| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000534000 |
| Start |
125229197:125229197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.215G>C |
| AA Mutation |
p.Gly72Ala(p.G72A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000534000 |
| Start |
125229142:125229142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770408400
|
| CDS Mutation |
c.160C>T |
| AA Mutation |
p.Arg54Ter(p.R54*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TPD52L1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000534000 |
| Start |
125262934:125262934(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375008815
|
| CDS Mutation |
c.587G>A |
| AA Mutation |
p.Arg196Gln(p.R196Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000534000 |
| Start |
125253728:125253728(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774952793
|
| CDS Mutation |
c.398G>A |
| AA Mutation |
p.Arg133His(p.R133H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000534000 |
| Start |
125248346:125248346(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.349G>A |
| AA Mutation |
p.Val117Ile(p.V117I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|