| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000520429 |
| Start |
99562849:99562849(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.132delT |
| AA Mutation |
p.Phe44LeufsTer8(p.F44Lfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000520429 |
| Start |
99549557:99549557(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.549delC |
| AA Mutation |
p.Tyr184ThrfsTer13(p.Y184Tfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000520429 |
| Start |
99550301:99550301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.447C>A |
| AA Mutation |
p.Cys149Ter(p.C149*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |