| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257248 |
| Start |
59842540:59842540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.414G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257248 |
| Start |
59837192:59837192(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.853delC |
| AA Mutation |
p.Gln285ArgfsTer34(p.Q285Rfs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GIF
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257248 |
| Start |
59831705:59831705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1165C>A |
| AA Mutation |
p.Leu389Ile(p.L389I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257248 |
| Start |
59842541:59842541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776516305
|
| CDS Mutation |
c.413C>T |
| AA Mutation |
p.Ala138Val(p.A138V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257248 |
| Start |
59841183:59841183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.653G>A |
| AA Mutation |
p.Gly218Asp(p.G218D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|