| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000337138 |
| Start |
61732449:61732449(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.805G>T |
| AA Mutation |
p.Glu269Ter(p.E269*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000337138 |
| Start |
61720452:61720453(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.112dupT |
| AA Mutation |
p.Tyr38LeufsTer2(p.Y38Lfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HIF1A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337138 |
| Start |
61727616:61727616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.734G>A |
| AA Mutation |
p.Arg245Gln(p.R245Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337138 |
| Start |
61732476:61732476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.832T>A |
| AA Mutation |
p.Tyr278Asn(p.Y278N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337138 |
| Start |
61738158:61738158(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774190899
|
| CDS Mutation |
c.1321G>A |
| AA Mutation |
p.Glu441Lys(p.E441K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000337138 |
| Start |
61720404:61720404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.58G>T |
| AA Mutation |
p.Glu20Ter(p.E20*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000337138 |
| Start |
61720443:61720443(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.97G>T |
| AA Mutation |
p.Glu33Ter(p.E33*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000337138 |
| Start |
61740841:61740842(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1746_1747insAC |
| AA Mutation |
p.Leu583ThrfsTer2(p.L583Tfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000337138 |
| Start |
61747085:61747085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2481A>C |
| AA Mutation |
p.Ter827CysextTer4(p.*827Cext*4) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
|