Primary Site >> Liver Cancer
Gene >> RB1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000267163 |
| Start | 48453037:48453037(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1740A>C |
| AA Mutation | p.Glu580Asp(p.E580D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000267163 |
| Start | 48456301:48456301(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1912A>T |
| AA Mutation | p.Thr638Ser(p.T638S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000267163 |
| Start | 48307339:48307339(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.197T>A |
| AA Mutation | p.Ile66Lys(p.I66K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000267163 |
| Start | 48307341:48307341(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.199C>G |
| AA Mutation | p.Pro67Ala(p.P67A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000267163 |
| Start | 48367500:48367500(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.946A>T |
| AA Mutation | p.Asn316Tyr(p.N316Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000267163 |
| Start | 48379612:48379612(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1351delC |
| AA Mutation | p.Arg451AlafsTer6(p.R451Afs*6) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000267163 |
| Start | 48303924:48303967(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.19_62delCGAAAAACGGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCCCC |
| AA Mutation | p.Arg7GlyfsTer9(p.R7Gfs*9) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000267163 |
| Start | 48362852:48362852(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.756delA |
| AA Mutation | p.Arg254GlyfsTer10(p.R254Gfs*10) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000267163 |
| Start | 48463788:48463788(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.2167delA |
| AA Mutation | p.Ile723SerfsTer3(p.I723Sfs*3) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000267163 |
| Start | 48307376:48307376(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.234G>A |
| AA Mutation | p.Trp78Ter(p.W78*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000267163 |
| Start | 48345184:48345185(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.485_486insA |
| AA Mutation | p.Phe162LeufsTer9(p.F162Lfs*9) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000267163 |
| Start | 48364896:48364897(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.869dupA |
| AA Mutation | p.Asn290LysfsTer20(p.N290Kfs*20) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000267163 |
| Start | 48373469:48373470(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1196dupA |
| AA Mutation | p.Asn399LysfsTer7(p.N399Kfs*7) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000267163 |
| Start | 48379605:48379606(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1346dupG |
| AA Mutation | p.Val450SerfsTer13(p.V450Sfs*13) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000267163 |
| Start | 48456342:48456343(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1959dupA |
| AA Mutation | p.Val654SerfsTer14(p.V654Sfs*14) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | splice_acceptor_variant |
| Transcription ID | ENST00000267163 |
| Start | 48348954:48348954(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.540-2A>T |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000267163 |
| Start | 48379652:48379652(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1389+2T>C |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | splice_acceptor_variant |
| Transcription ID | ENST00000267163 |
| Start | 48376917:48376917(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587778831 |
| CDS Mutation | c.1216-1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |