| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328895 |
| Start |
68950190:68950190(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.140delA |
| AA Mutation |
p.Asn47IlefsTer38(p.N47Ifs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328895 |
| Start |
68952854:68952855(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7dupA |
| AA Mutation |
p.Ile3AsnfsTer23(p.I3Nfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000328895 |
| Start |
68947258:68947258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.205-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |