Primary Site >> Liver Cancer
Gene >> EPB41L3
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000341928 |
| Start | 5428442:5428442(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.936G>C |
| AA Mutation | p.Met312Ile(p.M312I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000341928 |
| Start | 5396214:5396214(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2960A>G |
| AA Mutation | p.Tyr987Cys(p.Y987C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000341928 |
| Start | 5410603:5410603(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2084C>A |
| AA Mutation | p.Thr695Lys(p.T695K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000341928 |
| Start | 5397254:5397254(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2645C>A |
| AA Mutation | p.Ala882Glu(p.A882E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000341928 |
| Start | 5423443:5423443(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1274G>A |
| AA Mutation | p.Arg425His(p.R425H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000341928 |
| Start | 5396259:5396259(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2915C>G |
| AA Mutation | p.Thr972Arg(p.T972R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000341928 |
| Start | 5433470:5433470(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.911A>T |
| AA Mutation | p.Lys304Met(p.K304M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000341928 |
| Start | 5434096:5434096(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.631G>C |
| AA Mutation | p.Asp211His(p.D211H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000341928 |
| Start | 5416316:5416316(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs779482228 |
| CDS Mutation | c.1569A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |