Full data view for gene RHBDF2

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

223 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.95C>T r.(?) p.(Pro32Leu) Parent #2 g.74477512G>A - RHBDF2_000038 rs767534962 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arta Ioannina Greek no - 1 Despoina Kalfakakou
?/? - c.112A>G r.(?) p.(Thr38Ala) Parent #2 g.74477495T>C - RHBDF2_000072 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tourkolekas, Arcadia - Greek no - 1 Despoina Kalfakakou
?/? - c.129G>A r.(=) p.(=) Parent #2 g.74477478C>T - RHBDF2_000033 rs200918444 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Skopelos - Greek no - 1 Despoina Kalfakakou
?/? - c.150+24C>A r.(=) p.(=) Parent #2 g.74477433G>T - RHBDF2_000053 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.151-35A>T r.(=) p.(=) Parent #2 g.74475971T>A - RHBDF2_000058 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mazi , Konitsa - Greek no - 1 Despoina Kalfakakou
?/? - c.151-7C>G r.(=) p.(=) Parent #2 g.74475943G>C - RHBDF2_000059 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vianos, Heraklion Patra Greek no - 1 Despoina Kalfakakou
?/? - c.152G>C r.(?) p.(Arg51Thr) Parent #2 g.74475935C>G - RHBDF2_000073 rs145785567 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eora, Xanthi, Pomaks - Greek no - 1 Despoina Kalfakakou
?/? - c.178G>A r.(?) p.(Val60Ile) Parent #2 g.74475909C>T - RHBDF2_000022 rs141169581 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Ireland Huddersfield, UK Irish no - 1 Despoina Kalfakakou
?/? - c.272+10C>G r.(=) p.(=) Parent #2 g.74475805G>C - RHBDF2_000019 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eastern Thrace - Greek no - 1 Despoina Kalfakakou
?/? - c.273-52T>G r.(=) p.(=) Parent #2 g.74475411A>C - RHBDF2_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Evrytania Greek no - 1 Despoina Kalfakakou
?/? - c.300C>T r.(=) p.(=) Parent #2 g.74475332G>A - RHBDF2_000011 rs751973988 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Crete Ermioni Greek no - 1 Despoina Kalfakakou
?/? - c.304G>A r.(?) p.(Asp102Asn) Parent #2 g.74475328C>T - RHBDF2_000060 rs150978674 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Samos Peloponnese Greek no - 1 Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) Parent #2 g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) Parent #2 g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mani - Greek no - 1 Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) Parent #2 g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Myrsini, Laconia Finiki, Thesprotia Greek no - 1 Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) Parent #2 g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mani Kymi, Evia Greek no - 1 Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) Parent #2 g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - DNA SEQ-NG-I 1 TRC - F Rethimno, Crete Karditsa Greek no - 1 Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) Parent #2 g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Livanates, Phthiotis Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.327G>T r.(?) p.(Gln109His) Parent #2 g.74475305C>A - RHBDF2_000020 rs763124357 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC, GC - M Santorini - Greek no - 1 Despoina Kalfakakou
?/? - c.337C>T r.(?) p.(Arg113Cys) Parent #2 g.74475295G>A - RHBDF2_000044 rs748232908 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.362G>T r.(?) p.(Arg121Leu) Parent #2 g.74475270C>A - RHBDF2_000055 rs976300735 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
?/? - c.371G>A r.(?) p.(Arg124His) Parent #2 g.74475261C>T - RHBDF2_000004 rs766606016 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Tilos Ioannina Greek no - 1 Despoina Kalfakakou
?/? - c.389A>T r.(?) p.(Gln130Leu) Parent #2 g.74475243T>A - RHBDF2_000074 rs1200366741 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.391C>T r.(?) p.(Arg131Cys) Parent #2 g.74475241G>A - RHBDF2_000046 rs751482282 - Germline - - - - DNA SEQ-NG-I 1 - - F Corinthia - Greek no - 1 Despoina Kalfakakou
?/? - c.423G>A r.(=) p.(=) Parent #2 g.74475209C>T - RHBDF2_000051 rs773372003 - Germline - - - - DNA SEQ-NG-I 1 SIC - F Pontus Sürmene, Pontus Greek no - 1 Despoina Kalfakakou
?/? - c.459G>A r.(=) p.(=) Parent #2 g.74475173C>T - RHBDF2_000039 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Trikala Agios Vissarion,Trikala Greek no - 1 Despoina Kalfakakou
-/- - c.510G>A r.(=) p.(=) Parent #2 g.74475050C>T - RHBDF2_000063 rs140265206 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Evraiki, Chios Volos Greek no - 1 Despoina Kalfakakou
-/- - c.510G>A r.(=) p.(=) Parent #2 g.74475050C>T - RHBDF2_000063 rs140265206 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mikri Milia, Pieria - Greek no - 1 Despoina Kalfakakou
-/- - c.546G>A r.(=) p.(=) Parent #2 g.74475014C>T - RHBDF2_000062 rs3744044 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kyllini, Elis & Asia Minor Achaea Greek no - 1 Despoina Kalfakakou
?/? - c.561C>G r.(=) p.(=) Parent #2 g.74474999G>C - RHBDF2_000050 - - Germline - - - - DNA SEQ-NG-I 1 Pheo - M Syria - Syrian no - 1 Despoina Kalfakakou
?/? - c.586G>C r.(?) p.(Val196Leu) Parent #2 g.74474974C>G - RHBDF2_000049 - - Germline - - - - DNA SEQ-NG-I 1 CAL, NF, SRCM - M Asia Minor Didymoteicho Greek no - 4 Despoina Kalfakakou
?/? - c.673-51C>T r.(=) p.(=) Parent #2 g.74473918G>A - RHBDF2_000042 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, MNGM - F Lasithi Plateau - Greek no - 1 Despoina Kalfakakou
?/? - c.673G>A r.(?) p.(Gly225Arg) Parent #2 g.74473867C>T - RHBDF2_000010 rs762067372 - Germline - - - - DNA SEQ-NG-I 1 BrCa, ENC - F Russia - Greek no - 8 Despoina Kalfakakou
?/? - c.684G>A r.(=) p.(=) Parent #2 g.74473856C>T - RHBDF2_000037 rs773001667 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Heraklion Greek no - 1 Despoina Kalfakakou
-/- - c.788C>T r.(?) p.(Ser263Phe) Parent #2 g.74473752G>A - RHBDF2_000070 rs116968311 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chios - Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Tripoli - Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tzoumerka, Arta - Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Livadeia Honduras Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Albania - Albanian no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Argos Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amfikleis, Phthiotis Athens Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Myrsini, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aliveri, Evia Ioannina Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Neochori, Elis Lithochori, Evrytania Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F İzmir Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Ioannina Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kozani Giannitsa Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 CMM3, CRC - M Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrainCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - F Smyrna, Asia Minor Thiva Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Laconia - Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Argos - Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) Parent #2 g.74473698C>A - RHBDF2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Albania - Albanian no - 1 Despoina Kalfakakou
-/- - c.853G>A r.(?) p.(Ala285Thr) Parent #2 g.74473329C>T - RHBDF2_000002 rs140433374 - Germline - - - - DNA SEQ-NG-I 1 BrCa, PANCA - F Neochori, Laconia Gytheio, Laconia Greek no - 1 Despoina Kalfakakou
-/- - c.853G>A r.(?) p.(Ala285Thr) Parent #2 g.74473329C>T - RHBDF2_000002 rs140433374 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Elis Greek no - 1 Despoina Kalfakakou
?/? - c.920+30G>T r.(=) p.(=) Parent #2 g.74473232C>A - RHBDF2_000009 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Thessaloniki Kavala Greek no - 1 Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) Parent #2 g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada - Greek no - 1 Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) Parent #2 g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Florina Boeotia Greek no - 1 Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) Parent #2 g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kalamata Athens Greek no - 1 Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) Parent #2 g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - DNA SEQ-NG-I 1 - - F Analipsi, Trichonida, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) Parent #2 g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) Parent #2 g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pella Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) Parent #2 g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.955C>T r.(?) p.(Arg319Trp) Parent #2 g.74473072G>A - RHBDF2_000008 rs749017499 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Perachora, Loutraki Agioi Theodori, Corinth Greek no - 1 Despoina Kalfakakou
?/? - c.955C>T r.(?) p.(Arg319Trp) Parent #2 g.74473072G>A - RHBDF2_000008 rs749017499 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Kria Vrisi, Giannitsa Armenoi, Messenia Greek no - 2 Despoina Kalfakakou
?/? - c.956G>A r.(?) p.(Arg319Gln) Parent #2 g.74473071C>T - RHBDF2_000054 rs149436907 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Nicolaos Kritsa Greek no - 1 Despoina Kalfakakou
?/? - c.956G>A r.(?) p.(Arg319Gln) Parent #2 g.74473071C>T - RHBDF2_000054 rs149436907 - Germline - - - - DNA SEQ-NG-I 1 GC - M - - - - - 1 Despoina Kalfakakou
?/? - c.961G>A r.(?) p.(Gly321Ser) Parent #2 g.74473066C>T - RHBDF2_000040 rs781186202 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Evia Greek no - 1 Despoina Kalfakakou
?/? - c.995C>T r.(?) p.(Ala332Val) Parent #2 g.74473032G>A - RHBDF2_000026 rs144193184 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
-/- - c.1004G>A r.(?) p.(Arg335Gln) Parent #2 g.74473023C>T - RHBDF2_000025 rs146134173 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Smyrna, Asia Minor Corfu Greek no - 1 Despoina Kalfakakou
-/- - c.1004G>A r.(?) p.(Arg335Gln) Parent #2 g.74473023C>T - RHBDF2_000025 rs146134173 - Germline - - - - DNA SEQ-NG-I 1 Epend, OC - M Mitilini Athens Greek no - 1 Despoina Kalfakakou
-/- - c.1004G>A r.(?) p.(Arg335Gln) Parent #2 g.74473023C>T - RHBDF2_000025 rs146134173 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karystos, Evia - Greek no - 1 Despoina Kalfakakou
-/- - c.1004G>A r.(?) p.(Arg335Gln) Parent #2 g.74473023C>T - RHBDF2_000025 rs146134173 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 3 Despoina Kalfakakou
?/? - c.1026C>T r.(=) p.(=) Parent #2 g.74473001G>A - RHBDF2_000069 rs747665496 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chios - Greek no - 1 Despoina Kalfakakou
?/? - c.1116-47G>A r.(=) p.(=) Parent #2 g.74471270C>T - RHBDF2_000024 - - Germline - - - - DNA SEQ-NG-I 1 CRC - F Euboea Crete Greek no - 1 Despoina Kalfakakou
?/? - c.1116-46T>C r.(=) p.(=) Parent #2 g.74471269A>G - RHBDF2_000023 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Graika, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.1116-46T>C r.(=) p.(=) Parent #2 g.74471269A>G - RHBDF2_000023 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Aronas, Pieria Greek no - 1 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople - Greek no - 4 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Episkopi, Rethymno Volos Greek no - 1 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Livadeia Davleia, Boeotia Greek no - 1 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Myrsini, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - Greek no - 1 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 - - F Agrinio Patras Greek no - 1 Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) Parent #2 g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessalia & Larisa Aitoliko, AetoliaAcarnania Greek no - 1 Despoina Kalfakakou
?/? - c.1189G>T r.(?) p.(Ala397Ser) Parent #2 g.74471150C>A - RHBDF2_000045 rs148300552 - Germline - - - - DNA SEQ-NG-I 1 AML, BrCa, CRC, PNCA2, TRC - F Asia Minor Rethimno, Crete Greek no - 1 Despoina Kalfakakou
?/? - c.1227+26G>C r.(=) p.(=) Parent #2 g.74471086C>G - RHBDF2_000064 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Livadeia Constantinople Greek no - 1 Despoina Kalfakakou
?/? - c.1303-8T>C r.(=) p.(=) Parent #2 g.74470624A>G - RHBDF2_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lechaina, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.1335A>G r.(=) p.(=) Parent #2 g.74470584T>C - RHBDF2_000016 rs765168441 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Piraeus Crete Greek no - 1 Despoina Kalfakakou
?/? - c.1346G>A r.(?) p.(Arg449Gln) Parent #2 g.74470573C>T - RHBDF2_000048 rs763844221 - Germline - - - - DNA SEQ-NG-I 1 BBT, PGL2 - F Gytheio, Laconia Chosiario, Laconia Greek no - 5 Despoina Kalfakakou
?/? - c.1363G>A r.(?) p.(Glu455Lys) Parent #2 g.74470556C>T - RHBDF2_000075 rs147819473 - Germline - - - - DNA SEQ-NG-I 1 ENC - F Gouria, Messolonghi Stamna, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
?/? - c.1380C>T r.(=) p.(=) Parent #2 g.74470539G>A - RHBDF2_000015 rs34005184 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 3 Despoina Kalfakakou
?/? - c.1395G>T r.(?) p.(Glu465Asp) Parent #2 g.74470524C>A - RHBDF2_000028 - - Germline - - - - DNA SEQ-NG-I 1 CRC - F Makrakomi, Phthiotis Achladini , Ilia Greek no - 2 Despoina Kalfakakou
-/- - c.1396C>T r.(?) p.(Arg466Trp) Parent #2 g.74470523G>A - RHBDF2_000005 rs143503813 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
-/- - c.1396C>T r.(?) p.(Arg466Trp) Parent #2 g.74470523G>A - RHBDF2_000005 rs143503813 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Peloponnese Greek no - 1 Despoina Kalfakakou
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