| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000331710 |
| Start |
64490083:64490083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771930992
|
| CDS Mutation |
c.1485A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000331710 |
| Start |
64481921:64481921(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.897delT |
| AA Mutation |
p.Phe299LeufsTer12(p.F299Lfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000331710 |
| Start |
64484379:64484379(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1069C>T |
| AA Mutation |
p.Arg357Ter(p.R357*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |