| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326321 |
| Start |
54855791:54855791(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.828C>A |
| AA Mutation |
p.Phe276Leu(p.F276L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326321 |
| Start |
54853786:54853786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.395C>A |
| AA Mutation |
p.Pro132His(p.P132H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000326321 |
| Start |
54866611:54866611(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1248G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |