Gene >> HSD11B1
| ID |
1 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367027 |
| Start |
209705911:209705911(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.189delG |
| AA Mutation |
p.Thr64GlnfsTer33(p.T64Qfs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367027 |
| Start |
209705893:209705894(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.174_187dupAGCCCATGTGGTGG |
| AA Mutation |
p.Val63GlufsTer6(p.V63Efs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |