GRN mutations

 MutationPredicted protein changeMutation alias
Complete genedelGRN[DR184]
Intron 1NM_002087.2:c.-8+3A>TIVS1+3A>T
Intron 1NM_002087.2:c.-8+5G>CIVS1+5G>C
Intron 1-12delGRN[London]
Intron 1-12delGRN[French]
Intron 1-12delGRN[Tubingen]
Exon 2NM_002087.2:c.1A>Gp.M1M1 (1A>G)
Exon 2NM_002087.2:c.2T>Cp.M1M1 (2T>C)
Exon 2NM_002087.2:c.3G>Ap.M1M1 (3G>A)
Exon 2NM_002087.2:c.26C>A:p.(Ala9Asp)p.A9DA9D
Exon 2NM_002087.2:c.58dup:p.(Cys20Leufs*45)p.C20LfsX45C20fs
Exon 2NM_002087.2:c.63_64insC:p.(Asp22Argfs*43)p.D22RfsX43D22fs
Exon 2NM_002087.2:c.78C>A:p.(Cys26*)p.C26XC26X
Exon 2NM_002087.2:c.87dup:p.(Cys30Leufs*35)p.C30LfsX35C30fs
Exon 2NM_002087.2:c.87_90dup:p.(Cys31Leufs*35)p.C31LfsX35C31fs
Exon 2NM_002087.2:c.102del:p.(Gly35Glufs*19)p.G35EfsX19G35fs
Exon 2NM_002087.2:c.117dup:p.(Ser40Glnfs*25)p.S40QfsX25S40fs
Intron 2NM_002087.2:c.138+1G>AIVS2+1G>A
Intron 2NM_002087.2:c.139-4C>TIVS2-4C>T
Intron 2NM_002087.2:c.139del:p.(Asp47Thrfs*7)p.D47TfsX7D47fs
Exon 3NM_002087.2:c.154del:p.(Thr52Hisfs*2)p.T52HfsX2T52fs
Exon 3NM_002087.2:c.232dup:p.(Ser78Phefs*41)p.S78FfsX41S78fs
Exon 3NM_002087.2:c.234_235del:p.(Gly79Aspfs*39)p.G79DfsX39G79fs
Exon 3NM_002087.2:c.243del:p.(Ser82Valfs*174)p.S82VfsX174S82fs
Exon 3NM_002087.2:c.255del:p.(Phe86Serfs*170)p.F86SfsX170F86fs
Intron 3NM_002087.2:c.264+2T>CIVS3+2T>C
Intron 3NM_002087.2:c.265-2delIVS3-2delA
Exon 4NM_002087.2:c.280del:p.(Asp94Metfs*162)p.D94MfsX162D94fs
Exon 4NM_002087.2:c.295_308del:p.(Cys99Profs*15)p.Cys99fsX15C99fs
Exon 4NM_002087.2:c.299del:p.(Pro100Hisfs*156)p.P100HfsX156P100fs
Exon 4NM_002087.2:c.314dup:p.(Cys105Trpfs*14)p.C105fsC105fs
Exon 4NM_002087.2:c.314G>A:p.(Cys105Tyr)p.C105YC105Y
Exon 4NM_002087.2:c.328C>T:p.(Arg110*)p.R110XR110X
Exon 4NM_002087.2:c.347C>A:p.(Ser116*)p.S116XS116X
Intron 4NM_002087.2:c.349+1G>CIVS4+1G>C
Intron 4NM_002087.2:c.350-1G>TIVS4-1G>T
Exon 5NM_002087.2:c.350_462del:p.(Asn118Phefs*4)p.N118FfsX4N118fs
Exon 5NM_002087.2:c.361del:p.(Val121Trpfs*135)p.V121WfsX135V121fs
Exon 5NM_002087.2:c.373C>T:p.(Gln125*)p.Q125XQ125X
Exon 5NM_002087.2:c.378C>A:p.(Cys126*)p.C126XC126X
Exon 5NM_002087.2:c.380_381del:p.(Pro127Argfs*2)p.P127RfsX2P127fs
Exon 5NM_002087.2:c.384_387del:p.(Gln130Serfs*125)p.Q130SfsX125Q130fs (384_387delTAGT)
Exon 5NM_002087.2:c.388_391del:p.(Gln130Serfs*125)p.Q130SfsX125Q130fs (388_391delCAGT)
Exon 5NM_002087.2:c.421_422del:p.(Val141Tyrfs*18)p.V141YfsX18V141fs
Exon 5NM_002087.2:c.445_446del:p.(Cys149Leufs*10)p.C149fsX10C149fs
Intron 5NM_002087.2:c.463_598del:p.(Ala155Trpfs*56)p.A155WfsX56A155fs
Exon 6NM_002087.2:c.468_474del:p.(Cys157Lysfs*97)p.C157KfsX97C157fs
Exon 6NM_002087.2:c.481_482del:p.(Arg161Glyfs*36)p.R161GfsX36R161fs
Exon 6NM_002087.2:c.559del:p.(Leu187Trpfs*69)p.L187WfsX69L187fs (559del)
Exon 5NM_002087.2:c.559dup:p.(Leu187Profs*11)p.L187PfsX11L187fs (559dup)
Exon 6NM_002087.2:c.592_593del:p.(Arg198Glyfs*19)p.R198GfsX19R198fs
Exon 6NM_002087.2:c.596C>T:p.(Ala199Val)p.A199VA199V
Exon 7NM_002087.2:c.603dup:p.(Ser203Valfs*15)p.S203VfsX15S203fs (603_604insC)
Exon 7NM_002087.2:c.607del:p.(Ser203Profs*53)p.S203PfsX53S203fs (607delT)
Exon 7NM_002087.2:c.675_676del:p.(Ser226Trpfs*28)p.S226WfsX28S226fs
Exon 7NM_002087.2:c.687T>A:p.(Tyr229*)p.Y229XY229X
Intron 7NM_002087.2:c.708+1G>AIVS7+1G>A
Intron 7NM_002087.2:c.708+1G>CIVS7+1G>C
Intron 7NM_002087.2:c.708+5_8delGTGAIVS7+5_8delGTGA
Intron 7NM_002087.2:c.708+6_9delTGAGIVS7+6_9delTGAG
Intron 7NM_002087.2:c.709-2A>GIVS7-2A>G
Intron 7NM_002087.2:c.709-2A>TIVS7-2A>T
Intron 7NM_002087.2:c.709-1G>AIVS7-1G>A
Exon 8NM_002087.2:c.745C>T:p.(Gln249*)p.Q249XQ249X
Exon 8NM_002087.2:c.759_760del:p.(Cys253*)p.C253XC253X
Exon 8NM_002087.2:c.759_760dup:p.(Asp254Valfs*3)p.D254VfsX3D254fs
Exon 8NM_002087.2:c.761_762insTG:p.(Leu255Alafs*2)p.L255AfsX2L255fs
Exon 8NM_002087.2:c.768_769dup:p.(Gln257Profs*27)p.Q257PfsX27Q257fs
Exon 8NM_002087.2:c.775A>T:p.(Lys259*)p.K259XK259X
Exon 8NM_002087.2:c.813_816del:p.(Thr272Serfs*10)p.T272SfsX10T272fs
Intron 8NM_002087.2:c.709_835del:p.(Ala237Trpfs*4)p.A237WfsX4A237fs
Intron 8NM_002087.2:c.833_834del:p.(Thr278Serfs*7)p.T278SfsX7T278fs
Intron 8NM_002087.2:c.836-1G>CIVS8-1G>C
Intron 8NM_002087.2:c.836-1G>TIVS8-1G>T
Exon 9NM_002087.2:c.848_854dup:p.(Asp285Glufs*3)p.D285EfsX3D285fs
Exon 9NM_002087.2:c.882T>G:p.(Tyr294*)p.Y294XY294X
Exon 9NM_002087.2:c.898C>T:p.(Gln300*)p.Q300XQ300X
Exon 9NM_002087.2:c.900_901dup:p.(Ser301Cysfs*61)p.S301CfsX61S301fs
Exon 9NM_002087.2:c.903_904insTG:p.(Gly302Trpfs*60)p.G302WfsX60G302fs
Exon 9NM_002087.2:c.907dup:p.(Ala303Glyfs*14)p.A303GfsX14A303fs (907_908insG)
Exon 9NM_002087.2:c.907del:p.(Ala303Profs*58)p.A303PfsX58A303fs (907delG)
Exon 9NM_002087.2:c.909del:p.(Trp304Glyfs*57)p.W304GfsX57W304fs (909delC)
Exon 9NM_002087.2:c.910_911insTG:p.(Trp304Leufs*58)p.W304LfsX58W304fs (910_911insTG)
Exon 9NM_002087.2:c.911G>A:p.(Trp304*)p.W304XW304X
Intron 9NM_002087.2:c.933+1delIVS9+1delG
Intron 9NM_002087.2:c.933+1G>AIVS9+1G>A
Exon 10NM_002087.2:c.942C>A:p.(Cys314*)p.C314XC314X
Exon 10NM_002087.2:c.975del:p.(Phe326Leufs*35)p.F326LfsX35F326fs
Exon 10NM_002087.2:c.988_989del:p.(Thr330Alafs*6)p.T330AfsX6T330fs
