Full data view for gene BMPR1A

Information The variants shown are described using the NM_004329.2 transcript reference sequence.

143 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

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Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

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Geographic origin     

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Owner     
+/+ 1 c.(?) r.(?) p.(?) Parent #2 g.(?_88516426)_(88516683_88598727) - BMPR1A_000049 - Deletion extending exon 1 of a transcript, which is transcribed, but not translated. According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - BMPR1A exon 1 deletion - - DNA MLPA 0 Polyposis - F Euboea - Greek no - 1 Despoina Kalfakakou
+/+ 1 c.(?) r.(?) p.(?) Parent #2 g.(?_88516426)_(88516683_88598727) - BMPR1A_000049 - Deletion extending exon 1 of a transcript, which is transcribed, but not translated. According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - BMPR1A exon 1 deletion - - DNA MLPA 1 Polyposis - F Euboea - Greek no - 2 Despoina Kalfakakou
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Antissa, Lesvos Skalochori, Lesvos - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Ioannina - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Karditsa - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sidirokastro, Serres France - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Both (homozygous) g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Pontus - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus & Crete Pontus & Eastern Thrace - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalabaka - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Valtetsi, Arcadia Poros Trizinias - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Both (homozygous) g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kefalonia - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Gjirokaster, Albania - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Stavros, Larissa Sofades, Karditsa - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Zakynthos Gytheio & Mani Peninsula - - - 3 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Santorini & Smyrna - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Istanbul Mikra Asia - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sitia, Crete Mani Peninsula & Icaria - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Both (homozygous) g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Albania - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Antalya, Turkey & Euboea - - - 4 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada,Phthiotis Paleovracha,Phthiotis - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Karpenisi - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Keratea - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Erythres, Attica - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aeghion & Mikra Asia Skiathos & Mikra Asia - - - 1 Stevi Xera
?/? - c.56C>T r.(?) p.(Ser19Phe) Parent #2 g.88635831C>T - BMPR1A_000044 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti - Greek no - 1 Despoina Kalfakakou
?/? - c.90T>C r.(=) p.(=) Parent #2 g.88649841T>C - BMPR1A_000041 rs1564714758 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
-?/-? - c.93T>C r.(=) p.(=) Parent #2 g.88649844T>C - BMPR1A_000040 rs1461705514 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
?/? - c.114C>G r.(?) p.(Asp38Glu) Parent #2 g.88649865C>G - BMPR1A_000029 rs1021443408 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Korakovouni, Arcadia - Greek no - 1 Despoina Kalfakakou
?/? - c.118G>A r.(?) p.(Asp40Asn) Parent #2 g.88649869G>A - BMPR1A_000038 rs587781556 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Amarynthos, Euboea - Greek no - 1 Despoina Kalfakakou
-?/-? - c.148T>C r.(=) p.(=) Parent #2 g.88649899T>C - BMPR1A_000030 rs964544915 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Korakovouni, Arcadia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>T r.(=) p.(=) Parent #2 g.88649934C>T - BMPR1A_000035 rs140610221 - Germline - - - - DNA SEQ-NG-I 1 BBT, PGL2 - F Gytheio, Laconia Chosiario, Laconia Greek no - 5 Despoina Kalfakakou
-?/-? - c.198C>T r.(=) p.(=) Parent #2 g.88649949C>T - BMPR1A_000015 rs150493865 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Messenia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.231-9C>T r.(=) p.(=) Parent #2 g.88651875C>T - BMPR1A_000013 rs763313220 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ampelonas, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.333+29A>G r.(=) p.(=) Parent #2 g.88652015A>G - BMPR1A_000047 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Arcadia Lamia Greek no - 1 Despoina Kalfakakou
-?/-? - c.357C>T r.(=) p.(=) Parent #2 g.88659574C>T - BMPR1A_000023 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 2 Despoina Kalfakakou
-?/-? - c.372T>C r.(=) p.(=) Parent #2 g.88659589T>C - BMPR1A_000001 rs755028781 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Nea Flogita, Chalkidiki Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+12G>A r.(=) p.(=) Parent #2 g.88659659G>A - BMPR1A_000011 rs201530603 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Krioneri, Karditsa - Greek no - 4 Despoina Kalfakakou
-?/-? - c.430+12G>A r.(=) p.(=) Parent #2 g.88659659G>A - BMPR1A_000011 rs201530603 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Corfu - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+12G>A r.(=) p.(=) Parent #2 g.88659659G>A - BMPR1A_000011 rs201530603 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+12G>A r.(=) p.(=) Parent #2 g.88659659G>A - BMPR1A_000011 rs201530603 - Germline - - - - DNA SEQ-NG-I 1 BrCa, GaPol - F Petrino, Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Athens Drama Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messinia Phocis Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Athens - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Myrsini, Laconia Finiki, Thesprotia Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karystos, Euboea - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Naxos Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karpenissi - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karia, Lamia Ormenio, Orestias Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 OVCA, PANCA, PNCA2 - F Volos - Greek no - 2 Despoina Kalfakakou
?/? - c.431-30A>G r.(=) p.(=) Parent #2 g.88659754A>G - BMPR1A_000039 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.499A>G r.(?) p.(Met167Val) Parent #2 g.88659852A>G - BMPR1A_000022 rs200951235 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Kavala Greek no - 1 Despoina Kalfakakou
?/? - c.675+10A>T r.(=) p.(=) Parent #2 g.88672151A>T - BMPR1A_000021 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli Laurium Greek no - 1 Despoina Kalfakakou
?/? - c.675+47T>C r.(=) p.(=) Parent #2 g.88672188T>C - BMPR1A_000025 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lamia Agrafa Greek no - 1 Despoina Kalfakakou
?/? - c.675+47T>C r.(=) p.(=) Parent #2 g.88672188T>C - BMPR1A_000025 - - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.675+47T>C r.(=) p.(=) Parent #2 g.88672188T>C - BMPR1A_000025 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Sitomena, AetoliaAcarnania - Greek no - 1 Despoina Kalfakakou
?/? - c.676-34C>T r.(=) p.(=) Parent #2 g.88676857C>T - BMPR1A_000045 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Trikala & Athens Thera & Athens Greek no - 1 Despoina Kalfakakou
?/? - c.676-24A>G r.(=) p.(=) Parent #2 g.88676867A>G - BMPR1A_000019 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Xylagani, Rodhope - Greek no - 1 Despoina Kalfakakou
-?/-? - c.676-6A>C r.(=) p.(=) Parent #2 g.88676885A>C - BMPR1A_000026 rs186999445 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kapnofyto, Serres Sidirokastro, Serres Greek no - 8 Despoina Kalfakakou
-?/-? - c.676-6A>C r.(=) p.(=) Parent #2 g.88676885A>C - BMPR1A_000026 rs186999445 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
./. - c.711C>A r.(=) p.(=) Parent #2 g.88676926C>A - BMPR1A_000050 - - - - - - - DNA SEQ-NG-I 1 BrainCa, HMGM - M Ierapetra, Crete Russian Pontus Greek no - 1 Despoina Kalfakakou
-/- - c.777G>A r.(=) p.(=) Parent #2 g.88676992G>A - BMPR1A_000012 rs56108371 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Armenia - Greek no - 3 Despoina Kalfakakou
-/- - c.777G>A r.(=) p.(=) Parent #2 g.88676992G>A - BMPR1A_000012 rs56108371 - Germline - - - - DNA SEQ-NG-I 1 - - F Agrinio Patras Greek no - 1 Despoina Kalfakakou
?/? - c.869-43A>G r.(=) p.(=) Parent #2 g.88678886A>G - BMPR1A_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Thasos - Greek no - 1 Despoina Kalfakakou
?/? - c.869-43A>G r.(=) p.(=) Parent #2 g.88678886A>G - BMPR1A_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Halkidiki - Greek no - 1 Despoina Kalfakakou
?/? - c.869-43A>G r.(=) p.(=) Parent #2 g.88678886A>G - BMPR1A_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Serres Greek no - 1 Despoina Kalfakakou
-?/-? - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Krapsi, Ioannina - Greek no - 2 Despoina Kalfakakou
-?/-? - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 1 Despoina Kalfakakou
-?/-? - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - DNA SEQ-NG-I 1 AML, BrCa, CRC, PNCA2, TRC - F Asia Minor Rethimno, Crete Greek no - 1 Despoina Kalfakakou
-?/-? - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
-?/-? - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavala Asia Minor Thera Greek no - 1 Despoina Kalfakakou
-?/-? - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 3 Despoina Kalfakakou
?/? - c.987A>C r.(?) p.(Arg329Ser) Parent #2 g.88679047A>C - BMPR1A_000034 rs753521037 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Turkey Siatista, Kozani Greek no - 1 Despoina Kalfakakou
?/? - c.1000T>A r.(?) p.(Leu334Met) Parent #2 g.88679060T>A - BMPR1A_000027 rs749873461 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Serres Greek no - 1 Despoina Kalfakakou
?/? - c.1001T>C r.(?) p.(Leu334Ser) Parent #2 g.88679061T>C - BMPR1A_000036 rs915929375 - Germline - - - - DNA SEQ-NG-I 1 HMGM, MenDis, MNGM, NDL, SIPol, TRC - F Ano Diminio, Corinthia Rizomylos, Aigio Greek no - 1 Despoina Kalfakakou
./. - c.1001T>C r.(?) p.(Leu334Ser) Parent #2 g.88679061T>C - BMPR1A_000036 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Stavros, Larissa Sofades, Karditsa - - - 1 Stevi Xera
?/? - c.1038C>A r.(?) p.(His346Gln) Parent #2 g.88679098C>A - BMPR1A_000043 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lasithi Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.1046T>C r.(?) p.(Ile349Thr) Parent #2 g.88679106T>C - BMPR1A_000054 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Romania - - - - 1 Stevi Xera
?/? - c.1160T>G r.(?) p.(Phe387Cys) Parent #2 g.88679220T>G - BMPR1A_000017 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Florina Boeotia Greek no - 1 Despoina Kalfakakou
?/? - c.1215A>C r.(?) p.(Lys405Asn) Parent #2 g.88681325A>C - BMPR1A_000004 rs587781522 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Messolonghi Greek no - 1 Despoina Kalfakakou
?/? - c.1215A>C r.(?) p.(Lys405Asn) Parent #2 g.88681325A>C - BMPR1A_000004 rs587781522 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.1215A>C r.(?) p.(Lys405Asn) Parent #2 g.88681325A>C - BMPR1A_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
?/? - c.1215A>C r.(?) p.Lys405Asn Unknown g.88681325A>C - BMPR1A_000004 rs587781522 - Germline - - - - DNA SEQ-NG 1 BrCa - F Edessa - - - - 1 Stevi Xera
./. - c.1215A>C r.(?) p.(Lys405Asn) Parent #2 g.88681325A>C - BMPR1A_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
-?/-? - c.1230C>T r.(=) p.(=) Parent #2 g.88681340C>T - BMPR1A_000014 rs200642188 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - M Kymi, Euboea - Greek no - 3 Despoina Kalfakakou
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