Unique variants in gene CEP57

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

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. 1 - c.-33C>A r.(=) p.(=) g.95523830C>A - CEP57_000025 - - - - - - - Despoina Kalfakakou
./. 1 - c.44C>T r.(?) p.(Ser15Leu) g.95523906C>T - CEP57_000011 - - - - - - - Despoina Kalfakakou
./. 1 - c.46-43T>C r.(=) p.(=) g.95532353T>C - CEP57_000012 - - - - - - - Despoina Kalfakakou
./. 16 - c.46-21A>G r.(=) p.(=) g.95532375A>G - CEP57_000005 - - - - - - - Despoina Kalfakakou
./. 4 - c.46-8T>A r.(=) p.(=) g.95532388T>A - CEP57_000013 - - - - - - - Despoina Kalfakakou
./. 1 - c.49A>G r.(?) p.(Ser17Gly) g.95532399A>G - CEP57_000032 - - - - - - - Despoina Kalfakakou
./. 1 - c.88C>T r.(?) p.(Arg30Trp) g.95532438C>T - CEP57_000016 - - - - - - - Despoina Kalfakakou
./. 1 - c.91C>A r.(?) p.(His31Asn) g.95532441C>A - CEP57_000010 - - - - - - - Despoina Kalfakakou
./. 1 - c.95C>T r.(?) p.(Ser32Phe) g.95532445C>T - CEP57_000035 - - - - - - - Despoina Kalfakakou
./. 1 - c.136C>T r.(?) p.(Leu46Phe) g.95532486C>T - CEP57_000017 - - - - - - - Despoina Kalfakakou
./. 1 - c.260G>A r.(?) p.(Arg87Lys) g.95546153G>A - CEP57_000042 - - - - - - - Despoina Kalfakakou
./. 24 - c.333G>C r.(?) p.(Gln111His) g.95546226G>C - CEP57_000002 - - - - - - - Despoina Kalfakakou
./. 1 - c.383-15A>G r.(=) p.(=) g.95546617A>G - CEP57_000044 - - - - - - - Despoina Kalfakakou
./. 2 - c.457A>G r.(?) p.(Met153Val) g.95546706A>G - CEP57_000023 - - - - - - - Despoina Kalfakakou
./. 1 - c.471C>A r.(=) p.(=) g.95546720C>A - CEP57_000036 - - - - - - - Despoina Kalfakakou
./. 1 - c.476T>G r.(?) p.(Met159Arg) g.95546725T>G - CEP57_000037 - - - - - - - Despoina Kalfakakou
./. 3 - c.504+39T>C r.(=) p.(=) g.95546792T>C - CEP57_000022 rs78294334 - - - - - - Despoina Kalfakakou
./. 3 - c.510C>G r.(=) p.(=) g.95550956C>G - CEP57_000008 - - - - - - - Despoina Kalfakakou
./. 6 - c.621+43G>T r.(=) p.(=) g.95551110G>T - CEP57_000003 - - - - - - - Despoina Kalfakakou
./. 1 - c.655_657del r.(?) p.(Glu221del) g.95552024_95552026del - CEP57_000038 - - - - - - - Despoina Kalfakakou
./. 3 - c.699+44G>A r.(=) p.(=) g.95552112G>A - CEP57_000018 - - - - - - - Despoina Kalfakakou
./. 1 - c.700-50T>A r.(=) p.(=) g.95554985T>A - CEP57_000024 - - - - - - - Despoina Kalfakakou
./. 1 - c.700-19A>C r.(=) p.(=) g.95555016A>C - CEP57_000019 - - - - - - - Despoina Kalfakakou
./. 1 - c.701T>G r.(?) p.(Leu234Trp) g.95555036T>G - CEP57_000004 - - - - - - - Despoina Kalfakakou
./. 2 - c.751C>T r.(?) p.(Pro251Ser) g.95555086C>T - CEP57_000014 - - - - - - - Despoina Kalfakakou
./. 1 - c.807+3G>A r.spl? p.? g.95555145G>A - CEP57_000031 - - - - - - - Despoina Kalfakakou
./. 2 - c.807+16C>A r.(=) p.(=) g.95555158C>A - CEP57_000030 - - - - - - - Despoina Kalfakakou
./. 1 - c.808-49_808-48insA r.(=) p.(=) g.95555614_95555615insA - CEP57_000043 - - - - - - - Despoina Kalfakakou
./. 1 - c.808-45A>G r.(=) p.(=) g.95555618A>G - CEP57_000028 - - - - - - - Despoina Kalfakakou
./. 1 - c.885+51T>C r.(=) p.(=) g.95555791T>C - CEP57_000034 - - - - - - - Despoina Kalfakakou
./. 1 - c.886-51G>T r.(=) p.(=) g.95560899G>T - CEP57_000015 - - - - - - - Despoina Kalfakakou
./. 1 - c.886-50T>C r.(=) p.(=) g.95560900T>C - CEP57_000020 - - - - - - - Despoina Kalfakakou
./. 1 - c.886-49_886-48insT r.(=) p.(=) g.95560901_95560902insT - CEP57_000039 - - - - - - - Despoina Kalfakakou
./. 2 - c.1008A>G r.(=) p.(=) g.95561072A>G - CEP57_000040 - - - - - - - Despoina Kalfakakou
./. 2 - c.1080G>T r.(?) p.(Leu360Phe) g.95561144G>T - CEP57_000009 - - - - - - - Despoina Kalfakakou
./. 18 - c.1128-40C>T r.(=) p.(=) g.95562311C>T - CEP57_000001 - - - - - - - Despoina Kalfakakou
./. 3 - c.1171G>A r.(?) p.(Val391Ile) g.95562394G>A - CEP57_000021 - - - - - - - Despoina Kalfakakou
./. 1 - c.1227A>G r.(=) p.(=) g.95562450A>G - CEP57_000033 - - - - - - - Despoina Kalfakakou
./. 1 - c.1272+41A>G r.(=) p.(=) g.95562536A>G - CEP57_000027 rs77784563 - - - - - - Despoina Kalfakakou
./. 2 - c.1306G>C r.(?) p.(Glu436Gln) g.95564223G>C - CEP57_000006 - - - - - - - Despoina Kalfakakou
./. 2 - c.1377C>T r.(=) p.(=) g.95564294C>T - CEP57_000029 - - - - - - - Despoina Kalfakakou
./. 1 - c.1449C>T r.(=) p.(=) g.95564366C>T - CEP57_000007 - - - - - - - Despoina Kalfakakou
./. 1 - c.*14C>A r.(=) p.(=) g.95564434C>A - CEP57_000026 - - - - - - - Despoina Kalfakakou
./. 1 - c.*41C>T r.(=) p.(=) g.95564461C>T - CEP57_000041 - - - - - - - Despoina Kalfakakou
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