Full data view for gene ALK

Information The variants shown are described using the NM_004304.4 transcript reference sequence.

527 entries on 6 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.-6G>C r.(=) p.(=) Parent #2 g.30143531C>G - ALK_000016 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Nea Flogita, Chalkidiki Greek no - 1 Despoina Kalfakakou
?/? - c.1A>T r.? p.? Parent #2 g.30143525T>A - ALK_000070 rs1202047396 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyclades Mytilene Greek no - 1 Despoina Kalfakakou
?/? - c.1A>T r.? p.? Parent #2 g.30143525T>A - ALK_000070 rs1202047396 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.26T>C r.(?) p.(Leu9Pro) Parent #2 g.30143500A>G - ALK_000111 rs764671855 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neochori, Orestias - Greek no - 1 Despoina Kalfakakou
-?/-? - c.72G>A r.(=) p.(=) Parent #2 g.30143454C>T - ALK_000037 rs756782371 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Costantinople Greek no - 1 Despoina Kalfakakou
-?/-? - c.106C>T r.(?) p.(Pro36Ser) Parent #2 g.30143420G>A - ALK_000027 rs201490095 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi Ioannina Greek no - 1 Despoina Kalfakakou
-?/-? - c.106C>T r.(?) p.(Pro36Ser) Parent #2 g.30143420G>A - ALK_000027 rs201490095 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio United Kingdom Greek no - 1 Despoina Kalfakakou
-?/-? - c.106C>T r.(?) p.(Pro36Ser) Parent #2 g.30143420G>A - ALK_000027 rs201490095 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vagia, Thebes Ioannina Greek no - 1 Despoina Kalfakakou
?/? - c.234G>A r.(=) p.(=) Parent #2 g.30143292C>T - ALK_000114 rs1338599727 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor ─░zmir Greek no - 1 Despoina Kalfakakou
./. - c.350C>T r.(?) p.(Pro117Leu) Parent #2 g.30143176G>A - ALK_000125 - - - - - - - DNA SEQ-NG-I 1 BrainCa, HMGM - M Ierapetra, Crete Russian Pontus Greek no - 1 Despoina Kalfakakou
?/? - c.386G>A r.(?) p.(Gly129Asp) Parent #2 g.30143140C>T - ALK_000060 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Myrsini, Elis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.393C>T r.(=) p.(=) Parent #2 g.30143133G>A - ALK_000056 rs765026986 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Naousa Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.405C>A r.(=) p.(=) Parent #2 g.30143121G>T - ALK_000081 - - Germline - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Cassandra, Halkidiki Marathousa, Halkidiki Greek no - 1 Despoina Kalfakakou
-?/-? - c.469C>T r.(?) p.(Pro157Ser) Parent #2 g.30143057G>A - ALK_000055 rs74774946 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Veroia Hydra Preveza Greek no - 1 Despoina Kalfakakou
-?/-? - c.469C>T r.(?) p.(Pro157Ser) Parent #2 g.30143057G>A - ALK_000055 rs74774946 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amyntaio, Florina Perdikas, Ptolemaida Greek no - 1 Despoina Kalfakakou
./. - c.469C>T r.(?) p.(Pro157Ser) Parent #2 g.30143057G>A - ALK_000055 rs74774946 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aeghion & Mikra Asia Skiathos & Mikra Asia - - - 1 Stevi Xera
?/? - c.522C>A r.(?) p.(Phe174Leu) Parent #2 g.30143004G>T - ALK_000059 rs587778020 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - M Alexandroupoli - Greek no - 1 Despoina Kalfakakou
?/? - c.522C>A r.(?) p.(Phe174Leu) Parent #2 g.30143004G>T - ALK_000059 rs587778020 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.522C>A r.(?) p.(Phe174Leu) Parent #2 g.30143004G>T - ALK_000059 rs587778020 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Pontus - Greek no - 1 Despoina Kalfakakou
?/? - c.522C>A r.(?) p.(Phe174Leu) Parent #2 g.30143004G>T - ALK_000059 rs587778020 - Germline - - - - DNA SEQ-NG-I 1 CAL, HypPT, NDL, Pheo - M Nisyros Constantinople Greek no - 2 Despoina Kalfakakou
?/? - c.522C>A r.(?) p.(Phe174Leu) Parent #2 g.30143004G>T - ALK_000059 rs587778020 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Volos Pontus Greek no - 1 Despoina Kalfakakou
?/? - c.522C>A r.(?) p.(Phe174Leu) Parent #2 g.30143004G>T - ALK_000059 rs587778020 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Spetses Santorini Greek no - 1 Despoina Kalfakakou
?/? - c.522C>A r.(?) p.(Phe174Leu) Parent #2 g.30143004G>T - ALK_000059 rs587778020 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.615C>T r.(=) p.(=) Parent #2 g.30142911G>A - ALK_000046 rs567498111 - Germline - - - - DNA SEQ-NG-I 1 CMM3, CRC - M Constantinople Smyrna Greek no - 1 Despoina Kalfakakou
?/? - c.667+27G>A r.(=) p.(=) Parent #2 g.30142832C>T - ALK_000072 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, DFS - F Sitia - Greek no - 1 Despoina Kalfakakou
