Unique variants in gene CHEK2

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

80 entries on 1 page. Showing entries 1 - 80.
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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     
./. 1 - c.-4C>T r.(=) p.(=) g.29130713G>A - CHEK2_000074 - - - - Despoina Kalfakakou
./. 1 - c.100C>T r.(?) p.(Gln34*) g.29130610G>A - CHEK2_000068 - - - - Despoina Kalfakakou
./. 1 - c.134C>T r.(?) p.(Thr45Met) g.29130576G>A - CHEK2_000071 - - - - Despoina Kalfakakou
./. 1 - c.176C>T r.(?) p.(Thr59Ile) g.29130534G>A - CHEK2_000067 - - - - Despoina Kalfakakou
./. 2 - c.189A>G r.(=) p.(=) g.29130521T>C - CHEK2_000009 - - - - Despoina Kalfakakou
./. 4 - c.190G>A r.(?) p.(Glu64Lys) g.29130520C>T - CHEK2_000035 - - - - Despoina Kalfakakou
./. 1 - c.222del r.(?) p.(Pro75Leufs*35) g.29130488del - CHEK2_000029 - - - - Despoina Kalfakakou
./. 1 - c.239C>A r.(?) p.(Pro80His) g.29130471G>T - CHEK2_000027 - - - - Despoina Kalfakakou
./. 1 - c.284G>C r.(?) p.(Arg95Pro) g.29130426C>G - CHEK2_000052 - - - - Despoina Kalfakakou
./. 1 - c.319+17T>C r.(=) p.(=) g.29130374A>G - CHEK2_000048 - - - - Despoina Kalfakakou
./. 1 - c.319+353G>A r.(=) p.(=) g.29130038C>T - CHEK2_000069 rs17880388 - - - Despoina Kalfakakou
./. 1 - c.319+378_319+379insGAA r.(=) p.(=) g.29130012_29130013insTTC - CHEK2_000078 - - - - Despoina Kalfakakou
./. 2 - c.319+380C>T r.(=) p.(=) g.29130011G>A - CHEK2_000026 - - - - Despoina Kalfakakou
./. 1 - c.319+381_319+382insAAGGT r.(=) p.(=) g.29130009_29130010insACCTT - CHEK2_000077 - - - - Despoina Kalfakakou
./. 2 - c.319+411C>T r.(=) p.(=) g.29129980G>A - CHEK2_000066 - - - - Despoina Kalfakakou
./. 9 - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - Germline - - Despoina Kalfakakou
./. 2 - c.433C>T r.(?) p.(Arg145Trp) g.29121242G>A - CHEK2_000025 - - - - Despoina Kalfakakou
./. 1 - c.434G>C r.(?) p.(Arg145Pro) g.29121241C>G - CHEK2_000058 - - - - Despoina Kalfakakou
./. 1 - c.442A>G r.(?) p.(Arg148Gly) g.29121233T>C - CHEK2_000057 - - - - Despoina Kalfakakou
./. 1 - c.444+24C>T r.(=) p.(=) g.29121207G>A - CHEK2_000065 - - - - Despoina Kalfakakou
./. 1 - c.444+47A>C r.(=) p.(=) g.29121184T>G - CHEK2_000076 - - - - Despoina Kalfakakou
+?/-?, ./. 32 - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G [ Delimitsou et al 2019] CHEK2_000007 rs17879961 Germline ?, no No Despoina Kalfakakou
./. 10 - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - Germline ? No Despoina Kalfakakou
./. 3 - c.483_484insAGAA r.(?) p.(Asp162Argfs*25) g.29121073_29121074insTTCT - CHEK2_000081 - Germline ? No Despoina Kalfakakou
./. 5 - c.499G>A r.(?) p.(Gly167Arg) g.29121058C>T - CHEK2_000024 rs72552322 - - - Despoina Kalfakakou
./. 2 - c.507del r.(?) p.(Phe169Leufs*2) g.29121050del - CHEK2_000023 - - - - Despoina Kalfakakou
./. 5 - c.539G>A r.(?) p.(Arg180His) g.29121018C>T - CHEK2_000005 - - - - Despoina Kalfakakou
./. 2 - c.541C>T r.(?) p.(Arg181Cys) g.29121016G>A - CHEK2_000045 - - - - Despoina Kalfakakou
./. 2 - c.549G>C r.(?) p.(Leu183Phe) g.29121008C>G - CHEK2_000080 - Germline ? N/A, No Despoina Kalfakakou
./. 2 - c.592+3A>T r.spl? p.? g.29120962T>A - CHEK2_000031 - - - - Despoina Kalfakakou
./. 9 - c.592+50A>T r.(=) p.(=) g.29120915T>A - CHEK2_000004 rs17881298 - - - Despoina Kalfakakou
./. 1 - c.593-51G>A r.(=) p.(=) g.29115524C>T - CHEK2_000064 - - - - Despoina Kalfakakou
./. 1 - c.593-14C>T r.(=) p.(=) g.29115487G>A - CHEK2_000063 - - - - Despoina Kalfakakou
./. 1 - c.715G>C r.(?) p.(Glu239Gln) g.29107974C>G - CHEK2_000040 - - - - Despoina Kalfakakou
./. 1 - c.787G>C r.(?) p.(Glu263Gln) g.29107902C>G - CHEK2_000042 - - - - Despoina Kalfakakou
./. 8 - c.792+24C>T r.(=) p.(=) g.29107873G>A - CHEK2_000003 - - - - Despoina Kalfakakou
./. 1 - c.792+42C>G r.(=) p.(=) g.29107855G>C - CHEK2_000039 - - - - Despoina Kalfakakou
./. 1 - c.793-11G>C r.(=) p.(=) g.29106058C>G - CHEK2_000062 rs5997387 - - - Despoina Kalfakakou
./. 3 - c.847-17T>C r.(=) p.(=) g.29099571A>G - CHEK2_000022 - - - - Despoina Kalfakakou
./. 1 - c.906A>C r.(?) p.(Glu302Asp) g.29099495T>G - CHEK2_000060 - - - - Despoina Kalfakakou
./. 1 - c.908+19A>T r.(=) p.(=) g.29099474T>A - CHEK2_000021 - - - - Despoina Kalfakakou
./. 2 - c.917G>C r.(?) p.(Gly306Ala) g.29095917C>G, g.29121087A>G [Delimitsou et al 2019] CHEK2_000007, CHEK2_000072 - Germline ? No Despoina Kalfakakou
./. 1 - c.980A>G r.(?) p.(Tyr327Cys) g.29095854T>C - CHEK2_000050 - - - - Despoina Kalfakakou
./. 2 - c.1000G>A r.(?) p.(Ala334Thr) g.29095834C>T - CHEK2_000020 - - - - Despoina Kalfakakou
./. 1 - c.1008+15C>G r.(=) p.(=) g.29095811G>C - CHEK2_000033 - - - - Despoina Kalfakakou
./. 1 - c.1009-10T>G r.(=) p.(=) g.29092985A>C - CHEK2_000030 - - - - Despoina Kalfakakou
./. 1 - c.1036C>A r.(?) p.(Arg346Ser) g.29092948G>T - CHEK2_000059 - - - - Despoina Kalfakakou
./. 1 - c.1036C>T r.(?) p.(Arg346Cys) g.29092948G>A - CHEK2_000070 - - - - Despoina Kalfakakou
./. 3 - c.1067C>T r.(?) p.(Ser356Leu) g.29092917G>A - CHEK2_000044 - - - - Despoina Kalfakakou
./. 2 - c.1095+19G>A r.(=) p.(=) g.29092870C>T - CHEK2_000047 - - - - Despoina Kalfakakou
./. 1 - c.1160C>G r.(?) p.(Thr387Ser) g.29091797G>C - CHEK2_000002 - - - - Despoina Kalfakakou
./. 2 - c.1164C>T r.(=) p.(=) g.29091793G>A - CHEK2_000056 - - - - Despoina Kalfakakou
./. 1 - c.1169A>C r.(?) p.(Tyr390Ser) g.29091788T>G - CHEK2_000073 - - - - Despoina Kalfakakou
./. 1 - c.1169A>G r.(?) p.(Tyr390Cys) g.29091788T>C - CHEK2_000055 - - - - Despoina Kalfakakou
./. 2 - c.1188del r.(?) p.(Val397Phefs*17) g.29091769del - CHEK2_000041 - - - - Despoina Kalfakakou
./. 1 - c.1201A>G r.(?) p.(Thr401Ala) g.29091756T>C - CHEK2_000034 - - - - Despoina Kalfakakou
./. 3 - c.1232G>A r.(?) p.(Trp411*) g.29091725C>T - CHEK2_000019 - - - - Despoina Kalfakakou
./. 1 - c.1259+8A>G r.(=) p.(=) g.29091690T>C - CHEK2_000018 - - - - Despoina Kalfakakou
./. 15 - c.1260-8A>T r.(=) p.(=) g.29091238T>A - CHEK2_000001 - - - - Despoina Kalfakakou
./. 1 - c.1270T>C r.(?) p.(Tyr424His) g.29091220A>G - CHEK2_000017 - - - - Despoina Kalfakakou
./. 1 - c.1290T>C r.(=) p.(=) g.29091200A>G - CHEK2_000054 - - - - Despoina Kalfakakou
./., ?/- 21 - c.1312G>T r.(?) p.(Asp438Tyr) g.29091178C>A - CHEK2_000012 - Germline ? - Despoina Kalfakakou
./. 1 - c.1313A>G r.(?) p.(Asp438Gly) g.29091177T>C - CHEK2_000046 - - - - Despoina Kalfakakou
./. 4 - c.1336A>G r.(?) p.(Asn446Asp) g.29091154T>C - CHEK2_000011 - - - - Despoina Kalfakakou
./. 24 - c.1348G>A r.(?) p.(Glu450Lys) g.29091142C>T - CHEK2_000016 - - - - Despoina Kalfakakou
./. 1 - c.1401G>C r.(?) p.(Leu467Phe) g.29090080C>G - CHEK2_000015 - - - - Despoina Kalfakakou
./. 2 - c.1427C>A r.(?) p.(Thr476Lys) g.29090054G>T - CHEK2_000014 - - - - Despoina Kalfakakou
./. 4 - c.1427C>T r.(?) p.(Thr476Met) g.29090054G>A - CHEK2_000049 - - - - Despoina Kalfakakou
./. 1 - c.1497G>C r.(=) p.(=) g.29085168C>G - CHEK2_000075 - - - - Despoina Kalfakakou
./. 3 - c.1525C>T r.(?) p.(Pro509Ser) g.29085140G>A - CHEK2_000038 - - - - Despoina Kalfakakou
./. 6 - c.1526C>T r.(?) p.(Pro509Leu) g.29085139G>A - CHEK2_000037 - - - - Despoina Kalfakakou
./. 1 - c.1529A>G r.(?) p.(Gln510Arg) g.29085136T>C - CHEK2_000013 - - - - Despoina Kalfakakou
./. 5 - c.1542+48C>A r.(=) p.(=) g.29085075G>T - CHEK2_000028 rs4035546 - - - Despoina Kalfakakou
./. 1 - c.1543-12C>T r.(=) p.(=) g.29083986G>A - CHEK2_000079 - - - - Despoina Kalfakakou
./. 4 - c.1556G>T r.(?) p.(Arg519Leu) g.29083961C>A - CHEK2_000051 - - - - Despoina Kalfakakou
./. 2 - c.1566C>T r.(=) p.(=) g.29083951G>A - CHEK2_000036 - - - - Despoina Kalfakakou
./. 1 - c.1567C>T r.(?) p.(Arg523Cys) g.29083950G>A - CHEK2_000061 - - - - Despoina Kalfakakou
./. 8 - c.1608A>G r.(=) p.(=) g.29083909T>C - CHEK2_000010 rs17886242 - - - Despoina Kalfakakou
./. 1 - c.*4C>T r.(=) p.(=) g.29083881G>A - CHEK2_000043 - - - - Despoina Kalfakakou
./. 39 - c.*48A>T r.(=) p.(=) g.29083837T>A - CHEK2_000032 - - - - Despoina Kalfakakou
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