| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275493 |
| Start |
55155880:55155880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs552062864
|
| CDS Mutation |
c.940G>A |
| AA Mutation |
p.Asp314Asn(p.D314N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000275493 |
| Start |
55165350:55165350(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1793G>A |
| AA Mutation |
p.Gly598Glu(p.G598E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000275493 |
| Start |
55205587:55205587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202156403
|
| CDS Mutation |
c.3603G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |