| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344722 |
| Start |
160424975:160424975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2434C>T |
| AA Mutation |
p.Arg812Ter(p.R812*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344722 |
| Start |
160416372:160416373(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1394_1395insGCATACATCTT |
| AA Mutation |
p.Asp465GlufsTer32(p.D465Efs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SMC4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344722 |
| Start |
160423518:160423518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760971978
|
| CDS Mutation |
c.2113C>T |
| AA Mutation |
p.Arg705Cys(p.R705C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344722 |
| Start |
160420841:160420841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1959A>T |
| AA Mutation |
p.Glu653Asp(p.E653D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344722 |
| Start |
160402764:160402764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.407A>T |
| AA Mutation |
p.Lys136Ile(p.K136I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344722 |
| Start |
160423438:160423438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141584099
|
| CDS Mutation |
c.2033C>T |
| AA Mutation |
p.Ala678Val(p.A678V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344722 |
| Start |
160431058:160431058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2967A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344722 |
| Start |
160404457:160404457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368979205
|
| CDS Mutation |
c.640C>T |
| AA Mutation |
p.Arg214Ter(p.R214*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|