| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369485 |
| Start |
88612739:88612739(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1774delA |
| AA Mutation |
p.Arg592AspfsTer5(p.R592Dfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369485 |
| Start |
88844440:88844440(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1186delA |
| AA Mutation |
p.Met396Ter(p.M396*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369485 |
| Start |
88844378:88844378(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1248delT |
| AA Mutation |
p.Phe416LeufsTer18(p.F416Lfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |