| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375076 |
| Start |
32181188:32181198(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1160_1170delAACTGAATCAG |
| AA Mutation |
p.Glu387ValfsTer5(p.E387Vfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375076 |
| Start |
32182365:32182365(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.846delC |
| AA Mutation |
p.Ser283AlafsTer4(p.S283Afs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375076 |
| Start |
32182382:32182383(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.827_828dupTG |
| AA Mutation |
p.Pro277CysfsTer11(p.P277Cfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |