| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379375 |
| Start |
12296011:12296011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.583C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379375 |
| Start |
12294070:12294070(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.367delT |
| AA Mutation |
p.Cys123AlafsTer38(p.C123Afs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379375 |
| Start |
12292467:12292468(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.192_193delCT |
| AA Mutation |
p.Tyr65LeufsTer24(p.Y65Lfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |