| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316355 |
| Start |
77161733:77161733(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.696delA |
| AA Mutation |
p.Lys232AsnfsTer21(p.K232Nfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316355 |
| Start |
77160874:77160875(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.430_431insACAAGAGGCT |
| AA Mutation |
p.Ile144AsnfsTer12(p.I144Nfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316355 |
| Start |
77160811:77160812(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.368dupA |
| AA Mutation |
p.His123GlnfsTer2(p.H123Qfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |