Primary Site >> Liver Cancer
Gene >> COL4A1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000375820 |
| Start | 110179378:110179378(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2237G>C |
| AA Mutation | p.Gly746Ala(p.G746A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000375820 |
| Start | 110183066:110183066(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs755517991 |
| CDS Mutation | c.2022G>C |
| AA Mutation | p.Arg674Ser(p.R674S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000375820 |
| Start | 110182999:110182999(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2089C>T |
| AA Mutation | p.Pro697Ser(p.P697S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000375820 |
| Start | 110170633:110170633(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3656G>T |
| AA Mutation | p.Gly1219Val(p.G1219V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000375820 |
| Start | 110152355:110152355(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs201012509 |
| CDS Mutation | c.4907T>C |
| AA Mutation | p.Ile1636Thr(p.I1636T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000375820 |
| Start | 110212445:110212445(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.359delC |
| AA Mutation | p.Pro120GlnfsTer36(p.P120Qfs*36) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000375820 |
| Start | 110155305:110155305(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4733G>A |
| AA Mutation | p.Trp1578Ter(p.W1578*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |