| ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367549 |
| Start |
182866998:182866998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1512A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367549 |
| Start |
182843428:182843428(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.249delT |
| AA Mutation |
p.Phe83LeufsTer3(p.F83Lfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367549 |
| Start |
182859097:182859097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1120C>T |
| AA Mutation |
p.Gln374Ter(p.Q374*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |