| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262878 |
| Start |
36897834:36897834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1734C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262878 |
| Start |
36893026:36893026(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1787delA |
| AA Mutation |
p.Lys596ArgfsTer35(p.K596Rfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SAMHD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262878 |
| Start |
36916988:36916988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.914G>T |
| AA Mutation |
p.Arg305Ile(p.R305I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262878 |
| Start |
36946787:36946787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141599277
|
| CDS Mutation |
c.226G>A |
| AA Mutation |
p.Ala76Thr(p.A76T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262878 |
| Start |
36916997:36916997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.905C>A |
| AA Mutation |
p.Ser302Tyr(p.S302Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|