GRN mutations

 Mutation (NM_002087.2)Predicted protein changeMutation alias
Complete genedelGRN[DR184]
Intron 1c.-8+2T>GIVS1+2T>G
Intron 1c.-8+3A>TIVS1+3A>T
Intron 1c.-8+5G>CIVS1+5G>C
Intron 1-12delGRN[London]
Intron 1-12delGRN[French]
Intron 1-12delGRN[Tubingen]
Exon 1delGRN[exon 1]
Exon 2c.1A>Gp.M1M1 (1A>G)
Exon 2c.1A>Tp.M1M1 (1A>T)
Exon 2c.2T>Cp.M1M1 (2T>C)
Exon 2c.3G>Ap.M1M1 (3G>A)
Exon 2c.6G>Ap.W2XW2X
Exon 2c.19T>Cp.W7RW7R
Exon 2c.26C>Ap.A9DA9D
Exon 2c.29T>Cp.L10SL10S
Exon 2c.58dupp.C20LfsX45C20fs
Exon 2c.63_64insCp.D22RfsX43D22fs
Exon 2c.70C>Tp.Q24XQ24X
Exon 2c.78C>Ap.C26XC26X
Exon 2c.80dupp.V28CfsX37V28fs
Exon 2c.87dupp.C30LfsX35C30fs
Exon 2c.87_90dupp.C31LfsX35C31fs
Exon 2c.102delp.G35EfsX19G35fs
Exon 2c.117dupp.S40QfsX25S40fs
Intron 2c.138+1G>AIVS2+1G>A
Intron 2c.139-4C>TIVS2-4C>T
Intron 2c.139delp.D47TfsX7D47fs
Exon 3c.146G>Ap.W49XW49X
Exon 3c.154delp.T52HfsX2T52fs
Exon 3c.232dupp.S78FfsX41S78fs
Exon 3c.234_235delp.G79DfsX39G79fs
Exon 3c.243delp.S82VfsX174S82fs
Exon 3c.255delp.F86SfsX170F86fs
Exon 3c.264G>AEX3_ENDG>A
Intron 3c.264+1G>AIVS3+1G>A
Intron 3c.264+2T>CIVS3+2T>C
Intron 3c.265-7T>GIVS3-7T>G
Intron 3c.265-2delIVS3-2del
Exon 4c.280delp.D94MfsX162D94fs
Exon 4c.295_308delp.Cys99fsX15C99fs
Exon 4c.299delp.P100HfsX156P100fs
Exon 4c.314dupp.C105WfsX14C105fs
Exon 4c.328C>Tp.R110XR110X
Exon 4c.347C>Ap.S116XS116X
Exon 4c.349G>AEX4_ENDG>A
Intron 4c.349+1G>AIVS4+1G>A
Intron 4c.349+1G>CIVS4+1G>C
Intron 4c.350-1G>TIVS4-1G>T
Exon 5c.350_462delp.N118FfsX4N118fs
Exon 5c.361delp.V121WfsX135V121fs
Exon 5c.373C>Tp.Q125XQ125X
Exon 5c.378C>Ap.C126XC126X
Exon 5c.380_381delp.P127RfsX2P127fs
Exon 5c.384_387delp.Q130SfsX125Q130fs (384_387del)
Exon 5c.385dupp.S129KfsX?S129fs
Exon 5c.388C>Tp.Q130XQ130X
Exon 5c.388_391delp.Q130SfsX125Q130fs (388_391del)
Exon 5c.421_422delp.V141YfsX18V141fs
Exon 5c.443_444delp.G148VfsX11G148fs
Exon 5c.445_446delp.C149fsX10C149fs
Exon 5c.460C>Tp.Q154XQ154X
Intron 5c.462+1G>CIVS5+1G>C
Intron 5c.463-1G>TIVS5-1G>T
Intron 5c.463_598delp.A155WfsX56A155fs
Exon 6c.468_474delp.C157KfsX97C157fs
Exon 6c.481_482delp.R161GfsX36R161fs
Exon 6c.472_496dupp.P166LfsX2P166fs
Exon 6c.512delp.C171SfsX85C171fs
Exon 6c.522_523insTGTGAAGACAGGGTGCACTGCTGTCp.H175CfsX31H175fs
Exon 6c.548delp.G183fsAfsX73G183fs
Exon 6c.559delp.L187WfsX69L187fs (559del)
Exon 6c.559dupp.L187PfsX11L187fs (559dup)
Exon 6c.560delp.L187RfsX69L187fs (560del)
Exon 6c.566dupp.K190EfsX8K190fs
Exon 6c.592_593delp.R198GfsX19R198fs
Intron 6c.598+1G>AIVS6+1G>A
Intron 6c.599_708delp.V200GfsX18V200fs
Exon 7c.603dupp.S203VfsX15S203fs (603dup)
Exon 7c.607delp.S203PfsX53S203fs (607del)
Exon 7c.619dupp.M207NfsX11M207fs
Exon 7c.675_676delp.S226WfsX28S226fs
Exon 7c.687T>Ap.Y229XY229X
Intron 7c.708+1G>AIVS7+1G>A
Intron 7c.708+1G>CIVS7+1G>C
Intron 7c.708+4A>TIVS7+4A>T
Intron 7c.708+5_708+8delIVS7+5_+8del
Intron 7c.708+6_708+9delIVS7+6_+9del
Intron 7c.709-3C>GIVS7-3C>G
Intron 7c.709-2A>GIVS7-2A>G
Intron 7c.709-2A>TIVS7-2A>T
Intron 7c.709-1G>AIVS7-1G>A
Intron 7c.709_835delp.A237WfsX4A237fs
Exon 8c.738C>Ap.C246XC246X
Exon 8c.745C>Tp.Q249XQ249X
Exon 8c.759_760delp.C253XC253X
Exon 8c.759_760dupp.D254VfsX3D254fs
Exon 8c.761_762insTGp.L255AfsX2L255fs
Exon 8c.768_769dupp.Q257PfsX27Q257fs (768_769dup)
Exon 8c.769delp.Q257RfsX26Q257fs (769del)
Exon 8c.775A>Tp.K259XK259X
Exon 8c.776dupp.C260VfsX14C260fs
Exon 8c.813_816delp.T272SfsX10T272fs
Exon 8c.833_834delp.T278SfsX7T278fs
Exon 8c.834dupp.V279SfsX7V279fs
Intron 8c.835_835+1insCTGAIVS8_+1insCTGA
Intron 8c.836-2A>CIVS8-2A>C
Intron 8c.836-1G>CIVS8-1G>C
Intron 8c.836-1G>TIVS8-1G>T
Exon 9c.848_854dupp.D285EfsX3D285fs
Exon 9c.882T>Gp.Y294XY294X
Exon 9c.898C>Tp.Q300XQ300X
Exon 9c.900_901dupp.S301CfsX61S301fs
Exon 9c.903_904insTGp.G302WfsX60G302fs
Exon 9c.907dupp.A303GfsX14A303fs (907dup)
Exon 9c.907delp.A303PfsX58A303fs (907del)
Exon 9c.909delp.W304GfsX57W304fs (909del)
Exon 9c.910_911insTGp.W304LfsX58W304fs (910_911insTG)
Exon 9c.911G>Ap.W304XW304X (911)
Exon 9c.912G>Ap.W304XW304X (912)
Exon 9c.918C>Gp.C306XC306X
Intron 9c.933+1delIVS9+1del
Intron 9c.933+1G>AIVS9+1G>A
Exon 10c.942C>Ap.C314XC314X
Exon 10c.975delp.F326LfsX35F326fs
Exon 10c.985_986insACp.D329?fsX?D329fs
Exon 10c.988_989delp.T330AfsX6T330fs
Exon 10c.988_989dupp.Q331RfsX31Q331fs
Exon 10c.998delp.G333VfsX28G333fs
Exon 10c.1009C>Tp.Q337XQ337X
Exon 10c.1013_1024delp.Q337_340delQ337_340del
Exon 10c.1012_1013delGGinsCp.G338RfsX23G338fs
Exon 10c.1014delp.H340TfsX21H340fs
Exon 10c.1021C>Tp.Q341XQ341X
Exon 10c.1048dupp.A350GfsX18A350fs
Exon 10c.1070delp.P357HfsX4P357fs
Exon 10c.1072C>Tp.Q358XQ358X
Exon 10c.1095_1096delp.C366XC366X
Exon 10c.1144dupp.T382NfsX32T382fs (1144dup)
Exon 10c.1145delp.T382SfsX30T382fs (1145del)
Exon 10c.1157G>Ap.W386XW386X
Exon 10c.1160dupp.C388LfsX26C388fs
Exon 10c.1179delp.A394LfsX18A394fs
Intron 10c.1179+2T>CIVS10+2T>C
Intron 10c.1179+3A>GIVS10+3A>G
Exon 11c.1196_1197delp.D399AfsX14D399fs
Exon 11c.1201C>Tp.Q401XQ401X
Exon 11c.1212C>Ap.C404XC404X
Exon 11c.1216C>Tp.Q406XQ406X
Exon 11c.1231_1232delp.V411SfsX2V411fs
Exon 11c.1231_1232dupp.A412XA412X
Exon 11c.1243C>Tp.Q415XQ415X
Exon 11c.1246dupp.C416LfsX30C416fs
Exon 11c.1252C>Tp.R418XR418X
Exon 11c.1256_1263dupp.I422EfsX72I422fs
Exon 11c.1263_1264insGAAGCGAGp.E421?fsX?E421fs
Exon 11c.1317_1318delp.D441HfsX4D441fs
Exon 11c.1336C>Tp.Q446XQ446X
Exon 11c.1354delp.V452WfsX39V452fs
Exon 11c.1359dupp.Q454AfsX58Q454fs
Exon 11c.1392G>Ap.W464XW464X
Exon 11c.1395dupp.C466LfsX46C466fs
Exon 11c.1402C>Tp.Q468XQ468X
Intron 11c.1414-1G>AIVS11-1G>A
Intron 11c.1415_1645delp.A472_Q548delA472_Q548del
Exon 12c.1414_1644delp.A472VfsX10A472fs
Exon 12c.1420_1421delp.C474LfsX37C474fs
Exon 12c.1428_1431delp.E476DfsX14E476fs
Exon 12c.1446C>Ap.C482XC482X
Exon 12c.1477C>Tp.R493XR493X
Exon 12c.1492G>Tp.E498XE498X
Exon 12c.1494_1498delp.E498DfsX12E498fs
Exon 12c.1507C>Tp.Q503XQ503X
Exon 12c.1508delp.Q503RfsX14Q503fs
Exon 12c.1535delp.P512LfsX5P512fs
Exon 12c.1538_1539delp.H513RfsX16H513fs
Exon 12c.1603C>Tp.R535XR535X
Exon 12c.1612C>Tp.R538XR538X