Full data view for gene PMS1

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

132 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     

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.-5C>A r.(=) p.(=) Parent #2 g.190656531C>A - PMS1_000019 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Valimitika, Aigio Kymi, Evia Greek no - 3 Despoina Kalfakakou
?/? - c.132+38A>C r.(=) p.(=) Parent #2 g.190656705A>C - PMS1_000039 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Karystos Greek no - 1 Despoina Kalfakakou
?/? - c.133-37T>C r.(=) p.(=) Parent #2 g.190660458T>C - PMS1_000047 - - Germline - - - - DNA SEQ-NG-I 1 NF - F Monemvasia Spetses Greek no - 1 Despoina Kalfakakou
?/? - c.133-37T>C r.(=) p.(=) Parent #2 g.190660458T>C - PMS1_000047 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.163C>T r.(?) p.(Arg55*) Parent #2 g.190660525C>T - PMS1_000027 rs375147123 - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Anogia, Laconia - Greek no - 2 Despoina Kalfakakou
+/+ - c.163C>T r.(?) p.(Arg55*) Parent #2 g.190660525C>T - PMS1_000027 rs375147123 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese Karystos Greek no - 1 Despoina Kalfakakou
+/+ - c.163C>T r.(?) p.(Arg55*) Parent #2 g.190660525C>T - PMS1_000027 rs375147123 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pesta, Ioannina - Greek no - 3 Despoina Kalfakakou
?/? - c.171C>T r.(=) p.(=) Parent #2 g.190660533C>T - PMS1_000020 rs756254396 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Corfu Greek no - 1 Despoina Kalfakakou
?/? - c.171C>T r.(=) p.(=) Parent #2 g.190660533C>T - PMS1_000020 rs756254396 - Germline - - - - DNA SEQ-NG-I 1 BrCa, ColPol, SkCa, TRC - F Stolos, Kynouria Elaiochorio, Kynouria Greek no - 1 Despoina Kalfakakou
?/? - c.171C>T r.(=) p.(=) Parent #2 g.190660533C>T - PMS1_000020 rs756254396 - Germline - - - - DNA SEQ-NG-I 1 - - F Corinthia Lesvos Greek no - 1 Despoina Kalfakakou
?/? - c.171C>T r.(=) p.(=) Parent #2 g.190660533C>T - PMS1_000020 rs756254396 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eleochori, Arcadia - Greek no - 1 Despoina Kalfakakou
-/- - c.174G>T r.(=) p.(=) Parent #2 g.190660536G>T - PMS1_000002 rs143323454 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.174G>T r.(=) p.(=) Parent #2 g.190660536G>T - PMS1_000002 rs143323454 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chaeronea, Boeotia - Greek no - 1 Despoina Kalfakakou
-/- - c.174G>T r.(=) p.(=) Parent #2 g.190660536G>T - PMS1_000002 rs143323454 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.175G>A r.(?) p.(Glu59Lys) Parent #2 g.190660537G>A - PMS1_000003 rs143265397 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.175G>A r.(?) p.(Glu59Lys) Parent #2 g.190660537G>A - PMS1_000003 rs143265397 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chaeronea, Boeotia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.175G>A r.(?) p.(Glu59Lys) Parent #2 g.190660537G>A - PMS1_000003 rs143265397 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.188C>G r.(?) p.(Ala63Gly) Parent #2 g.190660550C>G - PMS1_000053 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Symi Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
?/? - c.224C>T r.(?) p.(Thr75Ile) Parent #2 g.190660586C>T - PMS1_000004 rs61756360 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Nea Flogita, Chalkidiki Greek no - 1 Despoina Kalfakakou
?/? - c.278G>A r.(?) p.(Arg93His) Parent #2 g.190660640G>A - PMS1_000005 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lefkada Zakynthos Greek no - 1 Despoina Kalfakakou
?/? - c.278G>A r.(?) p.(Arg93His) Parent #2 g.190660640G>A - PMS1_000005 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Agios Georgios, Pella - Greek no - 1 Despoina Kalfakakou
?/? - c.316-4C>G r.spl? p.? Parent #2 g.190670374C>G - PMS1_000023 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Grammatiko, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
?/? - c.492A>G r.(=) p.(=) Parent #2 g.190682816A>G - PMS1_000061 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messini, Messenia Manesi, Messenia - - - 1 Despoina Kalfakakou
?/? - c.582+18T>C r.(=) p.(=) Parent #2 g.190682924T>C - PMS1_000060 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.582+23A>G r.(=) p.(=) Parent #2 g.190682929A>G - PMS1_000043 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Tripoli Soufli Greek no - 2 Despoina Kalfakakou
?/? - c.582+42A>G r.(=) p.(=) Parent #2 g.190682948A>G - PMS1_000055 rs56132913 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Philippines - Filipino no - 1 Despoina Kalfakakou
?/? - c.583-50T>C r.(=) p.(=) Parent #2 g.190708640T>C - PMS1_000032 rs5743111 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
?/? - c.596A>C r.(?) p.(Gln199Pro) Parent #2 g.190708703A>C - PMS1_000038 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Larisa Greek no - 1 Despoina Kalfakakou
./. - c.605G>A r.(?) p.(Arg202Lys) Parent #2 g.190708712G>A - PMS1_000062 rs2066459 - - - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - - - - 1 Stevi Xera
./. - c.605G>A r.(?) p.(Arg202Lys) Parent #2 g.190708712G>A - PMS1_000062 rs2066459 - - - - - - DNA SEQ-NG-I 1 BrCa, GIST - F Arta & Trikala & Distrato, Ioannina Istanbul - - - 1 Stevi Xera
./. - c.605G>A r.(?) p.(Arg202Lys) Parent #2 g.190708712G>A - PMS1_000062 rs2066459 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
./. - c.605G>A r.(?) p.(Arg202Lys) Parent #2 g.190708712G>A - PMS1_000062 rs2066459 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens & Kavala Rafina & Komotini - - - 1 Stevi Xera
./. - c.605G>A r.(?) p.(Arg202Lys) Parent #2 g.190708712G>A - PMS1_000062 rs2066459 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada,Phthiotis Paleovracha,Phthiotis - - - 1 Stevi Xera
+/+ - c.793C>T r.(?) p.(Arg265*) Parent #2 g.190717474C>T - PMS1_000035 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kalavryta - Greek no - 1 Despoina Kalfakakou
+/+ - c.793C>T r.(?) p.(Arg265*) Parent #2 g.190717474C>T - PMS1_000035 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra Livadeia Greek no - 1 Despoina Kalfakakou
?/? - c.800T>A r.(?) p.(Val267Glu) Parent #2 g.190717481T>A - PMS1_000045 - - Germline - - - - DNA SEQ-NG-I 1 AoVCa - M Chalkidiki - Greek no - 1 Despoina Kalfakakou
?/? - c.822+38A>C r.(=) p.(=) Parent #2 g.190717541A>C - PMS1_000048 rs367952807 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Lakkopetra, Achaea - Greek no - 1 Despoina Kalfakakou
?/? - c.822+38A>C r.(=) p.(=) Parent #2 g.190717541A>C - PMS1_000048 rs367952807 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
?/? - c.822+52_822+53insT r.(=) p.(=) Parent #2 g.190717555_190717556insT - PMS1_000031 rs56050321 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
?/? - c.823-35T>C r.(=) p.(=) Parent #2 g.190718630T>C - PMS1_000044 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, SCT - F Athens Crete Greek no - 1 Despoina Kalfakakou
?/? - c.823-14A>G r.(=) p.(=) Parent #2 g.190718651A>G - PMS1_000056  rs368186524 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
+/+ - c.829C>T r.(?) p.(Arg277*) Parent #2 g.190718671C>T - PMS1_000006 rs768246348 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.868C>T r.(?) p.(Arg290Cys) Parent #2 g.190718710C>T - PMS1_000063 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes Alexandroupolis - - - 1 Stevi Xera
?/? - c.966+5C>T r.spl? p.? Parent #2 g.190718813C>T - PMS1_000041 - - Germline - - - - DNA SEQ-NG-I 1 - - F Chania, Crete - Greek no - 1 Despoina Kalfakakou
?/? - c.966+37A>G r.(=) p.(=) Parent #2 g.190718845A>G - PMS1_000028 rs5743135 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
?/? - c.967-27C>T r.(=) p.(=) Parent #2 g.190718938C>T - PMS1_000046 - - Germline - - - - DNA SEQ-NG-I 1 LuCa - M Drama - Greek no - 1 Despoina Kalfakakou
?/? - c.967-25A>C r.(=) p.(=) Parent #2 g.190718940A>C - PMS1_000007 rs5743137 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rizolimilio, Aigio Valtetsiniko Greek no - 1 Despoina Kalfakakou
?/? - c.967-25A>C r.(=) p.(=) Parent #2 g.190718940A>C - PMS1_000007 rs5743137 - Germline - - - - DNA SEQ-NG-I 1 ColPol - M Trikala - Greek no - 1 Despoina Kalfakakou
?/? - c.967-25A>C r.(=) p.(=) Parent #2 g.190718940A>C - PMS1_000007 rs5743137 - Germline - - - - DNA SEQ-NG-I 1 - - F Corinthia Lesvos Greek no - 1 Despoina Kalfakakou
?/? - c.967-21T>C r.(=) p.(=) Parent #2 g.190718944T>C - PMS1_000034 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trikala Lesvos Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Athens Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 Polyposis, TRC - F Ioannina - Greek no - 2 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 CUP - F Kymi, Evia Limni, Evia Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Symi Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Petalidi, Mesinia - Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Trikala Agios Vissarion,Trikala Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 BKT - F Smyrna Agrinio Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 PrCa, RCC - M Ilia Constantinople Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Athens Florina Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia - Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Nafplio Greek no - 1 Despoina Kalfakakou
?/? - c.1001C>T r.(?) p.(Thr334Met) Parent #2 g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
-?/-? - c.1018T>C r.(=) p.(=) Parent #2 g.190719016T>C - PMS1_000042 rs762083170 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1039G>C r.(?) p.(Glu347Gln) Parent #2 g.190719037G>C - PMS1_000012 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Greeks of Australia - Greek no - 1 Despoina Kalfakakou
?/? - c.1062C>T r.(=) p.(=) Parent #2 g.190719060C>T - PMS1_000033 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 6 Despoina Kalfakakou
?/? - c.1200A>C r.(=) p.(=) Parent #2 g.190719198A>C - PMS1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Crete Greek no - 1 Despoina Kalfakakou
+/+ - c.1258del r.(?) p.(His420Ilefs*22) Parent #2 g.190719256del - PMS1_000013 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kazakhstan - Greek no - 1 Despoina Kalfakakou
?/? - c.1351A>C r.(?) p.(Thr451Pro) Parent #2 g.190719349A>C - PMS1_000024 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Almiros, Volos - Greek no - 3 Despoina Kalfakakou
?/? - c.1363A>G r.(?) p.(Lys455Glu) Parent #2 g.190719361A>G - PMS1_000014 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lampiotes, Rethymno - Greek no - 1 Despoina Kalfakakou
?/? - c.1488T>C r.(=) p.(=) Parent #2 g.190719486T>C - PMS1_000021 - - Germline - - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
?/? - c.1488T>C r.(=) p.(=) Parent #2 g.190719486T>C - PMS1_000021 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Elos, Laconia Elliniko, Arcadia Greek no - 2 Despoina Kalfakakou
?/? - c.1508T>A r.(?) p.(Ile503Lys) Parent #2 g.190719506T>A - PMS1_000049 - - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Volos Pontus Greek no - 1 Despoina Kalfakakou
?/? - c.1508T>A r.(?) p.(Ile503Lys) Parent #2 g.190719506T>A - PMS1_000049 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Goumenissa Kilkis Lagkadia, Pella Greek no - 1 Despoina Kalfakakou
?/? - c.1587_1589del r.(?) p.(Asn532del) Parent #2 g.190719585_190719587del - PMS1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Livadi, Elassona Nea Trapezounta, Pieria Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Poros - Greek no - 3 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Evia Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Spetses Laconia Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mani Aliartos, Boeotia Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Messolonghi Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kithnos &Andros Andros Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 3 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 Pheo - F Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 RCC - M Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 CRC, PNCA2 - M Psachna, Euboea - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BKT, CS, PPB - F Lamia Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Euboea Attika Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 RB1, RMSRCM - F Volos Livadia Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Xylokastro Greek no - 1 Despoina Kalfakakou
?/? - c.1623T>G r.(=) p.(=) Parent #2 g.190719621T>G - PMS1_000029 - - Germline - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
?/? - c.1643A>G r.(?) p.(Lys548Arg) Parent #2 g.190719641A>G - PMS1_000030 rs61736576 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia Athens Greek no - 1 Despoina Kalfakakou
?/? - c.1684G>C r.(?) p.(Ala562Pro) Parent #2 g.190719682G>C - PMS1_000057 rs147450758 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Arna, Laconia - Greek no - 1 Despoina Kalfakakou
+/+ - c.1888C>T r.(?) p.(Arg630*) Both (homozygous) g.190728500C>T - PMS1_000037 rs139932286 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Avlonari, Evia - Greek no - 1 Despoina Kalfakakou
?/? - c.1912G>A r.(?) p.(Ala638Thr) Parent #2 g.190728524G>A - PMS1_000058 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vagia, Thebes Ioannina Greek no - 1 Despoina Kalfakakou
?/? - c.1974C>T r.(=) p.(=) Parent #2 g.190728586C>T - PMS1_000059 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vagia, Thebes Ioannina Greek no - 1 Despoina Kalfakakou
?/? - c.1977A>T r.(=) p.(=) Parent #2 g.190728589A>T - PMS1_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Crete Rhodes Greek no - 1 Despoina Kalfakakou
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