| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309575 |
| Start |
143121534:143121534(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.723delG |
| AA Mutation |
p.Arg242AlafsTer60(p.R242Afs*60) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309575 |
| Start |
143121533:143121534(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs766570662
|
| CDS Mutation |
c.723dupG |
| AA Mutation |
p.Arg242AlafsTer92(p.R242Afs*92) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHST2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309575 |
| Start |
143122120:143122120(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1304C>G |
| AA Mutation |
p.Thr435Arg(p.T435R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309575 |
| Start |
143121357:143121357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.541G>A |
| AA Mutation |
p.Gly181Ser(p.G181S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309575 |
| Start |
143122125:143122125(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1309C>T |
| AA Mutation |
p.Arg437Trp(p.R437W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309575 |
| Start |
143121743:143121743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.927C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000309575 |
| Start |
143122128:143122128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1312A>T |
| AA Mutation |
p.Arg438Ter(p.R438*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|