Exon 10NM_002087.2:c.988_989dup:p.(Gln331Argfs*31)p.Q331RfsX31Q331fs
Exon 10NM_002087.2:c.998del:p.(Gly333Valfs*28)p.G333VfsX28G333fs
Exon 10NM_002087.2:c.1009C>T:p.(Gln337*)p.Q337XQ337X
Exon 10NM_002087.2:c.1013_1024del:p.(Gly338_Gln341del)p.Q337_340delQ337_340del
Exon 10NM_002087.2:c.1012_1013delinsC:p.(Gly338Argfs*23)p.G338RfsX23G338fs
Exon 10NM_002087.2:c.1014del:p.(His340Thrfs*21)p.H340TfsX21H340fs
Exon 10NM_002087.2:c.1021C>T:p.(Gln341*)p.Q341XQ341X
Exon 10NM_002087.2:c.1048dup:p.(Ala350Glyfs*18)p.A350GfsX18A350fs
Exon 10NM_002087.2:c.1070del:p.(Pro357Hisfs*4)p.P357HfsX4P357fs
Exon 10NM_002087.2:c.1072C>T:p.(Gln358*)p.Q358XQ358X
Exon 10NM_002087.2:c.1095_1096del:p.(Cys366*)p.C366fsX1C366fs
Exon 10NM_002087.2:c.1117C>T:p.(Pro373Ser)p.P373SP373S
Exon 10NM_002087.2:c.1144dup:p.(Thr382Asnfs*32)p.T382NfsX32T382fs (1144_1145insA)
Exon 10NM_002087.2:c.1145del:p.(Thr382Serfs*30)p.T382SfsX30T382fs (1145delC)
Exon 10NM_002087.2:c.1157G>A:p.(Trp386*)p.W386XW386X
Intron 10NM_002087.2:c.1179del:p.(Ala394Leufs*18)p.A394LfsX18A394fs
Intron 10NM_002087.2:c.1179+2T>CIVS10+2T>C
Intron 10NM_002087.2:c.1179+3A>GIVS10+3A>G
Exon 11NM_002087.2:c.1196_1197del:p.(Asp399Afs*14)p.D399AfsX14D399fs
Exon 11NM_002087.2:c.1201C>T:p.(Gln401*)p.Q401XQ401X
Exon 11NM_002087.2:c.1212C>A:p.(Cys404*)p.C404XC404X
Exon 11NM_002087.2:c.1231_1232del:p.(Val411Serfs*2)p.V411SfsX2V411fs
Exon 11NM_002087.2:c.1231_1232dup:p.(Ala412*)p.A412XA412X
Exon 11NM_002087.2:c.1243C>T:p.(Gln415*)p.Q415XQ415X
Exon 11NM_002087.2:c.1246dup:p.(Cys416Leufs*30)p.C416LfsX30C416fs
Exon 11NM_002087.2:c.1252C>T:p.(Arg418*)p.R418XR418X
Exon 11NM_002087.2:c.1256_1263dup:p.(Ile422Glufs*72)p.I422EfsX72I422fs
Exon 11NM_002087.2:c.1317_1318del:p.(Asp441Hisfs*4)p.D441HfsX4D441fs
Exon 11NM_002087.2:c.1354del:p.(Val452Trpfs*39)p.V452WfsX39V452fs
Exon 11NM_002087.2:c.1395dup:p.(Cys466Leufs*46)p.C466LfsX46C466fs
Exon 11NM_002087.2:c.1402C>T:p.(Gln468*)p.Q468XQ468X
Intron 11NM_002087.2:c.1415_1645del:p.(Ala472_Gln548del)p.A472_Q548delA472_Q548del
Exon 12NM_002087.2:c.1414_1644del:p.(Ala472Valfs*10)p.A472VfsX10A472fs
Exon 12NM_002087.2:c.1420_1421del:p.(Cys474Leufs*37)p.C474LfsX37C474fs
Exon 12NM_002087.2:c.1428_1431del:p.(Glu476Aspfs*14)p.E476DfsX14E476fs
Exon 12NM_002087.2:c.1446C>A:p.(Cys482*)p.C482XC482X
Exon 12NM_002087.2:c.1477C>T:p.(Arg493*)p.R493XR493X
Exon 12NM_002087.2:c.1494_1498del:p.(Glu498Aspfs*12)p.E498DfsX12E498fs
Exon 12NM_002087.2:c.1507C>T:p.(Gln503*)p.Q503XQ503X
Exon 12NM_002087.2:c.1603C>T:p,(Arg535*)p.R535XR535X
Exon 12NM_002087.2:c.1612C>T:p.(Arg538*)p.R538XR538X