| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380956 |
| Start |
393256:393256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.104G>A |
| AA Mutation |
p.Gly35Asp(p.G35D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380956 |
| Start |
393203:393203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.51G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000380956 |
| Start |
393366:393366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.214A>T |
| AA Mutation |
p.Lys72Ter(p.K72*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |