| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342136 |
| Start |
33248800:33248801(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.487_488delCA |
| AA Mutation |
p.Gln163ValfsTer2(p.Q163Vfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342136 |
| Start |
33260638:33260638(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.755delT |
| AA Mutation |
p.Leu252Ter(p.L252*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000342136 |
| Start |
33263422:33263422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1470G>A |
| AA Mutation |
p.Trp490Ter(p.W490*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |