| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383075 |
| Start |
147396046:147396046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.494G>C |
| AA Mutation |
p.Gly165Ala(p.G165A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383075 |
| Start |
147402748:147402748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.50G>C |
| AA Mutation |
p.Arg17Pro(p.R17P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000383075 |
| Start |
147396177:147396177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.363C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |