| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000284273 |
| Start |
122797035:122797035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1357+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000284273 |
| Start |
122809747:122809747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1813-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UBASH3B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284273 |
| Start |
122808093:122808093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777116957
|
| CDS Mutation |
c.1729G>A |
| AA Mutation |
p.Ala577Thr(p.A577T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284273 |
| Start |
122794769:122794769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1048C>T |
| AA Mutation |
p.Arg350Trp(p.R350W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284273 |
| Start |
122808078:122808078(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1714C>A |
| AA Mutation |
p.Leu572Met(p.L572M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000284273 |
| Start |
122777141:122777141(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs544133374
|
| CDS Mutation |
c.333G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000284273 |
| Start |
122809853:122809853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1917C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|