Primary Site >> Liver Cancer
Gene >> COL18A1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359759 |
| Start | 45468403:45468403(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs778941505 |
| CDS Mutation | c.1513C>T |
| AA Mutation | p.Arg505Cys(p.R505C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359759 |
| Start | 45468440:45468440(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1550C>T |
| AA Mutation | p.Thr517Ile(p.T517I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359759 |
| Start | 45490862:45490862(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3303G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000359759 |
| Start | 45505385:45505401(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.4290_4306delTGGGCCCCCTGGGCCCC |
| AA Mutation | p.Gly1431TrpfsTer65(p.G1431Wfs*65) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000359759 |
| Start | 45455549:45455558(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.19_28delGGCTGCCACA |
| AA Mutation | p.Gly7SerfsTer17(p.G7Sfs*17) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | splice_acceptor_variant |
| Transcription ID | ENST00000359759 |
| Start | 45491223:45491223(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3313-2A>T |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000359759 |
| Start | 45492565:45492565(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3432+1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | inframe_deletion |
| Transcription ID | ENST00000359759 |
| Start | 45468666:45468683(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1777_1794delGTGGACTGTGAGGAGTTC |
| AA Mutation | p.Val593_Phe598del(p.V593_F598del) |
| Mutation Classification | In_Frame_Del |
| Feature Type | Transcript |