| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330540 |
| Start |
122109366:122109366(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.807delA |
| AA Mutation |
p.Lys269AsnfsTer63(p.K269Nfs*63) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330540 |
| Start |
122119482:122119482(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.942delT |
| AA Mutation |
p.Phe314LeufsTer18(p.F314Lfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000330540 |
| Start |
122119439:122119440(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.901dupA |
| AA Mutation |
p.Ile301AsnfsTer5(p.I301Nfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |