| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000430430 |
| Start |
80500008:80500008(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1492delA |
| AA Mutation |
p.Ile498LeufsTer17(p.I498Lfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000430430 |
| Start |
80487637:80487637(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.830delA |
| AA Mutation |
p.Lys277ArgfsTer32(p.K277Rfs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000430430 |
| Start |
80487607:80487608(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.799_801dupACT |
| AA Mutation |
p.Thr267dup(p.T267dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |