| ID |
2 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000295666 |
| Start |
57032427:57032427(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.828delA |
| AA Mutation |
p.Gly277ValfsTer13(p.G277Vfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295666 |
| Start |
57040911:57040911(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.498delC |
| AA Mutation |
p.Lys167ArgfsTer13(p.K167Rfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295666 |
| Start |
57032492:57032492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.763G>T |
| AA Mutation |
p.Gly255Ter(p.G255*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |