| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000345125 |
| Start |
11845710:11845710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.873A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000345125 |
| Start |
11847754:11847754(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.601delG |
| AA Mutation |
p.Glu201ArgfsTer74(p.E201Rfs*74) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CTSB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000345125 |
| Start |
11845181:11845181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778494806
|
| CDS Mutation |
c.964G>A |
| AA Mutation |
p.Glu322Lys(p.E322K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000345125 |
| Start |
11847784:11847784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.571G>A |
| AA Mutation |
p.Val191Ile(p.V191I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|