| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377602 |
| Start |
17321250:17321250(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.825delC |
| AA Mutation |
p.Asn276ThrfsTer29(p.N276Tfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377602 |
| Start |
17331545:17331545(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.385delC |
| AA Mutation |
p.Ala130LeufsTer23(p.A130Lfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377602 |
| Start |
17359547:17359547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.344G>A |
| AA Mutation |
p.Trp115Ter(p.W115*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |