| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000559488 |
| Start |
47300507:47300507(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1946delG |
| AA Mutation |
p.Gly649GlufsTer20(p.G649Efs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000559488 |
| Start |
47274439:47274439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs75427428
|
| CDS Mutation |
c.100C>T |
| AA Mutation |
p.Arg34Ter(p.R34*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITGB3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000559488 |
| Start |
47307585:47307585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142117362
|
| CDS Mutation |
c.2249G>A |
| AA Mutation |
p.Arg750Gln(p.R750Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000559488 |
| Start |
47283392:47283392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.204G>T |
| AA Mutation |
p.Glu68Asp(p.E68D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000559488 |
| Start |
47307584:47307584(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121918450
|
| CDS Mutation |
c.2248C>T |
| AA Mutation |
p.Arg750Ter(p.R750*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|