All transcript variants in gene EIF3E

Information The variants shown are described using the NM_001568.2 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.-21G>A r.(=) p.(=) g.109260952C>T Copied from the Exome Variant Server EIF3E_000070 1/13006 1/8600 0/4406
?/? c.28A>G r.(?) p.(Ile10Val) g.109260904T>C Copied from the Exome Variant Server EIF3E_000069 1/13006 0/8600 1/4406
?/? c.46C>T r.(?) p.(Arg16Trp) g.109260886G>A Copied from the Exome Variant Server EIF3E_000068 1/13006 1/8600 0/4406
?/? c.90+24G>A r.(=) p.(=) g.109260818C>T Copied from the Exome Variant Server EIF3E_000067 1/13006 0/8600 1/4406
?/? c.90+32G>C r.(=) p.(=) g.109260810C>G Copied from the Exome Variant Server EIF3E_000066 4/13006 2/8600 2/4406
?/? c.90+42G>A r.(=) p.(=) g.109260800C>T Copied from the Exome Variant Server EIF3E_000065 5/13006 5/8600 0/4406
?/? c.90+44G>A r.(=) p.(=) g.109260798C>T Copied from the Exome Variant Server EIF3E_000064 27/13006 0/8600 27/4406
?/? c.127G>A r.(?) p.(Asp43Asn) g.109254106C>T Copied from the Exome Variant Server EIF3E_000063 1/13000 0/8594 1/4406
?/? c.171A>G r.(=) p.(=) g.109254062T>C Copied from the Exome Variant Server EIF3E_000062 7/13002 3/8596 4/4406
?/? c.205+25A>G r.(=) p.(=) g.109254003T>C Copied from the Exome Variant Server EIF3E_000061 7533/12990 4952/8584 2581/4406
?/? c.206-42A>G r.(=) p.(=) g.109252346T>C Copied from the Exome Variant Server EIF3E_000060 1/13004 1/8598 0/4406
?/? c.206-30A>G r.(=) p.(=) g.109252334T>C Copied from the Exome Variant Server EIF3E_000059 1/13004 1/8600 0/4404
?/? c.206-18T>C r.(=) p.(=) g.109252322A>G Copied from the Exome Variant Server EIF3E_000058 1/13004 0/8600 1/4404
?/? c.206-16C>T r.(=) p.(=) g.109252320G>A Copied from the Exome Variant Server EIF3E_000056 1/13006 1/8600 0/4406
?/? c.241C>T r.(=) p.(=) g.109252269G>A Copied from the Exome Variant Server EIF3E_000054 1/13006 1/8600 0/4406
?/? c.281T>C r.(?) p.(Met94Thr) g.109252229A>G Copied from the Exome Variant Server EIF3E_000052 1/13006 1/8600 0/4406
?/? c.323+49A>G r.(=) p.(=) g.109252138T>C Copied from the Exome Variant Server EIF3E_000049 1/13004 0/8598 1/4406
?/? c.324-10del r.(=) p.(=) g.109248442del Copied from the Exome Variant Server EIF3E_000048 3/12454 1/8214 2/4240
?/? c.348C>T r.(=) p.(=) g.109248408G>A Copied from the Exome Variant Server EIF3E_000071 1/13000 1/8596 0/4404
?/? c.354G>A r.(=) p.(=) g.109248402C>T Copied from the Exome Variant Server EIF3E_000044 1/13000 1/8596 0/4404
?/? c.366+19T>A r.(=) p.(=) g.109248371A>T Copied from the Exome Variant Server EIF3E_000042 8/12988 8/8588 0/4400
?/? c.366+32A>G r.(=) p.(=) g.109248358T>C Copied from the Exome Variant Server EIF3E_000057 10/12982 0/8588 10/4394
?/? c.367-35_367-31del r.(=) p.(=) g.109247362_109247366del Copied from the Exome Variant Server EIF3E_000055 1/12390 1/8160 0/4230
?/? c.367-9del r.(=) p.(=) g.109247340del Copied from the Exome Variant Server EIF3E_000053 185/12462 119/8208 66/4254
?/? c.367-9dup r.(=) p.(=) g.109247340dup Copied from the Exome Variant Server EIF3E_000051 127/12462 65/8208 62/4254
?/? c.393C>G r.(=) p.(=) g.109247305G>C Copied from the Exome Variant Server EIF3E_000050 1/12992 1/8586 0/4406
?/? c.405A>C r.(=) p.(=) g.109247293T>G Copied from the Exome Variant Server EIF3E_000047 1/12994 0/8588 1/4406
?/? c.417C>T r.(=) p.(=) g.109247281G>A Copied from the Exome Variant Server EIF3E_000046 22/12992 0/8586 22/4406
?/? c.432_435del r.(?) p.(Tyr144*) g.109247263_109247266del Copied from the Exome Variant Server EIF3E_000045 1/12506 1/8242 0/4264
?/? c.462del r.(?) p.(Phe154Leufs*13) g.109247236del Copied from the Exome Variant Server EIF3E_000043 18/12498 12/8234 6/4264
?/? c.471+27T>G r.(=) p.(=) g.109247200A>C Copied from the Exome Variant Server EIF3E_000041 3/12932 0/8546 3/4386
?/? c.472-26A>G r.(=) p.(=) g.109241450T>C Copied from the Exome Variant Server EIF3E_000040 1/12996 0/8594 1/4402
?/? c.564C>A r.(?) p.(Asp188Glu) g.109241332G>T Copied from the Exome Variant Server EIF3E_000039 1/13006 1/8600 0/4406
?/? c.587T>C r.(?) p.(Ile196Thr) g.109241309A>G Copied from the Exome Variant Server EIF3E_000038 1/13006 1/8600 0/4406
?/? c.597+19_597+20del r.(=) p.(=) g.109241279_109241280del Copied from the Exome Variant Server EIF3E_000037 36/12518 33/8254 3/4264
?/? c.597+34A>G r.(=) p.(=) g.109241265T>C Copied from the Exome Variant Server EIF3E_000036 1/13006 0/8600 1/4406
?/? c.598-19A>T r.(=) p.(=) g.109240639T>A Copied from the Exome Variant Server EIF3E_000035 2/12880 2/8554 0/4326
?/? c.598-5T>G r.spl? p.? g.109240625A>C Copied from the Exome Variant Server EIF3E_000034 1/13000 1/8598 0/4402
?/? c.722+23T>A r.(=) p.(=) g.109240473A>T Copied from the Exome Variant Server EIF3E_000033 483/13006 20/8600 463/4406
?/? c.849+9A>G r.(=) p.(=) g.109229554T>C Copied from the Exome Variant Server EIF3E_000032 88/12660 2/8400 86/4260
?/? c.849+15T>C r.(=) p.(=) g.109229548A>G Copied from the Exome Variant Server EIF3E_000030 181/12390 6/8218 175/4172
?/? c.849+16A>G r.(=) p.(=) g.109229547T>C Copied from the Exome Variant Server EIF3E_000028 1/12342 1/8186 0/4156
?/? c.952-48G>A r.(=) p.(=) g.109226993C>T Copied from the Exome Variant Server EIF3E_000026 1/13006 1/8600 0/4406
?/? c.952-14A>G r.(=) p.(=) g.109226959T>C Copied from the Exome Variant Server EIF3E_000024 139/13006 0/8600 139/4406
?/? c.952-5T>C r.spl? p.? g.109226950A>G Copied from the Exome Variant Server EIF3E_000022 25/13006 20/8600 5/4406
?/? c.981T>A r.(=) p.(=) g.109226916A>T Copied from the Exome Variant Server EIF3E_000020 1/13006 1/8600 0/4406
?/? c.1061+11C>T r.(=) p.(=) g.109226825G>A Copied from the Exome Variant Server EIF3E_000031 2/13006 1/8600 1/4406
?/? c.1061+12G>A r.(=) p.(=) g.109226824C>T Copied from the Exome Variant Server EIF3E_000029 2/13006 2/8600 0/4406
?/? c.1062-39C>T r.(=) p.(=) g.109215771G>A Copied from the Exome Variant Server EIF3E_000027 1/13002 0/8596 1/4406
?/? c.1062-35G>C r.(=) p.(=) g.109215767C>G Copied from the Exome Variant Server EIF3E_000025 2/12996 0/8590 2/4406
?/? c.1062-33T>G r.(=) p.(=) g.109215765A>C Copied from the Exome Variant Server EIF3E_000023 2/12996 2/8590 0/4406
?/? c.1133C>T r.(?) p.(Ala378Val) g.109215661G>A Copied from the Exome Variant Server EIF3E_000021 1/13004 0/8598 1/4406
?/? c.1164+14T>C r.(=) p.(=) g.109215616A>G Copied from the Exome Variant Server EIF3E_000019 1/13004 1/8598 0/4406
?/? c.1164+16G>C r.(=) p.(=) g.109215614C>G Copied from the Exome Variant Server EIF3E_000018 2/13004 1/8598 1/4406
?/? c.1165-22A>G r.(=) p.(=) g.109215368T>C Copied from the Exome Variant Server EIF3E_000017 6306/13006 3984/8600 2322/4406
?/? c.1165-12_1165-11del r.(=) p.(=) g.109215357_109215358del Copied from the Exome Variant Server EIF3E_000016 70/12516 1/8252 69/4264
?/? c.1173G>A r.(=) p.(=) g.109215338C>T Copied from the Exome Variant Server EIF3E_000015 5/13006 4/8600 1/4406
?/? c.1183A>G r.(?) p.(Asn395Asp) g.109215328T>C Copied from the Exome Variant Server EIF3E_000014 1/13006 0/8600 1/4406
?/? c.1236C>A r.(=) p.(=) g.109215275G>T Copied from the Exome Variant Server EIF3E_000013 1/13006 1/8600 0/4406
?/? c.1240A>C r.(=) p.(=) g.109215271T>G Copied from the Exome Variant Server EIF3E_000012 1/13006 1/8600 0/4406
?/? c.1299+18T>C r.(=) p.(=) g.109215194A>G Copied from the Exome Variant Server EIF3E_000011 1/13006 0/8600 1/4406
?/? c.1299+47T>C r.(=) p.(=) g.109215165A>G Copied from the Exome Variant Server EIF3E_000010 1/13006 1/8600 0/4406
?/? c.1300-48C>T r.(=) p.(=) g.109214200G>A Copied from the Exome Variant Server EIF3E_000009 6/12966 6/8576 0/4390
?/? c.1300-30A>C r.(=) p.(=) g.109214182T>G Copied from the Exome Variant Server EIF3E_000008 1/12982 0/8596 1/4386
?/? c.1300-29C>T r.(=) p.(=) g.109214181G>A Copied from the Exome Variant Server EIF3E_000007 1/12982 1/8596 0/4386
?/? c.1300-7A>G r.(=) p.(=) g.109214159T>C Copied from the Exome Variant Server EIF3E_000006 1/13002 1/8598 0/4404
?/? c.1300G>A r.(?) p.(Ala434Thr) g.109214152C>T Copied from the Exome Variant Server EIF3E_000005 1/13004 1/8598 0/4406
?/? c.1318C>T r.(?) p.(Gln440*) g.109214134G>A Copied from the Exome Variant Server EIF3E_000004 1/12998 1/8596 0/4402
?/? c.*18A>C r.(=) p.(=) g.109214096T>G Copied from the Exome Variant Server EIF3E_000003 128/12910 0/8552 128/4358
?/? c.*30del r.(=) p.(=) g.109214084del Copied from the Exome Variant Server EIF3E_000002 169/12302 91/8148 78/4154
?/? c.*30dup r.(=) p.(=) g.109214084dup Copied from the Exome Variant Server EIF3E_000001 295/12302 214/8148 81/4154
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