| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000323997 |
| Start |
4956599:4956599(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1099delG |
| AA Mutation |
p.Val367Ter(p.V367*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000323997 |
| Start |
4952803:4952803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764120380
|
| CDS Mutation |
c.94C>T |
| AA Mutation |
p.Arg32Ter(p.R32*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000323997 |
| Start |
4956891:4956891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1235+2T>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |