| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265132 |
| Start |
114074967:114074967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.330C>G |
| AA Mutation |
p.His110Gln(p.H110Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265132 |
| Start |
114061432:114061432(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768762324
|
| CDS Mutation |
c.845G>A |
| AA Mutation |
p.Arg282Gln(p.R282Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265132 |
| Start |
114078135:114078135(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200238441
|
| CDS Mutation |
c.75G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |