Full data view for gene ERCC5

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

422 entries on 5 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.-11G>T r.(=) p.(=) Parent #2 g.103498606G>T - ERCC5_000097 - - Germline - - - - DNA SEQ-NG-I - BrCa, CRC, RCC - F - - - no - 1 Despoina Kalfakakou
+?/+? - c.46C>T r.(?) p.(Gln16*) Parent #2 g.103498662C>T - ERCC5_000034 - - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
?/? - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - Germline - - - - 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 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
?/? - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - Germline - - - - DNA SEQ-NG-I 1 TSC1 - F - - - - - 1 Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - - - - DNA SEQ-NG-I 1 BrCa - F Gjirokaster, Albania - - - - 1 Stevi Xera
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - - - - DNA SEQ-NG-I 1 BrCa - F Fostaina, Achaea Athani, Lefkada - - - 4 Stevi Xera
./. - c.56C>T r.(?) p.(Pro19Leu) Parent #2 g.103498672C>T - ERCC5_000012 rs34291397 - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Trikala Naousa - - - 1 Stevi Xera
?/? - c.88+17G>A r.(=) p.(=) Parent #2 g.103498721G>A - ERCC5_000090 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Livadi, Elassona - Greek no - 2 Despoina Kalfakakou
?/? - c.88+17G>A r.(=) p.(=) Parent #2 g.103498721G>A - ERCC5_000090 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.89-48G>A r.(=) p.(=) Both (homozygous) g.103504420G>A - ERCC5_000011 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.89-48G>A r.(=) p.(=) Parent #2 g.103504420G>A - ERCC5_000011 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Rhodes - Greek no - 1 Despoina Kalfakakou
?/? - c.89-27A>G r.(=) p.(=) Parent #2 g.103504441A>G - ERCC5_000078 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 rs760695391 - Germline - - - - 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 rs760695391 - Germline - - - - 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 rs764029659 - Germline - - - - 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 rs150741329 - Germline - - - - 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 rs772275078 - Germline - - - - 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 rs772275078 - Germline - - - - 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 rs772275078 - Germline - - - - 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 rs772275078 - Germline - - - - 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 rs772275078 - Germline - - - - 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 rs772275078 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Sarandë - Greek no - 1 Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) Parent #2 g.103506172G>A - ERCC5_000016 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Istanbul Mikra Asia - - - 1 Stevi Xera
?/? - c.369C>T r.(=) p.(=) Parent #2 g.103506211C>T - ERCC5_000081 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 CRC, Polyposis - M Drama - Greek no - 1 Despoina Kalfakakou
?/? - c.381-23T>G r.(=) p.(=) Parent #2 g.103506615T>G - ERCC5_000037 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 rs751121250 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Leontio, Patra Athamanio, Arta 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 Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
./. - c.542A>G r.(?) p.(His181Arg) Parent #2 g.103510638A>G - ERCC5_000006 rs4150295 - - - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Elliniko,Arcadia & Agoriani, Laconia - - - 3 Stevi Xera
?/? - c.584G>A r.(?) p.(Ser195Asn) Parent #2 g.103510680G>A - ERCC5_000095 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.584G>A r.(?) p.(Ser195Asn) Parent #2 g.103510680G>A - ERCC5_000095 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
-/- - c.641G>A r.(?) p.(Arg214His) Parent #2 g.103510737G>A - ERCC5_000060 rs146833751 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Strousi, Elis Athens Greek no - 1 Despoina Kalfakakou
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