| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367755 |
| Start |
171107821:171107821(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.471delA |
| AA Mutation |
p.Glu158SerfsTer6(p.E158Sfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367755 |
| Start |
171092667:171092668(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12dupA |
| AA Mutation |
p.Val5SerfsTer28(p.V5Sfs*28) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000367755 |
| Start |
171117160:171117162(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1318_1320delTTC |
| AA Mutation |
p.Phe440del(p.F440del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |