| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000599672 |
| Start |
6974655:6974655(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.374G>A |
| AA Mutation |
p.Arg125Gln(p.R125Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000599672 |
| Start |
6975300:6975300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.543G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EMG1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000599672 |
| Start |
6974676:6974676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.395G>A |
| AA Mutation |
p.Arg132His(p.R132H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000599672 |
| Start |
6974640:6974640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.359T>C |
| AA Mutation |
p.Val120Ala(p.V120A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000599672 |
| Start |
6975354:6975355(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.597_598insT |
| AA Mutation |
p.Val200CysfsTer22(p.V200Cfs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000599672 |
| Start |
6975355:6975356(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.599dupT |
| AA Mutation |
p.Gly201ArgfsTer21(p.G201Rfs*21) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|