Primary Site >> Esophagus Cancer
Gene >> ACHE
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000241069 |
| Start | 100892581:100892581(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1306C>T |
| AA Mutation | p.His436Tyr(p.H436Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000241069 |
| Start | 100894027:100894027(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.206C>T |
| AA Mutation | p.Ala69Val(p.A69V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000241069 |
| Start | 100892786:100892786(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761981699 |
| CDS Mutation | c.1101G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000241069 |
| Start | 100892675:100892675(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1212G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | stop_gained;inframe_insertion |
| Transcription ID | ENST00000241069 |
| Start | 100892749:100892750(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1137_1138insTAATGGCCCAAAAGTAGATAATATCACTACACGGCAGAG |
| AA Mutation | p.Lys379_Asp380insTer(p.K379_D380ins*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000241069 |
| Start | 100892593:100892594(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1293_1294insACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCCCA |
| AA Mutation | p.Val432ThrfsTer43(p.V432Tfs*43) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |