| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380338 |
| Start |
20413991:20413991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146067491
|
| CDS Mutation |
c.855G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380338 |
| Start |
20413954:20413954(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.892delA |
| AA Mutation |
p.Arg298GlyfsTer19(p.R298Gfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000380338 |
| Start |
20456717:20456722(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.258_263delAGTTTA |
| AA Mutation |
p.Glu86_Tyr88delinsAsp(p.E86_Y88delinsD) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |