All transcript variants in gene CHEK1

Information The variants shown are described using the NM_001274.5 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-18G>T r.(=) p.(=) g.125496646G>T Copied from the Exome Variant Server CHEK1_000001 1/13000 0/8598 1/4402
?/? c.39A>G r.(=) p.(=) g.125496702A>G Copied from the Exome Variant Server CHEK1_000002 5/13000 0/8598 5/4402
?/? c.65+8C>T r.(=) p.(=) g.125496736C>T Copied from the Exome Variant Server CHEK1_000003 1/13000 1/8598 0/4402
?/? c.65+20C>T r.(=) p.(=) g.125496748C>T Copied from the Exome Variant Server CHEK1_000004 13/13000 0/8598 13/4402
?/? c.65+21C>T r.(=) p.(=) g.125496749C>T Copied from the Exome Variant Server CHEK1_000005 2/13000 2/8598 0/4402
?/? c.65+24C>T r.(=) p.(=) g.125496752C>T Copied from the Exome Variant Server CHEK1_000006 1/13000 1/8598 0/4402
?/? c.66-36del r.(=) p.(=) g.125497466del Copied from the Exome Variant Server CHEK1_000007 1027/12452 537/8234 490/4218
?/? c.66-36G>T r.(=) p.(=) g.125497466G>T Copied from the Exome Variant Server CHEK1_000008 4155/12978 2535/8588 1620/4390
?/? c.66-33A>G r.(=) p.(=) g.125497469A>G Copied from the Exome Variant Server CHEK1_000009 4/12988 4/8594 0/4394
?/? c.116T>C r.(?) p.(Ile39Thr) g.125497552T>C Copied from the Exome Variant Server CHEK1_000010 1/13000 1/8598 0/4402
?/? c.159G>A r.(=) p.(=) g.125497595G>A Copied from the Exome Variant Server CHEK1_000011 1/13000 1/8598 0/4402
?/? c.201A>G r.(=) p.(=) g.125497637A>G Copied from the Exome Variant Server CHEK1_000012 1/13000 1/8598 0/4402
?/? c.205A>G r.(?) p.(Lys69Glu) g.125497641A>G Copied from the Exome Variant Server CHEK1_000013 1/13000 1/8598 0/4402
?/? c.212A>G r.(?) p.(Tyr71Cys) g.125497648A>G Copied from the Exome Variant Server CHEK1_000014 1/13000 1/8598 0/4402
?/? c.240A>G r.(=) p.(=) g.125497676A>G Copied from the Exome Variant Server CHEK1_000015 1/12996 1/8594 0/4402
?/? c.289+19A>G r.(=) p.(=) g.125497744A>G Copied from the Exome Variant Server CHEK1_000016 1/12912 0/8566 1/4346
?/? c.290-64A>G r.(=) p.(=) g.125499063A>G Copied from the Exome Variant Server CHEK1_000017 316/4566 193/3182 123/1384
?/? c.290-20T>C r.(=) p.(=) g.125499107T>C Copied from the Exome Variant Server CHEK1_000018 1/13000 0/8598 1/4402
?/? c.290-11A>G r.(=) p.(=) g.125499116A>G Copied from the Exome Variant Server CHEK1_000019 2/13000 1/8598 1/4402
?/? c.354G>A r.(=) p.(=) g.125499191G>A Copied from the Exome Variant Server CHEK1_000020 1/13000 1/8598 0/4402
?/? c.363G>A r.(=) p.(=) g.125499294G>A Copied from the Exome Variant Server CHEK1_000021 1/13000 1/8598 0/4402
?/? c.387G>A r.(=) p.(=) g.125499318G>A Copied from the Exome Variant Server CHEK1_000022 9/13000 0/8598 9/4402
?/? c.415G>T r.(?) p.(Asp139Tyr) g.125499346G>T Copied from the Exome Variant Server CHEK1_000023 1/13000 0/8598 1/4402
?/? c.424+24C>T r.(=) p.(=) g.125499379C>T Copied from the Exome Variant Server CHEK1_000024 1/12978 0/8586 1/4392
?/? c.425-27G>A r.(=) p.(=) g.125503031G>A Copied from the Exome Variant Server CHEK1_000025 3/12998 0/8598 3/4400
?/? c.466C>T r.(?) p.(Arg156Trp) g.125503099C>T Copied from the Exome Variant Server CHEK1_000026 1/13000 1/8598 0/4402
?/? c.467G>A r.(?) p.(Arg156Gln) g.125503100G>A Copied from the Exome Variant Server CHEK1_000027 10/13000 0/8598 10/4402
?/? c.478C>T r.(?) p.(Arg160Cys) g.125503111C>T Copied from the Exome Variant Server CHEK1_000028 1/13000 1/8598 0/4402
?/? c.498G>C r.(?) p.(Lys166Asn) g.125503131G>C Copied from the Exome Variant Server CHEK1_000029 1/13000 1/8598 0/4402
?/? c.607G>A r.(?) p.(Ala203Thr) g.125503240G>A Copied from the Exome Variant Server CHEK1_000030 1/13000 1/8598 0/4402
?/? c.613+33T>C r.(=) p.(=) g.125503279T>C Copied from the Exome Variant Server CHEK1_000031 1/13000 0/8598 1/4402
?/? c.614-43T>C r.(=) p.(=) g.125505281T>C Copied from the Exome Variant Server CHEK1_000032 2/12946 2/8576 0/4370
?/? c.614-34C>T r.(=) p.(=) g.125505290C>T Copied from the Exome Variant Server CHEK1_000033 1/12992 0/8594 1/4398
?/? c.614-33_614-24del r.(=) p.(=) g.125505291_125505300del Copied from the Exome Variant Server CHEK1_000034 1/12508 1/8250 0/4258
?/? c.614-8G>A r.(=) p.(=) g.125505316G>A Copied from the Exome Variant Server CHEK1_000035 3/13000 0/8598 3/4402
?/? c.648G>C r.(?) p.(Gln216His) g.125505358G>C Copied from the Exome Variant Server CHEK1_000036 1/13000 1/8598 0/4402
?/? c.678A>G r.(=) p.(=) g.125505388A>G Copied from the Exome Variant Server CHEK1_000037 2/13000 0/8598 2/4402
?/? c.718+32G>A r.(=) p.(=) g.125505460G>A Copied from the Exome Variant Server CHEK1_000039 5/12998 2/8598 3/4400
?/? c.719-17G>A r.(=) p.(=) g.125507327G>A Copied from the Exome Variant Server CHEK1_000042 1/12998 1/8598 0/4400
?/? c.814+37G>T r.(=) p.(=) g.125507476G>T Copied from the Exome Variant Server CHEK1_000043 23/13000 0/8598 23/4402
?/? c.877C>T r.(?) p.(His293Tyr) g.125513749C>T Copied from the Exome Variant Server CHEK1_000046 1/13000 1/8598 0/4402
?/? c.912C>G r.(?) p.(Asn304Lys) g.125513784C>G Copied from the Exome Variant Server CHEK1_000038 1/13000 0/8598 1/4402
?/? c.923+31A>T r.(=) p.(=) g.125513826A>T Copied from the Exome Variant Server CHEK1_000040 1/13000 0/8598 1/4402
?/? c.923+34G>A r.(=) p.(=) g.125513829G>A Copied from the Exome Variant Server CHEK1_000041 17/13000 16/8598 1/4402
?/? c.923+43C>T r.(=) p.(=) g.125513838C>T Copied from the Exome Variant Server CHEK1_000044 1/13000 0/8598 1/4402
?/? c.923+46A>G r.(=) p.(=) g.125513841A>G Copied from the Exome Variant Server CHEK1_000045 1/13000 0/8598 1/4402
?/? c.1000T>A r.(?) p.(Tyr334Asn) g.125514062T>A Copied from the Exome Variant Server CHEK1_000047 1/13000 1/8598 0/4402
?/? c.1032T>C r.(=) p.(=) g.125514094T>C Copied from the Exome Variant Server CHEK1_000048 1/13000 1/8598 0/4402
?/? c.1036C>T r.(?) p.(Gln346*) g.125514098C>T Copied from the Exome Variant Server CHEK1_000049 1/13000 1/8598 0/4402
?/? c.1042A>C r.(?) p.(Thr348Pro) g.125514104A>C Copied from the Exome Variant Server CHEK1_000050 1/13000 1/8598 0/4402
?/? c.1101+11T>A r.(=) p.(=) g.125514174T>A Copied from the Exome Variant Server CHEK1_000051 2/13000 2/8598 0/4402
?/? c.1102-39C>G r.(=) p.(=) g.125514368C>G Copied from the Exome Variant Server CHEK1_000052 1/13000 1/8598 0/4402
?/? c.1107C>T r.(=) p.(=) g.125514412C>T Copied from the Exome Variant Server CHEK1_000053 1/13000 1/8598 0/4402
?/? c.1137A>G r.(=) p.(=) g.125514442A>G Copied from the Exome Variant Server CHEK1_000054 1/13000 1/8598 0/4402
?/? c.1188T>C r.(=) p.(=) g.125514493T>C Copied from the Exome Variant Server CHEK1_000055 1/13000 1/8598 0/4402
?/? c.1209A>G r.(=) p.(=) g.125514514A>G Copied from the Exome Variant Server CHEK1_000056 1/13000 0/8598 1/4402
?/? c.1217A>C r.(?) p.(Lys406Thr) g.125514522A>C Copied from the Exome Variant Server CHEK1_000057 3/13000 3/8598 0/4402
?/? c.1233+35G>A r.(=) p.(=) g.125514573G>A Copied from the Exome Variant Server CHEK1_000058 5674/13000 4403/8598 1271/4402
?/? c.1233+46T>G r.(=) p.(=) g.125514584T>G Copied from the Exome Variant Server CHEK1_000059 55/12996 0/8598 55/4398
?/? c.1234-47T>C r.(=) p.(=) g.125523594T>C Copied from the Exome Variant Server CHEK1_000060 1/12980 1/8582 0/4398
?/? c.1234-46A>G r.(=) p.(=) g.125523595A>G Copied from the Exome Variant Server CHEK1_000061 4/12978 4/8580 0/4398
?/? c.1234-33C>G r.(=) p.(=) g.125523608C>G Copied from the Exome Variant Server CHEK1_000062 20/12982 18/8584 2/4398
?/? c.1240A>G r.(?) p.(Ile414Val) g.125523647A>G Copied from the Exome Variant Server CHEK1_000063 3/12988 2/8590 1/4398
?/? c.1260A>G r.(=) p.(=) g.125523667A>G Copied from the Exome Variant Server CHEK1_000064 205/12984 4/8586 201/4398
?/? c.1262A>G r.(?) p.(Asn421Ser) g.125523669A>G Copied from the Exome Variant Server CHEK1_000065 1/12986 1/8588 0/4398
?/? c.1336-49G>C r.(=) p.(=) g.125525071G>C Copied from the Exome Variant Server CHEK1_000066 1/12918 0/8566 1/4352
?/? c.1396G>A r.(?) p.(Val466Met) g.125525180G>A Copied from the Exome Variant Server CHEK1_000067 1/13000 1/8598 0/4402
?/? c.1411A>G r.(?) p.(Ile471Val) g.125525195A>G Copied from the Exome Variant Server CHEK1_000068 12660/13000 8286/8598 4374/4402
?/? c.*3G>A r.(=) p.(=) g.125525218G>A Copied from the Exome Variant Server CHEK1_000069 1/13000 1/8598 0/4402
?/? c.*22A>T r.(=) p.(=) g.125525237A>T Copied from the Exome Variant Server CHEK1_000070 1/13000 0/8598 1/4402
?/? c.*53_*55del r.(=) p.(=) g.125525268_125525270del Copied from the Exome Variant Server CHEK1_000071 2/12518 2/8254 0/4264
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