| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377670 |
| Start |
46329238:46329238(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1476delC |
| AA Mutation |
p.Tyr493ThrfsTer57(p.Y493Tfs*57) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377670 |
| Start |
46320528:46320528(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1111C>T |
| AA Mutation |
p.Gln371Ter(p.Q371*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HIF3A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377670 |
| Start |
46308248:46308248(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.391G>T |
| AA Mutation |
p.Asp131Tyr(p.D131Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000377670 |
| Start |
46297102:46297102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.26G>T |
| AA Mutation |
p.Arg9Met(p.R9M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377670 |
| Start |
46334914:46334914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751867559
|
| CDS Mutation |
c.1840C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|