| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380649 |
| Start |
26236874:26236875(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.294dupT |
| AA Mutation |
p.Ile99TyrfsTer5(p.I99Yfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000380649 |
| Start |
26191322:26191323(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2219_2220insCTCTGT |
| AA Mutation |
p.Tyr740_Gly741insSerVal(p.Y740_G741insSV) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HADHA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380649 |
| Start |
26191618:26191618(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2011G>A |
| AA Mutation |
p.Glu671Lys(p.E671K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380649 |
| Start |
26234296:26234296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.374G>T |
| AA Mutation |
p.Arg125Ile(p.R125I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380649 |
| Start |
26194633:26194633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1626A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380649 |
| Start |
26209862:26209862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1003G>T |
| AA Mutation |
p.Glu335Ter(p.E335*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|