| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252945 |
| Start |
133532706:133532706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774432744
|
| CDS Mutation |
c.663T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252945 |
| Start |
133532751:133532751(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.713delA |
| AA Mutation |
p.Asn238MetfsTer5(p.N238Mfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP2E1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252945 |
| Start |
133537110:133537110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1015C>A |
| AA Mutation |
p.Pro339Thr(p.P339T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252945 |
| Start |
133538872:133538872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs187941410
|
| CDS Mutation |
c.1390G>A |
| AA Mutation |
p.Val464Ile(p.V464I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000252945 |
| Start |
133537077:133537077(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.982G>T |
| AA Mutation |
p.Glu328Ter(p.E328*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|