Full data view for gene BLM

Information The variants shown are described using the NM_000057.2 transcript reference sequence.

286 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.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Preveza - Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Frousouna, Argolis Artemisio, Arcadia Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Avlonari, Evia - Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 PGL2, Pheo - F Milies, Euboea Krioneritis, Euboea Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 OBT, PNCA2 - M Edessa Pentapoli, Serres Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Psari, Messenia Mavronoros, Grevena Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Didyma, Argolis Levidi, Argolis Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Rafti, Arcadia - Greek no - 1 Despoina Kalfakakou
?/? - c.191A>T r.(?) p.(Asp64Val) Parent #2 g.91292689A>T - BLM_000055 rs140382474 - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Messenia - Greek no - 1 Despoina Kalfakakou
?/? - c.191A>T r.(?) p.(Asp64Val) Parent #2 g.91292689A>T - BLM_000055 rs140382474 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Piraeus Larisa Greek no - 1 Despoina Kalfakakou
?/? - c.191A>T r.(?) p.(Asp64Val) Parent #2 g.91292689A>T - BLM_000055 rs140382474 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Elis Metochi, Achaea Greek no - 1 Despoina Kalfakakou
?/? - c.274A>G r.(?) p.(Asn92Asp) Parent #2 g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Gkoura, Corinth - Greek no - 1 Despoina Kalfakakou
?/? - c.274A>G r.(?) p.(Asn92Asp) Parent #2 g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Stasimo, Messenia - Greek no - 1 Despoina Kalfakakou
?/? - c.274A>G r.(?) p.(Asn92Asp) Parent #2 g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nafpaktos Volos Greek no - 1 Despoina Kalfakakou
?/? - c.274A>G r.(?) p.(Asn92Asp) Parent #2 g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pitsineika, Nafpaktos - Greek no - 1 Despoina Kalfakakou
?/? - c.324G>C r.(?) p.(Leu108Phe) Parent #2 g.91292822G>C - BLM_000109 rs1198433222 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavyli, Evros - Greek no - 1 Despoina Kalfakakou
-?/-? - c.345G>A r.(=) p.(=) Parent #2 g.91292843G>A - BLM_000091 rs374578971 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria - Greek no - 1 Despoina Kalfakakou
?/? - c.368A>G r.(?) p.(Gln123Arg) Parent #2 g.91292866A>G - BLM_000092 rs371223446 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria - Greek no - 1 Despoina Kalfakakou
?/? - c.403G>T r.(?) p.(Ala135Ser) Parent #2 g.91292901G>T - BLM_000101 rs373832397 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mavrochori, Kastoria - Greek no - 1 Despoina Kalfakakou
?/? - c.545C>T r.(?) p.(Thr182Ile) Parent #2 g.91293043C>T - BLM_000034 rs749838731 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - F Euboea - Greek no - 2 Despoina Kalfakakou
?/? - c.545C>T r.(?) p.(Thr182Ile) Parent #2 g.91293043C>T - BLM_000034 rs749838731 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Hydra Thera Greek no - 1 Despoina Kalfakakou
-/- - c.615G>A r.(=) p.(=) Parent #2 g.91293113G>A - BLM_000019 rs28903082 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Evia Greek no - 1 Despoina Kalfakakou
?/? - c.615G>T r.(?) p.(Lys205Asn) Parent #2 g.91293113G>T - BLM_000076 rs28903082 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.696C>A r.(?) p.(Ser232Arg) Parent #2 g.91293194C>A - BLM_000020 rs201845548 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.799+38G>A r.(=) p.(=) Parent #2 g.91293335G>A - BLM_000057 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Arta Corfu Greek no - 1 Despoina Kalfakakou
?/? - c.799+38G>A r.(=) p.(=) Parent #2 g.91293335G>A - BLM_000057 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontians of Russia - Greek no - 1 Despoina Kalfakakou
?/? - c.800-28T>A r.(=) p.(=) Parent #2 g.91294989T>A - BLM_000035 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Laconia Corfu Greek no - 1 Despoina Kalfakakou
-?/-? - c.807C>T r.(=) p.(=) Parent #2 g.91295024C>T - BLM_000110 rs147850738 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
?/? - c.808G>A r.(?) p.(Glu270Lys) Parent #2 g.91295025G>A - BLM_000070 rs762053925 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Chalkidiki Greek no - 1 Despoina Kalfakakou
-?/-? - c.822T>C r.(=) p.(=) Parent #2 g.91295039T>C - BLM_000104 rs1596221010 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki Kilkis Greek no - 1 Despoina Kalfakakou
?/? - c.857T>C r.(?) p.(Val286Ala) Parent #2 g.91295074T>C - BLM_000036 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Serres Evros Greek no - 1 Despoina Kalfakakou
?/? - c.857T>C r.(?) p.(Val286Ala) Parent #2 g.91295074T>C - BLM_000036 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eastern Thrace - Greek no - 1 Despoina Kalfakakou
-?/-? - c.888T>C r.(=) p.(=) Parent #2 g.91295105T>C - BLM_000054 rs139277089 - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Constantinople - Greek no - 1 Despoina Kalfakakou
?/? - c.899T>C r.(?) p.(Phe300Ser) Parent #2 g.91295116T>C - BLM_000065 - - Germline - - - - DNA SEQ-NG-I 1 OVCA, PANCA - F Lefkogeia, Drama & Cappadocia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.963G>A r.(=) p.(=) Parent #2 g.91298044G>A - BLM_000037 rs779461745 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Episkopi, Rethymno Volos Greek no - 1 Despoina Kalfakakou
-?/-? - c.963G>A r.(=) p.(=) Parent #2 g.91298044G>A - BLM_000037 rs779461745 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1086C>T r.(=) p.(=) Parent #2 g.91298167C>T - BLM_000038 rs375632163 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.1088-40_1088-39insC r.(=) p.(=) Parent #2 g.91303337_91303338insC - BLM_000060 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Polikarpi, Pella Chania Greek no - 1 Despoina Kalfakakou
?/? - c.1088-40_1088-39insC r.(=) p.(=) Parent #2 g.91303337_91303338insC - BLM_000060 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Desfina, Phocis - Greek no - 1 Despoina Kalfakakou
?/? - c.1212G>T r.(=) p.(=) Parent #2 g.91303501G>T - BLM_000067 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Trikala - Greek no - 1 Despoina Kalfakakou
?/? - c.1220+25A>T r.(=) p.(=) Parent #2 g.91303534A>T - BLM_000053 rs28385010 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pigi, Cyprus Neta, Cyprus Cypriot no - 4 Despoina Kalfakakou
?/? - c.1221-23_1221-21del r.(=) p.(=) Parent #2 g.91303801_91303803del - BLM_000041 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Tylissos, Crete - Greek no - 1 Despoina Kalfakakou
?/? - c.1221-16T>C r.(=) p.(=) Parent #2 g.91303808T>C - BLM_000058 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CHL, ColPol - F Constantinople Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.1229T>C r.(?) p.(Leu410Pro) Parent #2 g.91303832T>C - BLM_000097 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Exarchos, Phthiotis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1315A>G r.(?) p.(Met439Val) Parent #2 g.91303918A>G - BLM_000071 rs201231857 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Drepano, Kozani & Trabzon Drepano, Kozani & ─░zmit, Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.1338A>G r.(=) p.(=) Parent #2 g.91303941A>G - BLM_000039 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
?/? - c.1338A>G r.(=) p.(=) Parent #2 g.91303941A>G - BLM_000039 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Gergeri, Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.1433G>C r.(?) p.(Gly478Ala) Parent #2 g.91304036G>C - BLM_000090 rs759810567 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
?/? - c.1552T>C r.(?) p.(Ser518Pro) Parent #2 g.91304155T>C - BLM_000081 - - Germline - - - - DNA SEQ-NG-I 1 NF - M Rethimno, Crete Vilia, Attika Greek no - 1 Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) Parent #2 g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Skopelos - Greek no - 1 Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) Parent #2 g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) Parent #2 g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 1 Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) Parent #2 g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - DNA SEQ-NG-I 1 - - F Proti, Serres Agiasos, Lesbos Greek no - 1 Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) Parent #2 g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavala - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Trikala Crete Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Giannitsa Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Spetses Laconia Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Evrytania Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi Ioannina Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Both (homozygous) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Livadi, Elassona Nea Trapezounta, Pieria Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Asia Minor Greek no - 3 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 CRC, TRC - F Nikisiani, Kavala Kleitoria, Kalavryta Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Symi Kos Greek no - 3 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Skiathos Corfu Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa, LuCa - F Plagia, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rodia, Pineia - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gytheio, Laconia Sparta Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rizia, Evros - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Eastern Rumelia - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karavas, Cyprus Chios Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Grevena Peloponnese Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Vonitsa Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Agios Petros Kilkis Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 MDB - M Athens Chalkida Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 Pheo - M Astros, Kynouria Amfilochia Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Volos - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aigani, Laris Sycurium, Larisa Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 2 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG - NDL, RenLes, TSC2 - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata ─░zmir Greek no - 1 Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.1825C>A r.(?) p.(Pro609Thr) Parent #2 g.91304428C>A - BLM_000048 rs770255643 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Lefka, Phthiotis Achladea, Phthiotis Greek no - 1 Despoina Kalfakakou
?/? - c.1882+49A>G r.(=) p.(=) Parent #2 g.91304534A>G - BLM_000042 - - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC, LuCa, NDL, Polyposis - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - DNA SEQ-NG-I 1 BrCa, ENC - F Asia Minor Sparti Greek no - 1 Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia Messinia Greek no - 1 Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karystos, Evia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argos Orestiko Kalo Nero, Larisa Greek no - 1 Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kapnofyto, Serres Sidirokastro, Serres Greek no - 8 Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - DNA SEQ-NG-I 1 - - F Kastoria Egypt Greek no - 1 Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Thessaloniki - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pontus - Greek no - 1 Despoina Kalfakakou
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