Full data view for gene PTCH1

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

338 entries on 4 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.-346del r.(=) p.(=) Parent #2 g.98279099del - PTCH1_000047 - - - - DNA SEQ-NG-I 1 CRC - F Lefka, Phthiotis Achladea, Phthiotis Greek no - 1 Despoina Kalfakakou
./. - c.-255C>T r.(=) p.(=) Parent #2 g.98279008G>A - PTCH1_000125 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus ─░stanbul Greek no - 1 Despoina Kalfakakou
./. - c.-198_-196del r.(=) p.(=) Parent #2 g.98278949_98278951del - PTCH1_000123 - - - - DNA SEQ-NG-I 1 OVCA - F Ios - Greek no - 1 Despoina Kalfakakou
./. - c.-193G>C r.(=) p.(=) Parent #2 g.98278946C>G - PTCH1_000077 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.-193G>C r.(=) p.(=) Parent #2 g.98278946C>G - PTCH1_000077 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.-143G>C r.(=) p.(=) Parent #2 g.98278896C>G - PTCH1_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.-143G>C r.(=) p.(=) Parent #2 g.98278896C>G - PTCH1_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.-143G>C r.(=) p.(=) Parent #2 g.98278896C>G - PTCH1_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.36G>T r.(?) p.(Trp12Cys) Parent #2 g.98268849C>A - PTCH1_000032 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.36G>T r.(?) p.(Trp12Cys) Parent #2 g.98268849C>A - PTCH1_000032 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.196+32del r.(=) p.(=) Parent #2 g.98268657del - PTCH1_000031 - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
./. - c.197-12C>T r.(=) p.(=) Parent #2 g.98248168G>A - PTCH1_000070 - - - - DNA SEQ-NG-I 1 BrCa - F Chania Arta Greek no - 1 Despoina Kalfakakou
./. - c.201A>G r.(=) p.(=) Parent #2 g.98248152T>C - PTCH1_000038 - - - - DNA SEQ-NG-I 1 BrCa, Polyposis - F Agios Petros, Kynouria Cairo, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.270A>G r.(=) p.(=) Parent #2 g.98248083T>C - PTCH1_000124 - - - - DNA SEQ-NG-I 1 BrCa - F Zaros, Heraklion Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.328C>T r.(=) p.(=) Parent #2 g.98248025G>A - PTCH1_000017 rs2066834 - - - DNA SEQ-NG-I 1 PNCA2 - F Chania Mani Greek no - 3 Despoina Kalfakakou
./. - c.386+14C>T r.(=) p.(=) Parent #2 g.98247953G>A - PTCH1_000105 - - - - DNA SEQ-NG-I 1 BrCa - F Grevena Mytilene Greek no - 1 Despoina Kalfakakou
./. - c.386+14C>T r.(=) p.(=) Parent #2 g.98247953G>A - PTCH1_000105 - - - - DNA SEQ-NG-I 1 OVCA - F Kyriaki, Boeotia - Greek no - 1 Despoina Kalfakakou
./. - c.386+21C>T r.(=) p.(=) Parent #2 g.98247946G>A - PTCH1_000094 - - - - DNA SEQ-NG-I 1 Schw - M Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.386+46G>A r.(=) p.(=) Parent #2 g.98247921C>T - PTCH1_000059 - - - - DNA SEQ-NG-I 1 BrCa, CHL, ColPol - F Constantinople Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.387-47T>G r.(=) p.(=) Parent #2 g.98244532A>C - PTCH1_000030 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.387-45C>G r.(=) p.(=) Parent #2 g.98244530G>C - PTCH1_000092 - - - - DNA SEQ-NG-I 1 AoVCa - M Chalkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.387-38del r.(=) p.(=) Parent #2 g.98244523del - PTCH1_000085 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.387-38del r.(=) p.(=) Parent #2 g.98244523del - PTCH1_000085 - - - - DNA SEQ-NG-I 1 CAL, HypPT, NDL, Pheo - M Nisyros Constantinople Greek no - 2 Despoina Kalfakakou
./. - c.448A>G r.(?) p.(Met150Val) Parent #2 g.98244424T>C - PTCH1_000063 - - - - DNA SEQ-NG-I 1 OVCA - F Neochori, Elis Lithochori, Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.549-21G>A r.(=) p.(=) Parent #2 g.98242891C>T - PTCH1_000073 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Kyparissia Greek no - 1 Despoina Kalfakakou
./. - c.556C>T r.(?) p.(Pro186Ser) Parent #2 g.98242863G>A - PTCH1_000122 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.579C>T r.(=) p.(=) Parent #2 g.98242840G>A - PTCH1_000081 - - - - DNA SEQ-NG-I 1 OVCA - F Kamares, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.603G>A r.(=) p.(=) Parent #2 g.98242816C>T - PTCH1_000091 - - - - DNA SEQ-NG-I 1 - - F Armenia Komotini Armenian-Greek no - 1 Despoina Kalfakakou
./. - c.748-8T>C r.(=) p.(=) Parent #2 g.98242380A>G - PTCH1_000069 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Kavala Greek no - 1 Despoina Kalfakakou
./. - c.841G>C r.(?) p.(Val281Leu) Parent #2 g.98242279C>G - PTCH1_000110 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.851G>A r.(?) p.(Ser284Asn) Parent #2 g.98242269C>T - PTCH1_000046 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Thessaloniki Chios Greek no - 1 Despoina Kalfakakou
./. - c.869+36G>A r.(=) p.(=) Parent #2 g.98242215C>T - PTCH1_000095 - - - - DNA SEQ-NG-I 1 PrCa - M Patras - Greek no - 1 Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) Parent #2 g.98241259C>T - PTCH1_000062 rs2066840 - - - DNA SEQ-NG-I 1 OVCA - F Makrychori, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) Parent #2 g.98241259C>T - PTCH1_000062 rs2066840 - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) Parent #2 g.98241259C>T - PTCH1_000062 rs2066840 - - - DNA SEQ-NG-I 1 BrCa - F Ithomi, Karditsa Emmanouil Pappas, Serres Greek no - 1 Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) Parent #2 g.98241259C>T - PTCH1_000062 rs2066840 - - - DNA SEQ-NG-I 1 OVCA - F Agia Marina, Imathia - Greek no - 1 Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) Parent #2 g.98241259C>T - PTCH1_000062 rs2066840 - - - DNA SEQ-NG-I 1 CAL - F - - Greek no - 2 Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) Parent #2 g.98241259C>T - PTCH1_000062 rs2066840 - - - DNA SEQ-NG-I 1 CAL, NF, SRCM - M - - Greek no - 3 Despoina Kalfakakou
./. - c.1017+45A>G r.(=) p.(=) Parent #2 g.98241237T>C - PTCH1_000072 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 2 Despoina Kalfakakou
./. - c.1017+45A>G r.(=) p.(=) Parent #2 g.98241237T>C - PTCH1_000072 - - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa - Greek no - 1 Despoina Kalfakakou
./. - c.1018-21C>T r.(=) p.(=) Parent #2 g.98240489G>A - PTCH1_000029 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1018-21C>T r.(=) p.(=) Parent #2 g.98240489G>A - PTCH1_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Cyclades Greek no - 1 Despoina Kalfakakou
./. - c.1018-21C>T r.(=) p.(=) Parent #2 g.98240489G>A - PTCH1_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Drama Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1018-21C>T r.(=) p.(=) Parent #2 g.98240489G>A - PTCH1_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Armenia Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.1018-6C>A r.(=) p.(=) Parent #2 g.98240474G>T - PTCH1_000098 - - - - DNA SEQ-NG-I 1 OVCA - F Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.1108G>A r.(?) p.(Asp370Asn) Parent #2 g.98240378C>T - PTCH1_000089 - - - - DNA SEQ-NG-I 1 CAL, LiCa, NDL, TRC - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1108G>A r.(?) p.(Asp370Asn) Parent #2 g.98240378C>T - PTCH1_000089 - - - - DNA SEQ-NG-I 1 BrCa - F Lagkadas, Thessaloniki Athens Greek no - 1 Despoina Kalfakakou
./. - c.1108G>A r.(?) p.(Asp370Asn) Parent #2 g.98240378C>T - PTCH1_000089 - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.1149+6G>A r.(=) p.(=) Parent #2 g.98240331C>T - PTCH1_000107 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.1149+33A>T r.(=) p.(=) Parent #2 g.98240304T>A - PTCH1_000034 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1150-47T>C r.(=) p.(=) Parent #2 g.98240031A>G - PTCH1_000097 - - - - DNA SEQ-NG-I 1 OVCA - F Moldova - Greek no - 1 Despoina Kalfakakou
./. - c.1153G>A r.(?) p.(Ala385Thr) Parent #2 g.98239981C>T - PTCH1_000028 - - - - DNA SEQ-NG-I 1 BrCa - M Milies, Elis Drepano, Achaia Greek no - 1 Despoina Kalfakakou
./. - c.1306-31C>G r.(=) p.(=) Parent #2 g.98239170G>C - PTCH1_000068 - - - - DNA SEQ-NG-I 1 BrCa - F Gergeri, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) Parent #2 g.98239024_98239026del - PTCH1_000027 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Armenia Greece Armenian no - 1 Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) Parent #2 g.98239024_98239026del - PTCH1_000027 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Livadeia Honduras Greek no - 1 Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) Parent #2 g.98239024_98239026del - PTCH1_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kozani Greek no - 1 Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) Parent #2 g.98239024_98239026del - PTCH1_000027 - - - - DNA SEQ-NG-I 1 Pheo - M Astros, Kynouria Amfilochia Greek no - 1 Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) Parent #2 g.98239024_98239026del - PTCH1_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Naousa Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) Parent #2 g.98239024_98239026del - PTCH1_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.1404+18G>A r.(=) p.(=) Parent #2 g.98239023C>T - PTCH1_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Kali Vrisi, Drama - Greek no - 1 Despoina Kalfakakou
./. - c.1530+16T>A r.(=) p.(=) Parent #2 g.98238300A>T - PTCH1_000113 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Theriso, Chania Greek no - 1 Despoina Kalfakakou
./. - c.1530+38C>T r.(=) p.(=) Parent #2 g.98238278G>A - PTCH1_000090 - - - - DNA SEQ-NG-I 1 ENC - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Kavala Serres Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Andros Athens Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Patra Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 CRC - F Pogoni, Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 ColPol - F Messenia - Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Lappa, Achaia Neapoli, Elis Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Phthiotis Kalamata Greek no - 2 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 CMM3 - M Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 - - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 MNGM, Schw - M Volod Kastoria Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Greeks of Russia - Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 OVCA - F Katerini Larisa Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) Parent #2 g.98232081G>A - PTCH1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Rhodes Pelion Greek no - 1 Despoina Kalfakakou
./. - c.1657G>A r.(?) p.(Val553Ile) Parent #2 g.98231428C>T - PTCH1_000025 - - - - DNA SEQ-NG-I 1 BrCa - M Rodolivos, Serres - Greek no - 1 Despoina Kalfakakou
./. - c.1697A>G r.(?) p.(Asp566Gly) Parent #2 g.98231388T>C - PTCH1_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Thermo, Aetolia-Acarnania Katafigio, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.1712C>T r.(?) p.(Thr571Ile) Parent #2 g.98231373G>A - PTCH1_000055 - - - - DNA SEQ-NG-I 1 Healthy/Control - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1712C>T r.(?) p.(Thr571Ile) Parent #2 g.98231373G>A - PTCH1_000055 - - - - DNA SEQ-NG-I 1 BrCa - F Mandra, Attica Region - Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 OVCA - F Dafni, Kalavryta Athens Greek no - 2 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 CRC - M Asia Minor Kozani Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 BrCa - F Nafpaktos Serres Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 BrCa - F Argos Orestiko Kalo Nero, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 BrCa - F Romania - Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 CUP, GaPol - F Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 OVCA - F Vytina, Arcadia Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Drama Paranesti, Drama Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus/ Kilkis - Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina Rethimno Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Nafplio Greek no - 1 Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) Parent #2 g.98231279G>A - PTCH1_000045 - - - - DNA SEQ-NG-I 1 OVCA - F Kilkis - Greek no - 1 Despoina Kalfakakou
./. - c.1876G>A r.(?) p.(Val626Met) Parent #2 g.98231209C>T - PTCH1_000042 - - - - DNA SEQ-NG-I 1 BrCa, Polyposis - F Agios Petros, Kynouria Cairo, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.1965C>T r.(=) p.(=) Parent #2 g.98231120G>A - PTCH1_000088 - - - - DNA SEQ-NG-I 1 - - M - - - no - 1 Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) Parent #2 g.98231110G>A - PTCH1_000015 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) Parent #2 g.98231110G>A - PTCH1_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Kato Achaia Thessaly Greek no - 1 Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) Parent #2 g.98231110G>A - PTCH1_000015 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) Parent #2 g.98231110G>A - PTCH1_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) Parent #2 g.98231110G>A - PTCH1_000015 - - - - DNA SEQ-NG-I 1 Healthy/Control - M Kymi, Euboea - Greek no - 3 Despoina Kalfakakou
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