Primary Site >> Esophagus Cancer
Gene >> SMAD4
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078379:51078379(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377767375 |
| CDS Mutation | c.1571G>T |
| AA Mutation | p.Trp524Leu(p.W524L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| 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 | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51065533:51065533(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1066C>T |
| AA Mutation | p.Pro356Ser(p.P356S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51065484:51065484(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1017T>A |
| AA Mutation | p.Phe339Leu(p.F339L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000342988 |
| Start | 51067036:51067036(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1157G>T |
| AA Mutation | p.Gly386Val(p.G386V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| 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 | 7 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000342988 |
| Start | 51078412:51078418(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1604_1610delTCCTAGA |
| AA Mutation | p.Leu535ProfsTer15(p.L535Pfs*15) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51076662:51076662(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377767360 |
| CDS Mutation | c.1333C>T |
| AA Mutation | p.Arg445Ter(p.R445*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000342988 |
| Start | 51054859:51054859(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377767331 |
| CDS Mutation | c.533C>G |
| AA Mutation | p.Ser178Ter(p.S178*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |