| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269385 |
| Start |
79794819:79794819(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.986delG |
| AA Mutation |
p.Gly329GlufsTer27(p.G329Efs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269385 |
| Start |
79794849:79794849(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.956delG |
| AA Mutation |
p.Gly319AlafsTer37(p.G319Afs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000269385 |
| Start |
79796125:79796125(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.180-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |