Full data view for gene FANCL

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

113 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.-39A>G r.(=) p.(=) Parent #2 g.58468487T>C - FANCL_000009 rs41281511 - - - DNA SEQ-NG-I 1 OVCA - F Kranoula, Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.-39A>G r.(=) p.(=) Parent #2 g.58468487T>C - FANCL_000009 rs41281511 - - - DNA SEQ-NG-I 1 ColPol, CRC - M Constantinople Mytikas, Etolia-Akarnania Greek no - 1 Despoina Kalfakakou
./. - c.-39A>G r.(=) p.(=) Parent #2 g.58468487T>C - FANCL_000009 rs41281511 - - - DNA SEQ-NG-I 1 BrCa - F Kalymnos Naxos Greek no - 5 Despoina Kalfakakou
./. - c.-39A>G r.(=) p.(=) Parent #2 g.58468487T>C - FANCL_000009 rs41281511 - - - DNA SEQ-NG-I 1 BrCa - F Andros - Greek no - 1 Despoina Kalfakakou
./. - c.-39A>G r.(=) p.(=) Parent #2 g.58468487T>C - FANCL_000009 rs41281511 - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Leros Greek no - 1 Despoina Kalfakakou
./. - c.-39A>G r.(=) p.(=) Parent #2 g.58468487T>C - FANCL_000009 rs41281511 - - - DNA SEQ-NG-I 1 Pheo - M Syria - Syrian no - 1 Despoina Kalfakakou
./. - c.-39A>G r.(=) p.(=) Parent #2 g.58468487T>C - FANCL_000009 rs41281511 - - - DNA SEQ-NG-I 1 OVCA - F Athens Andros Greek no - 1 Despoina Kalfakakou
./. - c.-26T>A r.(=) p.(=) Parent #2 g.58468474A>T - FANCL_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus - Greek no - 1 Despoina Kalfakakou
./. - c.-26T>A r.(=) p.(=) Parent #2 g.58468474A>T - FANCL_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Reichea, Laconia - Greek no - 2 Despoina Kalfakakou
./. - c.-26T>A r.(=) p.(=) Parent #2 g.58468474A>T - FANCL_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.-26T>A r.(=) p.(=) Parent #2 g.58468474A>T - FANCL_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Symi Santorini Greek no - 1 Despoina Kalfakakou
./. - c.-26T>A r.(=) p.(=) Parent #2 g.58468474A>T - FANCL_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli Laurium Greek no - 1 Despoina Kalfakakou
./. - c.-26T>A r.(=) p.(=) Parent #2 g.58468474A>T - FANCL_000008 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-26T>A r.(=) p.(=) Parent #2 g.58468474A>T - FANCL_000008 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-26T>A r.(=) p.(=) Parent #2 g.58468474A>T - FANCL_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Aegina - Greek no - 1 Despoina Kalfakakou
./. - c.-3G>C r.(=) p.(=) Parent #2 g.58468451C>G - FANCL_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Evia Greek no - 1 Despoina Kalfakakou
./. - c.-3G>C r.(=) p.(=) Parent #2 g.58468451C>G - FANCL_000014 - - - - DNA SEQ-NG-I 1 OVCA - F Aliveri Prasino, Euboea Greek no - 3 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Grammatiko, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 BrCa - M Kyparissia Preveza Greek no - 1 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Athens Greek no - 1 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Mazaraki, Achaia Greek no - 4 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 3 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Liodora, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Vilia, Attica - Greek no - 1 Despoina Kalfakakou
./. - c.2T>C r.? p.? Parent #2 g.58468447A>G - FANCL_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Elis Lesvos Greek no - 1 Despoina Kalfakakou
./. - c.20G>C r.(?) p.(Ser7Thr) Parent #2 g.58468429C>G - FANCL_000042 - - - - DNA SEQ-NG-I 1 OVCA - F Serres - Greek no - 1 Despoina Kalfakakou
./. - c.50C>G r.(?) p.(Pro17Arg) Parent #2 g.58468399G>C - FANCL_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.96+40T>C r.(=) p.(=) Parent #2 g.58468313A>G - FANCL_000012 - - - - DNA SEQ-NG-I 1 CRC - M Piraeus Orestiada Greek no - 1 Despoina Kalfakakou
./. - c.96+40T>C r.(=) p.(=) Parent #2 g.58468313A>G - FANCL_000012 - - - - DNA SEQ-NG-I 1 Polyposis - M Mochos, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.96+40T>C r.(=) p.(=) Parent #2 g.58468313A>G - FANCL_000012 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.96+40T>C r.(=) p.(=) Parent #2 g.58468313A>G - FANCL_000012 - - - - DNA SEQ-NG-I 1 - - M Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.96+40T>C r.(=) p.(=) Parent #2 g.58468313A>G - FANCL_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Metsovo Zitsa, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.97-11A>G r.(=) p.(=) Parent #2 g.58459258T>C - FANCL_000021 - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Andros Athens Greek no - 1 Despoina Kalfakakou
./. - c.97-11A>G r.(=) p.(=) Parent #2 g.58459258T>C - FANCL_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Vavouri, Thesprotia - Greek no - 4 Despoina Kalfakakou
./. - c.97-11A>G r.(=) p.(=) Parent #2 g.58459258T>C - FANCL_000021 - - - - DNA SEQ-NG-I 1 ColPol - F Villia, Attica Region Elefsina Greek no - 1 Despoina Kalfakakou
./. - c.108C>G r.(?) p.(Phe36Leu) Parent #2 g.58459236G>C - FANCL_000033 - - - - DNA SEQ-NG-I 1 OBT, TRC - M Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.108C>G r.(?) p.(Phe36Leu) Parent #2 g.58459236G>C - FANCL_000033 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Naxos Greek no - 1 Despoina Kalfakakou
./. - c.112C>T r.(?) p.(Leu38Phe) Parent #2 g.58459232G>A - FANCL_000007 rs55849827 - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.112C>T r.(?) p.(Leu38Phe) Parent #2 g.58459232G>A - FANCL_000007 rs55849827 - - - DNA SEQ-NG-I 1 CRC - M Kefalonia Mani Greek no - 1 Despoina Kalfakakou
./. - c.112C>T r.(?) p.(Leu38Phe) Parent #2 g.58459232G>A - FANCL_000007 rs55849827 - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Asia Minor Oreini Nafpaktia Greek no - 1 Despoina Kalfakakou
./. - c.112C>T r.(?) p.(Leu38Phe) Parent #2 g.58459232G>A - FANCL_000007 rs55849827 - - - DNA SEQ-NG-I 1 - - M Athens - Greek no - 1 Despoina Kalfakakou
./. - c.112C>T r.(?) p.(Leu38Phe) Parent #2 g.58459232G>A - FANCL_000007 rs55849827 - - - DNA SEQ-NG-I 1 ENC, EnPol - F Asia Minor Rapsani, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.112C>T r.(?) p.(Leu38Phe) Parent #2 g.58459232G>A - FANCL_000007 rs55849827 - - - DNA SEQ-NG-I 1 ColPol, NF, RCC, Schw - F Agioi Pantes, Phocis Koniakos, Phocis Greek no - 1 Despoina Kalfakakou
./. - c.112C>T r.(?) p.(Leu38Phe) Parent #2 g.58459232G>A - FANCL_000007 rs55849827 - - - DNA SEQ-NG-I 1 OVCA - F Hydra Xanthi Greek no - 1 Despoina Kalfakakou
./. - c.112C>T r.(?) p.(Leu38Phe) Parent #2 g.58459232G>A - FANCL_000007 rs55849827 - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.203G>C r.(?) p.(Arg68Pro) Parent #2 g.58456962C>G - FANCL_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Trikala Crete Greek no - 1 Despoina Kalfakakou
./. - c.203G>C r.(?) p.(Arg68Pro) Parent #2 g.58456962C>G - FANCL_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Sparti Athens Athens Greek no - 1 Despoina Kalfakakou
./. - c.203G>C r.(?) p.(Arg68Pro) Parent #2 g.58456962C>G - FANCL_000002 - - - - DNA SEQ-NG-I 1 CRC - M Neos Marmaras, Halkidiki Serres Greek no - 1 Despoina Kalfakakou
./. - c.203G>C r.(?) p.(Arg68Pro) Parent #2 g.58456962C>G - FANCL_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Aegina Chania Greek no - 3 Despoina Kalfakakou
./. - c.203G>C r.(?) p.(Arg68Pro) Parent #2 g.58456962C>G - FANCL_000002 - - - - DNA SEQ-NG-I 1 ColPol - M Chania, Crete Kastellorizo Greek no - 1 Despoina Kalfakakou
./. - c.203G>C r.(?) p.(Arg68Pro) Parent #2 g.58456962C>G - FANCL_000002 - - - - DNA SEQ-NG-I 1 CRC, HNSCC, PrCa, TRC - M Kefalonia - Greek no - 2 Despoina Kalfakakou
./. - c.203G>C r.(?) p.(Arg68Pro) Parent #2 g.58456962C>G - FANCL_000002 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Vlachogianni, Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.203G>C r.(?) p.(Arg68Pro) Parent #2 g.58456962C>G - FANCL_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.203G>C r.(?) p.(Arg68Pro) Parent #2 g.58456962C>G - FANCL_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Northern Epirus Karkinagri, Icaria Greek no - 1 Despoina Kalfakakou
./. - c.217-2A>G r.spl? p.? Parent #2 g.58453921T>C - FANCL_000001 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.217-2A>G r.spl? p.? Parent #2 g.58453921T>C - FANCL_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.238C>G r.(?) p.(Leu80Val) Parent #2 g.58453898G>C - FANCL_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Plagia, Vonitsa, Aetolia-Acarnania - Greek no - 5 Despoina Kalfakakou
./. - c.238C>G r.(?) p.(Leu80Val) Parent #2 g.58453898G>C - FANCL_000030 - - - - DNA SEQ-NG-I 1 - - F Patras Attika Greek no - 1 Despoina Kalfakakou
./. - c.238C>G r.(?) p.(Leu80Val) Parent #2 g.58453898G>C - FANCL_000030 - - - - DNA SEQ-NG-I 1 GLM3 - M Nees Karye, Larisa Athens Greek no - 1 Despoina Kalfakakou
./. - c.273+3A>G r.spl? p.? Parent #2 g.58453860T>C - FANCL_000011 - - - - DNA SEQ-NG-I 1 OVCA - F Arta & Chios Agios Mattheos Corfu Greek no - 1 Despoina Kalfakakou
./. - c.273+17dup r.(=) p.(=) Parent #1 g.58453846dup - FANCL_000037 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Tripoli Greek no - 1 Despoina Kalfakakou
./. - c.273+17_273+19del r.(=) p.(=) Parent #2 g.58453844_58453846del - FANCL_000036 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Tripoli Greek no - 1 Despoina Kalfakakou
./. - c.374+41A>G r.(=) p.(=) Parent #2 g.58449036T>C - FANCL_000040 - - - - DNA SEQ-NG-I 1 BrCa - F Sea of Marmara Arachnaio, Nafplio Greek no - 1 Despoina Kalfakakou
./. - c.375-36C>T r.(=) p.(=) Parent #2 g.58431397G>A - FANCL_000032 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Samos - Greek no - 1 Despoina Kalfakakou
./. - c.472-21A>G r.(=) p.(=) Parent #2 g.58425818T>C - FANCL_000031 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.626T>C r.(?) p.(Met209Thr) Parent #2 g.58392939A>G - FANCL_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Karpathos - Greek no - 1 Despoina Kalfakakou
./. - c.637G>A r.(?) p.(Asp213Asn) Parent #2 g.58392928C>T - FANCL_000034 - - - - DNA SEQ-NG-I 1 PrCa - M Euboea Attika Greek no - 1 Despoina Kalfakakou
./. - c.685A>G r.(?) p.(Thr229Ala) Parent #2 g.58392880T>C - FANCL_000024 - - - - DNA SEQ-NG-I 1 ColPol, GaPol - F Karavomylos, Mani Stylida Greek no - 1 Despoina Kalfakakou
./. - c.685A>G r.(?) p.(Thr229Ala) Parent #2 g.58392880T>C - FANCL_000024 - - - - DNA SEQ-NG-I 1 GaPol - F Grevena - Greek no - 1 Despoina Kalfakakou
./. - c.706+22G>C r.(=) p.(=) Parent #2 g.58392837C>G - FANCL_000028 - - - - DNA SEQ-NG-I 1 BrCa, OVCA, PANCA, SIC - F Lilaia, Phocis - Greek no - 4 Despoina Kalfakakou
./. - c.706+22G>C r.(=) p.(=) Parent #2 g.58392837C>G - FANCL_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Myticas, Aetolia-Acarnania Meganisi, Lefkas Greek no - 1 Despoina Kalfakakou
./. - c.707-43G>A r.(=) p.(=) Parent #2 g.58390695C>T - FANCL_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Chania Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.721A>G r.(?) p.(Ile241Val) Parent #2 g.58390638T>C - FANCL_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.721A>G r.(?) p.(Ile241Val) Parent #2 g.58390638T>C - FANCL_000010 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Vachlia, Arcadia Kardaritsi, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.791-42G>C r.(=) p.(=) Parent #2 g.58390251C>G - FANCL_000038 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.791-8A>T r.(=) p.(=) Parent #2 g.58390217T>A - FANCL_000022 - - - - DNA SEQ-NG-I 1 ColPol, CRC, LuCa, NDL, Polyposis - M - - Greek no - 1 Despoina Kalfakakou
./. - c.791-8A>T r.(=) p.(=) Parent #2 g.58390217T>A - FANCL_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Kythira Greek no - 1 Despoina Kalfakakou
./. - c.837-15_837-14insT r.(=) p.(=) Parent #2 g.58390096_58390097insA - FANCL_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Anthones, Elis Athens Greek no - 4 Despoina Kalfakakou
./. - c.837-15_837-14insT r.(=) p.(=) Parent #2 g.58390096_58390097insA - FANCL_000029 - - - - DNA SEQ-NG-I 1 OVCA - F Plaka, Achaea Corfu Greek no - 1 Despoina Kalfakakou
./. - c.837-15_837-14insT r.(=) p.(=) Parent #2 g.58390096_58390097insA - FANCL_000029 - - - - DNA SEQ-NG-I 1 OVCA - F ─░stanbul Kozani Greek no - 1 Despoina Kalfakakou
./. - c.837-15_837-14insT r.(=) p.(=) Parent #2 g.58390096_58390097insA - FANCL_000029 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.837-15_837-14insT r.(=) p.(=) Parent #2 g.58390096_58390097insA - FANCL_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Athens United Kingdom Greek no - 1 Despoina Kalfakakou
./. - c.855G>C r.(=) p.(=) Parent #2 g.58390064C>G - FANCL_000025 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trikala Lesvos Greek no - 1 Despoina Kalfakakou
./. - c.887A>T r.(?) p.(Asp296Val) Parent #2 g.58390032T>A - FANCL_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Amygdalies, Elis Rhodes Greek no - 2 Despoina Kalfakakou
./. - c.888T>C r.(=) p.(=) Parent #2 g.58390031A>G - FANCL_000004 - - - - DNA SEQ-NG-I 1 BrCa - M Agios Nikolaos, Lasithi - Greek no - 1 Despoina Kalfakakou
./. - c.918+4A>G r.spl? p.? Parent #2 g.58389997T>C - FANCL_000041 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.919-29C>T r.(=) p.(=) Parent #2 g.58388802G>A - FANCL_000016 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.919-29C>T r.(=) p.(=) Parent #2 g.58388802G>A - FANCL_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Ageliana, Rethymn Livadia, Rethymn Greek no - 1 Despoina Kalfakakou
./. - c.928A>G r.(?) p.(Met310Val) Parent #2 g.58388764T>C - FANCL_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Argostoli - Greek no - 1 Despoina Kalfakakou
./. - c.1022_1024del r.(?) p.(Ile341_Cys342delinsSer) Parent #2 g.58388668_58388670del - FANCL_000039 - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.1035+46A>G r.(=) p.(=) Parent #2 g.58388611T>C - FANCL_000015 - - - - DNA SEQ-NG-I 1 BrCa - M Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.1035+46A>G r.(=) p.(=) Parent #2 g.58388611T>C - FANCL_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 3 Despoina Kalfakakou
./. - c.1035+46A>G r.(=) p.(=) Parent #2 g.58388611T>C - FANCL_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Gialtra, Aidipsos East Mani Greek no - 1 Despoina Kalfakakou
./. - c.1035+46A>G r.(=) p.(=) Parent #2 g.58388611T>C - FANCL_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Katerini - Greek no - 2 Despoina Kalfakakou
./. - c.1035+46A>G r.(=) p.(=) Parent #2 g.58388611T>C - FANCL_000015 - - - - DNA SEQ-NG-I 1 GC - F Serres Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1035+46A>G r.(=) p.(=) Parent #2 g.58388611T>C - FANCL_000015 - - - - DNA SEQ-NG-I 1 GC - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.1035+46A>G r.(=) p.(=) Parent #2 g.58388611T>C - FANCL_000015 - - - - DNA SEQ-NG-I 1 BrCa, GaPol - F Petrino, Karditsa - Greek no - 1 Despoina Kalfakakou
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