| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344529 |
| Start |
172442376:172442376(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.247delC |
| AA Mutation |
p.His83IlefsTer4(p.H83Ifs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344529 |
| Start |
172442419:172442419(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.204delT |
| AA Mutation |
p.Phe68LeufsTer19(p.F68Lfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344529 |
| Start |
172442130:172442131(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.492dupT |
| AA Mutation |
p.Asp165Ter(p.D165*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |