| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341590 |
| Start |
52919346:52919346(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.168delA |
| AA Mutation |
p.Asp57IlefsTer17(p.D57Ifs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000341590 |
| Start |
52864762:52864762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1365G>A |
| AA Mutation |
p.Trp455Ter(p.W455*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341590 |
| Start |
52919345:52919346(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.168dupA |
| AA Mutation |
p.Asp57ArgfsTer4(p.D57Rfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |