| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358595 |
| Start |
150812033:150812033(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2358delC |
| AA Mutation |
p.Ser788GlnfsTer21(p.S788Qfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358595 |
| Start |
150816807:150816807(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1783delC |
| AA Mutation |
p.Arg595GlyfsTer11(p.R595Gfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358595 |
| Start |
150812062:150812062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2329G>T |
| AA Mutation |
p.Glu777Ter(p.E777*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |