| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262741 |
| Start |
46066062:46066062(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.613delA |
| AA Mutation |
p.Thr205HisfsTer7(p.T205Hfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262741 |
| Start |
46045928:46045928(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1177delT |
| AA Mutation |
p.Cys393AlafsTer9(p.C393Afs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000262741 |
| Start |
46043736:46043738(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1321_1323delAAC |
| AA Mutation |
p.Asn441del(p.N441del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |