Full data view for gene ERCC2

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

224 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     

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.-24C>A r.(=) p.(=) Parent #2 g.45873822G>T - ERCC2_000090 - - Germline - - - - DNA SEQ-NG-I 1 NF - M Ano Pedina, Ioannina - Greek no - 2 Despoina Kalfakakou
?/? - c.5+6A>G r.(=) p.(=) Parent #2 g.45873788T>C - ERCC2_000129 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.5+45_5+46insG r.(=) p.(=) Parent #2 g.45873748_45873749insC - ERCC2_000003 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Aghios Matthaios, Corfu - Greek no - 1 Despoina Kalfakakou
?/? - c.5+45_5+46insG r.(=) p.(=) Parent #2 g.45873748_45873749insC - ERCC2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andros Athens Greek no - 1 Despoina Kalfakakou
?/? - c.5+45_5+46insG r.(=) p.(=) Parent #2 g.45873748_45873749insC - ERCC2_000003 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - F Chania, Crete Karditsa Greek no - 5 Despoina Kalfakakou
?/? - c.5+45_5+46insG r.(=) p.(=) Parent #2 g.45873748_45873749insC - ERCC2_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Xylagani, Rodhope - Greek no - 1 Despoina Kalfakakou
?/? - c.5+45_5+46insG r.(=) p.(=) Parent #2 g.45873748_45873749insC - ERCC2_000003 - - Germline - - - - DNA SEQ-NG-I 1 F, Schw - F Polistafilo, Preveza Preveza Greek no - 1 Despoina Kalfakakou
?/? - c.5+45_5+46insG r.(=) p.(=) Parent #2 g.45873748_45873749insC - ERCC2_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Livadia Karditsa Greek no - 1 Despoina Kalfakakou
?/? - c.5+45_5+46insG r.(=) p.(=) Parent #2 g.45873748_45873749insC - ERCC2_000003 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Halkidiki - Greek no - 1 Despoina Kalfakakou
?/? - c.6-11C>T r.(=) p.(=) Parent #2 g.45873501G>A - ERCC2_000098 - - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Aris, Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.6-5G>A r.spl? p.? Parent #2 g.45873495C>T - ERCC2_000030 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Spetses Laconia Greek no - 1 Despoina Kalfakakou
?/? - c.6-5G>A r.spl? p.? Parent #2 g.45873495C>T - ERCC2_000030 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Greece Romania Romanian no - 1 Despoina Kalfakakou
?/? - c.6-5G>A r.spl? p.? Parent #2 g.45873495C>T - ERCC2_000030 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ampelonas, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.6-5G>A r.spl? p.? Parent #2 g.45873495C>T - ERCC2_000030 - - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Achaea - Greek no - 1 Despoina Kalfakakou
?/? - c.6-5G>A r.spl? p.? Parent #2 g.45873495C>T - ERCC2_000030 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Grevena - Greek no - 1 Despoina Kalfakakou
?/? - c.57C>T r.(=) p.(=) Parent #2 g.45873439G>A - ERCC2_000029 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Drama Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.86A>C r.(?) p.(Lys29Thr) Parent #2 g.45873410T>G - ERCC2_000028 rs773018804 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene Athens Greek no - 1 Despoina Kalfakakou
?/? - c.105+32C>T r.(=) p.(=) Parent #2 g.45873359G>A - ERCC2_000069 - - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Gorgomylos, Preveza, Ammopotamos, Arta Greek no - 1 Despoina Kalfakakou
?/? - c.183+25A>G r.(=) p.(=) Parent #2 g.45872303T>C - ERCC2_000109 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
?/? - c.184-34C>T r.(=) p.(=) Parent #2 g.45872284G>A - ERCC2_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Milos Greek no - 2 Despoina Kalfakakou
?/? - c.184-6C>T r.(=) p.(=) Parent #2 g.45872256G>A - ERCC2_000105 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria - Greek no - 1 Despoina Kalfakakou
?/? - c.184-5G>T r.spl? p.? Parent #2 g.45872255C>A - ERCC2_000036 - - Germline - - - - DNA SEQ-NG-I 1 BladCa, CRC, PrCa - M Kamenianoi, Kalavryta - Greek no - 1 Despoina Kalfakakou
?/? - c.192G>A r.(=) p.(=) Parent #2 g.45872242C>T - ERCC2_000100 rs1337079900 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Corfu Megalopolis, Arcadia Greek no - 1 Despoina Kalfakakou
?/? - c.255A>G r.(=) p.(=) Parent #2 g.45871993T>C - ERCC2_000111 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia - Greek no - 1 Despoina Kalfakakou
?/? - c.275A>G r.(?) p.(Asn92Ser) Parent #2 g.45871973T>C - ERCC2_000070 rs780965895 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OvTer - F Evros Sesklo, Volos Greek no - 1 Despoina Kalfakakou
?/? - c.303G>C r.(?) p.(Lys101Asn) Parent #2 g.45871945C>G - ERCC2_000078 rs1182986304 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Argolis Greek no - 1 Despoina Kalfakakou
-?/-? - c.309G>A r.(=) p.(=) Parent #2 g.45871939C>T - ERCC2_000043 rs775235491 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno Kefalonia Greek no - 7 Despoina Kalfakakou
-?/-? - c.309G>A r.(=) p.(=) Parent #2 g.45871939C>T - ERCC2_000043 rs775235491 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kato Achaia Kalamata Greek no - 1 Despoina Kalfakakou
?/? - c.360+18C>T r.(=) p.(=) Parent #2 g.45871870G>A - ERCC2_000089 rs1799784 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Euboea Attika Greek no - 1 Despoina Kalfakakou
?/? - c.373C>T r.(?) p.(Arg125Cys) Parent #2 g.45868404G>A - ERCC2_000056 rs372425466 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kavala Sofades, Karditsa Greek no - 1 Despoina Kalfakakou
?/? - c.373C>T r.(?) p.(Arg125Cys) Parent #2 g.45868404G>A - ERCC2_000056 rs372425466 - Germline - - - - DNA SEQ-NG-I 1 CMM3 - F Piraeus Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.373C>T r.(?) p.(Arg125Cys) Parent #2 g.45868404G>A - ERCC2_000056 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
-?/-? - c.381G>A r.(=) p.(=) Parent #2 g.45868396C>T - ERCC2_000001 rs775235491 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Strimi, Rodopi Manesi, Argos Greek no - 1 Despoina Kalfakakou
-?/-? - c.381G>A r.(=) p.(=) Parent #2 g.45868396C>T - ERCC2_000001 rs775235491 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Agios Georgios, Phthiotis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.381G>A r.(=) p.(=) Parent #2 g.45868396C>T - ERCC2_000001 rs775235491 - Germline - - - - DNA SEQ-NG-I 1 PANCA - M Asia Minor Megara - - - 1 Despoina Kalfakakou
-/- - c.387C>T r.(=) p.(=) Parent #2 g.45868390G>A - ERCC2_000131 rs199993007 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andros Nemea Greek no - 1 Despoina Kalfakakou
+?/+? - c.390del r.(?) p.(Asp131Metfs*50) Parent #2 g.45868387del - ERCC2_000115 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Assos, Corinthia Vrachati, Corinthia Greek no - 1 Despoina Kalfakakou
?/? - c.402C>G r.(?) p.(Cys134Trp) Parent #2 g.45868375G>C - ERCC2_000077 rs767543274 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Acharnes - Greek no - 1 Despoina Kalfakakou
?/? - c.428G>A r.(?) p.(Arg143Gln) Parent #2 g.45868349C>T - ERCC2_000118 rs150000483 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
?/? - c.442C>T r.(?) p.(His148Tyr) Parent #2 g.45868335G>A - ERCC2_000083 rs201382232 - Germline - - - - DNA SEQ-NG-I 1 - - F Asia Minor Patras Greek no - 1 Despoina Kalfakakou
?/? - c.491A>G r.(?) p.(His164Arg) Parent #2 g.45868199T>C - ERCC2_000042 rs769656890 - Germline - - - - DNA SEQ-NG-I 1 CMM3, CRC - M Constantinople Smyrna Greek no - 1 Despoina Kalfakakou
?/? - c.557G>A r.(?) p.(Arg186His) Parent #2 g.45868133C>T - ERCC2_000055 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Neochori, Elis Lithochori, Evrytania Greek no - 1 Despoina Kalfakakou
+?/+? - c.594+2_594+5del r.spl? p.? Parent #2 g.45868091_45868094del - ERCC2_000107 rs762309206 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Agrinio - Greek no - 1 Despoina Kalfakakou
?/? - c.594+32G>A r.(=) p.(=) Parent #2 g.45868064C>T - ERCC2_000053 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Russia Pyrgos, Elis Greek no - 2 Despoina Kalfakakou
-?/-? - c.601C>T r.(?) p.(His201Tyr) Parent #2 g.45867799G>A - ERCC2_000031 rs1799792 - Germline - - - - DNA SEQ-NG-I 1 ColPol, Polyposis - M Messene, Messenia Armenia Greek no - 1 Despoina Kalfakakou
-?/-? - c.601C>T r.(?) p.(His201Tyr) Parent #2 g.45867799G>A - ERCC2_000031 rs1799792 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople - Greek no - 1 Despoina Kalfakakou
-?/-? - c.601C>T r.(?) p.(His201Tyr) Parent #2 g.45867799G>A - ERCC2_000031 rs1799792 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-?/-? - c.601C>T r.(?) p.(His201Tyr) Parent #2 g.45867799G>A - ERCC2_000031 rs1799792 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Kavala Greek no - 1 Despoina Kalfakakou
-?/-? - c.601C>T r.(?) p.(His201Tyr) Parent #2 g.45867799G>A - ERCC2_000031 rs1799792 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Euboea Attika Greek no - 1 Despoina Kalfakakou
?/? - c.615G>C r.(=) p.(=) Parent #2 g.45867785C>G - ERCC2_000076 rs368913401 - Germline - - - - DNA SEQ-NG-I 1 - - M Kilkis Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.679C>T r.(?) p.(Arg227Cys) Parent #2 g.45867721G>A - ERCC2_000027 rs137910235 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lamia - Greek no - 4 Despoina Kalfakakou
-/- - c.687C>T r.(=) p.(=) Parent #2 g.45867713G>A - ERCC2_000041 rs34021577 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa, Pella - Greek no - 1 Despoina Kalfakakou
?/? - c.718+14C>T r.(=) p.(=) Parent #2 g.45867668G>A - ERCC2_000013 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Nea Artaki, Chalkida - Greek no - 1 Despoina Kalfakakou
?/? - c.718+14C>T r.(=) p.(=) Parent #2 g.45867668G>A - ERCC2_000013 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mani Aliartos, Boeotia Greek no - 1 Despoina Kalfakakou
?/? - c.718+14C>T r.(=) p.(=) Parent #2 g.45867668G>A - ERCC2_000013 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese Piraeus Greek no - 1 Despoina Kalfakakou
+?/+? - c.816-2A>G r.spl? p.? Parent #2 g.45867379T>C - ERCC2_000054 rs746795177 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argostoli - Greek no - 1 Despoina Kalfakakou
?/? - c.839G>A r.(?) p.(Arg280His) Parent #2 g.45867354C>T - ERCC2_000128 rs755174338 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Elis & Athens / Mitilini & Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.946C>G r.(?) p.(Gln316Glu) Parent #2 g.45867247G>C - ERCC2_000026 rs757790912 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.949+9C>T r.(=) p.(=) Parent #2 g.45867235G>A - ERCC2_000057 rs529824119 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argostoli - Greek no - 1 Despoina Kalfakakou
-?/-? - c.949+9C>T r.(=) p.(=) Parent #2 g.45867235G>A - ERCC2_000057 rs529824119 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Veroia Greek no - 1 Despoina Kalfakakou
?/? - c.949+21_949+22insT r.(=) p.(=) Parent #2 g.45867222_45867223insA - ERCC2_000117 rs58206829 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F ─░zmir, Asia Minor - Greek no - 1 Despoina Kalfakakou
?/? - c.974C>T r.(?) p.(Thr325Met) Parent #2 g.45867145G>A - ERCC2_000068 rs530045760 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.1033C>T r.(?) p.(Arg345Cys) Parent #2 g.45867086G>A - ERCC2_000075 rs1201076330 - Germline - - - - DNA SEQ-NG-I 1 - - M - - - no - 1 Despoina Kalfakakou
?/? - c.1106G>A r.(?) p.(Arg369His) Parent #2 g.45867013C>T - ERCC2_000025 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Patra Greek no - 1 Despoina Kalfakakou
?/? - c.1106G>A r.(?) p.(Arg369His) Parent #2 g.45867013C>T - ERCC2_000025 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lampiotes, Rethymno - Greek no - 1 Despoina Kalfakakou
?/? - c.1106G>A r.(?) p.(Arg369His) Parent #2 g.45867013C>T - ERCC2_000025 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Kythira Greek no - 1 Despoina Kalfakakou
?/? - c.1106G>A r.(?) p.(Arg369His) Parent #2 g.45867013C>T - ERCC2_000025 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Rethimno Greek no - 1 Despoina Kalfakakou
?/? - c.1118+21C>T r.(=) p.(=) Parent #2 g.45866980G>A - ERCC2_000047 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
?/? - c.1118+29G>A r.(=) p.(=) Parent #2 g.45866972C>T - ERCC2_000101 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Moldova - Greek no - 1 Despoina Kalfakakou
?/? - c.1118+44C>T r.(=) p.(=) Parent #2 g.45866957G>A - ERCC2_000082 - - Germline - - - - DNA SEQ-NG-I 1 CUP, GaPol - F Larisa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1119-5G>A r.spl? p.? Parent #2 g.45864905C>T - ERCC2_000091 rs369538318 - Germline - - - - DNA SEQ-NG-I 1 CAL, HypPT, NDL, Pheo - M Nisyros Constantinople Greek no - 2 Despoina Kalfakakou
?/? - c.1146G>C r.(=) p.(=) Parent #2 g.45864873C>G - ERCC2_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CC - F Drama - Greek no - 1 Despoina Kalfakakou
?/? - c.1160A>C r.(?) p.(Glu387Ala) Parent #2 g.45864859T>G - ERCC2_000103 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Hydra Thera Greek no - 1 Despoina Kalfakakou
?/? - c.1188G>A r.(=) p.(=) Parent #2 g.45864831C>T - ERCC2_000040 rs1043637579 - Germline - - - - DNA SEQ-NG-I 1 CRC, NDL - F Chania, Crete Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.1214C>T r.(?) p.(Thr405Ile) Parent #2 g.45864805G>A - ERCC2_000106 rs752740153 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CHLC - F Elis Zante Greek no - 1 Despoina Kalfakakou
?/? - c.1230C>T r.(=) p.(=) Parent #2 g.45864789G>A - ERCC2_000024 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Serres Asia Minor Greek no - 2 Despoina Kalfakakou
?/? - c.1237+20T>A r.(=) p.(=) Parent #2 g.45864762A>T - ERCC2_000011 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Grevena Elassona Greek no - 1 Despoina Kalfakakou
?/? - c.1237+20T>A r.(=) p.(=) Parent #2 g.45864762A>T - ERCC2_000011 - - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Katerini - Greek no - 1 Despoina Kalfakakou
?/? - c.1237+20T>A r.(=) p.(=) Parent #2 g.45864762A>T - ERCC2_000011 - - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Pontus Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.1238-44G>T r.(=) p.(=) Parent #2 g.45861001C>A - ERCC2_000066 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno Heraklion Greek no - 1 Despoina Kalfakakou
?/? - c.1267G>A r.(?) p.(Asp423Asn) Parent #2 g.45860928C>T - ERCC2_000074 - - Germline - - - - DNA SEQ-NG-I 1 - - M Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.1307+14C>T r.(=) p.(=) Parent #2 g.45860874G>A - ERCC2_000119 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Karditsa Greek no - 1 Despoina Kalfakakou
?/? - c.1307+42G>A r.(=) p.(=) Parent #2 g.45860846C>T - ERCC2_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Crete Paiania Greek no - 1 Despoina Kalfakakou
?/? - c.1308-30_1308-29insC r.(=) p.(=) Parent #2 g.45860830_45860831insG - ERCC2_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Distomo, Boeotia - Greek no - 1 Despoina Kalfakakou
?/? - c.1308-30_1308-29insC r.(=) p.(=) Parent #2 g.45860830_45860831insG - ERCC2_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karystos, Evia - Greek no - 1 Despoina Kalfakakou
?/? - c.1308-22C>T r.(=) p.(=) Parent #2 g.45860823G>A - ERCC2_000088 - - Germline - - - - DNA SEQ-NG-I 1 TRC - F Erythres, Attika Pontus Greek no - 1 Despoina Kalfakakou
-?/-? - c.1308-10C>T r.(=) p.(=) Parent #2 g.45860811G>A - ERCC2_000097 rs202146136 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Karpathos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1308-10C>T r.(=) p.(=) Parent #2 g.45860811G>A - ERCC2_000097 rs202146136 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalymnos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1308-10C>T r.(=) p.(=) Parent #2 g.45860811G>A - ERCC2_000097 rs202146136 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
-?/-? - c.1308-10C>T r.(=) p.(=) Parent #2 g.45860811G>A - ERCC2_000097 rs202146136 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1317C>T r.(=) p.(=) Parent #2 g.45860792G>A - ERCC2_000023 rs200588470 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 3 Despoina Kalfakakou
-/- - c.1339G>A r.(?) p.(Val447Ile) Parent #2 g.45860770C>T - ERCC2_000033 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - Chania Greek no - 1 Despoina Kalfakakou
./. - c.1349G>A r.(?) p.(Arg450His) Parent #2 g.45860760C>T - ERCC2_000132 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Antissa, Lesvos Skalochori, Lesvos - - - 1 Stevi Xera
?/? - c.1377G>A r.(=) p.(=) Parent #2 g.45860732C>T - ERCC2_000046 - - Germline - - - - DNA SEQ-NG-I 1 CUP - F Kymi, Evia Limni, Evia Greek no - 1 Despoina Kalfakakou
-?/-? - c.1377+8C>T r.(=) p.(=) Parent #2 g.45860724G>A - ERCC2_000022 rs370862494 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lampiotes, Rethymno - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1377+8C>T r.(=) p.(=) Parent #2 g.45860724G>A - ERCC2_000022 rs370862494 - Germline - - - - DNA SEQ-NG-I 1 CMM3, CRC - M Constantinople Smyrna Greek no - 1 Despoina Kalfakakou
-?/-? - c.1377+16C>T r.(=) p.(=) Parent #2 g.45860716G>A - ERCC2_000096 rs372345067 - Germline - - - - DNA SEQ-NG-I 1 PGL2 - F Rhodes - Greek no - 4 Despoina Kalfakakou
?/? - c.1377+27A>G r.(=) p.(=) Parent #2 g.45860705T>C - ERCC2_000032 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Pyrgos, Ilia Gytheio Greek no - 1 Despoina Kalfakakou
?/? - c.1377+27A>G r.(=) p.(=) Parent #2 g.45860705T>C - ERCC2_000032 - - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Leros Pigi, Crete Greek no - 1 Despoina Kalfakakou
?/? - c.1378-37C>G r.(=) p.(=) Parent #2 g.45860666G>C - ERCC2_000009 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lesvos - Greek no - 3 Despoina Kalfakakou
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