| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267502 |
| Start |
67727110:67727110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs567973980
|
| CDS Mutation |
c.578G>A |
| AA Mutation |
p.Arg193His(p.R193H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267502 |
| Start |
67724552:67724552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.148G>A |
| AA Mutation |
p.Gly50Ser(p.G50S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000267502 |
| Start |
67724569:67724569(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751674066
|
| CDS Mutation |
c.165G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |