| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000342702 |
| Start |
102195094:102195094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.406G>T |
| AA Mutation |
p.Glu136Ter(p.E136*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342702 |
| Start |
102208729:102208730(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.565dupC |
| AA Mutation |
p.His189ProfsTer27(p.H189Pfs*27) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342702 |
| Start |
102208966:102208967(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.805_806dupTG |
| AA Mutation |
p.Trp270AlafsTer10(p.W270Afs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |