| Mutation (NM_002087.2) | Predicted protein change | Mutation alias | |
|---|---|---|---|
| Complete gene | delGRN[DR184] | ||
| c.-9A>G | (-9A>G) | ||
| Intron 1 | c.-8+2T>G | IVS1+2T>G | |
| Intron 1 | c.-8+3A>T | IVS1+3A>T | |
| Intron 1 | c.-8+5G>C | IVS1+5G>C | |
| Intron 1-12 | delGRN[London] | ||
| Intron 1-12 | delGRN[French] | ||
| Intron 1-12 | delGRN[Tubingen] | ||
| Exon 1 | delGRN[exon 1] | ||
| Exon 2 | c.1A>G | p.M1 | M1 (1A>G) |
| Exon 2 | c.1A>T | p.M1 | M1 (1A>T) |
| Exon 2 | c.2T>C | p.M1 | M1 (2T>C) |
| Exon 2 | c.3G>A | p.M1 | M1 (3G>A) |
| Exon 2 | c.6G>A | p.W2X | W2X |
| Exon 2 | c.19T>G | p.W7G | W7G |
| Exon 2 | c.19T>C | p.W7R | W7R |
| Exon 2 | c.23T>A | p.V8E | V8E |
| Exon 2 | c.25del | p.A9PfsX2 | A9fs |
| Exon 2 | c.26C>A | p.A9D | A9D |
| Exon 2 | c.29T>C | p.L10S | L10S |
| Exon 2 | c.58dup | p.C20LfsX45 | C20fs |
| Exon 2 | c.63_64insC | p.D22RfsX43 | D22fs |
| Exon 2 | c.70C>T | p.Q24X | Q24X |
| Exon 2 | c.78C>A | p.C26X | C26X |
| Exon 2 | c.80dup | p.V28CfsX37 | V28fs |
| Exon 2 | c.87dup | p.C30LfsX35 | C30fs |
| Exon 2 | c.87_90dup | p.C31LfsX35 | C31fs |
| Exon 2 | c.102del | p.G35EfsX19 | G35fs |
| Exon 2 | c.117dup | p.S40QfsX25 | S40fs |
| Intron 2 | c.138+1G>A | IVS2+1G>A | |
| Intron 2 | c.138+1_138+3del | IVS2+1_+3del | |
| Intron 2 | c.139-4C>T | IVS2-4C>T | |
| Intron 2 | c.139del | p.D47TfsX7 | D47fs |
| Exon 3 | c.146G>A | p.W49X | W49X (146G>A) |
| Exon 3 | c.147G>A | p.W49X | W49X (147G>A) |
| Exon 3 | c.154del | p.T52HfsX2 | T52fs |
| Exon 3 | c.232dup | p.S78FfsX41 | S78fs |
| Exon 3 | c.234_235del | p.G79DfsX39 | G79fs |
| Exon 3 | c.243del | p.S82VfsX174 | S82fs |
| Exon 3 | c.255del | p.F86SfsX170 | F86fs |
| Exon 3 | c.264G>A | EX3_ENDG>A | |
| Intron 3 | c.264+1G>A | IVS3+1G>A | |
| Intron 3 | c.264+2T>C | IVS3+2T>C | |
| Intron 3 | c.265-7T>G | IVS3-7T>G | |
| Intron 3 | c.265-2del | IVS3-2del | |
| Exon 4 | c.280del | p.D94MfsX162 | D94fs |
| Exon 4 | c.295_308del | p.Cys99fsX15 | C99fs |
| Exon 4 | c.299del | p.P100HfsX156 | P100fs |
| Exon 4 | c.314dup | p.C105WfsX14 | C105fs |
| Exon 4 | c.328C>T | p.R110X | R110X |
| Exon 4 | c.347C>A | p.S116X | S116X |
| Exon 4 | c.349G>A | EX4_ENDG>A | |
| Intron 4 | c.349+1G>A | IVS4+1G>A | |
| Intron 4 | c.349+1G>C | IVS4+1G>C | |
| Intron 4 | c.349+2T>C | IVS4+2T>C | |
| Intron 4 | c.350-1G>T | IVS4-1G>T | |
| Exon 5 | c.350_462del | p.N118FfsX4 | N118fs |
| Exon 5 | c.361del | p.V121WfsX135 | V121fs |
| Exon 5 | c.373C>T | p.Q125X | Q125X |
| Exon 5 | c.378C>A | p.C126X | C126X |
| Exon 5 | c.380_381del | p.P127RfsX2 | P127fs |
| Exon 5 | c.384_387del | p.Q130SfsX125 | Q130fs (384_387del) |
| Exon 5 | c.385dup | p.S129KfsX? | S129fs |
| Exon 5 | c.388C>T | p.Q130X | Q130X |
| Exon 5 | c.388_391del | p.Q130SfsX125 | Q130fs (388_391del) |
| Exon 5 | c.421_422del | p.V141YfsX18 | V141fs |
| Exon 5 | c.443_444del | p.G148VfsX11 | G148fs |
| Exon 5 | c.445_446del | p.C149fsX10 | C149fs |
| Exon 5 | c.460C>T | p.Q154X | Q154X |
| Intron 5 | c.462+1G>C | IVS5+1G>C | |
| Intron 5 | c.463-1G>T | IVS5-1G>T | |
| Intron 5 | c.463_598del | p.A155WfsX56 | A155fs |
| Exon 6 | c.468_474del | p.C157KfsX97 | C157fs |
| Exon 6 | c.481_482del | p.R161GfsX36 | R161fs |
| Exon 6 | c.472_496dup | p.P166LfsX2 | P166fs |
| Exon 6 | c.512del | p.C171SfsX85 | C171fs |
| Exon 6 | c.522_523insTGTGAAGACAGGGTGCACTGCTGTC | p.H175CfsX31 | H175fs |
| Exon 6 | c.548del | p.G183fsAfsX73 | G183fs |
| Exon 6 | c.559del | p.L187WfsX69 | L187fs (559del) |
| Exon 6 | c.559dup | p.L187PfsX11 | L187fs (559dup) |
| Exon 6 | c.560del | p.L187RfsX69 | L187fs (560del) |
| Exon 6 | c.566dup | p.K190EfsX8 | K190fs |
| Exon 6 | c.592_593del | p.R198GfsX19 | R198fs |
| Intron 6 | c.598+1G>A | IVS6+1G>A | |
| Intron 6 | c.599-2A>G | IVS6-2A>G | |
| Intron 6 | c.599_708del | p.V200GfsX18 | V200fs |
| Exon 7 | c.603dup | p.S203VfsX15 | S203fs (603dup) |
| Exon 7 | c.607del | p.S203PfsX53 | S203fs (607del) |
| Exon 7 | c.619dup | p.M207NfsX11 | M207fs |
| Exon 7 | c.675_676del | p.S226WfsX28 | S226fs |
| Exon 7 | c.687T>A | p.Y229X | Y229X |
| Intron 7 | c.708+1G>A | IVS7+1G>A | |
| Intron 7 | c.708+1G>C | IVS7+1G>C | |
| Intron 7 | c.708+4A>T | IVS7+4A>T | |
| Intron 7 | c.708+5_708+8del | IVS7+5_+8del | |
| Intron 7 | c.708+6_708+9del | IVS7+6_+9del | |
| Intron 7 | c.709-3C>G | IVS7-3C>G | |
| Intron 7 | c.709-2A>G | IVS7-2A>G | |
| Intron 7 | c.709-2A>T | IVS7-2A>T | |
| Intron 7 | c.709-1G>A | IVS7-1G>A | |
| Intron 7 | c.709_835del | p.A237WfsX4 | A237fs |
| Exon 8 | c.738C>A | p.C246X | C246X |
| Exon 8 | c.745C>T | p.Q249X | Q249X |
| Exon 8 | c.759_760del | p.C253X | C253X |
| Exon 8 | c.759_760dup | p.D254VfsX3 | D254fs |
| Exon 8 | c.761_762insTG | p.L255AfsX2 | L255fs |
| Exon 8 | c.768_769dup | p.Q257PfsX27 | Q257fs (768_769dup) |
| Exon 8 | c.769del | p.Q257RfsX26 | Q257fs (769del) |
| Exon 8 | c.775A>T | p.K259X | K259X |
| Exon 8 | c.776dup | p.C260VfsX14 | C260fs |
| Exon 8 | c.813_816del | p.T272SfsX10 | T272fs |
| Exon 8 | c.833_834del | p.T278SfsX7 | T278fs |
| Exon 8 | c.834dup | p.V279SfsX7 | V279fs |
| Intron 8 | c.835_835+1insCTGA | IVS8_+1insCTGA | |
| Intron 8 | c.836-2A>C | IVS8-2A>C | |
| Intron 8 | c.836-1G>C | IVS8-1G>C | |
| Intron 8 | c.836-1G>T | IVS8-1G>T | |
| Exon 9 | c.848_854dup | p.D285EfsX3 | D285fs |
| Exon 9 | c.882T>G | p.Y294X | Y294X |
| Exon 9 | c.898C>T | p.Q300X | Q300X |
| Exon 9 | c.900_901dup | p.S301CfsX61 | S301fs |
| Exon 9 | c.903_904insTG | p.G302WfsX60 | G302fs |
| Exon 9 | c.907dup | p.A303GfsX14 | A303fs (907dup) |
| Exon 9 | c.907del | p.A303PfsX58 | A303fs (907del) |
| Exon 9 | c.909del | p.W304GfsX57 | W304fs (909del) |
| Exon 9 | c.910_911insTG | p.W304LfsX58 | W304fs (910_911insTG) |
| Exon 9 | c.911G>A | p.W304X | W304X (911) |
| Exon 9 | c.912G>A | p.W304X | W304X (912) |
| Exon 9 | c.918C>G | p.C306X | C306X |
| Intron 9 | c.933+1del | IVS9+1del | |
| Intron 9 | c.933+1G>A | IVS9+1G>A | |
| Exon 10 | c.942C>A | p.C314X | C314X |
| Exon 10 | c.945_946del | p.C315X | C315X |
| Exon 10 | c.975del | p.F326LfsX35 | F326fs |
| Exon 10 | c.985_986insAC | p.D329?fsX? | D329fs |
| Exon 10 | c.988_989del | p.T330AfsX6 | T330fs |
| Exon 10 | c.988_989dup | p.Q331RfsX31 | Q331fs |
| Exon 10 | c.998del | p.G333VfsX28 | G333fs |
| Exon 10 | c.1009C>T | p.Q337X | Q337X |
| Exon 10 | c.1010_1011del | p.Q337RfsX39 | Q337fs |
| Exon 10 | c.1013_1024del | p.Q337_340del | Q337_340del |
| Exon 10 | c.1012_1013delGGinsC | p.G338RfsX23 | G338fs |
| Exon 10 | c.1014del | p.H340TfsX21 | H340fs |
| Exon 10 | c.1021C>T | p.Q341X | Q341X |
| Exon 10 | c.1048dup | p.A350GfsX18 | A350fs |
| Exon 10 | c.1070del | p.P357HfsX4 | P357fs |
| Exon 10 | c.1072C>T | p.Q358X | Q358X |
| Exon 10 | c.1095_1096del | p.C366X | C366X |
| Exon 10 | c.1144dup | p.T382NfsX32 | T382fs (1144dup) |
| Exon 10 | c.1145del | p.T382SfsX30 | T382fs (1145del) |
| Exon 10 | c.1157G>A | p.W386X | W386X |
| Exon 10 | c.1160dup | p.C388LfsX26 | C388fs |
| Exon 10 | c.1179del | p.A394LfsX18 | A394fs |
| Exon 10 | c.1179G>A | EX10_ENDG>A | |
| Intron 10 | c.1179+2T>C | IVS10+2T>C | |
| Intron 10 | c.1179+3A>T | IVS10+3A>T | |
| Intron 10 | c.1179+3A>G | IVS10+3A>G | |
| Exon 11 | c.1184_1187del | V395fs | |
| Exon 11 | c.1196_1197del | p.D399AfsX14 | D399fs |
| Exon 11 | c.1201C>T | p.Q401X | Q401X |
| Exon 11 | c.1212C>A | p.C404X | C404X |
| Exon 11 | c.1216C>T | p.Q406X | Q406X |
| Exon 11 | c.1231_1232del | p.V411SfsX2 | V411fs |
| Exon 11 | c.1231_1232dup | p.A412X | A412X |
| Exon 11 | c.1243C>T | p.Q415X | Q415X |
| Exon 11 | c.1246dup | p.C416LfsX30 | C416fs |
| Exon 11 | c.1252C>T | p.R418X | R418X |
| Exon 11 | c.1256_1263dup | p.I422EfsX72 | I422fs |
| Exon 11 | c.1263_1264insGAAGCGAG | p.E421?fsX? | E421fs |
| Exon 11 | c.1317_1318del | p.P439?fsX? | P439fs |
| Exon 11 | p.D441HfsX4 | D441fs | |
| Exon 11 | c.1336C>T | p.Q446X | Q446X |
| Exon 11 | c.1354del | p.V452WfsX39 | V452fs |
| Exon 11 | c.1359dup | p.Q454AfsX58 | Q454fs |
| Exon 11 | c.1392G>A | p.W464X | W464X |
| Exon 11 | c.1395dup | p.C466LfsX46 | C466fs |
| Exon 11 | c.1402C>T | p.Q468X | Q468X |
| Intron 11 | c.1414-1G>A | IVS11-1G>A | |
| Intron 11 | c.1415_1645del | p.A472_Q548del | A472_Q548del |
| Exon 12 | c.1414_1644del | p.A472VfsX10 | A472fs |
| Exon 12 | c.1420_1421del | p.C474LfsX37 | C474fs |
| Exon 12 | c.1428_1431del | p.E476DfsX14 | E476fs |
| Exon 12 | c.1446C>A | p.C482X | C482X |
| Exon 12 | c.1477C>T | p.R493X | R493X |
| Exon 12 | c.1492G>T | p.E498X | E498X |
| Exon 12 | c.1494_1498del | p.E498DfsX12 | E498fs |
| Exon 12 | c.1507C>T | p.Q503X | Q503X |
| Exon 12 | c.1508del | p.Q503RfsX14 | Q503fs |
| Exon 12 | c.1535del | p.P512LfsX5 | P512fs |
| Exon 12 | c.1538_1539del | p.H513RfsX16 | H513fs |
| Exon 12 | c.1603C>T | p.R535X | R535X |
| Exon 12 | c.1612C>T | p.R538X | R538X |
