| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000614987 |
| Start |
90900145:90900145(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1342delA |
| AA Mutation |
p.Ser448ValfsTer9(p.S448Vfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000614987 |
| Start |
90978359:90978359(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.341delT |
| AA Mutation |
p.Leu114TrpfsTer2(p.L114Wfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000614987 |
| Start |
90902937:90902937(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.990delA |
| AA Mutation |
p.Val331CysfsTer13(p.V331Cfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |