| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000278823 |
| Start |
62594399:62594399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1701G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000278823 |
| Start |
62598129:62598129(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.385delT |
| AA Mutation |
p.Tyr129ThrfsTer33(p.Y129Tfs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000278823 |
| Start |
62593877:62593877(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2005T>A |
| AA Mutation |
p.Ter669ArgextTer85(p.*669Rext*85) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |