| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258149 |
| Start |
68839397:68839421(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1042_1066delTCTGAGAAAGCCAAACTGGAAAACT |
| AA Mutation |
p.Ser348GlnfsTer17(p.S348Qfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258149 |
| Start |
68839460:68839460(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1111delA |
| AA Mutation |
p.Thr371LeufsTer2(p.T371Lfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |