| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000345122 |
| Start |
32154681:32154681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4242G>A |
| AA Mutation |
p.Trp1414Ter(p.W1414*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000345122 |
| Start |
32090859:32090859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.190G>T |
| AA Mutation |
p.Gly64Ter(p.G64*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000345122 |
| Start |
32093338:32093339(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2676dupT |
| AA Mutation |
p.Glu893Ter(p.E893*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |