Primary Site >> Liver Cancer
Gene >> COL6A2
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000300527 |
| Start | 46115899:46115899(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.829G>A |
| AA Mutation | p.Gly277Arg(p.G277R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000300527 |
| Start | 46132034:46132034(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2542A>G |
| AA Mutation | p.Asn848Asp(p.N848D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000300527 |
| Start | 46122497:46122497(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1574G>A |
| AA Mutation | p.Gly525Glu(p.G525E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000300527 |
| Start | 46132224:46132224(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2732T>A |
| AA Mutation | p.Leu911Gln(p.L911Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000300527 |
| Start | 46132140:46132150(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.2649_2659delTGGCCCCGGCG |
| AA Mutation | p.Gly884AlafsTer105(p.G884Afs*105) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | inframe_deletion |
| Transcription ID | ENST00000300527 |
| Start | 46132231:46132233(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs746930351 |
| CDS Mutation | c.2741_2743delTCT |
| AA Mutation | p.Phe914del(p.F914del) |
| Mutation Classification | In_Frame_Del |
| Feature Type | Transcript |