| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379834 |
| Start |
7414384:7414385(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1596dupA |
| AA Mutation |
p.Glu533ArgfsTer20(p.E533Rfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000379834 |
| Start |
7393214:7393215(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs764932797
|
| CDS Mutation |
c.189_191dupTGA |
| AA Mutation |
p.Asp69dup(p.D69dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RIOK1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379834 |
| Start |
7400981:7400981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.504G>T |
| AA Mutation |
p.Met168Ile(p.M168I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379834 |
| Start |
7402821:7402821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138314843
|
| CDS Mutation |
c.691C>T |
| AA Mutation |
p.Arg231Cys(p.R231C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|