| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000245960 |
| Start |
3801334:3801334(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.790delG |
| AA Mutation |
p.Asp264IlefsTer12(p.D264Ifs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000245960 |
| Start |
3801947:3801947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.945C>A |
| AA Mutation |
p.Cys315Ter(p.C315*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000245960 |
| Start |
3800286:3800286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.381-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |