Full data view for gene EZH2

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

112 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.87C>T r.(=) p.(=) Parent #2 g.148544304G>A - EZH2_000036 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia Orestiada Greek no - 1 Despoina Kalfakakou
./. - c.117+3A>G r.spl? p.? Parent #2 g.148544271T>C - EZH2_000050 - - - - DNA SEQ-NG-I 1 PrCa - M Katerini - Greek no - 1 Despoina Kalfakakou
./. - c.118-4del r.spl? p.? Parent #2 g.148543694del - EZH2_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
./. - c.118-4dup r.spl? p.? Parent #1 g.148543694dup - EZH2_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
./. - c.165C>G r.(?) p.(Ile55Met) Parent #2 g.148543643G>C - EZH2_000046 - - - - DNA SEQ-NG-I 1 RCC - M Athens Samos Greek no - 1 Despoina Kalfakakou
./. - c.247-10_247-9insT r.(=) p.(=) Parent #2 g.148529851_148529852insA - EZH2_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.247-10_247-9insT r.(=) p.(=) Parent #2 g.148529851_148529852insA - EZH2_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotiko, Preveza Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.247-10_247-9insT r.(=) p.(=) Parent #2 g.148529851_148529852insA - EZH2_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Karpenisi Drama Greek no - 1 Despoina Kalfakakou
./. - c.247-10_247-9insT r.(=) p.(=) Parent #2 g.148529851_148529852insA - EZH2_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Katerini Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.363+43T>C r.(=) p.(=) Parent #2 g.148529683A>G - EZH2_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Dominican Republic Armenia Greek no - 1 Despoina Kalfakakou
./. - c.363+48del r.(=) p.(=) Parent #2 g.148529678del - EZH2_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Palaiopyrgos, Larisa Mirini, Karditsa Greek no - 6 Despoina Kalfakakou
./. - c.364-17A>G r.(=) p.(=) Parent #2 g.148526957T>C - EZH2_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese Athens Greek no - 1 Despoina Kalfakakou
./. - c.364-17A>G r.(=) p.(=) Parent #2 g.148526957T>C - EZH2_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.364-16T>C r.(=) p.(=) Parent #2 g.148526956A>G - EZH2_000047 - - - - DNA SEQ-NG-I 1 DuoCa, LuCa, PNCA2, PrCa - M Athens - Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 BrCa - F Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 BrCa - F Laconia Corfu Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 BrCa - F Xanthi Kavala Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 CRC - M Asia Minor Kozani Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 - - F UK - Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 PrCa - M Thasos - Greek no - 1 Despoina Kalfakakou
./. - c.396T>C r.(=) p.(=) Parent #2 g.148526908A>G - EZH2_000011 rs61732845 - - - DNA SEQ-NG-I 1 BrCa - F Magnesia - Greek no - 1 Despoina Kalfakakou
./. - c.484+13C>T r.(=) p.(=) Parent #2 g.148526807G>A - EZH2_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Zacharo, Elis Kotylion, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.484+13C>T r.(=) p.(=) Parent #2 g.148526807G>A - EZH2_000010 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Colorado, USA - American no - 1 Despoina Kalfakakou
./. - c.484+13C>T r.(=) p.(=) Parent #2 g.148526807G>A - EZH2_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Kiato, Corinth Throfari, Corinth Greek no - 1 Despoina Kalfakakou
./. - c.484+13C>T r.(=) p.(=) Parent #2 g.148526807G>A - EZH2_000010 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.484+13C>T r.(=) p.(=) Parent #2 g.148526807G>A - EZH2_000010 - - - - DNA SEQ-NG-I 1 OVCA, TRC - F Didymoteicho - Greek no - 1 Despoina Kalfakakou
./. - c.484+13C>T r.(=) p.(=) Parent #2 g.148526807G>A - EZH2_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.625+22C>T r.(=) p.(=) Parent #2 g.148525810G>A - EZH2_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.625+22C>T r.(=) p.(=) Parent #2 g.148525810G>A - EZH2_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.626-23T>A r.(=) p.(=) Parent #2 g.148524381A>T - EZH2_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.657T>C r.(=) p.(=) Parent #2 g.148524327A>G - EZH2_000033 - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.717A>G r.(=) p.(=) Parent #2 g.148524267T>C - EZH2_000049 - - - - DNA SEQ-NG-I 1 CUP - F Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.717A>G r.(=) p.(=) Parent #2 g.148524267T>C - EZH2_000049 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.728+25A>G r.(=) p.(=) Parent #2 g.148524231T>C - EZH2_000021 - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Andros Athens Greek no - 1 Despoina Kalfakakou
./. - c.729-20T>G r.(=) p.(=) Parent #2 g.148523744A>C - EZH2_000009 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Corfu Izmir Greek no - 2 Despoina Kalfakakou
./. - c.760G>T r.(?) p.(Gly254Cys) Parent #2 g.148523693C>A - EZH2_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.891T>C r.(=) p.(=) Parent #2 g.148523562A>G - EZH2_000037 - - - - DNA SEQ-NG-I 1 SIPol - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.892+20G>A r.(=) p.(=) Parent #2 g.148523541C>T - EZH2_000056 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.893-36A>G r.(=) p.(=) Parent #2 g.148516815T>C - EZH2_000055 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.917A>C r.(?) p.(Tyr306Ser) Parent #2 g.148516755T>G - EZH2_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Perigiali, Corinth Kavala Greek no - 3 Despoina Kalfakakou
./. - c.948C>T r.(=) p.(=) Parent #2 g.148516724G>A - EZH2_000043 - - - - DNA SEQ-NG-I 1 Pheo - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Taxiarchis, Chalkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 2 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Lamia - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trikala Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Orestiada - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Pedino, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Salamina Cypriot no - 3 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Sycurium, Larisa Kastoria Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Papadates, Preveza - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Grammos, Kastoria Panorama, Grevena Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 - - M Athens - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 ColPol, CRC, GC - F Nafpaktos Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Korinos, Pieria - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.950A>G r.(?) p.(Asn317Ser) Parent #2 g.148516722T>C - EZH2_000007 - - - - DNA SEQ-NG-I 1 OVCA - F ─░stanbul Kozani Greek no - 1 Despoina Kalfakakou
./. - c.956C>T r.(?) p.(Pro319Leu) Parent #2 g.148516716G>A - EZH2_000060 - - - - DNA SEQ-NG-I 1 BrCa - F Skoytera, Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.984+27G>T r.(=) p.(=) Parent #2 g.148516661C>A - EZH2_000048 - - - - DNA SEQ-NG-I 1 MNGM - M Kefalonia Cyprus Greek no - 1 Despoina Kalfakakou
./. - c.985-47A>G r.(=) p.(=) Both (homozygous) g.148515256T>C - EZH2_000058 - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.985-47A>G r.(=) p.(=) Parent #2 g.148515256T>C - EZH2_000058 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Andros Greek no - 1 Despoina Kalfakakou
./. - c.985-5C>T r.spl? p.? Parent #2 g.148515214G>A - EZH2_000041 - - - - DNA SEQ-NG-I 1 BrCa, SCT - F Athens Crete Greek no - 1 Despoina Kalfakakou
./. - c.1119G>A r.(=) p.(=) Parent #2 g.148515075C>T - EZH2_000032 - - - - DNA SEQ-NG-I 1 BrCa - F Sycurium, Larisa Ampelakia, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.1119G>A r.(=) p.(=) Parent #2 g.148515075C>T - EZH2_000032 - - - - DNA SEQ-NG-I 1 - - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.1164G>A r.(=) p.(=) Parent #2 g.148515030C>T - EZH2_000061 - - - - DNA SEQ-NG-I 1 OVCA - F Athens Rethimno Greek no - 1 Despoina Kalfakakou
./. - c.1225+46G>A r.(=) p.(=) Parent #2 g.148514923C>T - EZH2_000053 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.1395+42A>G r.(=) p.(=) Parent #2 g.148514272T>C - EZH2_000034 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.1396-34G>A r.(=) p.(=) Parent #2 g.148513904C>T - EZH2_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.1443C>T r.(=) p.(=) Parent #2 g.148513823G>A - EZH2_000042 - - - - DNA SEQ-NG-I 1 ENC - F Kyriaki, Boeotia - Greek no - 1 Despoina Kalfakakou
./. - c.1490+32C>G r.(=) p.(=) Parent #2 g.148513744G>C - EZH2_000054 - - - - DNA SEQ-NG-I 1 OVCA - F Kostalexi,, Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.1491-37G>A r.(=) p.(=) Parent #2 g.148512675C>T - EZH2_000004 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
./. - c.1491-37G>A r.(=) p.(=) Parent #2 g.148512675C>T - EZH2_000004 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1491-37G>A r.(=) p.(=) Parent #2 g.148512675C>T - EZH2_000004 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1491-19T>G r.(=) p.(=) Parent #2 g.148512657A>C - EZH2_000017 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Thessaloniki Kavala Greek no - 1 Despoina Kalfakakou
./. - c.1532-18G>T r.(=) p.(=) Parent #2 g.148512149C>A - EZH2_000016 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Krioneri, Karditsa - Greek no - 4 Despoina Kalfakakou
./. - c.1532-10C>T r.(=) p.(=) Parent #2 g.148512141G>A - EZH2_000052 - - - - DNA SEQ-NG-I 1 PNCA2, PrCa - M Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.1580G>A r.(?) p.(Arg527Gln) Parent #2 g.148512083C>T - EZH2_000023 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Aegina Chania Greek no - 2 Despoina Kalfakakou
./. - c.1580G>A r.(?) p.(Arg527Gln) Parent #2 g.148512083C>T - EZH2_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Aegina Chania Greek no - 3 Despoina Kalfakakou
./. - c.1790A>C r.(?) p.(Lys597Thr) Parent #2 g.148511097T>G - EZH2_000044 - - - - DNA SEQ-NG-I 1 - - F Kos - Greek no - 1 Despoina Kalfakakou
./. - c.1818T>C r.(=) p.(=) Parent #2 g.148511069A>G - EZH2_000057 - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Nicolaos Kritsa Greek no - 1 Despoina Kalfakakou
./. - c.1836+1G>A r.spl? p.? Parent #2 g.148511050C>T - EZH2_000038 - - - - DNA SEQ-NG-I 1 Polyposis, TRC - M Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.1836+48G>C r.(=) p.(=) Parent #2 g.148511003C>G - EZH2_000045 - - - - DNA SEQ-NG-I 1 - - F UK - Greek no - 1 Despoina Kalfakakou
./. - c.1837-9A>C r.(=) p.(=) Parent #2 g.148508821T>G - EZH2_000059 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Karystos Greek no - 1 Despoina Kalfakakou
./. - c.1837-6C>T r.(=) p.(=) Parent #2 g.148508818G>A - EZH2_000026 rs78589034 - - - DNA SEQ-NG-I 1 BrCa - F Greece Scandinavia Greek no - 1 Despoina Kalfakakou
./. - c.1837-6C>T r.(=) p.(=) Parent #2 g.148508818G>A - EZH2_000026 rs78589034 - - - DNA SEQ-NG-I 1 BrCa - F Volos Rhodes Greek no - 1 Despoina Kalfakakou
./. - c.1837-6C>T r.(=) p.(=) Parent #2 g.148508818G>A - EZH2_000026 rs78589034 - - - DNA SEQ-NG-I 1 PNCA2 - M Larisa Macedonia Greek no - 1 Despoina Kalfakakou
./. - c.1890T>C r.(=) p.(=) Parent #2 g.148508759A>G - EZH2_000025 - - - - DNA SEQ-NG-I 1 ColPol - F Kefalonia Amaliada Greek no - 1 Despoina Kalfakakou
./. - c.1932+48T>G r.(=) p.(=) Parent #2 g.148508669A>C - EZH2_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Aiani, Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.1932+48T>G r.(=) p.(=) Parent #2 g.148508669A>C - EZH2_000015 - - - - DNA SEQ-NG-I 1 OVCA - F Italy Rhodes Greek no - 1 Despoina Kalfakakou
./. - c.1933-8_1933-5del r.spl? p.? Parent #2 g.148507511_148507514del - EZH2_000051 - - - - DNA SEQ-NG-I 1 PrCa, RCC - M Ilia Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.1968A>G r.(=) p.(=) Parent #2 g.148507471T>C - EZH2_000024 - - - - DNA SEQ-NG-I 1 CRC - M Methoni, Messenia Desillas, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.1968A>G r.(=) p.(=) Parent #2 g.148507471T>C - EZH2_000024 - - - - DNA SEQ-NG-I 1 CRC - M Athanasios Diakos, Phocis - Greek no - 2 Despoina Kalfakakou
./. - c.1968A>G r.(=) p.(=) Parent #2 g.148507471T>C - EZH2_000024 - - - - DNA SEQ-NG-I 1 PNCA2 - F Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.1968A>G r.(=) p.(=) Parent #2 g.148507471T>C - EZH2_000024 - - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria - Greek no - 1 Despoina Kalfakakou
./. - c.2013T>C r.(=) p.(=) Parent #2 g.148507426A>G - EZH2_000039 - - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.2014+4T>C r.spl? p.? Parent #2 g.148507421A>G - EZH2_000014 - - - - DNA SEQ-NG-I 1 OVCA - F Amaliada - Greek no - 1 Despoina Kalfakakou
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