| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000447966 |
| Start |
50081621:50081621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750013341
|
| CDS Mutation |
c.1559G>A |
| AA Mutation |
p.Arg520Gln(p.R520Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000447966 |
| Start |
50059016:50059016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.250C>G |
| AA Mutation |
p.Gln84Glu(p.Q84E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000447966 |
| Start |
50078007:50078007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149521223
|
| CDS Mutation |
c.717G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |