| Mutation ID |
23 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000259253 |
| Start |
128129161:128129162(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1359_1360insAAA |
| AA Mutation |
p.Ile453_Arg454insLys(p.I453_R454insK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000259253 |
| Start |
128187602:128187603(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4630_4631insACACTT |
| AA Mutation |
p.Pro1544delinsHisThrSer(p.P1544delinsHTS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UGGT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259253 |
| Start |
128176827:128176827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3553G>A |
| AA Mutation |
p.Asp1185Asn(p.D1185N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259253 |
| Start |
128161165:128161165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2722C>T |
| AA Mutation |
p.Leu908Phe(p.L908F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259253 |
| Start |
128138793:128138793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1660G>A |
| AA Mutation |
p.Ala554Thr(p.A554T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259253 |
| Start |
128161252:128161252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750253179
|
| CDS Mutation |
c.2809C>T |
| AA Mutation |
p.Arg937Trp(p.R937W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259253 |
| Start |
128171260:128171260(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3080A>C |
| AA Mutation |
p.Lys1027Thr(p.K1027T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259253 |
| Start |
128173845:128173845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3359A>C |
| AA Mutation |
p.Asp1120Ala(p.D1120A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259253 |
| Start |
128143161:128143161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1787A>C |
| AA Mutation |
p.Lys596Thr(p.K596T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|