| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366559 |
| Start |
241590042:241590043(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1134dupT |
| AA Mutation |
p.Gln379SerfsTer32(p.Q379Sfs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000366559 |
| Start |
241560726:241560728(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.423_425delAGA |
| AA Mutation |
p.Glu143del(p.E143del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KMO
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366559 |
| Start |
241590048:241590048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1135C>G |
| AA Mutation |
p.Gln379Glu(p.Q379E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366559 |
| Start |
241549707:241549707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.155G>T |
| AA Mutation |
p.Arg52Ile(p.R52I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366559 |
| Start |
241586706:241586706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.985G>A |
| AA Mutation |
p.Glu329Lys(p.E329K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366559 |
| Start |
241562286:241562286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.569T>C |
| AA Mutation |
p.Ile190Thr(p.I190T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366559 |
| Start |
241562220:241562220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.503G>T |
| AA Mutation |
p.Gly168Val(p.G168V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366559 |
| Start |
241588797:241588797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566876281
|
| CDS Mutation |
c.1065G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366559 |
| Start |
241590089:241590089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765439070
|
| CDS Mutation |
c.1176G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366559 |
| Start |
241590256:241590256(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1259delA |
| AA Mutation |
p.Lys420ArgfsTer2(p.K420Rfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366559 |
| Start |
241562219:241562219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.502G>T |
| AA Mutation |
p.Gly168Ter(p.G168*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|