| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000287322 |
| Start |
38210477:38210477(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1365delA |
| AA Mutation |
p.Gly456AspfsTer6(p.G456Dfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000287322 |
| Start |
38209238:38209238(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.863delC |
| AA Mutation |
p.Pro288LeufsTer22(p.P288Lfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000287322 |
| Start |
38210324:38210325(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1211dupA |
| AA Mutation |
p.Thr405AspfsTer23(p.T405Dfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |