TBK1 mutations

 Mutation (NM_013254.3)Predicted protein changeMutation alias
Exon 2c.4C>Tp.Q2XQ2X
Exon 2c.86delAp.K29RfsX15K29fs
Exon 3c.176dupTp.L59FfsX16L59fs
Intron 3c.228+1G>Ap.K30_E76delK30_E76del
Exon 4c.236_238delCAAp.T79delT79del
Exon 4c.253_255delATTp.I85delI85del
Exon 4c.288delTp.V97FfsX2V97fs
Exon 4c.349C>Tp.R117XR117X
Intron 4c.358+2T>Cp.T77WfsX4T77fs
Exon 5c.379C>Tp.R127XR127X
Exon 5c.467_468delCAp.T156RfsX6T156fs
Exon 5c.499_501delGATp.D167delD167del
Intron 5c.540+1G>Ap.V120AfsX3V120fs
Exon 6c.555T>Ap.Y185XY185X
Exon 6c.583C>Tp.Q195XQ195X
Exon 6c.621dupTp.G208WfsX15G208fs
Exon 6c.684dupTp.R229XR229X
Exon 7c.762_763delTGp.N254KfsX4N254fs
Exon 7c.790_791insACAGp.P264HfsX24P264fs
Exon 8c.830delTp.T278PfsX33T278fs
Exon 8c.834_841delCCCCTGTTp.P279CfsX5P279fs
Exon 8c.958delAp.T320QfsX40T320fs
Intron 8c.992+1G>Ap.G272_T331delG272_T331del (G>A)
Intron 8c.992+1G>Tp.G272_T331delG272_T331del (G>T)
Exon 9c.1069C>Tp.R357XR357X
Exon 10c.1192delTp.S398PfsX11S398fs
Exon 10c.1199delCp.P400LfsX9P400fs
Exon 11c.1267_1268delTGp.C423LfsX25C423fs
Exon 11c.1318C>Tp.R440XR440X
Exon 11c.1330C>Tp.R444XR444X
Exon 11c.1335G>A p.W445XW445X
Exon 11c.1340+1G>Ap.A417XA417X
Exon 12c.1349_1352delTTAAp.I450KfsX15I450fs
Exon 12c.1385_1388CAGAp.T462KfsX3T462fs
Exon 12c.1387_1388delGAp.E463SfsX13E463fs
Exon 12c.1414delAp.I472SfsX8I472fs
Exon 12c.1432delAp.T478LfsX2T478fs
Exon 12c.1436_1437delTGp.V479EfsX4V479fs
Exon 13c.1445_1446delATp.Y482XY482X (1445_1446del)
Exon 13c.1446T>Gp.Y482XY482X (1446T>G)
Exon 13c.1496C>Gp.S499XS499X
Exon 13c.1501_1502insAAp.I501KfsX7I501fs
Exon 14c.1551_1552insTTp.S518LfsX32S518fs
Intron 14c.1644-1G>Ap.N548KfsX5N548fs
Exon 15c.1653_1654insAp.L552TfsX23L552fs
Intron 15c.1760+1G>Cp.R574SfsX11R574fs
Exon 17c.1838T>Ap.L613XL613X
Exon 17c.1852_1854delGAAp.E618delE618del
Exon 18c.1869_1875delGCTTCATp.M623IfsX9M623fs
Exon 18c.1887_1890delGTTAp.Q629HfsX4Q629fs
Exon 18c.1928_1930delAAGp.E643delE643del
Intron 18c.1959+1_1959+2dupGTIVS18+1_+2dup
Intron 18c.1960-2A>Gp.L654VfsX18L654fs
Exon 19c.1963C>Tp.Q655XQ655X
Exon 19c.2040dupTp.N681XN681X
Exon 19c.2048T>Gp.L683XL683X
Exon 19c.2063_2064delTTp.L688RfsX14L688fs
Exon 20c.2070delGp.M690IfsX4M690fs
Exon 20c.2099_2100delTGp.V700GfsX2V700fs
Exon 20c.2107G>Tp.E703XE703X
Exon 20c.2115_2127delCTGAAAATAACCAp.E706FfsX2E706fs
Intron 20c.2138+2T>Cp.M690_R713delM690_R713del