Full data view for gene CHEK2

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

299 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     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-4C>T r.(=) p.(=) Parent #2 g.29130713G>A - CHEK2_000074 - - - - DNA SEQ-NG-I 1 OVCA - F Patras Russia Greek no - 1 Despoina Kalfakakou
./. - c.100C>T r.(?) p.(Gln34*) Parent #2 g.29130610G>A - CHEK2_000068 - - - - DNA SEQ-NG-I 1 PNCA2 - M Karpathos - Greek no - 1 Despoina Kalfakakou
./. - c.134C>T r.(?) p.(Thr45Met) Parent #2 g.29130576G>A - CHEK2_000071 - - - - DNA SEQ-NG-I 1 OVCA - F Aigio - Greek no - 1 Despoina Kalfakakou
./. - c.176C>T r.(?) p.(Thr59Ile) Parent #2 g.29130534G>A - CHEK2_000067 - - - - DNA SEQ-NG-I 1 LuCa, RCC, TRC - M Paramythia, Thesprotia Magoula, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.189A>G r.(=) p.(=) Parent #2 g.29130521T>C - CHEK2_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Kazakhstan - Kazakhstani no - 1 Despoina Kalfakakou
./. - c.189A>G r.(=) p.(=) Parent #2 g.29130521T>C - CHEK2_000009 - - - - DNA SEQ-NG-I 1 SRCM - F Bulgaria Platamon, Pieria Bulgarian-Greek no - 1 Despoina Kalfakakou
./. - c.190G>A r.(?) p.(Glu64Lys) Parent #2 g.29130520C>T - CHEK2_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Adendro, Thessaloniki Greek no - 4 Despoina Kalfakakou
./. - c.190G>A r.(?) p.(Glu64Lys) Parent #2 g.29130520C>T - CHEK2_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Galaxidi, Phocis Trizonia, Phocis Greek no - 1 Despoina Kalfakakou
./. - c.190G>A r.(?) p.(Glu64Lys) Parent #2 g.29130520C>T - CHEK2_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Sfakia Chania Greek no - 1 Despoina Kalfakakou
./. - c.190G>A r.(?) p.(Glu64Lys) Parent #2 g.29130520C>T - CHEK2_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Achaea Greek no - 1 Despoina Kalfakakou
./. - c.222del r.(?) p.(Pro75Leufs*35) Parent #2 g.29130488del - CHEK2_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Valimitika, Aigio Kymi, Evia Greek no - 3 Despoina Kalfakakou
./. - c.239C>A r.(?) p.(Pro80His) Parent #2 g.29130471G>T - CHEK2_000027 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.284G>C r.(?) p.(Arg95Pro) Parent #2 g.29130426C>G - CHEK2_000052 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Serres Greek no - 1 Despoina Kalfakakou
./. - c.319+17T>C r.(=) p.(=) Parent #2 g.29130374A>G - CHEK2_000048 - - - - DNA SEQ-NG-I 1 OVCA - F Akrata, Achaea - Greek no - 1 Despoina Kalfakakou
./. - c.319+353G>A r.(=) p.(=) Parent #2 g.29130038C>T - CHEK2_000069 rs17880388 - - - DNA SEQ-NG-I 1 PNCA2 - M Laurium Direvmata Euboea Greek no - 1 Despoina Kalfakakou
./. - c.319+378_319+379insGAA r.(=) p.(=) Parent #2 g.29130012_29130013insTTC - CHEK2_000078 - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.319+380C>T r.(=) p.(=) Parent #2 g.29130011G>A - CHEK2_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Spetses Laconia Greek no - 1 Despoina Kalfakakou
./. - c.319+380C>T r.(=) p.(=) Parent #2 g.29130011G>A - CHEK2_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.319+381_319+382insAAGGT r.(=) p.(=) Parent #2 g.29130009_29130010insACCTT - CHEK2_000077 - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.319+411C>T r.(=) p.(=) Parent #2 g.29129980G>A - CHEK2_000066 - - - - DNA SEQ-NG-I 1 CUP - F Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.319+411C>T r.(=) p.(=) Parent #2 g.29129980G>A - CHEK2_000066 - - - - DNA SEQ-NG-I 1 MDB - F Kefalonia Neapoli, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) Parent #2 g.29121265C>T - CHEK2_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Strimi, Rodopi Manesi, Argos Greek no - 1 Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) Parent #2 g.29121265C>T - CHEK2_000008 - - - - DNA SEQ-NG-I 1 OVCA, SkCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) Parent #2 g.29121265C>T - CHEK2_000008 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Lechaina, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) Parent #2 g.29121265C>T - CHEK2_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Katerini - Greek no - 1 Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) Parent #2 g.29121265C>T - CHEK2_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Skopelos Volos Greek no - 1 Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) Parent #2 g.29121265C>T - CHEK2_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Xanthi - Greek no - 1 Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) Parent #2 g.29121265C>T - CHEK2_000008 - - - - DNA SEQ-NG-I 1 LuCa, RCC, TRC - M Paramythia, Thesprotia Magoula, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) Parent #2 g.29121265C>T - CHEK2_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Lefkas - Greek no - 1 Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) Unknown g.29121265C>T - CHEK2_000008 - Germline - - DNA SEQ 0 Healthy/Control - F Thebes - Greek no - 3 Despoina Kalfakakou
./. - c.433C>T r.(?) p.(Arg145Trp) Parent #2 g.29121242G>A - CHEK2_000025 - - - - DNA SEQ-NG-I 1 CRC - M Manesi, Messinia - Greek no - 5 Despoina Kalfakakou
./. - c.433C>T r.(?) p.(Arg145Trp) Parent #2 g.29121242G>A - CHEK2_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Nea Figaleia, Elis Taxiarchis, Olympia Greek no - 1 Despoina Kalfakakou
./. - c.434G>C r.(?) p.(Arg145Pro) Parent #2 g.29121241C>G - CHEK2_000058 - - - - DNA SEQ-NG-I 1 CAL, LiCa, NDL, TRC - F - - Greek no - 1 Despoina Kalfakakou
./. - c.442A>G r.(?) p.(Arg148Gly) Parent #2 g.29121233T>C - CHEK2_000057 - - - - DNA SEQ-NG-I 1 BrCa - F Tripoli Soufli Greek no - 2 Despoina Kalfakakou
./. - c.444+24C>T r.(=) p.(=) Both (homozygous) g.29121207G>A - CHEK2_000065 - - - - DNA SEQ-NG-I 1 PrCa - M Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.444+47A>C r.(=) p.(=) Parent #2 g.29121184T>G - CHEK2_000076 - - - - DNA SEQ-NG-I 1 OVCA - F Amfilochia - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Askri, Boeotia Amarynthos, Evia Greek no - 3 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Ukraine - Ukrainian no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 OVCA - F Kalabaka Trikala Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Mytilene - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Venice Mani Greek no - 2 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 CRC - M Kefalonia Mani Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Amaliada Corinth Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Glossa, Skopelos - Greek no - 2 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Foiniki, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa, TRC - F Asia Minor Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Romania - Romanian no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa, OVCA, TRC - F Stavros, Lesvos - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa - F Athens Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 RCC - F Kanalia, Magnesia Phylace, Magnesia Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrainCa, ColPol - M Naxos - German-Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 ColPol, CRC, GC - F Nafpaktos Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 AGCa, CRC - F Volos Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 PNCA2 - M Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 BrCa, MXM - F Edessa Edessa Greek no - 3 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 OVCA - F Katerini Thalames, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 OVCA - F Assos, Corinthia Vrachati, Corinthia Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 ENC, OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 OVCA - F Kastoria - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Maternal (confirmed) g.29121087A>G - CHEK2_000007 - Germline ? No DNA SEQ 0 Healthy/Control - F Edessa Izmir Greek no - 2 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Maternal (confirmed) g.29121087A>G - CHEK2_000007 - Germline no No DNA SEQ 0 Healthy/Control - F Edessa Izmir Greek no - 2 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Parent #2 g.29121087A>G - CHEK2_000007 rs17879961 - - - DNA SEQ-NG-I 1 OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
+?/-? - c.470T>C r.(?) p.(Ile157Thr) Unknown g.29121087A>G [ Delimitsou et al 2019] CHEK2_000007 - Germline ? No DNA SEQ 1 BrCa - F Poland - Greek no - 1 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Unknown g.29121087A>G - CHEK2_000007 - Germline ? No DNA SEQ 1 BrCa - F Arcadia - Greek no - 5 Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) Maternal (confirmed) g.29121087A>G - CHEK2_000007 - Germline ? No DNA SEQ 0 Healthy/Control - F Kalamata - Greek no - 4 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Parent #2 g.29121077T>C - CHEK2_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Kasos - Greek no - 2 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Parent #2 g.29121077T>C - CHEK2_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Kasos - Greek no - 2 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Parent #2 g.29121077T>C - CHEK2_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Syros Evia Greek no - 4 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Parent #2 g.29121077T>C - CHEK2_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Phocis Patra Greek no - 1 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Unknown g.29121077T>C - CHEK2_000006 - Germline - - DNA SEQ - BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Parent #2 g.29121077T>C - CHEK2_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Karpathos / Pontus Karpathos / Pontus Greek no - 1 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Parent #2 g.29121077T>C - CHEK2_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Vagia, Thebes Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Unknown g.29121077T>C - CHEK2_000006 - Germline ? No DNA SEQ 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Maternal (confirmed) g.29121077T>C - CHEK2_000006 - Germline ? No DNA SEQ 0 Healthy/Control - M Germany - Greek no - 2 Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) Unknown g.29121077T>C - CHEK2_000006 - Germline ? No DNA SEQ 1 BrCa - F Thessaloniki - Greek no - 3 Despoina Kalfakakou
./. - c.483_484insAGAA r.(?) p.(Asp162Argfs*25) Unknown g.29121073_29121074insTTCT - CHEK2_000081 - Germline ? No DNA SEQ 0 BrCa, ENC - F Xanthi Naousa Greek no - 3 Despoina Kalfakakou
./. - c.483_484insAGAA r.(?) p.(Asp162Argfs*25) Maternal (confirmed) g.29121073_29121074insTTCT - CHEK2_000081 - Germline ? No DNA SEQ 0 Healthy/Control - M Xanthi Naousa Greek no - 3 Despoina Kalfakakou
./. - c.483_484insAGAA r.(?) p.(Asp162Argfs*25) Maternal (confirmed) g.29121073_29121074insTTCT - CHEK2_000081 - Germline ? - DNA SEQ 1 BrCa - F Thessaloniki Naousa Greek no - 4 Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) Parent #2 g.29121058C>T - CHEK2_000024 rs72552322 - - - DNA SEQ-NG-I 1 BrCa - F Athens Korifi, Kilkis Greek no - 2 Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) Parent #2 g.29121058C>T - CHEK2_000024 rs72552322 - - - DNA SEQ-NG-I 1 BrCa - F Perigiali, Corinth Kavala Greek no - 3 Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) Parent #2 g.29121058C>T - CHEK2_000024 rs72552322 - - - DNA SEQ-NG-I 1 BrCa - F Kamares, Aigaleia Skala, Nafpaktia Greek no - 3 Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) Parent #2 g.29121058C>T - CHEK2_000024 rs72552322 - - - DNA SEQ-NG-I 1 BrCa - F Nicaea - Greek no - 2 Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) Parent #2 g.29121058C>T - CHEK2_000024 rs72552322 - - - DNA SEQ-NG-I 1 PNCA2 - M Lakkopetra, Achaea - Greek no - 1 Despoina Kalfakakou
./. - c.507del r.(?) p.(Phe169Leufs*2) Parent #2 g.29121050del - CHEK2_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese - Greek no - 1 Despoina Kalfakakou
./. - c.507del r.(?) p.(Phe169Leufs*2) Parent #2 g.29121050del - CHEK2_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Evros Greek no - 1 Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) Parent #2 g.29121018C>T - CHEK2_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Kilkis - Greek no - 1 Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) Parent #2 g.29121018C>T - CHEK2_000005 - - - - DNA SEQ-NG-I 1 HMGM, NDL, RCC - M Fotada, Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) Parent #2 g.29121018C>T - CHEK2_000005 - - - - DNA SEQ-NG-I 1 PD - M Ano Gerouna, Corfu Pedika, Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) Parent #2 g.29121018C>T - CHEK2_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Chloi, Magnesia Velestino Greek no - 4 Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) Parent #2 g.29121018C>T - CHEK2_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Lamia - Greek no - 1 Despoina Kalfakakou
./. - c.541C>T r.(?) p.(Arg181Cys) Parent #2 g.29121016G>A - CHEK2_000045 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.541C>T r.(?) p.(Arg181Cys) Parent #2 g.29121016G>A - CHEK2_000045 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 2 Despoina Kalfakakou
./. - c.549G>C r.(?) p.(Leu183Phe) Maternal (confirmed) g.29121008C>G - CHEK2_000080 - Germline ? N/A DNA SEQ 0 Healthy/Control - F Thessaloniki - Greek no - 3 Despoina Kalfakakou
./. - c.549G>C r.(?) p.(Leu183Phe) Unknown g.29121008C>G - CHEK2_000080 - Germline ? No DNA SEQ 1 BrCa - F Kilkis - Greek no - 3 Despoina Kalfakakou
./. - c.592+3A>T r.spl? p.? Parent #2 g.29120962T>A - CHEK2_000031 - - - - DNA SEQ-NG-I 1 BrCa - F Chrysa, Aridaia, Pella - Greek no - 4 Despoina Kalfakakou
./. - c.592+3A>T r.spl? p.? Parent #2 g.29120962T>A - CHEK2_000031 - - - - DNA SEQ-NG-I 1 OVCA - F Neo Monastiri, Domokos - Greek no - 1 Despoina Kalfakakou
./. - c.592+50A>T r.(=) p.(=) Parent #2 g.29120915T>A - CHEK2_000004 rs17881298 - - - DNA SEQ-NG-I 1 BrCa, CWS1 - F Kozani - Greek no - 1 Despoina Kalfakakou
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