All transcript variants in gene CHEK2

Information The variants shown are described using the NM_001005735.1 transcript reference sequence.

107 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-6-43T>C r.(=) p.(=) g.29130758A>G Copied from the Exome Variant Server CHEK2_000107 1/13006 1/8600 0/4406
?/? c.-6-13C>T r.(=) p.(=) g.29130728G>A Copied from the Exome Variant Server CHEK2_000106 1/13006 1/8600 0/4406
?/? c.-6G>A r.(=) p.(=) g.29130715C>T Copied from the Exome Variant Server CHEK2_000105 8/13006 0/8600 8/4406
?/? c.-4C>T r.(=) p.(=) g.29130713G>A Copied from the Exome Variant Server CHEK2_000104 1/13006 0/8600 1/4406
?/? c.7C>T r.(?) p.(Arg3Trp) g.29130703G>A Copied from the Exome Variant Server CHEK2_000103 2/13006 2/8600 0/4406
?/? c.14C>T r.(?) p.(Ser5Leu) g.29130696G>A Copied from the Exome Variant Server CHEK2_000102 1/13006 1/8600 0/4406
?/? c.15G>A r.(=) p.(=) g.29130695C>T Copied from the Exome Variant Server CHEK2_000101 2/13006 0/8600 2/4406
?/? c.32A>G r.(?) p.(Gln11Arg) g.29130678T>C Copied from the Exome Variant Server CHEK2_000100 1/13006 0/8600 1/4406
?/? c.79C>G r.(?) p.(Gln27Glu) g.29130631G>C Copied from the Exome Variant Server CHEK2_000099 1/13006 1/8600 0/4406
?/? c.152del r.(?) p.(Gln51Argfs*10) g.29130558del Copied from the Exome Variant Server CHEK2_000098 1/12518 1/8254 0/4264
?/? c.157T>A r.(?) p.(Ser53Thr) g.29130553A>T Copied from the Exome Variant Server CHEK2_000097 1/13006 1/8600 0/4406
?/? c.176C>A r.(?) p.(Thr59Lys) g.29130534G>T Copied from the Exome Variant Server CHEK2_000096 2/13006 2/8600 0/4406
?/? c.190G>A r.(?) p.(Glu64Lys) g.29130520C>T Copied from the Exome Variant Server CHEK2_000095 6/13006 6/8600 0/4406
?/? c.247del r.(?) p.(Gln83Lysfs*54) g.29130463del Copied from the Exome Variant Server CHEK2_000094 1/12518 1/8254 0/4264
?/? c.252A>G r.(=) p.(=) g.29130458T>C Copied from the Exome Variant Server CHEK2_000093 507/13006 237/8600 270/4406
?/? c.254C>T r.(?) p.(Pro85Leu) g.29130456G>A Copied from the Exome Variant Server CHEK2_000092 31/13006 0/8600 31/4406
?/? c.277del r.(?) p.(Trp93Glyfs*44) g.29130433del Copied from the Exome Variant Server CHEK2_000091 1/12518 1/8254 0/4264
?/? c.319+43_319+44insA r.(=) p.(=) g.29130347_29130348insT Copied from the Exome Variant Server CHEK2_000090 1781/12510 1371/8250 410/4260
?/? c.449-5T>A r.spl? p.? g.29121360A>T Copied from the Exome Variant Server CHEK2_000089 5/13006 4/8600 1/4406
?/? c.478A>G r.(?) p.(Arg160Gly) g.29121326T>C Copied from the Exome Variant Server CHEK2_000088 2/13006 1/8600 1/4406
?/? c.485A>G r.(?) p.(Lys162Arg) g.29121319T>C Copied from the Exome Variant Server CHEK2_000087 1/13006 0/8600 1/4406
?/? c.518T>A r.(?) p.(Leu173Gln) g.29121286A>T Copied from the Exome Variant Server CHEK2_000086 1/13006 1/8600 0/4406
?/? c.529G>C r.(?) p.(Asp177His) g.29121275C>G Copied from the Exome Variant Server CHEK2_000085 1/13006 1/8600 0/4406
?/? c.539G>A r.(?) p.(Arg180Gln) g.29121265C>T Copied from the Exome Variant Server CHEK2_000084 1/13006 1/8600 0/4406
?/? c.562C>T r.(?) p.(Arg188Trp) g.29121242G>A Copied from the Exome Variant Server CHEK2_000083 1/13006 1/8600 0/4406
?/? c.572G>T r.(?) p.(Arg191Met) g.29121232C>A Copied from the Exome Variant Server CHEK2_000082 1/13006 1/8600 0/4406
?/? c.573+19T>C r.(=) p.(=) g.29121212A>G Copied from the Exome Variant Server CHEK2_000081 2/13006 2/8600 0/4406
?/? c.573+24C>T r.(=) p.(=) g.29121207G>A Copied from the Exome Variant Server CHEK2_000080 20/13006 20/8600 0/4406
?/? c.573+49T>G r.(=) p.(=) g.29121182A>C Copied from the Exome Variant Server CHEK2_000079 1/13006 1/8600 0/4406
?/? c.574-50C>G r.(=) p.(=) g.29121162G>C Copied from the Exome Variant Server CHEK2_000078 1/13006 1/8600 0/4406
?/? c.574-40_574-39del r.(=) p.(=) g.29121151_29121152del Copied from the Exome Variant Server CHEK2_000077 1/12516 1/8254 0/4262
?/? c.599T>C r.(?) p.(Ile200Thr) g.29121087A>G Copied from the Exome Variant Server CHEK2_000076 21/13004 21/8600 0/4404
?/? c.600T>C r.(=) p.(=) g.29121086A>G Copied from the Exome Variant Server CHEK2_000075 1/13004 1/8600 0/4404
?/? c.612_614del r.(?) p.(Glu204del) g.29121072_29121074del Copied from the Exome Variant Server CHEK2_000074 1/12516 0/8254 1/4262
?/? c.628G>A r.(?) p.(Gly210Arg) g.29121058C>T Copied from the Exome Variant Server CHEK2_000073 1/13004 1/8600 0/4404
?/? c.629G>A r.(?) p.(Gly210Glu) g.29121057C>T Copied from the Exome Variant Server CHEK2_000072 1/13004 1/8600 0/4404
?/? c.653_654insT r.(?) p.(Gly219Argfs*10) g.29121032_29121033insA Copied from the Exome Variant Server CHEK2_000071 1/12516 0/8254 1/4262
?/? c.667C>T r.(?) p.(Arg223Cys) g.29121019G>A Copied from the Exome Variant Server CHEK2_000070 14/13004 11/8598 3/4406
?/? c.670C>T r.(?) p.(Arg224Cys) g.29121016G>A Copied from the Exome Variant Server CHEK2_000069 2/13004 1/8598 1/4406
?/? c.671G>A r.(?) p.(Arg224His) g.29121015C>T Copied from the Exome Variant Server CHEK2_000068 1/13004 0/8598 1/4406
?/? c.674C>A r.(?) p.(Pro225His) g.29121012G>T Copied from the Exome Variant Server CHEK2_000067 1/13004 1/8598 0/4406
?/? c.685A>C r.(?) p.(Asn229His) g.29121001T>G Copied from the Exome Variant Server CHEK2_000066 1/13004 1/8598 0/4406
?/? c.686A>G r.(?) p.(Asn229Ser) g.29121000T>C Copied from the Exome Variant Server CHEK2_000065 1/13004 1/8598 0/4406
?/? c.720del r.(?) p.(Val241Phefs*7) g.29120966del Copied from the Exome Variant Server CHEK2_000064 1/12518 0/8254 1/4264
?/? c.721+4A>G r.spl? p.? g.29120961T>C Copied from the Exome Variant Server CHEK2_000063 1/13006 1/8600 0/4406
?/? c.721+39del r.(=) p.(=) g.29120926del Copied from the Exome Variant Server CHEK2_000062 91/12518 41/8254 50/4264
?/? c.721+39dup r.(=) p.(=) g.29120926dup Copied from the Exome Variant Server CHEK2_000061 58/12518 31/8254 27/4264
?/? c.721+50A>T r.(=) p.(=) g.29120915T>A Copied from the Exome Variant Server CHEK2_000060 37/13002 34/8600 3/4402
?/? c.722-20_722-18del r.(=) p.(=) g.29115491_29115493del Copied from the Exome Variant Server CHEK2_000059 1/12340 1/8148 0/4192
?/? c.722-14C>T r.(=) p.(=) g.29115487G>A Copied from the Exome Variant Server CHEK2_000058 3/12858 3/8518 0/4340
?/? c.722-11_722-7del r.(=) p.(=) g.29115480_29115484del Copied from the Exome Variant Server CHEK2_000057 1/12378 1/8178 0/4200
?/? c.729C>G r.(=) p.(=) g.29115466G>C Copied from the Exome Variant Server CHEK2_000056 1/12900 1/8530 0/4370
?/? c.790A>G r.(?) p.(Ile264Val) g.29115405T>C Copied from the Exome Variant Server CHEK2_000055 1/12930 1/8556 0/4374
?/? c.792C>G r.(?) p.(Ile264Met) g.29115403G>C Copied from the Exome Variant Server CHEK2_000054 2/12934 0/8560 2/4374
?/? c.812+46A>G r.(=) p.(=) g.29115337T>C Copied from the Exome Variant Server CHEK2_000053 3/12486 0/8254 3/4232
?/? c.813-37del r.(=) p.(=) g.29108042del Copied from the Exome Variant Server CHEK2_000052 7/12514 4/8252 3/4262
?/? c.844G>A r.(?) p.(Glu282Lys) g.29107974C>T Copied from the Exome Variant Server CHEK2_000051 2/13004 2/8598 0/4406
?/? c.855A>G r.(=) p.(=) g.29107963T>C Copied from the Exome Variant Server CHEK2_000050 1/13004 0/8598 1/4406
?/? c.856T>C r.(?) p.(Cys286Arg) g.29107962A>G Copied from the Exome Variant Server CHEK2_000049 1/13004 1/8598 0/4406
?/? c.921+24C>T r.(=) p.(=) g.29107873G>A Copied from the Exome Variant Server CHEK2_000048 3/13002 3/8598 0/4404
?/? c.921+32A>G r.(=) p.(=) g.29107865T>C Copied from the Exome Variant Server CHEK2_000047 1/13002 1/8598 0/4404
?/? c.921+40G>A r.(=) p.(=) g.29107857C>T Copied from the Exome Variant Server CHEK2_000046 1/13002 0/8600 1/4402
?/? c.921+42C>G r.(=) p.(=) g.29107855G>C Copied from the Exome Variant Server CHEK2_000045 1/13002 1/8600 0/4402
?/? c.922-11G>A r.(=) p.(=) g.29106058C>T Copied from the Exome Variant Server CHEK2_000044 6/12944 0/8570 6/4374
?/? c.975+22A>G r.(=) p.(=) g.29105972T>C Copied from the Exome Variant Server CHEK2_000043 2/12954 0/8576 2/4378
?/? c.975+35T>C r.(=) p.(=) g.29105959A>G Copied from the Exome Variant Server CHEK2_000042 24/12926 2/8558 22/4368
?/? c.975+47T>C r.(=) p.(=) g.29105947A>G Copied from the Exome Variant Server CHEK2_000041 1/12924 1/8552 0/4372
?/? c.976-29C>T r.(=) p.(=) g.29099583G>A Copied from the Exome Variant Server CHEK2_000040 1/12974 0/8590 1/4384
?/? c.1081C>T r.(?) p.(Arg361Cys) g.29095882G>A Copied from the Exome Variant Server CHEK2_000039 2/13006 0/8600 2/4406
?/? c.1082G>A r.(?) p.(Arg361His) g.29095881C>T Copied from the Exome Variant Server CHEK2_000038 2/13006 2/8600 0/4406
?/? c.1091A>C r.(?) p.(Glu364Ala) g.29095872T>G Copied from the Exome Variant Server CHEK2_000037 1/13006 1/8600 0/4406
?/? c.1137+13C>T r.(=) p.(=) g.29095813G>A Copied from the Exome Variant Server CHEK2_000036 2/13006 2/8600 0/4406
?/? c.1138-29C>A r.(=) p.(=) g.29093004G>T Copied from the Exome Variant Server CHEK2_000035 1/13006 1/8600 0/4406
?/? c.1142T>A r.(?) p.(Leu381His) g.29092971A>T Copied from the Exome Variant Server CHEK2_000034 1/13004 1/8598 0/4406
?/? c.1144C>T r.(?) p.(His382Tyr) g.29092969G>A Copied from the Exome Variant Server CHEK2_000033 1/13006 1/8600 0/4406
?/? c.1152C>T r.(=) p.(=) g.29092961G>A Copied from the Exome Variant Server CHEK2_000032 1/13006 1/8600 0/4406
?/? c.1156A>G r.(?) p.(Ile386Val) g.29092957T>C Copied from the Exome Variant Server CHEK2_000031 1/13006 1/8600 0/4406
?/? c.1224+32C>G r.(=) p.(=) g.29092857G>C Copied from the Exome Variant Server CHEK2_000030 1/13006 0/8600 1/4406
?/? c.1229del r.(?) p.(Thr410Metfs*15) g.29091857del Copied from the Exome Variant Server CHEK2_000029 15/12504 14/8248 1/4256
?/? c.1244C>T r.(?) p.(Ser415Phe) g.29091842G>A Copied from the Exome Variant Server CHEK2_000028 1/13006 1/8600 0/4406
?/? c.1270A>G r.(?) p.(Met424Val) g.29091816T>C Copied from the Exome Variant Server CHEK2_000027 3/13006 3/8600 0/4406
?/? c.1283G>A r.(?) p.(Cys428Tyr) g.29091803C>T Copied from the Exome Variant Server CHEK2_000026 1/13006 1/8600 0/4406
?/? c.1304C>T r.(?) p.(Ala435Val) g.29091782G>A Copied from the Exome Variant Server CHEK2_000025 1/13006 1/8600 0/4406
?/? c.1305G>A r.(=) p.(=) g.29091781C>T Copied from the Exome Variant Server CHEK2_000024 8/13006 0/8600 8/4406
?/? c.1343A>G r.(?) p.(Asn448Ser) g.29091743T>C Copied from the Exome Variant Server CHEK2_000023 1/13006 1/8600 0/4406
?/? c.1346G>A r.(?) p.(Arg449His) g.29091740C>T Copied from the Exome Variant Server CHEK2_000022 1/13006 1/8600 0/4406
?/? c.1361G>A r.(?) p.(Trp454*) g.29091725C>T Copied from the Exome Variant Server CHEK2_000021 1/12998 1/8594 0/4404
?/? c.1388+8A>G r.(=) p.(=) g.29091690T>C Copied from the Exome Variant Server CHEK2_000020 1/13000 1/8598 0/4402
?/? c.1389-50C>A r.(=) p.(=) g.29091280G>T Copied from the Exome Variant Server CHEK2_000019 2/12882 2/8532 0/4350
?/? c.1392del r.(?) p.(Ser465Valfs*15) g.29091227del Copied from the Exome Variant Server CHEK2_000018 1/12514 1/8252 0/4262
?/? c.1399T>C r.(?) p.(Tyr467His) g.29091220A>G Copied from the Exome Variant Server CHEK2_000017 3/13006 3/8600 0/4406
?/? c.1412C>T r.(?) p.(Ser471Phe) g.29091207G>A Copied from the Exome Variant Server CHEK2_000016 2/13006 2/8600 0/4406
?/? c.1441G>T r.(?) p.(Asp481Tyr) g.29091178C>A Copied from the Exome Variant Server CHEK2_000015 4/13006 3/8600 1/4406
?/? c.1472T>G r.(?) p.(Ile491Ser) g.29091147A>C Copied from the Exome Variant Server CHEK2_000014 88/13006 1/8600 87/4406
?/? c.1481T>C r.(?) p.(Val494Ala) g.29091138A>G Copied from the Exome Variant Server CHEK2_000013 1/13006 1/8600 0/4406
?/? c.1497_1498insA r.(?) p.(Glu500Argfs*33) g.29091121_29091122insT Copied from the Exome Variant Server CHEK2_000012 1/12518 1/8254 0/4264
?/? c.1536G>A r.(=) p.(=) g.29090074C>T Copied from the Exome Variant Server CHEK2_000011 17/7478 0/4696 17/2782
?/? c.1550G>A r.(?) p.(Arg517His) g.29090060C>T Copied from the Exome Variant Server CHEK2_000010 2/7466 1/4694 1/2772
?/? c.1552T>A r.(?) p.(Phe518Ile) g.29090058A>T Copied from the Exome Variant Server CHEK2_000009 1/7472 1/4692 0/2780
?/? c.1556C>T r.(?) p.(Thr519Met) g.29090054G>A Copied from the Exome Variant Server CHEK2_000008 3/7478 3/4698 0/2780
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