| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000406246 |
| Start |
65654575:65654575(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1459delC |
| AA Mutation |
p.His487ThrfsTer7(p.H487Tfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000406246 |
| Start |
65654911:65654911(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1123C>T |
| AA Mutation |
p.Gln375Ter(p.Q375*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000406246 |
| Start |
65658824:65658824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.560-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |