| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379562 |
| Start |
7778891:7778891(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs769387138
|
| CDS Mutation |
c.505delA |
| AA Mutation |
p.Thr169LeufsTer9(p.T169Lfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379562 |
| Start |
7759913:7759913(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1096delT |
| AA Mutation |
p.Ser366GlnfsTer11(p.S366Qfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000379562 |
| Start |
7756143:7756143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1120-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |