| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320393 |
| Start |
80167736:80167736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759881863
|
| CDS Mutation |
c.402C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000320393 |
| Start |
80127549:80127549(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.199delC |
| AA Mutation |
p.Gln67LysfsTer5(p.Q67Kfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BCKDHB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320393 |
| Start |
80200981:80200981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.790G>A |
| AA Mutation |
p.Glu264Lys(p.E264K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|