| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244217 |
| Start |
71110082:71110082(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs776473131
|
| CDS Mutation |
c.419delA |
| AA Mutation |
p.Lys140ArgfsTer6(p.K140Rfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244217 |
| Start |
71124535:71124535(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.49delT |
| AA Mutation |
p.Ser17ProfsTer10(p.S17Pfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244217 |
| Start |
71124534:71124535(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.49dupT |
| AA Mutation |
p.Ser17PhefsTer50(p.S17Ffs*50) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |