Full data view for gene PMS2

Information The variants shown are described using the NM_000535.5 transcript reference sequence.

421 entries on 5 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5     Next › Last »

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.-50G>A r.(=) p.(=) Parent #2 g.6048700C>T - PMS2_000026 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Zagora, Pelion Volos Greek no - 1 Despoina Kalfakakou
-/- - c.-33C>T r.(=) p.(=) Parent #2 g.6048683G>A - PMS2_000067 rs562800874 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra Galatas, Messolonghi Greek no - 1 Despoina Kalfakakou
?/? - c.-4A>G r.(=) p.(=) Parent #2 g.6048654T>C - PMS2_000041 rs544503598 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mandra, Attica Region Perachora, Loutraki Greek no - 1 Despoina Kalfakakou
?/? - c.-2C>T r.(=) p.(=) Parent #2 g.6048652G>A - PMS2_000094 rs876658209 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - Greek no - 1 Despoina Kalfakakou
+/+ 15 c.(?) r.(?) p.(?) Parent #2 g.(?_6012870)_(6013174_6017218)del - PMS2_000111 - Deletion extending 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - PMS2 exon 15 deletion - - DNA MLPA 1 CRC - M Eretria - Greek no - 1 Despoina Kalfakakou
-?/-? - c.23+10G>C r.(=) p.(=) Parent #2 g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.23+10G>C r.(=) p.(=) Parent #2 g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - DNA SEQ-NG-I 1 - - F Etolia-Akarnania Lasithi, Crete Greek no - 1 Despoina Kalfakakou
-?/-? - c.23+10G>C r.(=) p.(=) Parent #2 g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - DNA SEQ-NG-I 1 Epend, OC - M Mitilini Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.23+10G>C r.(=) p.(=) Parent #2 g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.23+31C>T r.(=) p.(=) Parent #2 g.6048597G>A - PMS2_000054 rs371201653 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.23+36C>T r.(=) p.(=) Parent #2 g.6048592G>A - PMS2_000039 - - Germline - - - - DNA SEQ-NG-I 1 CRC - M Manesi, Messinia - Greek no - 5 Despoina Kalfakakou
?/? - c.24-28A>C r.(=) p.(=) Parent #2 g.6045690T>G - PMS2_000105 rs2881029 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavala Asia Minor Thera Greek no - 1 Despoina Kalfakakou
?/? - c.53T>C r.(?) p.(Ile18Thr) Parent #2 g.6045633A>G - PMS2_000019 rs201343342 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Evia Lesvos Greek no - 1 Despoina Kalfakakou
?/? - c.53T>C r.(?) p.(Ile18Thr) Parent #2 g.6045633A>G - PMS2_000019 rs201343342 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.86G>C r.(?) p.(Gly29Ala) Parent #2 g.6045600C>G - PMS2_000017 rs146176004 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.86G>C r.(?) p.(Gly29Ala) Parent #2 g.6045600C>G - PMS2_000017 rs146176004 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Larisa Athens Greek no - 1 Despoina Kalfakakou
?/? - c.86G>C r.(?) p.(Gly29Ala) Parent #2 g.6045600C>G - PMS2_000017 rs146176004 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
?/? - c.89A>C r.(?) p.(Gln30Pro) Parent #2 g.6045597T>G - PMS2_000053 rs1802682 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Methoni, Messenia Desillas, Messenia Greek no - 1 Despoina Kalfakakou
?/? - c.89A>C r.(?) p.(Gln30Pro) Parent #2 g.6045597T>G - PMS2_000053 rs1802682 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
?/? - c.113C>T r.(?) p.(Ala38Val) Parent #2 g.6045573G>A - PMS2_000059 rs148270248 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno Asia Minor Greek no - 3 Despoina Kalfakakou
?/? - c.117A>G r.(=) p.(=) Parent #2 g.6045569T>C - PMS2_000058 rs34839707 - Germline - - - - DNA SEQ-NG-I 1 CRC, ENC, SkCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
?/? - c.146C>G r.(?) p.(Ala49Gly) Parent #2 g.6045540G>C - PMS2_000096 rs786203255 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
+?/+? - c.163+1G>T r.spl? p.? Parent #2 g.6045522C>A - PMS2_000095 rs1064795705 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Skepasto, Thessaloniki Therma, Serres Greek no - 1 Despoina Kalfakakou
?/? - c.163+35A>C r.(=) p.(=) Parent #2 g.6045488T>G - PMS2_000057 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
?/? - c.163+35A>C r.(=) p.(=) Parent #2 g.6045488T>G - PMS2_000057 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Arta Corfu Greek no - 1 Despoina Kalfakakou
?/? - c.164-22G>A r.(=) p.(=) Parent #2 g.6043711C>T - PMS2_000075 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.164-22G>A r.(=) p.(=) Parent #2 g.6043711C>T - PMS2_000075 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
?/? - c.178G>A r.(?) p.(Asp60Asn) Parent #2 g.6043675C>T - PMS2_000093 rs587782176 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Germany - Greek no - 1 Despoina Kalfakakou
?/? - c.195T>C r.(=) p.(=) Parent #2 g.6043658A>G - PMS2_000040 rs780080040 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
?/? - c.195T>C r.(=) p.(=) Parent #2 g.6043658A>G - PMS2_000040 rs780080040 - Germline - - - - DNA SEQ-NG-I 1 BrCa, NF1 - F Patra - Greek no - 1 Despoina Kalfakakou
?/? - c.195T>C r.(=) p.(=) Parent #2 g.6043658A>G - PMS2_000040 rs780080040 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) Parent #2 g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Karditsa Ioannina Greek no - 1 Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) Parent #2 g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) Parent #2 g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Larisa East Thrace Greek no - 1 Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) Parent #2 g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Volos Athens Greek no - 2 Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) Parent #2 g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - DNA SEQ-NG-I 1 CRC, Polyposis - F Filiates, Thesprotia Thesprotia Greek no - 1 Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) Parent #2 g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) Parent #2 g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neraida, Karditsa Zigovisti, Arcadia Greek no - 1 Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) Parent #2 g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Psari, Messenia Tripoli Greek no - 1 Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) Parent #2 g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.241G>A r.(?) p.(Glu81Lys) Parent #2 g.6043612C>T - PMS2_000056 rs730881919 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pigi, Cyprus Neta, Cyprus Cypriot no - 4 Despoina Kalfakakou
?/? - c.244G>A r.(?) p.(Gly82Ser) Parent #2 g.6043609C>T - PMS2_000038 rs754191682 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Trebisonda Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
?/? - c.244G>A r.(?) p.(Gly82Ser) Parent #2 g.6043609C>T - PMS2_000038 rs754191682 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kavala - Greek no - 1 Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) Parent #2 g.6043552G>A - PMS2_000037 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene - Greek no - 1 Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) Parent #2 g.6043552G>A - PMS2_000037 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 1 Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) Parent #2 g.6043552G>A - PMS2_000037 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) Parent #2 g.6043552G>A - PMS2_000037 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Skliva, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) Parent #2 g.6043552G>A - PMS2_000037 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) Parent #2 g.6043552G>A - PMS2_000037 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) Parent #2 g.6043552G>A - PMS2_000037 - - Germline - - - - DNA SEQ-NG-I 1 AML, BrCa, CRC, PNCA2, TRC - F Asia Minor Rethimno, Crete Greek no - 1 Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) Parent #2 g.6043552G>A - PMS2_000037 - - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Athens Florina Greek no - 1 Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) Parent #2 g.6043552G>A - PMS2_000037 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavyli, Evros - Greek no - 1 Despoina Kalfakakou
?/? - c.251-31A>T r.(=) p.(=) Parent #2 g.6043454T>A - PMS2_000068 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F  Ioannina Athens Greek no - 1 Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) Parent #2 g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene - Greek no - 1 Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) Parent #2 g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 1 Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) Parent #2 g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Platanos, Kissamos, Chania - Greek no - 4 Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) Parent #2 g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) Parent #2 g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.255G>A r.(=) p.(=) Parent #2 g.6043419C>T - PMS2_000085 rs200491279 - Germline - - - - DNA SEQ-NG-I 1 OBT, PNCA2 - M Edessa Pentapoli, Serres Greek no - 1 Despoina Kalfakakou
?/? - c.287C>T r.(?) p.(Ala96Val) Parent #2 g.6043387G>A - PMS2_000052 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chrysa, Aridaia, Pella - Greek no - 4 Despoina Kalfakakou
-/- - c.288C>T r.(=) p.(=) Parent #2 g.6043386G>A - PMS2_000110 rs12532895 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) Parent #2 g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Methoni, Messenia Desillas, Messenia Greek no - 1 Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) Parent #2 g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - DNA SEQ-NG-I 1 CRC, ENC, SkCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) Parent #2 g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) Parent #2 g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Elos, Laconia Elliniko, Arcadia Greek no - 2 Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) Parent #2 g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - DNA SEQ-NG-I 1 GC - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) Parent #2 g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - DNA SEQ-NG-I 1 - - F Stavros, Lamia Lamia Greek no - 1 Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) Parent #2 g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Athens Florina Greek no - 1 Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) Parent #2 g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Thesprotia Greek no - 1 Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) Parent #2 g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 3 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC, TRC - F Elis Constantinople Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Platanos, Kissamos, Chania - Greek no - 4 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Germany Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kastoria Athens Greek no - 3 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 CRC, ENC, SkCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Skliva, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Nafpaktos Serres Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 AML, BrCa, CRC, PNCA2, TRC - F Asia Minor Rethimno, Crete Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pieria - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki Xanthi Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Andros Limni, Euboea Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavala Asia Minor Thera Greek no - 1 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 3 Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) Parent #2 g.6042310A>G - PMS2_000011 - - Germline - - - - DNA SEQ-NG-I 1 GC - M - - - - - 1 Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) Parent #2 g.6042307C>T - PMS2_000034 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Albania - Albanian no - 1 Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) Parent #2 g.6042307C>T - PMS2_000034 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aiani, Kozani - Greek no - 1 Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) Parent #2 g.6042307C>T - PMS2_000034 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene - Greek no - 1 Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) Parent #2 g.6042307C>T - PMS2_000034 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Greece Romania Romanian no - 1 Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) Parent #2 g.6042307C>T - PMS2_000034 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Thessaloniki Kavala Greek no - 1 Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) Parent #2 g.6042307C>T - PMS2_000034 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Livadeia Honduras Greek no - 1 Despoina Kalfakakou
Legend   « First ‹ Prev     1 2 3 4 5     Next › Last »