| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367455 |
| Start |
193049775:193049775(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.217C>T |
| AA Mutation |
p.Arg73Ter(p.R73*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367455 |
| Start |
193029411:193029412(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.410_411insTCTCCCATTA |
| AA Mutation |
p.Gln138LeufsTer16(p.Q138Lfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UCHL5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367455 |
| Start |
193016377:193016377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146351256
|
| CDS Mutation |
c.964G>A |
| AA Mutation |
p.Ala322Thr(p.A322T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367455 |
| Start |
193029393:193029393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375167412
|
| CDS Mutation |
c.429C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|