| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000224784 |
| Start |
88939538:88939538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.777C>A |
| AA Mutation |
p.Cys259Ter(p.C259*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000224784 |
| Start |
88935291:88935292(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1065_1066insTGCTAGAGA |
| AA Mutation |
p.Gln355_Gln356insCysTerArg(p.Q355_Q356insC*R) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ACTA2
| Mutation ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000224784 |
| Start |
88941239:88941239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143771352
|
| CDS Mutation |
c.606C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000224784 |
| Start |
88938111:88938111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.940C>T |
| AA Mutation |
p.Arg314Ter(p.R314*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|