| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349038 |
| Start |
804341:804341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751656120
|
| CDS Mutation |
c.338A>G |
| AA Mutation |
p.Tyr113Cys(p.Y113C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349038 |
| Start |
808555:808555(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1178A>G |
| AA Mutation |
p.His393Arg(p.H393R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349038 |
| Start |
804891:804891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.669G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |