| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000326172 |
| Start |
101853525:101853525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.999G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326172 |
| Start |
101853514:101853514(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.989delC |
| AA Mutation |
p.Pro330GlnfsTer11(p.P330Qfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326172 |
| Start |
101852184:101852185(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.390_391delTA |
| AA Mutation |
p.His130GlnfsTer11(p.H130Qfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |