Full data view for gene BAP1

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

243 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     

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.-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 - 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.37+31G>C r.(=) p.(=) Parent #2 g.52443827C>G - BAP1_000031 - - - - - - - DNA SEQ-NG-I 1 BrCa - 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+46C>T r.(=) p.(=) Parent #2 g.52443684G>A - BAP1_000009 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Sitomena, Aetolia-Acarnania Maleyro, Aetolia-Acarnania - - - 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.68-43T>G r.(=) p.(=) Parent #2 g.52443667A>C - BAP1_000039 - - - - - - - DNA SEQ-NG-I 1 BrCa - M - - 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.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Sitomena, Aetolia-Acarnania Maleyro, Aetolia-Acarnania - - - 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.332C>T r.(?) p.(Thr111Ile) Parent #2 g.52442017G>A - BAP1_000078 - - - - - - - DNA SEQ-NG-I 1 BrCa - M - - 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.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Eora, Xanthi, Pomaks - 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.660-41C>T r.(=) p.(=) Parent #2 g.52440433G>A - BAP1_000080 - - - - - - - DNA SEQ-NG - Pheo - M Negades, Zagori Ioannina Greek - - 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.672C>T r.(=) p.(=) Parent #2 g.52440380G>A - BAP1_000077 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Plagiari, Pella & Kallipoli, Asia Minor - 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
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