| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310836 |
| Start |
114623432:114623433(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.554_555delCA |
| AA Mutation |
p.Thr185ArgfsTer31(p.T185Rfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000310836 |
| Start |
114623435:114623436(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.555_556insTATCATTAG |
| AA Mutation |
p.Thr185_Asp186insTyrHisTer(p.T185_D186insYH*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UGT8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310836 |
| Start |
114623362:114623362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.482G>A |
| AA Mutation |
p.Gly161Asp(p.G161D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310836 |
| Start |
114675990:114675990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1328G>A |
| AA Mutation |
p.Arg443Gln(p.R443Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310836 |
| Start |
114623184:114623184(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.304G>A |
| AA Mutation |
p.Glu102Lys(p.E102K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310836 |
| Start |
114676251:114676251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1589G>T |
| AA Mutation |
p.Arg530Ile(p.R530I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310836 |
| Start |
114622955:114622955(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375443200
|
| CDS Mutation |
c.75C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|