Primary Site >> Esophagus Cancer
Gene >> SOX10
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000360880 |
| Start | 37978113:37978113(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.451C>G |
| AA Mutation | p.Arg151Gly(p.R151G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000360880 |
| Start | 37983475:37983475(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs752595410 |
| CDS Mutation | c.310G>A |
| AA Mutation | p.Val104Ile(p.V104I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000360880 |
| Start | 37977964:37977964(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs143057951 |
| CDS Mutation | c.600C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000360880 |
| Start | 37977875:37977876(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.648_688dupCCCAGGAGAGGGCTCCCCCATGTCAGATGGGAACCCCGAGC |
| AA Mutation | p.His230ProfsTer70(p.H230Pfs*70) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |