| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356805 |
| Start |
54629514:54629514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751609029
|
| CDS Mutation |
c.2380G>A |
| AA Mutation |
p.Ala794Thr(p.A794T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356805 |
| Start |
54647190:54647190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764862001
|
| CDS Mutation |
c.4926G>T |
| AA Mutation |
p.Glu1642Asp(p.E1642D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356805 |
| Start |
54526544:54526544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.126G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |