DNA SEQ-NG-I 1 SIC - M Lefkada Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.333C>T r.(=) p.(=) Parent #2 g.52442016G>A - BAP1_000065 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.333C>T r.(=) p.(=) Parent #2 g.52442016G>A - BAP1_000065 - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.376-50C>T r.(=) p.(=) Parent #2 g.52441526G>A - BAP1_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.376-50C>T r.(=) p.(=) Parent #2 g.52441526G>A - BAP1_000017 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Elis Kalamata Greek no - 6 Despoina Kalfakakou
./. - c.376-50C>T r.(=) p.(=) Parent #2 g.52441526G>A - BAP1_000017 - - - - DNA SEQ-NG-I 1 ENC - F Athens Samos Greek no - 1 Despoina Kalfakakou
./. - c.376-50C>T r.(=) p.(=) Parent #2 g.52441526G>A - BAP1_000017 - - - - DNA SEQ-NG-I 1 PNCA2 - M Kritsa, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.376-50C>T r.(=) p.(=) Parent #2 g.52441526G>A - BAP1_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Chalkidiki Greek no - 1 Despoina Kalfakakou
./. - c.376-50C>T r.(=) p.(=) Parent #2 g.52441526G>A - BAP1_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti - Greek no - 1 Despoina Kalfakakou
./. - c.437+23_437+24insTGGGAGCTG r.(=) p.(=) Parent #2 g.52441391_52441392insCAGCTCCCA - BAP1_000045 - - - - DNA SEQ-NG-I 1 OVCA - F Karavas, Cyprus Chios Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 - - F Elassona, Larisa - Greek no - 2 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Aiani, Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Aigio Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Achaia - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Mani Neochori, Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Livadeia - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 CAL, NF - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 PrCa - M Euboea Attika Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 PNCA2 - F Asia Minor Athens Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Leonidio, Arcadia Crisorachi, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Evros - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Elassona, Larisa Livera, Kozani Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Gryllos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.580+31T>G r.(=) p.(=) Parent #2 g.52441159A>C - BAP1_000033 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.659+17T>A r.(=) p.(=) Parent #2 g.52440828A>T - BAP1_000050 - - - - DNA SEQ-NG-I 1 - - F Ilia Amarynthos, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.659+22T>A r.(=) p.(=) Parent #2 g.52440823A>T - BAP1_000072 - - - - DNA SEQ-NG-I 1 BrCa - F Philippines - Filipino no - 1 Despoina Kalfakakou
./. - c.660-40G>A r.(=) p.(=) Parent #2 g.52440432C>T - BAP1_000060 - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Crete Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene Athens Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa - M Narte Vlore, Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa, CRC, TRC - F Elis Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 CRC - M Athens - Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 CRC - F Makrakomi, Phthiotis Achladini , Ilia Greek no - 2 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Frousouna, Argolis Artemisio, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki Xanthi Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Malantreni, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Ageliana, Rethymn Livadia, Rethymn Greek no - 1 Despoina Kalfakakou
./. - c.660-26T>A r.(=) p.(=) Parent #2 g.52440418A>T - BAP1_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Lias, Thesprotia Kritsa, Lasithi Greek no - 1 Despoina Kalfakakou
./. - c.705C>T r.(=) p.(=) Parent #2 g.52440347G>A - BAP1_000029 - - - - DNA SEQ-NG-I 1 CRC - F Ireland Huddersfield, UK Irish no - 1 Despoina Kalfakakou
./. - c.720G>A r.(=) p.(=) Parent #2 g.52440332C>T - BAP1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Milos - Greek no - 3 Despoina Kalfakakou
./. - c.720G>A r.(=) p.(=) Parent #2 g.52440332C>T - BAP1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Milos - Greek no - 1 Despoina Kalfakakou
./. - c.783G>A r.(=) p.(=) Parent #2 g.52440269C>T - BAP1_000038 rs35003777 - - - DNA SEQ-NG-I 1 OVCA - F Anogia, Rethimno Chrani, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.783G>A r.(=) p.(=) Parent #2 g.52440269C>T - BAP1_000038 rs35003777 - - - DNA SEQ-NG-I 1 BrCa - F Volos Samiko, Elis Greek no - 1 Despoina Kalfakakou
./. - c.783+2T>C r.spl? p.? Parent #2 g.52440267A>G - BAP1_000058 - - - - DNA SEQ-NG-I 1 CAL, NF - F Uzbekistan Georgia Greek no - 2 Despoina Kalfakakou
./. - c.783+12T>G r.(=) p.(=) Parent #2 g.52440257A>C - BAP1_000027 - - - - DNA SEQ-NG-I 1 CRC, Polyposis - F Klisto, Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.783+15T>G r.(=) p.(=) Parent #2 g.52440254A>C - BAP1_000048 - - - - DNA SEQ-NG-I 1 CAL, GIST, NF, Pheo - F Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.944A>C r.(?) p.(Glu315Ala) Parent #2 g.52439298T>G - BAP1_000041 - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
./. - c.944A>C r.(?) p.(Glu315Ala) Parent #2 g.52439298T>G - BAP1_000041 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Serres - Greek no - 1 Despoina Kalfakakou
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