| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309522 |
| Start |
108014493:108014493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373153417
|
| CDS Mutation |
c.324C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000309522 |
| Start |
108019664:108019664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.544G>T |
| AA Mutation |
p.Glu182Ter(p.E182*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000309522 |
| Start |
108019613:108019613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.493C>T |
| AA Mutation |
p.Arg165Ter(p.R165*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |