Primary Site >> Liver Cancer
Gene >> NPC1L1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000289547 |
| Start | 44540287:44540287(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.110A>G |
| AA Mutation | p.Asp37Gly(p.D37G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000289547 |
| Start | 44533542:44533542(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2298G>A |
| AA Mutation | p.Met766Ile(p.M766I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000289547 |
| Start | 44515887:44515887(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3793T>A |
| AA Mutation | p.Phe1265Ile(p.F1265I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000289547 |
| Start | 44539171:44539171(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1226A>T |
| AA Mutation | p.Gln409Leu(p.Q409L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000289547 |
| Start | 44540262:44540262(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761127381 |
| CDS Mutation | c.135G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000289547 |
| Start | 44538954:44538954(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1443T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000289547 |
| Start | 44535897:44535897(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1926C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000289547 |
| Start | 44515906:44515906(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3774G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000289547 |
| Start | 44515819:44515819(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs780659447 |
| CDS Mutation | c.3861C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000289547 |
| Start | 44517339:44517339(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3236delA |
| AA Mutation | p.Tyr1079PhefsTer5(p.Y1079Ffs*5) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |