Primary Site >> Esophagus Cancer
Gene >> COL4A4
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000396625 |
| Start | 227056032:227056032(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs55948916 |
| CDS Mutation | c.2629C>T |
| AA Mutation | p.Arg877Trp(p.R877W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000396625 |
| Start | 227032221:227032221(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3633G>C |
| AA Mutation | p.Glu1211Asp(p.E1211D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000396625 |
| Start | 227121120:227121120(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.221G>C |
| AA Mutation | p.Gly74Ala(p.G74A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000396625 |
| Start | 227008148:227008148(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs747362746 |
| CDS Mutation | c.4679G>A |
| AA Mutation | p.Arg1560His(p.R1560H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000396625 |
| Start | 227108610:227108610(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs762358388 |
| CDS Mutation | c.706G>A |
| AA Mutation | p.Val236Met(p.V236M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000396625 |
| Start | 227008036:227008036(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs752585800 |
| CDS Mutation | c.4791C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000396625 |
| Start | 227118703:227118703(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.431C>A |
| AA Mutation | p.Ser144Ter(p.S144*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |