Full data view for gene ERCC4

Information The variants shown are described using the NM_005236.2 transcript reference sequence.

174 entries on 2 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.16C>T r.(?) p.(Pro6Ser) Parent #2 g.14014038C>T - ERCC4_000023 rs61760160 - - - DNA SEQ-NG-I 1 Healthy/Control - F Skiathos Corfu Greek no - 1 Despoina Kalfakakou
./. - c.16C>T r.(?) p.(Pro6Ser) Parent #2 g.14014038C>T - ERCC4_000023 rs61760160 - - - DNA SEQ-NG-I 1 BrCa - F Germany - German no - 1 Despoina Kalfakakou
./. - c.105C>T r.(=) p.(=) Parent #2 g.14014127C>T - ERCC4_000046 - - - - DNA SEQ-NG-I 1 - - F Armenia Komotini Armenian-Greek no - 1 Despoina Kalfakakou
./. - c.122C>G r.(?) p.(Ala41Gly) Parent #2 g.14014144C>G - ERCC4_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Izmir Greek no - 1 Despoina Kalfakakou
./. - c.217A>G r.(?) p.(Ile73Val) Parent #2 g.14015897A>G - ERCC4_000024 - - - - DNA SEQ-NG-I 1 ColPol - M Kefalonia Crete Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Ithaca - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Poros - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Arcadia - Greek no - 2 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Symi Rhodes Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 Polyposis - F Rethimno, Crete Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Thrace Kythira Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Athens Messolonghi Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Skopelos Volos Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 OVCA - F Larisa Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 ENC - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Syros - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 OVCA - F Edessa Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 OVCA - F Chrani, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Morfi, Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Morfi, Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) Parent #2 g.14015932C>T - ERCC4_000001 rs3136056 - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Livadeia, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.290G>A r.(?) p.(Arg97His) Parent #2 g.14015970G>A - ERCC4_000053 - - - - DNA SEQ-NG-I 1 OVCA - F İzmir Volos Greek no - 1 Despoina Kalfakakou
./. - c.389-32T>A r.(=) p.(=) Parent #2 g.14020386T>A - ERCC4_000008 - - - - DNA SEQ-NG-I 1 OVCA - F İstanbul Thessaloniki İstanbul Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.473G>A r.(?) p.(Arg158His) Parent #2 g.14020502G>A - ERCC4_000034 - - - - DNA SEQ-NG-I 1 BrCa - F Megara - Greek no - 1 Despoina Kalfakakou
./. - c.532G>T r.(?) p.(Val178Leu) Parent #2 g.14020561G>T - ERCC4_000048 - - - - DNA SEQ-NG-I 1 - - F Corinthia Lesvos Greek no - 1 Despoina Kalfakakou
./. - c.532G>T r.(?) p.(Val178Leu) Parent #2 g.14020561G>T - ERCC4_000048 - - - - DNA SEQ-NG-I 1 Pheo - M Rhodes - Greek no - 1 Despoina Kalfakakou
./. - c.532G>T r.(?) p.(Val178Leu) Parent #2 g.14020561G>T - ERCC4_000048 - - - - DNA SEQ-NG-I 1 PrCa - M Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.600A>G r.(=) p.(=) Parent #2 g.14021900A>G - ERCC4_000002 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.703G>A r.(?) p.(Ala235Thr) Parent #2 g.14022003G>A - ERCC4_000009 - - - - DNA SEQ-NG-I 1 BrCa - M Rodolivos, Serres - Greek no - 1 Despoina Kalfakakou
./. - c.703G>A r.(?) p.(Ala235Thr) Parent #2 g.14022003G>A - ERCC4_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.14022038G>A - ERCC4_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.14022038G>A - ERCC4_000010 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.14022038G>A - ERCC4_000010 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Cassandra, Halkidiki Marathousa, Halkidiki Greek no - 1 Despoina Kalfakakou
./. - c.792+50A>G r.(=) p.(=) Parent #2 g.14022142A>G - ERCC4_000047 - - - - DNA SEQ-NG-I 1 ENC - F Edessa - Greek no - 1 Despoina Kalfakakou
./. - c.934T>G r.(?) p.(Ser312Ala) Parent #2 g.14024708T>G - ERCC4_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Kalavrita Thessalioniki Greek no - 1 Despoina Kalfakakou
./. - c.973+51G>A r.(=) p.(=) Parent #2 g.14024798G>A - ERCC4_000028 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Polikarpi, Pella Chania Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Drama Nea Flogita, Chalkidiki Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Portaria, Chalkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Lamia - Greek no - 4 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Thessaloniki Kavala Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Ankara Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 CRC, ENC, SkCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Kefalonia Achaea Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Lasithi - Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Xiropotamos, Drama - Greek no - 2 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Boeotia Athens Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion Kythnos Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Alexandria, Egypt Mytilene Greek no - 1 Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) Parent #2 g.14026008T>C - ERCC4_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Gimno, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.1013A>G r.(?) p.(Asn338Ser) Parent #2 g.14026053A>G - ERCC4_000041 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Gytheio Greek no - 1 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Nikiforos, Drama Nea Moydania, Chalkidiki Greek no - 1 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 CRC, Polyposis - F Crete - Greek no - 1 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Ancient Epidavros - Greek no - 3 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 CRC, ENC, OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Ikonio, Asia Minor Pontus & İstanbul Greek no - 1 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Kastria, Kalavryta Greek no - 1 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Patras Russia Greek no - 1 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Livadeia, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Chios - Greek no - 1 Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) Parent #2 g.14028081C>T - ERCC4_000013 rs1799802 - - - DNA SEQ-NG-I 1 BrCa - F Kos Lygourio, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) Parent #2 g.14028081C>T - ERCC4_000013 rs1799802 - - - DNA SEQ-NG-I 1 CRC, GaPol - F Chania, Crete Euboea Greek no - 1 Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) Parent #2 g.14028081C>T - ERCC4_000013 rs1799802 - - - DNA SEQ-NG-I 1 ColPol - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) Parent #2 g.14028081C>T - ERCC4_000013 rs1799802 - - - DNA SEQ-NG-I 1 OVCA - F Veroia Hydra Preveza Greek no - 1 Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) Parent #2 g.14028081C>T - ERCC4_000013 rs1799802 - - - DNA SEQ-NG-I 1 BrCa - F Crete Paiania Greek no - 1 Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) Parent #2 g.14028081C>T - ERCC4_000013 rs1799802 - - - DNA SEQ-NG-I 1 ColPol, HMGM, MNGM, NF, TRC - F Arnissa, Edessa Serres Greek no - 1 Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) Parent #2 g.14028081C>T - ERCC4_000013 rs1799802 - - - DNA SEQ-NG-I 1 - - F Corinthia - Greek no - 1 Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) Parent #2 g.14028081C>T - ERCC4_000013 rs1799802 - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) Parent #2 g.14028081C>T - ERCC4_000013 rs1799802 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1179A>G r.(=) p.(=) Parent #2 g.14028125A>G - ERCC4_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Pallini, Attica Region - Greek no - 1 Despoina Kalfakakou
./. - c.1207G>C r.(?) p.(Gly403Arg) Parent #2 g.14028153G>C - ERCC4_000014 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.1207G>C r.(?) p.(Gly403Arg) Parent #2 g.14028153G>C - ERCC4_000014 - - - - DNA SEQ-NG-I 1 Polyposis - M Chania, Crete Amfissa Greek no - 1 Despoina Kalfakakou
./. - c.1207G>C r.(?) p.(Gly403Arg) Parent #2 g.14028153G>C - ERCC4_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Meligalas, Messinia Platsa, Messinia Greek no - 1 Despoina Kalfakakou
./. - c.1207G>C r.(?) p.(Gly403Arg) Parent #2 g.14028153G>C - ERCC4_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.1213+26T>C r.(=) p.(=) Parent #2 g.14028185T>C - ERCC4_000032 - - - - DNA SEQ-NG-I 1 OVCA - F Milos - Greek no - 1 Despoina Kalfakakou
./. - c.1258C>T r.(=) p.(=) Parent #2 g.14029047C>T - ERCC4_000042 - - - - DNA SEQ-NG-I 1 - - F Livadeia - Greek no - 1 Despoina Kalfakakou
./. - c.1258C>T r.(=) p.(=) Parent #2 g.14029047C>T - ERCC4_000042 - - - - DNA SEQ-NG-I 1 GC - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.1283C>T r.(?) p.(Ala428Val) Parent #2 g.14029072C>T - ERCC4_000052 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) Parent #2 g.14029073G>A - ERCC4_000015 rs3136151 - - - DNA SEQ-NG-I 1 OVCA - F Pontus Ankara Greek no - 1 Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) Parent #2 g.14029073G>A - ERCC4_000015 rs3136151 - - - DNA SEQ-NG-I 1 OVCA, PANCA - F Lefkogeia, Drama & Cappadocia - Greek no - 1 Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) Parent #2 g.14029073G>A - ERCC4_000015 rs3136151 - - - DNA SEQ-NG-I 1 OVCA - F Kapnofyto, Serres Sidirokastro, Serres Greek no - 8 Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) Parent #2 g.14029073G>A - ERCC4_000015 rs3136151 - - - DNA SEQ-NG-I 1 SkCa - F Karditsa Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) Parent #2 g.14029073G>A - ERCC4_000015 rs3136151 - - - DNA SEQ-NG-I 1 OVCA - F Philippines - Greek no - 1 Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) Parent #2 g.14029073G>A - ERCC4_000015 rs3136151 - - - DNA SEQ-NG-I 1 OVCA - F Kilkis - Greek no - 1 Despoina Kalfakakou
./. - c.1292T>G r.(?) p.(Phe431Cys) Parent #2 g.14029081T>G - ERCC4_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Austria - Greek no - 1 Despoina Kalfakakou
./. - c.1563C>G r.(?) p.(Ser521Arg) Parent #2 g.14029352C>G - ERCC4_000016 rs41552412 - - - DNA SEQ-NG-I 1 CRC, PCV - F Arta - Greek no - 1 Despoina Kalfakakou
./. - c.1563C>G r.(?) p.(Ser521Arg) Parent #2 g.14029352C>G - ERCC4_000016 rs41552412 - - - DNA SEQ-NG-I 1 BrCa - F Dara, Arcadia Ithaca Greek no - 1 Despoina Kalfakakou
./. - c.1563C>G r.(?) p.(Ser521Arg) Parent #2 g.14029352C>G - ERCC4_000016 rs41552412 - - - DNA SEQ-NG-I 1 PGL2, Pheo - M Ariada, Etolia-Akarnania - Greek no - 1 Despoina Kalfakakou
./. - c.1563C>G r.(?) p.(Ser521Arg) Parent #2 g.14029352C>G - ERCC4_000016 rs41552412 - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
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