| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000283921 |
| Start |
27174218:27174218(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.89delT |
| AA Mutation |
p.Leu30TrpfsTer74(p.L30Wfs*74) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000283921 |
| Start |
27174155:27174155(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.152delG |
| AA Mutation |
p.Gly51AlafsTer53(p.G51Afs*53) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000283921 |
| Start |
27173359:27173361(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.946_948delAAG |
| AA Mutation |
p.Lys316del(p.K316del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |