All transcript variants in gene CKB

Information The variants shown are described using the NM_001823.4 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-12-3C>T r.spl? p.? g.103988845G>A Copied from the Exome Variant Server CKB_000052 1/12974 1/8590 0/4384
?/? c.-9G>A r.(=) p.(=) g.103988839C>T Copied from the Exome Variant Server CKB_000051 1/12984 1/8594 0/4390
?/? c.17G>T r.(?) p.(Ser6Ile) g.103988814C>A Copied from the Exome Variant Server CKB_000050 1/13000 0/8600 1/4400
?/? c.21C>G r.(?) p.(His7Gln) g.103988810G>C Copied from the Exome Variant Server CKB_000049 1/13002 0/8600 1/4402
?/? c.42C>T r.(=) p.(=) g.103988789G>A Copied from the Exome Variant Server CKB_000048 1/13004 1/8600 0/4404
?/? c.66C>T r.(=) p.(=) g.103988765G>A Copied from the Exome Variant Server CKB_000047 3/13006 0/8600 3/4406
?/? c.193+21G>A r.(=) p.(=) g.103988617C>T Copied from the Exome Variant Server CKB_000046 4/12726 0/8464 4/4262
?/? c.193+24del r.(=) p.(=) g.103988614del Copied from the Exome Variant Server CKB_000045 4/12062 2/8020 2/4042
?/? c.193+44_193+45insC r.(=) p.(=) g.103988593_103988594insG Copied from the Exome Variant Server CKB_000044 33/10468 11/7114 22/3354
?/? c.194-34C>T r.(=) p.(=) g.103988548G>A Copied from the Exome Variant Server CKB_000043 1/12810 0/8468 1/4342
?/? c.194-32T>C r.(=) p.(=) g.103988546A>G Copied from the Exome Variant Server CKB_000042 1/12842 1/8496 0/4346
?/? c.194-22C>T r.(=) p.(=) g.103988536G>A Copied from the Exome Variant Server CKB_000041 1/12876 0/8516 1/4360
?/? c.247G>A r.(?) p.(Glu83Lys) g.103988461C>T Copied from the Exome Variant Server CKB_000040 1/12990 1/8594 0/4396
?/? c.349-4C>G r.spl? p.? g.103988291G>C Copied from the Exome Variant Server CKB_000039 256/11150 5/7494 251/3656
?/? c.456C>A r.(=) p.(=) g.103988180G>T Copied from the Exome Variant Server CKB_000038 5740/9058 4002/6156 1738/2902
?/? c.482-42G>A r.(=) p.(=) g.103987813C>T Copied from the Exome Variant Server CKB_000037 1/12290 1/8132 0/4158
?/? c.482-26G>C r.(=) p.(=) g.103987797C>G Copied from the Exome Variant Server CKB_000036 16/12932 8/8564 8/4368
?/? c.604C>T r.(=) p.(=) g.103987649G>A Copied from the Exome Variant Server CKB_000035 1/12992 0/8592 1/4400
?/? c.636C>G r.(=) p.(=) g.103987617G>C Copied from the Exome Variant Server CKB_000034 2/12980 2/8586 0/4394
?/? c.653+14T>A r.(=) p.(=) g.103987586A>T Copied from the Exome Variant Server CKB_000033 1/12954 1/8578 0/4376
?/? c.653+24C>T r.(=) p.(=) g.103987576G>A Copied from the Exome Variant Server CKB_000032 26/12900 22/8552 4/4348
?/? c.654-49C>T r.(=) p.(=) g.103986978G>A Copied from the Exome Variant Server CKB_000031 9/12976 0/8594 9/4382
?/? c.663C>T r.(=) p.(=) g.103986920G>A Copied from the Exome Variant Server CKB_000030 1/12998 1/8600 0/4398
?/? c.726G>T r.(?) p.(Lys242Asn) g.103986857C>A Copied from the Exome Variant Server CKB_000029 1/12998 1/8600 0/4398
?/? c.741G>A r.(=) p.(=) g.103986842C>T Copied from the Exome Variant Server CKB_000028 1/12998 1/8600 0/4398
?/? c.744G>C r.(?) p.(Glu248Asp) g.103986839C>G Copied from the Exome Variant Server CKB_000027 1/12994 1/8598 0/4396
?/? c.754C>T r.(?) p.(Arg252Cys) g.103986829G>A Copied from the Exome Variant Server CKB_000026 2/12998 2/8600 0/4398
?/? c.777+30A>G r.(=) p.(=) g.103986776T>C Copied from the Exome Variant Server CKB_000025 1/12954 1/8578 0/4376
?/? c.777+33G>A r.(=) p.(=) g.103986773C>T Copied from the Exome Variant Server CKB_000024 1/12946 1/8576 0/4370
?/? c.777+51G>A r.(=) p.(=) g.103986755C>T Copied from the Exome Variant Server CKB_000023 7/12958 0/8580 7/4378
?/? c.806A>G r.(?) p.(Tyr269Cys) g.103986620T>C Copied from the Exome Variant Server CKB_000022 1/13006 1/8600 0/4406
?/? c.809A>G r.(?) p.(Glu270Gly) g.103986617T>C Copied from the Exome Variant Server CKB_000020 1/13006 1/8600 0/4406
?/? c.829C>T r.(=) p.(=) g.103986597G>A Copied from the Exome Variant Server CKB_000018 1/13006 0/8600 1/4406
?/? c.867C>T r.(=) p.(=) g.103986559G>A Copied from the Exome Variant Server CKB_000016 1/13006 1/8600 0/4406
?/? c.879A>G r.(=) p.(=) g.103986547T>C Copied from the Exome Variant Server CKB_000014 1/13006 1/8600 0/4406
?/? c.926C>T r.(?) p.(Ser309Leu) g.103986500G>A Copied from the Exome Variant Server CKB_000021 4/13006 0/8600 4/4406
?/? c.931G>A r.(?) p.(Val311Met) g.103986495C>T Copied from the Exome Variant Server CKB_000019 1/13006 1/8600 0/4406
?/? c.967+3G>T r.spl? p.? g.103986456C>A Copied from the Exome Variant Server CKB_000017 36/13006 0/8600 36/4406
?/? c.967+8G>A r.(=) p.(=) g.103986451C>T Copied from the Exome Variant Server CKB_000015 1/13006 1/8600 0/4406
?/? c.967+21G>A r.(=) p.(=) g.103986438C>T Copied from the Exome Variant Server CKB_000013 2/13006 2/8600 0/4406
?/? c.968-37G>A r.(=) p.(=) g.103986416C>T Copied from the Exome Variant Server CKB_000012 2/13006 2/8600 0/4406
?/? c.968-8C>T r.(=) p.(=) g.103986387G>A Copied from the Exome Variant Server CKB_000011 2/13002 2/8598 0/4404
?/? c.982G>A r.(?) p.(Ala328Thr) g.103986365C>T Copied from the Exome Variant Server CKB_000010 1/13002 1/8598 0/4404
?/? c.1005C>T r.(=) p.(=) g.103986342G>A Copied from the Exome Variant Server CKB_000009 1/13004 1/8600 0/4404
?/? c.1075C>T r.(=) p.(=) g.103986272G>A Copied from the Exome Variant Server CKB_000008 1/13004 1/8600 0/4404
?/? c.1077G>A r.(=) p.(=) g.103986270C>T Copied from the Exome Variant Server CKB_000007 60/13004 0/8600 60/4404
?/? c.1082T>C r.(?) p.(Ile361Thr) g.103986265A>G Copied from the Exome Variant Server CKB_000006 4/13004 0/8600 4/4404
?/? c.1092G>A r.(=) p.(=) g.103986255C>T Copied from the Exome Variant Server CKB_000005 7592/13002 5418/8598 2174/4404
?/? c.1113G>A r.(=) p.(=) g.103986234C>T Copied from the Exome Variant Server CKB_000004 7/13002 0/8600 7/4402
?/? c.1137C>T r.(=) p.(=) g.103986210G>A Copied from the Exome Variant Server CKB_000003 3/13004 3/8600 0/4404
?/? c.*27C>T r.(=) p.(=) g.103986174G>A Copied from the Exome Variant Server CKB_000002 1/13002 0/8596 1/4406
?/? c.*46T>A r.(=) p.(=) g.103986155A>T Copied from the Exome Variant Server CKB_000001 7/12996 7/8592 0/4404
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