| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31362665:31362665(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1276delC |
| AA Mutation |
p.Arg426AlafsTer20(p.R426Afs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31356639:31356639(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.163delC |
| AA Mutation |
p.Gln55LysfsTer3(p.Q55Kfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITGAX
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31359782:31359782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.513G>T |
| AA Mutation |
p.Met171Ile(p.M171I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31371783:31371783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200637041
|
| CDS Mutation |
c.2159C>T |
| AA Mutation |
p.Pro720Leu(p.P720L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31360049:31360049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200320931
|
| CDS Mutation |
c.691G>A |
| AA Mutation |
p.Ala231Thr(p.A231T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31361085:31361085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.884G>T |
| AA Mutation |
p.Arg295Ile(p.R295I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31377067:31377067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2693C>G |
| AA Mutation |
p.Ala898Gly(p.A898G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000268296 |
| Start |
31357277:31357277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.343G>T |
| AA Mutation |
p.Glu115Ter(p.E115*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|