Unique variants in gene CDH1

Information The variants shown are described using the NM_004360.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 3 - c.-40G>A r.(=) p.(=) g.68771279G>A - CDH1_000028 - - - - Despoina Kalfakakou
./. 2 - c.-26C>T r.(=) p.(=) g.68771293C>T - CDH1_000061 - - - - Despoina Kalfakakou
./. 1 - c.8C>G r.(?) p.(Pro3Arg) g.68771326C>G - CDH1_000035 - - - - Despoina Kalfakakou
./. 6 - c.88C>A r.(?) p.(Pro30Thr) g.68772239C>A - CDH1_000027 - - - - Despoina Kalfakakou
./. 1 - c.89C>G r.(?) p.(Pro30Arg) g.68772240C>G - CDH1_000026 - - - - Despoina Kalfakakou
./. 1 - c.112A>G r.(?) p.(Thr38Ala) g.68772263A>G - CDH1_000004 - - - - Despoina Kalfakakou
./. 1 - c.160A>G r.(?) p.(Arg54Gly) g.68772311A>G - CDH1_000030 - - - - Despoina Kalfakakou
./. 1 - c.195G>A r.(=) p.(=) g.68835604G>A - CDH1_000039 - - - - Despoina Kalfakakou
./. 1 - c.269G>A r.(?) p.(Arg90Gln) g.68835678G>A - CDH1_000063 - - - - Despoina Kalfakakou
./. 2 - c.324A>G r.(=) p.(=) g.68835733A>G - CDH1_000041 - - - - Despoina Kalfakakou
./. 1 - c.344C>T r.(?) p.(Thr115Met) g.68835753C>T - CDH1_000005 - - - - Despoina Kalfakakou
./. 44 - c.345G>A r.(=) p.(=) g.68835754G>A - CDH1_000006 rs1801023 - - - Despoina Kalfakakou
./. 1 - c.375C>T r.(=) p.(=) g.68835784C>T - CDH1_000051 - - - - Despoina Kalfakakou
./. 18 - c.387+27C>T r.(=) p.(=) g.68835823C>T - CDH1_000007 rs33932809 - - - Despoina Kalfakakou
./. 1 - c.387+28G>A r.(=) p.(=) g.68835824G>A - CDH1_000017 - - - - Despoina Kalfakakou
./. 1 - c.387+35T>G r.(=) p.(=) g.68835831T>G - CDH1_000059 - - - - Despoina Kalfakakou
./. 4 - c.388-44G>A r.(=) p.(=) g.68842283G>A - CDH1_000043 - - - - Despoina Kalfakakou
./. 2 - c.531+17T>C r.(=) p.(=) g.68842487T>C - CDH1_000044 - - - - Despoina Kalfakakou
./. 1 - c.532-25T>C r.(=) p.(=) g.68842571T>C - CDH1_000034 - - - - Despoina Kalfakakou
./. 12 - c.532-18C>T r.(=) p.(=) g.68842578C>T - CDH1_000008 - - - - Despoina Kalfakakou
./. 3 - c.670C>T r.(?) p.(Arg224Cys) g.68842734C>T - CDH1_000018 - - - - Despoina Kalfakakou
./. 1 - c.678C>A r.(=) p.(=) g.68842742C>A - CDH1_000009 - - - - Despoina Kalfakakou
./. 7 - c.687+20del r.(=) p.(=) g.68842771del - CDH1_000010 - - - - Despoina Kalfakakou
./. 3 - c.687+33G>A r.(=) p.(=) g.68842784G>A - CDH1_000037 - - - - Despoina Kalfakakou
./. 1 - c.712A>C r.(?) p.(Asn238His) g.68844124A>C - CDH1_000042 - - - - Despoina Kalfakakou
./. 1 - c.753G>A r.(=) p.(=) g.68844165G>A - CDH1_000045 - - - - Despoina Kalfakakou
./. 2 - c.832+52G>A r.(=) p.(=) g.68844296G>A - CDH1_000019 - - - - Despoina Kalfakakou
./. 2 - c.833-34T>C r.(=) p.(=) g.68845553T>C - CDH1_000038 - - - - Despoina Kalfakakou
./. 12 - c.892G>A r.(?) p.(Ala298Thr) g.68845646G>A - CDH1_000011 - - - - Despoina Kalfakakou
./. 2 - c.901G>A r.(?) p.(Ala301Thr) g.68845655G>A - CDH1_000052 - - - - Despoina Kalfakakou
./. 2 - c.933C>G r.(=) p.(=) g.68845687C>G - CDH1_000015 rs35539711 - - - Despoina Kalfakakou
./. 1 - c.1008+51T>C r.(=) p.(=) g.68845813T>C - CDH1_000020 - - - - Despoina Kalfakakou
./. 2 - c.1136C>T r.(?) p.(Thr379Met) g.68846165C>T - CDH1_000021 - - - - Despoina Kalfakakou
./. 3 - c.1224G>A r.(=) p.(=) g.68847302G>A - CDH1_000054 - - - - Despoina Kalfakakou
./. 2 - c.1272C>T r.(=) p.(=) g.68847350C>T - CDH1_000012 rs61756284 - - - Despoina Kalfakakou
./. 2 - c.1273G>A r.(?) p.(Val425Ile) g.68847351G>A - CDH1_000029 - - - - Despoina Kalfakakou
./. 1 - c.1296C>T r.(=) p.(=) g.68847374C>T - CDH1_000016 - - - - Despoina Kalfakakou
./. 1 - c.1321-34_1321-29del r.(=) p.(=) g.68849384_68849389del - CDH1_000049 - - - - Despoina Kalfakakou
./. 1 - c.1370C>T r.(?) p.(Thr457Met) g.68849467C>T - CDH1_000046 - - - - Despoina Kalfakakou
./. 1 - c.1409C>T r.(?) p.(Thr470Ile) g.68849506C>T - CDH1_000062 - - - - Despoina Kalfakakou
./. 1 - c.1423G>A r.(?) p.(Val475Met) g.68849520G>A - CDH1_000022 - - - - Despoina Kalfakakou
./. 2 - c.1566-49A>G r.(=) p.(=) g.68853134A>G - CDH1_000023 - - - - Despoina Kalfakakou
./. 1 - c.1568A>G r.(?) p.(Tyr523Cys) g.68853185A>G - CDH1_000060 - - - - Despoina Kalfakakou
./. 14 - c.1680G>C r.(=) p.(=) g.68853297G>C - CDH1_000013 rs35741240 - - - Despoina Kalfakakou
./. 19 - c.1774G>A r.(?) p.(Ala592Thr) g.68855966G>A - CDH1_000014 rs35187787 - - - Despoina Kalfakakou
./. 1 - c.1937-29T>C r.(=) p.(=) g.68857273T>C - CDH1_000040 - - - - Despoina Kalfakakou
./. 9 - c.1937-25C>A r.(=) p.(=) g.68857277C>A - CDH1_000001 - - - - Despoina Kalfakakou
./. 2 - c.2046G>A r.(=) p.(=) g.68857411G>A - CDH1_000058 - - - - Despoina Kalfakakou
./. 1 - c.2165-19G>C r.(=) p.(=) g.68862058G>C - CDH1_000053 - - - - Despoina Kalfakakou
./. 1 - c.2195G>T r.(?) p.(Arg732Leu) g.68862107G>T - CDH1_000047 - - - - Despoina Kalfakakou
./. 1 - c.2227C>A r.(?) p.(Pro743Thr) g.68862139C>A - CDH1_000057 - - - - Despoina Kalfakakou
./. 12 - c.2292C>T r.(=) p.(=) g.68862204C>T - CDH1_000002 rs61747636 - - - Despoina Kalfakakou
./. 2 - c.2296-14T>C r.(=) p.(=) g.68863543T>C - CDH1_000024 - - - - Despoina Kalfakakou
./. 1 - c.2356G>A r.(?) p.(Asp786Asn) g.68863617G>A - CDH1_000055 - - - - Despoina Kalfakakou
./. 2 - c.2387G>A r.(?) p.(Arg796Gln) g.68863648G>A - CDH1_000031 - - - - Despoina Kalfakakou
./. 1 - c.2398C>T r.(?) p.(Arg800Cys) g.68863659C>T - CDH1_000050 - - - - Despoina Kalfakakou
./. 2 - c.2413G>A r.(?) p.(Asp805Asn) g.68863674G>A - CDH1_000032 - - - - Despoina Kalfakakou
./. 1 - c.2439+10C>T r.(=) p.(=) g.68863710C>T - CDH1_000064 rs35236080 - - - Despoina Kalfakakou
./. 1 - c.2439+13C>T r.(=) p.(=) g.68863713C>T - CDH1_000056 - - - - Despoina Kalfakakou
./. 1 - c.2440-12_2440-10del r.spl? p.? g.68867181_68867183del - CDH1_000048 - - - - Despoina Kalfakakou
./. 24 - c.2440-6C>G r.(=) p.(=) g.68867187C>G - CDH1_000003 - - - - Despoina Kalfakakou
./. 1 - c.2440-5T>C r.spl? p.? g.68867188T>C - CDH1_000033 - - - - Despoina Kalfakakou
./. 1 - c.2451G>A r.(=) p.(=) g.68867204G>A - CDH1_000036 - - - - Despoina Kalfakakou
./. 4 - c.2494G>A r.(?) p.(Val832Met) g.68867247G>A - CDH1_000025 rs35572355 - - - Despoina Kalfakakou
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