| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000381501 |
| Start |
48167920:48167920(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.529G>T |
| AA Mutation |
p.Glu177Ter(p.E177*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000381501 |
| Start |
48167954:48167954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.496-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TEC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381501 |
| Start |
48163739:48163739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750190240
|
| CDS Mutation |
c.700G>A |
| AA Mutation |
p.Val234Ile(p.V234I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381501 |
| Start |
48170291:48170291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.411A>C |
| AA Mutation |
p.Glu137Asp(p.E137D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000381501 |
| Start |
48149682:48149682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.881C>A |
| AA Mutation |
p.Ser294Ter(p.S294*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|