| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273783 |
| Start |
184136636:184136636(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113994046
|
| CDS Mutation |
c.220G>A |
| AA Mutation |
p.Ala74Thr(p.A74T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000273783 |
| Start |
184143504:184143505(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1813dupC |
| AA Mutation |
p.Leu605ProfsTer9(p.L605Pfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EIF2B5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273783 |
| Start |
184144145:184144145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1916C>G |
| AA Mutation |
p.Ala639Gly(p.A639G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273783 |
| Start |
184136694:184136694(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746008885
|
| CDS Mutation |
c.278T>C |
| AA Mutation |
p.Val93Ala(p.V93A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273783 |
| Start |
184144694:184144694(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs543846542
|
| CDS Mutation |
c.2093G>A |
| AA Mutation |
p.Arg698His(p.R698H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|