Full data view for gene RECQL4

Information The variants shown are described using the NM_004260.3 transcript reference sequence.

722 entries on 8 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.14G>T - p.? Parent #2 g.145743155C>A - RECQL4_000143 - - Germline - - - - DNA SEQ-NG-I 1 AML, BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.25G>A - p.? Parent #2 g.145743144C>T - RECQL4_000102 rs1035057882 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
?/? - c.37G>T - p.? Parent #2 g.145743132C>A - RECQL4_000133 rs747356389 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia Laconia Greek no - 1 Despoina Kalfakakou
?/? - c.52T>C - p.? Parent #2 g.145743117A>G - RECQL4_000101 rs941281893 - Germline - - - - DNA SEQ-NG-I 1 ColPol, GaPol, TRC - F Elefsina Kalymnos Greek no - 1 Despoina Kalfakakou
?/? - c.55C>G - p.? Parent #2 g.145743114G>C - RECQL4_000182 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Italy - Italian no - 1 Despoina Kalfakakou
?/? - c.118+43C>T - p.? Parent #2 g.145742943G>A - RECQL4_000201 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Armenia Heraklion Greek no - 1 Despoina Kalfakakou
?/? - c.119-42C>T - p.? Parent #2 g.145742934G>A - RECQL4_000194 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
?/? - c.119-17C>T - p.? Parent #2 g.145742909G>A - RECQL4_000189 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Hydra Thera Greek no - 1 Despoina Kalfakakou
-/- - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - DNA SEQ-NG-I 1 BrCa, ColPol - F Volos - Greek no - 1 Despoina Kalfakakou
-/- - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Geraneia, Elassona - Greek no - 1 Despoina Kalfakakou
-/- - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
-/- - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - DNA SEQ-NG-I 1 AoVCa - M Chalkidiki - Greek no - 1 Despoina Kalfakakou
-/- - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Asia Minor Rethimno Greek no - 1 Despoina Kalfakakou
-/- - c.195C>G - p.? Parent #2 g.145742816G>C - RECQL4_000217 rs369163654 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nea Figaleia, Elis Taxiarchis, Olympia Greek no - 1 Despoina Kalfakakou
-/- - c.213+6del - p.? Parent #2 g.145742792del - RECQL4_000178 rs535285068 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Phocis Athes Greek no - 1 Despoina Kalfakakou
-/- - c.213+6del - p.? Parent #2 g.145742792del - RECQL4_000178 rs535285068 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Macedonia/Pontus Macedonia/Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.214-5T>G r.spl? p.? Parent #2 g.145742579A>C - RECQL4_000052 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.251G>A - p.? Parent #2 g.145742537C>T - RECQL4_000188 rs745596664 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thrace & Epirus ─░zmir Greek no - 1 Despoina Kalfakakou
?/? - c.255T>G - p.? Parent #2 g.145742533A>C - RECQL4_000210 rs1163167976 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vagia, Thebes Ioannina Greek no - 1 Despoina Kalfakakou
-/- - c.300C>T - p.? Parent #2 g.145742488G>A - RECQL4_000068 rs34496005 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 4 Despoina Kalfakakou
-/- - c.300C>T - p.? Parent #2 g.145742488G>A - RECQL4_000068 rs34496005 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tinos & Kythira Chios & Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Marathonas Athens Greek no - 2 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argos - Greek no - 1 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Kalamata Greek no - 1 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kos Kalymnos Greek no - 1 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 2 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 3 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Armenades, Corfu - Greek no - 1 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 ALL, BrCa - F Filiatra, Messinia - Greek no - 1 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lefkada - Greek no - 1 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
-/- - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Messini - Greek no - 5 Despoina Kalfakakou
?/? - c.355-37C>T - p.? Parent #2 g.145742185G>A - RECQL4_000067 rs34116880 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 4 Despoina Kalfakakou
?/? - c.355-37C>T - p.? Parent #2 g.145742185G>A - RECQL4_000067 rs34116880 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tinos & Kythira Chios & Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.355-24G>A - p.? Parent #2 g.145742172C>T - RECQL4_000128 rs35058172 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amfilochia Xiromero, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
?/? - c.355-24G>A - p.? Parent #2 g.145742172C>T - RECQL4_000128 rs35058172 - Germline - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Samos - Greek no - 1 Despoina Kalfakakou
?/? - c.355-24G>A - p.? Parent #2 g.145742172C>T - RECQL4_000128 rs35058172 - Germline - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Asia Minor Rethimno Greek no - 1 Despoina Kalfakakou
?/? - c.355-24G>A - p.? Parent #2 g.145742172C>T - RECQL4_000128 rs35058172 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Athens Andros - - - 1 Despoina Kalfakakou
?/? - c.355-24G>C - p.? Parent #1 g.145742172C>G - RECQL4_000212 rs35058172 - Germline - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Asia Minor Rethimno Greek no - 1 Despoina Kalfakakou
-/- - c.355-8C>T - p.? Parent #2 g.145742156G>A - RECQL4_000117 rs368782236 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Dafnias Agrinio Greek no - 1 Despoina Kalfakakou
?/? - c.358G>A - p.? Parent #2 g.145742145C>T - RECQL4_000225 rs571635676 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion Lasithi Greek no - 2 Despoina Kalfakakou
?/? - c.391G>C - p.? Parent #2 g.145742112C>G - RECQL4_000125 rs561427528 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Asia Minor Oreini Nafpaktia Greek no - 1 Despoina Kalfakakou
-/- - c.465C>G - p.? Parent #2 g.145742038G>C - RECQL4_000116 rs116137512 - Germline - - - - DNA SEQ-NG-I 1 CUP - F Kymi, Evia Limni, Evia Greek no - 1 Despoina Kalfakakou
-/- - c.465C>G - p.? Parent #2 g.145742038G>C - RECQL4_000116 rs116137512 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia Limni, Evia Greek no - 2 Despoina Kalfakakou
-/- - c.465C>G - p.? Parent #2 g.145742038G>C - RECQL4_000116 rs116137512 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.486C>A - p.? Parent #2 g.145742017G>T - RECQL4_000231 rs955555365 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
-?/-? - c.514C>T - p.? Parent #2 g.145741989G>A - RECQL4_000099 rs188859497 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
?/? - c.535C>T - p.? Parent #2 g.145741968G>A - RECQL4_000066 rs1308038651 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese - Greek no - 1 Despoina Kalfakakou
?/? - c.535C>T - p.? Parent #2 g.145741968G>A - RECQL4_000066 rs1308038651 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gargalianoi Messenia Athens & Kalavryta Greek no - 1 Despoina Kalfakakou
?/? - c.539G>A - p.? Parent #2 g.145741964C>T - RECQL4_000187 rs1060501378 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.539G>A - p.? Parent #2 g.145741964C>T - RECQL4_000187 rs1060501378 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Zarko, Trikala - Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 CRC, GaPol - F Chania, Crete Euboea Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Derveni, Corinthia - Greek no - 2 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eastern Thrace - Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Grammatiko, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 BrCa, EnPol - F Aigio - Greek no - 3 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Polikarpi, Pella Chania Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Velesiotes, Domokos Ano Agoriani, Domokos Greek no - 3 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Zoodochos, Ioannina - Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 OBT, PNCA2 - M Edessa Pentapoli, Serres Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Trikala Larisa Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria Bulgaria / Northern Greece Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karya, Elassona Kallipefki, Larisa Greek no - 1 Despoina Kalfakakou
-/- - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Omvriaki, Domocos - Greek no - 1 Despoina Kalfakakou
?/? - c.563C>T - p.? Parent #2 g.145741940G>A - RECQL4_000200 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Skoytera, Agrinio - Greek no - 1 Despoina Kalfakakou
-/- - c.615C>G - p.? Parent #2 g.145741888G>C - RECQL4_000051 rs35639991 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Megalopoli, Arcadia Chania Greek no - 4 Despoina Kalfakakou
?/? - c.666T>C - p.? Parent #2 g.145741837A>G - RECQL4_000089 rs752965461 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kali Komi, Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.705G>A - p.? Parent #2 g.145741798C>T - RECQL4_000124 rs1177971610 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Symi Leros Greek no - 1 Despoina Kalfakakou
?/? - c.711A>G - p.? Parent #2 g.145741792T>C - RECQL4_000123 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argostoli - Greek no - 1 Despoina Kalfakakou
-/- - c.716C>T - p.? Parent #2 g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Corfu - Greek no - 5 Despoina Kalfakakou
-/- - c.716C>T - p.? Parent #2 g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - DNA SEQ-NG-I 1 BladCa, CRC, PrCa - M Kamenianoi, Kalavryta - Greek no - 1 Despoina Kalfakakou
-/- - c.716C>T - p.? Parent #2 g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Morocco - Moroccan no - 1 Despoina Kalfakakou
-/- - c.716C>T - p.? Parent #2 g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Constantinople Greek no - 2 Despoina Kalfakakou
?/? - c.816C>G - p.? Parent #2 g.145741687G>C - RECQL4_000030 rs761367573 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.816C>G - p.? Parent #2 g.145741687G>C - RECQL4_000030 rs761367573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kali Vrisi, Drama - Greek no - 1 Despoina Kalfakakou
-?/-? - c.817G>A - p.? Parent #2 g.145741686C>T - RECQL4_000155 rs34103564 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.817G>A - p.? Parent #2 g.145741686C>T - RECQL4_000155 rs34103564 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
?/? - c.862G>A - p.? Parent #2 g.145741641C>T - RECQL4_000029 rs199706417 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Filiatra, Messinia Zacharo, Elis Greek no - 1 Despoina Kalfakakou
?/? - c.862G>A - p.? Parent #2 g.145741641C>T - RECQL4_000029 rs199706417 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 1 Despoina Kalfakakou
?/? - c.970C>T - p.? Parent #2 g.145741533G>A - RECQL4_000090 rs781105713 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Grammatiko, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
-?/-? - c.1071C>T - p.? Parent #2 g.145741432G>A - RECQL4_000163 rs747857375 - Germline - - - - DNA SEQ-NG-I 1 GC - F Nigrita Serres Greek no - 1 Despoina Kalfakakou
?/? - c.1072A>G - p.? Parent #2 g.145741431T>C - RECQL4_000230 rs371503929 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.1085A>G - p.? Parent #2 g.145741418T>C - RECQL4_000223 rs1016687510 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Peta, Artas - Greek no - 1 Despoina Kalfakakou
?/? - c.1086C>G - p.? Parent #2 g.145741417G>C - RECQL4_000115 - - Germline - - - - DNA SEQ-NG-I 1 CRC - M Pontus Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.1090G>A - p.? Parent #2 g.145741413C>T - RECQL4_000216 rs144637135 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nea Figaleia, Elis Taxiarchis, Olympia Greek no - 1 Despoina Kalfakakou
?/? - c.1131+42C>T - p.? Parent #2 g.145741330G>A - RECQL4_000118 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - M Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.1131+44del - p.? Parent #2 g.145741328del - RECQL4_000199 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Kalamata Greek no - 1 Despoina Kalfakakou
?/? - c.1132-27T>C - p.? Parent #2 g.145741301A>G - RECQL4_000028 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - DNA SEQ-NG-I 1 BladCa, BrCa, HNSCC - M Epanomi, Thessaloniki - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 2 Despoina Kalfakakou
-?/-? - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Kymi, Euboea - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1176T>G - p.? Parent #2 g.145741230A>C - RECQL4_000197 rs1054027953 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
?/? - c.1187C>T - p.? Parent #2 g.145741219G>A - RECQL4_000226 rs752564961 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Livadi, Elassona - Greek no - 2 Despoina Kalfakakou
?/? - c.1207T>C - p.? Parent #2 g.145741199A>G - RECQL4_000027 rs754788578 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Sparti - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1237G>A - p.? Parent #2 g.145741169C>T - RECQL4_000026 rs531310005 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
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