| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344691 |
| Start |
34834431:34834431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.703C>T |
| AA Mutation |
p.Gln235Ter(p.Q235*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000344691 |
| Start |
34834602:34834602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.533-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RUNX1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000344691 |
| Start |
34859476:34859476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.530G>A |
| AA Mutation |
p.Arg177Gln(p.R177Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344691 |
| Start |
34859517:34859523(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.483_489delCTACCAC |
| AA Mutation |
p.Tyr162GlufsTer20(p.Y162Efs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344691 |
| Start |
34799310:34799310(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.877C>T |
| AA Mutation |
p.Arg293Ter(p.R293*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|