| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000258499 |
| Start |
95533737:95533737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.520A>T |
| AA Mutation |
p.Lys174Ter(p.K174*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258499 |
| Start |
95533706:95533707(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.550dupA |
| AA Mutation |
p.Ile184AsnfsTer19(p.I184Nfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> USP44
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258499 |
| Start |
95533428:95533428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.829A>C |
| AA Mutation |
p.Asn277His(p.N277H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258499 |
| Start |
95533961:95533961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778973722
|
| CDS Mutation |
c.296G>A |
| AA Mutation |
p.Arg99Gln(p.R99Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258499 |
| Start |
95533395:95533395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.862C>A |
| AA Mutation |
p.Leu288Ile(p.L288I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258499 |
| Start |
95533675:95533675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.582G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|