| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355385 |
| Start |
113274468:113274468(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1332delG |
| AA Mutation |
p.Gln445AsnfsTer66(p.Q445Nfs*66) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000355385 |
| Start |
113286677:113286677(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3164delC |
| AA Mutation |
p.Pro1055HisfsTer20(p.P1055Hfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BOC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355385 |
| Start |
113274677:113274677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1537C>T |
| AA Mutation |
p.Arg513Cys(p.R513C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355385 |
| Start |
113286758:113286758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3241C>A |
| AA Mutation |
p.Pro1081Thr(p.P1081T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355385 |
| Start |
113250586:113250586(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752378926
|
| CDS Mutation |
c.129G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355385 |
| Start |
113279430:113279430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149565679
|
| CDS Mutation |
c.1995C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|