| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295025 |
| Start |
60901069:60901070(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.383_384insACATATAGCAA |
| AA Mutation |
p.Asn128LysfsTer14(p.N128Kfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000295025 |
| Start |
60917018:60917018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.535+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> REL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295025 |
| Start |
60922459:60922459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770726535
|
| CDS Mutation |
c.1784G>A |
| AA Mutation |
p.Ser595Asn(p.S595N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295025 |
| Start |
60920048:60920048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765395827
|
| CDS Mutation |
c.861C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295025 |
| Start |
60901038:60901038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.349G>T |
| AA Mutation |
p.Glu117Ter(p.E117*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|