| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000216733 |
| Start |
23359743:23359743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753273905
|
| CDS Mutation |
c.735C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000216733 |
| Start |
23359738:23359738(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.740delG |
| AA Mutation |
p.Gly247AlafsTer140(p.G247Afs*140) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EFS
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216733 |
| Start |
23359910:23359910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.568G>A |
| AA Mutation |
p.Val190Met(p.V190M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000216733 |
| Start |
23365007:23365007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.18+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|