| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262738 |
| Start |
46534394:46534394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765867356
|
| CDS Mutation |
c.2777G>A |
| AA Mutation |
p.Arg926His(p.R926H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262738 |
| Start |
46535838:46535838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1333G>A |
| AA Mutation |
p.Val445Met(p.V445M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262738 |
| Start |
46463747:46463747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150510873
|
| CDS Mutation |
c.4143C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |