| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354667 |
| Start |
26196905:26196906(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.412dupA |
| AA Mutation |
p.Ile138AsnfsTer2(p.I138Nfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000354667 |
| Start |
26193696:26193696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.758-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000354667 |
| Start |
26196814:26196815(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.501_503dupTAA |
| AA Mutation |
p.Asp167_Lys168insAsn(p.D167_K168insN) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |