Primary Site >> Esophagus Cancer
Gene >> TSC1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000298552 |
| Start | 132912438:132912438(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.757C>A |
| AA Mutation | p.His253Asn(p.H253N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000298552 |
| Start | 132907340:132907340(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1294C>G |
| AA Mutation | p.Leu432Val(p.L432V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000298552 |
| Start | 132901692:132901692(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2399T>G |
| AA Mutation | p.Leu800Arg(p.L800R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000298552 |
| Start | 132910657:132910657(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1177A>T |
| AA Mutation | p.Thr393Ser(p.T393S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000298552 |
| Start | 132903715:132903715(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2144G>A |
| AA Mutation | p.Arg715Gln(p.R715Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000298552 |
| Start | 132921396:132921396(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.704C>A |
| AA Mutation | p.Thr235Asn(p.T235N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000298552 |
| Start | 132903785:132903785(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs118203631 |
| CDS Mutation | c.2074C>T |
| AA Mutation | p.Arg692Ter(p.R692*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |