| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368547 |
| Start |
133370696:133370699(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.147_150delGATC |
| AA Mutation |
p.Leu49PhefsTer3(p.L49Ffs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368547 |
| Start |
133364720:133364720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.745G>T |
| AA Mutation |
p.Glu249Ter(p.E249*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ECHS1
| Mutation ID |
1 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368547 |
| Start |
133366029:133366030(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.685dupA |
| AA Mutation |
p.Ile229AsnfsTer6(p.I229Nfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|