| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265651 |
| Start |
33770758:33770758(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.177delA |
| AA Mutation |
p.Lys59AsnfsTer4(p.K59Nfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant;stop_lost |
| Transcription ID |
ENST00000265651 |
| Start |
33741910:33741910(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1414delT |
| AA Mutation |
p.Ter472Ser(p.*472S) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265651 |
| Start |
33750645:33750645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.826G>T |
| AA Mutation |
p.Glu276Ter(p.E276*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |