| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000521861 |
| Start |
116646547:116646547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770749973
|
| CDS Mutation |
c.885G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000521861 |
| Start |
116657225:116657225(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.547delT |
| AA Mutation |
p.Ser183ProfsTer5(p.S183Pfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EIF3H
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000521861 |
| Start |
116658930:116658930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367787019
|
| CDS Mutation |
c.340C>T |
| AA Mutation |
p.His114Tyr(p.H114Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000521861 |
| Start |
116658956:116658956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.314G>A |
| AA Mutation |
p.Arg105Gln(p.R105Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000521861 |
| Start |
116648824:116648824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.810A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000521861 |
| Start |
116657237:116657237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.535G>T |
| AA Mutation |
p.Glu179Ter(p.E179*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|