| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379638 |
| Start |
112887155:112887155(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.380delC |
| AA Mutation |
p.Pro127ArgfsTer20(p.P127Rfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000379638 |
| Start |
112922123:112922125(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.66_68delTCT |
| AA Mutation |
p.Leu23del(p.L23del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> REEP5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379638 |
| Start |
112887119:112887119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138223212
|
| CDS Mutation |
c.416G>A |
| AA Mutation |
p.Arg139His(p.R139H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|