| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258428 |
| Start |
99438640:99438640(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1174delA |
| AA Mutation |
p.Met392Ter(p.M392*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258428 |
| Start |
99438639:99438640(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1174dupA |
| AA Mutation |
p.Met392AsnfsTer12(p.M392Nfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> REV1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258428 |
| Start |
99421598:99421598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139974413
|
| CDS Mutation |
c.1732G>A |
| AA Mutation |
p.Glu578Lys(p.E578K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258428 |
| Start |
99435854:99435854(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148052685
|
| CDS Mutation |
c.1301G>A |
| AA Mutation |
p.Arg434Gln(p.R434Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258428 |
| Start |
99403751:99403751(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3110A>C |
| AA Mutation |
p.Asp1037Ala(p.D1037A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258428 |
| Start |
99421547:99421547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs560500168
|
| CDS Mutation |
c.1783C>T |
| AA Mutation |
p.Arg595Cys(p.R595C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258428 |
| Start |
99462576:99462576(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146592953
|
| CDS Mutation |
c.101G>A |
| AA Mutation |
p.Arg34Gln(p.R34Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258428 |
| Start |
99402943:99402943(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3330G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258428 |
| Start |
99406485:99406485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2454G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000258428 |
| Start |
99410741:99410741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2299G>T |
| AA Mutation |
p.Glu767Ter(p.E767*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|