| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000543824 |
| Start |
8932799:8932799(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1342C>A |
| AA Mutation |
p.Pro448Thr(p.P448T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000543824 |
| Start |
8930721:8930721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756274493
|
| CDS Mutation |
c.899G>A |
| AA Mutation |
p.Gly300Asp(p.G300D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000543824 |
| Start |
8935228:8935228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754172941
|
| CDS Mutation |
c.2358C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |