| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000228606 |
| Start |
57763703:57763703(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1321delC |
| AA Mutation |
p.His441ThrfsTer33(p.H441Tfs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000228606 |
| Start |
57766870:57766871(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs763437121
|
| CDS Mutation |
c.171dupG |
| AA Mutation |
p.Leu58AlafsTer275(p.L58Afs*275) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP27B1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228606 |
| Start |
57765321:57765321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.565G>A |
| AA Mutation |
p.Glu189Lys(p.E189K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|