Full data view for gene PTCH1

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

362 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     

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.-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.253G>T r.(?) p.(Ala85Ser) Parent #2 g.98248100C>A - PTCH1_000131 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 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.328C>T r.(=) p.(=) Parent #2 g.98248025G>A - PTCH1_000017 rs2066834 - - - - - - DNA SEQ-NG - NDL, RenLes, TSC2 - M - - Greek no - 1 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.387-45C>G r.(=) p.(=) Parent #2 g.98244530G>C - PTCH1_000092 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Kavyli, Evros - Greek no - 1 Despoina Kalfakakou
./. - c.387-45C>G r.(=) p.(=) Parent #2 g.98244530G>C - PTCH1_000092 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Moschofito,Trikala - 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.1017+45A>G r.(=) p.(=) Parent #2 g.98241237T>C - PTCH1_000072 - - - - - - - DNA SEQ-NG-I 1 OVCA - 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.1018-21C>T r.(=) p.(=) Parent #2 g.98240489G>A - PTCH1_000029 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - - 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+15_1404+17del r.(=) p.(=) Parent #2 g.98239024_98239026del - PTCH1_000027 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Yalta, Russia Giresun 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.1531-42G>A r.(=) p.(=) Parent #2 g.98232255C>T - PTCH1_000132 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Alexandria, Egypt Cairo 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
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