| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000003100 |
| Start |
92123208:92123208(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.998delT |
| AA Mutation |
p.Leu333TrpfsTer13(p.L333Wfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000003100 |
| Start |
92123780:92123780(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.844G>T |
| AA Mutation |
p.Glu282Ter(p.E282*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP51A1
| Mutation ID |
1 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000003100 |
| Start |
92118579:92118579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1123G>T |
| AA Mutation |
p.Glu375Ter(p.E375*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|