?/? - c.667+34A>G r.(=) p.(=) Parent #2 g.30142825T>C - ALK_000049 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Egypt - Egyptian no - 1 Despoina Kalfakakou
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Eksochori, Messenia - - - - 2 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kyparissia,Messenia Elis - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Antissa, Lesvos Skalochori, Lesvos - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Patras - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Trikala, Corinthia Karia, Corinthia - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus & Galaxidi Athens & Lamia - - - 5 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Ioannina - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa, GIST - F Arta & Trikala & Distrato, Ioannina Istanbul - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Karditsa - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sidirokastro, Serres France - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Pontus - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus & Crete Pontus & Eastern Thrace - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - M Exochi, Argolida - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Laconia & Istanbul Manolada, Elis - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalabaka - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - M Sitia, Crete - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Valtetsi, Arcadia Poros Trizinias - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kefalonia - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno,Crete - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Arta - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina & Preveza Kalamata & Chania, Crete - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corum,Turkey Mikra Asia Greek - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Gjirokaster, Albania - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Messenia - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Stavros, Larissa Sofades, Karditsa - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Zakynthos Gytheio & Mani Peninsula - - - 3 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Santorini & Smyrna - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens & Kavala Rafina & Komotini - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Laurium & Mani Peninsula Mani Peninsula - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kythnos Rethymno - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia Serres - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Germany Pyrgos , Elis - - - 2 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - - - - 2 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti, Phthiotis Lesbos - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Syros & Thrace - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Istanbul Mikra Asia - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pelopio, Ancient Olympia, Elis - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Fostaina, Achaea Athani, Lefkada - - - 4 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sitia, Crete Mani Peninsula & Icaria - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Albania - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Antalya, Turkey & Euboea - - - 4 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Elliniko,Arcadia & Agoriani, Laconia - - - 3 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Romania - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada,Phthiotis Paleovracha,Phthiotis - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Andros - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Messini - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Trikala Naousa - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Karpenisi - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes Alexandroupolis - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Skyros Naxos & Klepa,Nafpaktia - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Keratea - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Parent #2 g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Erythres, Attica - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aeghion & Mikra Asia Skiathos & Mikra Asia - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Chania , Crete - - - - 1 Stevi Xera
./. - c.702T>A r.(=) p.(=) Both (homozygous) g.29940529A>T - ALK_000128 rs2246745 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lesbos Granitsa, Ioannina - - - 2 Stevi Xera
?/? - c.731A>C r.(?) p.(Asn244Thr) Parent #2 g.29940500T>G - ALK_000084 rs763986679 - Germline - - - - DNA SEQ-NG-I 1 BrCa, PNCA2, RCC - F Samos - Greek no - 1 Despoina Kalfakakou
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