| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296953 |
| Start |
173090884:173090884(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.710delA |
| AA Mutation |
p.Lys237ArgfsTer4(p.K237Rfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296953 |
| Start |
173086513:173086513(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.22G>T |
| AA Mutation |
p.Gly8Ter(p.G8*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296953 |
| Start |
173110580:173110581(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1482dupA |
| AA Mutation |
p.Leu495ThrfsTer7(p.L495Tfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |