Primary Site >> Liver Cancer
Gene >> COL3A1
| ID | 1 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000304636 |
| Start | 188994592:188994592(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1345C>T |
| AA Mutation | p.Arg449Cys(p.R449C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000304636 |
| Start | 189008984:189008984(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3586T>C |
| AA Mutation | p.Cys1196Arg(p.C1196R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000304636 |
| Start | 189005364:189005364(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2946A>T |
| AA Mutation | p.Lys982Asn(p.K982N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000304636 |
| Start | 189006944:189006944(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3209C>A |
| AA Mutation | p.Ala1070Asp(p.A1070D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000304636 |
| Start | 189008979:189008979(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3581G>A |
| AA Mutation | p.Gly1194Asp(p.G1194D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000304636 |
| Start | 189010709:189010709(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs745656610 |
| CDS Mutation | c.4073G>A |
| AA Mutation | p.Arg1358Gln(p.R1358Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000304636 |
| Start | 188985711:188985711(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.380G>C |
| AA Mutation | p.Gly127Ala(p.G127A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000304636 |
| Start | 188997212:188997212(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1809C>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000304636 |
| Start | 188999559:188999559(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2211T>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000304636 |
| Start | 188991507:188991507(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs138569287 |
| CDS Mutation | c.873C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |