Full data view for gene ERCC5

Information The variants shown are described using the NM_000123.3 transcript reference sequence.

242 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.46C>T r.(?) p.(Gln16*) Parent #2 g.103498662C>T - ERCC5_000034 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.55C>G r.(?) p.(Pro19Ala) Parent #2 g.103498671C>G - ERCC5_000080 - - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 Healthy/Control - F Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 Healthy/Control - F Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Platanos, Kissamos, Chania - Greek no - 4 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Livadi, Elassona Nea Trapezounta, Pieria Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 OVCA - F Messenia - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Laconia Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 ColPol, CRC - F Corfu Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - M Graika, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 Healthy/Control - F Kalamata Athens Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 AppCa - M Chania, Crete Mandra, Attika Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 Healthy/Control - F Drama Elis Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 ColPol, NDL - M Symi - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Rodia, Pineia - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Mandra, Attica Region - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Petra, Preveza Rizovouni, Preveza Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Duka, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 OVCA - F Larisa Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Plagia, Vonitsa, Aetolia-Acarnania - Greek no - 5 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 - - M Kilkis Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BKT - F Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 RCC - M Athens Samos Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 MDB - M Athens Chalkida Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Filiates, Thesprotia Kanalaki, Preveza Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 OVCA - F Xanthi - Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 BrCa - F Levaia, Florina Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - DNA SEQ-NG-I 1 OVCA - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) Both (homozygous) g.103504420G>A - ERCC5_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Crete Greek no - 1 Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) Parent #2 g.103504420G>A - ERCC5_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Epanomi, Thessaloniki Pontokerasia, Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) Parent #2 g.103504420G>A - ERCC5_000011 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) Parent #2 g.103504420G>A - ERCC5_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Epirus Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) Parent #2 g.103504420G>A - ERCC5_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Pella - Greek no - 1 Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) Parent #2 g.103504420G>A - ERCC5_000011 - - - - DNA SEQ-NG-I 1 PrCa - M Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) Parent #2 g.103504420G>A - ERCC5_000011 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.89-27A>G r.(=) p.(=) Parent #2 g.103504441A>G - ERCC5_000078 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.89-17A>G r.(=) p.(=) Parent #2 g.103504451A>G - ERCC5_000059 - - - - DNA SEQ-NG-I 1 BrCa - F Arta Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.89-10A>T r.(=) p.(=) Parent #2 g.103504458A>T - ERCC5_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.240T>G r.(=) p.(=) Parent #2 g.103504619T>G - ERCC5_000057 - - - - DNA SEQ-NG-I 1 OVCA - F Serres - Greek no - 1 Despoina Kalfakakou
./. - c.264+10G>A r.(=) p.(=) Parent #2 g.103504653G>A - ERCC5_000042 - - - - DNA SEQ-NG-I 1 BrCa - F Kamares, Aigaleia Skala, Nafpaktia Greek no - 3 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 OVCA - F Elis Achaea Greek no - 1 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 CRC - M Kria Vrisi, Giannitsa Armenoi, Messenia Greek no - 2 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 BrCa - F Agiovlastika, Achaia - Greek no - 1 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 AGCa - F Athanasios Diakos, Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 CRC - M Athanasios Diakos, Phocis - Greek no - 2 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 Healthy/Control - M Gargaliani, Messinia Mandra, Attiki Greek no - 1 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 ColPol - M Kalousi, Achaea - Greek no - 1 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Aigio Greek no - 1 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 BrCa - F Preveza - Greek no - 1 Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) Parent #2 g.103504677T>G - ERCC5_000033 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion Sitia Greek no - 1 Despoina Kalfakakou
./. - c.264+45T>C r.(=) p.(=) Parent #2 g.103504688T>C - ERCC5_000063 - - - - DNA SEQ-NG-I 1 BrCa - F Neraida, Karditsa Zigovisti, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.270G>A r.(=) p.(=) Parent #2 g.103506112G>A - ERCC5_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Veroia Greek no - 1 Despoina Kalfakakou
./. - c.270G>A r.(=) p.(=) Parent #2 g.103506112G>A - ERCC5_000013 - - - - DNA SEQ-NG-I 1 BrainCa - M Piraeus Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.274A>T r.(?) p.(Arg92Trp) Parent #2 g.103506116A>T - ERCC5_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Tripoli Alostaina, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.303C>G r.(?) p.(Asp101Glu) Parent #2 g.103506145C>G - ERCC5_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 2 Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) Parent #2 g.103506172G>A - ERCC5_000016 - - - - DNA SEQ-NG-I 1 OVCA - F Arta & Chios Agios Mattheos Corfu Greek no - 1 Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) Parent #2 g.103506172G>A - ERCC5_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Karlovasi, Samos - Greek no - 1 Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) Parent #2 g.103506172G>A - ERCC5_000016 - - - - DNA SEQ-NG-I 1 BrCa, UtPol - F Amfilochia Corinth Greek no - 1 Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) Parent #2 g.103506172G>A - ERCC5_000016 - - - - DNA SEQ-NG-I 1 - - F Kastoria Egypt Greek no - 1 Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) Parent #2 g.103506172G>A - ERCC5_000016 - - - - DNA SEQ-NG-I 1 OVCA - F Epirus - Greek no - 1 Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) Parent #2 g.103506172G>A - ERCC5_000016 - - - - DNA SEQ-NG-I 1 OVCA - F Sarandë - Greek no - 1 Despoina Kalfakakou
./. - c.369C>T r.(=) p.(=) Parent #2 g.103506211C>T - ERCC5_000081 - - - - DNA SEQ-NG-I 1 OVCA - F Gouves, Heraklion Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.381-23T>G r.(=) p.(=) Parent #2 g.103506615T>G - ERCC5_000037 - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Avlonas, Trifylia - Greek no - 1 Despoina Kalfakakou
./. - c.381-23T>G r.(=) p.(=) Parent #2 g.103506615T>G - ERCC5_000037 - - - - DNA SEQ-NG-I 1 BrCa - F Acres, Aetolia-Acarnania Thermopyles, Phtiotis Greek no - 1 Despoina Kalfakakou
./. - c.381-23T>G r.(=) p.(=) Parent #2 g.103506615T>G - ERCC5_000037 - - - - DNA SEQ-NG-I 1 OVCA - F Trabzon - Greek no - 1 Despoina Kalfakakou
./. - c.468-23G>C r.(=) p.(=) Parent #2 g.103508379G>C - ERCC5_000050 - - - - DNA SEQ-NG-I 1 BrCa - F Athikia, Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.468-23G>C r.(=) p.(=) Parent #2 g.103508379G>C - ERCC5_000050 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Georgia Greek no - 1 Despoina Kalfakakou
./. - c.468-23G>C r.(=) p.(=) Parent #2 g.103508379G>C - ERCC5_000050 - - - - DNA SEQ-NG-I 1 OVCA - F Samos - Greek no - 1 Despoina Kalfakakou
./. - c.468-23G>C r.(=) p.(=) Parent #2 g.103508379G>C - ERCC5_000050 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.516A>G r.(=) p.(=) Parent #2 g.103508450A>G - ERCC5_000072 - - - - DNA SEQ-NG-I 1 UtPol - F Chalkida Pontus Greek no - 3 Despoina Kalfakakou
./. - c.525A>G r.(=) p.(=) Parent #2 g.103508459A>G - ERCC5_000082 - - - - DNA SEQ-NG-I 1 OVCA - F Koronida , Naxos - Greek no - 1 Despoina Kalfakakou
./. - c.525A>G r.(=) p.(=) Parent #2 g.103508459A>G - ERCC5_000082 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Naxos Greek no - 1 Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) Parent #2 g.103510638A>G - ERCC5_000006 rs4150295 - - - DNA SEQ-NG-I 1 BrCa - F Nea Artaki, Chalkida - Greek no - 1 Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) Parent #2 g.103510638A>G - ERCC5_000006 rs4150295 - - - DNA SEQ-NG-I 1 BrCa - F Romania - Romanian no - 1 Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) Parent #2 g.103510638A>G - ERCC5_000006 rs4150295 - - - DNA SEQ-NG-I 1 OVCA - F Larisa Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) Parent #2 g.103510638A>G - ERCC5_000006 rs4150295 - - - DNA SEQ-NG-I 1 OVCA - F Messini - Greek no - 1 Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) Parent #2 g.103510638A>G - ERCC5_000006 rs4150295 - - - DNA SEQ-NG-I 1 BrCa - F Leontio, Patra Athamanio, Arta Greek no - 1 Despoina Kalfakakou
./. - c.641G>A r.(?) p.(Arg214His) Parent #2 g.103510737G>A - ERCC5_000060 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Corfu Greek no - 1 Despoina Kalfakakou
./. - c.672+6A>G r.(=) p.(=) Parent #2 g.103510774A>G - ERCC5_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Kato Achaia Thessaly Greek no - 1 Despoina Kalfakakou
./. - c.832T>A r.(?) p.(Ser278Thr) Parent #2 g.103514016T>A - ERCC5_000038 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kalavryta Agrinio Greek no - 1 Despoina Kalfakakou
./. - c.832T>A r.(?) p.(Ser278Thr) Parent #2 g.103514016T>A - ERCC5_000038 - - - - DNA SEQ-NG-I 1 BrCa - F Strousi, Elis Athens Greek no - 1 Despoina Kalfakakou
./. - c.869T>A r.(?) p.(Ile290Asn) Parent #2 g.103514053T>A - ERCC5_000055 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Asia Minor Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.880+9C>T r.(=) p.(=) Parent #2 g.103514073C>T - ERCC5_000070 - - - - DNA SEQ-NG-I 1 ENC - F Edessa - Greek no - 1 Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) Parent #2 g.103514350A>G - ERCC5_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) Parent #2 g.103514350A>G - ERCC5_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 2 Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) Parent #2 g.103514350A>G - ERCC5_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Argos Greek no - 1 Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) Parent #2 g.103514350A>G - ERCC5_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Sea of Marmara Arachnaio, Nafplio Greek no - 1 Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) Parent #2 g.103514350A>G - ERCC5_000018 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.881-26T>G r.(=) p.(=) Parent #2 g.103514354T>G - ERCC5_000054 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.886C>T r.(?) p.(Gln296*) Parent #2 g.103514385C>T - ERCC5_000056 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Mytilene Sparti Greek no - 1 Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) Parent #2 g.103514425C>T - ERCC5_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Argos Nemea, Corinth Greek no - 3 Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) Parent #2 g.103514425C>T - ERCC5_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Naxos Athens Greek no - 1 Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) Parent #2 g.103514425C>T - ERCC5_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) Parent #2 g.103514425C>T - ERCC5_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Poros Rado, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) Parent #2 g.103514425C>T - ERCC5_000019 - - - - DNA SEQ-NG-I 1 OVCA - F Amarynthos, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) Parent #2 g.103514425C>T - ERCC5_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Kranidi, Argolis Liksouri, Kefalonia Greek no - 1 Despoina Kalfakakou
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