| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292535 |
| Start |
102196727:102196727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1316G>A |
| AA Mutation |
p.Gly439Glu(p.G439E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292535 |
| Start |
102097486:102097486(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782020138
|
| CDS Mutation |
c.391G>A |
| AA Mutation |
p.Glu131Lys(p.E131K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000292535 |
| Start |
102178630:102178630(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781811054
|
| CDS Mutation |
c.990G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |