Primary Site >> Pancreatic Cancer
Gene >> SMAD4
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51065549:51065549(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377767347 |
| CDS Mutation | c.1082G>A |
| AA Mutation | p.Arg361His(p.R361H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078333:51078333(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1525T>G |
| AA Mutation | p.Trp509Gly(p.W509G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078417:51078417(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1609G>C |
| AA Mutation | p.Asp537His(p.D537H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51065548:51065548(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs80338963 |
| CDS Mutation | c.1081C>T |
| AA Mutation | p.Arg361Cys(p.R361C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51065531:51065531(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1064A>G |
| AA Mutation | p.Asp355Gly(p.D355G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51067030:51067030(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1151G>A |
| AA Mutation | p.Gly384Asp(p.G384D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078295:51078295(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1487G>A |
| AA Mutation | p.Arg496His(p.R496H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51048723:51048723(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.287C>A |
| AA Mutation | p.Ala96Asp(p.A96D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51048762:51048762(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.326T>A |
| AA Mutation | p.Leu109Gln(p.L109Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51065519:51065519(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1052A>C |
| AA Mutation | p.Asp351Ala(p.D351A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078415:51078415(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1607T>C |
| AA Mutation | p.Leu536Pro(p.L536P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51067024:51067024(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1145A>T |
| AA Mutation | p.His382Leu(p.H382L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51048789:51048789(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.353C>T |
| AA Mutation | p.Ala118Val(p.A118V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51065522:51065522(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1055G>T |
| AA Mutation | p.Gly352Val(p.G352V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51058134:51058134(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.678delC |
| AA Mutation | p.Ser227ValfsTer14(p.S227Vfs*14) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51065491:51065491(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1025delC |
| AA Mutation | p.Pro342LeufsTer42(p.P342Lfs*42) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078327:51078328(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1520_1521delAA |
| AA Mutation | p.Lys507ArgfsTer19(p.K507Rfs*19) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078391:51078394(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.1585_1588delTTAC |
| AA Mutation | p.Leu529ThrfsTer7(p.L529Tfs*7) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51059886:51059892(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.925_931delGCATTCC |
| AA Mutation | p.Ala309SerfsTer25(p.A309Sfs*25) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078372:51078373(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs377767374 |
| CDS Mutation | c.1564_1565delCC |
| AA Mutation | p.Pro522LeufsTer4(p.P522Lfs*4) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51076669:51076696(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1349_1376delAGGCGGCTACTGCACAAGCTGCAGCAGC |
| AA Mutation | p.Gln450LeufsTer17(p.Q450Lfs*17) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51058360:51058360(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.809delG |
| AA Mutation | p.Gly270GlufsTer66(p.G270Efs*66) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51076658:51076658(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1329T>A |
| AA Mutation | p.Cys443Ter(p.C443*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51065495:51065495(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1028C>A |
| AA Mutation | p.Ser343Ter(p.S343*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51078366:51078366(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1558G>T |
| AA Mutation | p.Glu520Ter(p.E520*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51065521:51065521(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1054G>T |
| AA Mutation | p.Gly352Ter(p.G352*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | stop_gained;frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078345:51078346(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1538dupA |
| AA Mutation | p.Tyr513Ter(p.Y513*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51049301:51049301(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.431C>G |
| AA Mutation | p.Ser144Ter(p.S144*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51058417:51058417(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.865C>T |
| AA Mutation | p.Gln289Ter(p.Q289*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51048839:51048839(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377767326 |
| CDS Mutation | c.403C>T |
| AA Mutation | p.Arg135Ter(p.R135*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51054859:51054859(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.533C>A |
| AA Mutation | p.Ser178Ter(p.S178*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51078335:51078335(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377767370 |
| CDS Mutation | c.1527G>A |
| AA Mutation | p.Trp509Ter(p.W509*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51067111:51067112(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1234dupT |
| AA Mutation | p.Tyr412LeufsTer17(p.Y412Lfs*17) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000342988 |
| Start | 51058455:51058456(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.904+1_904+2dupGT |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51048845:51048846(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.410dupT |
| AA Mutation | p.Ser138IlefsTer5(p.S138Ifs*5) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000342988 |
| Start | 51065607:51065608(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1139+1_1139+2delGT |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | inframe_deletion |
| Transcription ID | ENST00000342988 |
| Start | 51065538:51065546(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1072_1080delGGAGGAGAT |
| AA Mutation | p.Gly358_Asp360del(p.G358_D360del) |
| Mutation Classification | In_Frame_Del |
| Feature Type | Transcript |