All transcript variants in gene CASP8

Information The variants shown are described using the NM_001228.4 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-26-8258T>C r.(=) p.(=) g.202122926T>C Copied from the Exome Variant Server CASP8_000001 23/11956 0/8224 23/3732
?/? c.-26-8228T>C r.(=) p.(=) g.202122956T>C Copied from the Exome Variant Server CASP8_000003 395/12046 361/8260 34/3786
?/? c.-26-8218C>G r.(=) p.(=) g.202122966C>G Copied from the Exome Variant Server CASP8_000005 1/12064 0/8254 1/3810
?/? c.-26-8196G>T r.(=) p.(=) g.202122988G>T Copied from the Exome Variant Server CASP8_000007 1/12120 0/8260 1/3860
?/? c.-26-8189A>G r.(=) p.(=) g.202122995A>G Copied from the Exome Variant Server CASP8_000009 8118/12126 5832/8262 2286/3864
?/? c.-26-8159C>A r.(=) p.(=) g.202123025C>A Copied from the Exome Variant Server CASP8_000011 1/12186 1/8274 0/3912
?/? c.-26-8157C>G r.(=) p.(=) g.202123027C>G Copied from the Exome Variant Server CASP8_000013 4/12188 0/8278 4/3910
?/? c.-26-8156C>G r.(=) p.(=) g.202123028C>G Copied from the Exome Variant Server CASP8_000015 2/12194 2/8282 0/3912
?/? c.-26-8140C>T r.(=) p.(=) g.202123044C>T Copied from the Exome Variant Server CASP8_000017 2/12226 0/8300 2/3926
?/? c.-26-8118G>A r.(=) p.(=) g.202123066G>A Copied from the Exome Variant Server CASP8_000019 1/12306 0/8314 1/3992
?/? c.-26-8113G>A r.(=) p.(=) g.202123071G>A Copied from the Exome Variant Server CASP8_000021 2/12316 2/8316 0/4000
?/? c.-26-8081C>T r.(=) p.(=) g.202123103C>T Copied from the Exome Variant Server CASP8_000023 1/12352 0/8342 1/4010
?/? c.-26-8076G>A r.(=) p.(=) g.202123108G>A Copied from the Exome Variant Server CASP8_000025 16/12362 15/8344 1/4018
?/? c.-26-8059G>A r.(=) p.(=) g.202123125G>A Copied from the Exome Variant Server CASP8_000027 1/12360 1/8338 0/4022
?/? c.-26-8034A>T r.(=) p.(=) g.202123150A>T Copied from the Exome Variant Server CASP8_000030 1/12232 1/8294 0/3938
?/? c.-26-16A>G r.(=) p.(=) g.202131168A>G Copied from the Exome Variant Server CASP8_000032 2/12944 0/8590 2/4354
?/? c.-12C>A r.(=) p.(=) g.202131198C>A Copied from the Exome Variant Server CASP8_000002 2/13000 1/8598 1/4402
?/? c.84C>T r.(=) p.(=) g.202131293C>T Copied from the Exome Variant Server CASP8_000004 1/13006 1/8600 0/4406
?/? c.99G>T r.(?) p.(Arg33Ser) g.202131308G>T Copied from the Exome Variant Server CASP8_000006 1/13006 0/8600 1/4406
?/? c.174T>C r.(=) p.(=) g.202131383T>C Copied from the Exome Variant Server CASP8_000008 2/13006 0/8600 2/4406
?/? c.262A>G r.(?) p.(Arg88Gly) g.202131471A>G Copied from the Exome Variant Server CASP8_000010 1/13006 1/8600 0/4406
?/? c.302A>G r.(?) p.(Tyr101Cys) g.202131511A>G Copied from the Exome Variant Server CASP8_000012 1/13006 1/8600 0/4406
?/? c.306-42_306-41insG r.(=) p.(=) g.202134191_202134192insG Copied from the Exome Variant Server CASP8_000014 3/11432 2/7856 1/3576
?/? c.306-27T>A r.(=) p.(=) g.202134206T>A Copied from the Exome Variant Server CASP8_000016 3/12008 0/8226 3/3782
?/? c.310C>G r.(?) p.(His104Asp) g.202134237C>G Copied from the Exome Variant Server CASP8_000018 1/12082 0/8258 1/3824
?/? c.315C>G r.(?) p.(Phe105Leu) g.202134242C>G Copied from the Exome Variant Server CASP8_000020 1/12090 0/8254 1/3836
?/? c.320G>A r.(?) p.(Arg107His) g.202134247G>A Copied from the Exome Variant Server CASP8_000022 2/12082 0/8254 2/3828
?/? c.322A>G r.(?) p.(Met108Val) g.202134249A>G Copied from the Exome Variant Server CASP8_000024 1/12080 1/8258 0/3822
?/? c.332C>A r.(?) p.(Ala111Asp) g.202134259C>A Copied from the Exome Variant Server CASP8_000026 1/12074 1/8256 0/3818
?/? c.394T>C r.(=) p.(=) g.202134321T>C Copied from the Exome Variant Server CASP8_000028 40/11882 0/8178 40/3704
?/? c.401+1G>A r.spl? p.? g.202134329G>A Copied from the Exome Variant Server CASP8_000029 1/11876 1/8178 0/3698
?/? c.402-32G>T r.(=) p.(=) g.202136207G>T Copied from the Exome Variant Server CASP8_000031 1/13006 0/8600 1/4406
?/? c.402-16C>G r.(=) p.(=) g.202136223C>G Copied from the Exome Variant Server CASP8_000033 1/13006 0/8600 1/4406
?/? c.402-2A>C r.spl? p.? g.202136237A>C Copied from the Exome Variant Server CASP8_000034 1/13006 1/8600 0/4406
?/? c.435C>T r.(=) p.(=) g.202136272C>T Copied from the Exome Variant Server CASP8_000035 39/13006 35/8600 4/4406
?/? c.483C>T r.(=) p.(=) g.202136320C>T Copied from the Exome Variant Server CASP8_000036 2/13006 0/8600 2/4406
?/? c.495G>A r.(=) p.(=) g.202136332G>A Copied from the Exome Variant Server CASP8_000037 2/13006 2/8600 0/4406
?/? c.507+37A>C r.(=) p.(=) g.202136381A>C Copied from the Exome Variant Server CASP8_000038 1/13006 0/8600 1/4406
?/? c.527T>C r.(?) p.(Ile176Thr) g.202137380T>C Copied from the Exome Variant Server CASP8_000039 1/13006 0/8600 1/4406
?/? c.528A>G r.(?) p.(Ile176Met) g.202137381A>G Copied from the Exome Variant Server CASP8_000040 6/13006 6/8600 0/4406
?/? c.539A>G r.(?) p.(Lys180Arg) g.202137392A>G Copied from the Exome Variant Server CASP8_000041 7/13006 6/8600 1/4406
?/? c.548T>C r.(?) p.(Ile183Thr) g.202137401T>C Copied from the Exome Variant Server CASP8_000042 1/13006 1/8600 0/4406
?/? c.618_621del r.(?) p.(Ile207Thrfs*15) g.202137471_202137474del Copied from the Exome Variant Server CASP8_000043 3/12520 3/8254 0/4266
?/? c.646+20C>T r.(=) p.(=) g.202137519C>T Copied from the Exome Variant Server CASP8_000044 1/13004 1/8600 0/4404
?/? c.646+63G>A r.(=) p.(=) g.202137562G>A Copied from the Exome Variant Server CASP8_000045 2/4566 2/3182 0/1384
?/? c.646+124A>C r.(=) p.(=) g.202137623A>C Copied from the Exome Variant Server CASP8_000046 22/13006 0/8600 22/4406
?/? c.646+127A>C r.(=) p.(=) g.202137626A>C Copied from the Exome Variant Server CASP8_000047 2/13006 1/8600 1/4406
?/? c.646+166G>A r.(=) p.(=) g.202137665G>A Copied from the Exome Variant Server CASP8_000048 2/13006 0/8600 2/4406
?/? c.646+169A>G r.(=) p.(=) g.202137668A>G Copied from the Exome Variant Server CASP8_000049 6/13006 0/8600 6/4406
?/? c.646+209A>C r.(=) p.(=) g.202137708A>C Copied from the Exome Variant Server CASP8_000050 1/13000 1/8598 0/4402
?/? c.647-64T>C r.(=) p.(=) g.202139548T>C Copied from the Exome Variant Server CASP8_000051 3/4566 0/3182 3/1384
?/? c.647-42C>T r.(=) p.(=) g.202139570C>T Copied from the Exome Variant Server CASP8_000052 1/13006 1/8600 0/4406
?/? c.647-38C>T r.(=) p.(=) g.202139574C>T Copied from the Exome Variant Server CASP8_000053 5/13006 0/8600 5/4406
?/? c.647-11G>T r.(=) p.(=) g.202139601G>T Copied from the Exome Variant Server CASP8_000054 1/13006 1/8600 0/4406
?/? c.691G>T r.(?) p.(Glu231*) g.202139656G>T Copied from the Exome Variant Server CASP8_000055 1/13006 0/8600 1/4406
?/? c.706T>A r.(?) p.(Ser236Thr) g.202139671T>A Copied from the Exome Variant Server CASP8_000057 29/13006 0/8600 29/4406
?/? c.711+6C>T r.(=) p.(=) g.202139682C>T Copied from the Exome Variant Server CASP8_000059 1/13006 0/8600 1/4406
?/? c.711+41T>G r.(=) p.(=) g.202139717T>G Copied from the Exome Variant Server CASP8_000061 1/13006 0/8600 1/4406
?/? c.730C>G r.(?) p.(Gln244Glu) g.202141568C>G Copied from the Exome Variant Server CASP8_000063 1/13006 1/8600 0/4406
?/? c.853+23A>G r.(=) p.(=) g.202141714A>G Copied from the Exome Variant Server CASP8_000065 1/13006 0/8600 1/4406
?/? c.854-32T>C r.(=) p.(=) g.202149507T>C Copied from the Exome Variant Server CASP8_000067 1/13002 1/8598 0/4404
?/? c.854-26G>A r.(=) p.(=) g.202149513G>A Copied from the Exome Variant Server CASP8_000069 2/13002 2/8598 0/4404
?/? c.866C>T r.(?) p.(Thr289Met) g.202149551C>T Copied from the Exome Variant Server CASP8_000071 1/13006 0/8600 1/4406
?/? c.903C>T r.(=) p.(=) g.202149588C>T Copied from the Exome Variant Server CASP8_000073 1/13006 1/8600 0/4406
?/? c.904G>C r.(?) p.(Asp302His) g.202149589G>C Copied from the Exome Variant Server CASP8_000075 1427/13006 1111/8600 316/4406
?/? c.943A>G r.(?) p.(Ile315Val) g.202149628A>G Copied from the Exome Variant Server CASP8_000077 9/13006 9/8600 0/4406
?/? c.963C>T r.(=) p.(=) g.202149648C>T Copied from the Exome Variant Server CASP8_000056 1/13006 1/8600 0/4406
?/? c.970A>G r.(?) p.(Met324Val) g.202149655A>G Copied from the Exome Variant Server CASP8_000058 2/13006 2/8600 0/4406
?/? c.1011G>A r.(=) p.(=) g.202149696G>A Copied from the Exome Variant Server CASP8_000060 1381/13006 439/8600 942/4406
?/? c.1023T>C r.(=) p.(=) g.202149708T>C Copied from the Exome Variant Server CASP8_000062 1/13006 1/8600 0/4406
?/? c.1032T>C r.(=) p.(=) g.202149717T>C Copied from the Exome Variant Server CASP8_000064 2/13006 0/8600 2/4406
?/? c.1137G>C r.(=) p.(=) g.202149822G>C Copied from the Exome Variant Server CASP8_000066 1/13006 0/8600 1/4406
?/? c.1188C>T r.(=) p.(=) g.202149873C>T Copied from the Exome Variant Server CASP8_000068 1/13006 1/8600 0/4406
?/? c.1220C>T r.(?) p.(Thr407Met) g.202149905C>T Copied from the Exome Variant Server CASP8_000070 1/13006 1/8600 0/4406
?/? c.1235A>T r.(?) p.(Asp412Val) g.202149920A>T Copied from the Exome Variant Server CASP8_000072 1/13006 0/8600 1/4406
?/? c.1355+12C>T r.(=) p.(=) g.202150052C>T Copied from the Exome Variant Server CASP8_000074 14/13006 14/8600 0/4406
?/? c.1355+15C>T r.(=) p.(=) g.202150055C>T Copied from the Exome Variant Server CASP8_000076 1/13006 1/8600 0/4406
?/? c.1355+46C>T r.(=) p.(=) g.202150086C>T Copied from the Exome Variant Server CASP8_000078 1/13004 1/8598 0/4406
?/? c.1355+49C>T r.(=) p.(=) g.202150089C>T Copied from the Exome Variant Server CASP8_000079 86/13004 80/8598 6/4406
?/? c.1356-42T>G r.(=) p.(=) g.202151140T>G Copied from the Exome Variant Server CASP8_000080 1402/13006 1110/8600 292/4406
?/? c.1356-19A>G r.(=) p.(=) g.202151163A>G Copied from the Exome Variant Server CASP8_000081 9662/13006 6174/8600 3488/4406
?/? c.*13_*14insTTTGT r.(=) p.(=) g.202151330_202151331insTTTGT Copied from the Exome Variant Server CASP8_000082 46/12520 10/8254 36/4266
?/? c.*16_*17del r.(=) p.(=) g.202151333_202151334del Copied from the Exome Variant Server CASP8_000083 1/12520 1/8254 0/4266
?/? c.*32_*33insT r.(=) p.(=) g.202151349_202151350insT Copied from the Exome Variant Server CASP8_000084 7/12520 5/8254 2/4266
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