| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367651 |
| Start |
139373694:139373694(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs748689446
|
| CDS Mutation |
c.251delC |
| AA Mutation |
p.Pro84ArgfsTer63(p.P84Rfs*63) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367651 |
| Start |
139373417:139373417(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.528delC |
| AA Mutation |
p.Gly177AlafsTer42(p.G177Afs*42) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367651 |
| Start |
139373811:139373812(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.133dupC |
| AA Mutation |
p.Gln45ProfsTer50(p.Q45Pfs*50) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |