All transcript variants in gene CASP10

Information The variants shown are described using the NM_032977.3 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-7-17C>T r.(=) p.(=) g.202050477C>T Copied from the Exome Variant Server CASP10_000001 17/13004 0/8598 17/4406
?/? c.62G>A r.(?) p.(Arg21His) g.202050562G>A Copied from the Exome Variant Server CASP10_000002 4/13006 4/8600 0/4406
?/? c.174C>T r.(=) p.(=) g.202050674C>T Copied from the Exome Variant Server CASP10_000003 4/13006 4/8600 0/4406
?/? c.177A>G r.(=) p.(=) g.202050677A>G Copied from the Exome Variant Server CASP10_000004 6635/13006 4481/8600 2154/4406
?/? c.226C>A r.(?) p.(Pro76Thr) g.202050726C>A Copied from the Exome Variant Server CASP10_000005 1/13006 1/8600 0/4406
?/? c.271C>T r.(=) p.(=) g.202050771C>T Copied from the Exome Variant Server CASP10_000006 2/13006 0/8600 2/4406
?/? c.282C>T r.(=) p.(=) g.202050782C>T Copied from the Exome Variant Server CASP10_000007 2/13006 0/8600 2/4406
?/? c.347+8C>T r.(=) p.(=) g.202050855C>T Copied from the Exome Variant Server CASP10_000008 7/12970 3/8590 4/4380
?/? c.347+9G>T r.(=) p.(=) g.202050856G>T Copied from the Exome Variant Server CASP10_000009 904/12972 4/8590 900/4382
?/? c.347+10G>T r.(=) p.(=) g.202050857G>T Copied from the Exome Variant Server CASP10_000010 3/12972 2/8590 1/4382
?/? c.347+24A>G r.(=) p.(=) g.202050871A>G Copied from the Exome Variant Server CASP10_000011 13/12924 0/8566 13/4358
?/? c.347+34C>A r.(=) p.(=) g.202050881C>A Copied from the Exome Variant Server CASP10_000012 1/12906 1/8558 0/4348
?/? c.348-43A>G r.(=) p.(=) g.202052386A>G Copied from the Exome Variant Server CASP10_000014 8/13006 0/8600 8/4406
?/? c.348-31_348-30insTA r.(=) p.(=) g.202052398_202052399insTA Copied from the Exome Variant Server CASP10_000016 1/12520 1/8254 0/4266
?/? c.348-24T>A r.(=) p.(=) g.202052405T>A Copied from the Exome Variant Server CASP10_000018 1/13006 1/8600 0/4406
?/? c.441+16A>G r.(=) p.(=) g.202052538A>G Copied from the Exome Variant Server CASP10_000020 1/13006 1/8600 0/4406
?/? c.442-38A>G r.(=) p.(=) g.202057669A>G Copied from the Exome Variant Server CASP10_000022 1/13006 1/8600 0/4406
?/? c.502A>G r.(?) p.(Thr168Ala) g.202057767A>G Copied from the Exome Variant Server CASP10_000024 1/13006 1/8600 0/4406
?/? c.534A>C r.(=) p.(=) g.202057799A>C Copied from the Exome Variant Server CASP10_000026 38/13006 1/8600 37/4406
?/? c.553A>G r.(?) p.(Ile185Val) g.202057818A>G Copied from the Exome Variant Server CASP10_000027 1/13006 0/8600 1/4406
?/? c.577+7A>G r.(=) p.(=) g.202057849A>G Copied from the Exome Variant Server CASP10_000030 1/13006 1/8600 0/4406
?/? c.577+29C>A r.(=) p.(=) g.202057871C>A Copied from the Exome Variant Server CASP10_000033 1/13006 0/8600 1/4406
?/? c.578-48C>T r.(=) p.(=) g.202060517C>T Copied from the Exome Variant Server CASP10_000013 1/13006 1/8600 0/4406
?/? c.578-40A>T r.(=) p.(=) g.202060525A>T Copied from the Exome Variant Server CASP10_000015 1/13006 1/8600 0/4406
?/? c.578-25T>C r.(=) p.(=) g.202060540T>C Copied from the Exome Variant Server CASP10_000017 1/13006 0/8600 1/4406
?/? c.615C>T r.(=) p.(=) g.202060602C>T Copied from the Exome Variant Server CASP10_000019 1/13006 0/8600 1/4406
?/? c.682C>T r.(?) p.(Pro228Ser) g.202060669C>T Copied from the Exome Variant Server CASP10_000021 1/13006 0/8600 1/4406
?/? c.683C>T r.(?) p.(Pro228Leu) g.202060670C>T Copied from the Exome Variant Server CASP10_000023 3/13006 3/8600 0/4406
?/? c.684G>A r.(=) p.(=) g.202060671G>A Copied from the Exome Variant Server CASP10_000025 1/13006 1/8600 0/4406
?/? c.684+1G>A r.spl? p.? g.202060672G>A Copied from the Exome Variant Server CASP10_000028 1/13006 0/8600 1/4406
?/? c.684+4G>T r.spl? p.? g.202060675G>T Copied from the Exome Variant Server CASP10_000029 1/13006 1/8600 0/4406
?/? c.684+29T>C r.(=) p.(=) g.202060700T>C Copied from the Exome Variant Server CASP10_000031 15/13006 7/8600 8/4406
?/? c.684+37C>T r.(=) p.(=) g.202060708C>T Copied from the Exome Variant Server CASP10_000034 1/13006 1/8600 0/4406
?/? c.685-3288G>A r.(=) p.(=) g.202065165G>A Copied from the Exome Variant Server CASP10_000036 2/5734 0/3982 2/1752
?/? c.685-3267A>G r.(=) p.(=) g.202065186A>G Copied from the Exome Variant Server CASP10_000038 1/5734 0/3982 1/1752
?/? c.685-3197G>A r.(=) p.(=) g.202065256G>A Copied from the Exome Variant Server CASP10_000040 5/5734 4/3982 1/1752
?/? c.685-55T>C r.(=) p.(=) g.202068398T>C Copied from the Exome Variant Server CASP10_000042 1/4566 0/3182 1/1384
?/? c.685-50_685-47del r.(=) p.(=) g.202068403_202068406del Copied from the Exome Variant Server CASP10_000044 5/12520 3/8254 2/4266
?/? c.685-20C>T r.(=) p.(=) g.202068433C>T Copied from the Exome Variant Server CASP10_000046 422/13006 292/8600 130/4406
?/? c.685-12C>G r.(=) p.(=) g.202068441C>G Copied from the Exome Variant Server CASP10_000049 1/13006 0/8600 1/4406
?/? c.715A>T r.(?) p.(Ser239Cys) g.202068483A>T Copied from the Exome Variant Server CASP10_000051 4/13006 4/8600 0/4406
?/? c.721+83G>A r.(=) p.(=) g.202068572G>A Copied from the Exome Variant Server CASP10_000053 15/4566 0/3182 15/1384
?/? c.722-54A>C r.(=) p.(=) g.202070551A>C Copied from the Exome Variant Server CASP10_000055 3/4566 2/3182 1/1384
?/? c.722-40T>A r.(=) p.(=) g.202070565T>A Copied from the Exome Variant Server CASP10_000057 1/13006 1/8600 0/4406
?/? c.722-16G>T r.(=) p.(=) g.202070589G>T Copied from the Exome Variant Server CASP10_000059 86/13006 0/8600 86/4406
?/? c.722G>C r.(?) p.(Gly241Ala) g.202070605G>C Copied from the Exome Variant Server CASP10_000060 1/13006 1/8600 0/4406
?/? c.729A>G r.(=) p.(=) g.202070612A>G Copied from the Exome Variant Server CASP10_000063 1/13006 1/8600 0/4406
?/? c.786C>G r.(?) p.(Asn262Lys) g.202070669C>G Copied from the Exome Variant Server CASP10_000032 1/13006 1/8600 0/4406
?/? c.797C>T r.(?) p.(Ser266Phe) g.202070680C>T Copied from the Exome Variant Server CASP10_000035 1/13006 0/8600 1/4406
?/? c.813+22C>T r.(=) p.(=) g.202070718C>T Copied from the Exome Variant Server CASP10_000037 35/13004 18/8600 17/4404
?/? c.813+33del r.(=) p.(=) g.202070729del Copied from the Exome Variant Server CASP10_000039 6397/12484 3831/8242 2566/4242
?/? c.813+39A>T r.(=) p.(=) g.202070735A>T Copied from the Exome Variant Server CASP10_000041 6971/12982 4091/8590 2880/4392
?/? c.814-45C>G r.(=) p.(=) g.202072753C>G Copied from the Exome Variant Server CASP10_000043 2/13006 2/8600 0/4406
?/? c.846C>G r.(?) p.(His282Gln) g.202072830C>G Copied from the Exome Variant Server CASP10_000045 1/13006 0/8600 1/4406
?/? c.853C>T r.(?) p.(Leu285Phe) g.202072837C>T Copied from the Exome Variant Server CASP10_000047 1/13006 0/8600 1/4406
?/? c.879C>A r.(?) p.(Ser293Arg) g.202072863C>A Copied from the Exome Variant Server CASP10_000048 1/13006 1/8600 0/4406
?/? c.887C>T r.(?) p.(Ser296Phe) g.202072871C>T Copied from the Exome Variant Server CASP10_000050 1/13006 1/8600 0/4406
?/? c.913A>G r.(?) p.(Lys305Glu) g.202072897A>G Copied from the Exome Variant Server CASP10_000052 3/13006 3/8600 0/4406
?/? c.922+23A>G r.(=) p.(=) g.202072929A>G Copied from the Exome Variant Server CASP10_000054 2/13006 2/8600 0/4406
?/? c.923-51T>A r.(=) p.(=) g.202073742T>A Copied from the Exome Variant Server CASP10_000056 18/12834 0/8568 18/4266
?/? c.923-3C>T r.spl? p.? g.202073790C>T Copied from the Exome Variant Server CASP10_000058 905/13002 3/8600 902/4402
?/? c.930G>T r.(=) p.(=) g.202073800G>T Copied from the Exome Variant Server CASP10_000061 4/13006 4/8600 0/4406
?/? c.953G>A r.(?) p.(Gly318Glu) g.202073823G>A Copied from the Exome Variant Server CASP10_000062 4/13006 4/8600 0/4406
?/? c.1068G>T r.(=) p.(=) g.202073938G>T Copied from the Exome Variant Server CASP10_000064 68/13006 1/8600 67/4406
?/? c.1086A>G r.(=) p.(=) g.202073956A>G Copied from the Exome Variant Server CASP10_000065 1/13006 1/8600 0/4406
?/? c.1089T>C r.(=) p.(=) g.202073959T>C Copied from the Exome Variant Server CASP10_000066 1/13006 0/8600 1/4406
?/? c.1093del r.(?) p.(Tyr365Thrfs*53) g.202073963del Copied from the Exome Variant Server CASP10_000067 2/12520 2/8254 0/4266
?/? c.1117C>T r.(?) p.(Pro373Ser) g.202073987C>T Copied from the Exome Variant Server CASP10_000068 1/13006 1/8600 0/4406
?/? c.1124G>A r.(?) p.(Arg375Gln) g.202073994G>A Copied from the Exome Variant Server CASP10_000069 1/13006 1/8600 0/4406
?/? c.1132A>T r.(?) p.(Met378Leu) g.202074002A>T Copied from the Exome Variant Server CASP10_000070 1/13006 1/8600 0/4406
?/? c.1202_1208del r.(?) p.(Cys401Leufs*15) g.202074072_202074078del Copied from the Exome Variant Server CASP10_000071 4/12520 3/8254 1/4266
?/? c.1216A>T r.(?) p.(Ile406Leu) g.202074086A>T Copied from the Exome Variant Server CASP10_000072 34/13006 31/8600 3/4406
?/? c.1227C>T r.(=) p.(=) g.202074097C>T Copied from the Exome Variant Server CASP10_000073 1/13006 1/8600 0/4406
?/? c.1228G>A r.(?) p.(Val410Ile) g.202074098G>A Copied from the Exome Variant Server CASP10_000074 637/13006 567/8600 70/4406
?/? c.1254C>T r.(=) p.(=) g.202074124C>T Copied from the Exome Variant Server CASP10_000075 1/13006 1/8600 0/4406
?/? c.1267C>T r.(?) p.(Pro423Ser) g.202074137C>T Copied from the Exome Variant Server CASP10_000076 2/13006 1/8600 1/4406
?/? c.1296C>T r.(=) p.(=) g.202074166C>T Copied from the Exome Variant Server CASP10_000077 42/13006 0/8600 42/4406
?/? c.1297G>A r.(?) p.(Glu433Lys) g.202074167G>A Copied from the Exome Variant Server CASP10_000078 1/13006 1/8600 0/4406
?/? c.1337A>G r.(?) p.(Tyr446Cys) g.202074207A>G Copied from the Exome Variant Server CASP10_000079 353/13006 322/8600 31/4406
?/? c.1347T>C r.(=) p.(=) g.202074217T>C Copied from the Exome Variant Server CASP10_000080 4/13006 3/8600 1/4406
?/? c.1350G>T r.(=) p.(=) g.202074220G>T Copied from the Exome Variant Server CASP10_000081 1/13006 1/8600 0/4406
?/? c.1415+8C>G r.(=) p.(=) g.202074293C>G Copied from the Exome Variant Server CASP10_000082 4/12964 3/8572 1/4392
?/? c.1415+16T>C r.(=) p.(=) g.202074301T>C Copied from the Exome Variant Server CASP10_000083 8/12870 0/8520 8/4350
?/? c.1415+18T>A r.(=) p.(=) g.202074303T>A Copied from the Exome Variant Server CASP10_000084 19/12854 16/8510 3/4344
?/? c.1416-50G>A r.(=) p.(=) g.202082261G>A Copied from the Exome Variant Server CASP10_000085 39/13006 39/8600 0/4406
?/? c.1416-33_1416-32insA r.(=) p.(=) g.202082278_202082279insA Copied from the Exome Variant Server CASP10_000086 6/12520 1/8254 5/4266
?/? c.1416-24A>T r.(=) p.(=) g.202082287A>T Copied from the Exome Variant Server CASP10_000087 28/13006 0/8600 28/4406
?/? c.1416-4G>C r.spl? p.? g.202082307G>C Copied from the Exome Variant Server CASP10_000088 1/13006 0/8600 1/4406
?/? c.1452C>T r.(=) p.(=) g.202082347C>T Copied from the Exome Variant Server CASP10_000089 1/13006 0/8600 1/4406
?/? c.1459G>T r.(?) p.(Val487Leu) g.202082354G>T Copied from the Exome Variant Server CASP10_000090 1/13006 1/8600 0/4406
?/? c.1477A>C r.(?) p.(Lys493Gln) g.202082372A>C Copied from the Exome Variant Server CASP10_000091 1/13006 1/8600 0/4406
?/? c.1502C>T r.(?) p.(Pro501Leu) g.202082397C>T Copied from the Exome Variant Server CASP10_000092 4/13006 4/8600 0/4406
?/? c.1537T>C r.(?) p.(Phe513Leu) g.202082432T>C Copied from the Exome Variant Server CASP10_000093 5/13006 5/8600 0/4406
?/? c.1564T>A r.(?) p.(Leu522Ile) g.202082459T>A Copied from the Exome Variant Server CASP10_000094 5758/13006 4211/8600 1547/4406
?/? c.*12T>C r.(=) p.(=) g.202082476T>C Copied from the Exome Variant Server CASP10_000095 3/13006 0/8600 3/4406
?/? c.*34G>A r.(=) p.(=) g.202082498G>A Copied from the Exome Variant Server CASP10_000096 1/13006 1/8600 0/4406
Legend