| Mutation ID |
21 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000402696 |
| Start |
133777048:133777048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1873-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000402696 |
| Start |
133756338:133756338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113667645
|
| CDS Mutation |
c.691+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TF
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402696 |
| Start |
133753605:133753605(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs41298977
|
| CDS Mutation |
c.227C>T |
| AA Mutation |
p.Ala76Val(p.A76V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000402696 |
| Start |
133756832:133756832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.693G>T |
| AA Mutation |
p.Glu231Asp(p.E231D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000402696 |
| Start |
133764232:133764232(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148459932
|
| CDS Mutation |
c.1254G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000402696 |
| Start |
133777177:133777177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2001A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000402696 |
| Start |
133775590:133775590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142894328
|
| CDS Mutation |
c.1845C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000402696 |
| Start |
133775527:133775527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778400078
|
| CDS Mutation |
c.1782G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000402696 |
| Start |
133766304:133766304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1357A>T |
| AA Mutation |
p.Lys453Ter(p.K453*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000402696 |
| Start |
133757796:133757796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.898G>T |
| AA Mutation |
p.Glu300Ter(p.E300*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|