| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000343348 |
| Start |
116496313:116496313(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs548814059
|
| CDS Mutation |
c.280A>G |
| AA Mutation |
p.Lys94Glu(p.K94E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343348 |
| Start |
116447252:116447252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2454G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343348 |
| Start |
116478679:116478679(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1290G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |