| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000283249 |
| Start |
160199256:160199256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.64G>A |
| AA Mutation |
p.Gly22Ser(p.G22S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283249 |
| Start |
160195585:160195585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775303141
|
| CDS Mutation |
c.377G>A |
| AA Mutation |
p.Arg126His(p.R126H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000283249 |
| Start |
160172713:160172713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.777G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |