| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286827 |
| Start |
31266224:31266224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.749G>T |
| AA Mutation |
p.Gly250Val(p.G250V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286827 |
| Start |
31120634:31120634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4510A>G |
| AA Mutation |
p.Ile1504Val(p.I1504V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286827 |
| Start |
31266454:31266454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.519A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |