| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394657 |
| Start |
53494180:53494180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs528168629
|
| CDS Mutation |
c.668G>A |
| AA Mutation |
p.Arg223His(p.R223H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394657 |
| Start |
53494236:53494236(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.612delA |
| AA Mutation |
p.Asp205IlefsTer26(p.D205Ifs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AKTIP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394657 |
| Start |
53492419:53492419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771776966
|
| CDS Mutation |
c.872C>T |
| AA Mutation |
p.Ala291Val(p.A291V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394657 |
| Start |
53495154:53495154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.333C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|