| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252597 |
| Start |
17262861:17262862(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.331_332dupCC |
| AA Mutation |
p.Gly112LeufsTer16(p.G112Lfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000252597 |
| Start |
17259733:17259733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.769-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> USHBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252597 |
| Start |
17255422:17255422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1655G>A |
| AA Mutation |
p.Gly552Glu(p.G552E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252597 |
| Start |
17259692:17259692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147305519
|
| CDS Mutation |
c.809G>A |
| AA Mutation |
p.Arg270His(p.R270H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252597 |
| Start |
17259956:17259956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.709G>A |
| AA Mutation |
p.Gly237Ser(p.G237S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252597 |
| Start |
17251657:17251658(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1846_1847insGC |
| AA Mutation |
p.Glu616GlyfsTer18(p.E616Gfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|