| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186079016:186079016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779879200
|
| CDS Mutation |
c.618G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186084143:186084143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2457C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296795 |
| Start |
186083022:186083022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1336G>T |
| AA Mutation |
p.Glu446Ter(p.E446*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |