| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000333360 |
| Start |
169728214:169728214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759220052
|
| CDS Mutation |
c.1123C>T |
| AA Mutation |
p.Arg375Ter(p.R375*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000333360 |
| Start |
169731944:169731944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.422-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SELE
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333360 |
| Start |
169725919:169725919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1763T>G |
| AA Mutation |
p.Phe588Cys(p.F588C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333360 |
| Start |
169733594:169733594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.19C>A |
| AA Mutation |
p.Leu7Ile(p.L7I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333360 |
| Start |
169726729:169726729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1723C>A |
| AA Mutation |
p.Leu575Ile(p.L575I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333360 |
| Start |
169729317:169729317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.959C>T |
| AA Mutation |
p.Ser320Phe(p.S320F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|