| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295743 |
| Start |
27717207:27717207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768922132
|
| CDS Mutation |
c.1924C>T |
| AA Mutation |
p.Arg642Ter(p.R642*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27720211:27720212(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.995dupG |
| AA Mutation |
p.Lys333GlnfsTer11(p.K333Qfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EOMES
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27718824:27718824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371656694
|
| CDS Mutation |
c.1228G>A |
| AA Mutation |
p.Val410Met(p.V410M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27718589:27718589(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1377T>G |
| AA Mutation |
p.Asp459Glu(p.D459E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27717508:27717508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1623T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|