Primary Site >> Esophagus Cancer
Gene >> BRCA2
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000380152 |
| Start | 32380076:32380076(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs80359176 |
| CDS Mutation | c.9187C>T |
| AA Mutation | p.Pro3063Ser(p.P3063S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000380152 |
| Start | 32380049:32380049(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs786204070 |
| CDS Mutation | c.9160C>T |
| AA Mutation | p.Pro3054Ser(p.P3054S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000380152 |
| Start | 32326599:32326599(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs397507832 |
| CDS Mutation | c.617C>G |
| AA Mutation | p.Ser206Cys(p.S206C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000380152 |
| Start | 32325129:32325129(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.370A>G |
| AA Mutation | p.Met124Val(p.M124V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000380152 |
| Start | 32332358:32332358(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs397508009 |
| CDS Mutation | c.880G>T |
| AA Mutation | p.Glu294Ter(p.E294*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000380152 |
| Start | 32339699:32339700(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.5351dupA |
| AA Mutation | p.Asn1784LysfsTer3(p.N1784Kfs*3) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |