| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368149 |
| Start |
129600802:129600802(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1412delA |
| AA Mutation |
p.Asn471IlefsTer3(p.N471Ifs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368149 |
| Start |
129580093:129580093(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1877delT |
| AA Mutation |
p.Leu626CysfsTer19(p.L626Cfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368149 |
| Start |
129616288:129616289(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.967dupT |
| AA Mutation |
p.Cys323LeufsTer32(p.C323Lfs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |